Cytoscape Web
Click node...

Generalized epilepsy - paroxysmal dyskinesia
1 OMIM reference -
1 associated gene
14 connected diseases
No signs/symptoms info
Disease Type of connection
Bleeding diathesis due to thromboxane synthesis deficiency
Congenital analbuminemia
Autosomal dominant limb-girdle muscular dystrophy type 1C
Berardinelli-Seip congenital lipodystrophy
Diffuse cutaneous systemic sclerosis
Familial thoracic aortic aneurysm and aortic dissection
Familial visceral myopathy
Heritable pulmonary arterial hypertension
Limited cutaneous systemic sclerosis
Moyamoya disease
Rippling muscle disease
Romano-Ward syndrome
Childhood absence epilepsy
Gamma-glutamyl transpeptidase deficiency
Synonym(s):
- GEPD
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
KCNMA1 Q12791600150
No signs/symptoms info available.