Tyrosinemia, type II

Preferred Label : Tyrosinemia, type II;

Symbol : TYRSN2;

CISMeF acronym : TYRSN2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Tyrosine transaminase deficiency; Tyrosine aminotransferase deficiency; Richner-hanhart syndrome; Tyrosinosis, oculocutaneous type; Tat deficiency; Keratosis palmoplantaris with corneal dystrophy; Oregon type tyrosinemia;

Description : Tyrosinemia type II 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).;

Inheritance : Autosomal recessive;

Prefixed ID : #276600;

Details

Origin ID

276600;

UMLS CUI

C0268487;

Automatic exact mappings (from CISMeF team)
- tyrosinemias [MeSH Descriptor]
Currated CISMeF NLP mapping
- Deficiency of tyrosine aminotransferase (disorder) [SNOMED CT concept]
- Hypertyrosinemia, Richner-Hanhart type (disorder) [SNOMED CT concept]
- Tyrosinaemia type 2 [ICD-11 Sub-sub category]
- Tyrosinaemia type II [MedDRA LLT]
- Tyrosinemia Type II [NCIt concept]
- Tyrosinemia type 2 [ORDO Disease]
- Tyrosinemia type II [MedDRA LLT]
- tyrosinemia type II [DO Concept]
- tyrosinemia type II [Disease (Nov.)]
- tyrosinemia, type II [MeSH concept]
DO Cross reference
- tyrosinemia type II [DO Concept]
Genes related to phenotype
- Tyrosine aminotransferase [OMIM gene]
HPO term(s)
- 4-Hydroxyphenylpyruvic aciduria [HPO term]
- Abnormality of the skin [HPO term]
- Autosomal recessive inheritance [HPO term]
- Growth delay [HPO term]
- Herpetiform corneal ulceration [HPO term]
- Hypertyrosinemia [HPO term]
- Intellectual disability [HPO term]
NCIt concept(s)
- HIV TAT Gene [NCIt concept]
ORDO concept(s)
- Tyrosinemia type 2 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of tyrosine aminotransferase (disorder) [SNOMED CT concept]
- Hypertyrosinemia, Richner-Hanhart type (disorder) [SNOMED CT concept]
- Tyrosinaemia type 2 [ICD-11 Sub-sub category]
- Tyrosinaemia type II [MedDRA LLT]
- Tyrosinemia Type II [NCIt concept]
- Tyrosinemia type 2 [ORDO Disease]
- Tyrosinemia type II [MedDRA LLT]
- hypertyrosinemia, richner-hanhart type [SNOMED Notion]
- tyrosinemia type II [DO Concept]
- tyrosinemia type II [Disease (Nov.)]
- tyrosinemia, type II [MeSH concept]

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