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46,XX gonadal dysgenesis

3 OMIM references -
4 associated genes
16 signs/symptoms

PROTEIN INTERACTIONS: 1

Familial clubfoot due to 5q31 microdeletion

1 associated gene
No signs/symptoms info

46,XX gonadal dysgenesis

Familial clubfoot due to 5q31 microdeletion

BMP15	(UniProt - OMIM)		PITX1	(UniProt - OMIM)
FSHR	(UniProt - OMIM)
NR5A1	(UniProt - OMIM)
PSMC3IP	(UniProt - OMIM)


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

Citations in the biomedical literature:

46,XX gonadal dysgenesis		Familial clubfoot due to 5q31 microdeletion
	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): - Hereditary clubfoot due to 5q31 microdeletion

	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: (no data available)

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

46,XX gonadal dysgenesis
	Very frequent - Abnormal / polycystic ovaries - Autosomal dominant inheritance - 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
Familial clubfoot due to 5q31 microdeletion
(no data available)