loading...| 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 |
|
| 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 |