Cytoscape Web
Click node...


2 OMIM references -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
4 signs/symptoms
Hypokalemic periodic paralysis
Central core disease

CACNA1S RYR1
KCNE3
SCN4A


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CACNA1S
(0.62)
RYR1



Citations in the biomedical literature:


Hypokalemic periodic paralysis
CACNA1S KCNE3 SCN4A
Central core disease
RYR1



Hypokalemic periodic paralysis
Central core disease

Synonym(s):
- Westphall disease

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
2 OMIM references -
1 MeSH reference: D020514
External references:
1 OMIM reference -
No MeSH references

Central core disease

Very frequent
- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase
- Autosomal dominant inheritance
- Hypotonia
- Myopathy



Hypokalemic periodic paralysis

(no data available)