Enchondromatosis, Multiple, Ollier Type

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OMIM 57 166000 Disease Ontology 12 DOID:4624 ICD10 33 Q78.4 MeSH 44 D004687 D018210 NCIt 50 C3213 SNOMED-CT 68 205470006 234135008 46041001 Orphanet 59 ORPHA296

MESH via Orphanet 45 D004687 UMLS via Orphanet 74 C0014084 C0013366 ICD10 via Orphanet 34 Q78.4 MedGen 42 C0014084 C0013366 C0206641 C3463923 more SNOMED-CT via HPO 69 123527003 400179000 2099007 253053003 400210000 84445001 95325000 165397008 271737000 362970003 64779008 12584003 203522001 30425001 74370006 111293003 268274005 14990007 443520009 253057002 254836000 400178008 69044001 46742003 more UMLS 73 C0024454 C0014084 C0206641 C0206636 more

NIH Rare Diseases : ⁵³ Ollier disease is a skeletal disorder characterized by multiple enchondromas, which are noncancerous (benign) growths of cartilage that develop within the bones. These growths may lead to skeletal deformities, limb discrepancy, and fractures. The enchondromas primarily occur in the limb bones, especially the bones of the hands and feet. They tend to develop near the ends of the bones, where growth occurs. Symptoms often appear in the first decade of life. The underlying cause of Ollier disease is not fully understood. In many people, the condition can be attributed to somatic mutations in the IDH1 or IDH2 gene. The disease is not typically inherited. Treatment is conservative in most cases, although surgery may be indicated in cases where complications (pathological fractures, growth defects, malignant transformation) arise.

MalaCards based summary : Enchondromatosis, Multiple, Ollier Type, also known as ollier disease, is related to exostoses, multiple, type i and hereditary multiple exostoses, and has symptoms including pain An important gene associated with Enchondromatosis, Multiple, Ollier Type is PTH1R (Parathyroid Hormone 1 Receptor), and among its related pathways/superpathways are Endochondral Ossification and Development_Hedgehog and PTH signaling pathways in bone and cartilage development. Affiliated tissues include bone, skin and lung, and related phenotypes are precocious puberty and joint stiffness

OMIM : ⁵⁷ Enchondromas are common benign cartilage tumors of bone. They can occur as solitary lesions or as multiple lesions in enchondromatosis. When hemangiomata are associated, the condition is known as Maffucci syndrome (614569). Clinical problems caused by enchondromas include skeletal deformity and the potential for malignant change to osteosarcoma (Schwartz et al., 1987). (166000)

UniProtKB/Swiss-Prot : ⁷⁵ Enchondromatosis multiple: A condition characterized by multiple formation of enchondromas, benign neoplasms derived from mesodermal cells that form cartilage. Enchondromas remain within the substance of a cartilage or bone. Clinical problems caused by enchondromas include skeletal deformity and the potential for malignant change to osteosarcoma.

Genetics Home Reference : ²⁵ Ollier disease is a disorder characterized by multiple enchondromas, which are noncancerous (benign) growths of cartilage that develop within the bones. These growths most commonly occur in the limb bones, especially in the bones of the hands and feet; however, they may also occur in the skull, ribs, and bones of the spine (vertebrae). Enchondromas may result in severe bone deformities, shortening of the limbs, and fractures.

Disease Ontology : ¹² A syndrome that is characterized by an asymmetric distribution of cartilagenous tumors, which may lead to skeletal deformities and limb-length discrepancy. This condition primarily affects the long bones and cartilage of the joints of the arms and legs, specifically the area where the shaft and head of a long bone meet.

Wikipedia : ⁷⁶ Ollier disease is a rare nonhereditary sporadic disorder where intraosseous benign cartilaginous tumors... more...

Clinical features from OMIM:

166000

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