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1 OMIM reference -
2 associated genes
21 signs/symptoms
PROTEIN INTERACTIONS: 1
29 OMIM references -
16 associated genes
No signs/symptoms info
Desmoid tumor
Autosomal recessive nonsyndromic intellectual deficit

APC CC2D1A
CTNNB1 CRADD
CRBN
GRIK2
KIAA1033
LINS
MAN1B1
MED13L
MED23
NSUN2
PRSS12
ST3GAL3
TECR
TRAPPC9
TUSC3
ZC3H14


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CTNNB1
(0.55)
GRIK2



Citations in the biomedical literature:


Desmoid tumor
APC CTNNB1
Autosomal recessive nonsyndromic intellectual deficit
CC2D1A CRADD CRBN GRIK2 KIAA1033 LINS
MAN1B1 MED13L MED23 NSUN2 PRSS12 ST3GAL3
TECR TRAPPC9 TUSC3 ZC3H14



Desmoid tumor
Autosomal recessive nonsyndromic intellectual deficit

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

Synonym(s):
- NS-ARID

Classification (Orphanet):
- Rare oncologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Neoplasms -
Classification (ICD10):
(no data available)

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: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive

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

Desmoid tumor

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


Autosomal recessive nonsyndromic intellectual deficit

(no data available)