ENCHOM
MCID: ENC044
MIFTS: 53

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 58 26 41
Ollier Disease 58 12 77 54 26 60 76 15
Dyschondroplasia 58 12 54 26 60
Enchondromatosis 54 26 30 45 74
Osteochondromatosis 58 12 76 74
Multiple Cartilaginous Enchondroses 54 26
Multiple Enchondromatosis 54 26
Chondromatosis 45 74
Enchondromatosis with Haemangiomata 12
Hereditary Multiple Exostoses 74
Enchondromatosis, Multiple 12
Enchondromatosis Multiple 76
Ollier's Syndrome 26
Maffucci Disease 76
Kast's Syndrome 12
Olliers Disease 56
Enchom 76

Characteristics:

Orphanet epidemiological data:

60
ollier disease
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood;

OMIM:

58
Inheritance:
? autosomal dominant form


Classifications:



Summaries for Enchondromatosis, Multiple, Ollier Type

NIH Rare Diseases : 54 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 and skin, and related phenotypes are abnormality of the metaphysis and micromelia

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 : 26 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 : 58 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 : 76 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 : 77 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 140)
# Related Disease Score Top Affiliating Genes
1 hereditary multiple exostoses 32.5 EXT2 EXT1
2 hereditary multiple osteochondromas 32.3 EXT2 EXT1
3 osteochondroma 31.0 PTHLH EXT2 EXT1
4 enchondroma 31.0 IDH2 IDH1
5 intracranial chondrosarcoma 30.5 IDH2 IDH1
6 spindle cell hemangioma 30.5 IDH2 IDH1
7 chondrosarcoma 30.4 PTHLH IDH2 IDH1 EXT2 EXT1
8 multiple enchondromatosis, maffucci type 30.3 PTH1R IHH IDH2 IDH1 EXT2 EXT1
9 periosteal chondrosarcoma 30.0 PTHLH IDH2 IDH1 EXT1
10 d-2-hydroxyglutaric aciduria 1 29.9 PTH1R IDH2 IDH1 ACP5
11 carpotarsal osteochondromatosis 12.5
12 synovial chondromatosis, familial, with dwarfism 12.1
13 metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria 12.1
14 enchondromatosis dwarfism deafness 12.1
15 upington disease 11.7
16 synovial chondromatosis 11.7
17 dysplasia epiphysealis hemimelica with chondromas and osteochondromas 11.6
18 exostoses, multiple, type i 11.2
19 childhood ovarian cancer 11.1
20 cheirospondyloenchondromatosis 11.1
21 dysspondyloenchondromatosis 10.6
22 interval angle-closure glaucoma 10.4 IDH2 IDH1
23 adult oligodendroglioma 10.4 IDH2 IDH1
24 tooth ankylosis 10.4 PTHLH PTH1R
25 cytogenetically normal acute myeloid leukemia 10.4 IDH2 IDH1
26 chondroblastic osteosarcoma 10.4 IDH2 IDH1
27 dysplasia epiphysealis hemimelica 10.4 EXT2 EXT1
28 intraductal papilloma 10.4 IDH2 IDH1
29 pilocytic astrocytoma of cerebellum 10.4 IDH2 IDH1
30 hypercalcemia, infantile, 1 10.4 PTHLH PTH1R
31 glioma susceptibility 1 10.3 IDH2 IDH1
32 fibrillary astrocytoma 10.3 IDH2 IDH1
33 adult astrocytic tumour 10.3 IDH2 IDH1
34 chondrodysplasia, blomstrand type 10.3 PTH1R IHH
35 rickets 10.3
36 diffuse infiltrative lymphocytosis syndrome 10.3 IDH2 IDH1
37 juxtacortical chondroma 10.3 PTHLH PTH1R EXT1
38 clear cell chondrosarcoma 10.3 PTHLH PTH1R EXT2
39 undifferentiated pleomorphic sarcoma 10.3 IDH2 IDH1
40 drug psychosis 10.2 IDH2 IDH1
41 juvenile type testicular granulosa cell tumor 10.2
42 cenani-lenz syndactyly syndrome 10.2
43 metaphyseal chondrodysplasia, jansen type 10.2 PTHLH PTH1R IHH
44 astrocytoma 10.2
45 achondroplasia 10.2
46 sarcoma 10.2
47 drug-induced mental disorder 10.1 IDH2 IDH1
48 hypercementosis 10.1 PTH1R ACP5
49 radiculopathy 10.1
50 hypoxia 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

Human phenotypes related to Enchondromatosis, Multiple, Ollier Type:

60 33 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the metaphysis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000944
2 micromelia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002983
3 visceral angiomatosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0100761
4 osteolysis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002797
5 multiple enchondromatosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0005701
6 joint stiffness 60 33 frequent (33%) Frequent (79-30%) HP:0001387
7 subcutaneous nodule 60 33 frequent (33%) Frequent (79-30%) HP:0001482
8 bone pain 60 33 frequent (33%) Frequent (79-30%) HP:0002653
9 precocious puberty 60 33 occasional (7.5%) Occasional (29-5%) HP:0000826
10 anemia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001903
11 platyspondyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000926
12 venous thrombosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0004936
13 skin ulcer 60 33 occasional (7.5%) Occasional (29-5%) HP:0200042
14 chondrosarcoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0006765
15 abnormality of coagulation 60 33 occasional (7.5%) Occasional (29-5%) HP:0001928
16 lymphangioma 60 33 occasional (7.5%) Occasional (29-5%) HP:0100764
17 hemangioma 60 33 Very frequent (99-80%) HP:0001028
18 neoplasm 60 Occasional (29-5%)
19 sarcoma 60 Occasional (29-5%)
20 abnormality of long bone morphology 33 HP:0011314
21 abnormal cartilage morphology 60 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

58
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

UMLS symptoms related to Enchondromatosis, Multiple, Ollier Type:


pain

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.63 EXT1 HSP90AA1 IHH PTH1R PTHLH TGFB3
2 limbs/digits/tail MP:0005371 9.35 EXT1 IHH PTH1R PTHLH TGFB3
3 skeleton MP:0005390 9.23 ANKS1B EXT1 EXT2 IDH1 IHH PTH1R

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 30

Anatomical Context for Enchondromatosis, Multiple, Ollier Type

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

42
Bone, Skin

Publications for Enchondromatosis, Multiple, Ollier Type

Articles related to Enchondromatosis, Multiple, Ollier Type:

(show top 50) (show all 61)
# Title Authors Year
1
Skull Base Chondrosarcoma Caused by Ollier Disease: A Case Report and Literature Review. ( 30872199 )
2019
2
Molecular profiling of different glioma specimens from an Ollier disease patient suggests a multifocal disease process in the setting of IDH mosaicism. ( 30159860 )
2018
3
Bilateral Forearm Pseudotumors in an Adult with Hemophilia A and Ollier Disease: A Case Report. ( 30045077 )
2018
4
Ollier Disease of the Lateral Skull Base. ( 29194213 )
2018
5
Surgical Treatment of Enchondromas of the Hand During Childhood in Ollier Disease. ( 29551344 )
2018
6
Ollier disease: two case reports and a review of the literature. ( 30662632 )
2018
7
The association of enchondromatosis with malignant transformed chondrosarcoma and ovarian juvenile granulosa cell tumor (Ollier disease). ( 28420520 )
2017
8
Ollier disease with anaplastic astrocytoma: A review of the literature and a unique case. ( 27656320 )
2016
9
Juvenile granulosa cell tumor associated with Ollier disease. ( 28144098 )
2016
10
Ollier Disease With Sole Chest Wall Involvement. ( 26140784 )
2015
11
Different appearance of Ollier disease: enchondromatosis of the ribs. ( 25902965 )
2015
12
Ollier disease in a 6-year-old child. ( 25899516 )
2015
13
Nonoperative Management of Multiple Hand Enchondromas in Ollier Disease With Progressive Ossification. ( 26372762 )
2015
14
Ollier Disease: Pathogenesis, Diagnosis, and Management. ( 26091223 )
2015
15
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
16
Hemorrhagic chondrosarcoma in a patient with Ollier disease: Case report and literature review. ( 27141246 )
2014
17
Enchondroma of the nasal septum due to Ollier disease: A case report and review of the literature. ( 24890303 )
2014
18
Ovarian cellular fibroma harbouring an isocitrate dehydrogenase 1 (1DH1) mutation in a patient with Ollier disease: evidence for a causal relationship. ( 23347143 )
2013
19
Ollier Disease With Digital Enchondromatosis: Anatomic and Functional Imaging. ( 24152634 )
2013
20
Clinical images: enchondromatosis (Ollier disease). ( 23918705 )
2013
21
Treatment of combined spinal deformity in patient with ollier disease and abnormal vertebrae. ( 24436859 )
2013
22
PET-positive polyostotic fibrous dysplasia mimicking Ollier disease. ( 24292588 )
2013
23
Reconstruction of Ollier disease in a severely involved hand. ( 23187718 )
2013
24
Secondary Chondrosarcoma of the Proximal Part of the Humerus Arising in a Four-Year-Old Boy with Ollier Disease: A Case Report. ( 29252287 )
2013
25
Multifocal supratentorial diffuse glioma in a young patient with Ollier disease. ( 22249016 )
2012
26
Multifocal intracranial astrocytoma in a pediatric patient with Ollier disease. ( 22623818 )
2012
27
Corticoplasty for improved appearance of hands with Ollier disease. ( 23040642 )
2012
28
Gliomatosis cerebri in a patient with Ollier disease. ( 21868231 )
2011
29
Incidence, predictive factors, and prognosis of chondrosarcoma in patients with Ollier disease and Maffucci syndrome: an international multicenter study of 161 patients. ( 22147000 )
2011
30
Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome. ( 22057234 )
2011
31
Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. ( 21533187 )
2011
32
Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2. ( 22057236 )
2011
33
Genome-wide analysis of Ollier disease: Is it all in the genes? ( 21235737 )
2011
34
Hand involvement in Ollier Disease and Maffucci Syndrome: a case series. ( 20975644 )
2010
35
A case of Ollier disease with non-small cell lung cancer and review of the literature. ( 19504096 )
2010
36
Sonographic evaluation of enchondroma with soft tissue extension in the setting of Ollier disease. ( 21098859 )
2010
37
Pediatric thalamic glioblastoma associated with Ollier disease (multiple enchondromatosis): a rare case of concurrence. ( 19795968 )
2009
38
Multiple enchondromatosis (Ollier disease). ( 19139610 )
2009
39
Ollier disease. ( 19326125 )
2009
40
First case of juvenile granulosa cell tumor in an adult with Ollier disease. ( 19696617 )
2009
41
Do intracranial neoplasms differ in Ollier disease and maffucci syndrome? An in-depth analysis of the literature. ( 19934970 )
2009
42
Cerebellar anaplastic astrocytoma in a teenager with Ollier Disease. ( 18414790 )
2008
43
Acute myelogenous leukemia associated with Ollier disease. ( 16991136 )
2008
44
PTHR1 mutations associated with Ollier disease result in receptor loss of function. ( 18559376 )
2008
45
Progressive hemianopsia caused by intracranial enchondroma in Ollier disease. ( 19064887 )
2008
46
Malformation of the humerus in a patient with Ollier disease treated with the Ilizarov technique. ( 18036843 )
2008
47
Clinics in diagnostic imaging (124). Multiple enchondromatosis in Ollier disease. ( 18946621 )
2008
48
Ollier disease. ( 16995932 )
2006
49
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
50
Ollier disease with synchronous multicentric chondrosarcomas: scintigraphic and radiologic demonstration. ( 14688600 )
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 13)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of collagen biosynthetic process GO:0032967 9.52 IHH TGFB3
2 2-oxoglutarate metabolic process GO:0006103 9.51 IDH1 IDH2
3 osteoblast development GO:0002076 9.49 PTH1R PTHLH
4 heparan sulfate proteoglycan biosynthetic process GO:0015012 9.48 EXT1 EXT2
5 NADP metabolic process GO:0006739 9.46 IDH1 IDH2
6 heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process GO:0015014 9.43 EXT1 EXT2
7 embryonic skeletal joint development GO:0072498 9.4 EXT1 IHH
8 isocitrate metabolic process GO:0006102 9.37 IDH1 IDH2
9 skeletal system development GO:0001501 9.35 ACAN EXT1 IHH PTH1R PTHLH
10 bone resorption GO:0045453 9.33 ACP5 IHH PTH1R
11 cellular polysaccharide biosynthetic process GO:0033692 9.32 EXT1 EXT2
12 glyoxylate cycle GO:0006097 9.26 IDH1 IDH2
13 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 9.43 EXT1 EXT2
3 acetylglucosaminyltransferase activity GO:0008375 9.4 EXT1 EXT2
4 heparan sulfate N-acetylglucosaminyltransferase activity GO:0042328 9.32 EXT1 EXT2
5 glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity GO:0050508 9.26 EXT1 EXT2
6 isocitrate dehydrogenase (NADP+) activity GO:0004450 9.16 IDH1 IDH2
7 isocitrate dehydrogenase activity GO:0004448 8.96 IDH1 IDH2
8 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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