MCID: OLL001
MIFTS: 66

Ollier Disease malady

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

Summaries for Ollier Disease

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9Disease Ontology, 44NIH Rare Diseases, 22Genetics Home Reference, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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 abnormalĀ 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: 7/28/2014

MalaCards: Ollier Disease, also known as maffucci syndrome, is related to osteochondroma and hereditary multiple exostoses, and has symptoms including bone pain, bone tumefaction/swelling and bone tumefaction/swelling. 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 liver, 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.

Genetics Home Reference:22 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:66 Ollier disease is a rare nonhereditary sporadic disorder where intraosseous benign cartilaginous tumors... more...

Description from OMIM:48 166000,614569

Aliases & Classifications for Ollier Disease

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9Disease Ontology, 44NIH Rare Diseases, 11DISEASES, 50Orphanet, 22Genetics Home Reference, 48OMIM, 63UMLS, 21GeneTests, 23GTR, 46Novoseek, 36MeSH, 59SNOMED-CT, 41NCIt, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet, 37MESH via Orphanet, 26ICD10
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Classifications:



Characteristics (Orphanet epidemiological data):

50
maffucci syndrome:
Inheritance: Sporadic; Age of onset: Childhood
enchondromatosis:
Inheritance: Sporadic; Prevalence: 1-9/100000; Age of onset: Childhood


Aliases & Descriptions:

ollier disease 9 44 11 50
maffucci syndrome 9 44 22 50 48 63
enchondromatosis 44 23 50 48
osteochondromatosis 9 21 63
dyschondroplasia 9 44 50
multiple angiomas and endochondromas 44 22
hemangiomatosis chondrodystrophica 44 22
kast syndrome 44 22
enchondromatosis with multiple cavernous hemangiomas 44
dyschondroplasia and cavernous hemangioma 22
dyschondrodysplasia with hemangiomas 44
enchondromatosis with haemangiomata 9
multiple cartilaginous enchondroses 44
hemangiomata with dyschondroplasia 22
enchondromatosis with hemangiomata 22
chondrodysplasia with hemangioma 22
chondroplasia angiomatosis 22
enchondromatosis, multiple 9
multiple enchondromatosis 44
kast's syndrome 9
olliers disease 46


External Ids:

Disease Ontology9 DOID:4624
NCIt41 C3213
ICD10 via Orphanet27 Q78.4
SNOMED-CT via Orphanet60 46041001, 268274005
UMLS via Orphanet64 C0024454, C0014084
MESH via Orphanet37 D004687
ICD1026 Q78.4

Related Diseases for Ollier Disease

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Sources:
18GeneCards, 19GeneDecks
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Diseases related to Ollier Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 89)
idRelated DiseaseScoreTop Affiliating Genes
1osteochondroma30.6PTHLH, EXT2, EXT1
2hereditary multiple exostoses30.4EXT1, EXT2
3chondrosarcoma30.4EXT1, EXT2, PTH1R, PTHLH
4exostosis30.0EXT1, EXT2
5osteochondrosis10.6
6carpotarsal osteochondromatosis10.5
7enchondroma10.3
8synovial chondromatosis10.3
9achondroplasia10.2
10adenoma10.2
11pituitary adenoma10.2
12astrocytoma10.2
13enchondromatosis dwarfism deafness10.1
14spindle cell sarcoma10.1
15synovitis10.1
16hereditary multiple osteochondromatosis, type i10.1
17hereditary multiple osteochondromatosis, type ii10.1
18mccune albright syndrome10.1GNAS
19interval angle-closure glaucoma10.1IDH2, IDH1
20cherubism10.1PTPN11
21intraductal papilloma10.1IDH1, IDH2
22d-2-hydroxyglutaric aciduria10.1IDH2, IDH1
23brachydactyly10.1GNAS
24osteochondrodysplasia10.1PTHLH, PTH1R
25metaphyseal dysplasia10.1PTHLH, PTH1R
26congenital fibrosarcoma10.1
27chondroma10.1
28extraosseous chondrosarcoma10.1
29fibrosarcoma10.1
30meningioma10.1
31sarcoma10.1
32hemangioendothelioma10.1
33soft tissue sarcoma10.1
34dysspondyloenchondromatosis10.1
35hypoparathyroidism10.1PTH1R, PTHLH
36primary hyperparathyroidism10.1PTH1R, PTHLH
37dwarfism10.1PTH1R, PTHLH
38hyperprolactinemia10.1GNAS, PTHLH
39parathyroid adenoma10.0GNAS, PTHLH
40leydig cell tumor10.0PTHLH, GNAS
41prolactinoma10.0PTHLH, GNAS
42pseudohypoparathyroidism type 1b10.0PTHLH, GNAS, PTH1R
43spindle cell hemangioma10.0
44fibroma10.0
45gliomatosis cerebri10.0
46fibrous dysplasia10.0
47ehlers-danlos syndrome10.0
48hemangioma10.0
49leukemia10.0
50lung cancer10.0

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



Diseases related to ollier disease

Symptoms for Ollier Disease

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

166000

Clinical features from OMIM:

166000,614569

Symptoms:

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

Drugs & Therapeutics for Ollier Disease

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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21GeneTests, 23GTR
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Genetic tests related to Ollier Disease:

id Genetic test Affiliating Genes
1 Osteochondromatosis21
2 Enchondromatosis23

Anatomical Context for Ollier Disease

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34MalaCards
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MalaCards organs/tissues related to Ollier Disease:

34
Bone, Skin, Liver, Lung, Pituitary, Ovary, Breast

Animal Models for Ollier Disease or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Ollier Disease:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053768.3IDH1, GNAS, PTH1R, PTHLH, PTPN11, TDP1
2MP:00053718.2PTH1R, PTHLH, PTPN11, EXT1, GNAS
3MP:00053828.0GNAS, EXT1, PTPN11, PTHLH, PTH1R
4MP:00053907.8EXT1, GNAS, PTH1R, PTHLH, PTPN11, EXT2

Publications for Ollier Disease

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53PubMed
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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

Variations for Ollier Disease

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Expression for genes affiliated with Ollier Disease

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2BioGPS, 16Gene 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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Sources:
51PathCards, 56Reactome, 39NCBI BioSystems Database, 31KEGG, 61Thomson Reuters, 54QIAGEN, 52PharmGKB
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Pathways related to Ollier Disease according to GeneCards/GeneDecks:

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
TCA cycle39
pyruvate decarboxylation to acetyl CoA39
NAD phosphorylation and dephosphorylation39
TCA Cycle39
conversion of glucose to acetyl CoA and entry into the TCA cycle39
9.9IDH2, IDH1
2
Show member pathways
glutathione-mediated detoxification I39
glutathione redox reactions I39
glutathione redox reactions II39
4-hydroxy-2-nonenal detoxification39
Glutathione metabolism61
Glutathione metabolism39
9.9IDH2, IDH1
39.8PTH1R, PTHLH
49.7PTH1R, GNAS
59.4PTHLH, GNAS, PTH1R
69.4PTHLH, GNAS, PTH1R
7
Show member pathways
9.4PTHLH, PTH1R, GNAS
8
Show member pathways
9.3EXT2, EXT1
9
Show member pathways
heparan sulfate biosynthesis (late stages)39
9.3EXT1, EXT2
108.6IDH1, PTPN11, EXT2, EXT1
11
Show member pathways
8.3GNAS, EXT2, IDH1, IDH2, EXT1

Compounds for genes affiliated with Ollier Disease

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25HMDB, 12DrugBank, 46Novoseek, 30IUPHAR, 62Tocris Bioscience, 52PharmGKB
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Compounds related to Ollier Disease according to GeneCards/GeneDecks:

(show all 21)
idCompoundScoreTop Affiliating Genes
1Oxalosuccinic acid2510.2IDH2, IDH1
2Isocitric acid25 1211.2IDH1, IDH2
3isocitrate4610.1IDH1, IDH2
4Oxoglutaric acid2510.0IDH2, IDH1
5guanosine 5-o-(3-thiotriphosphate)4610.0PTH1R, GNAS
6phosphorus469.9PTHLH, PTH1R
7ccl446 3010.9PTH1R, PTHLH
8ribonucleic acid469.7PTH1R, PTHLH, GNAS
9octreotide46 62 30 1212.6GNAS, PTHLH
10Uridine diphosphate-N-acetylglucosamine259.6EXT1, EXT2
11nadph46 2510.4PTPN11, IDH2, IDH1
12pge2469.4PTH1R, GNAS, PTHLH
13heparan sulfate46 2510.3EXT2, EXT1, PTHLH
14forskolin46 52 1211.3PTPN11, PTHLH, GNAS, PTH1R
15thymidine46 2510.3GNAS, PTHLH, PTPN11, PTH1R
16nitric oxide46 25 1211.2GNAS, PTHLH, PTH1R, PTPN11
17threonine469.2PTHLH, PTH1R, GNAS, PTPN11
18alanine469.1PTH1R, GNAS, PTPN11, PTHLH
19hydrogen46 2510.1PTPN11, PTHLH, PTH1R
20arginine468.5EXT2, PTPN11, PTHLH, GNAS, EXT1
21calcium46 52 25 1211.4PTPN11, PTH1R, GNAS, PTHLH, IDH1, PPFIBP1

GO Terms for genes affiliated with Ollier Disease

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17Gene Ontology
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Biological processes related to Ollier Disease according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1glyoxylate cycleGO:00609710.2IDH2, IDH1
2isocitrate metabolic processGO:00610210.1IDH2, IDH1
32-oxoglutarate metabolic processGO:00610310.1IDH1, IDH2
4osteoblast developmentGO:00207610.0PTH1R, PTHLH
5tricarboxylic acid cycleGO:0060999.9IDH1, IDH2
6endochondral ossificationGO:0019589.8GNAS, PTHLH
7adenylate cyclase-activating G-protein coupled receptor signaling pathwayGO:0071899.7PTHLH, PTH1R, GNAS
8cellular polysaccharide biosynthetic processGO:0336929.6EXT2, EXT1
9endoderm developmentGO:0074929.6EXT1, PTHLH
10positive regulation of cAMP biosynthetic processGO:0308199.6PTHLH, GNAS
11heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic processGO:0150149.6EXT1, EXT2
12heparan sulfate proteoglycan biosynthetic processGO:0150129.6EXT1, EXT2
13skeletal system developmentGO:0015019.4EXT1, PTHLH, PTH1R
14carbohydrate metabolic processGO:0059759.0EXT1, EXT2, IDH2
15glycosaminoglycan biosynthetic processGO:0060249.0EXT2, EXT1
16small molecule metabolic processGO:0442818.5EXT1, EXT2, GNAS, IDH1, IDH2

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1isocitrate dehydrogenase (NADP+) activityGO:00445010.1IDH1, IDH2
2NAD bindingGO:0512879.9IDH1, IDH2
3peptide hormone receptor bindingGO:0514289.7PTHLH, PTPN11
4heparan sulfate N-acetylglucosaminyltransferase activityGO:0423289.5EXT1, EXT2
5N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activityGO:0505099.5EXT1, EXT2
6glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activityGO:0505089.4EXT1, EXT2
7acetylglucosaminyltransferase activityGO:0083759.3EXT1, EXT2
8transferase activity, transferring glycosyl groupsGO:0167579.2EXT1, EXT2
9glucuronosyltransferase activityGO:0150209.0EXT1, EXT2

Products for genes affiliated with Ollier Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Ollier Disease

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet