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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Congenital bilateral absence of vas deferens
Severe dermatitis-multiple allergies-metabolic wasting syndrome

CFTR DSG1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CFTR
(0.63)
DSG1



Citations in the biomedical literature:


Congenital bilateral absence of vas deferens
CFTR
Severe dermatitis-multiple allergies-metabolic wasting syndrome
DSG1



Congenital bilateral absence of vas deferens
Severe dermatitis-multiple allergies-metabolic wasting syndrome

Synonym(s):
- Congenital bilateral agenesis of vas deferens
- Congenital bilateral aplasia of vas deferens

Synonym(s):
- SAM syndrome

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare infertility
- Rare urogenital disease
Classification (Orphanet):
- Rare allergic disease
- Rare genetic disease
- Rare immune disease
- Rare skin disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: adolescence / young
Average age of death: normal
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
1 MeSH reference: C535984
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.