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5 OMIM references -
7 associated genes
9 signs/symptoms
PROTEIN INTERACTIONS: 3
COMMON SIGNS: 1
2 OMIM references -
1 associated gene
14 signs/symptoms
46,XY partial gonadal dysgenesis
Complete androgen insensitivity syndrome

GATA4 AR
MAP3K1
NR0B1
NR5A1
SRY
WT1
WWOX


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SRY
NR0B1
NR5A1
(0.87)
(0.85)
(0.52)
AR
AR
AR



Citations in the biomedical literature:


46,XY partial gonadal dysgenesis
GATA4 MAP3K1 NR0B1 NR5A1 SRY WT1
WWOX
Complete androgen insensitivity syndrome
AR



46,XY partial gonadal dysgenesis
Complete androgen insensitivity syndrome

Synonym(s):
- 46,XY PGD
- 46,XY partial testicular dysgenesis

Synonym(s):
- CAIS
- Complete androgen resistance syndrome

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric 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: unknown
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: sporadic
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: normal
Type of inheritance: x-linked recessive

External references:
5 OMIM references -
No MeSH references
External references:
2 OMIM references -
No MeSH references


COMMON
SIGNS
- Testicular / seminal neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)


46,XY partial gonadal dysgenesis
Complete androgen insensitivity syndrome

Very frequent
- Ambiguous genitalia
- Female pseudohermaphrodism / virilisation / clitoridomegaly
- Hypospadias / epispadias / bent penis
- Micropenis / small penis / agenesis
- Mixed gonadal dysgenesis
- Testis anomalies

Occasional
- Cortico-adrenal hypoplasia / insufficiency
- Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)


Very frequent
- Decreased body hair / axillar / pubic hairlessness
- Male pseudohermaphrodism / lack of virilisation
- Primary amenorrhea
- Sterility / hypofertility
- Tall stature / gigantism / growth acceleration
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Uterine / uterus / Fallopian tubes anomalies

Frequent
- Inguinal / inguinoscrotal / crural hernia
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets

Occasional
- Contractures / cramps / trismus / tetania / claudication / opisthotonos
- Gynecomastia / breast / mammary gland enlargement / hyperplasia
- Sensitive trouble / deficit
- Tremor