MCID: OLL001
MIFTS: 50

Ollier Disease malady

Categories: Rare diseases, Bone diseases, Fetal diseases, Cancer diseases

Aliases & Classifications for Ollier Disease

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Sources:
22GeneTests, 65UMLS, 10Disease Ontology, 45NIH Rare Diseases, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 36MeSH, 24GTR, 47Novoseek, 27ICD10, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen
See all MalaCards sources

Aliases & Descriptions for Ollier Disease:

Name: Ollier Disease 10 45 23 12 51 67
Enchondromatosis 45 23 51 36 24 65
Osteochondromatosis 10 22 67 65
Dyschondroplasia 10 45 23 51
Multiple Cartilaginous Enchondroses 45 23
Multiple Enchondromatosis 45 23
Maffucci Syndrome 22 65
Enchondromatosis, Multiple, Ollier Type 23
Enchondromatosis with Haemangiomata 10
 
Hereditary Multiple Exostoses 65
Enchondromatosis, Multiple 10
Enchondromatosis Multiple 67
Ollier's Syndrome 23
Maffucci Disease 67
Olliers Disease 47
Kast's Syndrome 10
Enchom 67

Characteristics:

Orphanet epidemiological data:

51
enchondromatosis:
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood

Classifications:



External Ids:

Disease Ontology10 DOID:4624
ICD1027 Q78.4
NCIt42 C3213
Orphanet51 296
ICD10 via Orphanet28 Q78.4
MESH via Orphanet37 D004687
UMLS via Orphanet66 C0014084
UMLS65 C0024454, C0014084, C0206641

Summaries for Ollier Disease

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NIH Rare Diseases:45 Ollier disease is a skeletal disorder characterized by an asymmetric distribution of cartilagenous tumors (endochondromas) 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 (metaphyses). clinical manifestations often appear in the first decade of life. the cause is unknown. there is no medical treatment, although surgery may be indicated in cases where complications (pathological fractures, growth defect, malignant transformation) arise. last updated: 5/19/2011

MalaCards based summary: Ollier Disease, also known as enchondromatosis, is related to enchondromatosis dwarfism deafness and maffucci syndrome, and has symptoms including visceral angiomatosis, micromelia and osteolysis. An important gene associated with Ollier Disease is IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2, Mitochondrial), and among its related pathways are A-beta Pathways: Plaque Formation and APP Metabolism and Development_Hedgehog and PTH signaling pathways in bone and cartilage development. Affiliated tissues include bone, skin and ovary, and related mouse phenotypes are tumorigenesis and limbs/digits/tail.

Disease Ontology:10 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:23 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.

UniProtKB/Swiss-Prot:67 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:68 Ollier disease is a rare nonhereditary sporadic disorder where intraosseous benign cartilaginous tumors... more...

Related Diseases for Ollier Disease

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Diseases related to Ollier Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 108)
idRelated DiseaseScoreTop Affiliating Genes
1enchondromatosis dwarfism deafness34.2IDH1, IDH2
2maffucci syndrome12.6
3carpotarsal osteochondromatosis12.4
4hereditary multiple osteochondromatosis, type i12.3
5hereditary multiple osteochondromatosis, type ii12.3
6synovial chondromatosis11.8
7upington disease11.7
8hereditary multiple exostoses11.6
9hereditary multiple osteochondromas11.4
10paranasal sinus lymphoma10.5IDH1, IDH2
11brain oligodendroglioma10.5IDH1, IDH2
12mixed astrocytoma-ependymoma10.5IDH1, IDH2
13congenital disorder of glycosylation, type if10.5IDH1, IDH2
14juxtacortical osteosarcoma10.5IDH1, IDH2
15diencephalic astrocytomas10.5IDH1, IDH2
16anaplastic plasmacytoma10.5IDH1, IDH2
17breast myofibroblastoma10.5IDH1, IDH2
18bone marrow cancer10.4IDH1, IDH2
19grade iii astrocytoma10.4IDH1, IDH2
20cerebral arteriosclerosis10.4CTSB, MMP2
21colon small cell carcinoma10.4IDH1, IDH2
22myositis ossificans10.4IDH1, IDH2
23odontoma10.4CD36, MMP2
24panuveitis10.3IDH1, IDH2
25metachondromatosis10.3
26childhood ovarian cancer10.3
27conjunctiva squamous cell carcinoma10.3IDH1, IDH2
28dysplastic cortical hyperostosis10.3EXT1, EXT2
29meibomian cyst10.3ACP5, PTPN11
30synovitis10.3ACP5, PTPN11
31breast cancer10.2
32endotheliitis10.2
33hereditary paraganglioma-pheochromocytoma syndromes10.2EXT1, EXT2
34vulvar nodular hidradenoma10.2EXT1, EXT2
35bone osteosarcoma10.2CTSB, IDH1, PTHLH
36collagenopathy, types ii and xi10.2CD36, PTH1R
37chondroma10.2EXT1, PTH1R, PTHLH
38small cell cancer of the lung, somatic10.2MMP2, PTH1R, PTHLH
39pheochromocytoma10.2
40hepatocellular carcinoma10.2
41burns10.2
42extra-adrenal pheochromocytoma10.2
43dermatomyositis10.2
44paronychia10.2
45dumping syndrome10.2
46melanoma10.2
47endometriosis10.2
48burning mouth syndrome10.2
49pancreatitis10.2
50basaloid squamous cell carcinoma10.2

Graphical network of the top 20 diseases related to Ollier Disease:



Diseases related to ollier disease

Symptoms for Ollier Disease

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Symptoms:

 51 (show all 21)
  • short limbs/micromelia/brachymelia
  • cavernous/tuberous hemangioma
  • visceral angiomatosis (excluding skin)
  • osteolysis/osteoclasia/bone destruction/erosions
  • bone tumefaction/swelling
  • metaphyseal anomaly
  • anomalies of cartilages, joints and periarticular tissue
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • bone pain
  • restricted joint mobility/joint stiffness/ankylosis
  • platyspondyly
  • chronic skin infection/ulcerations/ulcers/cancrum
  • venous thrombosis/phlebitis/thrombophlebitis
  • lymphangioma/lymphatic malformations
  • precocious puberty
  • anaemia
  • hemorrhage/hemorrhagic syndrome/excessive/long-lasting bleeding
  • neoplasms/tumors
  • ovary/fallopian tube neoplasm/tumor/carcinoma/cancer (excl. teratoma/germinoma)
  • sarcoma
  • bone/osseous neoplasm/tumor/carcinoma/cancer

HPO human phenotypes related to Ollier Disease:

(show all 17)
id Description Frequency HPO Source Accession
1 visceral angiomatosis hallmark (90%) HP:0100761
2 micromelia hallmark (90%) HP:0002983
3 osteolysis hallmark (90%) HP:0002797
4 cavernous hemangioma hallmark (90%) HP:0001048
5 abnormality of the metaphyses hallmark (90%) HP:0000944
6 bone pain typical (50%) HP:0002653
7 limitation of joint mobility typical (50%) HP:0001376
8 skin ulcer occasional (7.5%) HP:0200042
9 lymphangioma occasional (7.5%) HP:0100764
10 ovarian neoplasm occasional (7.5%) HP:0100615
11 thrombophlebitis occasional (7.5%) HP:0004418
12 abnormality of coagulation occasional (7.5%) HP:0001928
13 anemia occasional (7.5%) HP:0001903
14 platyspondyly occasional (7.5%) HP:0000926
15 precocious puberty occasional (7.5%) HP:0000826
16 chondrosarcoma HP:0006765
17 multiple enchondromatosis HP:0005701

Drugs & Therapeutics for Ollier Disease

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Interventional clinical trials:

idNameStatusNCT IDPhase
1The Health-Related Quality of Life in Patients With Hereditary Multiple ExostosesCompletedNCT00474448
2Investigating Genes in Patients With Polymyositis and DermatomyositisRecruitingNCT01171573
3Primary Prevention of Peristomial Hernias Via Parietal ProsthesesRecruitingNCT01380860
4Gene Mutations and Orthopaedic Symptoms Correlation of Multiple Hereditary Exostoses: Multicentre ProjectSuspendedNCT00474331
5Establishing the Genetic Profile of Multiple Hereditary Exostoses (HME) in Families of BCTerminatedNCT00473850

Search NIH Clinical Center for Ollier Disease


Cochrane evidence based reviews: enchondromatosis

Genetic Tests for Ollier Disease

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Anatomical Context for Ollier Disease

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MalaCards organs/tissues related to Ollier Disease:

33
Bone, Skin, Ovary, T cells, Brain, Liver, Thyroid

Animal Models for Ollier Disease or affiliated genes

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MGI Mouse Phenotypes related to Ollier Disease:

38 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020069.1CTSB, EXT1, IDH2, MMP2, PLAU, PTPN11
2MP:00053718.2EXT1, IDH2, IHH, PTH1R, PTHLH, PTPN11
3MP:00053887.9IDH1, IHH, MMP2, PLAU, PTH1R, PTHLH
4MP:00053917.7CD36, EXT1, IHH, MMP2, PLAU, PTHLH
5MP:00053827.5EXT1, IHH, MMP2, PLAU, PTH1R, PTHLH
6MP:00053817.3CD36, CTSB, EXT1, IHH, PLAU, PTH1R
7MP:00053857.2CD36, IDH2, IHH, MMP2, PLAU, PTHLH
8MP:00053847.1CD36, CTSB, EXT1, IHH, PLAU, PTHLH
9MP:00036316.8CD36, CTSB, EXT1, IHH, MMP2, PLAU
10MP:00053766.8ANKS1B, CD36, CTSB, IDH1, MMP2, PLAU
11MP:00107686.1CD36, CTSB, EXT1, EXT2, IDH1, IHH
12MP:00053785.8ANKS1B, CD36, CTSB, EXT1, IDH1, IHH
13MP:00053905.6ANKS1B, CD36, EXT1, EXT2, IDH1, IDH2

Publications for Ollier Disease

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Articles related to Ollier Disease:

(show all 50)
idTitleAuthorsYear
1
Treatment of Established Status Epilepticus. (27120626)
2016
2
Differential expression and regulatory roles of FABP5 and FABP7 in oligodendrocyte lineage cells. (24114376)
2013
3
Lack of association of common polymorphisms in MUC1 gene with H. pylori infection and non-cardia gastric cancer risk in a Chinese population. (24460302)
2013
4
Prevention of burns in developing countries. (23766751)
2012
5
Response to neoplastic pericardial effusion. (22278915)
2012
6
Extragonadal tumor and testicular microlithiasis. (21633007)
2011
7
Retreatment with pemetrexed-based chemotherapy in patients with malignant pleural mesothelioma. (21216487)
2011
8
Rac1 is required for oncolytic NDV replication in human cancer cells and establishes a link between tumorigenesis and sensitivity to oncolytic virus. (20101224)
2010
9
Refractive errors and strabismus in children with laurence-moon-biedl syndrome. (20128550)
2010
10
Knockdown of the Drosophila GTPase nucleostemin 1 impairs large ribosomal subunit biogenesis, cell growth, and midgut precursor cell maintenance. (19710426)
2009
11
Effects of a stable prostacyclin analogue beraprost sodium on VEGF and PAI-1 gene expression in vascular smooth muscle cells. (18471910)
2009
12
Epigenetic silencing of the p16(INK4a) tumor suppressor is associated with loss of CTCF binding and a chromatin boundary. (19450526)
2009
13
Hemiclamshell incision in the treatment of mediastinal goiter. (18478255)
2009
14
Age at onset of generalized anxiety disorder in older adults. (19472431)
2009
15
Three-dimensional computed tomography imaging of the eustachian tube lumen in patients with patulous eustachian tube. (20016242)
2009
16
Conservation of inter-protein binding sites in RUSH and RFBP, an ATP11B isoform. (18584949)
2008
17
Proteinuria in children with sickle cell disease. (18065783)
2008
18
Wandering chordoma--a mid-line crisis? (16947047)
2007
19
High resolution DNA typing for HLA-A, B, Cw genes by polymerase chain reaction-sequence specific oligonucleotide probes method in the Shenyang Han population]. (16331567)
2005
20
Hydroxamide derivatives of short-chain fatty acid have erythropoietic activity and induce gamma gene expression in vivo. (16338486)
2005
21
High throughput screening of meningioma biomarkers using a tissue microarray. (15980972)
2005
22
Synthesis of linear and cyclic phosphopeptides as ligands for the N-terminal SH2-domain of protein tyrosine phosphatase SHP-1. (15635669)
2005
23
Hemorrhagic disease in dogs infected with an unclassified intraendothelial piroplasm in southern Brazil. (16153781)
2005
24
Absence of the toll-like receptor 4 gene polymorphisms Asp299Gly and Thr399Ile in Singaporean Chinese. (18360565)
2005
25
The adaptor molecules LAT and SLP-76 are specifically targeted by Yersinia to inhibit T cell activation. (15699071)
2005
26
Clinical and laboratorial alterations in Plasmodium vivax malaria patients and glucose-6-phosphate dehydrogenase deficiency treated with primaquine at 0.50 mg/kg/day]. (15330059)
2004
27
Dynamic antagonism between RNA-binding protein CUGBP2 and cyclooxygenase-2-mediated prostaglandin E2 in radiation damage. (15358864)
2004
28
Wallerian degeneration in the optic nerve of the rabbit. (15297784)
2004
29
Cetirizine and allopurinol as novel weapons against cellular autoimmune disorders. (15037212)
2004
30
Humanized docking system for assembly of targeting drug delivery complexes. (12737851)
2003
31
Sequences associated with human iris pigmentation. (14704187)
2003
32
Sulfonylurea inadequacy: efficacy of addition of insulin over 6 years in patients with type 2 diabetes in the U.K. Prospective Diabetes Study (UKPDS 57). (11815505)
2002
33
Interactions of growth hormone secretagogues and growth hormone-releasing hormone/somatostatin. (11322498)
2001
34
Effects of triiodothyronine on the insulin-like growth factor system in primary human osteoblastic cells in vitro. (11728924)
2001
35
Further evidence that fibroblast growth factor receptor 2 mutations cause Antley-Bixler syndrome. (11430730)
2001
36
Kappa-opioid potentiation of tumor necrosis factor-alpha-induced anti-HIV-1 activity in acutely infected human brain cell cultures. (9744578)
1998
37
A sequential four-drug chemotherapy and biotherapy with interferon alpha and GM-CSF--an innovative protocol for the treatment of metastatic melanoma. (10850351)
1998
38
Valproic acid, but not its non-teratogenic analogue 2-isopropylpentanoic acid, affects proliferation, viability and neuronal differentiation of the human teratocarcinoma cell line NTera-2. (9621342)
1998
39
Circulating T cells of patients with active psoriasis respond to streptococcal M-peptides sharing sequences with human epidermal keratins. (9201310)
1997
40
Interferon beta in the cytokine network: an anti-inflammatory pathway. (9345389)
1995
41
Puzzling biochemical thyroid profile in patients with multinodular goitre originating from a mild iodine deficient area in Tunisia. (7536452)
1994
42
Tissue polypeptide antigen in bronchogenic carcinoma. (8272159)
1993
43
A stress-inducible 40 kDa protein (hsp40): purification by modified two-dimensional gel electrophoresis and co-localization with hsc70(p73) in heat-shocked HeLa cells. (8314866)
1993
44
Soluble interleukin 2 receptors in patients after bone marrow transplantation. (2207458)
1990
45
Radionuclide imaging in a case of tertiary syphilis involving the liver and bones. (3495647)
1987
46
Prolonged cortical somatosensory evoked potential latencies in progressive myoclonus epilepsy. (6431058)
1984
47
The 5q--syndrome: an underdiagnosed form of macrocytic anaemia. (6849830)
1983
48
Epidermal activity in annular dermatophytosis. (1267452)
1976
49
An examination of the biologic etiology of transvestism. (5857906)
1965
50

Variations for Ollier Disease

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Expression for genes affiliated with Ollier Disease

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Search GEO for disease gene expression data for Ollier Disease.

Pathways for genes affiliated with Ollier Disease

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Pathways related to Ollier Disease according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.8CTSB, MMP2
29.1IHH, PTH1R, PTHLH
38.8IHH, PLAU, PTH1R, PTHLH

GO Terms for genes affiliated with Ollier Disease

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Cellular components related to Ollier Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1brush border membraneGO:00315269.9CD36, PTH1R

Biological processes related to Ollier Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1tricarboxylic acid cycleGO:000609910.4IDH1, IDH2
2embryo implantationGO:000756610.0MMP2, PLAU
3glycosaminoglycan biosynthetic processGO:00060249.9EXT1, EXT2
4dephosphorylationGO:00163119.7ACP5, PTPN11
5face morphogenesisGO:00603259.5MMP2, PTPN11, TGFB3
6ossificationGO:00015039.1ACP5, EXT1, EXT2

Molecular functions related to Ollier Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activityGO:00505099.9EXT1, EXT2
2heparan sulfate N-acetylglucosaminyltransferase activityGO:00423289.8EXT1, EXT2
3acetylglucosaminyltransferase activityGO:00083759.7EXT1, EXT2
4glucuronosyltransferase activityGO:00150209.7EXT1, EXT2

Sources for Ollier Disease

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet