Details of Disease | DrugMAP

General Information of Disease (ID: DISSQ831)

Disease Name	Tyrosine hydroxylase deficiency
Synonyms	tyrosine hydroxylase deficiency; tyrosine 3-monooxygenase deficiency; TH deficiency; tyrosine Hydroxylase deficiency
Definition	Tyrosine hydroxylase (TH) deficiency is an autosomal recessive disorder characterized by a spectrum of phenotypic features, based on severity and response to levodopa. It can be broadly categorized into TH-deficient dopa-responsive dystonia (mild, with dramatic and sustained response to levodopa), TH-deficiency infantile parkinsonism with motor delay (severe, with incomplete response to levodopa), and TH-deficiency infantile encephalopathy (very severe, with little to no response to levodopa).
Disease Hierarchy	DISJ5YRX: Inborn disorder of neurotransmitter metabolism and transport DISSQ831: Tyrosine hydroxylase deficiency
Disease Identifiers	MONDO ID MONDO_0100064 MESH ID C537537 UMLS CUI C5700309 OMIM ID 605407 MedGen ID 1814581 SNOMED CT ID 715827001

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
TH	TTUHP71	Definitive	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TH	OT6ZORKP	Definitive	Autosomal recessive	[1]
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References

1	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.