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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/118800
http://purl.bioontology.org/ontology/OMIM/118800
|
|---|---|
| Preferred Name | PAROXYSMAL NONKINESIGENIC DYSKINESIA 1 |
| Synonyms |
CHOREOATHETOSIS, FAMILIAL PAROXYSMAL
DYT8
PNKD1
CHOREOATHETOSIS, NONKINESIGENIC
MOUNT-REBACK SYNDROME
PAROXYSMAL DYSTONIC CHOREOATHETOSIS
PDC
DYSTONIA 8
FPD1
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
CHOREOATHETOSIS, FAMILIAL PAROXYSMAL
DYT8
PNKD1
CHOREOATHETOSIS, NONKINESIGENIC
MOUNT-REBACK SYNDROME
PAROXYSMAL DYSTONIC CHOREOATHETOSIS
PDC
DYSTONIA 8
FPD1
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|---|---|
| prefLabel | PAROXYSMAL NONKINESIGENIC DYSKINESIA 1
|
| Gene Symbol |
PDC
PNKD
KIPP1184
TAHCCP2
BRP17
FPD1
DYT8
R1
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| Scope Statement | Onset in infancy or childhood [MISCELLANEOUS]
Frequency and severity of symptoms do not worsen with age [MISCELLANEOUS]
Symptoms precipitated by alcohol, caffeine, fatigue, stress, exertion, ovulation, menstruation [MISCELLANEOUS]
Caused by mutation in the PNKD metallo-beta-lactamase domain-containing protein gene (PNKD, 609023.0001) [MOLECULAR BASIS]
Clonazepam and diazepam may be effective in preventing or lessening severity [MISCELLANEOUS]
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| type | |
| Has manifestation |
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| tui | T047
|
| Gene Locus | 2q35
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 118800
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4551506
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| OMIM Entry Type | 3
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| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |