MCID: OLL001
MIFTS: 62

Ollier Disease malady

Cardiovascular, Bone, Skin, Fetal, Cancer categories

Summaries for Ollier Disease

Sources:
8Disease Ontology, 43NIH Rare Diseases, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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. last updated: 1/31/2011

MalaCards: Ollier Disease, also known as maffucci syndrome, is related to osteochondroma and hereditary multiple exostoses, and has symptoms including joint/articular deformation, scoliosis and failure to thrive/difficulties for feeding in infancy/growth delay. An important gene associated with Ollier Disease is PTH1R (parathyroid hormone 1 receptor), and among its related pathways are 2-Oxocarboxylic acid metabolism and Cell adhesion ECM remodeling. The compounds dexamethasone and Isocitric Acid have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and lung, and related mouse phenotypes are endocrine/exocrine gland and limbs/digits/tail.

Disease Ontology:8 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:21 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.

Wikipedia:64 Ollier disease is a rare nonhereditary sporadic disorder where intraosseous benign cartilaginous tumors... more...

Description from OMIM:47 166000,614569

Aliases & Classifications for Ollier Disease

Sources:
8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 49Orphanet, 20GeneTests, 61UMLS, 21Genetics Home Reference, 47OMIM, 22GTR, 45Novoseek, 40NCIt, 35MeSH, 57SNOMED-CT, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 36MESH via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal, Cancer
Anatomical: Cardiovascular, Bone, Skin


Characteristics (Orphanet epidemiological data):

49
maffucci syndrome:
Inheritance: Sporadic; Age of onset: Childhood
enchondromatosis:
Inheritance: Sporadic; Prevalence: 1-9/100000; Age of onset: Childhood


Aliases & Descriptions:

ollier disease 8 43 10 49
maffucci syndrome 8 43 21 49 47 61
enchondromatosis 43 22 49 47
osteochondromatosis 8 20 61
multiple angiomas and endochondromas 43 21
hemangiomatosis chondrodystrophica 43 21
dyschondroplasia 8 43
kast syndrome 43 21
enchondromatosis with multiple cavernous hemangiomas 43
dyschondroplasia and cavernous hemangioma 21
dyschondrodysplasia with hemangiomas 43
enchondromatosis with haemangiomata 8
multiple cartilaginous enchondroses 43
enchondromatosis with hemangiomata 21
hemangiomata with dyschondroplasia 21
chondrodysplasia with hemangioma 21
chondroplasia angiomatosis 21
enchondromatosis, multiple 8
multiple enchondromatosis 43
kast's syndrome 8
olliers disease 45


External Ids:

Disease Ontology8 DOID:4624
NCIt40 C3213
ICD10 via Orphanet26 Q78.4
SNOMED-CT via Orphanet58 46041001, 268274005
UMLS via Orphanet62 C0024454, C0014084
MESH via Orphanet36 D004687
ICD1025 Q78.4

Related Diseases for Ollier Disease

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 120)
idRelated DiseaseScoreTop Affiliating Genes
1osteochondroma30.9EXT1, PTHLH, EXT2
2hereditary multiple exostoses30.4EXT2, EXT1
3achondroplasia30.3PTH1R
4astrocytoma30.3IDH1, PLAU, MMP2, CTSB
5adenoma30.3GNAS, CTSB
6fibrous dysplasia30.1GNAS
7anaplastic astrocytoma30.0MMP2, PLAU, MMP12, CTSB
8enchondroma10.6
9carpotarsal osteochondromatosis10.5
10synovial chondromatosis10.3
11enchondromatosis dwarfism deafness10.1
12cheiro-spondylo-enchondromatosis10.1
13spindle cell sarcoma10.1
14synovitis10.1
15hereditary multiple osteochondromatosis, type i10.1
16hereditary multiple osteochondromatosis, type ii10.1
17spindle cell hemangioma10.1
18thalamic disease10.1
19gliomatosis cerebri10.1
20n syndrome10.1
21acute leukemia10.1
22vascular disease10.1
23ehlers–danlos syndrome10.1
24fibromuscular dysplasia10.1
25metachondromatosis10.1
26ovarian fibroma10.1
27congenital fibrosarcoma10.0
28hemangioendothelioma10.0
29soft tissue sarcoma10.0
30image syndrome10.0
31dysspondyloenchondromatosis10.0
32intracranial chondrosarcoma10.0
33thymic dysplasia10.0
34brain glioma10.0
35brain stem glioma10.0
36metaphyseal acroscyphodysplasia10.0
37upington disease10.0
38hypophosphatemia10.0PTHLH
39myeloid leukemia10.0PTPN11
40pancreatitis10.0CTSB
41hyperparathyroidism10.0PTHLH
42teratocarcinoma10.0PLAU
43pituitary adenoma10.0GNAS
44thyroid cancer10.0GNAS
45asthma10.0MMP12
46gigantism10.0GNAS
47bronchopulmonary dysplasia10.0PTHLH
48hypertrophic cardiomyopathy10.0PTPN11
49giant cell reparative granuloma10.0
50chondrodysplasia10.0

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



Diseases related to ollier disease

Clinical Features for Ollier Disease

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

166000,614569

Clinical synopsis from OMIM:

166000

Symptoms:

49 (show all 41)
  • joint/articular deformation
  • scoliosis
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • precocious puberty
  • vascular anomalies of skin/mucosae
  • restricted joint mobility/joint stiffness/ankylosis
  • short stature/dwarfism/nanism
  • cranial nerves palsy
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • exostoses
  • anaemia
  • chronic skin infection/ulcerations/ulcers/cancrum
  • metaphyseal anomaly
  • cavernous/tuberous hemangioma
  • platyspondyly
  • mutiple fractures/bone fragility
  • osteolysis/osteoclasia/bone destruction/erosions
  • venous thrombosis/phlebitis/thrombophlebitis
  • goiter
  • visceral angiomatosis (excluding skin)
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain
  • neoplasms/tumors
  • sarcoma
  • central nervous system/peripheral nerves neoplasm/tumor/carcinoma/cancer
  • short limbs/micromelia/brachymelia
  • hemorrhage/hemorrhagic syndrome/excessive/long-lasting bleeding
  • anomalies of cartilages, joints and periarticular tissue
  • lower limb asymmetry/hemiatrophy/hemihypertrophy
  • enchondroses
  • bone tumefaction/swelling
  • bone pain
  • acute palsy
  • breast neoplasm/tumor/carcinoma/cancer
  • ovary/fallopian tube neoplasm/tumor/carcinoma/cancer (excl. teratoma/germinoma)
  • pituitary/hypophyseal neoplasm/tumor/carcinoma/cancer
  • parathyroid neoplasm/tumor/carcinoma/cancer
  • adrenal neoplasm/tumor/carcinoma/cancer
  • bone/osseous neoplasm/tumor/carcinoma/cancer
  • lymphangioma/lymphatic malformations

Drugs & Therapeutics for Ollier Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Genetic Tests for Ollier Disease

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Ollier Disease:

id Genetic test Affiliating Genes
1 Osteochondromatosis20
2 Enchondromatosis22

Anatomical Context for Ollier Disease

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Ollier Disease:

33
Skin, Liver, Lung, Skeletal muscle, Breast

Animal Models for Ollier Disease or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Ollier Disease

Sources:
51PubMed
See all sources

Articles related to Ollier Disease:

(show top 50)    (show all 52)
idTitleAuthorsYear
1
Chondrosarcoma of the Skull Base in Ollier's Disease. (24384344)
2014
2
Clinical images: enchondromatosis (Ollier disease). (23918705)
2013
3
Ollier Disease With Digital Enchondromatosis: Anatomic and Functional Imaging. (24152634)
2013
4
PET-positive polyostotic fibrous dysplasia mimicking Ollier disease. (24292588)
2013
5
Treatment of combined spinal deformity in patient with ollier disease and abnormal vertebrae. (24436859)
2013
6
Ovarian cellular fibroma harbouring an isocitrate dehydrogenase 1 (1DH1) mutation in a patient with Ollier disease: evidence for a causal relationship. (23347143)
2013
7
Corticoplasty for improved appearance of hands with Ollier disease. (23040642)
2012
8
Multifocal supratentorial diffuse glioma in a young patient with Ollier disease. (22249016)
2012
9
Knee chondrosarcoma secondary to Ollier's disease: a report of one case with twelve-year follow-up. (22802984)
2012
10
Multifocal intracranial astrocytoma in a pediatric patient with Ollier disease. (22623818)
2012
11
Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome. (22057234)
2011
12
Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. (21533187)
2011
13
Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2. (22057236)
2011
14
Genome-wide analysis of Ollier disease: Is it all in the genes? (21235737)
2011
15
Incidence, predictive factors, and prognosis of chondrosarcoma in patients with Ollier disease and Maffucci syndrome: an international multicenter study of 161 patients. (22147000)
2011
16
Sonographic evaluation of enchondroma with soft tissue extension in the setting of Ollier disease. (21098859)
2010
17
A case of Ollier disease with non-small cell lung cancer and review of the literature. (19504096)
2010
18
Hand involvement in Ollier Disease and Maffucci Syndrome: a case series. (20975644)
2010
19
Pediatric thalamic glioblastoma associated with Ollier disease (multiple enchondromatosis): a rare case of concurrence. (19795968)
2009
20
Do intracranial neoplasms differ in Ollier disease and maffucci syndrome? An in-depth analysis of the literature. (19934970)
2009
21
Multiple enchondromatosis (Ollier disease). (19139610)
2009
22
Ollier disease. (19326125)
2009
23
First case of juvenile granulosa cell tumor in an adult with Ollier disease. (19696617)
2009
24
Acute myelogenous leukemia associated with Ollier disease. (16991136)
2008
25
PTHR1 mutations associated with Ollier disease result in receptor loss of function. (18559376)
2008
26
Progressive hemianopsia caused by intracranial enchondroma in Ollier disease. (19064887)
2008
27
Clinics in diagnostic imaging (124). Multiple enchondromatosis in Ollier disease. (18946621)
2008
28
Cerebellar anaplastic astrocytoma in a teenager with Ollier Disease. (18414790)
2008
29
Malformation of the humerus in a patient with Ollier disease treated with the Ilizarov technique. (18036843)
2008
30
Ollier disease. (16995932)
2006
31
Establishment and characterization of the permanent human cell line C3842 derived from a secondary chondrosarcoma in Ollier's disease. (15731924)
2005
32
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
33
Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150C. (15523647)
2004
34
Bilateral symmetrical Ollier disease and Tc-99m MDP bone scintigraphy. (15192478)
2004
35
Ollier disease with synchronous multicentric chondrosarcomas: scintigraphic and radiologic demonstration. (14688600)
2004
36
Both Trevor and Ollier disease limited to one upper extremity. (11904692)
2002
37
Deletion 1p in a low-grade chondrosarcoma in a patient with Ollier disease. (9723029)
1998
38
Extensive parasellar chondroma with Ollier's disease. (9522917)
1998
39
What syndrome is this? Ollier disease + vascular lesions: Maffucci syndrome. (7792223)
1995
40
Ehlers-Danlos syndrome associated with Ollier disease. (17586905)
1994
41
Ollier disease: an interdisciplinary approach. (8164989)
1994
42
Clival chondroma in a child with Ollier's disease. Case report. (1811715)
1991-1992
43
Intracranial chondrosarcoma in a patient with Ollier's disease. (1873666)
1991
44
Ollier's disease associated with ovarian Sertoli-Leydig cell tumor and breast adenoma. (2029079)
1991
45
Sellar chondroma in a case of Ollier's disease. (2922096)
1989
46
Intracranial chondroma in a patient with Ollier's disease. Case report. (2913225)
1989
47
Case report 418: Multiple enchondromatosis (Ollier disease) with severe vertebral changes. (3589742)
1987
48
Case report 405: Ollier disease (enchondromatosis). (3823964)
1987
49
Ollier disease (enchondromatosis) associated with ovarian juvenile granulosa cell tumor and precocious pseudopuberty. (3712163)
1986
50
Fibromuscular dysplasia of intracranial arteries in a patient with multiple enchondromas (Ollier disease). (563016)
1977

Genetic Variations for Ollier Disease

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Ollier Disease:

63
id Symbol AA change Variation SNP ID
1PTH1Rp.Arg150CysVAR_016063rs121434601

Expression for genes affiliated with Ollier Disease

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Ollier Disease

Search GEO for disease gene expression data for Ollier Disease.

Pathways for genes affiliated with Ollier Disease

Sources:
30KEGG, 12EMD Millipore, 54Reactome, 38NCBI BioSystems Database
See all sources

Pathways related to Ollier Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.0IDH2, IDH1
2
Cell adhesion ECM remodeling
Hide members
9.5PLAU, MMP12, MMP2
3
Hide members
9.5CTSB, MMP2, MMP12
49.5IHH, PLAU, PTH1R, PTHLH
5
Development Hedgehog and PTH signaling pathways in bone and cartilage development
Hide members
9.4PTHLH, PTH1R, IHH, GNAS
69.4IDH1, EXT2, EXT1
7
Hide members
8.3EXT2, IDH1, IDH2, GNAS, CD36, EXT1

Compounds for genes affiliated with Ollier Disease

Sources:
45Novoseek, 50PharmGKB, 29IUPHAR, 11DrugBank, 24HMDB, 60Tocris Bioscience, 2BitterDB
See all sources

Compounds related to Ollier Disease according to GeneCards/GeneDecks:

(show all 48)
idCompoundScoreTop Affiliating Genes
1dexamethasone45 50 29 1113.4PTH1R, MMP12
2Isocitric Acid11 2411.3IDH1, IDH2
3glutamate4510.2GNAS, IDH1
4calcium carbonate4510.2CD36
5teriparatide45 1111.1PTH1R, CD36
622-oxacalcitriol4510.1CD36, PTHLH
7pge24510.0MMP2, PLAU, PTH1R
8halofuginone4510.0MMP2, CD36
9leupeptin4510.0PTHLH, PLAU, CTSB
10marimastat45 60 1111.9PLAU, MMP12, MMP2
11matrigel459.9PTHLH, PTH1R, PLAU, CTSB
12tartrate459.8PTHLH, CD36
131,25 dihydroxy vitamin d3459.8CTSB, PTH1R, PTHLH
14octreotide45 60 29 1112.8PTHLH, MMP2, GNAS
15zoledronic acid459.8CD36, MMP2, PTHLH
16alendronate45 50 1111.8CD36, MMP2, PTHLH
17ag 1478459.7MMP2, PLAU, PTPN11, PTHLH
18azathioprine45 50 2 1112.6PTHLH, PLAU, MMP2
19aprotinin45 1110.6CTSB, MMP2, PLAU, PTHLH
20calcitriol45 60 11 2412.6CD36, PLAU, PTH1R, PTHLH
21gf 109203x45 6010.5CTSB, PLAU, PTHLH
22batimastat45 60 1111.5CD36, MMP2, MMP12, PLAU
23hydroxyproline45 11 2411.5CTSB, CD36, MMP2, PTHLH
24pamidronate45 50 1111.5PTHLH, CD36
25heparin45 29 11 2412.5CD36, CTSB, EXT1
26hydrocortisone45 2 60 1112.5CD36, MMP2, PLAU, PTHLH
27fibrinogen459.5CTSB, MMP12, PLAU, PTPN11
28tgf beta1459.5CD36, MMP2, PLAU, PTHLH
29heparan sulfate45 2410.4EXT1, EXT2, PLAU, PTHLH
30herbimycin a45 6010.4CD36, MMP2, PLAU, PTPN11
31ribonucleic acid459.4GNAS, MMP2, PLAU, PTH1R, PTHLH
32rosiglitazone45 50 29 11 2413.4PTHLH, MMP2, CD36
33sb 20358045 6010.3CD36, MMP2, PLAU, PTPN11
34thymidine45 2410.2GNAS, CTSB, PLAU, PTPN11, PTH1R, PTHLH
35glutamine459.2IDH1, GNAS, CTSB, CD36, PLAU
36nitric oxide45 11 2411.2GNAS, CTSB, MMP12, PTPN11, PTH1R, PTHLH
37paraffin459.1CTSB, CD36, MMP2, PLAU, PTHLH
38serine459.1GNAS, CTSB, MMP2, MMP12, PTPN11, PTH1R
39ly294002459.1CTSB, CD36, MMP2, PLAU, PTPN11
40creatinine459.1CTSB, CD36, MMP2, PLAU, PTHLH
41h2o2458.9CTSB, CD36, MMP2, PLAU, PTPN11
42retinoic acid45 249.8CTSB, CD36, MMP2, PLAU, PTH1R, PTHLH
43alanine458.8GNAS, CTSB, MMP2, PLAU, PTPN11, PTH1R
44vegf458.7CTSB, CD36, MMP2, MMP12, PLAU, PTPN11
45cysteine458.6GNAS, CTSB, CD36, MMP2, PLAU, PTPN11
46arginine458.5EXT1, EXT2, GNAS, CTSB, PLAU, PTPN11
47tyrosine458.4GNAS, CTSB, MMP2, MMP12, PLAU, PTPN11
48calcium45 50 11 2410.1IDH1, GNAS, CTSB, PPFIBP1, ANKS1B, CD36

GO Terms for genes affiliated with Ollier Disease

Sources:
16Gene Ontology
See all sources

Cellular components related to Ollier Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:0055768.4PTHLH, PLAU, MMP12, MMP2, IHH, CTSB

Biological processes related to Ollier Disease according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1glyoxylate cycleGO:00609710.3IDH2, IDH1
2isocitrate metabolic processGO:00610210.2IDH2, IDH1
32-oxoglutarate metabolic processGO:00610310.0IDH2, IDH1
4embryonic skeletal joint developmentGO:0724989.9IHH, EXT1
5cellular polysaccharide biosynthetic processGO:0336929.8EXT2, EXT1
6regulation of cell adhesion mediated by integrinGO:0336289.8PTPN11, PLAU
7heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic processGO:0150149.8EXT1, EXT2
8collagen catabolic processGO:0305749.6MMP12, MMP2, CTSB
9extracellular matrix disassemblyGO:0226179.5CTSB, MMP2, MMP12
10skeletal system developmentGO:0015019.5PTHLH, PTH1R, IHH, EXT1
11heparan sulfate proteoglycan biosynthetic processGO:0150129.3EXT2, EXT1
12proteolysisGO:0065089.1CTSB, IHH, MMP2, MMP12, PLAU

Molecular functions related to Ollier Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1isocitrate dehydrogenase (NADP+) activityGO:00445010.2IDH2, IDH1
2peptide hormone receptor bindingGO:0514289.7PTHLH, PTPN11
3heparan sulfate N-acetylglucosaminyltransferase activityGO:0423289.6EXT2, EXT1
4N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activityGO:0505099.6EXT2, EXT1
5acetylglucosaminyltransferase activityGO:0083759.6EXT2, EXT1
6glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activityGO:0505089.5EXT1, EXT2

Products for genes affiliated with Ollier Disease

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Ollier Disease

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet