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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
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

CFTR CBL


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CFTR
(0.73)
CBL



Citations in the biomedical literature:


Congenital bilateral absence of vas deferens
CFTR
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
CBL



Congenital bilateral absence of vas deferens
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

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

Synonym(s):
- CBL syndrome
- Noonan syndrome-like disorder with JMML

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare infertility
- Rare urogenital disease
Classification (Orphanet):
- Rare cardiac disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare oncologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

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:
(no data available)

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

No signs/symptoms info available.