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Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Posterior polar cataract
7 OMIM references -
5 associated genes
No signs/symptoms info
Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency
Posterior polar cataract

DES
(UniProt - OMIM)
 CHMP4B
(UniProt - OMIM)
CRYAB
(UniProt - OMIM)
EPHA2
(UniProt - OMIM)
GJA3
(UniProt - OMIM)
PITX3
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
DES
(0.56)
CRYAB


Citations in the biomedical literature:


Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency
DES
Posterior polar cataract
CHMP4B CRYAB EPHA2 GJA3 PITX3



Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency
Posterior polar cataract

Synonym(s):
- LGMD2 due to desmin deficiency
Synonym(s):
- Posterior subcapsular cataract
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adolescence / young
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
7 OMIM references -
No MeSH references
No signs/symptoms info available.