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ENCHOM
MCID: ENC044
MIFTS: 57
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Enchondromatosis, Multiple, Ollier Type (ENCHOM)
Categories:
Bone diseases, Cancer diseases, Fetal diseases, Rare diseases
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MalaCards integrated aliases for Enchondromatosis, Multiple, Ollier Type:
Characteristics:Orphanet epidemiological data:58
ollier disease
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood; HPO:31Classifications:
MalaCards categories:
Global: Rare diseases Fetal diseases Cancer diseases Anatomical: Bone diseases
ICD10:
32
33
Orphanet: 58
Rare bone diseases
Developmental anomalies during embryogenesis External Ids:
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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.
The signs and symptoms of Ollier disease may be detectable at birth, although they generally do not become apparent until around the age of 5. Enchondromas develop near the ends of bones, where normal growth occurs, and they frequently stop forming after affected individuals stop growing in early adulthood. As a result of the bone deformities associated with Ollier disease, people with this disorder generally have short stature and underdeveloped muscles.
Although the enchondromas associated with Ollier disease start out as benign, they may become cancerous (malignant). In particular, affected individuals may develop bone cancers called chondrosarcomas, especially in the skull. People with Ollier disease also have an increased risk of other cancers, such as ovarian or liver cancer.
People with Ollier disease usually have a normal lifespan, and intelligence is unaffected. The extent of their physical impairment depends on their individual skeletal deformities, but in most cases they have no major limitations in their activities.
A related disorder called Maffucci syndrome also involves multiple enchondromas but is distinguished by the presence of red or purplish growths in the skin consisting of tangles of abnormal blood vessels (hemangiomas).
MalaCards based summary : Enchondromatosis, Multiple, Ollier Type, also known as ollier disease, is related to hereditary multiple osteochondromas and synovial chondromatosis, 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 Presynaptic function of Kainate receptors and Parathyroid hormone synthesis, secretion and action. The drugs Tretinoin and Dermatologic Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and liver, and related phenotypes are abnormality of the metaphysis and micromelia 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. NIH Rare Diseases : 52 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. OMIM : 56 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 : 73 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 : 74 Ollier disease is a rare nonhereditary sporadic disorder where intraosseous benign cartilaginous tumors... more... |
Human phenotypes related to Enchondromatosis, Multiple, Ollier Type:58 31 (show all 21)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:166000UMLS symptoms related to Enchondromatosis, Multiple, Ollier Type:pain GenomeRNAi Phenotypes related to Enchondromatosis, Multiple, Ollier Type according to GeneCards Suite gene sharing:26
MGI Mouse Phenotypes related to Enchondromatosis, Multiple, Ollier Type:45
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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:40
Bone,
Skin,
Liver,
Lung,
Brain,
Breast,
Pituitary
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Articles related to Enchondromatosis, Multiple, Ollier Type:(show top 50) (show all 132)
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Genes related to Enchondromatosis, Multiple, Ollier Type (3 elite genes):(show all 30) - Elite gene
- Cancer Census gene in COSMIC
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Cosmic variations for Enchondromatosis, Multiple, Ollier Type:9 (show all 21)
Copy number variations for Enchondromatosis, Multiple, Ollier Type from CNVD:7 (show all 16)
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GEO
for disease gene expression data for Enchondromatosis, Multiple, Ollier Type.
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Pathways related to Enchondromatosis, Multiple, Ollier Type according to GeneCards Suite gene sharing:
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Biological processes related to Enchondromatosis, Multiple, Ollier Type according to GeneCards Suite gene sharing:(show all 24)
Molecular functions related to Enchondromatosis, Multiple, Ollier Type according to GeneCards Suite gene sharing:
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