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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
18 signs/symptoms
Congenital bilateral absence of vas deferens
Nance-Horan syndrome

CFTR NHS


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CFTR
(0.56)
NHS



Citations in the biomedical literature:


Congenital bilateral absence of vas deferens
CFTR
Nance-Horan syndrome
NHS



Congenital bilateral absence of vas deferens
Nance-Horan syndrome

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

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare infertility
- Rare urogenital disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare odontologic 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:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: x-linked dominant

External references:
1 OMIM reference -
1 MeSH reference: C535984
External references:
1 OMIM reference -
1 MeSH reference: C538336

Nance-Horan syndrome

Very frequent
- Anomalies of teeth and dentition
- Cataract / lens opacification
- High nasal bridge
- Long face
- Long / large / bulbous nose
- Microcornea
- Nystagmus
- Prognathism / prognathia
- Visual loss / blindness / amblyopia

Frequent
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Metacarpal anomalies / Archibald's sign
- Prominent / bat ears
- Strabismus / squint
- Supernumerary teeth / polyodontia

Occasional
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Glaucoma
- Psychic / behavioural troubles
- Retinal detachment


Congenital bilateral absence of vas deferens

(no data available)