Details of Disease

General Information of Disease (ID: DIS4CW3M)

Disease Name Tyrosinemia type II
Synonyms
Oregon type tyrosinemia; tyrosine transaminase deficiency; tyrosinemia, type 2; Tyrosinosis oculocutaneous type; Tyrosinosis, oculocutaneous type; tyrosinemia, type II; TYRSN2; keratosis palmoplantaris with corneal dystrophy; Richner Hanhart syndrome; Tat deficiency; tyrosine aminotransferase deficiency; tyrosinemia type 2; oculocutaneous tyrosinemia; Richner-Hanhart syndrome; keratosis palmoplantaris-corneal dystrophy syndrome; tyrosinemia due to tyrosine aminotransferase deficiency; tyrosinemia type II; tyrosinemia due to TAT deficiency
Definition Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit.
Disease Hierarchy
DISB52BH: Eye disorder
DISI8Q9Q: Tyrosinemia
DISGLKBI: Focal palmoplantar keratoderma
DIS4CW3M: Tyrosinemia type II
Disease Identifiers
MONDO ID
MONDO_0010160
MESH ID
D020176
UMLS CUI
C0268487
OMIM ID
276600
MedGen ID
75687
Orphanet ID
28378
SNOMED CT ID
124287008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FAH OTGZA1YR Strong Biomarker [1]
TAT OT2CJ91O Definitive Autosomal recessive [2]
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References

1 Functional analysis and in vitro correction of splicing FAH mutations causing tyrosinemia type I. Clin Genet. 2014 Aug;86(2):167-71. doi: 10.1111/cge.12243. Epub 2013 Aug 21.
2 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.