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:
11Disease Ontology, 13DISEASES, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Enchondromatosis, Multiple, Ollier Type:

Name: Enchondromatosis, Multiple, Ollier Type 52 25
Enchondromatosis 48 25 54 27 39 68
Ollier Disease 11 48 25 54 70 13
Dyschondroplasia 11 48 25 54
Osteochondromatosis 11 70 68
Multiple Cartilaginous Enchondroses 48 25
Multiple Enchondromatosis 48 25
Enchondromatosis Multiple 70 27
Chondromatosis 39 68
 
Enchondromatosis with Haemangiomata 11
Hereditary Multiple Exostoses 68
Enchondromatosis, Multiple 11
Ollier's Syndrome 25
Maffucci Disease 70
Kast's Syndrome 11
Olliers Disease 50
Enchom 70

Characteristics:

Orphanet epidemiological data:

54
enchondromatosis:
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood

Classifications:



External Ids:

OMIM52 166000
Disease Ontology11 DOID:4624
ICD1030 Q78.4
NCIt45 C3213
Orphanet54 ORPHA296
MESH via Orphanet40 D004687
UMLS via Orphanet69 C0014084
ICD10 via Orphanet31 Q78.4

Summaries for Enchondromatosis, Multiple, Ollier Type

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OMIM:52 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 synovial chondromatosis, and has symptoms including abnormality of the metaphyses, cavernous hemangioma and osteolysis. An important gene associated with Enchondromatosis, Multiple, Ollier Type is PTH1R (Parathyroid Hormone 1 Receptor), 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.

Genetics Home Reference:25 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.

NIH Rare Diseases:48 Ollier disease is a skeletal disorder characterized by multiple enchondromas, which are noncancerous (benign) growths of cartilage that develop within the bones. These growths may lead to skeletal deformities, limb discrepancy, and fractures. The enchondromas primarily occur in the limb bones, especially the bones of the hands and feet. They tend to develop near the ends of the bones, where growth occurs. Symptoms often appear in the first decade of life. The underlying cause of Ollier disease is not fully understood. In many people, the condition can be attributed to somatic mutations in the IDH1 or IDH2 gene. The disease is not typically inherited. Treatment is conservative in most cases, although surgery may be indicated in cases where complications (pathological fractures, growth defects, malignant transformation) arise. Last updated: 12/12/2016

UniProtKB/Swiss-Prot:70 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.

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 70)
idRelated DiseaseScoreTop Affiliating Genes
1carpotarsal osteochondromatosis12.0
2synovial chondromatosis11.8
3hereditary multiple osteochondromatosis, type i11.8
4hereditary multiple osteochondromatosis, type ii11.8
5upington disease11.4
6metachondromatosis11.2
7dysplasia epiphysealis hemimelica with chondromas and osteochondromas10.9
8hereditary multiple osteochondromas10.9
9multiple enchondromatosis, maffucci type10.8
10exostoses, multiple, type 110.7
11subserous uterine fibroid10.7IDH1, IDH2
12spinal cord disease10.7IDH1, IDH2
13endomyocardial fibroelastosis10.6IDH1, IDH2
14cystinosis, nephropathic10.6IDH1, IDH2
15maxillary sinus squamous cell carcinoma10.6IDH1, IDH2
16anaplastic small cell lymphoma10.6IDH1, IDH2
17dyserythropoietic anemia and thrombocytopenia10.6IDH1, IDH2
18gliofibroma10.6IDH1, IDH2
19pacman dysplasia10.6EXT1, EXT2
20benign breast phyllodes tumor10.6IDH1, IDH2
21heritable pulmonary arterial hypertension10.6EXT1, EXT2
22juvenile astrocytoma10.6IDH1, IDH2
23impotence10.6ACP5, PTH1R
24pericardial tuberculosis10.6IDH1, IDH2
25intrahepatic bile duct cystadenoma10.5IDH1, IDH2
26chondrodysplasia, blomstrand type10.5IHH, PTH1R
27cyclosporiasis10.5ACP5, PTH1R
28ptosis, strabismus, and ectopic pupils10.5PTH1R, PTHLH
29capgras syndrome10.5IDH1, IDH2
30nodular hidradenoma10.5EXT1, EXT2
31adenomyoma10.4EXT1, PTH1R, PTHLH
32obesity, severe bmiq910.4PTH1R, PTHLH
33encephalomalacia10.4EXT1, EXT2
34localized chondrosarcoma10.4EXT1, IDH1, PTHLH
35retroperitoneal germ cell neoplasm10.4EXT2, PTH1R, PTHLH
36transverse colon cancer10.4GALNT3, PTH1R
37early myoclonic encephalopathy10.4IDH1, IDH2
38follicular mucinosis10.4ACP5, PTPN11
39osteopetrosis and infantile neuroaxonal dystrophy10.4EXT1, EXT2, PTHLH
40toenail dystrophy, isolated10.4IHH, PTH1R, PTHLH
41kernicterus due to isoimmunization10.4IDH1, IDH2
42vascular cancer10.3IDH1, IDH2
43papillary thymic adenocarcinoma10.3IDH1, IDH2
44bone deterioration disease10.3ACP5, EXT1, EXT2
45malignant giant cell tumor of the tendon sheath10.3ACP5, PTPN11
46giant cell glioblastoma10.3IDH1, IDH2, PTPN11
47d-2-hydroxyglutaric aciduria10.2ACP5, IDH1, IDH2, PTH1R
48osteochondroma10.2
49small cell osteogenic sarcoma10.1HSP90AA1, IDH1, PTHLH
50chondrosarcoma10.1

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



Diseases related to enchondromatosis, multiple, ollier type

Symptoms & Phenotypes for Enchondromatosis, Multiple, Ollier Type

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Symptoms by clinical synopsis from OMIM:

166000

Clinical features from OMIM:

166000

Human phenotypes related to Enchondromatosis, Multiple, Ollier Type:

 64 54 (show all 24)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the metaphyses64 54 hallmark (90%) Very frequent (99-80%) HP:0000944
2 cavernous hemangioma64 hallmark (90%) HP:0001048
3 osteolysis64 54 hallmark (90%) Very frequent (99-80%) HP:0002797
4 micromelia64 54 hallmark (90%) Very frequent (99-80%) HP:0002983
5 visceral angiomatosis64 54 hallmark (90%) Very frequent (99-80%) HP:0100761
6 limitation of joint mobility64 typical (50%) HP:0001376
7 bone pain64 54 typical (50%) Frequent (79-30%) HP:0002653
8 precocious puberty64 54 occasional (7.5%) Occasional (29-5%) HP:0000826
9 platyspondyly64 54 occasional (7.5%) Occasional (29-5%) HP:0000926
10 anemia64 54 occasional (7.5%) Occasional (29-5%) HP:0001903
11 abnormality of coagulation64 54 occasional (7.5%) Occasional (29-5%) HP:0001928
12 thrombophlebitis64 occasional (7.5%) HP:0004418
13 ovarian neoplasm64 occasional (7.5%) HP:0100615
14 lymphangioma64 54 occasional (7.5%) Occasional (29-5%) HP:0100764
15 skin ulcer64 54 occasional (7.5%) Occasional (29-5%) HP:0200042
16 multiple enchondromatosis64 54 Very frequent (99-80%) HP:0005701
17 chondrosarcoma64 54 Occasional (29-5%) HP:0006765
18 hemangioma54 Very frequent (99-80%)
19 joint stiffness54 Frequent (79-30%)
20 subcutaneous nodule54 Frequent (79-30%)
21 neoplasm54 Occasional (29-5%)
22 abnormal cartilage morphology54 Very frequent (99-80%)
23 venous thrombosis54 Occasional (29-5%)
24 sarcoma54 Occasional (29-5%)

UMLS symptoms related to Enchondromatosis, Multiple, Ollier Type:


pain

MGI Mouse Phenotypes related to Enchondromatosis, Multiple, Ollier Type according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053889.2IDH1, IHH, PTH1R, PTHLH, PTPN11, TGFB3
2MP:00053828.8EXT1, GALNT3, IHH, PTH1R, PTHLH, PTPN11
3MP:00053818.8EXT1, GALNT3, IHH, PTH1R, PTHLH, PTPN11
4MP:00053717.7EXT1, GALNT3, IDH2, IHH, MATN3, PTH1R
5MP:00053787.3ANKS1B, EXT1, GALNT3, IDH1, IHH, MATN3
6MP:00053906.0ANKS1B, EXT1, EXT2, GALNT3, IDH1, IDH2

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
2Gene Mutations and Orthopaedic Symptoms Correlation of Multiple Hereditary Exostoses: Multicentre ProjectSuspendedNCT00474331
3Establishing 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 Enchondromatosis27
2 Multiple Enchondromatosis27

Anatomical Context for Enchondromatosis, Multiple, Ollier Type

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

36
Bone, Skin

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
19.7IHH, PTH1R, PTHLH
29.7IHH, 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
12-oxoglutarate metabolic processGO:000610310.6IDH1, IDH2
2glyoxylate cycleGO:000609710.6IDH1, IDH2
3isocitrate metabolic processGO:000610210.6IDH1, IDH2
4osteoblast developmentGO:000207610.6PTH1R, PTHLH
5bone resorptionGO:004545310.6ACP5, PTH1R
6cellular polysaccharide biosynthetic processGO:003369210.5EXT1, EXT2
7heparan sulfate proteoglycan biosynthetic processGO:001501210.5EXT1, EXT2
8heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic processGO:001501410.5EXT1, EXT2
9regulation of protein complex assemblyGO:004325410.0HSP90AA1, PTPN11
10tricarboxylic acid cycleGO:000609910.0IDH1, IDH2
11ossificationGO:000150310.0ACP5, EXT1, EXT2, PTH1R
12skeletal system developmentGO:00015019.0EXT1, IHH, MATN3, PTH1R, PTHLH

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1isocitrate dehydrogenase (NADP+) activityGO:000445010.7IDH1, IDH2
2isocitrate dehydrogenase activityGO:000444810.7IDH1, IDH2
3acetylglucosaminyltransferase activityGO:000837510.6EXT1, EXT2
4glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activityGO:005050810.6EXT1, EXT2
5glucuronosyltransferase activityGO:001502010.6EXT1, EXT2
6heparan sulfate N-acetylglucosaminyltransferase activityGO:004232810.6EXT1, EXT2
7N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activityGO:005050910.6EXT1, EXT2
8peptide hormone receptor bindingGO:005142810.5PTHLH, PTPN11
9transferase activity, transferring glycosyl groupsGO:00167579.9EXT1, EXT2
10protein homodimerization activityGO:00428039.1EXT1, EXT2, GALE, HSP90AA1, IDH1

Sources for Enchondromatosis, Multiple, Ollier Type

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet