MCID: ENC044
MIFTS: 45

Enchondromatosis, Multiple, Ollier Type

Categories: Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Enchondromatosis, Multiple, Ollier Type

MalaCards integrated aliases for Enchondromatosis, Multiple, Ollier Type:

Name: Enchondromatosis, Multiple, Ollier Type 54 25
Enchondromatosis 50 25 56 29 42 69
Ollier Disease 12 50 25 56 71 14
Dyschondroplasia 12 50 25 56
Multiple Enchondromatosis 50 25 29
Osteochondromatosis 12 71 69
Multiple Cartilaginous Enchondroses 50 25
Chondromatosis 42 69
Enchondromatosis with Haemangiomata 12
Hereditary Multiple Exostoses 69
Enchondromatosis, Multiple 12
Enchondromatosis Multiple 71
Ollier's Syndrome 25
Maffucci Disease 71
Kast's Syndrome 12
Olliers Disease 52
Enchom 71

Characteristics:

Orphanet epidemiological data:

56
enchondromatosis
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood;

OMIM:

54
Inheritance:
? autosomal dominant form


Classifications:



Summaries for Enchondromatosis, Multiple, Ollier Type

NIH Rare Diseases : 50 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

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 anemia, platyspondyly and hemangioma. An important gene associated with Enchondromatosis, Multiple, Ollier Type is PTH1R (Parathyroid Hormone 1 Receptor), and among its related pathways/superpathways are Endochondral Ossification and Development_Hedgehog and PTH signaling pathways in bone and cartilage development. Affiliated tissues include bone and skin, and related phenotypes are craniofacial and growth/size/body region

UniProtKB/Swiss-Prot : 71 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.

OMIM : 54
Enchondromas are common benign cartilage tumors of bone. They can occur as solitary lesions or as multiple lesions in enchondromatosis. When hemangiomata are associated, the condition is known as Maffucci syndrome (614569). Clinical problems caused by enchondromas include skeletal deformity and the potential for malignant change to osteosarcoma (Schwartz et al., 1987). (166000)

Disease Ontology : 12 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

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

(show top 50) (show all 67)
id Related Disease Score Top Affiliating Genes
1 carpotarsal osteochondromatosis 12.2
2 hereditary multiple osteochondromatosis, type i 11.8
3 hereditary multiple osteochondromatosis, type ii 11.8
4 synovial chondromatosis 11.7
5 hereditary multiple exostoses 11.6
6 upington disease 11.4
7 metachondromatosis 11.1
8 multiple enchondromatosis, maffucci type 11.0
9 childhood ovarian cancer 10.8
10 optic disk drusen 10.8 IDH1 IDH2
11 nemaline myopathy 10.8 IDH1 IDH2
12 endolymphatic sac tumor 10.8 IDH1 IDH2
13 mixed oligodendroglioma-astrocytoma 10.8 IDH1 IDH2
14 hereditary multiple osteochondromas 10.8
15 dysplasia epiphysealis hemimelica with chondromas and osteochondromas 10.8
16 congenital disorder of glycosylation, type if 10.7 IDH1 IDH2
17 binocular vision disease 10.7 PTH1R PTHLH
18 anca-associated vasculitis 10.7 IDH1 IDH2
19 essential pentosuria 10.7 IDH1 IDH2
20 pacman dysplasia 10.7 EXT1 EXT2
21 bone osteosarcoma 10.7 IDH1 IDH2
22 breast papillomatosis 10.7 IDH1 IDH2
23 acute pre-b-cell lymphoblastic leukemia 10.7 IDH1 IDH2
24 early myoclonic encephalopathy 10.7 IDH1 IDH2
25 neurotic disorder 10.7 IDH1 IDH2
26 waardenburg syndrome, type 4b 10.6 PTH1R PTHLH
27 eiken syndrome 10.6 IHH PTH1R
28 corneal staphyloma 10.6 ACP5 PTH1R
29 schwannoma of jugular foramen 10.5 IDH1 IDH2
30 heritable thoracic aortic disease 10.5 EXT1 EXT2
31 transverse colon cancer 10.5 EXT1 PTH1R PTHLH
32 apocrine sweat gland neoplasm 10.5 EXT2 PTH1R PTHLH
33 internal hordeolum 10.5 ACP5 PTPN11
34 vulvar syringoma 10.5 EXT1 EXT2
35 metaphyseal anadysplasia 2 10.5 ACP5 PTHLH
36 osteopetrosis and infantile neuroaxonal dystrophy 10.5 EXT1 EXT2 PTHLH
37 polyglucosan body disease, adult form 10.4 IHH PTH1R PTHLH
38 hyperparathyroidism, familial primary 10.4 ACP5 PTH1R PTHLH
39 bronchus cancer 10.4 ACP5 PTH1R
40 glutaric aciduria iii 10.4 PTH1R PTHLH
41 obesity, severe bmiq9 10.4 PTH1R PTHLH
42 bone deterioration disease 10.4 ACP5 EXT1 EXT2
43 osteochondrosis 10.3
44 juxtacortical chondrosarcoma 10.3 EXT1 IDH1 IDH2 PTHLH
45 systemic lupus erythematosus 2 10.3 ACP5 IDH1 IDH2 PTH1R
46 malignant giant cell tumor 10.2 ACP5 PTPN11
47 enthesopathy 10.2 EXT1 EXT2
48 osteochondroma 10.2
49 chondrosarcoma 10.1
50 enchondroma 10.1

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

Symptoms via clinical synopsis from OMIM:

54

Oncology:
chondrosarcoma
ovarian juvenile granulosa cell tumor with precocious pseudopuberty

Skin:
hemangiomata (maffucci type)

Radiology:
enchondromata

Skel:
osteochondromatosis
asymmetric tubular bone abnormality

Misc:
most cases sporadic


Clinical features from OMIM:

166000

Human phenotypes related to Enchondromatosis, Multiple, Ollier Type:

56 32 (show all 22)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 anemia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001903
2 platyspondyly 56 32 occasional (7.5%) Occasional (29-5%) HP:0000926
3 hemangioma 56 32 Very frequent (99-80%) HP:0001028
4 bone pain 56 32 frequent (33%) Frequent (79-30%) HP:0002653
5 joint stiffness 56 32 frequent (33%) Frequent (79-30%) HP:0001387
6 venous thrombosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0004936
7 micromelia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002983
8 precocious puberty 56 32 occasional (7.5%) Occasional (29-5%) HP:0000826
9 osteolysis 56 32 hallmark (90%) Very frequent (99-80%) HP:0002797
10 lymphangioma 56 32 occasional (7.5%) Occasional (29-5%) HP:0100764
11 chondrosarcoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0006765
12 multiple enchondromatosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0005701
13 subcutaneous nodule 56 32 frequent (33%) Frequent (79-30%) HP:0001482
14 skin ulcer 56 32 occasional (7.5%) Occasional (29-5%) HP:0200042
15 visceral angiomatosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0100761
16 abnormality of coagulation 56 32 occasional (7.5%) Occasional (29-5%) HP:0001928
17 sarcoma 56 Occasional (29-5%)
18 neoplasm 56 Occasional (29-5%)
19 abnormality of the metaphyses 56 Very frequent (99-80%)
20 abnormality of long bone morphology 32 HP:0011314
21 abnormal cartilage morphology 56 Very frequent (99-80%)
22 abnormality of the metaphysis 32 hallmark (90%) HP:0000944

UMLS symptoms related to Enchondromatosis, Multiple, Ollier Type:


pain

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.91 EXT1 GALNT3 IHH PTH1R PTHLH PTPN11
2 growth/size/body region MP:0005378 9.91 BCO1 EXT1 GALNT3 IDH1 IHH PTH1R
3 digestive/alimentary MP:0005381 9.87 EXT1 GALNT3 IHH PTH1R PTHLH PTPN11
4 limbs/digits/tail MP:0005371 9.7 PTH1R PTHLH PTPN11 TGFB3 EXT1 GALNT3
5 respiratory system MP:0005388 9.43 PTH1R PTHLH PTPN11 TGFB3 IDH1 IHH
6 skeleton MP:0005390 9.32 ANKS1B EXT1 EXT2 GALNT3 IDH1 IHH

Drugs & Therapeutics for Enchondromatosis, Multiple, Ollier Type

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 The Health-Related Quality of Life in Patients With Hereditary Multiple Exostoses Completed NCT00474448
2 Gene Mutations and Orthopaedic Symptoms Correlation of Multiple Hereditary Exostoses: Multicentre Project Suspended NCT00474331
3 Establishing the Genetic Profile of Multiple Hereditary Exostoses (HME) in Families of BC Terminated NCT00473850

Search NIH Clinical Center for Enchondromatosis, Multiple, Ollier Type

Cochrane evidence based reviews: enchondromatosis

Genetic Tests for Enchondromatosis, Multiple, Ollier Type

Genetic tests related to Enchondromatosis, Multiple, Ollier Type:

id Genetic test Affiliating Genes
1 Enchondromatosis 29
2 Multiple Enchondromatosis 29

Anatomical Context for Enchondromatosis, Multiple, Ollier Type

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

39
Bone, Skin

Publications for Enchondromatosis, Multiple, Ollier Type

Variations for Enchondromatosis, Multiple, Ollier Type

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

7 (show all 16)
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 13370 1 1 218741 Gain Ollier disease
2 17425 1 142693888 143978071 Gain Ollier disease
3 22595 1 16758739 16878452 Gain Ollier disease
4 25854 1 194993359 195068330 Gain Ollier disease
5 31130 1 25468751 25519541 Gain Ollier disease
6 43414 10 46401243 46481060 Gain Ollier disease
7 44132 10 52420950 53725280 Copy number PRKG1 Ollier disease
8 52709 11 18905781 18918566 Gain Ollier disease
9 56208 11 5745410 5759390 Gain Ollier disease
10 73850 12 97653201 98902563 Copy number ANKS1B Ollier disease
11 178622 3 75553401 75566889 Copy number FAM86D Ollier disease
12 188827 4 69056055 69170240 Gain Ollier disease
13 221089 7 142155398 142171867 Gain Ollier disease
14 233151 8 12286694 12287223 Gain Ollier disease
15 253722 9 44889904 47006984 Gain Ollier disease
16 254416 9 65336138 70168361 Gain Ollier disease

Expression for Enchondromatosis, Multiple, Ollier Type

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

Pathways for Enchondromatosis, Multiple, Ollier Type

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

id Super pathways Score Top Affiliating Genes
1 10.94 IHH PTH1R PTHLH
2 10.39 IHH PTH1R PTHLH
3
Show member pathways
10.27 IDH1 IDH2

GO Terms for Enchondromatosis, Multiple, Ollier Type

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

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.62 EXT1 IHH PTH1R PTHLH
2 positive regulation of collagen biosynthetic process GO:0032967 9.52 IHH TGFB3
3 2-oxoglutarate metabolic process GO:0006103 9.51 IDH1 IDH2
4 heparan sulfate proteoglycan biosynthetic process GO:0015012 9.49 EXT1 EXT2
5 osteoblast development GO:0002076 9.48 PTH1R PTHLH
6 regulation of protein complex assembly GO:0043254 9.46 HSP90AA1 PTPN11
7 isocitrate metabolic process GO:0006102 9.43 IDH1 IDH2
8 embryonic skeletal joint development GO:0072498 9.4 EXT1 IHH
9 heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process GO:0015014 9.37 EXT1 EXT2
10 cellular polysaccharide biosynthetic process GO:0033692 9.26 EXT1 EXT2
11 glyoxylate cycle GO:0006097 9.16 IDH1 IDH2
12 bone resorption GO:0045453 9.13 ACP5 IHH PTH1R
13 ossification GO:0001503 8.8 EXT1 EXT2 PTH1R

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

id Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor GO:0016616 9.48 IDH1 IDH2
2 glucuronosyltransferase activity GO:0015020 9.46 EXT1 EXT2
3 acetylglucosaminyltransferase activity GO:0008375 9.43 EXT1 EXT2
4 protein tyrosine kinase binding GO:1990782 9.4 HSP90AA1 PTPN11
5 peptide hormone receptor binding GO:0051428 9.37 PTHLH PTPN11
6 heparan sulfate N-acetylglucosaminyltransferase activity GO:0042328 9.32 EXT1 EXT2
7 glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity GO:0050508 9.26 EXT1 EXT2
8 N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity GO:0050509 9.16 EXT1 EXT2
9 isocitrate dehydrogenase (NADP+) activity GO:0004450 8.96 IDH1 IDH2
10 isocitrate dehydrogenase activity GO:0004448 8.62 IDH1 IDH2

Sources for Enchondromatosis, Multiple, Ollier Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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