Details of Disease

General Information of Disease (ID: DISGH7NN)

Disease Name Tyrosinemia type III
Synonyms
4-Hydroxyphenylpyruvic acid oxidase deficiency; tyrosinemia type 3; 4-alpha hydroxyphenylpyruvate dioxygenase deficiency; tyrosinemia, type 3; 4-alpha hydroxyphenylpyruvic acid oxidase deficiency; TYRSN3; 4-Hydroxyphenylpyruvate dioxygenase deficiency; tyrosinemia, type III; tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency; tyrosinemia due to HPD deficiency; tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency; tyrosinemia type III
Definition
Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterized by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate.
Disease Hierarchy
DISI8Q9Q: Tyrosinemia
DISGH7NN: Tyrosinemia type III
Disease Identifiers
MONDO ID
MONDO_0010162
MESH ID
D020176
UMLS CUI
C0268623
OMIM ID
276710
MedGen ID
78694
Orphanet ID
69723
SNOMED CT ID
413356003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
HPD TT8DSFC moderate Biomarker [1]
HPD TT8DSFC Definitive Autosomal recessive [2]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FAH OTGZA1YR Strong Biomarker [3]
HPD OTDKD5EH Definitive Autosomal recessive [2]
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References

1 Tyrosinemia Type III detected via neonatal screening: management and outcome.Mol Genet Metab. 2012 Nov;107(3):605-7. doi: 10.1016/j.ymgme.2012.09.002. Epub 2012 Sep 7.
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.
3 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.