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Familial hypospadias

4 OMIM references -
2 associated genes
1 sign/symptom

PROTEIN INTERACTIONS: 1

5q35 microduplication syndrome

1 associated gene
6 signs/symptoms

Familial hypospadias

5q35 microduplication syndrome

AR	(UniProt - OMIM)		NSD1	(UniProt - OMIM)
MAMLD1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	AR	(0.89)	NSD1

Citations in the biomedical literature:

Familial hypospadias		5q35 microduplication syndrome
	Synonym(s): (no synonyms)		Synonym(s): - Dup(5)(q35) - Trisomy 5q35

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare urogenital disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - 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 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: sporadic

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

Familial hypospadias		5q35 microduplication syndrome
	Very frequent - Hypospadias / epispadias / bent penis		Very frequent - Intellectual deficit / mental / psychomotor retardation / learning disability - Microcephaly - Short stature / dwarfism / nanism Frequent - Delayed bone age - Myopia - Psychic / behavioural troubles