ENCHOM
MCID: ENC044
MIFTS: 61

Enchondromatosis, Multiple, Ollier Type (ENCHOM)

Categories: Bone diseases, Cancer diseases, Fetal diseases, Rare diseases, Skin diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Enchondromatosis, Multiple, Ollier Type

MalaCards integrated aliases for Enchondromatosis, Multiple, Ollier Type:

Name: Enchondromatosis, Multiple, Ollier Type 57 42 38
Enchondromatosis 19 42 75 28 5 43 71 31
Ollier Disease 57 11 19 42 58 75 73 14
Dyschondroplasia 57 11 19 42 58
Osteochondromatosis 57 11 73 71
Multiple Cartilaginous Enchondroses 19 42
Multiple Enchondromatosis 19 42
Enchondromatosis with Haemangiomata 11
Hereditary Multiple Exostoses 71
Enchondromatosis, Multiple 11
Enchondromatosis Multiple 73
Ollier's Syndrome 42
Maffucci Disease 73
Kast's Syndrome 11
Olliers Disease 53
Chondromatosis 71
Enchom 73

Characteristics:


Inheritance:

? Autosomal dominant form 57

Prevelance:

Ollier Disease: 1-9/100000 (Europe) 58

Age Of Onset:

Ollier Disease: Adolescent,Adult,Childhood 58

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:4624
OMIM® 57 166000
NCIt 49 C3213
SNOMED-CT 68 46041001
ICD10 31 Q78.4
MESH via Orphanet 44 D004687
ICD10 via Orphanet 32 Q78.4
UMLS via Orphanet 72 C0013366 C0014084
Orphanet 58 ORPHA296
UMLS 71 C0014084 C0015306 C0024454 more

Summaries for Enchondromatosis, Multiple, Ollier Type

MedlinePlus Genetics: 42 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 cancer 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 enchondromatosis, is related to exostoses, multiple, type i and hereditary multiple osteochondromas, and has symptoms including pain An important gene associated with Enchondromatosis, Multiple, Ollier Type is IDH1 (Isocitrate Dehydrogenase (NADP(+)) 1), and among its related pathways/superpathways are Signal Transduction and Presynaptic function of Kainate receptors. The drug Isotretinoin has been mentioned in the context of this disorder. Affiliated tissues include bone, skin and liver, and related phenotypes are micromelia and visceral angiomatosis

GARD: 19 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 genetic changes in the IDH1 or IDH2 gene. The disease is not typically inherited.

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) (Updated 08-Dec-2022)

Disease Ontology: 11 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.

UniProtKB/Swiss-Prot: 73 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.

Orphanet: 58 A rare primary bone dysplasia disorder characterized by the development of multiple mainly unilateral or asymmetrically distributed enchondromas throughout the metaphyses of the long bones.

Wikipedia 75 Enchondromatosis: Enchondromatosis is a form of osteochondrodysplasia characterized by a proliferation of... more...

Ollier disease: Ollier disease is a rare sporadic nonhereditary skeletal disorder in which typically benign... 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 378)
# Related Disease Score Top Affiliating Genes
1 exostoses, multiple, type i 32.7 EXT2 EXT1
2 hereditary multiple osteochondromas 32.5 EXT2 EXT1
3 hereditary multiple exostoses 32.1 IHH EXT2 EXT1
4 osteochondroma 31.4 PTHLH EXT2 EXT1
5 enchondroma 31.4 IDH2 IDH1
6 multiple enchondromatosis, maffucci type 31.3 PTPN11 PTHLH PTH1R KDM4C IHH IDH2
7 glioma susceptibility 1 31.0 IDH2 IDH1 CCDC26
8 cartilage disease 31.0 RUNX2 IHH COL2A1 BMP2 ACAN
9 osteoarthritis 30.8 RUNX2 COL2A1 BMP2 ACAN
10 spindle cell hemangioma 30.7 PTH1R IDH2 IDH1
11 arthropathy 30.7 COL2A1 BMP2 ACAN
12 chondrosarcoma 30.7 RUNX2 PTHLH IDH2 IDH1 EXT2 EXT1
13 synovitis 30.7 COL2A1 ACP5 ACAN
14 exostosis 30.5 RUNX2 PTHLH IHH EXT2 EXT1 COL2A1
15 anaplastic astrocytoma 30.5 KDM4C IDH2 IDH1 ATRX
16 chondroma 30.5 IDH2 IDH1 EXT2
17 intracranial chondrosarcoma 30.5 IDH2 IDH1
18 d-2-hydroxyglutaric aciduria 1 30.5 KDM4C IDH2 IDH1
19 2-hydroxyglutaric aciduria 30.5 KDM4C IDH2 IDH1
20 spinal cord disease 30.5 KDM4C IDH2 IDH1 ATRX
21 osteochondritis dissecans 30.4 COL2A1 BMP2 ACAN
22 osteogenic sarcoma 30.4 RUNX2 PTHLH PTH1R PTH BMP2 ATRX
23 low grade glioma 30.4 KDM4C IDH2 IDH1 ATRX
24 osteochondrosis 30.3 PTH IHH COL2A1 BMP2 ACAN
25 osteonecrosis 30.3 RUNX2 PTH1R PTH COL2A1 BMP2 ACP5
26 gliomatosis cerebri 30.3 KDM4C IDH2 IDH1 ATRX
27 brain stem glioma 30.3 KDM4C IDH2 IDH1
28 mccune-albright syndrome 30.3 PTH1R PTH GNAS COL2A1
29 fibrillary astrocytoma 30.2 IDH2 IDH1
30 juxtacortical chondroma 30.2 IDH2 IDH1 EXT2 EXT1
31 achondroplasia 30.2 PTH1R COL2A1 ACAN
32 spondylolisthesis 30.2 PTH BMP2 ACAN
33 pseudohypoparathyroidism, type ia 30.2 PTHLH PTH1R PTH GNAS
34 diffuse astrocytoma 30.2 KDM4C IDH2 IDH1 ATRX
35 pseudohypoparathyroidism 30.2 PTHLH PTH1R PTH GNAS
36 brain cancer 30.1 PTPN11 KDM4C IDH2 IDH1
37 periosteal chondrosarcoma 30.1 IDH2 IDH1 EXT2 EXT1 COL2A1
38 leukemia, acute myeloid 30.0 RUNX2 PTPN11 KDM4C IDH2 IDH1 CCDC26
39 osseous heteroplasia, progressive 30.0 RUNX2 PTHLH PTH GNAS BMP2
40 metaphyseal dysplasia 29.9 RUNX2 PTHLH PTH1R PTH COL2A1 ACP5
41 myelodysplastic syndrome 29.9 PTPN11 KDM4C IDH2 IDH1 ATRX
42 metachondromatosis 29.9 PTPN11 PTHLH PTH1R IHH EXT2 EXT1
43 scoliosis 29.8 RUNX2 PTPN11 EXT2 COL2A1 ACP5 ACAN
44 brachydactyly, type e1 29.7 PTHLH KDM4C
45 brachydactyly 29.6 RUNX2 PTHLH PTH IHH GNAS EXT1
46 bone disease 29.5 RUNX2 PTHLH PTH1R PTH EXT2 EXT1
47 osteochondrodysplasia 29.3 RUNX2 PTPN11 PTHLH PTH1R PTH IHH
48 synovial chondromatosis 11.5
49 dysplasia epiphysealis hemimelica with chondromas and osteochondromas 11.5
50 cheirospondyloenchondromatosis 11.3

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 30 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 micromelia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002983
2 visceral angiomatosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100761
3 multiple enchondromatosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005701
4 osteolysis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002797
5 abnormal metaphysis morphology 30 Hallmark (90%) HP:0000944
6 joint stiffness 58 30 Frequent (33%) Frequent (79-30%)
HP:0001387
7 subcutaneous nodule 58 30 Frequent (33%) Frequent (79-30%)
HP:0001482
8 bone pain 58 30 Frequent (33%) Frequent (79-30%)
HP:0002653
9 precocious puberty 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000826
10 anemia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001903
11 venous thrombosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004936
12 skin ulcer 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0200042
13 platyspondyly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000926
14 abnormality of coagulation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001928
15 lymphangioma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100764
16 chondrosarcoma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006765
17 hemangioma 58 30 Very frequent (99-80%)
HP:0001028
18 abnormality of the metaphysis 58 Very frequent (99-80%)
19 neoplasm 58 Occasional (29-5%)
20 sarcoma 58 Occasional (29-5%)
21 abnormal cartilage morphology 58 Very frequent (99-80%)
22 abnormal long bone morphology 30 HP:0011314

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 (Updated 08-Dec-2022)

UMLS symptoms related to Enchondromatosis, Multiple, Ollier Type:


pain

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

45 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.36 ACAN ATRX BMP2 COL2A1 EXT1 GNAS
2 nervous system MP:0003631 10.33 ACAN ATRX BMP2 COL2A1 EXT1 GNAS
3 limbs/digits/tail MP:0005371 10.31 ACAN ACP5 BMP2 COL2A1 EXT1 GNAS
4 cellular MP:0005384 10.21 ATRX BMP2 COL2A1 EXT1 GNAS IDH2
5 craniofacial MP:0005382 10.2 ACAN BMP2 COL2A1 EXT1 GNAS IHH
6 digestive/alimentary MP:0005381 10.18 ACAN BMP2 COL2A1 EXT1 GNAS IHH
7 cardiovascular system MP:0005385 10.18 ACAN ATRX BMP2 COL2A1 GNAS IDH2
8 immune system MP:0005387 10.18 ACAN ACP5 BMP2 COL2A1 GNAS IDH1
9 neoplasm MP:0002006 10.16 ACAN EXT1 GNAS IDH2 KDM4C PTH1R
10 skeleton MP:0005390 10.16 ACAN ACP5 BMP2 COL2A1 EXT1 EXT2
11 embryo MP:0005380 10.15 ATRX BMP2 COL2A1 EXT1 EXT2 GNAS
12 hearing/vestibular/ear MP:0005377 10 ACAN BMP2 COL2A1 EXT1 GNAS PTPN11
13 respiratory system MP:0005388 9.97 ACAN COL2A1 GNAS IDH1 IHH PTH1R
14 vision/eye MP:0005391 9.85 ATRX COL2A1 EXT1 GNAS IHH PTH
15 hematopoietic system MP:0005397 9.73 ACP5 BMP2 GNAS IDH1 IDH2 KDM4C
16 mortality/aging MP:0010768 9.53 ACAN ATRX BMP2 COL2A1 EXT1 EXT2

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
Isotretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4, 4759-48-2 5538 444795 5282379

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 Terminated 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 Recruiting NCT04134572
5 Exploring Resilience and Coping Strategies of Young Population in Response to Severe Acute Respiratory Syndrome Corona Virus 2 (SARS-CoV-2) Outbreak: a Longitudinal Study in a Cohort of Patients Affected by Rare Skeletal Disorders. Recruiting NCT04844697
6 Registry of Multiple Osteochondromas That Collects Clinical, Functional, Genetic, Genealogical, Imaging, Surgical, Quality of Life Data. Data Are Linked to Patients Biological Sample Recruiting NCT04133285
7 Genotype-Phenotype Correlation of Multiple Hereditary Exostoses: Multicentre Project Suspended NCT00474331
8 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

Anatomical Context for Enchondromatosis, Multiple, Ollier Type

Organs/tissues related to Enchondromatosis, Multiple, Ollier Type:

MalaCards : Bone, Skin, Liver, Spinal Cord, Ovary, Brain, Skeletal Muscle

Publications for Enchondromatosis, Multiple, Ollier Type

Articles related to Enchondromatosis, Multiple, Ollier Type:

(show top 50) (show all 1530)
# Title Authors PMID Year
1
PTHR1 mutations associated with Ollier disease result in receptor loss of function. 53 62 57
18559376 2008
2
Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150C. 53 62 57
15523647 2004
3
A mutant PTH/PTHrP type I receptor in enchondromatosis. 53 62 57
11850620 2002
4
Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome. 62 57
22057234 2011
5
Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2. 62 57
22057236 2011
6
Enchondromatosis: insights on the different subtypes. 62 57
20661403 2010
7
Generalized enchondromatosis in a boy with only platyspondyly in the father. 62 57
2063903 1991
8
The malignant potential of enchondromatosis. 62 57
3805090 1987
9
Ollier disease (enchondromatosis) associated with ovarian juvenile granulosa cell tumor and precocious pseudopuberty. 62 57
3712163 1986
10
Enchondromatosis (Ollier's disease) and ovarian juvenile granulosa cell tumor. 62 57
6365306 1984
11
Two peculiar types of enchondromatosis. 62 57
733398 1978
12
Fibromuscular dysplasia of intracranial arteries in a patient with multiple enchondromas (Ollier disease). 62 57
563016 1977
13
Chondrosarcoma in Maffucci's syndrome. 57
4055846 1985
14
[A further case of congenital generalized dyschondrotheosis, Ollier type]. 57
13876464 1962
15
[Heredity of osteochondromas]. 57
13630311 1959
16
[Three cases of Ollier's disease in one family]. 57
13150185 1954
17
Absence of IHH and retention of PTHrP signalling in enchondromas and central chondrosarcomas. 53 62
15685701 2005
18
Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes. 53 62
15525660 2005
19
PTHrP, PTH, and the PTH/PTHrP receptor in endochondral bone development. 53 62
14745975 2003
20
Thiram-induced hyperglycemia causes tibial dyschondroplasia by triggering aberrant ECM remodeling via the gut-pancreas axis in broiler chickens. 62
36423455 2023
21
HIF-1α upregulation exerts the antagonistic effect against angiogenesis inhibition in manganese deficiency-induced tibial dyschondroplasia of broiler chicks. 62
35835972 2022
22
Primary synovial chondromatosis of the hip joint (PrSC of the hip): A retrospective cohort analysis and review of the literature. 62
36420107 2022
23
Thiram induces myocardial oxidative damage and apoptosis in broilers via interfering their cardiac metabolism. 62
36288636 2022
24
Review on skeletal disorders caused by Staphylococcus spp. in poultry. 62
35076352 2022
25
Clinical and Genetic Analysis of Multiple Osteochondromas in A Cohort of Argentine Patients. 62
36360300 2022
26
Reliability of the Masada Classification for Forearm Involvement in Patients With Hereditary Multiple Osteochondromas (HMO). 62
36315832 2022
27
Concomitant lipoma arborescens and synovial osteochondromatosis of the knee. 62
35416508 2022
28
IDH Mutations Are Potentially the Intrinsic Genetic Link among the Multiple Neoplastic Lesions in Ollier Disease and Maffucci Syndrome: A Clinicopathologic Analysis from a Single Institute in Shanghai, China. 62
36428825 2022
29
Ollier Disease and a Case of Prolonged Menstrual Bleeding in an 11-Year-Old Girl: What's the Missing Link? 62
35678070 2022
30
Sodium butyrate ameliorates thiram-induced tibial dyschondroplasia and gut microbial dysbiosis in broiler chickens. 62
36183428 2022
31
Morinda officinalis Polysaccharides Ameliorates Bone Growth by Attenuating Oxidative Stress and Regulating the Gut Microbiota in Thiram-Induced Tibial Dyschondroplasia Chickens. 62
36295860 2022
32
Pain, popping, and episodic locking of the knee: osteochondromatosis. 62
36244385 2022
33
A frameshift variant in the EXT1 gene in a feline leukemia virus-negative cat with osteochondromatosis. 62
35719100 2022
34
Effects of Inorganic and Organic Manganese Supplementation on Growth Performance, Tibia Development, and Oxidative Stress in Broiler Chickens. 62
34851493 2022
35
Chlorogenic acid suppresses miR-460a in the regulation of Bcl-2, causing interleukin-1β reduction in thiram exposed chondrocytes via caspase-3/caspase-7 pathway. 62
35809377 2022
36
Correction to: Concomitant lipoma arborescens and synovial osteochondromatosis of the knee. 62
35467130 2022
37
Comprehensive analysis of differently expression mRNA and non-coding RNAs, and their regulatory mechanisms on relationship in thiram-induced tibial dyschondroplasia in chicken. 62
35908532 2022
38
Regulatory Role of Apoptotic and Inflammasome Related Proteins and Their Possible Functional Aspect in Thiram Associated Tibial Dyschondroplasia of Poultry. 62
36009620 2022
39
Rare Presentation of Pediatric Multiple Enchondromatosis Limited to Single Ray or Single Nerve Distribution in the Hand: A Multicenter Case Series. 62
35575990 2022
40
Incidental Finding of Synovial Osteochondromatosis: A Case Report. 62
36120269 2022
41
Synovial osteochondromatosis mimicking juvenile idiopathic arthritis in an adolescent: a case-based review. 62
35641775 2022
42
Is an association of acro-osteolysis, bone fragility, and enchondromatosis a newfound disease caused by an amplification of PTHLH? A case report. 62
35908058 2022
43
Brain Gliomas and Ollier Disease: Molecular Findings as Predictive Risk Factors? 62
35884525 2022
44
Enhanced Extracellular Matrix Degradation in Growth Plate Contributes to Manganese Deficiency-Induced Tibial Dyschondroplasia in Broiler Chicks. 62
34546491 2022
45
Osteochondromatosis: clinical variability and factors related to quality of life in children and adults. 62
35533120 2022
46
Probiotics Treatment of Leg Diseases in Broiler Chickens: a Review. 62
34757604 2022
47
Thiram exposure in environment: A critical review on cytotoxicity. 62
35149006 2022
48
Enlarged Reactional Periostitis of the Peroneal Tubercle Mimicking Osteochondromatosis of the Calcaneus: A Case Report. 62
35774645 2022
49
Effects of cold stress on growth performance, carcass traits and tibia attributes in broiler chickens with thiram-induced dyschondroplasia. 62
35638581 2022
50
Transcriptome-based biomarker gene screening and evaluation of the extracellular fatty acid-binding protein (Ex-FABP) on immune and angiogenesis-related genes in chicken erythrocytes of tibial dyschondroplasia. 62
35459093 2022

Variations for Enchondromatosis, Multiple, Ollier Type

ClinVar genetic disease variations for Enchondromatosis, Multiple, Ollier Type:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IDH1 NM_005896.4(IDH1):c.394C>T (p.Arg132Cys) SNV Pathogenic
Pathogenic
375891 rs121913499 GRCh37: 2:209113113-209113113
GRCh38: 2:208248389-208248389
2 IDH1 NM_005896.4(IDH1):c.395G>A (p.Arg132His) SNV Pathogenic
156444 rs121913500 GRCh37: 2:209113112-209113112
GRCh38: 2:208248388-208248388

Cosmic variations for Enchondromatosis, Multiple, Ollier Type:

8 (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 COSM85480033 TSHR bone,skull,chondrosarcoma,NS c.1210G>T p.E404* 14:81143268-81143268 7
2 COSM131096137 TSHR bone,skull,chondrosarcoma,NS c.1210G>T p.E404* 14:81143268-81143268 7
3 COSM97086777 PTPRT bone,skull,chondrosarcoma,NS c.878C>T p.A293V 20:42678141-42678141 7
4 COSM97185682 PTPRT bone,skull,chondrosarcoma,NS c.878C>T p.A293V 20:42678141-42678141 7
5 COSM96860001 PTPRT bone,skull,chondrosarcoma,NS c.878C>T p.A293V 20:42678141-42678141 7
6 COSM96641930 PTPRT bone,skull,chondrosarcoma,NS c.878C>T p.A293V 20:42678141-42678141 7
7 COSM143686194 PTPRT bone,skull,chondrosarcoma,NS c.665C>T p.A222V 20:42678141-42678141 7
8 COSM96745153 PTPRT bone,skull,chondrosarcoma,NS c.878C>T p.A293V 20:42678141-42678141 7
9 COSM96973805 PTPRT bone,skull,chondrosarcoma,NS c.878C>T p.A293V 20:42678141-42678141 7
10 COSM93299070 PTPRT bone,skull,chondrosarcoma,NS c.878C>T p.A293V 20:42678141-42678141 7
11 COSM86885224 IRS1 bone,skull,chondrosarcoma,NS c.730G>T p.V244L 2:226798009-226798009 7
12 COSM112752272 IDH1 bone,skull,chondrosarcoma,NS c.394C>T p.R132C 2:208248389-208248389 7
13 COSM112752230 IDH1 bone,skull,chondrosarcoma,NS c.395G>A p.R132H 2:208248388-208248388 7
14 COSM90465359 IDH1 bone,skull,chondrosarcoma,NS c.395G>A p.R132H 2:208248388-208248388 7
15 COSM103034000 IDH1 bone,skull,chondrosarcoma,NS c.395G>T p.R132L 2:208248388-208248388 7
16 COSM90465675 IDH1 bone,skull,chondrosarcoma,NS c.395G>T p.R132L 2:208248388-208248388 7
17 COSM112752563 IDH1 bone,skull,chondrosarcoma,NS c.395G>T p.R132L 2:208248388-208248388 7
18 COSM103033757 IDH1 bone,skull,chondrosarcoma,NS c.395G>A p.R132H 2:208248388-208248388 7
19 COSM84952478 FOXA1 bone,skull,chondrosarcoma,NS c.1213C>A p.L405I 14:37591571-37591571 7
20 COSM90465396 IDH1 bone,rib,chondrosarcoma,NS c.394C>T p.R132C 2:208248389-208248389 6
21 COSM103033796 IDH1 bone,rib,chondrosarcoma,NS c.394C>T p.R132C 2:208248389-208248389 6

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

6 (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 FAM86DP 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:

(show all 13)
# Super pathways Score Top Affiliating Genes
1 13.52 PTPN11 PTHLH PTH1R PTH KDM4C IHH
2
Show member pathways
12.13 PTHLH PTH1R PTH IHH GNAS
3
Show member pathways
11.87 GNAS PTH PTH1R PTHLH
4 11.63 RUNX2 PTH COL2A1 BMP2 ACAN
5
Show member pathways
11.6 RUNX2 PTHLH PTH1R PTH IHH COL2A1
6 11.56 RUNX2 PTH BMP2
8 11.23 RUNX2 PTH1R PTH
9 10.89 PTHLH PTH1R IHH BMP2
10 10.78 EXT2 EXT1
11 10.77 COL2A1 BMP2
12 10.69 RUNX2 PTHLH PTH1R PTH IHH GNAS
13 10.57 RUNX2 BMP2

GO Terms for Enchondromatosis, Multiple, Ollier Type

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

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell population proliferation GO:0008284 10.34 BMP2 IHH KDM4C PTH1R PTHLH RUNX2
2 adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0007189 10.21 GNAS PTH PTH1R PTHLH
3 regulation of gene expression GO:0010468 10.19 RUNX2 PTHLH PTH KDM4C IHH COL2A1
4 multicellular organism growth GO:0035264 10.13 PTPN11 IHH EXT1 ATRX
5 gene expression GO:0010467 10.12 RUNX2 EXT2 EXT1 BMP2
6 collagen fibril organization GO:0030199 10.04 EXT1 COL2A1 ACAN
7 cell maturation GO:0048469 10.04 IHH PTH1R RUNX2
8 inner ear development GO:0048839 10.03 PTPN11 COL2A1 BMP2
9 endochondral ossification GO:0001958 10.03 RUNX2 EXT1 COL2A1
10 bone mineralization GO:0030282 10.03 BMP2 PTH PTH1R PTHLH
11 positive regulation of inositol phosphate biosynthetic process GO:0060732 9.96 PTH1R PTH
12 bone resorption GO:0045453 9.96 PTH1R PTH IHH EXT1 ACP5
13 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.95 EXT1 COL2A1
14 osteoblast development GO:0002076 9.95 RUNX2 PTHLH PTH1R
15 heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process GO:0015014 9.94 EXT2 EXT1
16 regulation of odontogenesis of dentin-containing tooth GO:0042487 9.93 RUNX2 BMP2
17 embryonic skeletal joint development GO:0072498 9.92 IHH EXT1
18 isocitrate metabolic process GO:0006102 9.92 IDH2 IDH1
19 negative regulation of chondrocyte differentiation GO:0032331 9.92 IHH PTH PTHLH PTPN11
20 cellular response to BMP stimulus GO:0071773 9.91 RUNX2 EXT1 COL2A1 BMP2
21 cAMP metabolic process GO:0046058 9.88 PTHLH PTH
22 proteoglycan metabolic process GO:0006029 9.88 IHH COL2A1 BMP2
23 fluid transport GO:0042044 9.85 EXT2 EXT1
24 positive regulation of ossification GO:0045778 9.85 PTPN11 PTH BMP2
25 ossification GO:0001503 9.85 RUNX2 PTH1R IHH EXT2 EXT1 COL2A1
26 cellular polysaccharide biosynthetic process GO:0033692 9.84 EXT2 EXT1
27 glyoxylate cycle GO:0006097 9.81 IDH1 IDH2
28 mesenchyme development GO:0060485 9.78 EXT1 BMP2
29 endochondral bone morphogenesis GO:0060350 9.77 EXT2 EXT1
30 response to parathyroid hormone GO:0071107 9.77 PTH GNAS
31 chondrocyte differentiation GO:0002062 9.73 BMP2 COL2A1 EXT1 EXT2 IHH PTH1R
32 skeletal system development GO:0001501 9.55 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 glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity GO:0050508 9.62 EXT2 EXT1
2 N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity GO:0050509 9.56 EXT2 EXT1
3 heparan sulfate N-acetylglucosaminyltransferase activity GO:0042328 9.46 EXT2 EXT1
4 isocitrate dehydrogenase (NADP+) activity GO:0004450 9.26 IDH2 IDH1
5 peptide hormone receptor binding GO:0051428 9.1 PTPN11 PTHLH PTH

Sources for Enchondromatosis, Multiple, Ollier Type

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....