ENCHOM
MCID: ENC044
MIFTS: 44

Enchondromatosis, Multiple, Ollier Type (ENCHOM) 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
Enchondromatosis Multiple 70 27
Multiple Enchondromatosis 48 25
Chondromatosis 39 68
 
Enchondromatosis with Haemangiomata 11
Hereditary Multiple Exostoses 68
Enchondromatosis, Multiple 11
Ollier's Syndrome 25
Maffucci Disease 70
Olliers Disease 50
Kast's Syndrome 11
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 hereditary multiple osteochondromatosis, type i, and has symptoms including pain, pain and Array. An important gene associated with Enchondromatosis, Multiple, Ollier Type is PTH1R (Parathyroid Hormone 1 Receptor), and among its related pathways are Cytosine methylation and Endochondral Ossification. Affiliated tissues include bone and skin, and related mouse phenotypes are respiratory system and craniofacial.

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.

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.

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.

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 61)
idRelated DiseaseScoreTop Affiliating Genes
1carpotarsal osteochondromatosis12.0
2hereditary multiple osteochondromatosis, type i11.8
3hereditary multiple osteochondromatosis, type ii11.8
4synovial chondromatosis11.7
5hereditary multiple exostoses11.6
6upington disease11.4
7metachondromatosis11.1
8dysplasia epiphysealis hemimelica with chondromas and osteochondromas10.9
9hereditary multiple osteochondromas10.9
10multiple enchondromatosis, maffucci type10.8
11childhood ovarian cancer10.8
12optic disk drusen10.3IDH1, IDH2
13enterovesical fistula10.3IDH1, IDH2
14acrocallosal syndrome10.3IDH1, IDH2
15neurilemmoma10.3IDH1, IDH2
16testis refractory cancer10.3IDH1, IDH2
17cystinosis, nephropathic10.3IDH1, IDH2
18erythroderma, lethal congenital10.3EXT1, EXT2
19binocular vision disease10.3PTH1R, PTHLH
20small cell osteogenic sarcoma10.3IDH1, IDH2
21glycogen storage disease type 010.3IDH1, IDH2
22trichorhinophalangeal syndrome, type ii10.3EXT1, EXT2
23angioma hereditary neurocutaneous10.3IDH1, IDH2
24eiken syndrome10.3IHH, PTH1R
25breast papillomatosis10.2IDH1, IDH2
26spinal cord astrocytoma10.2IDH1, IDH2
27vulvar syringoma10.2EXT1, EXT2
28transverse colon cancer10.2EXT1, PTH1R, PTHLH
29prosopagnosia10.2IDH1, IDH2
30apocrine sweat gland neoplasm10.2EXT1, IDH1, PTHLH
31malignant adult ependymoma10.2EXT2, PTH1R, PTHLH
32ovarian epithelial cancer10.2EXT1, EXT2, PTHLH
33toenail dystrophy, isolated10.2IHH, PTH1R, PTHLH
34parathyroid carcinoma10.2ACP5, PTH1R, PTHLH
35agammaglobulinemia 8, autosomal dominant10.2IDH1, IDH2
36waardenburg syndrome, type 4b10.2PTH1R, PTHLH
37osteochondroma10.2
38ischemic bone disease10.2ACP5, EXT1, EXT2
39mental retardation, autosomal recessive 4010.1EXT1, EXT2, PTHLH
40systemic lupus erythematosus 210.1ACP5, IDH1, IDH2, PTH1R
41isolated gonadotropin-releasing hormone deficiency10.1EXT1, EXT2
42chondrosarcoma10.1
43metachronous osteosarcoma of the bone10.1HSP90AA1, IDH1, PTHLH
44cystic lymphangioma10.1IDH1, IDH2
45enchondroma10.1
46basilar artery insufficiency10.1IDH1, IDH2, PTPN11
47slti salem syndrome10.0MATN3, PTH1R, PTHLH
48astrocytoma9.9
49neuropathy, ataxia, and retinitis pigmentosa9.9EXT1, EXT2, IDH1, IDH2, IHH, PTH1R
50lung cancer9.7

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:

 54 64 (show all 21)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 precocious puberty64 54 Occasional (29-5%) HP:0000826
2 platyspondyly64 54 Occasional (29-5%) HP:0000926
3 abnormality of the metaphyses64 54 Very frequent (99-80%) HP:0000944
4 hemangioma64 54 Very frequent (99-80%) HP:0001028
5 joint stiffness64 54 Frequent (79-30%) HP:0001387
6 subcutaneous nodule64 54 Frequent (79-30%) HP:0001482
7 anemia64 54 Occasional (29-5%) HP:0001903
8 abnormality of coagulation64 54 Occasional (29-5%) HP:0001928
9 bone pain64 54 Frequent (79-30%) HP:0002653
10 neoplasm54 Occasional (29-5%)
11 abnormal cartilage morphology54 Very frequent (99-80%)
12 osteolysis64 54 Very frequent (99-80%) HP:0002797
13 micromelia64 54 Very frequent (99-80%) HP:0002983
14 venous thrombosis64 54 Occasional (29-5%) HP:0004936
15 multiple enchondromatosis64 54 Very frequent (99-80%) HP:0005701
16 chondrosarcoma64 54 Occasional (29-5%) HP:0006765
17 sarcoma54 Occasional (29-5%)
18 visceral angiomatosis64 54 Very frequent (99-80%) HP:0100761
19 lymphangioma64 54 Occasional (29-5%) HP:0100764
20 skin ulcer64 54 Occasional (29-5%) HP:0200042
21 abnormality of long bone morphology64 HP:0011314

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:00053889.3IDH1, IHH, PTH1R, PTHLH, PTPN11, TGFB3
2MP:00053828.9EXT1, GALNT3, IHH, PTH1R, PTHLH, PTPN11
3MP:00053818.9EXT1, GALNT3, IHH, PTH1R, PTHLH, PTPN11
4MP:00053717.8EXT1, 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
1
Show member pathways
10.0IDH1, IDH2
29.7IHH, PTH1R, PTHLH
39.7IHH, 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 13)
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
5cellular polysaccharide biosynthetic processGO:003369210.5EXT1, EXT2
6heparan sulfate proteoglycan biosynthetic processGO:001501210.5EXT1, EXT2
7heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic processGO:001501410.5EXT1, EXT2
8embryonic skeletal joint developmentGO:007249810.5EXT1, IHH
9ossificationGO:000150310.3EXT1, EXT2, PTH1R
10bone resorptionGO:004545310.2ACP5, IHH, PTH1R
11positive regulation of collagen biosynthetic processGO:003296710.2IHH, TGFB3
12regulation of protein complex assemblyGO:004325410.0HSP90AA1, PTPN11
13skeletal system developmentGO:00015018.6EXT1, 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
9protein tyrosine kinase bindingGO:19907829.5HSP90AA1, PTPN11
10protein homodimerization activityGO:00428038.8EXT1, 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