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Trichothiodystrophy

4 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 2

Partial androgen insensitivity syndrome

1 OMIM reference -
1 associated gene
9 signs/symptoms

Trichothiodystrophy

Partial androgen insensitivity syndrome

ERCC2	(UniProt - OMIM)		AR	(UniProt - OMIM)
ERCC3	(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		Partial androgen insensitivity syndrome
	Synonym(s): (no synonyms)		Synonym(s): - PAIS - Partial androgen resistance syndrome

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

	Classification (ICD10): - Diseases of the skin and subcutaneous tissue -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: unknown Average age onset: variable Average age of death: normal Type of inheritance: x-linked recessive

	External references: No OMIM references 2 MeSH references: C536559 / D054463		External references: 1 OMIM reference - No MeSH references

Partial androgen insensitivity syndrome
	Very frequent - Bifid scrotum - Hypospadias / epispadias / bent penis - Micropenis / small penis / agenesis - Sterility / hypofertility - Uterine / uterus / Fallopian tubes anomalies Frequent - Female pseudohermaphrodism / virilisation / clitoridomegaly - Testicular / seminal neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma) Occasional - Gynecomastia / breast / mammary gland enlargement / hyperplasia - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
Trichothiodystrophy
(no data available)