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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
3 OMIM references -
3 associated genes
No signs/symptoms info
Autosomal dominant limb-girdle muscular dystrophy type 1C
Familial sick sinus syndrome

CAV3 HCN4
MYH6
SCN5A


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CAV3
(0.63)
SCN5A



Citations in the biomedical literature:


Autosomal dominant limb-girdle muscular dystrophy type 1C
CAV3
Familial sick sinus syndrome
HCN4 MYH6 SCN5A



Autosomal dominant limb-girdle muscular dystrophy type 1C
Familial sick sinus syndrome

Synonym(s):
- LGMD1C
- Limb-girdle muscular dystrophy due to caveolin-3 deficiency

Synonym(s):
- Familial sinus node dysfunction

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

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
(no data available)

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

External references:
1 OMIM reference -
No MeSH references
External references:
3 OMIM references -
1 MeSH reference: D012804

No signs/symptoms info available.