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Autosomal recessive limb-girdle muscular dystrophy type 2B
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Renal-hepatic-pancreatic dysplasia
2 OMIM references -
2 associated genes
No signs/symptoms info
Autosomal recessive limb-girdle muscular dystrophy type 2B
Renal-hepatic-pancreatic dysplasia

DYSF
(UniProt - OMIM)
 NEK8
(UniProt - OMIM)
NPHP3
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
DYSF
(0.63)
NPHP3


Citations in the biomedical literature:


Autosomal recessive limb-girdle muscular dystrophy type 2B
DYSF
Renal-hepatic-pancreatic dysplasia
NEK8 NPHP3



Autosomal recessive limb-girdle muscular dystrophy type 2B
Renal-hepatic-pancreatic dysplasia

Synonym(s):
- LGMD2B
- Limb-girdle muscular dystrophy due to dysferlin deficiency
Synonym(s):
- Ivemark II syndrome
- Renohepaticopancreatic dysplasia
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare renal disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: adulthood
Average age of death: normal
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
2 OMIM references -
No MeSH references
No signs/symptoms info available.