Tyrosinemia, type III

Preferred Label : Tyrosinemia, type III;

Symbol : TYRSN3;

CISMeF acronym : TYRSN3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : 4-hydroxyphenylpyruvic acid oxidase deficiency; 4-hydroxyphenylpyruvate dioxygenase deficiency;

Description : 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 (Tomoeda et al., 2000). Patients with this disorder have mild mental retardation and/or convulsions, with the absence of liver damage.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD, 609695.0001);

Laboratory abnormalities : 4-hydroxyphenylpyruvic acid dioxygenase deficiency (HPD); Tyrosinemia; 4-hydroxyphenylpyruvic aciduria; 4-hydroxyphenyllactic aciduria; 4-hydroxyphenylacetic aciduria;

Prefixed ID : #276710;

Détails

Origin ID

276710;

UMLS CUI

C0268623;

Automatic exact mappings (from CISMeF team)
- Tyrosinaemia type III [MedDRA LLT]
- tyrosinemias [MeSH Descriptor]
Currated CISMeF NLP mapping
- 4-Hydroxyphenylpyruvate dioxygenase deficiency (disorder) [SNOMED CT concept]
- 4-hydroxyphenylpyruvate dioxygenase deficiency [SNOMED Notion]
- Tyrosinaemia type 3 [ICD-11 More detail]
- Tyrosinemia type 3 [ORDO Disease]
- Tyrosinemia type III [MedDRA LLT]
- Tyrosinemia type III (disorder) [SNOMED CT concept]
- tyrosinemia type III [DO Concept]
- tyrosinemia type III [Disease (Nov.)]
- tyrosinemia, type III [MeSH concept]
DO Cross reference
- tyrosinemia type III [DO Concept]
Genes related to phenotype
- 4-hydroxyphenylpyruvate dioxygenase [OMIM gene]
HPO term(s)
- 4-Hydroxyphenylpyruvic aciduria [HPO term]
- 4-hydroxyphenylacetic aciduria [HPO term]
- Abnormality of the liver [HPO term]
- Autosomal recessive inheritance [HPO term]
- Hypertyrosinemia [HPO term]
- Intellectual disability, mild [HPO term]
- Seizure [HPO term]
Not associated HPO term(s)
- Elevated hepatic transaminase [HPO term]
ORDO concept(s)
- Tyrosinemia type 3 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 4-Hydroxyphenylpyruvate dioxygenase deficiency (disorder) [SNOMED CT concept]
- 4-hydroxyphenylpyruvate dioxygenase deficiency [SNOMED Notion]
- Tyrosinaemia type 3 [ICD-11 More detail]
- Tyrosinaemia type III [MedDRA LLT]
- Tyrosinemia type 3 [ORDO Disease]
- Tyrosinemia type III [MedDRA LLT]
- Tyrosinemia type III (disorder) [SNOMED CT concept]
- tyrosinemia type III [DO Concept]
- tyrosinemia type III [Disease (Nov.)]
- tyrosinemia, type III [MeSH concept]

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