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46,XX gonadal dysgenesis

3 OMIM references -
4 associated genes
16 signs/symptoms

PROTEIN INTERACTIONS: 2
COMMON SIGNS: 1

Kennedy disease

1 OMIM reference -
1 associated gene
12 signs/symptoms

46,XX gonadal dysgenesis

Kennedy disease

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


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PSMC3IP NR5A1	(0.67) (0.52)	AR AR

Citations in the biomedical literature:

46,XX gonadal dysgenesis		Kennedy disease
	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): - Bulbospinal muscular atrophy - SBMA - Spinal and bulbar muscular atrophy - Spinobulbar muscular atrophy - X-linked bulbospinal amyotrophy

	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 genetic disease - Rare infertility - Rare neurologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the nervous system -

	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: 1-9 / 100 000 Average age onset: adulthood Average age of death: normal Type of inheritance: x-linked recessive

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


COMMON SIGNS	- X-linked recessive inheritance

46,XX gonadal dysgenesis		Kennedy disease
	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		Very frequent - Abnormal gait - Areflexia / hyporeflexia - Gynecomastia / breast / mammary gland enlargement / hyperplasia - Hypotonia - Impotence / painful erection / priapism / erection troubles - Movement disorder - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Occasional - Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia - Insulin-independent / type 2 diabetes - Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia