Cytoscape Web
Click node...


4 OMIM references -
4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Hereditary sensory and autonomic neuropathy type 1
Congenital bilateral absence of vas deferens

ATL1 CFTR
ATL3
SPTLC1
SPTLC2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SPTLC1
(0.72)
CFTR



Citations in the biomedical literature:


Hereditary sensory and autonomic neuropathy type 1
ATL1 ATL3 SPTLC1 SPTLC2
Congenital bilateral absence of vas deferens
CFTR



Hereditary sensory and autonomic neuropathy type 1
Congenital bilateral absence of vas deferens

Synonym(s):
(no synonyms)

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

Classification (Orphanet):
- Inborn errors of metabolism
- 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: unknown
Average age onset: variable
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:
4 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C535984

No signs/symptoms info available.