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3-methylglutaconyl-CoA hydratase deficiency

3-methylglutaconic aciduria type I
Disease Type: Rare Condition or Disease Genetic, autosomal recessive Pediatric onset Developmental disability (both intellectual and physical disabilities)
3-methylglutaconic aciduria type 1 (3MGA1) is a genetic disorder in which the body cannot get energy from a substance called leucine. Leucine is one of the amino acids, which are the building blocks of proteins in our bodies. Because people with 3MGA1 can’t break down leucine for energy to support muscle function and growth, they have a variety of symptoms ...
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4 alpha aminobutyrate transaminase deficiency

Gamma-aminobutyric acid transaminase deficiencyGABA transaminase deficiencyGamma aminoutyrate transaminase deficiency
Gamma-aminobutyric acid transaminase (GABA-T) deficiency is an extremely rare disorder that has only been reported in 5 patients in 3 families. This condition involves a problem with a substance called GABA-T, which plays an important role in slowing down the activity of cells in the brain. In GABA-T deficiency, there is a lack of GABA-T, which causes a ...
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4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency

Hawkinsinuria
Disease Type: Rare Condition or Disease Genetic, autosomal dominant Congenital onset
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4-enoyl CoA reductase deficiency

2,4-dienoyl-CoA reductase deficiencyDE RED2,4-Dienoyl-coenzyme A reductase deficiencyDECRDienoyl-CoA reductase deficiency
Disease Type: Rare Condition or Disease Genetic, autosomal recessive Pediatric onset
2,4-dienoyl-CoA reductase deficiency (DE RED) is a rare genetic disorder caused by a mutation (change) to the NADK2 gene. DE RED prevents the body from being able to break down fats. Fats are broken down by an enzyme (type of protein) called 2,4-dienoyl-CoA reductase (DECR). DECR needs another molecule called NADP to help start the process. And NADP is made ...
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4-Hydroxyphenylacetic Aciduria

4-hydroxyphenylacetic aciduria is a condition characterized by a deficiency of 4-hydroxyphenylpyruvic acid oxidase (an enzyme), which causes an excess of 4-hydroxyphenylacetic acid (an acid) in your urine. Symptoms may include: mild mental retardation, seizures, and loss of balance or coordination.
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4-Hydroxyphenylpyruvate dioxygenase deficiency

Tyrosinemia type 3
Disease Type: Genetic, autosomal recessive Pediatric onset Intellectual disability (no physical disability)
Tyrosinemia, type III (TYR III) is a rare genetic condition. TYR III results from a mutation or error in a person’s DNA or genes. Due to this mistake, people with TYR III have problems breaking down certain protein building blocks called amino acids. TYR III occurs when the body either does not make enough or makes non-working TYR III ...
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46, XY disorders of sexual development

Disease Type: Rare Condition or Disease Chromosomal
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46,XX Gonadal Dysgenesis Epibulbar Dermoid

Disease Type: Rare Condition or Disease
46 XX gondal dysgenesis epibulbar dermoid is a rare genetic condition. This condition results from a mutation or error in a person’s DNA or genes. This can cause birth defects such as infertility and no secondary sex characteristics, as well as epibulbar dermoid (an eye disorder), deafness, and skin tags. Although there is currently no cure for 46 XX gondal ...
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5-Alpha Reductase Deficiency

Pseudovaginal perineoscrotal hypospadias
Disease Type: Genetic, autosomal recessive Pediatric onset
5-alpha reductase deficiency is an inherited condition that primarily affects male sexual development before birth and during puberty. People with this condition are genetically male, with one X and one Y chromosome in each cell, and they have male gonads (testes). Their bodies, however, do not produce enough of a hormone called dihydrotestosterone (DHT), which is critical for male sexual development. Most ...
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