Details of Disease | DrugMAP

General Information of Disease (ID: DISLE7HP)

Disease Name	TH-deficient dopa-responsive dystonia
Synonyms	Parkinsonism, infantile, autosomal recessive; dystonia, Dopa-responsive, autosomal recessive; DOPA responsive dystonia, autosomal recessive; Segawa syndrome, autosomal recessive; dystonia, DOPA responsive, autosomal recessive; DYT5b; autosomal recessive Segawa syndrome; Dopa-responsive dystonia, autosomal recessive; tyrosine hydroxylase-deficient dopa-responsive dystonia; dopa-responsive dystonia, autosomal recessive; Segawa syndrome, recessive; autosomal recessive dopa-responsive dystonia; Tyrosine Hydroxylase Deficiency
Definition	Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy.
Disease Hierarchy	DISCPWH9: Autosomal recessive disease DISQGNHK: Disorder of tyrosine metabolism DISD715V: Hereditary neurological disease DISSQ831: Tyrosine hydroxylase deficiency DISCW5GN: Dopa-responsive dystonia DISLE7HP: TH-deficient dopa-responsive dystonia
Disease Identifiers	MONDO ID MONDO_0011551 MESH ID C537537 UMLS CUI C2673535 MedGen ID 382128 Orphanet ID 101150

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GCH1	TTLSWP6	Limited	Genetic Variation	[1]
TH	TTUHP71	Definitive	Autosomal recessive	[2]
TH	TTUHP71	Definitive	Biomarker	[3]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TSPOAP1	OTAM8SGF	Supportive	Autosomal recessive	[4]
TH	OT6ZORKP	Definitive	Autosomal recessive	[2]
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References

1	A novel missense mutation pattern of the GCH1 gene in dopa-responsive dystonia.Arq Neuropsiquiatr. 2007 Dec;65(4B):1224-7. doi: 10.1590/s0004-282x2007000700026.
2	A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome. Hum Genet. 1995 Jan;95(1):123-5. doi: 10.1007/BF00225091.
3	Compound heterozygous mutations in the TH gene in a Chinese family with autosomal-recessive dopa-responsive dystonia: A case report.Medicine (Baltimore). 2018 Nov;97(44):e12870. doi: 10.1097/MD.0000000000012870.
4	Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia. J Clin Invest. 2021 Apr 1;131(7):e140625. doi: 10.1172/JCI140625.