ODCs

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Desmoid tumor

1 OMIM reference -
2 associated genes
21 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Hereditary hemorrhagic telangiectasia

5 OMIM references -
4 associated genes
34 signs/symptoms

Desmoid tumor

Hereditary hemorrhagic telangiectasia

APC	(UniProt - OMIM)	ACVRL1	(UniProt - OMIM)
CTNNB1	(UniProt - OMIM)	ENG	(UniProt - OMIM)
		GDF2	(UniProt - OMIM)
		SMAD4	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CTNNB1	(0.73)	SMAD4

Citations in the biomedical literature:

Desmoid tumor		Hereditary hemorrhagic telangiectasia
	Synonym(s): - Aggressive fibromatosis - Desmoid type fibromatosis		Synonym(s): - HHT - Rendu-Osler disease - Rendu-Osler-Weber disease

	Classification (Orphanet): - Rare oncologic disease		Classification (Orphanet): - Rare circulatory system disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare skin disease - Rare systemic or rheumatologic disease

	Classification (ICD10): - Neoplasms -		Classification (ICD10): - Diseases of the circulatory 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: 1-5 / 10 000 Average age onset: childhood Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 5 OMIM references - No MeSH references


COMMON SIGNS	- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia - Polyposis of the bowel / colon / intestine

Desmoid tumor		Hereditary hemorrhagic telangiectasia
	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 Occasional - Articular / joint pain / arthralgia - Bladder and ureter anomalies - Early death / lethality - 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 - Autosomal dominant inheritance - Epistaxis / nose bleeding - Telangiectasiae of mucosae - Telangiectasiae of the skin Frequent - Arteriovenous malformations / vascular malformations (excluding port-wine stains) - Cavernous / tuberous hemangioma - Facial pain / cephalalgia / migraine - Functional anomalies of the cardio-circulatory system - Functional anomalies of the liver and the biliary tract - Hematomas - Microcytic anemia - Portal hypertension - Visceral angiomatosis (excluding skin) Occasional - Biliary / gallbladder stones / lithiasis / cholecystitis - Cerebral vascular anomalies - Cirrhosis - Conjunctival telangiectasia - Esophageal varices - Heart / cardiac failure - Hematuria / microhematuria - Hemoptysis - Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding - Hepatocellular liver disease / hepatic failure - Peripheral arteriovenous fistula - Pulmonary hypertension - Pulmonary thromboembolism - Retinal vascular anomalies / retinal telangiectasia - Seizures / epilepsy / absences / spasms / status epilepticus - Transient cerebral ischemia / stroke - Urinary / renal lithiasis / kidney stones / nephritic colic - Venous thrombosis / phlebitis / thrombophlebitis - Visual loss / blindness / amblyopia