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1 OMIM reference -
2 associated genes
21 signs/symptoms
PROTEIN INTERACTIONS: 1
9 OMIM references -
10 associated genes
No signs/symptoms info
Desmoid tumor
Early infantile epileptic encephalopathy

APC ARX
CTNNB1 CACNA2D2
GNAO1
KCNQ2
PLCB1
SCN2A
SCN8A
SLC25A22
SPTAN1
STXBP1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APC
(0.63)
GNAO1



Citations in the biomedical literature:


Desmoid tumor
APC CTNNB1
Early infantile epileptic encephalopathy
ARX CACNA2D2 GNAO1 KCNQ2 PLCB1 SCN2A
SCN8A SLC25A22 SPTAN1 STXBP1



Desmoid tumor
Early infantile epileptic encephalopathy

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

Synonym(s):
- EIEE
- Early infantile epileptic encephalopathy with suppression-bursts
- Ohtahara syndrome

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

Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Diseases of the nervous system -

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 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
9 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


Early infantile epileptic encephalopathy

(no data available)