Details of Disease

General Information of Disease (ID: DISI8Q9Q)

• Disease Name: Tyrosinemia
• Definition: An autosomal recessive inherited metabolic disorder caused by mutations in the FAH, HPD, and TAT genes. It is characterized by deficiency of one of the enzymes that are involved in the metabolism of tyrosine. It results in elevated blood tyrosine levels and accumulation of tyrosine and its byproducts in the liver, kidney, nervous system and other organs.
• Disease Hierarchy:
  DISFWXCM: Inborn disorder of amino acid metabolism
  DISQGNHK: Disorder of tyrosine metabolism
  DISI8Q9Q: Tyrosinemia
• Disease Identifiers:
  MONDO ID: MONDO_0004741
  UMLS CUI: C0268483
  MedGen ID: 78682
  SNOMED CT ID: 190694001

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
HPD	TT8DSFC	Limited	Genetic Variation	[1]
STK33	TTP34DQ	Limited	Altered Expression	[2]

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PELI1	OTMLBCLC	Limited	Altered Expression	[2]
TTC36	OT90ZLHE	Limited	Altered Expression	[2]
TAT	OT2CJ91O	moderate	Genetic Variation	[3]
SACS	OTZGXQ8A	Definitive	Altered Expression	[4]

References

• [1] HPD overexpression predicts poor prognosis in breast cancer.Pathol Res Pract. 2019 Sep;215(9):152524. doi: 10.1016/j.prp.2019.152524. Epub 2019 Jun 28.
• [2] HPD degradation regulated by the TTC36-STK33-PELI1 signaling axis induces tyrosinemia and neurological damage.Nat Commun. 2019 Sep 19;10(1):4266. doi: 10.1038/s41467-019-12011-0.
• [3] TAT gene mutation analysis in three Palestinian kindreds with oculocutaneous tyrosinaemia type II; characterization of a silent exonic transversion that causes complete missplicing by exon 11 skipping.J Inherit Metab Dis. 2006 Oct;29(5):620-6. doi: 10.1007/s10545-006-0407-8. Epub 2006 Aug 17.
• [4] Human genetics: lessons from Quebec populations.Annu Rev Genomics Hum Genet. 2001;2:69-101. doi: 10.1146/annurev.genom.2.1.69.