ODCs

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3 OMIM references -
4 associated genes
16 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
12 signs/symptoms

46,XX gonadal dysgenesis

Brachydactyly - elbow wrist dysplasia


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	NR5A1	(0.85)	PITX1

Citations in the biomedical literature:

46,XX gonadal dysgenesis		Brachydactyly - elbow wrist dysplasia
	Synonym(s): - 46,XX complete gonadal dysgenesis - 46,XX ovarian dysgenesis - 46,XX pure gonadal dysgenesis - FSH-RO - Follicular stimulating hormone-resistant ovaries - Hypergonadotropic ovarian dysgenesis - XX female gonadal dysgenesis - XX-GD		Synonym(s): - Brachydactyly - joint dysplasia - Liebenberg 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 bone disease - Rare developmental defect during embryogenesis - Rare genetic disease

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

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: adolescence / young Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

	External references: 3 OMIM references - 1 MeSH reference: D023961		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance

46,XX gonadal dysgenesis		Brachydactyly - elbow wrist dysplasia
	Very frequent - Abnormal / polycystic ovaries - Late puberty / hypogonadism / hypogenitalism - Primary amenorrhea - Sterility / hypofertility Frequent - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets Occasional - Ataxia / incoordination / trouble of the equilibrium - Autosomal recessive inheritance - Hearing loss / hypoacusia / deafness - Long hand / arachnodactyly - Lung fibrosis - Metabolic anomalies - Microcephaly - Precocious menopause / secondary amenorrhea - Short stature / dwarfism / nanism - X-linked recessive inheritance		Very frequent - Carpal bones fusion / synostosis - Clinodactyly of fifth finger - Elbow dislocation - Humerus anomaly / absence / agenesis / hypoplasia / congenital humerus varus - Macrocephaly / macrocrania / megalocephaly / megacephaly - Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray - Restricted joint mobility / joint stiffness / ankylosis - Short hand / brachydactyly - Terminal / third phalangeal bone of fingers broadened / deviated - Thin / hypoplastic / hyperconvex fingernails - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray