Hypokalemic periodic paralysis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Westphall disease |
| Number of Symptoms | 6 |
| OrphanetNr: | 681 |
| OMIM Id: |
170400
613345 |
| ICD-10: |
G72.3 |
| UMLs: |
C0238358 |
| MeSH: |
D020514 |
| MedDRA: |
|
| Snomed: |
240093008 82732003 |
Prevalence, inheritance and age of onset:
| Prevalence: | 1 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic muscular channelopathy
-Rare genetic disease Genetic periodic paralysis -Rare genetic disease -Rare neurologic disease Muscular channelopathy -Rare neurologic disease Periodic paralysis -Rare genetic disease -Rare neurologic disease |
Symptom Information:
|
|
(HPO:0007215) | Periodic hyperkalemic paralysis | 3 / 7739 | ||||
|
|
(HPO:0002900) | Hypokalemia | 45 / 7739 | ||||
|
|
(HPO:0003198) | Myopathy | occasional [HPO:skoehler] | 151 / 7739 | |||
|
|
(HPO:0003752) | Episodic flaccid weakness | 3 / 7739 | ||||
|
|
(HPO:0003829) | Incomplete penetrance | 85 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|