ENCHOM
MCID: ENC044
MIFTS: 57

Enchondromatosis, Multiple, Ollier Type (ENCHOM)

Categories: Bone diseases, Cancer 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 56 25 39
Ollier Disease 56 12 74 52 25 58 73 15
Dyschondroplasia 56 12 52 25 58
Enchondromatosis 52 25 29 43 71
Osteochondromatosis 56 12 73 71
Multiple Cartilaginous Enchondroses 52 25
Multiple Enchondromatosis 52 25
Chondromatosis 43 71
Enchondromatosis with Haemangiomata 12
Hereditary Multiple Exostoses 71
Enchondromatosis, Multiple 12
Enchondromatosis Multiple 73
Ollier's Syndrome 25
Maffucci Disease 73
Kast's Syndrome 12
Olliers Disease 54
Enchom 73

Characteristics:

Orphanet epidemiological data:

58
ollier disease
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood;

OMIM:

56
Inheritance:
? autosomal dominant form


HPO:

31
enchondromatosis, multiple, ollier type:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:4624
OMIM 56 166000
NCIt 49 C3213
SNOMED-CT 67 46041001
ICD10 32 Q78.4
MESH via Orphanet 44 D004687
ICD10 via Orphanet 33 Q78.4
UMLS via Orphanet 72 C0013366 C0014084
Orphanet 58 ORPHA296
UMLS 71 C0014084 C0015306 C0024454 more

Summaries for Enchondromatosis, Multiple, Ollier Type

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. The signs and symptoms of Ollier disease may be detectable at birth, although they generally do not become apparent until around the age of 5. Enchondromas develop near the ends of bones, where normal growth occurs, and they frequently stop forming after affected individuals stop growing in early adulthood. As a result of the bone deformities associated with Ollier disease, people with this disorder generally have short stature and underdeveloped muscles. Although the enchondromas associated with Ollier disease start out as benign, they may become cancerous (malignant). In particular, affected individuals may develop bone cancers called chondrosarcomas, especially in the skull. People with Ollier disease also have an increased risk of other cancers, such as ovarian or liver cancer. People with Ollier disease usually have a normal lifespan, and intelligence is unaffected. The extent of their physical impairment depends on their individual skeletal deformities, but in most cases they have no major limitations in their activities. A related disorder called Maffucci syndrome also involves multiple enchondromas but is distinguished by the presence of red or purplish growths in the skin consisting of tangles of abnormal blood vessels (hemangiomas).

MalaCards based summary : Enchondromatosis, Multiple, Ollier Type, also known as ollier disease, is related to hereditary multiple osteochondromas and synovial chondromatosis, 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 Presynaptic function of Kainate receptors and Parathyroid hormone synthesis, secretion and action. The drugs Tretinoin and Dermatologic Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and liver, 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.

NIH Rare Diseases : 52 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.

OMIM : 56 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 : 73 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 : 74 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 300)
# Related Disease Score Top Affiliating Genes
1 hereditary multiple osteochondromas 33.4 EXT2 EXT1
2 synovial chondromatosis 33.4 RUNX2 COL2A1
3 hereditary multiple exostoses 33.0 IHH EXT2 EXT1
4 osteochondroma 31.8 PTHLH EXT2 EXT1
5 enchondroma 31.7 IDH2 IDH1
6 multiple enchondromatosis, maffucci type 31.5 TET2 PTHLH PTH1R KDM4C IHH IDH2
7 exostosis 31.2 IHH EXT2 EXT1 ACAN
8 dysplasia epiphysealis hemimelica 31.0 EXT2 EXT1
9 2-hydroxyglutaric aciduria 31.0 KDM4C IDH2 IDH1
10 d-2-hydroxyglutaric aciduria 1 31.0 KDM4C IDH2 IDH1
11 achondroplasia 31.0 PTH1R COL2A1 ACAN
12 osteochondrosis 30.9 IHH COL2A1 ACAN
13 intracranial chondrosarcoma 30.9 IDH2 IDH1
14 chondrosarcoma 30.8 RUNX2 PTHLH IDH2 IDH1 EXT2 EXT1
15 cartilage disease 30.8 RUNX2 IHH COL2A1 ACAN
16 grade iii astrocytoma 30.8 KDM4C IDH2 IDH1
17 synovitis 30.8 COL2A1 ACP5 ACAN
18 undifferentiated pleomorphic sarcoma 30.8 IDH2 IDH1
19 fibrillary astrocytoma 30.7 KDM4C IDH2 IDH1
20 brain stem glioma 30.7 KDM4C IDH2 IDH1
21 pseudohypoparathyroidism 30.7 PTHLH PTH1R PTH
22 skeletal dysplasias 30.7 PTH1R COL2A1
23 osteogenic sarcoma 30.6 RUNX2 PTHLH PTH1R PTH
24 osteonecrosis 30.6 RUNX2 PTH COL2A1 ACP5
25 juxtacortical chondroma 30.4 KDM4C IDH2 IDH1 EXT2 EXT1
26 periosteal chondrosarcoma 30.2 YEATS2 IDH2 IDH1 GPR108 EXT1
27 bone resorption disease 30.1 RUNX2 PTHLH PTH1R PTH ACP5
28 pyle disease 30.1 RUNX2 PTHLH PTH1R PTH COL2A1
29 osteoporosis 30.0 RUNX2 PTHLH PTH1R PTH COL2A1 ACP5
30 brachydactyly 29.9 RUNX2 PTHLH PTH IHH COL2A1 ACAN
31 scoliosis 29.9 RUNX2 EXT2 COL2A1 ACP5 ACAN
32 bone disease 29.9 RUNX2 PTHLH PTH1R PTH EXT2 EXT1
33 odontochondrodysplasia 29.8 RUNX2 PTHLH PTH1R PTH IHH COL2A1
34 myeloma, multiple 29.7 RUNX2 PTHLH PTH KDM4C IDH2 IDH1
35 synovial chondromatosis, familial, with dwarfism 12.4
36 dysplasia epiphysealis hemimelica with chondromas and osteochondromas 12.2
37 enchondromatosis dwarfism deafness 12.2
38 exostoses, multiple, type i 11.7
39 upington disease 11.6
40 cheirospondyloenchondromatosis 11.5
41 dysspondyloenchondromatosis 10.8
42 genochondromatosis 10.7
43 breast duct papilloma 10.6 IDH2 IDH1
44 cytogenetically normal acute myeloid leukemia 10.6 IDH2 IDH1
45 adult brain stem glioma 10.6 IDH2 IDH1
46 central nervous system rhabdomyosarcoma 10.6 IDH2 IDH1
47 pediatric ovarian germ cell tumor 10.6 PTHLH PTH
48 malignant ovarian brenner tumor 10.6 PTHLH PTH
49 breast hemangioma 10.6 IDH2 IDH1
50 juxtacortical chondrosarcoma 10.6 EXT2 ACAN

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:

58 31 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000944
2 micromelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002983
3 osteolysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002797
4 visceral angiomatosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100761
5 multiple enchondromatosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0005701
6 joint stiffness 58 31 frequent (33%) Frequent (79-30%) HP:0001387
7 subcutaneous nodule 58 31 frequent (33%) Frequent (79-30%) HP:0001482
8 bone pain 58 31 frequent (33%) Frequent (79-30%) HP:0002653
9 precocious puberty 58 31 occasional (7.5%) Occasional (29-5%) HP:0000826
10 anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001903
11 skin ulcer 58 31 occasional (7.5%) Occasional (29-5%) HP:0200042
12 platyspondyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000926
13 venous thrombosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004936
14 chondrosarcoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0006765
15 abnormality of coagulation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001928
16 lymphangioma 58 31 occasional (7.5%) Occasional (29-5%) HP:0100764
17 hemangioma 58 31 Very frequent (99-80%) HP:0001028
18 neoplasm 58 Occasional (29-5%)
19 sarcoma 58 Occasional (29-5%)
20 abnormality of long bone morphology 31 HP:0011314
21 abnormal cartilage morphology 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

56
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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased human papilloma virus 16 (HPV16) pseudovirus infection GR00306-A 9.1 EXT1 EXT2 GPR108 IHH PTHLH YEATS2

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.15 BCO1 COL2A1 EXT1 IDH1 IHH KDM4C
2 mortality/aging MP:0010768 10.1 CEP57 COL2A1 EXT1 EXT2 GPR108 IDH1
3 craniofacial MP:0005382 10.03 COL2A1 EXT1 IHH PTH PTH1R PTHLH
4 limbs/digits/tail MP:0005371 9.97 CEP57 COL2A1 EXT1 IDH2 IHH PTH
5 digestive/alimentary MP:0005381 9.95 COL2A1 EXT1 IHH PTH1R PTHLH RCN3
6 neoplasm MP:0002006 9.7 CEP57 EXT1 IDH2 KDM4C PTH1R PTHLH
7 respiratory system MP:0005388 9.56 CEP57 COL2A1 IDH1 IHH PTH1R PTHLH
8 skeleton MP:0005390 9.36 CEP57 COL2A1 EXT1 EXT2 IDH1 IDH2

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
2 Dermatologic Agents Phase 2
3 Keratolytic Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase 2, Randomized, Double-Blind, Placebo-Controlled Efficacy and Safety Study of Palovarotene in Subjects With Multiple Osteochondromas Active, not 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 NGS Strategy Effectiveness in Molecular Diagnosis Completed NCT03557567
4 Registry of Ollier Disease and Maffucci Syndrome That Collects Clinical, Functional, Genetic, Genealogical, Imaging, Surgical, Quality of Life Data. Data Are Linked to Patients Biological Sample Enrolling by invitation NCT04134572
5 Registry of Multiple Osteochondromas That Collects Clinical, Functional, Genetic, Genealogical, Imaging, Surgical, Quality of Life Data. Data Are Linked to Patients Biological Sample Enrolling by invitation NCT04133285
6 Genotype-Phenotype Correlation of Multiple Hereditary Exostoses: Multicentre Project Suspended NCT00474331
7 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:

40
Bone, Skin, Liver, Lung, Brain, Breast, Pituitary

Publications for Enchondromatosis, Multiple, Ollier Type

Articles related to Enchondromatosis, Multiple, Ollier Type:

(show top 50) (show all 132)
# Title Authors PMID Year
1
PTHR1 mutations associated with Ollier disease result in receptor loss of function. 54 61 56
18559376 2008
2
Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150C. 54 61 56
15523647 2004
3
Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome. 61 56
22057234 2011
4
Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2. 61 56
22057236 2011
5
Enchondromatosis: insights on the different subtypes. 61 56
20661403 2010
6
A mutant PTH/PTHrP type I receptor in enchondromatosis. 54 56
11850620 2002
7
The malignant potential of enchondromatosis. 61 56
3805090 1987
8
Ollier disease (enchondromatosis) associated with ovarian juvenile granulosa cell tumor and precocious pseudopuberty. 61 56
3712163 1986
9
Fibromuscular dysplasia of intracranial arteries in a patient with multiple enchondromas (Ollier disease). 61 56
563016 1977
10
Ollier Disease: Pathogenesis, Diagnosis, and Management. 61 52
26091223 2015
11
Generalized enchondromatosis in a boy with only platyspondyly in the father. 56
2063903 1991
12
Chondrosarcoma in Maffucci's syndrome. 56
4055846 1985
13
Enchondromatosis (Ollier's disease) and ovarian juvenile granulosa cell tumor. 56
6365306 1984
14
Two peculiar types of enchondromatosis. 56
733398 1978
15
[A further case of congenital generalized dyschondrotheosis, Ollier type]. 56
13876464 1962
16
[Heredity of osteochondromas]. 56
13630311 1959
17
[Three cases of Ollier's disease in one family]. 56
13150185 1954
18
Ollier disease: the first report in Syria. 61
32038882 2020
19
Differential Diagnosis of Cartilaginous Lesions of Bone. 61
31877083 2020
20
IDH1 immunohistochemistry reactivity and mosaic IDH1 or IDH2 somatic mutations in pediatric sporadic enchondroma and enchondromatosis. 61
31240473 2019
21
Skull Base Enchondroma and Chondrosarcoma in Ollier Disease and Maffucci Syndrome. 61
31233929 2019
22
Skull Base Chondrosarcoma Caused by Ollier Disease: A Case Report and Literature Review. 61
30872199 2019
23
Genetic Causes of Rare Pediatric Ovarian Tumors. 61
31409083 2019
24
Somatic Mosaicism of IDH1 R132H Predisposes to Anaplastic Astrocytoma: A Case of Two Siblings. 61
32010615 2019
25
Maffucci syndrome complicated by three different central nervous system tumors sharing an IDH1 R132C mutation: case report. 61
30579273 2018
26
Molecular profiling of different glioma specimens from an Ollier disease patient suggests a multifocal disease process in the setting of IDH mosaicism. 61
30159860 2018
27
Surgical Treatment of Enchondromas of the Hand During Childhood in Ollier Disease. 61
29551344 2018
28
Bilateral Forearm Pseudotumors in an Adult with Hemophilia A and Ollier Disease: A Case Report. 61
30045077 2018
29
The role of metabolic enzymes in mesenchymal tumors and tumor syndromes: genetics, pathology, and molecular mechanisms. 61
29339836 2018
30
Chondrosarcomas of the phalanges of the hand. 61
29526157 2018
31
Ollier disease: two case reports and a review of the literature. 61
30662632 2018
32
Ollier Disease of the Lateral Skull Base. 61
29194213 2018
33
Different appearance of Ollier disease: enchondromatosis of the ribs. 61
25902965 2017
34
[Multiple enchondromatosis, Ollier disease]. 61
27288070 2017
35
Trochanteric Entry for Femoral Lengthening Nails in Children: Is It Safe? 61
28481811 2017
36
The association of enchondromatosis with malignant transformed chondrosarcoma and ovarian juvenile granulosa cell tumor (Ollier disease). 61
28420520 2017
37
Genetics and genomics of ovarian sex cord-stromal tumors. 61
27813081 2017
38
PRECICE® magnetically-driven, telescopic, intramedullary lengthening nail: pre-clinical testing and first 30 patients. 61
29785927 2017
39
Juvenile granulosa cell tumor associated with Ollier disease. 61
28144098 2016
40
Gynecologic Manifestations of Less Commonly Encountered Hereditary Syndromes. 61
27241108 2016
41
Characteristics of gliomas in patients with somatic IDH mosaicism. 61
27036230 2016
42
Fibrous Dysplasia with Massive Cartilaginous Differentiation (Fibrocartilaginous Dysplasia) in the Proximal Femur: A Case Report and Review of the Literature. 61
27293399 2016
43
Ollier disease with anaplastic astrocytoma: A review of the literature and a unique case. 61
27656320 2016
44
Nonoperative Management of Multiple Hand Enchondromas in Ollier Disease With Progressive Ossification. 61
26372762 2015
45
Ollier Disease With Sole Chest Wall Involvement. 61
26140784 2015
46
Ollier disease in a 6-year-old child. 61
25899516 2015
47
Enchondroma of the nasal septum due to Ollier disease: a case report and review of the literature. 61
24890303 2015
48
Digitial endochondroma. 61
25756487 2014
49
Common somatic alterations identified in maffucci syndrome by molecular karyotyping. 61
25565925 2014
50
[Benign cartilage tumors. What should I do with incidental findings?]. 61
25274388 2014

Variations for Enchondromatosis, Multiple, Ollier Type

Cosmic variations for Enchondromatosis, Multiple, Ollier Type:

9 (show all 21)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM131096137 TSHR bone,skull,chondrosarcoma,NS c.1210G>T p.E404* 14:81143268-81143268 15
2 COSM97086777 PTPRT bone,skull,chondrosarcoma,NS c.878C>T p.A293V 20:42678141-42678141 15
3 COSM86885224 IRS1 bone,skull,chondrosarcoma,NS c.730G>T p.V244L 2:226798009-226798009 15
4 COSM103033796 IDH1 bone,rib,chondrosarcoma,NS c.394C>T p.R132C 2:208248389-208248389 15
5 COSM103034000 IDH1 bone,skull,chondrosarcoma,NS c.395G>T p.R132L 2:208248388-208248388 15
6 COSM103033757 IDH1 bone,skull,chondrosarcoma,NS c.395G>A p.R132H 2:208248388-208248388 15
7 COSM84952478 FOXA1 bone,skull,chondrosarcoma,NS c.1213C>A p.L405I 14:37591571-37591571 15
8 COSM90465396 bone,rib,chondrosarcoma,NS c.394C>T p.R132C 2:208248389-208248389 15
9 COSM112752272 bone,skull,chondrosarcoma,NS c.394C>T p.R132C 2:208248389-208248389 15
10 COSM112752230 bone,skull,chondrosarcoma,NS c.395G>A p.R132H 2:208248388-208248388 15
11 COSM90465359 bone,skull,chondrosarcoma,NS c.395G>A p.R132H 2:208248388-208248388 15
12 COSM97185682 bone,skull,chondrosarcoma,NS c.878C>T p.A293V 20:42678141-42678141 15
13 COSM96860001 bone,skull,chondrosarcoma,NS c.878C>T p.A293V 20:42678141-42678141 15
14 COSM96641930 bone,skull,chondrosarcoma,NS c.878C>T p.A293V 20:42678141-42678141 15
15 COSM143686194 bone,skull,chondrosarcoma,NS c.665C>T p.A222V 20:42678141-42678141 15
16 COSM85480033 bone,skull,chondrosarcoma,NS c.1210G>T p.E404* 14:81143268-81143268 15
17 COSM96745153 bone,skull,chondrosarcoma,NS c.878C>T p.A293V 20:42678141-42678141 15
18 COSM96973805 bone,skull,chondrosarcoma,NS c.878C>T p.A293V 20:42678141-42678141 15
19 COSM90465675 bone,skull,chondrosarcoma,NS c.395G>T p.R132L 2:208248388-208248388 15
20 COSM93299070 bone,skull,chondrosarcoma,NS c.878C>T p.A293V 20:42678141-42678141 15
21 COSM112752563 bone,skull,chondrosarcoma,NS c.395G>T p.R132L 2:208248388-208248388 15

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

7 (show all 16)
# CNVD ID Chromosome 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

GO Terms for Enchondromatosis, Multiple, Ollier Type

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.97 RUNX2 PTHLH PTH1R KDM4C IHH
2 response to organic cyclic compound GO:0014070 9.79 TET2 IDH1 AACS
3 adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0007189 9.75 PTHLH PTH1R PTH
4 regulation of gene expression GO:0010468 9.73 RUNX2 PTHLH PTH KDM4C IHH COL2A1
5 chondrocyte differentiation GO:0002062 9.65 RUNX2 PTH1R COL2A1
6 cell maturation GO:0048469 9.63 RUNX2 PTH1R IHH
7 negative regulation of chondrocyte differentiation GO:0032331 9.61 PTHLH PTH
8 chondrocyte development GO:0002063 9.61 RUNX2 ACAN
9 cartilage condensation GO:0001502 9.6 COL2A1 ACAN
10 heparan sulfate proteoglycan biosynthetic process GO:0015012 9.59 EXT2 EXT1
11 2-oxoglutarate metabolic process GO:0006103 9.58 IDH2 IDH1
12 NADP metabolic process GO:0006739 9.56 IDH2 IDH1
13 positive regulation of inositol phosphate biosynthetic process GO:0060732 9.55 PTH1R PTH
14 heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process GO:0015014 9.54 EXT2 EXT1
15 proteoglycan metabolic process GO:0006029 9.52 IHH COL2A1
16 isocitrate metabolic process GO:0006102 9.51 IDH2 IDH1
17 osteoblast development GO:0002076 9.5 RUNX2 PTHLH PTH1R
18 ossification GO:0001503 9.5 RUNX2 PTH1R IHH EXT2 EXT1 COL2A1
19 embryonic skeletal joint development GO:0072498 9.49 IHH EXT1
20 bone resorption GO:0045453 9.46 PTH1R PTH IHH ACP5
21 cAMP metabolic process GO:0046058 9.43 PTHLH PTH
22 cellular polysaccharide biosynthetic process GO:0033692 9.4 EXT2 EXT1
23 glyoxylate cycle GO:0006097 9.37 IDH2 IDH1
24 skeletal system development GO:0001501 9.23 RUNX2 PTHLH PTH1R PTH IHH EXT1

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

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 10.1 TET2 RCN3 KDM4C IHH IDH2 IDH1
2 oxidoreductase activity GO:0016491 9.85 TET2 KDM4C IDH2 IDH1 BCO1
3 dioxygenase activity GO:0051213 9.61 TET2 KDM4C BCO1
4 peptide hormone receptor binding GO:0051428 9.4 PTHLH PTH
5 heparan sulfate N-acetylglucosaminyltransferase activity GO:0042328 9.37 EXT2 EXT1
6 glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity GO:0050508 9.26 EXT2 EXT1
7 N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity GO:0050509 9.16 EXT2 EXT1
8 isocitrate dehydrogenase (NADP+) activity GO:0004450 8.96 IDH2 IDH1
9 isocitrate dehydrogenase activity GO:0004448 8.62 IDH2 IDH1

Sources for Enchondromatosis, Multiple, Ollier Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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