ODCs

Cytoscape Web

Click node...

Kennedy disease

1 OMIM reference -
1 associated gene
12 signs/symptoms

PROTEIN INTERACTIONS: 1

46,XX ovotesticular disorder of sex development

1 OMIM reference -
2 associated genes
14 signs/symptoms

Kennedy disease

46,XX ovotesticular disorder of sex development

AR	(UniProt - OMIM)		SOX9	(UniProt - OMIM)
			SRY	(UniProt - OMIM)


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

Citations in the biomedical literature:

Kennedy disease		46,XX ovotesticular disorder of sex development
	Synonym(s): - Bulbospinal muscular atrophy - SBMA - Spinal and bulbar muscular atrophy - Spinobulbar muscular atrophy - X-linked bulbospinal amyotrophy		Synonym(s): - 46,XX ovotesticular DSD - True hermaphroditism

	Classification (Orphanet): - Rare genetic disease - Rare infertility - Rare neurologic 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): - Diseases of the nervous system -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

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

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D050090

Kennedy disease		46,XX ovotesticular disorder of sex development
	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 - X-linked recessive inheritance Occasional - Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia - Insulin-independent / type 2 diabetes - Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia		Very frequent - Abnormal / polycystic ovaries - Ambiguous genitalia - Bifid scrotum - Horizontal folds on scrotum - Hypoplastic scrotum / hemiscrotum / scrotal ridges - Hypospadias / epispadias / bent penis - Male internal genitalia anomaly / deferent ducts agenesis / ectopy / duplication - Micropenis / small penis / agenesis - Sterility / hypofertility - True hermaphrodism - Undescended / ectopic testes / cryptorchidia / unfixed testes - Urogenital sinus - Uterine / uterus / Fallopian tubes anomalies Occasional - Chromosomal or genetic anomaly