ODCs

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Desmoid tumor

1 OMIM reference -
2 associated genes
21 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Metaphyseal chondrodysplasia, Jansen type

1 OMIM reference -
1 associated gene
20 signs/symptoms

Desmoid tumor

Metaphyseal chondrodysplasia, Jansen type

APC	(UniProt - OMIM)		PTH1R	(UniProt - OMIM)
CTNNB1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CTNNB1	(0.65)	PTH1R

Citations in the biomedical literature:

Desmoid tumor		Metaphyseal chondrodysplasia, Jansen type
	Synonym(s): - Aggressive fibromatosis - Desmoid type fibromatosis		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare oncologic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic 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 / 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: 1 OMIM reference - 1 MeSH reference: C537564


COMMON SIGNS	- Restricted joint mobility / joint stiffness / ankylosis

Desmoid tumor		Metaphyseal chondrodysplasia, Jansen type
	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 - Retinitis pigmentosa / retinal pigmentary changes - Sepsis severe / septicemia - Skin tumors / lumps / epidermal cysts - Thoracic / chest pain		Very frequent - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Frontal bossing / prominent forehead - Hypertelorism - Metaphyseal anomaly - Micrognathia / retrognathia / micrognathism / retrognathism - Prominent supraorbital ridge - Proptosis / exophthalmos - Short limbs / micromelia / brachymelia - Short stature / dwarfism / nanism Frequent - Clinodactyly of fifth finger - Enlarged diaphysis / diaphyses - Hypercalcemia - Hypoparathyroidy - Hypoplastic mandibula / partial absence of the mandibula - Narrow rib cage / thorax - Osteosclerosis / osteopetrosis / bone condensation - Phosphocalcic metabolism anomalies - Short hand / brachydactyly Occasional - Sensorineural deafness / hearing loss