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Autosomal recessive limb-girdle muscular dystrophy type 2F
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Severe combined immunodeficiency due to adenosine deaminase deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
Autosomal recessive limb-girdle muscular dystrophy type 2F
Severe combined immunodeficiency due to adenosine deaminase deficiency

SGCD
(UniProt - OMIM)
 ADA
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
SGCD
(0.63)
ADA


Citations in the biomedical literature:


Autosomal recessive limb-girdle muscular dystrophy type 2F
SGCD
Severe combined immunodeficiency due to adenosine deaminase deficiency
ADA



Autosomal recessive limb-girdle muscular dystrophy type 2F
Severe combined immunodeficiency due to adenosine deaminase deficiency

Synonym(s):
- Delta-sarcoglycanopathy
- LGMD2F
- Limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency
Synonym(s):
- ADA deficiency
- SCID due to adenosine deaminase deficiency
Classification (Orphanet):
- Rare cardiac disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare immune disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C531816
No signs/symptoms info available.