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Enchondromatosis
1 OMIM reference -
3 associated genes
21 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3
Desmoid tumor
1 OMIM reference -
2 associated genes
21 signs/symptoms
Enchondromatosis
Desmoid tumor

IDH1
(UniProt - OMIM)
 APC
(UniProt - OMIM)
IDH2
(UniProt - OMIM)
 CTNNB1
(UniProt - OMIM)
PTH1R
(UniProt - OMIM)

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


Citations in the biomedical literature:


Enchondromatosis
IDH1 IDH2 PTH1R
Desmoid tumor
APC CTNNB1



Enchondromatosis
Desmoid tumor

Synonym(s):
- Ollier disease
Synonym(s):
- Aggressive fibromatosis
- Desmoid type fibromatosis
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare oncologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Neoplasms -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: childhood
Average age of death: -
Type of inheritance: sporadic
Epidemiological data:
Class of prevalence: unknown
Average age onset: adolescence / young
Average age of death: normal
Type of inheritance: sporadic
External references:
1 OMIM reference -
1 MeSH reference: D004687
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Osteolysis / osteoclasia / bone destruction / erosions
- Restricted joint mobility / joint stiffness / ankylosis
- Subcutaneous nodules / lipomas / tumefaction / swelling

Enchondromatosis
Desmoid tumor

Very frequent
- Anomalies of cartilages, joints and periarticular tissue
- Bone tumefaction / swelling
- Cavernous / tuberous hemangioma
- Metaphyseal anomaly
- Short limbs / micromelia / brachymelia
- Visceral angiomatosis (excluding skin)

Frequent
- Bone pain

Occasional
- Anaemia
- Bone / osseous neoplasm / tumor / carcinoma / cancer
- Chronic skin infection / ulcerations / ulcers / cancrum
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Lymphangioma / lymphatic malformations
- Neoplasms / tumors
- Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Platyspondyly
- Precocious puberty
- Sarcoma
- Venous thrombosis / phlebitis / thrombophlebitis


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
- Retinitis pigmentosa / retinal pigmentary changes
- Sepsis severe / septicemia
- Skin tumors / lumps / epidermal cysts
- Thoracic / chest pain