MCID: OLL001
MIFTS: 53

Ollier Disease malady

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

Summaries for Ollier Disease

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NIH Rare Diseases:41 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 hereditary multiple exostoses and osteochondroma, 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 Citric acid cycle (TCA cycle) and Glutathione metabolism. The compounds Oxalosuccinic acid and Isocitric acid have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and ovary, and related mouse phenotypes are homeostasis/metabolism and limbs/digits/tail.

Disease Ontology:9 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.

Wikipedia:63 Ollier disease is a rare nonhereditary sporadic disorder where intraosseous benign cartilaginous tumors... more...

Aliases & Classifications for Ollier Disease

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Sources:
9Disease Ontology, 41NIH Rare Diseases, 20GeneTests, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 33MeSH, 38NCIt, 55SNOMED-CT, 27ICD9CM, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

Ollier Disease, Aliases & Descriptions:

Name: Ollier Disease 9 41 11 47
Osteochondromatosis 9 20 60
Enchondromatosis 41 47 22
Dyschondroplasia 9 41 47
Enchondromatosis, Multiple, Ollier Type 60
Enchondromatosis with Haemangiomata 9
Multiple Cartilaginous Enchondroses 41
 
Hereditary Multiple Exostoses 60
Enchondromatosis, Multiple 9
Multiple Enchondromatosis 41
Maffucci Syndrome 60
Kast's Syndrome 9
Olliers Disease 43


Classifications:



Characteristics (Orphanet epidemiological data):

47
ollier disease:
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood


External Ids:

Disease Ontology9 DOID:4624
NCIt38 C3213
ICD9CM27 756.4
Orphanet47 296
MESH via Orphanet34 D004687
ICD10 via Orphanet26 Q78.4
UMLS via Orphanet61 C0014084
ICD1025 Q78.4

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 80)
idRelated DiseaseScoreTop Affiliating Genes
1hereditary multiple exostoses30.7EXT1, EXT2
2osteochondroma30.6PTHLH, EXT2, EXT1
3chondrosarcoma30.3EXT1, EXT2, PTHLH, PTH1R
4hereditary multiple osteochondromas30.2EXT1, EXT2
5exostosis30.1EXT1, EXT2
6glioblastoma30.0PTPN11, IDH1, IDH2
7osteochondrosis10.6
8carpotarsal osteochondromatosis10.5
9maffucci syndrome10.5
10mccune-albright syndrome, somatic, mosaic10.4GNAS
11enchondroma10.4
12cherubism10.4PTPN11
13interval angle-closure glaucoma10.4IDH2, IDH1
14d-2-hydroxyglutaric aciduria10.3IDH2, IDH1
15brachydactyly10.3GNAS
16intraductal papilloma10.3IDH2, IDH1
17synovial chondromatosis10.3
18metaphyseal dysplasia10.3PTH1R, PTHLH
19hypoparathyroidism10.3PTHLH, PTH1R
20primary hyperparathyroidism10.2PTHLH, PTH1R
21achondroplasia10.2
22enchondromatosis dwarfism deafness10.2
23hereditary multiple osteochondromatosis, type i10.2
24hereditary multiple osteochondromatosis, type ii10.2
25dwarfism10.2PTHLH, PTH1R
26parathyroid adenoma10.2PTHLH, GNAS
27hyperprolactinemia10.2PTHLH, GNAS
28astrocytoma10.2
29leydig cell tumor10.2PTHLH, GNAS
30genochondromatosis10.1
31dysspondyloenchondromatosis10.1
32synovitis10.1
33prolactinoma10.1PTHLH, GNAS
34pseudohypoparathyroidism, type ib10.1PTHLH, PTH1R, GNAS
35pseudohypoparathyroidism10.1GNAS, PTH1R, PTHLH
36skeletal dysplasia multi-gene panels10.1PTHLH, PTH1R, GNAS
37osteomalacia10.1GNAS, PTH1R, PTHLH
38hypercalcemia10.1PTH1R, PTHLH
39autosomal dominant disease10.1EXT1, EXT2
40chronic kidney failure10.1GNAS, PTH1R, PTHLH
41metachondromatosis10.0
42lung cancer10.0
43hemangioma10.0
44leukemia10.0
45spindle cell hemangioma10.0
46fibroma10.0
47gliomatosis cerebri10.0
48fibrous dysplasia10.0
49ehlers-danlos syndrome10.0
50fibromuscular dysplasia10.0

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:

 47 (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 21)
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 neoplasm of the skeletal system occasional (7.5%) HP:0010622
14 sarcoma occasional (7.5%) HP:0100242
15 ovarian neoplasm occasional (7.5%) HP:0100615
16 lymphangioma occasional (7.5%) HP:0100764
17 skin ulcer occasional (7.5%) HP:0200042
18 hemangioma HP:0001028
19 multiple enchondromatosis HP:0005701
20 chondrosarcoma HP:0006765
21 abnormality of long bone morphology HP:0011314

Drugs & Therapeutics for Ollier Disease

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Drug clinical trials:

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Search NIH Clinical Center for Ollier Disease

Genetic Tests for Ollier Disease

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Genetic tests related to Ollier Disease:

id Genetic test Affiliating Genes
1 Osteochondromatosis20
2 Enchondromatosis22

Anatomical Context for Ollier Disease

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MalaCards organs/tissues related to Ollier Disease:

31
Bone, Skin, Ovary, Lung

Animal Models for Ollier Disease or affiliated genes

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MGI Mouse Phenotypes related to Ollier Disease:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053768.3TDP1, PTPN11, PTHLH, PTH1R, GNAS, IDH1
2MP:00053718.2GNAS, PTH1R, PTHLH, PTPN11, EXT1
3MP:00053828.0GNAS, PTH1R, PTHLH, PTPN11, EXT1
4MP:00053907.8EXT1, EXT2, PTPN11, PTHLH, PTH1R, GNAS

Publications for Ollier Disease

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Articles related to Ollier Disease:

(show all 46)
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
Enchondroma of the nasal septum due to Ollier disease: A case report and review of the literature. (24890303)
2014
4
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
5
Clinical images: enchondromatosis (Ollier disease). (23918705)
2013
6
Ollier Disease With Digital Enchondromatosis: Anatomic and Functional Imaging. (24152634)
2013
7
PET-positive polyostotic fibrous dysplasia mimicking Ollier disease. (24292588)
2013
8
Treatment of combined spinal deformity in patient with ollier disease and abnormal vertebrae. (24436859)
2013
9
Ovarian cellular fibroma harbouring an isocitrate dehydrogenase 1 (1DH1) mutation in a patient with Ollier disease: evidence for a causal relationship. (23347143)
2013
10
Corticoplasty for improved appearance of hands with Ollier disease. (23040642)
2012
11
Multifocal supratentorial diffuse glioma in a young patient with Ollier disease. (22249016)
2012
12
Multifocal intracranial astrocytoma in a pediatric patient with Ollier disease. (22623818)
2012
13
Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome. (22057234)
2011
14
Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. (21533187)
2011
15
Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2. (22057236)
2011
16
Genome-wide analysis of Ollier disease: Is it all in the genes? (21235737)
2011
17
Gliomatosis cerebri in a patient with Ollier disease. (21868231)
2011
18
Incidence, predictive factors, and prognosis of chondrosarcoma in patients with Ollier disease and Maffucci syndrome: an international multicenter study of 161 patients. (22147000)
2011
19
Sonographic evaluation of enchondroma with soft tissue extension in the setting of Ollier disease. (21098859)
2010
20
A case of Ollier disease with non-small cell lung cancer and review of the literature. (19504096)
2010
21
Hand involvement in Ollier Disease and Maffucci Syndrome: a case series. (20975644)
2010
22
Pediatric thalamic glioblastoma associated with Ollier disease (multiple enchondromatosis): a rare case of concurrence. (19795968)
2009
23
Do intracranial neoplasms differ in Ollier disease and maffucci syndrome? An in-depth analysis of the literature. (19934970)
2009
24
Multiple enchondromatosis (Ollier disease). (19139610)
2009
25
Ollier disease. (19326125)
2009
26
First case of juvenile granulosa cell tumor in an adult with Ollier disease. (19696617)
2009
27
Acute myelogenous leukemia associated with Ollier disease. (16991136)
2008
28
PTHR1 mutations associated with Ollier disease result in receptor loss of function. (18559376)
2008
29
Progressive hemianopsia caused by intracranial enchondroma in Ollier disease. (19064887)
2008
30
Clinics in diagnostic imaging (124). Multiple enchondromatosis in Ollier disease. (18946621)
2008
31
Cerebellar anaplastic astrocytoma in a teenager with Ollier Disease. (18414790)
2008
32
Malformation of the humerus in a patient with Ollier disease treated with the Ilizarov technique. (18036843)
2008
33
Ollier disease. (16995932)
2006
34
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
35
Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150C. (15523647)
2004
36
Bilateral symmetrical Ollier disease and Tc-99m MDP bone scintigraphy. (15192478)
2004
37
Ollier disease with synchronous multicentric chondrosarcomas: scintigraphic and radiologic demonstration. (14688600)
2004
38
Both Trevor and Ollier disease limited to one upper extremity. (11904692)
2002
39
Deletion 1p in a low-grade chondrosarcoma in a patient with Ollier disease. (9723029)
1998
40
What syndrome is this? Ollier disease + vascular lesions: Maffucci syndrome. (7792223)
1995
41
Ehlers-Danlos syndrome associated with Ollier disease. (17586905)
1994
42
Ollier disease: an interdisciplinary approach. (8164989)
1994
43
Case report 418: Multiple enchondromatosis (Ollier disease) with severe vertebral changes. (3589742)
1987
44
Case report 405: Ollier disease (enchondromatosis). (3823964)
1987
45
Ollier disease (enchondromatosis) associated with ovarian juvenile granulosa cell tumor and precocious pseudopuberty. (3712163)
1986
46
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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Pathways related to Ollier Disease according to GeneCards Suite gene sharing:

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
TCA cycle36
pyruvate decarboxylation to acetyl CoA36
NAD phosphorylation and dephosphorylation36
TCA Cycle36
conversion of glucose to acetyl CoA and entry into the TCA cycle36
9.9IDH1, IDH2
2
Show member pathways
glutathione-mediated detoxification I36
glutathione redox reactions I36
glutathione redox reactions II36
4-hydroxy-2-nonenal detoxification36
Glutathione metabolism58
Glutathione metabolism36
9.9IDH1, IDH2
39.8PTHLH, PTH1R
49.7PTH1R, GNAS
59.4PTHLH, PTH1R, GNAS
69.4PTHLH, PTH1R, GNAS
7
Show member pathways
9.4GNAS, PTH1R, PTHLH
8
Show member pathways
9.3EXT1, EXT2
9
Show member pathways
heparan sulfate biosynthesis (late stages)36
9.3EXT1, EXT2
108.6IDH1, PTPN11, EXT2, EXT1
11
Show member pathways
8.3IDH2, IDH1, GNAS, EXT2, EXT1

Compounds for genes affiliated with Ollier Disease

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

(show all 21)
idCompoundScoreTop Affiliating Genes
1Oxalosuccinic acid2410.2IDH1, IDH2
2Isocitric acid24 1211.2IDH2, IDH1
3isocitrate4310.1IDH1, IDH2
4Oxoglutaric acid2410.0IDH2, IDH1
5guanosine 5-o-(3-thiotriphosphate)4310.0GNAS, PTH1R
6phosphorus439.9PTHLH, PTH1R
7ccl443 2810.9PTHLH, PTH1R
8ribonucleic acid439.7GNAS, PTH1R, PTHLH
9octreotide43 59 28 1212.6GNAS, PTHLH
10Uridine diphosphate-N-acetylglucosamine249.6EXT1, EXT2
11nadph43 2410.4PTPN11, IDH1, IDH2
12pge2439.4PTHLH, PTH1R, GNAS
13heparan sulfate43 2410.3EXT1, EXT2, PTHLH
14forskolin43 49 1211.3PTPN11, PTHLH, PTH1R, GNAS
15thymidine43 2410.3GNAS, PTH1R, PTHLH, PTPN11
16nitric oxide43 24 1211.2GNAS, PTH1R, PTHLH, PTPN11
17threonine439.2PTPN11, PTHLH, PTH1R, GNAS
18alanine439.1PTPN11, PTHLH, PTH1R, GNAS
19hydrogen43 2410.1PTPN11, PTHLH, PTH1R
20arginine438.5EXT1, EXT2, PTPN11, PTHLH, GNAS
21calcium43 49 24 1211.4PPFIBP1, IDH1, GNAS, PTH1R, PTHLH, PTPN11

GO Terms for genes affiliated with Ollier Disease

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1glyoxylate cycleGO:000609710.2IDH2, IDH1
2isocitrate metabolic processGO:000610210.1IDH2, IDH1
32-oxoglutarate metabolic processGO:000610310.1IDH1, IDH2
4osteoblast developmentGO:000207610.0PTH1R, PTHLH
5tricarboxylic acid cycleGO:00060999.9IDH1, IDH2
6endochondral ossificationGO:00019589.8GNAS, PTHLH
7adenylate cyclase-activating G-protein coupled receptor signaling pathwayGO:00071899.7PTHLH, PTH1R, GNAS
8cellular polysaccharide biosynthetic processGO:00336929.6EXT2, EXT1
9endoderm developmentGO:00074929.6EXT1, PTHLH
10positive regulation of cAMP biosynthetic processGO:00308199.6PTHLH, GNAS
11heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic processGO:00150149.6EXT1, EXT2
12heparan sulfate proteoglycan biosynthetic processGO:00150129.6EXT1, EXT2
13skeletal system developmentGO:00015019.4EXT1, PTHLH, PTH1R
14carbohydrate metabolic processGO:00059759.0EXT1, EXT2, IDH2
15glycosaminoglycan biosynthetic processGO:00060249.0EXT2, EXT1
16small molecule metabolic processGO:00442818.5EXT1, EXT2, GNAS, IDH1, IDH2

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1isocitrate dehydrogenase (NADP+) activityGO:000445010.1IDH1, IDH2
2NAD bindingGO:00512879.9IDH1, IDH2
3peptide hormone receptor bindingGO:00514289.7PTHLH, PTPN11
4heparan sulfate N-acetylglucosaminyltransferase activityGO:00423289.5EXT1, EXT2
5N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activityGO:00505099.5EXT1, EXT2
6glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activityGO:00505089.4EXT1, EXT2
7acetylglucosaminyltransferase activityGO:00083759.3EXT1, EXT2
8transferase activity, transferring glycosyl groupsGO:00167579.2EXT1, EXT2
9glucuronosyltransferase activityGO:00150209.0EXT1, EXT2

Products for genes affiliated with Ollier Disease

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Sources for Ollier Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet