MCID: ENC044
MIFTS: 54

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 53 24
Ollier Disease 53 12 72 49 24 55 71 14
Enchondromatosis 49 24 55 28 41 69
Dyschondroplasia 53 12 49 24 55
Osteochondromatosis 53 12 71 69
Multiple Enchondromatosis 49 24 28
Multiple Cartilaginous Enchondroses 49 24
Chondromatosis 41 69
Enchondromatosis with Haemangiomata 12
Hereditary Multiple Exostoses 69
Enchondromatosis, Multiple 12
Enchondromatosis Multiple 71
Ollier's Syndrome 24
Maffucci Disease 71
Kast's Syndrome 12
Olliers Disease 51
Enchom 71

Characteristics:

Orphanet epidemiological data:

55
enchondromatosis
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood;

OMIM:

53
Inheritance:
? autosomal dominant form


Classifications:



Summaries for Enchondromatosis, Multiple, Ollier Type

NIH Rare Diseases : 49 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 ollier disease, is related to exostoses, multiple, type i and hereditary multiple exostoses, and has symptoms including joint stiffness, bone pain and precocious puberty. 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

OMIM : 53 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)

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 : 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.

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.

Wikipedia : 72 Ollier disease is a rare nonhereditary sporadic disorder where intraosseous benign cartilaginous tumors... more...

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 61)
# Related Disease Score Top Affiliating Genes
1 exostoses, multiple, type i 33.0 EXT1 EXT2
2 hereditary multiple exostoses 32.2 EXT1 EXT2
3 hereditary multiple osteochondromas 32.1 EXT1 EXT2
4 multiple enchondromatosis, maffucci type 31.1 EXT1 EXT2 IDH1 IDH2 IHH PTH1R
5 osteochondroma 30.9 EXT1 EXT2 PTHLH
6 enchondroma 30.5 IDH1 IDH2
7 villonodular synovitis 30.1 ACP5 PTPN11
8 chondrosarcoma 29.9 EXT1 EXT2 IDH1 IDH2 PTHLH
9 periosteal chondrosarcoma 29.9 EXT1 IDH1 IDH2 PTHLH
10 exostosis 29.8 EXT1 EXT2
11 pigmented villonodular synovitis 29.8 ACP5 PTPN11
12 carpotarsal osteochondromatosis 12.3
13 synovial chondromatosis 11.8
14 upington disease 11.6
15 dysplasia epiphysealis hemimelica with chondromas and osteochondromas 11.4
16 exostoses, multiple, type ii 10.9
17 exostoses, multiple, type iii 10.9
18 interval angle-closure glaucoma 10.5 IDH1 IDH2
19 adult oligodendroglioma 10.5 IDH1 IDH2
20 intracranial chondrosarcoma 10.5 IDH1 IDH2
21 glioma susceptibility 1 10.5 IDH1 IDH2
22 tooth ankylosis 10.5 PTH1R PTHLH
23 anaplastic oligodendroglioma 10.5 IDH1 IDH2
24 clear cell chondrosarcoma 10.5 EXT2 PTH1R
25 cytogenetically normal acute myeloid leukemia 10.5 IDH1 IDH2
26 dysplasia epiphysealis hemimelica 10.5 EXT1 EXT2
27 chondroblastic osteosarcoma 10.5 IDH1 IDH2
28 intraductal papilloma 10.5 IDH1 IDH2
29 spindle cell hemangioma 10.4 IDH1 IDH2
30 hypercalcemia, infantile, 1 10.4 PTH1R PTHLH
31 adult astrocytic tumour 10.4 IDH1 IDH2
32 fibrillary astrocytoma 10.4 IDH1 IDH2
33 osteochondrosis 10.4
34 undifferentiated pleomorphic sarcoma 10.4 IDH1 IDH2
35 chondrodysplasia, blomstrand type 10.4 IHH PTH1R
36 juxtacortical chondroma 10.3 EXT1 PTH1R PTHLH
37 hypercementosis 10.3 ACP5 PTH1R
38 metaphyseal chondrodysplasia, jansen type 10.3 IHH PTH1R PTHLH
39 tooth resorption 10.2 ACP5 PTH1R
40 pyle disease 10.2 PTH1R PTHLH
41 bone remodeling disease 10.2 ACP5 EXT1 EXT2
42 aging 10.1
43 d-2-hydroxyglutaric aciduria 1 10.1 ACP5 IDH1 IDH2 PTH1R
44 peripheral osteosarcoma 10.1 HSP90AA1 IDH1 PTHLH
45 osteoarthritis 10.0
46 sarcoma 9.9
47 synovitis 9.9
48 spindle cell sarcoma 9.9
49 osteomyelitis 9.8
50 glioma 9.8

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:

53
Oncology:
chondrosarcoma
ovarian juvenile granulosa cell tumor with precocious pseudopuberty

Skel:
osteochondromatosis
asymmetric tubular bone abnormality

Radiology:
enchondromata

Misc:
most cases sporadic

Skin:
hemangiomata (maffucci type)


Clinical features from OMIM:

166000

Human phenotypes related to Enchondromatosis, Multiple, Ollier Type:

55 31 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint stiffness 55 31 frequent (33%) Frequent (79-30%) HP:0001387
2 bone pain 55 31 frequent (33%) Frequent (79-30%) HP:0002653
3 precocious puberty 55 31 occasional (7.5%) Occasional (29-5%) HP:0000826
4 subcutaneous nodule 55 31 frequent (33%) Frequent (79-30%) HP:0001482
5 anemia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001903
6 abnormality of the metaphysis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000944
7 platyspondyly 55 31 occasional (7.5%) Occasional (29-5%) HP:0000926
8 micromelia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002983
9 venous thrombosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0004936
10 skin ulcer 55 31 occasional (7.5%) Occasional (29-5%) HP:0200042
11 visceral angiomatosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0100761
12 osteolysis 55 31 hallmark (90%) Very frequent (99-80%) HP:0002797
13 multiple enchondromatosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0005701
14 chondrosarcoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0006765
15 abnormality of coagulation 55 31 occasional (7.5%) Occasional (29-5%) HP:0001928
16 lymphangioma 55 31 occasional (7.5%) Occasional (29-5%) HP:0100764
17 hemangioma 55 31 Very frequent (99-80%) HP:0001028
18 neoplasm 55 Occasional (29-5%)
19 sarcoma 55 Occasional (29-5%)
20 abnormality of long bone morphology 31 HP:0011314
21 abnormal cartilage morphology 55 Very frequent (99-80%)

UMLS symptoms related to Enchondromatosis, Multiple, Ollier Type:


pain

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

43
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.97 GALNT3 HSP90AA1 IHH PTH1R PTHLH PTPN11
2 growth/size/body region MP:0005378 9.96 BCO1 EXT1 GALNT3 HSP90AA1 IDH1 IHH
3 digestive/alimentary MP:0005381 9.87 EXT1 GALNT3 IHH PTH1R PTHLH PTPN11
4 limbs/digits/tail MP:0005371 9.76 EXT1 GALNT3 HSP90AA1 IHH PTH1R PTHLH
5 respiratory system MP:0005388 9.43 TGFB3 IDH1 IHH PTH1R PTHLH PTPN11
6 skeleton MP:0005390 9.36 ANKS1B EXT1 EXT2 GALNT3 HSP90AA1 IDH1

Drugs & Therapeutics for Enchondromatosis, Multiple, Ollier Type

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Efficacy and Safety Study of Palovarotene for the Treatment of MO Not yet recruiting NCT03442985 Phase 2 Palovarotene 2.5 mg;Palovarotene 5.0 mg
2 The Health-Related Quality of Life in Patients With Hereditary Multiple Exostoses Completed NCT00474448
3 Gene Mutations and Orthopaedic Symptoms Correlation of Multiple Hereditary Exostoses: Multicentre Project Suspended NCT00474331
4 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:

# Genetic test Affiliating Genes
1 Enchondromatosis 28
2 Multiple Enchondromatosis 28

Anatomical Context for Enchondromatosis, Multiple, Ollier Type

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

38
Bone, Skin

Publications for Enchondromatosis, Multiple, Ollier Type

Articles related to Enchondromatosis, Multiple, Ollier Type:

(show top 50) (show all 53)
# Title Authors Year
1
The association of enchondromatosis with malignant transformed chondrosarcoma and ovarian juvenile granulosa cell tumor (Ollier disease). ( 28420520 )
2017
2
Ollier disease with anaplastic astrocytoma: A review of the literature and a unique case. ( 27656320 )
2016
3
Nonoperative Management of Multiple Hand Enchondromas in Ollier Disease With Progressive Ossification. ( 26372762 )
2015
4
Ollier Disease: Pathogenesis, Diagnosis, and Management. ( 26091223 )
2015
5
Different appearance of Ollier disease: enchondromatosis of the ribs. ( 25902965 )
2015
6
Ollier Disease With Sole Chest Wall Involvement. ( 26140784 )
2015
7
Ollier disease in a 6-year-old child. ( 25899516 )
2015
8
Hemorrhagic chondrosarcoma in a patient with Ollier disease: Case report and literature review. ( 27141246 )
2014
9
Enchondroma of the nasal septum due to Ollier disease: A case report and review of the literature. ( 24890303 )
2014
10
Chondrosarcoma of the proximal humerus secondary to ollier disease: an 8-year follow-up of successful resection of the tumor with endoprosthetic replacement of the proximal humerus. ( 24734150 )
2014
11
Reconstruction of Ollier disease in a severely involved hand. ( 23187718 )
2013
12
Ovarian cellular fibroma harbouring an isocitrate dehydrogenase 1 (1DH1) mutation in a patient with Ollier disease: evidence for a causal relationship. ( 23347143 )
2013
13
PET-positive polyostotic fibrous dysplasia mimicking Ollier disease. ( 24292588 )
2013
14
Ollier Disease With Digital Enchondromatosis: Anatomic and Functional Imaging. ( 24152634 )
2013
15
Treatment of combined spinal deformity in patient with ollier disease and abnormal vertebrae. ( 24436859 )
2013
16
Clinical images: enchondromatosis (Ollier disease). ( 23918705 )
2013
17
Multifocal supratentorial diffuse glioma in a young patient with Ollier disease. ( 22249016 )
2012
18
Corticoplasty for improved appearance of hands with Ollier disease. ( 23040642 )
2012
19
Multifocal intracranial astrocytoma in a pediatric patient with Ollier disease. ( 22623818 )
2012
20
Incidence, predictive factors, and prognosis of chondrosarcoma in patients with Ollier disease and Maffucci syndrome: an international multicenter study of 161 patients. ( 22147000 )
2011
21
Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome. ( 22057234 )
2011
22
Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. ( 21533187 )
2011
23
Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2. ( 22057236 )
2011
24
Genome-wide analysis of Ollier disease: Is it all in the genes? ( 21235737 )
2011
25
Gliomatosis cerebri in a patient with Ollier disease. ( 21868231 )
2011
26
A case of Ollier disease with non-small cell lung cancer and review of the literature. ( 19504096 )
2010
27
Hand involvement in Ollier Disease and Maffucci Syndrome: a case series. ( 20975644 )
2010
28
Sonographic evaluation of enchondroma with soft tissue extension in the setting of Ollier disease. ( 21098859 )
2010
29
Multiple enchondromatosis (Ollier disease). ( 19139610 )
2009
30
Ollier disease. ( 19326125 )
2009
31
Do intracranial neoplasms differ in Ollier disease and maffucci syndrome? An in-depth analysis of the literature. ( 19934970 )
2009
32
Pediatric thalamic glioblastoma associated with Ollier disease (multiple enchondromatosis): a rare case of concurrence. ( 19795968 )
2009
33
First case of juvenile granulosa cell tumor in an adult with Ollier disease. ( 19696617 )
2009
34
Malformation of the humerus in a patient with Ollier disease treated with the Ilizarov technique. ( 18036843 )
2008
35
Clinics in diagnostic imaging (124). Multiple enchondromatosis in Ollier disease. ( 18946621 )
2008
36
Cerebellar anaplastic astrocytoma in a teenager with Ollier Disease. ( 18414790 )
2008
37
Acute myelogenous leukemia associated with Ollier disease. ( 16991136 )
2008
38
PTHR1 mutations associated with Ollier disease result in receptor loss of function. ( 18559376 )
2008
39
Progressive hemianopsia caused by intracranial enchondroma in Ollier disease. ( 19064887 )
2008
40
Ollier disease. ( 16995932 )
2006
41
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
42
Ollier disease with synchronous multicentric chondrosarcomas: scintigraphic and radiologic demonstration. ( 14688600 )
2004
43
Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150C. ( 15523647 )
2004
44
Bilateral symmetrical Ollier disease and Tc-99m MDP bone scintigraphy. ( 15192478 )
2004
45
Both Trevor and Ollier disease limited to one upper extremity. ( 11904692 )
2002
46
Deletion 1p in a low-grade chondrosarcoma in a patient with Ollier disease. ( 9723029 )
1998
47
What syndrome is this? Ollier disease + vascular lesions: Maffucci syndrome. ( 7792223 )
1995
48
Ollier disease: an interdisciplinary approach. ( 8164989 )
1994
49
Ehlers-Danlos syndrome associated with Ollier disease. ( 17586905 )
1994
50
Case report 418: Multiple enchondromatosis (Ollier disease) with severe vertebral changes. ( 3589742 )
1987

Variations for Enchondromatosis, Multiple, Ollier Type

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

7 (show all 16)
# 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:

# 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)
# 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 heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process GO:0015014 9.4 EXT1 EXT2
9 embryonic skeletal joint development GO:0072498 9.37 EXT1 IHH
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 8.92 EXT1 EXT2 IHH PTH1R

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.85 EXT1 EXT2 HSP90AA1 IDH1 PTH1R
2 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor GO:0016616 9.49 IDH1 IDH2
3 glucuronosyltransferase activity GO:0015020 9.48 EXT1 EXT2
4 acetylglucosaminyltransferase activity GO:0008375 9.43 EXT1 EXT2
5 protein tyrosine kinase binding GO:1990782 9.4 HSP90AA1 PTPN11
6 peptide hormone receptor binding GO:0051428 9.37 PTHLH PTPN11
7 heparan sulfate N-acetylglucosaminyltransferase activity GO:0042328 9.32 EXT1 EXT2
8 glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity GO:0050508 9.26 EXT1 EXT2
9 N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity GO:0050509 9.16 EXT1 EXT2
10 isocitrate dehydrogenase activity GO:0004448 8.96 IDH1 IDH2
11 isocitrate dehydrogenase (NADP+) activity GO:0004450 8.62 IDH1 IDH2

Sources for Enchondromatosis, Multiple, Ollier Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....