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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
5 OMIM references -
4 associated genes
1 sign/symptom
Autosomal dominant limb-girdle muscular dystrophy type 1C
Familial progressive cardiac conduction defect

CAV3 NKX2-5
SCN1B
SCN5A
TRPM4


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 progressive cardiac conduction defect
NKX2-5 SCN1B SCN5A TRPM4



Autosomal dominant limb-girdle muscular dystrophy type 1C
Familial progressive cardiac conduction defect

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

Synonym(s):
- Familial Lenègre disease
- Familial Lev disease
- Familial Lev-Lenègre disease
- Familial PCCD
- Familial progressive heart block
- Hereditary bundle branch defect

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):
- Diseases of the circulatory system -

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: adulthood
Average age of death: elderly
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
5 OMIM references -
No MeSH references

Familial progressive cardiac conduction defect

Frequent
- Cardiac rhythm disorder / arrhythmia



Autosomal dominant limb-girdle muscular dystrophy type 1C

(no data available)