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1 OMIM reference -
5 associated genes
9 signs/symptoms
COMMON GENES: 1
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Cystic fibrosis
Congenital bilateral absence of vas deferens

CFTR CFTR
CLCA4
DCTN4
STX1A
TGFB1


COMMON
GENES
CFTR


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
STX1A
(0.88)
CFTR



Citations in the biomedical literature:


Cystic fibrosis
CFTR CLCA4 DCTN4 STX1A TGFB1
Congenital bilateral absence of vas deferens



Cystic fibrosis
Congenital bilateral absence of vas deferens

Synonym(s):
- CF
- Mucoviscidosis

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

Classification (Orphanet):
- Rare gastroenterologic disease
- Rare genetic disease
- Rare infertility
- Rare respiratory disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare infertility
- Rare urogenital disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: neonatal/infancy
Average age of death: young adult
Type of inheritance: autosomal recessive
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: D003550
External references:
1 OMIM reference -
1 MeSH reference: C535984

Cystic fibrosis

Very frequent
- Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency
- Autosomal recessive inheritance
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Lung fibrosis
- Malabsorption / chronic diarrhea / steatorrhea
- Repeat respiratory infections
- Structural anomalies of the liver and the biliary tract
- Structural anomalies of the pancreas

Occasional
- Hepatomegaly / liver enlargement (excluding storage disease)


Congenital bilateral absence of vas deferens

(no data available)