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Autosomal dominant limb-girdle muscular dystrophy type 1C
1 OMIM reference -
1 associated gene
33 connected diseases
No signs/symptoms info
Disease Type of connection
Romano-Ward syndrome
Rippling muscle disease
Idiopathic hypereosinophilic syndrome
Autosomal recessive limb-girdle muscular dystrophy type 2P
Muscle-eye-brain disease with bilateral multicystic leucodystrophy
Giant cell glioblastoma
Gliosarcoma
Bilateral striopallidodentate calcinosis
Chronic myelomonocytic leukemia
Gastrointestinal stromal tumor
Infantile myofibromatosis
Myeloid neoplasm associated with PDGFRA rearrangement
Myeloid neoplasm associated with PDGFRB rearrangement
Precursor B-cell acute lymphoblastic leukemia
Unclassified chronic myeloproliferative disease
Autosomal recessive limb-girdle muscular dystrophy type 2B
Congenital myopathy, Paradas type
Distal myopathy with anterior tibial onset
Glycogen storage disease due to muscle phosphofructokinase deficiency
Miyoshi myopathy
Atrial stand still
Brugada syndrome
Familial atrial fibrillation
Familial isolated dilated cardiomyopathy
Familial progressive cardiac conduction defect
Familial short QT syndrome
Familial sick sinus syndrome
Generalized epilepsy - paroxysmal dyskinesia
Idiopathic ventricular fibrillation, not Brugada type
Hyperinsulinism due to INSR deficiency
Insulin-resistance syndrome type A
Leprechaunism
Rabson-Mendenhall syndrome
Synonym(s):
- LGMD1C
- Limb-girdle muscular dystrophy due to caveolin-3 deficiency
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
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:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
CAV3 P56539601253
No signs/symptoms info available.