Here you can look through thousands of and diseases, ailments, medical conditions and illnesses. You can find the symptoms. Read about any ailment's diagnosis and find medications that can be used and the correct treatments that are needed.
Diseases, Illnesses & Ailments Starting from Letter NUMBERS
- 11 Beta Hydroxylase Deficiency
It is important to understand what congenital adrenal hyperplasia (CAH) is before the nature of 11 beta hydroxylase deficiency can be fully explained. CAH refers to any one of the many autosomal recessive illnesses that result from flaws in cortisol synthesis steps done by the adrenal glands. All of the types of CAH have either overproduction or malfunctioning of sex steroids. 11 beta hydroxylase deficiency is just one of the types of CAH and is a result of mutation in the gene called CYP11B1. This type is next only to 21-hydroxylase deficiency when it comes to its prevalence, comprising only 5-8% of the entire number of cases. [read more] - 11 beta hydroxysteroid dehydrogenase type 2 deficiency
11Beta-hydroxysteroid dehydrogenase type 2 deficiency also known as (11beta-HSD2) is one of the most common causes of retention of sodium and serious cases of hypertension. This happens when glucocorticoids are admitted to the mineralocorticosteroid receptors which are non-selective. [read more] - 17 alpha hydroxylase deficiency
17 Alpha hydroxylase deficiency syndrome is a very rare disorder of the genes (specifically on steroid biosynthesis) which causes reduced production of sex steroids and glucocorticoids while the mineralocorticoid precursors are observed to have increased synthesis. It is, therefore, an autosomal recessive condition. The absence or deficiency of 17 hydroxylase results into many sexual malformations and illnesses. [read more] - 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] - 1p36 Deletion Syndrome, rare (NIH)
1p36 deletion syndrome also known as monosomy 1p36 is a disorder of the chromosomes in which chromosome 1 loses the end part of its short arm. This disorder was first depicted during the late 90's and the early parts of 2000's. FISH testing is often required to be able to confirm a diagnosis. This condition can occur as a ?pure' case or it can occur together with other imbalances of the chromosome. [read more] - 21 hydroxylase deficiency
21-hydroxylase deficiency is also called as congenital adrenal hyperplasia and is a disorder that is often inherited. This disorder affects the adrenal glands which are located above the kidneys and these glands produce hormones that are responsible for regulating many important human body functions. The two hormones, cortisol and aldosterone, are produced by an enzyme called the 21-hydroxylase. Patients that have 21-hydroxylase deficiency lack the 21-hydroxylase enzyme which then affects the cholesterol conversion to aldosterone and cortisol. When the precursors of these two hormones are stored excessively in the adrenal glands, they are changed into androgens (which are male sex hormones). Whether the patient is male or female, growth development could be hampered because of this deficiency. [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] - 3 beta hydroxysteroid dehydrogenase deficiency
3-Beta-hydroxysteroid dehydrogenase deficiency (3B HSD) is a very rare disorder of the genes involving steroid biosynthesis. This deficiency results into the decrease on the production of adrenal steroid groups which are inclusive of glucocorticoids, mineralocorticoids, and the sex steroids. A decrease on the secretion of mineralocorticoid would result into various salt wasting degrees in males and females. And for the 46 XY males, a deficiency in androgen would result into ambiguous genitals (the females are seen with enlarged clitoris). [read more] - 3 methylglutaconyl coa hydratase deficiency
The enzyme called 3-Methyl Glutaconyl-CoA Hydratase is involved in amino acid (Leucine) metabolism. This enzyme is located in the mitochondria together with other enzymes of catabolic leucine. When an individual has a deficiency of 3-Methyl Glutaconyl-CoA Hydratase, 3-methylglutaconic acid is excreted massively and the impaired leucine breaks down. Very few patients have been reported with this type of deficiency but its occurrence is a reality, nonetheless. There a few severe clinical cases that have been reported which resulted because of this deficiency. Some patients have developed severe cardiopulmonary manifestations as soon as they were born; others have been reported to have psychomotor retardation; other cases include hypotonia, seizures, spasticity and thriving failure. Carnitine levels are at their lowest with this deficiency occurs. There are also rare cases of recurrent acidosis (seen in cases of fasting that has been prolonged). There was also a reported case of speech retardation. [read more] - 3-hydroxyacyl-coa dehydrogenase deficiency
LCHAD or the long-chain 3-hydroxyacyl-CoA dehydrogenase is one of the components of the trifunctional protein of mitochondria. When a person becomes deficient of LCHAD activity, he will soon show various manifestations of his inherited condition. [read more] - 3-methyl crotonyl-coa carboxylase deficiency
3-Methylcrotonyl-CoA carboxylase deficiency is known by many names. It is also called as 3MCC deficiency, Methylcrotonylglycinuria type 1, or BMCC. This is a disorder that can be inherited where the human body becomes incapable of properly processing some proteins. Those who suffer from this deficiency have an insufficient supply of leucine-breaking enzyme. Leucine is an amino acid which is a protein base. [read more] - 3-methyl glutaconic aciduria
3-Methylglutaconic aciduria also known as MGA is a term that is used to depict at least 5 varying disorders which makes the body incapable of creating mitochondrial energy. Due to this impairment, 3-methylglutaric acid and 3-methylglutaconic acid create a buildup and their presence can be detected in the patient's urine. 3-Methylglutaconic acid, by classification, is an organic acid. The potency of this acid is made possible by the roles of the double carboxylic acids. The acid function makes the 3-methylglutaconic acid detectable. [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] - 3M Syndrome
3M syndrome is known by many names. It can also be called as Three M syndrome or dolicospondylic dysplasia; le Merrer syndrome or gloomy syndrome (because prevalent symptoms show malformities on the patients' faces). This is a very rare illness where only 32 patients have been reported to have acquired it. Its name originated from the names of the authors who first described the characteristics of the illness. The authors' names were Miller, J.D., Malvaux P. and the third is McKusick, V.A. No mental retardation has been mentioned as a result of 3M. This disorder is known as an autosomal recessive trait of the genes and can be inherited. [read more] - 46,xx gonadal dysgenesis epibulbar dermoid
46 Gonadal dysgenesis epibulbar dermoid can be best described as a female in her adolescent period that experiences no changes even during this age of puberty. This is because this disorder is a type of female hypogonadism. When this disorder is acquired, the ovaries do not develop and function to perform their duties. With this type of disorder, female patients experience a deficiency in their supply of estrogen while the LH and FSH levels are at their peak. It is advisable to give the patient hormonal treatments such as the introduction of estrogen and progesterone to the body. [read more] - 47 XXY Syndrome
47 XXY syndrome is popularly known as the Klinefelter's syndrome, or simply, the XXY syndrome. Chromosome aneuploidy causes the occurrence of this condition. The male patients develop an extra X chromosome. Typically, males should have one each of the X and the Y chromosomes. Patients who suffer from this condition have smaller testicles when compared to their normal male counterparts and thus, they acquire problems on infertility. There are very few symptoms to this syndrome and the cases vary among boys and men. The term for this illness was named after an endocrinologist, Harry Klinefelter. 1942 was the year when he first described the XXY syndrome. The patients who suffer with XXY syndrome are called XXY males or 47,XXY males. [read more] - 47 XYY Syndrome
The XYY syndrome should never be interchanged with the XXY syndrome which is popularly known as the Klinefelter's syndrome. XYY syndrome is a condition when a male patient acquires an extra Y chromosome in addition to the normal one X and one Y chromosomes. It is often argued whether the term ?syndrome' should be used in connection to the XYY condition since the patients' phenotypes are normal and they do not have knowledge of their karyotype. [read more] - 48,XXXX Syndrome
48 XXXX syndrome is a very rare disorder of the chromosomes where the normal XX combination becomes a quadruple X grouping. This condition is also called tetrasomy X, 48, XXXX or quadruple X and is only seen among females as there is no Y chromosome involved. The first occurrence of this disorder was discovered in 1961 and since then, there are about 100 reported cases globally. [read more] - 48,XXYY Syndrome
Previously known to be a variant or type of the Klinefelter's syndrome, this condition is an anomaly of the sex chromosome. The features usually include gynecomastia (having enlarged male breasts), ulcers of the skin, deformed craniofacial features, and being unusually tall. It is also believed to affect 1 in every 17,000 male babies that are born. XXYY is just one of the many variations of chromosomal defects which include the following: 47 xxy, xy, xxxxy, and xxxy; also the xyy. These syndromes affect males whereas female counterparts include the Turner syndrome and other varieties with added X chromosomes. [read more] - 49 XXXXX Syndrome
The 49 XXXXX syndrome (also called as Penta X or pentasomy X) is a chromosomal condition that affects females. In a normal setup, females have only two X chromosomes and anything beyond this is abnormal. In the case of Penta X syndrome, there are an additional three X chromosomes which now totals five. The three additional X chromosomes are the ones that cause multiple problems. These extra X chromosomes are formed together with the two healthy chromosomes inside the nucleus of the human body cells. [read more]