MCID: ENC044
MIFTS: 44

Enchondromatosis, Multiple, Ollier Type malady

Categories: Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Enchondromatosis, Multiple, Ollier Type

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Sources:
50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 48Novoseek, 37MeSH, 66UMLS, 28ICD10, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT
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Aliases & Descriptions for Enchondromatosis, Multiple, Ollier Type:

Name: Enchondromatosis, Multiple, Ollier Type 50 24
Enchondromatosis 46 24 52 25 37 66
Ollier Disease 11 46 24 13 52 68
Dyschondroplasia 11 46 24 52
Osteochondromatosis 11 68 66
Multiple Cartilaginous Enchondroses 46 24
Enchondromatosis Multiple 68 25
Multiple Enchondromatosis 46 24
Enchondromatosis with Haemangiomata 11
 
Hereditary Multiple Exostoses 66
Enchondromatosis, Multiple 11
Ollier's Syndrome 24
Maffucci Disease 68
Olliers Disease 48
Kast's Syndrome 11
Chondromatosis 37
Enchom 68

Characteristics:

Orphanet epidemiological data:

52
enchondromatosis:
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood

Classifications:



External Ids:

OMIM50 166000
Disease Ontology11 DOID:4624
ICD1028 Q78.4
NCIt43 C3213
Orphanet52 ORPHA296
ICD10 via Orphanet29 Q78.4
MESH via Orphanet38 D004687
UMLS via Orphanet67 C0014084

Summaries for Enchondromatosis, Multiple, Ollier Type

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OMIM:50 Enchondromas are common benign cartilage tumors of bone. They can occur as solitary lesions or as multiple lesions in... (166000) more...

MalaCards based summary: Enchondromatosis, Multiple, Ollier Type, also known as enchondromatosis, is related to carpotarsal osteochondromatosis and hereditary multiple osteochondromatosis, type i, and has symptoms including abnormality of the metaphyses, cavernous hemangioma and osteolysis. An important gene associated with Enchondromatosis, Multiple, Ollier Type is IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2, Mitochondrial), and among its related pathways are Endochondral Ossification and Development_Hedgehog and PTH signaling pathways in bone and cartilage development. Affiliated tissues include bone and skin, and related mouse phenotypes are respiratory system and craniofacial.

Disease Ontology:11 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.

NIH Rare Diseases:46 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

UniProtKB/Swiss-Prot:68 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.

Genetics Home Reference:24 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.

Related Diseases for Enchondromatosis, Multiple, Ollier Type

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Diseases related to Enchondromatosis, Multiple, Ollier Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 69)
idRelated DiseaseScoreTop Affiliating Genes
1carpotarsal osteochondromatosis12.1
2hereditary multiple osteochondromatosis, type i11.9
3hereditary multiple osteochondromatosis, type ii11.9
4synovial chondromatosis11.6
5hereditary multiple exostoses11.4
6upington disease11.3
7dysplasia epiphysealis hemimelica with chondromas and osteochondromas11.0
8hereditary multiple osteochondromas11.0
9subserous uterine fibroid10.8IDH1, IDH2
10spinal cord disease10.8IDH1, IDH2
11endomyocardial fibroelastosis10.8IDH1, IDH2
12cystinosis, nephropathic10.8IDH1, IDH2
13maxillary sinus squamous cell carcinoma10.8IDH1, IDH2
14anaplastic small cell lymphoma10.8IDH1, IDH2
15dyserythropoietic anemia and thrombocytopenia10.7IDH1, IDH2
16gliofibroma10.7IDH1, IDH2
17benign breast phyllodes tumor10.7IDH1, IDH2
18pacman dysplasia10.7EXT1, EXT2
19juvenile astrocytoma10.7IDH1, IDH2
20pericardial tuberculosis10.7IDH1, IDH2
21heritable pulmonary arterial hypertension10.7EXT1, EXT2
22intrahepatic bile duct cystadenoma10.6IDH1, IDH2
23impotence10.6ACP5, PTH1R
24cyclosporiasis10.6ACP5, PTH1R
25ptosis, strabismus, and ectopic pupils10.6PTH1R, PTHLH
26capgras syndrome10.6IDH1, IDH2
27chondrodysplasia, blomstrand type10.6IHH, PTH1R
28nodular hidradenoma10.5EXT1, EXT2
29encephalomalacia10.5EXT1, EXT2
30localized chondrosarcoma10.5EXT1, IDH1, PTHLH
31early myoclonic encephalopathy10.5IDH1, IDH2
32adenomyoma10.5EXT1, PTH1R, PTHLH
33obesity, severe bmiq910.5PTH1R, PTHLH
34retroperitoneal germ cell neoplasm10.5EXT2, PTH1R, PTHLH
35follicular mucinosis10.5ACP5, PTPN11
36transverse colon cancer10.5GALNT3, PTH1R
37metachondromatosis10.5
38kernicterus due to isoimmunization10.5IDH1, IDH2
39osteopetrosis and infantile neuroaxonal dystrophy10.4EXT1, EXT2, PTHLH
40vascular cancer10.4IDH1, IDH2
41toenail dystrophy, isolated10.4IHH, PTH1R, PTHLH
42bone deterioration disease10.4ACP5, EXT1, EXT2
43giant cell glioblastoma10.3IDH1, IDH2, PTPN11
44malignant giant cell tumor of the tendon sheath10.3ACP5, PTPN11
45osteochondroma10.3
46brachydactyly10.3IDH1, IDH2
47osteopathia striata with pigmentary dermopathy including white forelock10.3MATN3, PTH1R
48d-2-hydroxyglutaric aciduria10.3ACP5, IDH1, IDH2, PTH1R
49chondrosarcoma10.2
50enchondroma10.2

Graphical network of the top 20 diseases related to Enchondromatosis, Multiple, Ollier Type:



Diseases related to enchondromatosis, multiple, ollier type

Symptoms for Enchondromatosis, Multiple, Ollier Type

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Symptoms by clinical synopsis from OMIM:

166000

Clinical features from OMIM:

166000

Symptoms:

 52 (show all 20)
  • precocious puberty
  • platyspondyly
  • abnormality of the metaphyses
  • hemangioma
  • joint stiffness
  • subcutaneous nodule
  • anemia
  • abnormality of coagulation
  • bone pain
  • neoplasm
  • abnormal cartilage morphology
  • osteolysis
  • micromelia
  • venous thrombosis
  • multiple enchondromatosis
  • chondrosarcoma
  • sarcoma
  • visceral angiomatosis
  • lymphangioma
  • skin ulcer

HPO human phenotypes related to Enchondromatosis, Multiple, Ollier Type:

(show all 17)
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 ovarian neoplasm occasional (7.5%) HP:0100615
14 lymphangioma occasional (7.5%) HP:0100764
15 skin ulcer occasional (7.5%) HP:0200042
16 multiple enchondromatosis HP:0005701
17 chondrosarcoma HP:0006765

UMLS symptoms related to Enchondromatosis, Multiple, Ollier Type:


pain

Drugs & Therapeutics for Enchondromatosis, Multiple, Ollier Type

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Interventional clinical trials:

idNameStatusNCT IDPhase
1The Health-Related Quality of Life in Patients With Hereditary Multiple ExostosesCompletedNCT00474448
2Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168
3Gene Mutations and Orthopaedic Symptoms Correlation of Multiple Hereditary Exostoses: Multicentre ProjectSuspendedNCT00474331
4Establishing the Genetic Profile of Multiple Hereditary Exostoses (HME) in Families of BCTerminatedNCT00473850

Search NIH Clinical Center for Enchondromatosis, Multiple, Ollier Type


Cochrane evidence based reviews: chondromatosis

Genetic Tests for Enchondromatosis, Multiple, Ollier Type

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Genetic tests related to Enchondromatosis, Multiple, Ollier Type:

id Genetic test Affiliating Genes
1 Enchondromatosis25
2 Multiple Enchondromatosis25

Anatomical Context for Enchondromatosis, Multiple, Ollier Type

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MalaCards organs/tissues related to Enchondromatosis, Multiple, Ollier Type:

34
Bone, Skin

Animal Models for Enchondromatosis, Multiple, Ollier Type or affiliated genes

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MGI Mouse Phenotypes related to Enchondromatosis, Multiple, Ollier Type:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.6IDH1, IHH, PTH1R, PTHLH, PTPN11, TGFB3
2MP:00053828.3EXT1, GALNT3, IHH, PTH1R, PTHLH, PTPN11
3MP:00053818.0EXT1, GALNT3, IHH, PTH1R, PTHLH, PTPN11
4MP:00053716.8EXT1, GALNT3, IDH2, IHH, MATN3, PTH1R
5MP:00053906.2ANKS1B, EXT1, EXT2, GALNT3, IDH1, IDH2
6MP:00053786.1ANKS1B, EXT1, GALNT3, IDH1, IHH, MATN3

Publications for Enchondromatosis, Multiple, Ollier Type

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Variations for Enchondromatosis, Multiple, Ollier Type

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Copy number variations for Enchondromatosis, Multiple, Ollier Type from CNVD:

6 (show all 16)
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
11337011218741GainOllier disease
2174251142693888143978071GainOllier disease
32259511675873916878452GainOllier disease
4258541194993359195068330GainOllier disease
53113012546875125519541GainOllier disease
643414104640124346481060GainOllier disease
744132105242095053725280Copy numberPRKG1Ollier disease
852709111890578118918566GainOllier disease
9562081157454105759390GainOllier disease
1073850129765320198902563Copy numberANKS1BOllier disease
1117862237555340175566889Copy numberFAM86DOllier disease
1218882746905605569170240GainOllier disease
132210897142155398142171867GainOllier disease
1423315181228669412287223GainOllier disease
1525372294488990447006984GainOllier disease
1625441696533613870168361GainOllier disease

Expression for genes affiliated with Enchondromatosis, Multiple, Ollier Type

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Search GEO for disease gene expression data for Enchondromatosis, Multiple, Ollier Type.

Pathways for genes affiliated with Enchondromatosis, Multiple, Ollier Type

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Pathways related to Enchondromatosis, Multiple, Ollier Type according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.6IHH, PTH1R, PTHLH
29.6IHH, PTH1R, PTHLH

GO Terms for genes affiliated with Enchondromatosis, Multiple, Ollier Type

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Biological processes related to Enchondromatosis, Multiple, Ollier Type according to GeneCards Suite gene sharing:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1glyoxylate cycleGO:000609710.6IDH1, IDH2
2isocitrate metabolic processGO:000610210.6IDH1, IDH2
3cellular polysaccharide biosynthetic processGO:003369210.5EXT1, EXT2
4osteoblast developmentGO:000207610.4PTH1R, PTHLH
5heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic processGO:001501410.2EXT1, EXT2
6bone resorptionGO:004545310.2ACP5, PTH1R
7tricarboxylic acid cycleGO:000609910.2IDH1, IDH2
82-oxoglutarate metabolic processGO:000610310.2IDH1, IDH2
9heparan sulfate proteoglycan biosynthetic processGO:00150129.9EXT1, EXT2
10face morphogenesisGO:00603259.6PTPN11, TGFB3
11ossificationGO:00015039.1ACP5, EXT1, EXT2, PTH1R
12skeletal system developmentGO:00015018.6EXT1, IHH, MATN3, PTH1R, PTHLH

Molecular functions related to Enchondromatosis, Multiple, Ollier Type according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1isocitrate dehydrogenase activityGO:000444810.5IDH1, IDH2
2isocitrate dehydrogenase (NADP+) activityGO:000445010.5IDH1, IDH2
3heparan sulfate N-acetylglucosaminyltransferase activityGO:004232810.4EXT1, EXT2
4N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activityGO:005050910.4EXT1, EXT2
5glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activityGO:005050810.4EXT1, EXT2
6peptide hormone receptor bindingGO:005142810.2PTHLH, PTPN11
7acetylglucosaminyltransferase activityGO:000837510.0EXT1, EXT2
8transferase activity, transferring glycosyl groupsGO:00167579.9EXT1, EXT2
9glucuronosyltransferase activityGO:00150209.8EXT1, EXT2

Sources for Enchondromatosis, Multiple, Ollier Type

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet