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

CACNA2D1 CAV3
KCNH2
KCNJ2
KCNQ1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
KCNH2
(0.63)
CAV3



Citations in the biomedical literature:


Familial short QT syndrome
CACNA2D1 KCNH2 KCNJ2 KCNQ1
Autosomal dominant limb-girdle muscular dystrophy type 1C
CAV3



Familial short QT syndrome
Autosomal dominant limb-girdle muscular dystrophy type 1C

Synonym(s):
- SQTS

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

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

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

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

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

No signs/symptoms info available.