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1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Autosomal dominant limb-girdle muscular dystrophy type 1E
Skin fragility-woolly hair-palmoplantar keratoderma syndrome

DES DSP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
DES
(0.78)
DSP



Citations in the biomedical literature:


Autosomal dominant limb-girdle muscular dystrophy type 1E
DES
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
DSP



Autosomal dominant limb-girdle muscular dystrophy type 1E
Skin fragility-woolly hair-palmoplantar keratoderma syndrome

Synonym(s):
- LGMD1E

Synonym(s):
- Skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare skin 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: adulthood
Average age of death: no data available
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant

External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.