MCID: OLL001
MIFTS: 52

Ollier Disease malady

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

Aliases & Classifications for Ollier Disease

About this section
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

About this section
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 carpotarsal osteochondromatosis, 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

About this section

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

(show top 50)    (show all 71)
idRelated DiseaseScoreTop Affiliating Genes
1enchondromatosis dwarfism deafness34.0IDH1, IDH2
2carpotarsal osteochondromatosis12.1
3hereditary multiple osteochondromatosis, type i11.9
4hereditary multiple osteochondromatosis, type ii11.9
5synovial chondromatosis11.6
6hereditary multiple exostoses11.4
7upington disease11.3
8hereditary multiple osteochondromas11.0
9paranasal sinus lymphoma10.7IDH1, IDH2
10brain oligodendroglioma10.7IDH1, IDH2
11mixed astrocytoma-ependymoma10.7IDH1, IDH2
12congenital disorder of glycosylation, type if10.7IDH1, IDH2
13juxtacortical osteosarcoma10.7IDH1, IDH2
14diencephalic astrocytomas10.7IDH1, IDH2
15anaplastic plasmacytoma10.7IDH1, IDH2
16breast myofibroblastoma10.7IDH1, IDH2
17bone marrow cancer10.7IDH1, IDH2
18grade iii astrocytoma10.7IDH1, IDH2
19cerebral arteriosclerosis10.6CTSB, MMP2
20colon small cell carcinoma10.6IDH1, IDH2
21myositis ossificans10.6IDH1, IDH2
22odontoma10.5CD36, MMP2
23panuveitis10.5IDH1, IDH2
24conjunctiva squamous cell carcinoma10.5IDH1, IDH2
25metachondromatosis10.5
26dysplastic cortical hyperostosis10.5EXT1, EXT2
27meibomian cyst10.4ACP5, PTPN11
28synovitis10.4ACP5, PTPN11
29hereditary paraganglioma-pheochromocytoma syndromes10.4EXT1, EXT2
30vulvar nodular hidradenoma10.4EXT1, EXT2
31bone osteosarcoma10.3CTSB, IDH1, PTHLH
32collagenopathy, types ii and xi10.3CD36, PTH1R
33chondroma10.3EXT1, PTH1R, PTHLH
34small cell cancer of the lung, somatic10.3MMP2, PTH1R, PTHLH
35mucocele of appendix10.3ACP5, PTH1R
36myxoid chondrosarcoma10.3EXT1, IDH1, PTHLH
37gliomatosis peritonei10.3IDH1, IDH2, MMP2
38localized osteosarcoma10.3CTSB, MMP2, PLAU
39eosinophilic pneumonia10.3EXT2, PTH1R, PTHLH
40osteochondroma10.3
41hernia of ovary and fallopian tube10.3ACP5, MMP2, PTH1R
42maffucci syndrome10.2
43chondrodysplasia, blomstrand type10.2IHH, PTH1R
44chondrosarcoma10.2
45enchondroma10.2
46osteodysplasia familial anderson type10.2EXT1, EXT2, PTHLH
47anxiety disorder10.1EXT1, EXT2
48marcus gunn phenomenon10.1ACP5, CD36, PTHLH
49radiculopathy10.1ACP5, CTSB
50subcortical arteriosclerotic encephalopathy10.1CD36, TDP1

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



Diseases related to ollier disease

Symptoms for Ollier Disease

About this section

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

UMLS symptoms related to Ollier Disease:


pain

Drugs & Therapeutics for Ollier Disease

About this section

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

About this section

Anatomical Context for Ollier Disease

About this section

MalaCards organs/tissues related to Ollier Disease:

33
Bone, Skin, Ovary, Lung, Breast, Brain, Endothelial

Animal Models for Ollier Disease or affiliated genes

About this section

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

About this section

Articles related to Ollier Disease:

(show top 50)    (show all 52)
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
Hemorrhagic chondrosarcoma in a patient with Ollier disease: Case report and literature review. (27141246)
2014
7
Enchondroma of the nasal septum due to Ollier disease: A case report and review of the literature. (24890303)
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
Acute myelogenous leukemia associated with Ollier disease. (16991136)
2008
31
PTHR1 mutations associated with Ollier disease result in receptor loss of function. (18559376)
2008
32
Progressive hemianopsia caused by intracranial enchondroma in Ollier disease. (19064887)
2008
33
Clinics in diagnostic imaging (124). Multiple enchondromatosis in Ollier disease. (18946621)
2008
34
Cerebellar anaplastic astrocytoma in a teenager with Ollier Disease. (18414790)
2008
35
Malformation of the humerus in a patient with Ollier disease treated with the Ilizarov technique. (18036843)
2008
36
Ollier disease. (16995932)
2006
37
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
38
Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150C. (15523647)
2004
39
Bilateral symmetrical Ollier disease and Tc-99m MDP bone scintigraphy. (15192478)
2004
40
Ollier disease with synchronous multicentric chondrosarcomas: scintigraphic and radiologic demonstration. (14688600)
2004
41
Both Trevor and Ollier disease limited to one upper extremity. (11904692)
2002
42
Deletion 1p in a low-grade chondrosarcoma in a patient with Ollier disease. (9723029)
1998
43
What syndrome is this? Ollier disease + vascular lesions: Maffucci syndrome. (7792223)
1995
44
Ehlers-Danlos syndrome associated with Ollier disease. (17586905)
1994
45
Ollier disease: an interdisciplinary approach. (8164989)
1994
46
Case report 418: Multiple enchondromatosis (Ollier disease) with severe vertebral changes. (3589742)
1987
47
Case report 405: Ollier disease (enchondromatosis). (3823964)
1987
48
Ollier disease (enchondromatosis) associated with ovarian juvenile granulosa cell tumor and precocious pseudopuberty. (3712163)
1986
49
Fibromuscular dysplasia of intracranial arteries in a patient with multiple enchondromas (Ollier disease). (563016)
1977
50

Variations for Ollier Disease

About this section

Expression for genes affiliated with Ollier Disease

About this section
Search GEO for disease gene expression data for Ollier Disease.

Pathways for genes affiliated with Ollier Disease

About this section

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

About this section

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

About this section
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