Tyrosinemia, Type Iii (TYRSN3)

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Disease Ontology 12 DOID:0050727 OMIM 56 276710 OMIM Phenotypic Series 56 PS276700 MeSH 43 D020176 ICD10 via Orphanet 33 E70.2

UMLS via Orphanet 72 C0268623 Orphanet 58 ORPHA69723 MedGen 41 C0268623 SNOMED-CT via HPO 68 128613002 235856003 246545002 258211005 313307000 56595005 84757009 86765009 91175000 more UMLS 71 C0268623

NIH Rare Diseases : ⁵² Tyrosinemia type 3 is a genetic disorder characterized by elevated blood levels of the amino acid tyrosine, a building block of most proteins . This condition is caused by a deficiency of the enzyme 4-hydroxyphenylpyruvate dioxygenase, one of the enzymes required for the multi-step process that breaks down tyrosine. This enzyme shortage is caused by mutations in the HPD gene . Characteristic features include intellectual disability , seizures , and periodic loss of balance and coordination (intermittent ataxia ). Tyrosinemia type 3 is inherited in an autosomal recessive manner.

MalaCards based summary : Tyrosinemia, Type Iii, also known as tyrosinemia type iii, is related to tyrosinemia and abdominal obesity-metabolic syndrome 1, and has symptoms including seizures An important gene associated with Tyrosinemia, Type Iii is HPD (4-Hydroxyphenylpyruvate Dioxygenase), and among its related pathways/superpathways are Metabolism and Viral mRNA Translation. Affiliated tissues include liver, kidney and neutrophil, and related phenotypes are seizures and intellectual disability, mild

Disease Ontology : ¹² A tyrosinemia that has material basis in deficiency of 4-hydroxyphenylpyruvate dioxygenase disrupting the break down of tyrosine.

OMIM : ⁵⁶ Tyrosinemia type III 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). (276710)

UniProtKB/Swiss-Prot : ⁷³ Tyrosinemia 3: An inborn error of metabolism characterized by elevations of tyrosine in the blood and urine, seizures and mild mental retardation.

Wikipedia : ⁷⁴ Tyrosinemia type III is a rare disorder caused by a deficiency of the enzyme 4-hydroxyphenylpyruvate... more...

Clinical features from OMIM:

276710

Search Clinical Trials , NIH Clinical Center for Tyrosinemia, Type Iii

Search GEO for disease gene expression data for Tyrosinemia, Type Iii.