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Trichothiodystrophy

4 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 2

Familial hypospadias

4 OMIM references -
2 associated genes
1 sign/symptom

Trichothiodystrophy

Familial hypospadias

ERCC2	(UniProt - OMIM)		AR	(UniProt - OMIM)
ERCC3	(UniProt - OMIM)		MAMLD1	(UniProt - OMIM)
GTF2H5	(UniProt - OMIM)
MPLKIP	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ERCC3 ERCC2	(0.75) (0.56)	AR AR

Citations in the biomedical literature:

Trichothiodystrophy		Familial hypospadias

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

	Classification (ICD10): - Diseases of the skin and subcutaneous tissue -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: No OMIM references 2 MeSH references: C536559 / D054463		External references: 4 OMIM references - No MeSH references

Familial hypospadias
	Very frequent - Hypospadias / epispadias / bent penis
Trichothiodystrophy
(no data available)