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1 OMIM reference -
1 associated gene
10 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3
1 OMIM reference -
1 associated gene
9 signs/symptoms
Testicular regression syndrome
Partial androgen insensitivity syndrome

SRY AR


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SRY
(0.87)
AR



Citations in the biomedical literature:


Testicular regression syndrome
SRY
Partial androgen insensitivity syndrome
AR



Testicular regression syndrome
Partial androgen insensitivity syndrome

Synonym(s):
- ETRS
- Embryonic testicular regression syndrome
- TRS
- Vanishing testes syndrome
- Vanishing testis syndrome

Synonym(s):
- PAIS
- Partial androgen resistance syndrome

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare infertility
- Rare urogenital 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):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: normal
Type of inheritance: x-linked recessive

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


COMMON
SIGNS
- Micropenis / small penis / agenesis
- Sterility / hypofertility
- Uterine / uterus / Fallopian tubes anomalies


Testicular regression syndrome
Partial androgen insensitivity 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
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia

Occasional
- Face / facial anomalies


Very frequent
- Bifid scrotum
- Hypospadias / epispadias / bent penis

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