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Familial hypospadias

4 OMIM references -
2 associated genes
1 sign/symptom

PROTEIN INTERACTIONS: 1

Isolated aniridia

1 OMIM reference -
1 associated gene
8 signs/symptoms

Familial hypospadias

Isolated aniridia

AR	(UniProt - OMIM)		PAX6	(UniProt - OMIM)
MAMLD1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	AR	(0.87)	PAX6

Citations in the biomedical literature:

Familial hypospadias		Isolated aniridia

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare urogenital disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease

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

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant

	External references: 4 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references

Familial hypospadias		Isolated aniridia
	Very frequent - Hypospadias / epispadias / bent penis		Very frequent - Aniridia / iris hypoplasia - Autosomal dominant inheritance - Macular dystrophy / absence / hypoplasia of the macula - Nystagmus - Visual loss / blindness / amblyopia Frequent - Cataract / lens opacification - Corneal clouding / opacity / vascularisation - Glaucoma