ILLNESSOPEDIA

Free Online Database Of Diseases, Illnesses & Ailments

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116 results found for "12"



  • 17-beta-hydroxysteroid dehydrogenase deficiency
    The hormones estrogen and androgen play critical roles in the development of sexual organs. 17?-hydroxysteroid dehydrogenase isozyme (17?-HSD) acts as a catalyst between the biologically inactive and active types of hormones. Any deviation from this normal process results into various abnormal conditions. [read more]

  • 22q11.2 deletion syndrome, rare (NIH)
    The disorder known as 22q11.2 deletion syndrome is caused by the deficiency or deletion of a tiny piece of chromosome 22. This deletion happens near the midsection of a chromosome located at q 11.2. [read more]

  • 3C Syndrome
    3C syndrome is also known as cranio-cerebello cardiac (CCC dysplasia) or Ritscher-Schinzel (named after Ritscher and Schinzel who discovered the illness) and is a very rare case of disease. This syndrome is characterized by heart defects or heart malformations and other symptoms that involve the brain. As of 2006, a Kuwaiti medical journal showed that only 30 cases have been reported worldwide and these cases were discovered in Europe and North America. Due to the limited number of cases reported, this disease was classified as a rare type of illness. The molecular basis for this syndrome is still unknown. [read more]

  • Achondroplasia
    Achondroplasia is a kind of autosomal disorder of the dominant genes which commonly causes dwarfism. Achondroplastic dwarfs are short in stature and their average height when they reach adulthood is at 123 centimeters (about 4 feet and 0.6 inches) for females and 131 centimeters (about 4 feet and 3.8 inches) for males. [read more]

  • Acyl-CoA dehydrogenase, very long chain, deficiency of
    Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD) is a rare autosomal recessive condition in which the body fails to oxidize fatty acids because an enzyme is either missing or not functioning correctly. Long-chain 3-hydroxy acyl-coenzyme A dehydrogenase (LCHAD) is 1 of 3 enzymatic activities that comprise the trifunctional protein of the inner mitochondrial membrane. The other 2 activities of the protein are long-chain 3-ketoacyl CoA thiolase (LCKT) and 2-enoyl coenzyme A (CoA) hydratase (LCEH). The protein is an octamer made up of 4 alpha subunits that contain the LCEH and LCHAD activities, and 4 beta subunits that contain the LCKT activity. This enzyme complex helps metabolize long-chain fatty acids, and the LCHAD activity is specific for compounds of C12-C16 chain length. The genes for the alpha and beta subunits have been traced to chromosome 2. Affected infants with LCHAD deficiency, which is inherited as an autosomal recessive trait, arise in infancy with acute hypoketotic hypoglycemia. These episodes usually appear for the first time after a fast, which usually occurs in the context of intercurrent illness with vomiting. [read more]

  • Addison Anemia
    Addison Anemia is a medical condition caused by the malabsorption of Vitamin B-12 and is relatively common form of anemia. [read more]

  • Adrenal Hypoplasia Congenital, X-linked (Adrenal Hypoplasia)
    There are four types of congenital adrenal hypoplasia that have been recognized and they are the following: an X-linked type or the OMIM 300200 which is caused by a deletion or mutation of the AHCH gene or the DAX1 gene (found in the X chromosome dosage-receptive sex reversal adrenal hypoplasia congenital vital region). This type is often linked with hypogonadotropic hypogonadism. It might be a component of an adjacent deletion of chromosome (this may include congenital adrenal hypoplasia, OMIM 310200 or the Duchenne muscular dystrophy and OMIM 307030 or glyce3rol kinase deficiency; the second type is the autosomal recessive type and it is caused by a deletion or mutation of the gene which is responsible for coding for SF-1 or steroidogenic factor 1 on OMIM 184757 or chromosome 9q99. This type is also linked with hypogonadotropic hypogonadism; The third type is an autosomal recessive type. This type has a vague etiology (or OMIM 240200); The fourth type of adrenal hypoplasia which is linked with the retardation of intrauterine growths, genital defects, and metaphysical dysplasia is the OMIM 300290 or the IMAGe (intrauterine growth retardation, metaphysical dysplasia, adrenal hypoplasia congenital, genital defects) association. The X-linked type adrenal hypoplasia congenital is a disease which is mainly acquired by males. It usually involves several endocrine tissues of the body most especially the gmall glands above the kidneys or the adrenal glands. The characteristics that often manifest are a reduction in the function of the adrenal gland; hypoglycemia; dehydration, feeding difficulties; and shock. Other male patients might also be sexually underdeveloped. The females who are rarely affected also have adrenal insufficiency and a deficiency of sex hormones. [read more]

  • Aging
    Aging, also known as the cycle of life, is any form of change of an organism as time passes. There are many dimensions to aging such the physical, psychological, mental, and emotional aspects. For example, the time of reaction of a human being is lessened or slowed as he ages while his wisdom and knowledge of facts may improve. There should be a distinction between universal aging (where all people go through) and probabilistic aging (which is a type of aging that occurs only to some and not all individuals). An example of probabilistic aging is the manifestation of diabetes mellitus. Chronological aging refers to the actual age of an individual and it can clearly be distinguished from social aging (where the society expects people to behave in accordance to their age and status). The third type of aging is biological aging (which is the person's physical state as he ages). Age measurement is done through entire years or months in the case of infants. An individual's birthday is often a significant event. As to mental aging, it is a bit more challenging to categorize individuals under this type because an older person does not guarantee mental or emotional capacities that are greater than the younger generation. [read more]

  • Alveolitis, extrinsic allergic
    Extrinsic allergic alveolitis (EAA), also known as hypersensitivity pneumonitis, is an inflammation of the alveoli found in the lung. This condition is caused by hypersensitivity to various types of inhaled organic dusts. People with this disease are usually exposed to dust from their hobbies or occupations. Several types of extrinsic allergic alveolitis exist based on the provoking antigen. These include Bird-Breeder's Lung (avian proteins), Farmer's Lung (molds), Bagassosis (moldy bagasse or sugarcane), Malt Worker's Lung (moldy barley), Humidifier Lung (by mist of standing water). Mushroom Worker's Lung (mushroom compost), Compost Lung (compost), Peat Moss Worker's Lung (peat moss), Suberosis (moldy cork dust), Japanese Summer-Type HP (damp wood and mats) and Cheese-Washer's Lung (cheese casings). Other types of EAA include Hot Tub Lung, Mollusc Shell HP, Metalworking Fluids HP, Isocyanate HP, TMA HP, Beryllium and Wine-grower's Lung. The most common of all EAA are Bird-Breeder's Lung and Farmer's Lung, affecting 8 to 850 people in 100,000 persons each year for farmers alone and 6,000 to 21,000 people in 100,000 persons for pigeon breeders yearly. [read more]

  • Anemia
    Anemia comes from the Greek words “an-hama”, which means “without blood”. Anemia is the most widespread blood disorder. This condition is a deficiency of RBCs (red blood cells) or hemoglobin, the molecules inside RBCs. When hemoglobin carries oxygen from the lungs into tissues, anemia causes lack of oxygen in organs. When this happens, different clinical consequences may occur due to oxygen deficiency. There are three classes of anemia – excessive blood loss, excessive blood cell destruction and deficient production of red blood cells. Anemia has several types, which are produced by various underlying causes. This disease can be classified using different ways, normally based on discernible clinical spectra, the morphology of red blood cells and etiologic mechanisms. [read more]

  • Anemia, Pernicious
    Pernicious anemia, also called “Addisson's anemia” or “Biermer's anaemia”, is a type of megalobastic anemia caused by vitamin B12 deficiency. This condition is the most common cause of vitamin B12 deficiency in adults. [read more]

  • Angelman Syndrome
    Angelman syndrome is a hereditary disorder that causes developmental disabilities and neurological problems, such as balancing and walking, and difficulty speaking. Regular smiles and outbursts of laughter are common for people with Angelman syndrome, and many have happy, excitable personalities. [read more]

  • Angular Cheilitis
    A chronic inflammatory condition of the corners of the mouth is called angular cheilitis or perleche. It is usually associated with a bacterial (Staphylococcal) or fungal (Candidal) infection, and those infected may also have thrush (an oral candidiasis). Depending upon whether or not the affected person seeks treatment, the condition can last from days to months. [read more]

  • Aphthous stomatitis
    Aphthous stomatitis is a form of mouth ulcer that presents a painful open sore within the mouth, which is caused by a break in the patient's mucous membrane. Also known as aphthous ulcer or “Sutton's disease”, the term “aphtha” means ulcer. Aphthous stomatitis is characterized by repeated painful discrete areas of ulceration. Recurrent Aphthous stomatitis (RAD) is distinguished from other diseases by their multiplicity, chronicity and tendency to recur. RAD is one of the most common oral diseases, accounting to 10% of the population. Females are more affected by Aphthous stomatitis than men are. However, over 35% of patients with RAD have a family history of this disease. [read more]

  • Aphthous Ulcers
    Aphthous ulcers are more commonly known as canker sores. These are characterized by the development of small and shallow lesions on the soft tissues in your mouth, under the tongue, or insides of the cheeks or lips, as well as at the base of the gums. Often , it will usually go away naturally after a few weeks or so. [read more]

  • Aplastic anemia
    Aplastic anemia is a condition wherein the bone marrow does not produce enough new cells to replenish the blood cells. The word “aplastic” refers to the marrow that suffers from aplasia, making it unable to function normally. Anemia is the disorder that results in having lesser red blood cells than normal, which are needed to function properly. Although anemia refers to low levels of red blood cells, Aplastic anemia differs due to the lower counts of all blood cell types – platelets, white blood cells and red blood cells. [read more]

  • Arakawa's syndrome II
    An error of metabolism that is inherent is known as Arakawa's syndrome II. A hereditary disorder caused by the absence of the enzyme tetrahydrofolate-methyltransferase. People who has this disease cannot properly digest methylcobalamin a kind of Vitamin B12. Other terms for this disease are Methionine synthase deficiency, N5-methylhomocysteine transferase deficiency and Tetrahydrofolate-methyltransferase deficiency syndrome. [read more]

  • Arterial tortuosity
    Arterial tortuosity is an unusual hereditary connective tissue disorder distinguished by elongated and widespread tortuosity of the main arteries involving the aorta. The autosomal recessive acquired and location of the gene responsible is in the chromosome 20q13. [read more]

  • Ascariasis
    Ascariasis is a human infection caused by the parasitic roundworm Ascaris lumbricoides. Maybe one quarter of the world's inhabitants is infected and ascariasis is mainly common in humid regions and in regions of poor hygiene. Additional types of the species Ascaris are parasitic and can cause infections in domestic animals. Disease happens during eating of food contaminated with feces having Ascaris eggs. The larvae hatch hideaway all the way through the intestine, arrive at the lungs, and lastly travel up the respiratory tract. Starting there they are then re-swallowed and grow up in the intestine, growing up to 30 cm (12 in.) in length and securing itself to the intestinal wall. Diseases are typically asymptomatic especially if the quantity of worms is little. They may nevertheless be associated with swelling, fever, and diarrhea, and serious harms may extend if the worms travel to other portions of the body. [read more]

  • Autoimmune peripheral neuropathy
    Autoimmune peripheral neuropathy is a term for the nerves of the secondary nervous system being damaged that can result from either diseases of the nerve or from the systemic illness side-effects. Secondary neuropathies differ in their presentation and origin and can affect the neuromuscular or nerve junction. [read more]

  • Barrett's Syndrome
    Barrett's syndrome, also known as “Barrett's esophagus”, “CELLO” or simply “Barrett's” is a condition wherein patients experience an abnormal change in the cells of the lower part of the esophagus. Named after Dr. Norman Barrett, a British surgeon from St. Thomas Hospital that described the condition in 1957, Barrett's syndrome is believed to be caused by reflux esophagitis or damage from exposure to chronic acid. Barrett's syndrome occurs in 10% of patients seeking medical attention for heartburn. In addition, Barrett's is considered a premalignant condition, which is associated with a great risk of esophageal cancer. [read more]

  • Becker's Muscular Dystrophy
    Becker's muscular dystrophy (BMD), also known as benign pseudohypertrophic muscular dystrophy, is an X-linked inherited disorder that involves the slowly and progressive weakness of the muscle in the legs and pelvis. It is a type of dystrophinopathy, which includes a range of muscle diseaseswhere there is insufficient dystrophin produced in the muscle cells, resulting in instability in the muscle cell membrane's structure. [read more]

  • Becker's Nevus
    Becker's nevus is a skin disorder that predominantly affects males. The nevus mostly first appears as an irregular pigmentation (hyperpigmentation) on the torso or upper arm (though other areas of the body can be affected), and gradually enlarges in an irregular shape, becoming thickened and often developing abnormal hair growth (hypertrichosis). It is also known as Becker's pigmented hairy nevus, Becker nevus, Becker pigmented hairy nevus, Becker melanosis and pigmented hairy epidermal nevus. [read more]

  • Bee And Wasp Stings
    Bee And Wasp Stings are insect stings brought about by bites of bees and wasps. Bees are fuzzy insects that feed on flowers while wasps are non-fuzzy insects closely related to bees but can also feed on animal food and other insects. The two insects may l [read more]

  • Borreliosis
    Borreliosis, also known as Lyme disease, is an emerging infectious disease caused by bacteria from the genus Borrelia. The vector of infection is usually the bite of an infected black-legged or deer tick, but other carriers (including other ticks in the genus Ixodes) have been implicated. Borrelia burgdorferi is the leading cause of Lyme disease in the U.S. and Borrelia afzelii and Borrelia garinii are found in Europe. The disease presentation varies greatly, and may include a rash and flu-like symptoms in its initial stage, then musculoskeletal, neurologic, arthritic, psychiatric and cardiac manifestations. In a most of the cases, symptoms can be eliminated with antibiotics, especially if treatment begins early in the course of illness. Late or inadequate treatment often results to "late stage" Lyme disease that is disabling and difficult to treat. Controversy over diagnosis, testing and treatment has resulted to two different standards of care. [read more]

  • Bothriocephalosis
    Bothriocephalosis (also known as Diphyllobothriasis) is an infection with an intestinal parasite. The parasite is a fish tapeworm known as Diphyllobothrium latum. Human infection is caused by eating undercooked fish contaminated with the bacteria. Adult tapeworms may infect humans, felines, canids, pinnipeds, bears, and mustelids, though the accuracy of the records for some of the nonhuman species is disputed. Immature eggs are passed in the feces of the mammal host (the definitive host, where the worms reproduce). [read more]

  • Botulism
    Botulism (from the Latin word, botulus, meaning "sausage") is a rare, but serious paralytic illness caused by a toxin, botulin, that is produced by the bacteria Clostridium botulinum. Botulinic toxin is one of the most powerful known toxins: about one microgram is deadly to humans. It acts by blocking nerve function and leads to respiratory and musculoskeletal paralysis to the individual. [read more]

  • Bourneville's Disease
    Bourneville's disease (also known as Tuberous sclerosis) is characterized by facial lesions with tuberous sclerosis, first reported as adenoma sebaceum, but now recognised as angiofibromas. It produces tuberous sclerosis occurring in association with adenoma sebaceum. It is syndrome of epilepsy, severe mental retardation associated with adenoma sebaceum (overgrowth of the sebaceous glands) of the face, hamartomatous tumours of the heart and kidney, and cerebral cortical tubers (hence the name "tuberous sclerosis"). It is heredofamilial and usually shows itself early in life. Females are more often affected by this disease than males. Incomplete forms of the syndrome can manifest. Bourneville's disease is transmitted as an autosomal dominant trait with variable expressivity. [read more]

  • Bronchopulmonary Dysplasia
    Bronchopulmonary dysplasia involves the abnormal development of lung tissue. It is marked by inflammation and scarring in the lungs. It occurs most often in premature babies, who are born with underdeveloped lungs. "Broncho" is the name of the airways (the bronchial tubes) through which the oxygen we breathe travels into the lungs. "Pulmonary" refers to the lungs' tiny air sacs (alveoli), where carbon dioxide and oxygen are exchanged. "Dysplasia" means abnormal changes in the organization or structure of a group of cells. The cell changes in BPD occur in the smaller airways and lung alveoli, making breathing difficult and causing problems with lung function. [read more]

  • CADASIL
    CADASIL, which stands for cerebral autosomal dominant arteriopathy with subcortial artifacts and leukoencephalopathy, is a type of inherited stroke disorder, usually attacks persons aged 30-50 years old. The disease is fatal, as patients usually die around 12 years after symptoms show. The disease affects the brain's small blood vessels. CADASIL also causes an abnormality in the muscle cells around the small blood vessels, called the vascular smooth muscle cells, leading to the destruction of the blood vessel cells. Patients typically have one parent who has CADASIL; as one copy of the gene is enough to cause the condition. [read more]

  • Carcinoid syndrome
    Carcinoid syndrome points to the collection of symptoms that happen next to carcinoid tumors. Carcinoid tumors happen together along with gastrointestinal tract (GI) that are distinct, colored yellow and well-circumscribed tumors. The tumors usually affect the ileum, appendix and rectum and it is usually distinctive and endocrine in nature. The tumors produce hormones into the blood stream that go through to the end organs and operates then by proper receptors. Though it fairly unusual, out of 15 cases per 1,000,000 population carcinoid tumors report for 75% of GI endocrine tumors. [read more]

  • Chronic Sinusitis
    Chronic sinusitis is the inflammation of the mucous membranes in the sinuses causing fluid buildup that plugs the sinus cavity and prevents normal mucus drainage. The condition recurs or stays longer than 12 consecutive weeks. [read more]

  • Cold Agglutinin Disease
    Cold agglutinin disease is a form of hemolytic anemia, wherein there is a decrease in the levels of red blood cells caused by malfunction of the body's immune system. The body mistakenly creates antibodies that destroy healthy red blood cells during cold temperatures. Red blood cells normally have a 120-day lifespan before being disposed by the body's spleen; however, in people with the disease, they are prematurely destroyed and production in bone marrow can't compensate for the loss. [read more]

  • Cot Death
    Cot death, also known as sudden infant death syndrome (SIDS), is an unexplained death among infants ranging from 1 to 12 months old. This condition is common among infants with low birth weight. [read more]

  • Crow-Fukase Syndrome
    The rare medical condition called Crow-Fukase syndrome is also called POEMS syndrome after the clinical features that distinguish it from other diseases – Polyneuropathy (peripheral nerve damage), Organomegaly (abnormal enlargement of organs), Endocrinopathy (damage to hormone-producing glands)/Edema, M-protein (an abnormal antibody) and Skin abnormalities (including hyperpigmentation and hypertrichosis). [read more]

  • Cyclic vomiting syndrome
    Cyclic vomiting syndrome is a chronic vomiting disorder having no identified cause. It is most common in children ages 3-7 years which they will outgrow in teenage years. But since it is recurring, it can occasionally happen in adults as well. [read more]

  • Diabetic neuropathies
    Diabetic neuropathies is a microvascular trauma that involves capillaries and venoules that provides blood and nutrients to the nerves, it is cause by diabetes melllitus. [read more]

  • Duchenne muscular dystrophy
    is a form of muscular dystrophy that is characterized by decreasing muscle mass and progressive loss of muscle function in male children [read more]

  • Enuresis
    Also known as bed-wetting, nocturnal enuresis of nighttime incontinence is a developmental stage and is not a sign of toilet training gone bad. Primary enuresis is the term for children who have never been dry at night. Those who begin to wet the bed after at least six months of dry nights are considered to have secondary enuresis. [read more]

  • Eosinophilic granuloma
    Eosinophilic granuloma is a rare disease often involving proliferation of clones of the langerhans cells, ana some abnormal cells from the bone marrow which are and capable of migrating from the skin to the lymph nodes. In a clinical test, its presentations may range from an isolated bone lesions to a disease involving many parts of the body systems. [read more]

  • essential thrombocytopenia
    Essential thrombocytopenia refers to low platelets level in blood. The normal platelet count in the blood ranges from 150,000 and 450,000 per mm3. While in thrombocytopenia it has less than 150,000 per mm. [read more]

  • Familial Mediterranean fever
    A genetic health condition, familial Mediterranean fever is characterized by the repeating occurrences of inflammation in the chest, abdomen, or joints. These episodes, which were found to be painful, typically happen along with fever, and at times, a rash. [read more]

  • Familial paroxysmal peritonitis
    Familial paroxysmal peritonitis or also known as Familial Mediterranean fever is an inherited inflammatory disorder usually occurring among people with Mediterranean origin. A rare disorder, it is typically diagnosed during childhood. [read more]

  • Fg Syndrome
    FG syndrome is a rare genetic disorder that causes poor muscle tone, an abnormally large head, and recurring rectal problems. [read more]

  • Flatulence
    Flatulence or flatus is passing of intestinal gas which generally everyone passes gas at least 12 times or more. Flatus usually isn't serious, but sometimes unexpelled gas can cause intense, intermittent pain in the abdominal region. [read more]

  • Gitelman Syndrome
    Gitelman syndrome is a rare autosomal-recessive disease characterized by a defective functioning in the kidneys' distal convoluted tubule. This defect causes prevents magnesium, sodium, potassium and chloride from being absorbed by the bloodstream and is instead is released into the urine. The disease is also a variant of the Bartter's syndrome. [read more]

  • Gittings Syndrome
    Gittings or Gitelman Syndrome is an inherited defect in the distal convoluted tubule of the kidneys. [read more]

  • Grover's disease
    Grover's disease is a common skin disorder that is presented by itchy red spots on the trunk. It usually occurs in men over the age of forty. [read more]

  • Hantavirus Pulmonary Syndrome
    Hantavirus pulmonary syndrome or HPS for brevity, is a deadly medical condition where the disease is transmitted by infected rodents through urine, droppings, or saliva. [read more]

  • Hearing Loss
    Hearing loss is a the decrease, whether full or partial, of the ability to detect or understand sounds (Speech and Language Terms and Abbreviations. Retrieved on 2006-12-02). [read more]

  • Heart situs Anomaly
    Heart situs anomaly otherwise known as Dextrocardia, is a condition where in the heart is located in the right side of the thorax whereby the apex is pointing to the right. It is characterized by the reversal of the normal position of the heart. [read more]

  • Hemiplegia
    Hemiplegia is a medical condition where there is paralysis of the other half of the patient's body. This is in contrast to hemiparesis where the other half of the body is just merely weakened but not paralyzed. [read more]

  • Hydranencephaly
    Hydranencephaly is a rare condition in which the brain's cerebral hemispheres are missing and replaced by sacs filled with cerebrospinal fluid. [read more]

  • Hymenolepiasis
    Hymenolepiasis is infestation by one of two species of tapeworm: Hymenolepis nana and Hymenolepis diminuta. [read more]

  • Hyperhomocysteinemia
    Hyperhomocysteinemia is a condition wherein there's an excessive level of homocysteine in the blood. It's often linked with cobalamin or folate deficiency, and genetic defects. Homocysteine is a molecule in the body that's naturally occurring, and is needed in many reactions that happen within body cells. These reactions result to methionine and cysteine formation; if passageways to methionine and cysteine are blocked, then the levels of homocysteine rise. [read more]

  • hypertension
    High blood pressure or more popularly referred to as hypertension means high pressure in the arteries or the vessels that carries blooding from the heart to other parts of the body. The normal blood pressure of a human being is typically below 120/80 and people who reaxch 140/90 are most likely suffering form hypertension. [read more]

  • Hypoadrenalism
    Hypoadrenalism is a condition whereaby the adrenal glands are underactive, with suppressed ability to produce a range of hormones. The adrenal glands, located above each kidney, are responsible for hormone production. The inactivity of these glands is called hypoadrenalism. [read more]

  • Invasive Lobular Carcinoma
    Lobular carcinoma in situ (LCIS) is not a cancer, but its presence means that there is a small increase in the risk of developing breast cancer later on in life. Even so, majority of women with LCIS do not develop breast cancer. [read more]

  • Job syndrome
    It was in the year 1966 that the Job syndrome was first described as the hyper-IgE/HIE or hyperimmunoglobulin E syndrome which is a very rare immunodeficiency disease. This disorder can be inherited in an autosomal dominant pattern. HIE has changing expressivity and is linked with several other abnormalities. The general findings are recurring abscesses of the skin (this is why it is called the Job syndrome, derived from the biblical character Job); high IgE serum levels; pneumonia which comes with pneumatocele development; and dental, facial or skeletal defects. Most cases of this disorder are sporadic but there are cases of multiplex families who display autosomal recessive and autosomal dominant inheritance. Autosomal recessive individuals usually have acute molluscum contagiosm. Also, it is possible for neurological complications to develop because of other viral infections. The patients also lack dental or skeletal involvement and they do not develop cysts of the lungs. A few authorities have the belief that 2 separate syndromes are in existence, not just one. [read more]

  • Juvenile Myoclonic Epilepsy
    Juvenile myoclonic epilepsy or JME is also called the Janz syndrome. This is a common type of idiopathic generalized epilepsy which represents 5-10% of all the types of epilepsies. This disease manifests primarily between the 12th-18th month and with myoclonus showing very early during the morning. Most of the patients also manifest absence and tonic-clonic seizures. Studies have shown at least six loci for JME of which 4 have specific causative genes. Most of the genes are ion channels together with the sole non-ion channel gene after manifesting effects on currents of ion channel. [read more]

  • Keratoacanthoma
    Keratoacanthoma is a fairly common, epithelial tumor. Formerly, it was regarded as variant of Squamous Cell Carcinoma; a form of malignant cancer that occur in many different organs of the body including the skin, lips, esophagus, and mouth among other else. It is a disease common in the elderly. Keratoacanthoma usually disappears by itself within a period of time; it is non-contagious. [read more]

  • Klippel-Feil syndrome
    Klippel-Feil Syndrome is a rare medical condition described as the congenital fusion of any two (2) of the seven (7) vertebrae located in the neck. This rare disorder was first accounted by Maurice Klippel and Andre Feil from France in the year 1912. [read more]

  • Legionellosis
    Legionellosis is a contagious disease that causes respiratory illnesses such as pneumonia and pontiac fever. It was first described in 1976 when an outbreak occurred in a convention in Philadelphia, U.S.A. An average of 8,000 to 18,000 people in the Unites States acquire the disease each year. [read more]

  • Legionnaires `Disease
    Legionnaires' disease is an infectious disease caused by bacteria belonging to the genus Legionella. Over 90% of legionellosis cases are caused by Legionella pneumophila, a ubiquitous aquatic organism that thrives in warm environments (25 to 45 °C with an optimum around 35 °C). [read more]

  • Lesch-Nyhan syndrome
    The Lesch-Nyhan syndrome is a rare hereditary disorder which is transmitted by the mother to her male offspring. Patients with the disease suffer from sever mental and physical disabilities as well as self-mutilating behaviors all throughout life. [read more]

  • Liddle syndrome
    Liddle syndrome is an autosomal dominant genetic disorder that causes problems with potassium deficiency and sodium resorption from the renal tubule. Hypertension tends to develop at infant stages because of this disease. [read more]

  • Lyme Disease
    Also called borreliosis, lyme disease is an infectious disease that results from an invasion of a bacteria from the genus Borrelia. The point of infection is usually the bite of a contaminated black-legged or deer tick. Other carriers, including other kinds of ticks, may also pass the affliction to humans. In the US, lyme disease is primarily caused by borrelia burgdorferi, whereas Borrelia afzelii and Borrelia garinii are the predominant causes in Europe. [read more]

  • Malabsorption
    Malabsorption is a condition characterized by impaired absorption of nutrients from the GI tract, affecting the small intestine's ability to adequately absorb nutrients that are essential for the normal functioning of the body. [read more]

  • Megaloblastic anemia
    By definition, Megaloblastic anemia is a rare form of anemia classified as macrocytic that result when DNA synthesis is inhibited in the body's red blood cell production [read more]

  • Meningitis In Children
    Meningitis is a severe bacterial infection that triggers the brain and spinal cord. It commonly affects children ages 6 to 12 months. [read more]

  • Methylmalonic acidemia
    This autosomal genetic disorder is also called methylmalonic aciduria and one that particularly affects the body's branched-chain amino acids. It is considered a classical type of academia that is organic in origin. [read more]

  • Multiple Hereditary exostoses
    Hereditary multiple exostoses (HME) is a medical condition that is rare, in which bony spurs or lumps (exostoses, or osteochondromas) develop on a child's bone. The disease is synonymous with Multiple hereditary exostoses and Multiple osteochondromatosis. The latter is the term used by the World Health Organization. Exostoses are do not exist at birth. However, 96 percent of affected people develop multiple exostoses by the time they are 12 years old. [read more]

  • Noma
    Noma came from the Greek term numein which means to devour. This condition is also referred to as Cancrum Oris or Gangrenous Stomatitis. Noma is a form of gangrenous disease which leads to destruction of the tissues of the face. Commonly affected areas are the cheeks and mouth. Noma has significantly high rates of morbidity and mortality. A rough estimate of 80% had been reported. Children under the age of 12 years who are living in the poor countries of Africa have high predisposition to this disease. Asian children as well as several countries within South America also present a certain degree of predisposition. Majority of the children who develop Noma are around the ages 2 to 6 years old. An estimated number of 500,000 individuals had developed this disease according to the WHO. 100,000 new cases arise every year. [read more]

  • Optic Atrophy
    Optic atrophy is the loss of some or most of the fibers of the optic nerve. [read more]

  • Pallister Killian Mosaic Syndrome
    Pallister Killian mosaic syndrome is a very rare disease that affects humans. It consists of the development of the isochromosome 12p, which has two abnormally small legs. [read more]

  • Peripheral Neuropathy
    Peripheral neuropathy is the term used to describe damage to the nerves in the peripheral nervous system. The damage may be bue to diseases involving the nerve due to side-effects of some systemic illness. The damage or Peripheral neuropathies may vary on how they are presented and how it originated. [read more]

  • Peritoneum Cancer
    Peritoneum cancer pertains to cancer originating from the peritoneum, a membrane that lines the insides of the abdomen including all the organs found here like the intestines, liver and stomach. Peritoneum cancer is a rare type of cancer mainly affecting women, similar to ovarian cancer. Peritoneum cancer is also alternatively known as primary peritoneal cancer or PPC. [read more]

  • Pernicious Anemia
    Pernicious anemia is also popularly known as Biermer's anaemia and Addison's anaemia or even Addison-Biermer anaemia. This is a rare form of megaloblastic anemia which is due to deficiency in vitamin B12 which is caused by an impaired absorption of the vitamin because of the absence of some intrinsic factor especially in the setting of the atrophic gastritis, more specifically, loss of the gastric parietal cells. [read more]

  • Pinealoma
    Pinealoma is defined as a rare type of tumor that grows at a slow rate in the patient's brain. This disease is often referred to as pineocytoma or pinealocytoma. [read more]

  • Plague
    Plague is a life-threatening infection caused by the organism Yersinia pestis, the bacterium that caused the 14th-century Black Death plague pandemic. [read more]

  • Polyneuritis
    Polyneuritis is a widespread inflammation of several peripheral nerves at the same time. [read more]

  • Prader-Willi Syndrome
    Prader-Willi syndrome (PWS) is a genetic disorder characterized by hyperphagia, food preoccupation, learning difficulties and having a small stature. It is a very rare disorder that happens in only in 1 in 12,000 or 15,000 live births. It was discovered by Andrea Prader, Heinrich Willi, Alexis Labhart, Andrew Ziegler, and Guido Fanconi of Switzerland in 1956. [read more]

  • Rabies
    Rabies is a viral zoonotic neuro-invasive infection that often causes an inflammation of the brain (a condition known as acute encephalitis). Rabies is from the Latin word “rabies” meaning “rage, fury, or madness”. Rabies can be fatal when affecting non-vaccinated humans, especially after neurological symptoms have occurred. However, the effects can be curbed if the patient is promptly vaccinated shortly after exposure to the virus. When the disease becomes symptomatic, however, it becomes invariably fatal. [read more]

  • Reye's Syndrome
    Reye's syndrome is a disease commonly occurring in children characterized by a range of several detrimental effects to many organs in the body, particularly the liver and the brain. If undiagnosed and untreated early, it can be potentially fatal. [read more]

  • Rhabdomyosarcoma
    Rhabdomyosarcoma is a rare form of cancer of the sarcoma (or connective tissues) commonly occurring in children ages 1 to 5 and, in some cases, teenagers ages 15 to 19. The malignant cells are believed to originate from skeletal muscle progenitors. The cancer may also attach itself to muscle tissues, wrap around intestines, or affect any other areas. The cancerous mass may resemble a 6-8 week old embryo in younger children. In teens and older children, the cancer may be as large as a 10-12 week old embryo. [read more]

  • Rubella, Congenital
    Congenital rubella syndrome (or CRS) can affect a developing fetus of a pregnant woman who has been infected by rubella during the first trimester of her pregnancy. If the mother is infected 0-28 days before conception, there is a 43% risk of the fetus being affected. If infection occurs 0-12 days after conception, chances of CRS affecting the infant are 51%. If the infection occurs 13-26 weeks after conception, the chances of CRS affecting the fetus are 23%. However, if the infection occurs in the last trimester, specifically in the 26th to 20th week after conception, the infants are not generally affected. [read more]

  • Rubeola
    Rubeola, more commonly known as measles, is a highly contagious disease caused by a virus and spread through respiration. [read more]

  • Rubinstein-Taybi Syndrome (Gene Promoter Involvement)
    Rubinstein-Taybi syndrome, also called Broad Thumb-Hallux syndrome, is a condition characterized by moderate to severe mental retardation, short stature, broad thumbs and first toes, distinctive facial features, and short stature. A distinction can be made between Rubinstein-Taybi like syndrome and Rubinstein-Taybi syndrome; the latter has gene promoter involvement. [read more]

  • Rumination Disorder
    Rumination disorder is a type of eating disorder in which the affected patient brings up partially digested food, and then chews it again before either swallowing or spitting it out. Originally named “childhood rumination disorder”, this chronic condition commonly affects children 3 to 12 months of age and may cause malnutrition. But while rumination primarily occurs in infancy or childhood, it may also affect adults. In some animals known as ruminants, rumination is a normal part of digestion. However, in humans, this behavior is distinctly abnormal and can be potentially dangerous because the esophagus can be damaged by frequent exposure to stomach acids. Rumination is linked to other eating disorders, including anorexia nervosa, and is believed to be related to the sufferer's apprehension or stress after eating a normal meal. For individuals with bulimia or purging compulsions, rumination may occur when the patient is unable to throw up. To date, there is no known cure or case for rumination. In some cases, the patients may simply “grow out of it” (or outgrow the condition), but there is no guarantee the affected patients will do so. [read more]

  • Salla Disease
    Salla disease is an autosomal recessive congenital disease affecting lysosomal storage, resulting in early physical impairment and mental abnormalities. It is also alternatively known as Finnish type sialuria or sialic acid storage disease. [read more]

  • Scarlet Fever
    Scarlet fever is an exotoxin illness characterized by a red “strawberry-like” tongue, sore throat, fever, and a rash on the upper body that may spread to other parts of the body. A distinction must be made between scarlet fever and rheumatic fever, although the former can progress into the latter. [read more]

  • Sudden Infant Death Syndrome
    Sudden infant death syndrome (SIDS), is the unexplained death in infants ages 1 to 12 months old. This phenomenon is common among infants with low birth weight. SIDS is the third main cause of death among infants in the United States. [read more]

  • Thrombocytopenia
    Thrombocytopenia is the presence of relatively few platelets in one's blood. [read more]

  • Tick Paralysis
    Tick paralysis is the only tick-borne disease that is not due to an infectious organism. The illness is the result of a neurotoxin produced in the tick's salivary gland. After prolonged attachment, the engorged tick releases the toxin to its host. [read more]

  • Tracheoesophageal Fistula
    Also known as TEF, tracheoesophageal fistuka is an abnormal connection between the esophagus and the trachea, and is a common congenital abnormality. [read more]

  • Trachoma
    The leading cause of blindness around the world, Trachoma is an infectious eye disease that resulted to about 8 million, visually-impaired people around the world. According to studies, the disease results to an estimated US $ 2.9 billion in lost productivity every year. [read more]

  • Triple A Syndrome
    Triple-A syndrome or Allgrove syndrome is a rare autosomal recessive disorder discovered by Jeremy Allgrove and colleagues in 1978. The name Triple A stands for achalasia-addisonianism-alacrima syndrome. This means that affected individuals have adrenal insufficiency, alacrima (absence of tear secretion), and achalasia. The latter means failure of a ring of muscle fibers such as the sphincter, to relax. [read more]

  • Trisomy 21 Syndrome
    Trisomy 21 syndrome is a form of down syndrome, which is caused by the abnormal cell division involving the 21st chromosome during the development of the sperm cell or the egg cell. [read more]

  • Tropical Sprue
    Commonly found in the tropical regions, Tropical sprue is a malabsorption disease marked with abnormal flattening of the villi and inflammation of the lining of the small intestine. [read more]

  • Tuberculosis meningitis
    The most common form of CNS tuberculosis, Tuberculosis meningitis is an infection of the meninges, or the membranes covering the brain and spinal cord. It is a very rare disorder. [read more]

  • Tuberculosis-Pulmonary
    Tuberculosis (TB) is an infectious disease that is very common and attacks the lungs. The disease can also affect the central nervous system, the lympathic system, circulatory system, genitourinary system, bones, joints, and even the skin. About one-third of the world's population has been infected with the disease and new cases are added at a rate of one per second. [read more]

  • Turner Syndrome
    A genetic condition, Turner syndrome is a disease in which a female does not have the usual pair of two X chromosomes. [read more]

  • Tylenol liver Damage
    Tylenol liver damage is a liver disease brought about by abusive consumption of the drug Tylenol, an effective analgesic and antipyretic medication used to treat headache and fever. [read more]

  • Variola
    Variola is a virus that causes smallpox which can be highly contagious as often a deadly disease. Based in history, smallpox have been known to have such a profound effect in the human health and has caused about 300 million deaths all over the world. [read more]

  • Vitamin B12 Deficiency
    Vitamin B12 deficiency is the deficiency which usually result from the failure of the digestive tract to absorb Vitamin B12 or Cobalomin which is necessary for making red blood cells and which is responsible for keeping the nervous system functioning. It is said that this deficiency may cause irreversible damage to the person's nerve (Insel, P., Turner, E., Ross, D. (2005). Discovering Nutrition, Jones and Bartlett Publishers, p. 353). [read more]

  • Waardenburg Syndrome Type 2A
    Waardenburg Syndrome type 2 or WS2A for brevity, is a subtype of Waardenburg Syndrome 2 where the variation in the gene involves the MITF or the microphthalmia-associated transcription factor located at the 3p14.1-p12.3. It is also manifest by hearing impairment. It is also said to be an autosomal recessive inasmuch as it need two copies of altered gene to make a person affected with the disorder. [read more]

  • Waterhouse-Friderichsen Syndrome
    Waterhouse-Friderichsen syndrome, WFS for brevity is usually bilateral and massive, hemorrhage into the adrenal glands caused by fulminant meningococcemia (Kumar V, Abbas A, Fausto N (2005). Robins and Coltran: Pathological Basis of Disease, 7th, Elsevier, pp. 1214–5) [read more]

  • Weber Sturge Dimitri Syndrome
    Weber Sturge Dimitri Syndrome otherwise known as the encephalotrigeminal angiomatosis is a rare congenital neurological and skin disorder. It is a phakomatoses and usually associated with port-wine stains on the face, glaucoma, seizures, ipsilateral leptomeningeal angioma and mental retardation. [read more]

  • Wernickle-Korsakoff Syndrome
    Wernickle-Korsakoff syndrome is a condition characterized by loss of memory and confusion. This is caused by a dysfunction in the brain due to lack of sufficient B vitamins. [read more]

  • West Nile Virus
    West Nile virus is an RNA virus which is also a member of the Flaviviridae family that is transmitted through culicine mosquitoes which usually bite birds and infect horses and humans (Guharoy R. Noviasky JA, et al. (2004) West Nile Virus Infection, AmJ Health Syst. Pharm. Jun 15:61 (12). [read more]

  • West Syndrome
    West Syndrome also known as the “Infantile Spasms” is a rare form of epilepsy in infants. The syndrome is related to the age of the person and usually occur in the 3rd and 12th month especially the 5th month of the infant. [read more]

  • Wheat Hypersensitivity
    Wheat Hypersensitivity otherwise known as the Wheat allergy is a kind of food allergy which involves IgE and mast cell response. [read more]

  • Wolff-Parkinson-White Syndrome
    Wolff-Parkinson-White syndrome, WPW for brevity is a medical condition characterized by the pre-excitation of the heart ventricles resulting from the bundle of kent or the abnormal accessory pathway. [read more]

  • Xeroderma Pigmentosum, Type 5
    Type 5 Xeroderma pigmentosum or the Xeroderma pigmentosum group E is a subtype of the Xeroderma pigmentosum where the variation in the gene involved is the DDB2 located at the 11p12-p11. This type only difference to the rest of the types of the disorder as well as to the Xeroderma pigmentosum itself is the gene variation involved and its location. Treatment as well as the symptoms are the same. [read more]

  • Xeroderma Pigmentosum, Variant Type
    Variant type Xeroderma pigmentosum or XPV for brevity, is a complementary group of the disorder Xeroderma pigmentosum whereby the gene involved is the POLH located at the 6p21.1-p12. Usually person who has Xeroderma pigmentosum Variant type suffer from mutation of the gene that codes particular DNA polymerase named as the polymerase-? (eta) which are used when cells goes to a S-phase where there is a damage in the DNA. [read more]

  • Zellweger Syndrome
    Zellweger syndrome is a congenital disorder caused by reduced or absent peroxisomes in the cells of the liver, kidneys, and brain. Peroximes are cell structures that get rid of toxic substances in the body. The syndrome belongs to a group of peroxisomal diseases, which affect brain development and the growth of the myelin sheath on nerve fibers in the brain. [read more]

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