ODCs

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
10 signs/symptoms

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

Testicular regression syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	EP300	(0.7)	SRY

Citations in the biomedical literature:

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency		Testicular regression syndrome
	Synonym(s): (no synonyms)		Synonym(s): - ETRS - Embryonic testicular regression syndrome - TRS - Vanishing testes syndrome - Vanishing testis syndrome

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare oncologic disease - Rare renal disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare infertility - Rare urogenital disease

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

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive

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

Testicular regression syndrome
	Very frequent - Ambiguous genitalia - Autosomal recessive inheritance - Late puberty / hypogonadism / hypogenitalism - Male internal genitalia anomaly / deferent ducts agenesis / ectopy / duplication - Male pseudohermaphrodism / lack of virilisation - Micropenis / small penis / agenesis - Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia - Sterility / hypofertility - Uterine / uterus / Fallopian tubes anomalies Occasional - Face / facial anomalies
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
(no data available)