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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
Autosomal dominant spastic paraplegia type 13
Congenital bilateral absence of vas deferens

HSPD1 CFTR


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HSPD1
(0.72)
CFTR



Citations in the biomedical literature:


Autosomal dominant spastic paraplegia type 13
HSPD1
Congenital bilateral absence of vas deferens
CFTR



Autosomal dominant spastic paraplegia type 13
Congenital bilateral absence of vas deferens

Synonym(s):
- SPG13

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

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare infertility
- Rare urogenital 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: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: adolescence / young
Average age of death: normal
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
1 MeSH reference: C537485
External references:
1 OMIM reference -
1 MeSH reference: C535984

No signs/symptoms info available.