Details of Disease

General Information of Disease (ID: DISP4OS8)

Disease Name Tyrosinemia type I
Synonyms
tyrosinemia, type 1; TYRSN1; tyrosinemia, type I; tyrosinemia type 1; Fah deficiency; Tyrosinemia Type 1; fumarylacetoacetate hydrolase deficiency; FAH deficiency; fumarylacetoacetase deficiency; tyrosinemia type I; type I tyrosinemia; hepatorenal tyrosinemia
Definition
Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone.
Disease Hierarchy
DISI8Q9Q: Tyrosinemia
DISP4OS8: Tyrosinemia type I
Disease Identifiers
MONDO ID
MONDO_0010161
MESH ID
D020176
UMLS CUI
C0268490
OMIM ID
276700
MedGen ID
75688
Orphanet ID
882
SNOMED CT ID
124536006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
HPD TT8DSFC Strong Biomarker [1]
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This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
GSTZ1 DEQPEMB Strong Genetic Variation [2]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
REEP5 OTZU4TJI Strong Biomarker [3]
FAH OTGZA1YR Definitive Autosomal recessive [4]
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References

1 Hydrophobicity-oriented drug design (HODD) of new human 4-hydroxyphenylpyruvate dioxygenase inhibitors.Eur J Med Chem. 2019 Mar 15;166:22-31. doi: 10.1016/j.ejmech.2019.01.032. Epub 2019 Jan 14.
2 Gene structure, chromosomal location, and expression pattern of maleylacetoacetate isomerase.Genomics. 1999 Jun 15;58(3):263-9. doi: 10.1006/geno.1999.5832.
3 Impaired DNA repair and genomic stability in hereditary tyrosinemia type 1.Gene. 2012 Mar 1;495(1):56-61. doi: 10.1016/j.gene.2011.12.021. Epub 2011 Dec 23.
4 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.