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ENCHOM
MCID: ENC044
MIFTS: 54
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Enchondromatosis, Multiple, Ollier Type (ENCHOM)
Categories:
Bone diseases, Fetal diseases, Rare diseases
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MalaCards integrated aliases for Enchondromatosis, Multiple, Ollier Type:
Characteristics:Orphanet epidemiological data:59
enchondromatosis
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood; Classifications:
ICD10:
33
34
External Ids:
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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 hereditary multiple exostoses and hereditary multiple osteochondromas, 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 Metabolism and Endochondral Ossification. The drug Tretinoin has been mentioned in the context of this disorder. Affiliated tissues include bone, skin and lung, and related phenotypes are multiple enchondromatosis and chondrosarcoma 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. 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. 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. Wikipedia : 76 Ollier disease is a rare nonhereditary sporadic disorder where intraosseous benign cartilaginous tumors... more... |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:166000Human phenotypes related to Enchondromatosis, Multiple, Ollier Type:59 32 (show all 21)
UMLS symptoms related to Enchondromatosis, Multiple, Ollier Type:pain MGI Mouse Phenotypes related to Enchondromatosis, Multiple, Ollier Type:46
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Drugs for Enchondromatosis, Multiple, Ollier Type (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
Cochrane evidence based reviews: enchondromatosis |
Genetic tests related to Enchondromatosis, Multiple, Ollier Type:
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MalaCards organs/tissues related to Enchondromatosis, Multiple, Ollier Type:41
Bone,
Skin,
Lung,
Brain,
Cerebellum,
Myeloid
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Articles related to Enchondromatosis, Multiple, Ollier Type:(show top 50) (show all 59)
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Genes related to Enchondromatosis, Multiple, Ollier Type (3 elite genes):(show all 17) - Elite gene
- Cancer Census gene in COSMIC
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Copy number variations for Enchondromatosis, Multiple, Ollier Type from CNVD:7 (show all 16)
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Search
GEO
for disease gene expression data for Enchondromatosis, Multiple, Ollier Type.
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Biological processes related to Enchondromatosis, Multiple, Ollier Type according to GeneCards Suite gene sharing:(show all 14)
Molecular functions related to Enchondromatosis, Multiple, Ollier Type according to GeneCards Suite gene sharing:
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