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Autosomal recessive limb girdle muscular dystrophy type 2A
1 OMIM reference -
1 associated gene
28 connected diseases
No signs/symptoms info
Disease Type of connection
Familial isolated dilated cardiomyopathy
Autosomal recessive centronuclear myopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Hereditary proximal myopathy with early respiratory failure
Tibial muscular dystrophy
Distal myopathy with posterior leg and anterior hand involvement
Muscle filaminopathy
2p21 microdeletion syndrome
2p21 microdeletion syndrome without cystinuria
Alpha-crystallinopathy
Atypical hypotonia - cystinuria syndrome
Digitotalar dysmorphism
Fatal infantile hypertonic myofibrillar myopathy
Hypotonia - cystinuria syndrome
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
Lethal congenital contracture syndrome type 3
Nodulosis-arthropathy-osteolysis syndrome
Posterior polar cataract
Torg-Winchester syndrome
Zonular cataract
Autosomal recessive limb-girdle muscular dystrophy type 2B
Congenital myopathy, Paradas type
Distal myopathy with anterior tibial onset
Miyoshi myopathy
Synonym(s):
- LGMD2A
- Limb girdle muscular dystrophy due to calpain deficiency
- Primary calpainopathy
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
CAPN3 P20807114240
No signs/symptoms info available.