ENCHOM
MCID: ENC044
MIFTS: 54

Enchondromatosis, Multiple, Ollier Type (ENCHOM)

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Enchondromatosis, Multiple, Ollier Type

MalaCards integrated aliases for Enchondromatosis, Multiple, Ollier Type:

Name: Enchondromatosis, Multiple, Ollier Type 57 25 40
Ollier Disease 57 12 76 53 25 59 75 15
Enchondromatosis 53 25 59 29 44 73
Dyschondroplasia 57 12 53 25 59
Osteochondromatosis 57 12 75 73
Multiple Cartilaginous Enchondroses 53 25
Multiple Enchondromatosis 53 25
Chondromatosis 44 73
Enchondromatosis with Haemangiomata 12
Hereditary Multiple Exostoses 73
Enchondromatosis, Multiple 12
Enchondromatosis Multiple 75
Ollier's Syndrome 25
Maffucci Disease 75
Kast's Syndrome 12
Olliers Disease 55
Enchom 75

Characteristics:

Orphanet epidemiological data:

59
enchondromatosis
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood;

OMIM:

57
Inheritance:
? autosomal dominant form


Classifications:



External Ids:

OMIM 57 166000
Disease Ontology 12 DOID:4624
ICD10 33 Q78.4
NCIt 50 C3213
SNOMED-CT 68 46041001
Orphanet 59 ORPHA296
MESH via Orphanet 45 D004687
UMLS via Orphanet 74 C0014084 C0013366
ICD10 via Orphanet 34 Q78.4

Summaries for Enchondromatosis, Multiple, Ollier Type

NIH Rare Diseases : 53 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.

MalaCards based summary : Enchondromatosis, Multiple, Ollier Type, also known as ollier disease, is related to hereditary multiple exostoses and hereditary multiple osteochondromas, and has symptoms including pain An important gene associated with Enchondromatosis, Multiple, Ollier Type is PTH1R (Parathyroid Hormone 1 Receptor), and among its related pathways/superpathways are Metabolism and Endochondral Ossification. The drug Tretinoin has been mentioned in the context of this disorder. Affiliated tissues include bone, skin and lung, and related phenotypes are multiple enchondromatosis and chondrosarcoma

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.

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 : 57 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 : 75 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.

Wikipedia : 76 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 123)
# Related Disease Score Top Affiliating Genes
1 hereditary multiple exostoses 32.3 EXT2 EXT1
2 hereditary multiple osteochondromas 32.1 EXT2 EXT1
3 osteochondroma 30.9 PTHLH EXT2 EXT1
4 enchondroma 30.7 IDH2 IDH1
5 chondrosarcoma 30.3 PTHLH IDH2 IDH1 EXT2 EXT1
6 multiple enchondromatosis, maffucci type 30.3 PTH1R IHH IDH2 IDH1 EXT2 EXT1
7 intracranial chondrosarcoma 30.3 IDH2 IDH1
8 spindle cell hemangioma 30.2 IDH2 IDH1
9 villonodular synovitis 30.1 PTPN11 ACP5
10 d-2-hydroxyglutaric aciduria 1 30.0 PTH1R IDH2 IDH1 ACP5
11 periosteal chondrosarcoma 30.0 PTHLH IDH2 IDH1 EXT1
12 pigmented villonodular synovitis 29.9 PTPN11 ACP5
13 carpotarsal osteochondromatosis 12.5
14 synovial chondromatosis 12.1
15 synovial chondromatosis, familial, with dwarfism 12.1
16 metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria 12.0
17 enchondromatosis dwarfism deafness 12.0
18 upington disease 11.7
19 dysplasia epiphysealis hemimelica with chondromas and osteochondromas 11.6
20 exostoses, multiple, type i 11.2
21 childhood ovarian cancer 11.1
22 cheirospondyloenchondromatosis 11.0
23 dysspondyloenchondromatosis 10.6
24 osteochondrosis 10.5
25 interval angle-closure glaucoma 10.3 IDH2 IDH1
26 adult oligodendroglioma 10.3 IDH2 IDH1
27 tooth ankylosis 10.3 PTHLH PTH1R
28 cytogenetically normal acute myeloid leukemia 10.3 IDH2 IDH1
29 chondroblastic osteosarcoma 10.2 IDH2 IDH1
30 intraductal papilloma 10.2 IDH2 IDH1
31 dysplasia epiphysealis hemimelica 10.2 EXT2 EXT1
32 pilocytic astrocytoma of cerebellum 10.2 IDH2 IDH1
33 hypercalcemia, infantile, 1 10.2 PTHLH PTH1R
34 glioma susceptibility 1 10.2 IDH2 IDH1
35 fibrillary astrocytoma 10.2 IDH2 IDH1
36 adult astrocytic tumour 10.2 IDH2 IDH1
37 cenani-lenz syndactyly syndrome 10.2
38 chondrodysplasia, blomstrand type 10.2 PTH1R IHH
39 diffuse infiltrative lymphocytosis syndrome 10.2 IDH2 IDH1
40 juvenile type testicular granulosa cell tumor 10.2
41 undifferentiated pleomorphic sarcoma 10.2 IDH2 IDH1
42 hypercementosis 10.2 PTH1R ACP5
43 juxtacortical chondroma 10.2 PTHLH PTH1R EXT1
44 clear cell chondrosarcoma 10.2 PTHLH PTH1R EXT2
45 achondroplasia 10.2
46 drug psychosis 10.1 IDH2 IDH1
47 metaphyseal chondrodysplasia, jansen type 10.1 PTHLH PTH1R IHH
48 bone remodeling disease 10.1 EXT2 EXT1 ACP5
49 sarcoma 10.1
50 astrocytoma 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:

57
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:

59 32 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 multiple enchondromatosis 59 32 Very frequent (99-80%) HP:0005701
2 chondrosarcoma 59 32 Occasional (29-5%) HP:0006765
3 hemangioma 59 32 Very frequent (99-80%) HP:0001028
4 precocious puberty 59 Occasional (29-5%)
5 joint stiffness 59 Frequent (79-30%)
6 subcutaneous nodule 59 Frequent (79-30%)
7 anemia 59 Occasional (29-5%)
8 neoplasm 59 Occasional (29-5%)
9 abnormality of the metaphysis 59 Very frequent (99-80%)
10 platyspondyly 59 Occasional (29-5%)
11 micromelia 59 Very frequent (99-80%)
12 venous thrombosis 59 Occasional (29-5%)
13 skin ulcer 59 Occasional (29-5%)
14 visceral angiomatosis 59 Very frequent (99-80%)
15 sarcoma 59 Occasional (29-5%)
16 bone pain 59 Frequent (79-30%)
17 osteolysis 59 Very frequent (99-80%)
18 abnormality of coagulation 59 Occasional (29-5%)
19 lymphangioma 59 Occasional (29-5%)
20 abnormality of long bone morphology 32 HP:0011314
21 abnormal cartilage morphology 59 Very frequent (99-80%)

UMLS symptoms related to Enchondromatosis, Multiple, Ollier Type:


pain

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.92 EXT1 GALNT3 HSP90AA1 IHH PTH1R PTHLH
2 growth/size/body region MP:0005378 9.85 BCO1 EXT1 GALNT3 HSP90AA1 IDH1 IHH
3 digestive/alimentary MP:0005381 9.8 EXT1 GALNT3 IHH PTH1R PTHLH PTPN11
4 limbs/digits/tail MP:0005371 9.56 EXT1 GALNT3 HSP90AA1 IHH PTH1R PTHLH
5 skeleton MP:0005390 9.36 ANKS1B EXT1 EXT2 GALNT3 HSP90AA1 IDH1

Drugs & Therapeutics for Enchondromatosis, Multiple, Ollier Type

Drugs for Enchondromatosis, Multiple, Ollier Type (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4 5538 444795

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Efficacy and Safety Study of Palovarotene for the Treatment of MO Recruiting NCT03442985 Phase 2 Palovarotene 2.5 mg;Palovarotene 5.0 mg
2 NGS Strategy Effectiveness in Molecular Diagnosis Completed NCT03557567
3 The Health-Related Quality of Life in Patients With Hereditary Multiple Exostoses Completed NCT00474448
4 Gene Mutations and Orthopaedic Symptoms Correlation of Multiple Hereditary Exostoses: Multicentre Project Suspended NCT00474331
5 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 29

Anatomical Context for Enchondromatosis, Multiple, Ollier Type

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

41
Bone, Skin, Lung, Brain, Cerebellum, Myeloid

Publications for Enchondromatosis, Multiple, Ollier Type

Articles related to Enchondromatosis, Multiple, Ollier Type:

(show top 50) (show all 59)
# Title Authors Year
1
Molecular profiling of different glioma specimens from an Ollier disease patient suggests a multifocal disease process in the setting of IDH mosaicism. ( 30159860 )
2018
2
Bilateral Forearm Pseudotumors in an Adult with Hemophilia A and Ollier Disease: A Case Report. ( 30045077 )
2018
3
Ollier Disease of the Lateral Skull Base. ( 29194213 )
2018
4
Surgical Treatment of Enchondromas of the Hand During Childhood in Ollier Disease. ( 29551344 )
2018
5
The association of enchondromatosis with malignant transformed chondrosarcoma and ovarian juvenile granulosa cell tumor (Ollier disease). ( 28420520 )
2017
6
Ollier disease with anaplastic astrocytoma: A review of the literature and a unique case. ( 27656320 )
2016
7
Juvenile granulosa cell tumor associated with Ollier disease. ( 28144098 )
2016
8
Ollier Disease With Sole Chest Wall Involvement. ( 26140784 )
2015
9
Different appearance of Ollier disease: enchondromatosis of the ribs. ( 25902965 )
2015
10
Ollier disease in a 6-year-old child. ( 25899516 )
2015
11
Nonoperative Management of Multiple Hand Enchondromas in Ollier Disease With Progressive Ossification. ( 26372762 )
2015
12
Ollier Disease: Pathogenesis, Diagnosis, and Management. ( 26091223 )
2015
13
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
14
Hemorrhagic chondrosarcoma in a patient with Ollier disease: Case report and literature review. ( 27141246 )
2014
15
Enchondroma of the nasal septum due to Ollier disease: A case report and review of the literature. ( 24890303 )
2014
16
Ovarian cellular fibroma harbouring an isocitrate dehydrogenase 1 (1DH1) mutation in a patient with Ollier disease: evidence for a causal relationship. ( 23347143 )
2013
17
Ollier Disease With Digital Enchondromatosis: Anatomic and Functional Imaging. ( 24152634 )
2013
18
Clinical images: enchondromatosis (Ollier disease). ( 23918705 )
2013
19
Treatment of combined spinal deformity in patient with ollier disease and abnormal vertebrae. ( 24436859 )
2013
20
PET-positive polyostotic fibrous dysplasia mimicking Ollier disease. ( 24292588 )
2013
21
Reconstruction of Ollier disease in a severely involved hand. ( 23187718 )
2013
22
Secondary Chondrosarcoma of the Proximal Part of the Humerus Arising in a Four-Year-Old Boy with Ollier Disease: A Case Report. ( 29252287 )
2013
23
Multifocal supratentorial diffuse glioma in a young patient with Ollier disease. ( 22249016 )
2012
24
Multifocal intracranial astrocytoma in a pediatric patient with Ollier disease. ( 22623818 )
2012
25
Corticoplasty for improved appearance of hands with Ollier disease. ( 23040642 )
2012
26
Gliomatosis cerebri in a patient with Ollier disease. ( 21868231 )
2011
27
Incidence, predictive factors, and prognosis of chondrosarcoma in patients with Ollier disease and Maffucci syndrome: an international multicenter study of 161 patients. ( 22147000 )
2011
28
Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome. ( 22057234 )
2011
29
Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. ( 21533187 )
2011
30
Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2. ( 22057236 )
2011
31
Genome-wide analysis of Ollier disease: Is it all in the genes? ( 21235737 )
2011
32
Hand involvement in Ollier Disease and Maffucci Syndrome: a case series. ( 20975644 )
2010
33
A case of Ollier disease with non-small cell lung cancer and review of the literature. ( 19504096 )
2010
34
Sonographic evaluation of enchondroma with soft tissue extension in the setting of Ollier disease. ( 21098859 )
2010
35
Pediatric thalamic glioblastoma associated with Ollier disease (multiple enchondromatosis): a rare case of concurrence. ( 19795968 )
2009
36
Multiple enchondromatosis (Ollier disease). ( 19139610 )
2009
37
Ollier disease. ( 19326125 )
2009
38
First case of juvenile granulosa cell tumor in an adult with Ollier disease. ( 19696617 )
2009
39
Do intracranial neoplasms differ in Ollier disease and maffucci syndrome? An in-depth analysis of the literature. ( 19934970 )
2009
40
Cerebellar anaplastic astrocytoma in a teenager with Ollier Disease. ( 18414790 )
2008
41
Acute myelogenous leukemia associated with Ollier disease. ( 16991136 )
2008
42
PTHR1 mutations associated with Ollier disease result in receptor loss of function. ( 18559376 )
2008
43
Progressive hemianopsia caused by intracranial enchondroma in Ollier disease. ( 19064887 )
2008
44
Malformation of the humerus in a patient with Ollier disease treated with the Ilizarov technique. ( 18036843 )
2008
45
Clinics in diagnostic imaging (124). Multiple enchondromatosis in Ollier disease. ( 18946621 )
2008
46
Ollier disease. ( 16995932 )
2006
47
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
48
Ollier disease with synchronous multicentric chondrosarcomas: scintigraphic and radiologic demonstration. ( 14688600 )
2004
49
Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150C. ( 15523647 )
2004
50
Bilateral symmetrical Ollier disease and Tc-99m MDP bone scintigraphy. ( 15192478 )
2004

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
Show member pathways
13.59 AACS ACAN ACP5 BCO1 EXT1 EXT2
2 10.74 ACAN IHH PTH1R PTHLH
3 10.72 IHH PTH1R PTHLH
4
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 14)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of collagen biosynthetic process GO:0032967 9.54 IHH TGFB3
2 2-oxoglutarate metabolic process GO:0006103 9.52 IDH1 IDH2
3 osteoblast development GO:0002076 9.51 PTH1R PTHLH
4 heparan sulfate proteoglycan biosynthetic process GO:0015012 9.49 EXT1 EXT2
5 regulation of protein complex assembly GO:0043254 9.48 HSP90AA1 PTPN11
6 NADP metabolic process GO:0006739 9.46 IDH1 IDH2
7 heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process GO:0015014 9.43 EXT1 EXT2
8 embryonic skeletal joint development GO:0072498 9.4 EXT1 IHH
9 isocitrate metabolic process GO:0006102 9.37 IDH1 IDH2
10 skeletal system development GO:0001501 9.35 ACAN EXT1 IHH PTH1R PTHLH
11 bone resorption GO:0045453 9.33 ACP5 IHH PTH1R
12 cellular polysaccharide biosynthetic process GO:0033692 9.32 EXT1 EXT2
13 glyoxylate cycle GO:0006097 9.26 IDH1 IDH2
14 ossification GO:0001503 9.02 ACP5 EXT1 EXT2 IHH PTH1R

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

# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.85 EXT1 EXT2 HSP90AA1 IDH1 IDH2 PTH1R
2 glucuronosyltransferase activity GO:0015020 9.48 EXT1 EXT2
3 acetylglucosaminyltransferase activity GO:0008375 9.46 EXT1 EXT2
4 protein tyrosine kinase binding GO:1990782 9.43 HSP90AA1 PTPN11
5 peptide hormone receptor binding GO:0051428 9.4 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 isocitrate dehydrogenase (NADP+) activity GO:0004450 9.16 IDH1 IDH2
9 isocitrate dehydrogenase activity GO:0004448 8.96 IDH1 IDH2
10 N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity GO:0050509 8.62 EXT1 EXT2

Sources for Enchondromatosis, Multiple, Ollier Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....