ODCs

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1 OMIM reference -
2 associated genes
21 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Neurofibromatosis type 2

1 OMIM reference -
1 associated gene
25 signs/symptoms

Desmoid tumor

Neurofibromatosis type 2

APC	(UniProt - OMIM)		NF2	(UniProt - OMIM)
CTNNB1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CTNNB1	(0.59)	NF2

Citations in the biomedical literature:

Desmoid tumor		Neurofibromatosis type 2
	Synonym(s): - Aggressive fibromatosis - Desmoid type fibromatosis		Synonym(s): - Familial acoustic neurinoma - Familial acoustic neuroma - Familial vestibular schwannoma - NF2

	Classification (Orphanet): - Rare oncologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease - Rare oncologic disease - Rare otorhinolaryngologic 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: variable Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 2 MeSH references: D009464 / D016518


COMMON SIGNS	- Skin tumors / lumps / epidermal cysts - Subcutaneous nodules / lipomas / tumefaction / swelling

Desmoid tumor		Neurofibromatosis type 2
	Very frequent - Anomalies of the abdominal wall - Fibromatosis / bone fibroma - Muscle anomalies - Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma 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 - Thoracic / chest pain		Very frequent - Ataxia / incoordination / trouble of the equilibrium - Autosomal dominant inheritance - Dizziness - Sensorineural deafness / hearing loss - Tinnitus Frequent - Cataract / lens opacification - Facial pain / cephalalgia / migraine Occasional - Abnormal gait - Alexia / agraphia / writing / reading troubles - Benign tumor of the brain / nervous system - Cafe-au-lait spot - Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer - Corneal clouding / opacity / vascularisation - Cranial hypertension - Cranial nerves palsy - Cutaneous neurofibromas / facial angiofibromas / Koenen tumors - Facial palsy - Follicular / erythematous / edematous papules / milium - Glial tumor / glioblastoma - Meningioma - Mild visual loss / impaired visual acuity - Retinal vascular anomalies / retinal telangiectasia - Sensitive trouble / deficit