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Estrogen resistance syndrome
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Autosomal recessive limb-girdle muscular dystrophy type 2Q
1 OMIM reference -
1 associated gene
No signs/symptoms info
Estrogen resistance syndrome
Autosomal recessive limb-girdle muscular dystrophy type 2Q

ESR1
(UniProt - OMIM)
 PLEC
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
ESR1
(0.67)
PLEC


Citations in the biomedical literature:


Estrogen resistance syndrome
ESR1
Autosomal recessive limb-girdle muscular dystrophy type 2Q
PLEC



Estrogen resistance syndrome
Autosomal recessive limb-girdle muscular dystrophy type 2Q

Synonym(s):
(no synonyms)

Synonym(s):
- Autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency
- LGMD2Q
Classification (Orphanet):
(no data available)
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.