MCID: OLL001
MIFTS: 70

Ollier Disease malady

Cardiovascular diseases, Bone diseases, Skin diseases, Fetal diseases, Cancer diseases categories

Summaries for Ollier Disease

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8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 chondrosarcoma and hereditary multiple exostoses, and has symptoms including restricted joint mobility/joint stiffness/ankylosis, bone pain and subcutaneous nodules/lipomas/tumefaction/swelling. 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 bone, skin and liver, 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:63 Ollier disease is a rare nonhereditary sporadic disorder where intraosseous benign cartilaginous tumors... more...

Description from OMIM:46 166000,614569

Aliases & Classifications for Ollier Disease

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8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 48Orphanet, 20GeneTests, 60UMLS, 21Genetics Home Reference, 46OMIM, 22GTR, 44Novoseek, 39NCIt, 34MeSH, 56SNOMED-CT, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 35MESH via Orphanet, 25ICD10
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Classifications:



Characteristics (Orphanet epidemiological data):

48
maffucci syndrome:
Inheritance: Sporadic; Age of onset: Childhood
enchondromatosis:
Inheritance: Sporadic; Prevalence: 1-9/100000; Age of onset: Childhood


Aliases & Descriptions:

ollier disease 8 42 10 48
maffucci syndrome 8 42 21 48 46 60
enchondromatosis 42 22 48 46
osteochondromatosis 8 20 60
multiple angiomas and endochondromas 42 21
hemangiomatosis chondrodystrophica 42 21
dyschondroplasia 8 42
kast syndrome 42 21
enchondromatosis with multiple cavernous hemangiomas 42
dyschondroplasia and cavernous hemangioma 21
dyschondrodysplasia with hemangiomas 42
enchondromatosis with haemangiomata 8
multiple cartilaginous enchondroses 42
enchondromatosis with hemangiomata 21
hemangiomata with dyschondroplasia 21
chondrodysplasia with hemangioma 21
chondroplasia angiomatosis 21
enchondromatosis, multiple 8
multiple enchondromatosis 42
kast's syndrome 8
olliers disease 44


External Ids:

Disease Ontology8 DOID:4624
NCIt39 C3213
ICD10 via Orphanet26 Q78.4
SNOMED-CT via Orphanet57 46041001, 268274005
UMLS via Orphanet61 C0024454, C0014084
MESH via Orphanet35 D004687
ICD1025 Q78.4

Related Diseases for Ollier Disease

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Ollier Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 121)
idRelated DiseaseScoreTop Affiliating Genes
1chondrosarcoma30.4EXT1, EXT2, CD36, IHH, PLAU, PTH1R
2hereditary multiple exostoses30.4EXT2, EXT1
3achondroplasia30.3PTH1R
4pituitary adenoma30.2GNAS
5adenoma30.2GNAS, CTSB
6astrocytoma30.2PLAU, MMP2, CTSB, IDH1
7hereditary multiple osteochondromas30.2EXT1, EXT2
8sarcoma30.1EXT2, EXT1
9meningioma30.0CTSB, MMP12
10fibrous dysplasia30.0GNAS
11fibrosarcoma30.0PLAU, MMP2, CD36, CTSB
12leukemia30.0IDH1, IDH2, ANKS1B, PTPN11
13lung cancer30.0CTSB, MMP2, MMP12, PLAU, PTHLH
14exostosis29.8EXT1, EXT2
15osteochondrosis10.5
16carpotarsal osteochondromatosis10.4
17synovial chondromatosis10.2
18ovarian disease10.2
19enchondromatosis dwarfism deafness10.1
20cheiro-spondylo-enchondromatosis10.1
21spindle cell sarcoma10.1
22synovitis10.1
23hereditary multiple osteochondromatosis, type i10.1
24hereditary multiple osteochondromatosis, type ii10.1
25congenital fibrosarcoma10.0
26chondroma10.0
27extraosseous chondrosarcoma10.0
28image syndrome10.0
29spindle cell hemangioma10.0
30thalamic disease10.0
31gliomatosis cerebri10.0
32acute leukemia10.0
33cerebellar astrocytoma10.0
34cerebellar disease10.0
35ehlers-danlos syndrome10.0
36hemangioma10.0
37vascular disease10.0
38hypophosphatemia10.0PTHLH
39myeloid leukemia10.0PTPN11
40pancreatitis10.0CTSB
41hyperparathyroidism10.0PTHLH
42teratocarcinoma10.0PLAU
43thyroid cancer10.0GNAS
44asthma10.0MMP12
45gigantism10.0GNAS
46bronchopulmonary dysplasia10.0PTHLH
47hypertrophic cardiomyopathy10.0PTPN11
48hypoparathyroidism10.0PTHLH, PTH1R
49interval angle-closure glaucoma10.0IDH1, IDH2
50primary hyperoxaluria10.0MMP2

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



Diseases related to ollier disease

Clinical Features for Ollier Disease

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46OMIM, 48Orphanet
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Clinical features from OMIM:

166000,614569

Clinical synopsis from OMIM:

166000

Symptoms:

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

Drugs & Therapeutics for Ollier Disease

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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

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Sources:
20GeneTests, 22GTR
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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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32MalaCards
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MalaCards organs/tissues related to Ollier Disease:

32
Bone, Skin, Liver, Lung, Pituitary, Breast, Ovary

Animal Models for Ollier Disease or affiliated genes

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36MGI
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Publications for Ollier Disease

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50PubMed
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Articles related to Ollier Disease:

(show all 43)
idTitleAuthorsYear
1
Clinical images: enchondromatosis (Ollier disease). (23918705)
2013
2
Ollier Disease With Digital Enchondromatosis: Anatomic and Functional Imaging. (24152634)
2013
3
PET-positive polyostotic fibrous dysplasia mimicking Ollier disease. (24292588)
2013
4
Treatment of combined spinal deformity in patient with ollier disease and abnormal vertebrae. (24436859)
2013
5
Ovarian cellular fibroma harbouring an isocitrate dehydrogenase 1 (1DH1) mutation in a patient with Ollier disease: evidence for a causal relationship. (23347143)
2013
6
Reconstruction of Ollier disease in a severely involved hand. (23187718)
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
Multifocal intracranial astrocytoma in a pediatric patient with Ollier disease. (22623818)
2012
10
Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome. (22057234)
2011
11
Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. (21533187)
2011
12
Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2. (22057236)
2011
13
Genome-wide analysis of Ollier disease: Is it all in the genes? (21235737)
2011
14
Gliomatosis cerebri in a patient with Ollier disease. (21868231)
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
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
32
Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150C. (15523647)
2004
33
Bilateral symmetrical Ollier disease and Tc-99m MDP bone scintigraphy. (15192478)
2004
34
Ollier disease with synchronous multicentric chondrosarcomas: scintigraphic and radiologic demonstration. (14688600)
2004
35
Both Trevor and Ollier disease limited to one upper extremity. (11904692)
2002
36
Deletion 1p in a low-grade chondrosarcoma in a patient with Ollier disease. (9723029)
1998
37
What syndrome is this? Ollier disease + vascular lesions: Maffucci syndrome. (7792223)
1995
38
Ehlers-Danlos syndrome associated with Ollier disease. (17586905)
1994
39
Ollier disease: an interdisciplinary approach. (8164989)
1994
40
Case report 418: Multiple enchondromatosis (Ollier disease) with severe vertebral changes. (3589742)
1987
41
Case report 405: Ollier disease (enchondromatosis). (3823964)
1987
42
Ollier disease (enchondromatosis) associated with ovarian juvenile granulosa cell tumor and precocious pseudopuberty. (3712163)
1986
43
Fibromuscular dysplasia of intracranial arteries in a patient with multiple enchondromas (Ollier disease). (563016)
1977

Genetic Variations for Ollier Disease

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Expression for genes affiliated with Ollier Disease

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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29KEGG, 12EMD Millipore, 53Reactome, 37NCBI BioSystems Database
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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

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Sources:
44Novoseek, 49PharmGKB, 28IUPHAR, 11DrugBank, 24HMDB, 59Tocris Bioscience, 2BitterDB
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Compounds related to Ollier Disease according to GeneCards/GeneDecks:

(show all 48)
idCompoundScoreTop Affiliating Genes
1dexamethasone44 49 28 1113.4PTH1R, MMP12
2Isocitric Acid11 2411.3IDH1, IDH2
3glutamate4410.2GNAS, IDH1
4calcium carbonate4410.2CD36
5teriparatide44 1111.1PTH1R, CD36
622-oxacalcitriol4410.1CD36, PTHLH
7pge24410.0MMP2, PLAU, PTH1R
8halofuginone4410.0MMP2, CD36
9leupeptin4410.0PTHLH, PLAU, CTSB
10marimastat44 59 1111.9PLAU, MMP12, MMP2
11matrigel449.9PTHLH, PTH1R, PLAU, CTSB
12tartrate449.8PTHLH, CD36
131,25 dihydroxy vitamin d3449.8CTSB, PTH1R, PTHLH
14octreotide44 59 28 1112.8PTHLH, MMP2, GNAS
15zoledronic acid449.8CD36, MMP2, PTHLH
16alendronate44 49 1111.8CD36, MMP2, PTHLH
17ag 1478449.7MMP2, PLAU, PTPN11, PTHLH
18azathioprine44 49 2 1112.6PTHLH, PLAU, MMP2
19aprotinin44 1110.6CTSB, MMP2, PLAU, PTHLH
20calcitriol44 59 11 2412.6CD36, PLAU, PTH1R, PTHLH
21gf 109203x44 5910.5CTSB, PLAU, PTHLH
22batimastat44 59 1111.5CD36, MMP2, MMP12, PLAU
23hydroxyproline44 11 2411.5CTSB, CD36, MMP2, PTHLH
24pamidronate44 49 1111.5PTHLH, CD36
25heparin44 28 11 2412.5CD36, CTSB, EXT1
26hydrocortisone44 2 59 1112.5CD36, MMP2, PLAU, PTHLH
27fibrinogen449.5CTSB, MMP12, PLAU, PTPN11
28tgf beta1449.5CD36, MMP2, PLAU, PTHLH
29heparan sulfate44 2410.4EXT1, EXT2, PLAU, PTHLH
30herbimycin a44 5910.4CD36, MMP2, PLAU, PTPN11
31ribonucleic acid449.4GNAS, MMP2, PLAU, PTH1R, PTHLH
32rosiglitazone44 49 28 11 2413.4PTHLH, MMP2, CD36
33sb 20358044 5910.3CD36, MMP2, PLAU, PTPN11
34thymidine44 2410.2GNAS, CTSB, PLAU, PTPN11, PTH1R, PTHLH
35glutamine449.2IDH1, GNAS, CTSB, CD36, PLAU
36nitric oxide44 11 2411.2GNAS, CTSB, MMP12, PTPN11, PTH1R, PTHLH
37paraffin449.1CTSB, CD36, MMP2, PLAU, PTHLH
38serine449.1GNAS, CTSB, MMP2, MMP12, PTPN11, PTH1R
39ly294002449.1CTSB, CD36, MMP2, PLAU, PTPN11
40creatinine449.1CTSB, CD36, MMP2, PLAU, PTHLH
41h2o2448.9CTSB, CD36, MMP2, PLAU, PTPN11
42retinoic acid44 249.8CTSB, CD36, MMP2, PLAU, PTH1R, PTHLH
43alanine448.8GNAS, CTSB, MMP2, PLAU, PTPN11, PTH1R
44vegf448.7CTSB, CD36, MMP2, MMP12, PLAU, PTPN11
45cysteine448.6GNAS, CTSB, CD36, MMP2, PLAU, PTPN11
46arginine448.5EXT1, EXT2, GNAS, CTSB, PLAU, PTPN11
47tyrosine448.4GNAS, CTSB, MMP2, MMP12, PLAU, PTPN11
48calcium44 49 11 2410.1IDH1, GNAS, CTSB, PPFIBP1, ANKS1B, CD36

GO Terms for genes affiliated with Ollier Disease

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16Gene Ontology
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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Ollier Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet