Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
Preferred Name

DYSTONIA, DOPA-RESPONSIVE
Synonyms

DYT5

DYSTONIA, DOPA-RESPONSIVE, AUTOSOMAL DOMINANT

SEGAWA SYNDROME, AUTOSOMAL DOMINANT

DOPA-RESPONSIVE DYSTONIA, AUTOSOMAL DOMINANT

DYSTONIA, PROGRESSIVE, WITH DIURNAL VARIATION

DYSTONIA-PARKINSONISM WITH DIURNAL FLUCTUATION

DYSTONIA 5

DRD

ID

http://purl.bioontology.org/ontology/OMIM/128230

altLabel

DYT5

DYSTONIA, DOPA-RESPONSIVE, AUTOSOMAL DOMINANT

SEGAWA SYNDROME, AUTOSOMAL DOMINANT

DOPA-RESPONSIVE DYSTONIA, AUTOSOMAL DOMINANT

DYSTONIA, PROGRESSIVE, WITH DIURNAL VARIATION

DYSTONIA-PARKINSONISM WITH DIURNAL FLUCTUATION

DYSTONIA 5

DRD

cui

C1851920

Gene Locus

14q22.1-q22.2

Gene Symbol

HPABH4B

DYT5

GCH1

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU000474

http://purl.bioontology.org/ontology/OMIM/MTHU021138

http://purl.bioontology.org/ontology/OMIM/MTHU018510

http://purl.bioontology.org/ontology/OMIM/MTHU004323

http://purl.bioontology.org/ontology/OMIM/MTHU018513

http://purl.bioontology.org/ontology/OMIM/MTHU021139

http://purl.bioontology.org/ontology/OMIM/MTHU018509

http://purl.bioontology.org/ontology/OMIM/MTHU067126

http://purl.bioontology.org/ontology/OMIM/MTHU026634

http://purl.bioontology.org/ontology/OMIM/MTHU002917

http://purl.bioontology.org/ontology/OMIM/MTHU026632

http://purl.bioontology.org/ontology/OMIM/MTHU001153

http://purl.bioontology.org/ontology/OMIM/MTHU000036

http://purl.bioontology.org/ontology/OMIM/MTHU024968

http://purl.bioontology.org/ontology/OMIM/MTHU018514

http://purl.bioontology.org/ontology/OMIM/MTHU000335

http://purl.bioontology.org/ontology/OMIM/MTHU026635

http://purl.bioontology.org/ontology/OMIM/MTHU000764

http://purl.bioontology.org/ontology/OMIM/MTHU000140

http://purl.bioontology.org/ontology/OMIM/MTHU036372

http://purl.bioontology.org/ontology/OMIM/MTHU024975

http://purl.bioontology.org/ontology/OMIM/MTHU018512

MIMTYPEMEANING

Phenotype description, molecular basis known.

Moved from

607195

notation

128230

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

DYSTONIA, DOPA-RESPONSIVE

Scope Statement

Favorable response to BH4 [MISCELLANEOUS]

Favorable response to L-DOPA without side effects [MISCELLANEOUS]

Caused by mutation in the GTP cyclohydrolase I gene (GCH1, 600225.0001) [MOLECULAR BASIS]

Symptoms worsen with fatigue and exercise [MISCELLANEOUS]

Diurnal fluctuation, more apparent in earlier years, later subsides [MISCELLANEOUS]

Defect in tetrahydrobiopterin (BH4) synthesis [MISCELLANEOUS]

Age-related clinical course [MISCELLANEOUS]

Onset in childhood (6-7 years) [MISCELLANEOUS]

Autosomal recessive inheritance with earlier onset has been reported in 3 patients [MISCELLANEOUS]

Clinical heterogeneity [MISCELLANEOUS]

Genetic heterogeneity (see 605407) [MISCELLANEOUS]

Female predominance (4:1) [MISCELLANEOUS]

See also autosomal recessive BH4-dependent hyperphenylalaninemia (233910), an allelic disorder with a more severe phenotype [MISCELLANEOUS]

tui

T047

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