MCID: OLL001
MIFTS: 52

Ollier Disease malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Cancer diseases categories

Aliases & Classifications for Ollier Disease

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Sources:
10Disease Ontology, 45NIH Rare Diseases, 22GeneTests, 47Novoseek, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 36MeSH, 67UniProtKB/Swiss-Prot, 59SNOMED-CT, 42NCIt, 29ICD9CM, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet, 27ICD10, 34MedGen
See all sources

Aliases & Descriptions for Ollier Disease:

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


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology10 DOID:4624
NCIt42 C3213
ICD9CM29 756.4
Orphanet51 296
UMLS via Orphanet66 C0014084
ICD10 via Orphanet28 Q78.4
MESH via Orphanet37 D004687
ICD1027 Q78.4

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 osteochondromatosis, is related to enchondromatosis dwarfism deafness and chondrosarcoma, and has symptoms including abnormality of the metaphyses, cavernous hemangioma and osteolysis. An important gene associated with Ollier Disease is IDH2 (Isocitrate Dehydrogenase 2 (NADP+), Mitochondrial), and among its related pathways are A-beta Plaque Formation and APP Metabolism and G alpha (s) signalling events. Affiliated tissues include bone, skin and ovary, and related mouse phenotypes are adipose tissue and muscle.

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.

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 111)
idRelated DiseaseScoreTop Affiliating Genes
1enchondromatosis dwarfism deafness30.8IDH1, IDH2
2chondrosarcoma30.6EXT1, EXT2, PTHLH
3osteochondrosis10.6
4carpotarsal osteochondromatosis10.5
5maffucci syndrome10.5
6osteochondroma10.5
7enchondroma10.5
8synovial chondromatosis10.4
9adenoma10.3
10pituitary adenoma10.3
11hereditary multiple exostoses10.3
12alveolar periostitis10.3IDH1, IDH2
13malignant biphasic mesothelioma10.3IDH1, IDH2
14congenital disorder of glycosylation, type if10.3IDH1, IDH2
15mixed astrocytoma-ependymoma10.3IDH1, IDH2
16small cell osteogenic sarcoma10.3IDH1, IDH2
17breast leiomyoma10.3IDH1, IDH2
18suppression amblyopia10.3IDH1, IDH2
19cerebral arteriosclerosis10.3CTSB, MMP2
20adult brain stem glioma10.3IDH1, IDH2
21achondroplasia10.3
22hereditary multiple osteochondromatosis, type i10.3
23hereditary multiple osteochondromatosis, type ii10.3
24choledochal cyst10.2IDH1, IDH2
25spindle cell carcinoma10.2IDH1, IDH2
26metachondromatosis10.2
27astrocytoma10.2
28fibromatosis, gingival, 110.2CD36, MMP2
29odontoma10.2CD36, MMP2
30her2-receptor negative breast cancer10.2GNAS, IDH1, IDH2
31spondyloenchondrodysplasia10.2
32spindle cell sarcoma10.2
33sarcoma10.2
34synovitis10.2
352-hydroxyglutaric aciduria10.2MMP2, PLAU
36atrial fibrillation10.2IDH1, MMP2, PTPN11
37dysplastic cortical hyperostosis10.2EXT1, EXT2
38hereditary paraganglioma-pheochromocytoma syndromes10.1EXT1, EXT2
39pancreatic mucinous cystadenoma10.1ACP5, PTPN11
40epileptic encephalopathy, early infantile, 2610.1GNAS, PTH1R, PTHLH
41bronchus carcinoma in situ10.1GNAS, PTH1R, PTHLH
42small cell cancer of the lung, somatic10.1MMP2, PTH1R, PTHLH
43anterior compartment syndrome10.1EXT1, PTH1R, PTHLH
44pseudosarcomatous fibromatosis10.1GNAS, PTH1R, PTHLH
45filariasis10.1CTSB, MMP2, PLAU
46type c thymoma10.1EXT1, IDH1, PTHLH
47keratoacanthoma10.1CTSB, GNAS, PTHLH
48chronic ulcer of skin10.1CD36, MMP2
49benign peritoneal mesothelioma10.1IDH1, IDH2
50peripheral primitive neuroectodermal tumor10.1CTSB, GNAS, PTHLH

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

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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Genetic tests related to Ollier Disease:

id Genetic test Affiliating Genes
1 Osteochondromatosis22
2 Enchondromatosis24

Anatomical Context for Ollier Disease

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MalaCards organs/tissues related to Ollier Disease:

33
Bone, Skin, Ovary, Lung

Animal Models for Ollier Disease or affiliated genes

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MGI Mouse Phenotypes related to Ollier Disease:

38 (show all 16)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.3CD36, GNAS, PLAU, PTHLH, PTPN11
2MP:00053698.7CD36, GNAS, IHH, MMP2, PLAU, PTPN11
3MP:00053888.4GNAS, IHH, MMP2, PLAU, PTH1R, PTHLH
4MP:00053828.3EXT1, GNAS, IHH, MMP2, PLAU, PTH1R
5MP:00053718.3ACP5, EXT1, GNAS, IHH, PTH1R, PTHLH
6MP:00053918.2CD36, EXT1, IHH, MMP2, PLAU, PTHLH
7MP:00053818.1CD36, CTSB, EXT1, IHH, PLAU, PTH1R
8MP:00053798.1CD36, CTSB, GNAS, IHH, PLAU, PTHLH
9MP:00053847.5CD36, CTSB, EXT1, GNAS, IHH, PLAU
10MP:00053977.5ACP5, CD36, GNAS, IDH1, MMP2, PLAU
11MP:00053877.4ACP5, CD36, CTSB, GNAS, IDH1, MMP2
12MP:00036316.9CD36, CTSB, EXT1, GNAS, IHH, MMP2
13MP:00107686.9CD36, CTSB, EXT1, EXT2, GNAS, IHH
14MP:00053906.8ACP5, CD36, EXT1, EXT2, GNAS, IHH
15MP:00053786.5ANKS1B, CD36, CTSB, EXT1, GNAS, IHH
16MP:00053766.5ANKS1B, CD36, CTSB, GNAS, IDH1, MMP2

Publications for Ollier Disease

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Articles related to Ollier Disease:

(show all 49)
idTitleAuthorsYear
1
Ollier disease in a 6-year-old child. (25899516)
2015
2
Different appearance of Ollier disease: enchondromatosis of the ribs. (25902965)
2015
3
Nonoperative Management of Multiple Hand Enchondromas in Ollier Disease With Progressive Ossification. (26372762)
2015
4
Ollier Disease: Pathogenesis, Diagnosis, and Management. (26091223)
2015
5
Ollier Disease With Sole Chest Wall Involvement. (26140784)
2015
6
Enchondroma of the nasal septum due to Ollier disease: A case report and review of the literature. (24890303)
2014
7
Chondrosarcoma of the proximal humerus secondary to ollier disease: an 8-year follow-up of successful resection of the tumor with endoprosthetic replacement of the proximal humerus. (24734150)
2014
8
Clinical images: enchondromatosis (Ollier disease). (23918705)
2013
9
Ollier Disease With Digital Enchondromatosis: Anatomic and Functional Imaging. (24152634)
2013
10
PET-positive polyostotic fibrous dysplasia mimicking Ollier disease. (24292588)
2013
11
Treatment of combined spinal deformity in patient with ollier disease and abnormal vertebrae. (24436859)
2013
12
Ovarian cellular fibroma harbouring an isocitrate dehydrogenase 1 (1DH1) mutation in a patient with Ollier disease: evidence for a causal relationship. (23347143)
2013
13
Reconstruction of Ollier disease in a severely involved hand. (23187718)
2013
14
Corticoplasty for improved appearance of hands with Ollier disease. (23040642)
2012
15
Multifocal supratentorial diffuse glioma in a young patient with Ollier disease. (22249016)
2012
16
Multifocal intracranial astrocytoma in a pediatric patient with Ollier disease. (22623818)
2012
17
Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome. (22057234)
2011
18
Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. (21533187)
2011
19
Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2. (22057236)
2011
20
Genome-wide analysis of Ollier disease: Is it all in the genes? (21235737)
2011
21
Gliomatosis cerebri in a patient with Ollier disease. (21868231)
2011
22
Incidence, predictive factors, and prognosis of chondrosarcoma in patients with Ollier disease and Maffucci syndrome: an international multicenter study of 161 patients. (22147000)
2011
23
Sonographic evaluation of enchondroma with soft tissue extension in the setting of Ollier disease. (21098859)
2010
24
A case of Ollier disease with non-small cell lung cancer and review of the literature. (19504096)
2010
25
Hand involvement in Ollier Disease and Maffucci Syndrome: a case series. (20975644)
2010
26
Pediatric thalamic glioblastoma associated with Ollier disease (multiple enchondromatosis): a rare case of concurrence. (19795968)
2009
27
Do intracranial neoplasms differ in Ollier disease and maffucci syndrome? An in-depth analysis of the literature. (19934970)
2009
28
Multiple enchondromatosis (Ollier disease). (19139610)
2009
29
Ollier disease. (19326125)
2009
30
First case of juvenile granulosa cell tumor in an adult with Ollier disease. (19696617)
2009
31
Acute myelogenous leukemia associated with Ollier disease. (16991136)
2008
32
PTHR1 mutations associated with Ollier disease result in receptor loss of function. (18559376)
2008
33
Progressive hemianopsia caused by intracranial enchondroma in Ollier disease. (19064887)
2008
34
Clinics in diagnostic imaging (124). Multiple enchondromatosis in Ollier disease. (18946621)
2008
35
Cerebellar anaplastic astrocytoma in a teenager with Ollier Disease. (18414790)
2008
36
Malformation of the humerus in a patient with Ollier disease treated with the Ilizarov technique. (18036843)
2008
37
Ollier disease. (16995932)
2006
38
cDNA expression profiling of chondrosarcomas: Ollier disease resembles solitary tumours and alteration in genes coding for components of energy metabolism occurs with increasing grade. (16007578)
2005
39
Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150C. (15523647)
2004
40
Bilateral symmetrical Ollier disease and Tc-99m MDP bone scintigraphy. (15192478)
2004
41
Ollier disease with synchronous multicentric chondrosarcomas: scintigraphic and radiologic demonstration. (14688600)
2004
42
Both Trevor and Ollier disease limited to one upper extremity. (11904692)
2002
43
Deletion 1p in a low-grade chondrosarcoma in a patient with Ollier disease. (9723029)
1998
44
What syndrome is this? Ollier disease + vascular lesions: Maffucci syndrome. (7792223)
1995
45
Ehlers-Danlos syndrome associated with Ollier disease. (17586905)
1994
46
Ollier disease: an interdisciplinary approach. (8164989)
1994
47
Case report 418: Multiple enchondromatosis (Ollier disease) with severe vertebral changes. (3589742)
1987
48
Case report 405: Ollier disease (enchondromatosis). (3823964)
1987
49
Fibromuscular dysplasia of intracranial arteries in a patient with multiple enchondromas (Ollier disease). (563016)
1977

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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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
1extracellular spaceGO:00056158.4CD36, CTSB, IHH, MMP2, PLAU, PTHLH

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1glyoxylate cycleGO:000609710.7IDH1, IDH2
2isocitrate metabolic processGO:000610210.7IDH1, IDH2
3osteoblast developmentGO:000207610.6PTH1R, PTHLH
42-oxoglutarate metabolic processGO:000610310.5IDH1, IDH2
5regulation of cell adhesion mediated by integrinGO:003362810.5PLAU, PTPN11
6cellular polysaccharide biosynthetic processGO:003369210.3EXT1, EXT2
7embryonic skeletal joint developmentGO:007249810.2EXT1, IHH
8heparan sulfate proteoglycan biosynthetic processGO:001501210.2EXT1, EXT2
9adenylate cyclase-activating G-protein coupled receptor signaling pathwayGO:000718910.1GNAS, PTH1R, PTHLH
10heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic processGO:00150149.9EXT1, EXT2
11bone resorptionGO:00454539.5ACP5, IHH, PTH1R
12multicellular organism growthGO:00352649.5GNAS, IHH, PTPN11
13skeletal system developmentGO:00015018.7EXT1, GNAS, IHH, PTH1R, PTHLH
14ossificationGO:00015038.5EXT1, EXT2, IHH, PTH1R
15small molecule metabolic processGO:00442817.9ACP5, CD36, EXT1, EXT2, GNAS, IDH1

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1isocitrate dehydrogenase (NADP+) activityGO:000445010.4IDH1, IDH2
2peptide hormone receptor bindingGO:005142810.3PTHLH, PTPN11
3heparan sulfate N-acetylglucosaminyltransferase activityGO:004232810.1EXT1, EXT2
4glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activityGO:005050810.1EXT1, EXT2
5N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activityGO:005050910.1EXT1, EXT2
6D1 dopamine receptor bindingGO:00317489.9GNAS, PTPN11
7acetylglucosaminyltransferase activityGO:00083759.9EXT1, EXT2
8peptidase activityGO:00082339.0CTSB, IHH, PLAU

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