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Congenital bilateral absence of vas deferens

1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
12 signs/symptoms

Congenital bilateral absence of vas deferens

Darier disease

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CFTR	(0.72)	ATP2A2

Citations in the biomedical literature:

Congenital bilateral absence of vas deferens		Darier disease
	Synonym(s): - Congenital bilateral agenesis of vas deferens - Congenital bilateral aplasia of vas deferens		Synonym(s): - Darier-White disease - Keratosis follicularis

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare infertility - Rare urogenital disease		Classification (Orphanet): - Rare genetic disease - Rare skin 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: 1-9 / 100 000 Average age onset: variable Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C535984		External references: 1 OMIM reference - 1 MeSH reference: D007644

Darier disease
	Very frequent - Autosomal dominant inheritance - Follicular / erythematous / edematous papules / milium - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Nails anomalies - Pruritus / itching Frequent - Abnormal pigmentary skin changes / skin pigmentation anomalies - Enanthema / aphtosa / aphta / leukoplakia - Hair and scalp anomalies - Palmoplantar hyperkeratosis / keratoderma - Thick skin / pachydermia / orange skin Occasional - Macules - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment
Congenital bilateral absence of vas deferens
(no data available)