loading...| Preferred Name |
PAROXYSMAL NONKINESIGENIC DYSKINESIA 1 |
|
| Synonyms |
CHOREOATHETOSIS, FAMILIAL PAROXYSMAL |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/118800 |
|
| altLabel |
CHOREOATHETOSIS, FAMILIAL PAROXYSMAL DYT8 PNKD1 CHOREOATHETOSIS, NONKINESIGENIC MOUNT-REBACK SYNDROME PAROXYSMAL DYSTONIC CHOREOATHETOSIS PDC DYSTONIA 8 FPD1 |
|
| cui |
C4551506 |
|
| Gene Locus |
2q35 |
|
| Gene Symbol |
PDC PNKD KIPP1184 TAHCCP2 BRP17 FPD1 DYT8 R1 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU012558 http://purl.bioontology.org/ontology/OMIM/MTHU018523 http://purl.bioontology.org/ontology/OMIM/MTHU018933 http://purl.bioontology.org/ontology/OMIM/MTHU018935 http://purl.bioontology.org/ontology/OMIM/MTHU018936 http://purl.bioontology.org/ontology/OMIM/MTHU036443 http://purl.bioontology.org/ontology/OMIM/MTHU000283 http://purl.bioontology.org/ontology/OMIM/MTHU018934 http://purl.bioontology.org/ontology/OMIM/MTHU002917 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
118800 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
PAROXYSMAL NONKINESIGENIC DYSKINESIA 1 |
|
| 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] |
|
| tui |
T047 |