Cytoscape Web
Click node...


1 OMIM reference -
2 associated genes
21 signs/symptoms
PROTEIN INTERACTIONS: 1
3 OMIM references -
4 associated genes
16 signs/symptoms
Desmoid tumor
46,XX gonadal dysgenesis

APC BMP15
CTNNB1 FSHR
NR5A1
PSMC3IP


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Desmoid tumor
APC CTNNB1
46,XX gonadal dysgenesis
BMP15 FSHR NR5A1 PSMC3IP



Desmoid tumor
46,XX gonadal dysgenesis

Synonym(s):
- Aggressive fibromatosis
- Desmoid type fibromatosis

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

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

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

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

Desmoid tumor
46,XX gonadal dysgenesis

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


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