MCID: HRD104
MIFTS: 43

Hereditary Multiple Osteochondromas

Categories: Bone diseases, Cancer diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Hereditary Multiple Osteochondromas

MalaCards integrated aliases for Hereditary Multiple Osteochondromas:

Name: Hereditary Multiple Osteochondromas 24 19 42 5
Hereditary Multiple Exostoses 24 42 71
Multiple Cartilaginous Exostoses 24 42
Multiple Hereditary Exostoses 42 75
Diaphyseal Aclasis 24 42
Exostoses, Multiple Hereditary 42
Multiple Congenital Exostosis 42
Multiple Osteochondromatosis 42
Multiple Osteochondromas 42
Bessel-Hagen Disease 42
Osteochondromatosis 71
Familial Exostoses 42

Characteristics:


GeneReviews:

24
Penetrance The penetrance is estimated to be 96% in females and 100% in males [schmale et al 1994]. most published instances of reduced penetrance have occurred in females. however, comprehensive skeletal radiographs have not been performed in most of these instances.

Classifications:



External Ids:

UMLS 71 C0015306 C0206641

Summaries for Hereditary Multiple Osteochondromas

MedlinePlus Genetics: 42 Hereditary multiple osteochondromas is a condition in which people develop multiple benign (noncancerous) bone tumors called osteochondromas. The number of osteochondromas and the bones on which they are located vary greatly among affected individuals. The osteochondromas are not present at birth, but approximately 96 percent of affected people develop multiple osteochondromas by the time they are 12 years old. Osteochondromas typically form at the end of long bones and on flat bones such as the hip and shoulder blade.Multiple osteochondromas can disrupt bone growth and can cause growth disturbances of the arms, hands, and legs, leading to short stature. Often these problems with bone growth do not affect the right and left limb equally, resulting in uneven limb lengths (limb length discrepancy). Bowing of the forearm or ankle and abnormal development of the hip joints (hip dysplasia) caused by osteochondromas can lead to difficulty walking and general discomfort. Multiple osteochondromas may also result in pain, limited range of joint movement, and pressure on nerves, blood vessels, the spinal cord, and tissues surrounding the osteochondromas.Osteochondromas are typically benign; however, in some instances these tumors become malignant (cancerous). Researchers estimate that people with hereditary multiple osteochondromas have a 1 in 20 to 1 in 200 lifetime risk of developing cancerous osteochondromas (called sarcomas).

MalaCards based summary: Hereditary Multiple Osteochondromas, also known as hereditary multiple exostoses, is related to exostoses, multiple, type i and trichorhinophalangeal syndrome, type ii. An important gene associated with Hereditary Multiple Osteochondromas is EXT1 (Exostosin Glycosyltransferase 1), and among its related pathways/superpathways are Chondroitin sulfate/dermatan sulfate metabolism and Mesodermal commitment pathway. The drug Isotretinoin has been mentioned in the context of this disorder. Affiliated tissues include spinal cord, bone and lung.

GARD: 19 Hereditary multiple osteochondromas (HMO), also called hereditary multiple exostoses, is a genetic disorder that causes the development of multiple, cartilage-covered tumors on the external surfaces of bones (osteochondromas). The osteochondromas typically become apparent during childhood or adolescence, and the number, size and location of osteochondromas varies from person to person. Signs and symptoms may include pain, decreased range of motion, nerve impingement, deformity, differences in limb length, short stature, and fractures. Osteochondromas of the ribs may cause complications such as a collapsed lung (pneumothorax), hemothorax, or pericardial effusion. Osteochondromas typically grow throughout childhood and stop growing when the growth plates close. However, they do recur later on in some people. While the vast majority of osteochondromas are benign (noncancerous), they may become malignant (cancerous) in adulthood in 2% to 5% of people with HMO. Most cases of HMO are caused by a genetic change in the EXT1 or EXT2 gene with autosomal dominant inheritance. About 96% of females with a genetic change responsible for HMO will develop osteochondromas (a phenomenon known as reduced penetrance), and 100% of males will develop osteochondromas.

Wikipedia: 75 Hereditary multiple osteochondromas (HMO), also known as hereditary multiple exostoses, is a disorder... more...

GeneReviews: NBK1235

Related Diseases for Hereditary Multiple Osteochondromas

Diseases in the Osteochondroma family:

Hereditary Multiple Osteochondromas

Diseases related to Hereditary Multiple Osteochondromas via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 163)
# Related Disease Score Top Affiliating Genes
1 exostoses, multiple, type i 32.1 EXT2 EXT1
2 trichorhinophalangeal syndrome, type ii 31.8 EXT2 EXT1
3 osteochondroma 31.5 EXT2 EXT1
4 hereditary multiple exostoses 31.3 POMGNT2 EXT2 EXT1
5 chondrosarcoma 29.9 EXT2 EXT1
6 bone disease 29.7 EXT2 EXT1
7 metachondromatosis 29.7 EXT2 EXT1
8 enchondromatosis, multiple, ollier type 29.5 EXT2 EXT1
9 multiple enchondromatosis, maffucci type 29.5 EXT2 EXT1
10 exostosis 29.5 POMGNT2 EXT2 EXT1
11 osteochondrodysplasia 29.3 EXT2 EXT1
12 exostoses, multiple, type ii 11.5
13 exostoses, multiple, type iii 11.4
14 potocki-shaffer syndrome 11.3
15 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.5
16 spinal cord disease 10.3
17 calcinosis 10.2
18 chondroma 10.2
19 pneumothorax, primary spontaneous 10.2
20 pneumothorax 10.2
21 chronic pain 10.2
22 osteoarthritis 10.2
23 developmental dysplasia of the hip 1 10.1
24 scoliosis 10.1
25 quadriplegia 10.1
26 bursitis 10.1
27 spinal stenosis 10.1
28 neuropathy 10.1
29 trichorhinophalangeal syndrome 10.1
30 virus-associated trichodysplasia spinulosa 10.1
31 neurofibromatosis, type i 10.1
32 osseous heteroplasia, progressive 10.1
33 peripheral dysostosis 10.1
34 dysostosis 10.1
35 achalasia 10.1
36 myeloproliferative syndrome, transient 10.1
37 familial adenomatous polyposis 1 10.1
38 polyposis, intestinal, with multiple exostoses 10.1
39 trichorhinophalangeal syndrome, type i 10.1
40 down syndrome 10.1
41 osteogenic sarcoma 10.1
42 sarcoma 10.1
43 hemolytic anemia 10.1
44 neurofibromatosis 10.1
45 hemophilia 10.1
46 spinal cord injury 10.1
47 bone cancer 10.1
48 enchondroma 10.1
49 brooke-spiegler syndrome 10.0
50 reading disorder 10.0

Graphical network of the top 20 diseases related to Hereditary Multiple Osteochondromas:



Diseases related to Hereditary Multiple Osteochondromas

Symptoms & Phenotypes for Hereditary Multiple Osteochondromas

Drugs & Therapeutics for Hereditary Multiple Osteochondromas

Drugs for Hereditary Multiple Osteochondromas (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 Multiple Osteochondromas That Collects Clinical, Functional, Genetic, Genealogical, Imaging, Surgical, Quality of Life Data. Data Are Linked to Patients Biological Sample Recruiting NCT04133285
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 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
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 Hereditary Multiple Osteochondromas

Genetic Tests for Hereditary Multiple Osteochondromas

Anatomical Context for Hereditary Multiple Osteochondromas

Organs/tissues related to Hereditary Multiple Osteochondromas:

MalaCards : Spinal Cord, Bone, Lung, Bone Marrow, Colon, Endothelial, Ovary

Publications for Hereditary Multiple Osteochondromas

Articles related to Hereditary Multiple Osteochondromas:

(show top 50) (show all 941)
# Title Authors PMID Year
1
Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants. 62 24 5
30806661 2019
2
Analysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromas. 62 24 5
29529714 2018
3
A genotype-phenotype study of hereditary multiple exostoses in forty-six Chinese patients. 62 24 5
29126381 2017
4
Genotype-phenotype correlation study in 529 patients with multiple hereditary exostoses: identification of "protective" and "risk" factors. 62 24 5
22258776 2011
5
Genetic models of osteochondroma onset and neoplastic progression: evidence for mechanisms alternative to EXT genes inactivation. 62 24 5
20418910 2010
6
Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb). 62 24 5
19810120 2009
7
The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate. 62 24 5
10639137 2000
8
Heterogeneous spectrum of EXT gene mutations in Chinese patients with hereditary multiple osteochondromas. 62 5
30334991 2018
9
Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas. 62 5
26961984 2016
10
Genetic screening of EXT1 and EXT2 in Cypriot families with hereditary multiple osteochondromas. 62 5
26690531 2015
11
Hereditary multiple exostoses and solitary osteochondroma associated with growth hormone deficiency: to treat or not to treat? 62 5
26239617 2015
12
Loss of function in heparan sulfate elongation genes EXT1 and EXT 2 results in improved nitric oxide bioavailability and endothelial function. 62 5
25468659 2014
13
A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG. 62 5
25230886 2014
14
Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses. 62 5
24532482 2014
15
Clinical characteristics of hereditary multiple exostoses: a retrospective study of mainland chinese cases in recent 23 years. 62 5
24496678 2014
16
Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas. 62 5
23439489 2013
17
Identification of four novel EXT1 and EXT2 mutations in five Chinese pedigrees with hereditary multiple exostoses. 62 5
19839753 2009
18
Genetic analysis of hereditary multiple exostoses in Tunisian families: a novel frame-shift mutation in the EXT1 gene. 62 5
18330718 2009
19
Mutation screening of EXT1 and EXT2 by denaturing high-performance liquid chromatography, direct sequencing analysis, fluorescence in situ hybridization, and a new multiplex ligation-dependent probe amplification probe set in patients with multiple osteochondromas. 62 5
18165274 2008
20
Determination of the mutation spectrum of the EXT1/EXT2 genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in EXT negative cases. 62 5
17041877 2006
21
An optimized DHPLC protocol for molecular testing of the EXT1 and EXT2 genes in hereditary multiple osteochondromas. 62 5
16283885 2005
22
Mutation screening of EXT1 and EXT2 by direct sequence analysis and MLPA in patients with multiple osteochondromas: splice site mutations and exonic deletions account for more than half of the mutations. 62 5
15586175 2005
23
Two-color multiplex ligation-dependent probe amplification: detecting genomic rearrangements in hereditary multiple exostoses. 62 5
15221792 2004
24
Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity. 62 5
11391482 2001
25
Genotype-phenotype correlation in hereditary multiple exostoses. 62 5
11432960 2001
26
Mutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostoses. 62 5
11170095 2001
27
Association of EXT1 and EXT2, hereditary multiple exostoses gene products, in Golgi apparatus. 62 5
10679296 2000
28
Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes. 62 5
10679937 2000
29
Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostoses. 62 5
10713884 2000
30
Mutation analysis of hereditary multiple exostoses in the Chinese. 62 5
10480354 1999
31
The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate. 62 5
9620772 1998
32
Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses. 62 5
9463333 1998
33
Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses. 62 5
9521425 1998
34
Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses. 62 5
9326317 1997
35
Identification of novel mutations in the human EXT1 tumor suppressor gene. 62 5
9150727 1997
36
Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies. 62 5
8981950 1997
37
Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1). 62 5
7550340 1995
38
Surgical Management of Thoracic Multiple Exostoses. 62 24
31589851 2020
39
Whole-body MRI in assessing malignant transformation in multiple hereditary exostoses and enchondromatosis: audit results and literature review. 62 24
31273432 2020
40
Spinal Screening MRI Trends in Patients with Multiple Hereditary Exostoses: National Survey. 62 24
32010535 2019
41
Late presentation of spinal cord compression in hereditary multiple exostosis: case reports and review of the literature. 62 24
31695813 2019
42
Knee locked in flexion: incarcerated semitendinosus tendon around a proximal tibial osteochondroma. 62 24
30788088 2019
43
Is Routine Spine MRI Necessary in Skeletally Immature Patients With MHE? Identifying Patients at Risk for Spinal Osteochondromas. 62 24
29016429 2019
44
Identification of risk factors affecting bone formation in gradual ulnar lengthening in children with hereditary multiple exostoses: A retrospective study. 62 24
30702592 2019
45
Osteochondroma of the scapula associated with a subclavian artery pseudoaneurysm: Case report. 62 24
30675356 2019
46
Expanding the phenome and variome of skeletal dysplasia. 5
29620724 2018
47
Chondrosarcoma transformation in hereditary multiple exostoses: A systematic review and clinical and cost-effectiveness of a proposed screening model. 62 24
30591865 2018
48
The pathogenic roles of heparan sulfate deficiency in hereditary multiple exostoses. 62 24
29277722 2018
49
Hereditary multiple exostoses of the ribs as an uncommon cause of pneumothorax: A case report. 62 24
30170381 2018
50
Multiple Hereditary Exostoses with Tetraparesis Due To Cervical Spine Osteochondroma. 62 24
29783013 2018

Variations for Hereditary Multiple Osteochondromas

ClinVar genetic disease variations for Hereditary Multiple Osteochondromas:

5 (show top 50) (show all 547)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EXT1 NM_000127.3(EXT1):c.1633-34_1670del DEL Pathogenic
456063 rs1554657940 GRCh37: 8:118825163-118825234
GRCh38: 8:117812924-117812995
2 EXT1 NM_000127.3(EXT1):c.1401del (p.Tyr468fs) DEL Pathogenic
456061 rs1554579004 GRCh37: 8:118834720-118834720
GRCh38: 8:117822481-117822481
3 EXT1 NM_000127.2(EXT1):c.369_370delinsT (p.Lys123fs) INDEL Pathogenic
566150 rs1563659571 GRCh37: 8:119122916-119122917
GRCh38: 8:118110677-118110678
4 EXT1 NM_000127.3(EXT1):c.1236G>A (p.Trp412Ter) SNV Pathogenic
650518 rs1587001428 GRCh37: 8:118842517-118842517
GRCh38: 8:117830278-117830278
5 EXT1 NM_000127.3(EXT1):c.276_277dup (p.Tyr93fs) DUP Pathogenic
653826 rs1586279952 GRCh37: 8:119123008-119123009
GRCh38: 8:118110769-118110770
6 EXT1 NC_000008.11:g.(?_118110065)_(118111066_?)del DEL Pathogenic
664442 GRCh37: 8:119122304-119123305
GRCh38: 8:118110065-118111066
7 EXT1 NM_000127.3(EXT1):c.1952_1959del (p.Asn651fs) DEL Pathogenic
830046 rs1586989189 GRCh37: 8:118817057-118817064
GRCh38: 8:117804818-117804825
8 EXT1 NC_000008.11:g.(?_117799692)_(117799917_?)del DEL Pathogenic
833208 GRCh37: 8:118811931-118812156
GRCh38:
9 EXT1 NC_000008.11:g.(?_117799692)_(118111066_?)del DEL Pathogenic
833433 GRCh37: 8:118811931-119123305
GRCh38:
10 EXT1 NM_000127.3(EXT1):c.124_962+1815del DEL Pathogenic
851459 GRCh37: 8:119120509-119123162
GRCh38: 8:118108270-118110923
11 EXT1 NM_000127.3(EXT1):c.1285-1G>C SNV Pathogenic
870448 rs1811943967 GRCh37: 8:118834837-118834837
GRCh38: 8:117822598-117822598
12 EXT1 NM_000127.3(EXT1):c.1746G>A (p.Trp582Ter) SNV Pathogenic
817515 rs1586990398 GRCh37: 8:118819593-118819593
GRCh38: 8:117807354-117807354
13 EXT1 NM_000127.3(EXT1):c.651_664delinsTTT (p.Lys218fs) INDEL Pathogenic
965420 rs1817873963 GRCh37: 8:119122622-119122635
GRCh38: 8:118110383-118110396
14 EXT1 NM_000127.3(EXT1):c.818_823delinsAAGGC (p.Thr273fs) INDEL Pathogenic
970664 rs1817870176 GRCh37: 8:119122463-119122468
GRCh38: 8:118110224-118110229
15 EXT1 NM_000127.3(EXT1):c.1235_1236delinsC (p.Trp412fs) INDEL Pathogenic
970984 rs1812076915 GRCh37: 8:118842517-118842518
GRCh38: 8:117830278-117830279
16 EXT1 NM_000127.3(EXT1):c.1633-1G>A SNV Pathogenic
972704 rs1823354043 GRCh37: 8:118825201-118825201
GRCh38: 8:117812962-117812962
17 EXT1 NM_000127.3(EXT1):c.1434_1440dup (p.Thr481fs) DUP Pathogenic
982022 rs1811892597 GRCh37: 8:118832010-118832011
GRCh38: 8:117819771-117819772
18 EXT1 NC_000008.10:g.(?_119120510)_119123163del DEL Pathogenic
1072964 GRCh37:
GRCh38:
19 EXT1 NC_000008.10:g.(?_118788188)_118817001del DEL Pathogenic
1072965 GRCh37:
GRCh38:
20 EXT1 NC_000008.10:g.(?_118596815)_118825146del DEL Pathogenic
1072966 GRCh37:
GRCh38:
21 EXT1 NC_000008.10:g.(?_118825208)_119035925del DEL Pathogenic
1076976 GRCh37:
GRCh38:
22 EXT1 NM_000127.3(EXT1):c.1290_1297del (p.Ile430fs) DEL Pathogenic
1329470 GRCh37: 8:118834824-118834831
GRCh38: 8:117822585-117822592
23 EXT1 NM_000127.3(EXT1):c.1303_1304dup (p.Lys436fs) DUP Pathogenic
1329471 GRCh37: 8:118834816-118834817
GRCh38: 8:117822577-117822578
24 EXT1 NM_000127.3(EXT1):c.392dup (p.Tyr131Ter) DUP Pathogenic
1333161 GRCh37: 8:119122893-119122894
GRCh38: 8:118110654-118110655
25 EXT1 NM_000127.3(EXT1):c.2133G>A (p.Trp711Ter) SNV Pathogenic
1306269 GRCh37: 8:118812059-118812059
GRCh38: 8:117799820-117799820
26 EXT1 NM_000127.3(EXT1):c.1829C>A (p.Ser610Ter) SNV Pathogenic
1358220 GRCh37: 8:118819510-118819510
GRCh38: 8:117807271-117807271
27 EXT1 NC_000008.10:g.(?_119122304)_(119123285_?)del DEL Pathogenic
1398964 GRCh37: 8:119122304-119123285
GRCh38:
28 EXT1 NM_000127.3(EXT1):c.1076dup (p.Met359fs) DUP Pathogenic
1372124 GRCh37: 8:118847770-118847771
GRCh38: 8:117835531-117835532
29 EXT1 NM_000127.3(EXT1):c.613G>T (p.Glu205Ter) SNV Pathogenic
1355295 GRCh37: 8:119122673-119122673
GRCh38: 8:118110434-118110434
30 EXT1 NM_000127.3(EXT1):c.1779del (p.Ala594fs) DEL Pathogenic
1410153 GRCh37: 8:118819560-118819560
GRCh38: 8:117807321-117807321
31 EXT1 NM_000127.3(EXT1):c.1073dup (p.Met359fs) DUP Pathogenic
1409072 GRCh37: 8:118847773-118847774
GRCh38: 8:117835534-117835535
32 EXT1 NM_000127.3(EXT1):c.773_777del (p.Pro258fs) DEL Pathogenic
1430274 GRCh37: 8:119122509-119122513
GRCh38: 8:118110270-118110274
33 EXT1 NM_000127.3(EXT1):c.1193del (p.Gln398fs) DEL Pathogenic
1430937 GRCh37: 8:118842560-118842560
GRCh38: 8:117830321-117830321
34 EXT1 NM_000127.3(EXT1):c.1762dup (p.Arg588fs) DUP Pathogenic
1417206 GRCh37: 8:118819576-118819577
GRCh38: 8:117807337-117807338
35 EXT1 NM_000127.3(EXT1):c.907del (p.Asp303fs) DEL Pathogenic
1442354 GRCh37: 8:119122379-119122379
GRCh38: 8:118110140-118110140
36 EXT1 NC_000008.10:g.(?_118830654)_(118849460_?)del DEL Pathogenic
1454545 GRCh37: 8:118830654-118849460
GRCh38:
37 EXT1 NM_000127.3(EXT1):c.1678_1679del (p.Ala560fs) DEL Pathogenic
1454658 GRCh37: 8:118825154-118825155
GRCh38: 8:117812915-117812916
38 EXT1 NM_000127.3(EXT1):c.1522C>T (p.Gln508Ter) SNV Pathogenic
1455161 GRCh37: 8:118831929-118831929
GRCh38: 8:117819690-117819690
39 EXT1 NM_000127.3(EXT1):c.1692dup (p.Asp565Ter) DUP Pathogenic
1363294 GRCh37: 8:118825140-118825141
GRCh38: 8:117812901-117812902
40 EXT1 NM_000127.3(EXT1):c.600G>A (p.Trp200Ter) SNV Pathogenic
1458869 GRCh37: 8:119122686-119122686
GRCh38: 8:118110447-118110447
41 EXT1 NM_000127.3(EXT1):c.293del (p.Cys98fs) DEL Pathogenic
1444962 GRCh37: 8:119122993-119122993
GRCh38: 8:118110754-118110754
42 overlap with 16 genes NC_000008.10:g.(?_116426251)_(120844804_?)del DEL Pathogenic
1458813 GRCh37: 8:116426251-120844804
GRCh38:
43 EXT1 NM_000127.3(EXT1):c.1164+1G>A SNV Pathogenic
1458863 GRCh37: 8:118847682-118847682
GRCh38: 8:117835443-117835443
44 EXT1 NC_000008.10:g.(?_118803587)_(118819524_?)del DEL Pathogenic
1459667 GRCh37: 8:118803587-118819524
GRCh38:
45 EXT1 NM_000127.3(EXT1):c.1537-1G>C SNV Pathogenic
1459675 GRCh37: 8:118830770-118830770
GRCh38: 8:117818531-117818531
46 EXT1 NM_000127.3(EXT1):c.1624G>T (p.Glu542Ter) SNV Pathogenic
1453875 GRCh37: 8:118830682-118830682
GRCh38: 8:117818443-117818443
47 EXT1 NM_000127.3(EXT1):c.393C>G (p.Tyr131Ter) SNV Pathogenic
1455002 GRCh37: 8:119122893-119122893
GRCh38: 8:118110654-118110654
48 EXT1 NM_000127.3(EXT1):c.637C>T (p.Gln213Ter) SNV Pathogenic
1456109 GRCh37: 8:119122649-119122649
GRCh38: 8:118110410-118110410
49 EXT1 NM_000127.3(EXT1):c.787del (p.Met263fs) DEL Pathogenic
1451424 GRCh37: 8:119122499-119122499
GRCh38: 8:118110260-118110260
50 EXT1 NM_000127.3(EXT1):c.770del (p.Pro257fs) DEL Pathogenic
1453090 GRCh37: 8:119122516-119122516
GRCh38: 8:118110277-118110277

Expression for Hereditary Multiple Osteochondromas

Search GEO for disease gene expression data for Hereditary Multiple Osteochondromas.

Pathways for Hereditary Multiple Osteochondromas

GO Terms for Hereditary Multiple Osteochondromas

Cellular components related to Hereditary Multiple Osteochondromas according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.1 POMGNT2 EXT2 EXT1

Biological processes related to Hereditary Multiple Osteochondromas according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 gene expression GO:0010467 9.88 EXT2 EXT1
2 ossification GO:0001503 9.87 EXT2 EXT1
3 regulation of blood pressure GO:0008217 9.86 EXT2 EXT1
4 vasodilation GO:0042311 9.84 EXT2 EXT1
5 heparan sulfate proteoglycan biosynthetic process GO:0015012 9.81 EXT2 EXT1
6 heart contraction GO:0060047 9.8 EXT2 EXT1
7 glycosaminoglycan biosynthetic process GO:0006024 9.78 EXT2 EXT1
8 sodium ion homeostasis GO:0055078 9.76 EXT1 EXT2
9 sulfation GO:0051923 9.73 EXT2 EXT1
10 chondrocyte differentiation GO:0002062 9.72 EXT2 EXT1
11 heparin biosynthetic process GO:0030210 9.71 EXT2 EXT1
12 cellular response to fibroblast growth factor stimulus GO:0044344 9.7 EXT2 EXT1
13 multicellular organismal water homeostasis GO:0050891 9.67 EXT2 EXT1
14 heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process GO:0015014 9.62 EXT2 EXT1
15 protein glycosylation GO:0006486 9.56 POMGNT2 EXT2 EXT1
16 endochondral bone morphogenesis GO:0060350 9.33 EXT2 EXT1
17 fluid transport GO:0042044 9.26 EXT2 EXT1
18 cellular polysaccharide biosynthetic process GO:0033692 8.92 EXT2 EXT1

Molecular functions related to Hereditary Multiple Osteochondromas according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 glycosyltransferase activity GO:0016757 9.8 POMGNT2 EXT2 EXT1
2 glucuronosyltransferase activity GO:0015020 9.67 EXT2 EXT1
3 transferase activity GO:0016740 9.58 POMGNT2 EXT2 EXT1
4 glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity GO:0050508 9.56 EXT2 EXT1
5 N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity GO:0050509 9.46 EXT2 EXT1
6 heparan sulfate N-acetylglucosaminyltransferase activity GO:0042328 9.26 EXT2 EXT1
7 acetylglucosaminyltransferase activity GO:0008375 9.1 POMGNT2 EXT2 EXT1

Sources for Hereditary Multiple Osteochondromas

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
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