ODCs

Cytoscape Web

Click node...

46,XX gonadal dysgenesis

3 OMIM references -
4 associated genes
16 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
2 associated genes
21 signs/symptoms

46,XX gonadal dysgenesis

Desmoid tumor

BMP15	(UniProt - OMIM)		APC	(UniProt - OMIM)
FSHR	(UniProt - OMIM)		CTNNB1	(UniProt - OMIM)
NR5A1	(UniProt - OMIM)
PSMC3IP	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	NR5A1	(0.89)	CTNNB1

Citations in the biomedical literature:

46,XX gonadal dysgenesis		Desmoid tumor
	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): - Aggressive fibromatosis - Desmoid type fibromatosis

	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 oncologic disease

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

	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: unknown Average age onset: adolescence / young Average age of death: normal Type of inheritance: sporadic

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

46,XX gonadal dysgenesis		Desmoid tumor
	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		Very frequent - Anomalies of the abdominal wall - Fibromatosis / bone fibroma - Muscle anomalies - Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma - Subcutaneous nodules / lipomas / tumefaction / swelling Frequent - Acute abdominal pain / colic - Myalgia / muscular pain - Polyposis of the bowel / colon / intestine Occasional - Articular / joint pain / arthralgia - Bladder and ureter anomalies - Early death / lethality - Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia - Intestinal obstruction / ileus - Malabsorption / chronic diarrhea / steatorrhea - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Osteolysis / osteoclasia / bone destruction / erosions - Restricted joint mobility / joint stiffness / ankylosis - Retinitis pigmentosa / retinal pigmentary changes - Sepsis severe / septicemia - Skin tumors / lumps / epidermal cysts - Thoracic / chest pain