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MCID: OLL001
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Ollier Disease malady |
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12 drugs, 18 genes, 3 tissues, 238 related diseases, 14 phenotypes, 6 articles, clinical trials, genetic tests.
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Sources: 6Disease Ontology, 30NIH Rare Diseases, 17Genetics Home Reference, 44Wikipedia, 22MalaCards See all sources Export this MalaCard |
NIH Rare Diseases: Maffucci syndrome is a disorder that primarily affects the bones and skin. It is characterized by multiple enchondromas (benign enlargements of cartilage), bone deformities, and hemangiomas (tangles of abnormal of blood vessels). The abnormal growths associated with Maffucci syndrome may become cancerous (malignant). In particular, affected individuals may develop bone cancers called chondrosarcomas, especially in the skull. They also have an increased risk of other cancers, such as ovarian or liver cancer. The underlying cause of Maffucci syndrome is unknown. No specific genes related to this disorder have been identified. Researchers suggest that the condition may be associated with abnormalities occurring before birth in the development of two embryonic cell layers called the ectoderm and the mesoderm.30
MalaCards: Ollier Disease, also known as maffucci syndrome, is related to hereditary multiple exostoses and spindle cell hemangioma. An important gene associated with Ollier Disease is PTH1R (parathyroid hormone 1 receptor), and among its related pathways are Class B/2 (Secretin family receptors) and Development_Hedgehog and PTH signaling pathways in bone and cartilage development. The drugs interferon alfa-2a,recombinant and interferon alfa-2a and the compounds Isocitric Acid and h2o2 have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, liver and skin, and related mouse phenotypes are respiratory system and endocrine/exocrine gland. Disease Ontology: 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.6 Genetics Home Reference: Maffucci syndrome is a disorder that primarily affects the bones and skin. It is characterized by multiple enchondromas, which are noncancerous (benign) growths of cartilage that develop on the bones. These growths most commonly occur in the limb bones, especially in the hands and feet; however, they may also occur in the skull, ribs, and vertebrae. Enchondromas may result in severe bone deformities, shortening of the limbs, and fractures. They develop near the ends of bones, where growth occurs, and enchondromas stop forming after affected individuals stop growing. As a result of the bone deformities associated with Maffucci syndrome, people with this disorder generally have short stature and underdeveloped muscles.17 Wikipedia: Ollier disease is a rare nonhereditary sporadic disorder where intraosseous benign cartilaginous tumors...44 more... |
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Sources: 6Disease Ontology, 30NIH Rare Diseases, 16GeneTests, 17Genetics Home Reference, 8DISEASES, 32Novoseek , 43UMLS, 40SNOMED-CT, 27NCIt, 24MeSH, 33OMIM See all sources |
Aliases & Descriptions:
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Sources: 4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT See all sources |
Approved drugs:Search CenterWatch for ollier disease Drug clinical trials:Search ClinicalTrials for ollier disease Search NIH Clinical Center for ollier disease Search CenterWatch for ollier disease Inferred drug relations via UMLS/NDF-RT:43 28 interferon, interferon alfa 2-b, interferon alfa-2a, interferon alfa-2a,recombinant, interferon alfa-2b,recombinant, interferon alfa-3n,human leukocyte derived, interferon alfacon-1, interferon beta-1a,recombinant, interferon beta-1b,recombinant, interferon gamma-1b, peginterferon alfa-2a, peginterferon alfa-2b |
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Sources: 16GeneTests See all sources |
Genetic tests related to ollier disease:
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Sources: 22MalaCards See all sources |
MalaCards organs/tissues related to ollier disease:22Skeletal muscle, Liver, Skin
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Sources: 25MGI See all sources |
MGI Mouse Phenotypes related to ollier disease:25 (show all 14)
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Sources: 35PubMed See all sources |
Articles related to ollier disease:
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Sources: 1BioGPS See all sources |
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Sources: 38Reactome, 41Thomson Reuters, 10EMD Millipore See all sources |
Pathways related to ollier disease according to GeneDecks:
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Sources: 9DrugBank, 18HMDB, 32Novoseek , 42Tocris Bioscience, 34PharmGKB See all sources |
Compounds related to ollier disease according to GeneDecks:(show all 46)
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Sources: 12Gene Ontology See all sources |
Biological processes related to ollier disease according to GeneDecks:(show all 8)
Molecular functions related to ollier disease according to GeneDecks:(show all 7)
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