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Items: 5

1.

Tyrosinemia type II

Tyrosinemia type II (TYRSN2) is an autosomal recessive disorder characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels. The disorder is caused by deficiency of hepatic tyrosine aminotransferase (Natt et al., 1992). [from OMIM]

MedGen UID:
75687
Concept ID:
C0268487
Disease or Syndrome
2.

Tyrosinemia type III

Tyrosinemia type III (TYRSN3) is an autosomal recessive disorder caused by a deficiency in the activity of 4-hydroxyphenylpyruvate dioxygenase (HPD) and is characterized by elevated levels of blood tyrosine and massive excretion of its derivatives into urine. Patients with this disorder have mild mental retardation and/or convulsions, with the absence of liver damage (summary by Tomoeda et al., 2000). [from OMIM]

MedGen UID:
78694
Concept ID:
C0268623
Disease or Syndrome
3.

Hawkinsinuria

Hawkinsinuria (HWKS) is an autosomal dominant inborn error of metabolism. Metabolic acidosis and tyrosinemia are transient, and symptoms improve within the first year of life. Patients continue to excrete the hawkinsin metabolite in their urine throughout life (Danks et al., 1975; Tomoeda et al., 2000). [from OMIM]

MedGen UID:
419319
Concept ID:
C2931042
Disease or Syndrome
4.

Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)

Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the TFAM gene. [from MONDO]

MedGen UID:
934657
Concept ID:
C4310690
Disease or Syndrome
5.

4-Hydroxyphenylpyruvic aciduria

Increased relative concentration of 4-hydroxyphenylpyruvic acid in the urine. [from HPO]

MedGen UID:
376416
Concept ID:
C1848678
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