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HMO
MCID: HRD104
MIFTS: 43

Hereditary Multiple Osteochondromas (HMO)

Categories: Bone diseases, Cancer diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Hereditary Multiple Osteochondromas

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MalaCards integrated aliases for Hereditary Multiple Osteochondromas:

Name: Hereditary Multiple Osteochondromas 25 20 43 6
Hereditary Multiple Exostoses 25 20 43 70
Multiple Cartilaginous Exostoses 25 43
Diaphyseal Aclasis 25 43
Multiple Exostoses 20 36
Exostoses, Multiple Hereditary 43
Multiple Congenital Exostosis 43
Multiple Hereditary Exostoses 43
Hereditary Multiple Exostosis 20
Multiple Osteochondromatosis 43
Multiple Osteochondromas 43
Bessel-Hagen Disease 43
Osteochondromatosis 70
Exostoses, Multiple 39
Familial Exostoses 43
Hmo 20

Characteristics:

GeneReviews:

25
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:

MalaCards categories:
Global: Rare diseases Cancer diseases Genetic diseases
Anatomical: Neuronal diseases Bone diseases
See all MalaCards categories (disease lists)


External Ids:

KEGG 36 H00122
UMLS 70 C0015306 C0206641
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Summaries for Hereditary Multiple Osteochondromas

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GARD : 20 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 mutation in the EXT1 or EXT2 gene with autosomal dominant inheritance. About 96% of females with a mutation responsible for HMO will develop osteochondromas (a phenomenon known as reduced penetrance ), and 100% of males will develop osteochondromas. Treatment depends on the locations and sizes of osteochondromas and the severity of symptoms they cause. Examples of treatment options include a "watch and wait" approach (when no symptoms are present), surgical removal of the tumor, corrective osteotomy, and growth plate arrest or limb-lengthening procedures. While benign osteochondromas generally do not affect life expectancy, they still may cause a variety of health problems and debilitating symptoms that can impair quality of life. Osteochondromas that become malignant (turning into chondrosarcomas or osteosarcomas) can be life-threatening, but the outlook in these cases may depend on the tumor grade.

MalaCards based summary : Hereditary Multiple Osteochondromas, also known as hereditary multiple exostoses, is related to trichorhinophalangeal syndrome, type ii and osteochondroma. An important gene associated with Hereditary Multiple Osteochondromas is EXT1 (Exostosin Glycosyltransferase 1), and among its related pathways/superpathways are Glycosaminoglycan biosynthesis - heparan sulfate / heparin and Mesodermal Commitment Pathway. The drug Tretinoin has been mentioned in the context of this disorder. Affiliated tissues include bone, spinal cord and myeloid.

MedlinePlus Genetics : 43 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).

KEGG : 36 Hereditary multiple exostoses syndrome is the most frequent glycosylation defect, which is characterized by benign osteochondromas on the ends of long bones.

GeneReviews: NBK1235
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Related Diseases for Hereditary Multiple Osteochondromas

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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 275)
# Related Disease Score Top Affiliating Genes
1 trichorhinophalangeal syndrome, type ii 31.7 EXT2 EXT1
2 osteochondroma 31.5 EXT2 EXT1
3 hereditary multiple exostoses 31.2 POMGNT2 EXT2 EXT1
4 exostoses, multiple, type i 31.2 EXT2 EXT1
5 bone disease 29.8 EXT2 EXT1
6 metachondromatosis 29.7 EXT2 EXT1
7 chondrosarcoma 29.7 EXT2 EXT1
8 multiple enchondromatosis, maffucci type 29.5 EXT2 EXT1
9 dysplasia epiphysealis hemimelica 29.5 EXT2 EXT1
10 exostosis 29.4 POMGNT2 EXT2 EXT1
11 enchondromatosis, multiple, ollier type 29.4 EXT2 EXT1
12 osteochondrodysplasia 29.2 EXT2 EXT1
13 exostoses, multiple, type ii 11.4
14 exostoses, multiple, type iii 11.3
15 potocki-shaffer syndrome 11.1
16 calcinosis 10.2
17 chondroma 10.2
18 substance abuse 10.2
19 osteoarthritis 10.2
20 scoliosis 10.1
21 quadriplegia 10.1
22 frozen shoulder 10.1
23 pneumothorax 10.1
24 bursitis 10.1
25 spinal stenosis 10.1
26 neuropathy 10.1
27 trichorhinophalangeal syndrome 10.1
28 aneurysm 10.1
29 neurofibromatosis, type i 10.1
30 peripheral dysostosis 10.1
31 dysostosis 10.1
32 achalasia 10.1
33 polyposis, intestinal, with multiple exostoses 10.1
34 down syndrome 10.1
35 osteogenic sarcoma 10.1
36 ataxia and polyneuropathy, adult-onset 10.1
37 hemolytic anemia 10.1
38 neurofibromatosis 10.1
39 hemophilia 10.1
40 dwarfism 10.1
41 spinal cord injury 10.1
42 enchondroma 10.1
43 alcohol dependence 10.1
44 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.1
45 cervical cancer 10.1
46 coronary heart disease 1 10.1
47 mental depression 10.1
48 lipid metabolism disorder 10.1
49 acute myocardial infarction 10.1
50 pik3ca-related overgrowth syndrome 10.1

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



Diseases related to Hereditary Multiple Osteochondromas
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Symptoms & Phenotypes for Hereditary Multiple Osteochondromas

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Sources

Drugs & Therapeutics for Hereditary Multiple Osteochondromas

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Drugs for Hereditary Multiple Osteochondromas (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 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 Enrolling by invitation NCT04133285
5 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
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 Hereditary Multiple Osteochondromas

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Genetic Tests for Hereditary Multiple Osteochondromas

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Anatomical Context for Hereditary Multiple Osteochondromas

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MalaCards organs/tissues related to Hereditary Multiple Osteochondromas:

40
Bone, Spinal Cord, Myeloid, Breast, Heart, Lung, Thyroid
Sources

Publications for Hereditary Multiple Osteochondromas

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Articles related to Hereditary Multiple Osteochondromas:

(show top 50) (show all 521)
# Title Authors PMID Year
1
A genotype-phenotype study of hereditary multiple exostoses in forty-six Chinese patients. 25 61 6
29126381 2017
2
The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate. 25 6 61
10639137 2000
3
Analysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromas. 6 25
29529714 2018
4
Genotype-phenotype correlation study in 529 patients with multiple hereditary exostoses: identification of "protective" and "risk" factors. 25 6
22258776 2011
5
Breakpoint characterization of large deletions in EXT1 or EXT2 in 10 multiple osteochondromas families. 25 6
21703028 2011
6
Tiling resolution array-CGH shows that somatic mosaic deletion of the EXT gene is causative in EXT gene mutation negative multiple osteochondromas patients. 25 6
21280143 2011
7
Genetic models of osteochondroma onset and neoplastic progression: evidence for mechanisms alternative to EXT genes inactivation. 6 25
20418910 2010
8
Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb). 6 25
19810120 2009
9
Reevaluation of a genetic model for the development of exostosis in hereditary multiple exostosis. 6 25
12239711 2002
10
A Novel EXT1 Mutation Identified in a Family with Multiple Osteochondromas. 61 6
29989442 2019
11
Heterogeneous spectrum of EXT gene mutations in Chinese patients with hereditary multiple osteochondromas. 6 61
30334991 2018
12
Genetic screening of EXT1 and EXT2 in Cypriot families with hereditary multiple osteochondromas. 61 6
26690531 2015
13
Identification of a rare case of intra-articular osteochondroma manifesting as three loose bodies in a patient with hereditary multiple osteochondromas: A case report. 61 6
26622573 2015
14
Hereditary multiple exostoses and solitary osteochondroma associated with growth hormone deficiency: to treat or not to treat? 6 61
26239617 2015
15
A patient with novel mutations causing MEN1 and hereditary multiple osteochondroma. 6 61
26515642 2015
16
Loss of function in heparan sulfate elongation genes EXT1 and EXT 2 results in improved nitric oxide bioavailability and endothelial function. 61 6
25468659 2014
17
Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses. 61 6
24532482 2014
18
Clinical characteristics of hereditary multiple exostoses: a retrospective study of mainland chinese cases in recent 23 years. 61 6
24496678 2014
19
Carriers of loss-of-function mutations in EXT display impaired pancreatic beta-cell reserve due to smaller pancreas volume. 61 6
25541963 2014
20
Novel mutations of EXT1 and EXT2 genes among families and sporadic cases with multiple exostoses. 61 6
21039224 2010
21
A novel EXT1 gene mutation causing hereditary multiple exostoses in a Chinese pedigree. 6 61
20025490 2010
22
Identification of four novel EXT1 and EXT2 mutations in five Chinese pedigrees with hereditary multiple exostoses. 6 61
19839753 2009
23
Genetic analysis of hereditary multiple exostoses in Tunisian families: a novel frame-shift mutation in the EXT1 gene. 61 6
18330718 2009
24
One third of Japanese patients with multiple osteochondromas may have mutations in genes other than EXT1 or EXT2. 61 6
18976157 2008
25
Evaluation of the anatomic burden of patients with hereditary multiple exostoses. 6 61
17589361 2007
26
A combined analytical approach reveals novel EXT1/2 gene mutations in a large cohort of Italian multiple osteochondromas patients. 6 61
17301954 2007
27
An optimized DHPLC protocol for molecular testing of the EXT1 and EXT2 genes in hereditary multiple osteochondromas. 61 6
16283885 2005
28
Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas. 6 61
16088908 2005
29
Two-color multiplex ligation-dependent probe amplification: detecting genomic rearrangements in hereditary multiple exostoses. 61 6
15221792 2004
30
Mutation screening of the EXT genes in patients with hereditary multiple exostoses in Taiwan. 61 6
12490068 2002
31
Ext-mutation analysis in Italian sporadic and hereditary osteochondromas. 6 61
11668521 2001
32
Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity. 61 6
11391482 2001
33
Genotype-phenotype correlation in hereditary multiple exostoses. 6 61
11432960 2001
34
Mutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostoses. 6 61
11170095 2001
35
Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes. 61 6
11169766 2001
36
Association of EXT1 and EXT2, hereditary multiple exostoses gene products, in Golgi apparatus. 6 61
10679296 2000
37
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. 61 6
10713884 2000
38
Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes. 61 6
10679937 2000
39
The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate. 6 61
9620772 1998
40
Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses. 61 6
9463333 1998
41
Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses. 61 6
9521425 1998
42
Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses. 6 61
9326317 1997
43
Identification of novel mutations in the human EXT1 tumor suppressor gene. 61 6
9150727 1997
44
Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies. 6 61
8981950 1997
45
Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1). 6 61
7550340 1995
46
Surgical Management of Thoracic Multiple Exostoses. 25 61
31589851 2020
47
Late presentation of spinal cord compression in hereditary multiple exostosis: case reports and review of the literature. 25 61
31695813 2019
48
Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants. 25 61
30806661 2019
49
Identification of risk factors affecting bone formation in gradual ulnar lengthening in children with hereditary multiple exostoses: A retrospective study. 25 61
30702592 2019
50
Expanding the phenome and variome of skeletal dysplasia. 6
29620724 2018
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Variations for Hereditary Multiple Osteochondromas

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ClinVar genetic disease variations for Hereditary Multiple Osteochondromas:

6 (show top 50) (show all 309)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EXT1 NM_000127.2(EXT1):c.1019G>T (p.Arg340Leu) SNV Pathogenic 2495 rs119103287 GRCh37: 8:118849384-118849384
GRCh38: 8:117837145-117837145
2 EXT1 NM_000127.2(EXT1):c.1016G>A (p.Gly339Asp) SNV Pathogenic 2498 rs119103288 GRCh37: 8:118849387-118849387
GRCh38: 8:117837148-117837148
3 EXT1 NM_000127.3(EXT1):c.1018C>T SNV Pathogenic 2500 rs119103290 GRCh37: 8:118849385-118849385
GRCh38: 8:117837146-117837146
4 EXT1 NM_000127.2(EXT1):c.1056+2T>A SNV Pathogenic 456059 rs1554580142 GRCh37: 8:118849345-118849345
GRCh38: 8:117837106-117837106
5 EXT1 NM_000127.3(EXT1):c.536_537AG[1] (p.Leu181fs) Microsatellite Pathogenic 265339 rs886039486 GRCh37: 8:119122747-119122748
GRCh38: 8:118110508-118110509
6 EXT1 NM_000127.2(EXT1):c.1401del (p.Tyr468fs) Deletion Pathogenic 456061 rs1554579004 GRCh37: 8:118834720-118834720
GRCh38: 8:117822481-117822481
7 EXT1 NM_000127.2(EXT1):c.1056+3A>C SNV Pathogenic 456060 rs1554580140 GRCh37: 8:118849344-118849344
GRCh38: 8:117837105-117837105
8 EXT1 NM_000127.2(EXT1):c.598_669del (p.Trp200_Thr223del) Deletion Pathogenic 456064 rs1554601502 GRCh37: 8:119122617-119122688
GRCh38: 8:118110378-118110449
9 EXT1 NM_000127.2(EXT1):c.1431dup (p.Ser478fs) Duplication Pathogenic 456062 rs1554578798 GRCh37: 8:118832019-118832020
GRCh38: 8:117819780-117819781
10 EXT1 NM_000127.2(EXT1):c.644_647dup (p.Lys218fs) Duplication Pathogenic 526297 rs1554601507 GRCh37: 8:119122638-119122639
GRCh38: 8:118110399-118110400
11 EXT1 NM_000127.2(EXT1):c.369_370delinsT (p.Lys123fs) Indel Pathogenic 566150 rs1563659571 GRCh37: 8:119122916-119122917
GRCh38: 8:118110677-118110678
12 EXT1 NM_000127.2(EXT1):c.540_541TC[1] (p.Leu181fs) Microsatellite Pathogenic 566357 rs1563659474 GRCh37: 8:119122743-119122744
GRCh38: 8:118110504-118110505
13 EXT1 NM_000127.2(EXT1):c.1576A>T (p.Lys526Ter) SNV Pathogenic 566580 rs1563569983 GRCh37: 8:118830730-118830730
GRCh38: 8:117818491-117818491
14 EXT1 NM_000127.2(EXT1):c.1316C>G (p.Ser439Ter) SNV Pathogenic 568116 rs1563571318 GRCh37: 8:118834805-118834805
GRCh38: 8:117822566-117822566
15 EXT1 NM_000127.2(EXT1):c.282dup (p.Gly95fs) Duplication Pathogenic 568204 rs1563659649 GRCh37: 8:119123003-119123004
GRCh38: 8:118110764-118110765
16 EXT1 NM_000127.2(EXT1):c.1053_1056+1del Deletion Pathogenic 569431 rs1563575654 GRCh37: 8:118849346-118849350
GRCh38: 8:117837107-117837111
17 EXT1 NM_000127.2(EXT1):c.798del (p.Phe266fs) Deletion Pathogenic 569738 rs1563659352 GRCh37: 8:119122488-119122488
GRCh38: 8:118110249-118110249
18 EXT1 NM_000127.2(EXT1):c.1884-1G>A SNV Pathogenic 569935 rs1131691623 GRCh37: 8:118817133-118817133
GRCh38: 8:117804894-117804894
19 EXT1 NM_000127.2(EXT1):c.1810G>T (p.Glu604Ter) SNV Pathogenic 488827 rs1554657437 GRCh37: 8:118819529-118819529
GRCh38: 8:117807290-117807290
20 EXT1 NM_000127.2(EXT1):c.1065C>A (p.Cys355Ter) SNV Pathogenic 570990 rs11546829 GRCh37: 8:118847782-118847782
GRCh38: 8:117835543-117835543
21 EXT1 NM_000127.2(EXT1):c.854dup (p.His285fs) Duplication Pathogenic 423050 rs1554601476 GRCh37: 8:119122431-119122432
GRCh38: 8:118110192-118110193
22 EXT1 NM_000127.2(EXT1):c.988_989insTC (p.Asn330fs) Insertion Pathogenic 572097 rs1563575697 GRCh37: 8:118849414-118849415
GRCh38: 8:117837175-117837176
23 EXT1 NM_000127.2(EXT1):c.1468dup (p.Leu490fs) Duplication Pathogenic 279804 rs886039355 GRCh37: 8:118831982-118831983
GRCh38: 8:117819743-117819744
24 EXT1 NM_000127.2(EXT1):c.840G>C (p.Arg280Ser) SNV Pathogenic 576662 rs1563659325 GRCh37: 8:119122446-119122446
GRCh38: 8:118110207-118110207
25 EXT1 NM_000127.2(EXT1):c.1469del (p.Leu490fs) Deletion Pathogenic 265131 rs886039356 GRCh37: 8:118831982-118831982
GRCh38: 8:117819743-117819743
26 EXT1 NM_000127.2(EXT1):c.103del (p.Ser35fs) Deletion Pathogenic 580698 rs1563659821 GRCh37: 8:119123183-119123183
GRCh38: 8:118110944-118110944
27 EXT1 NM_000127.2(EXT1):c.2004del (p.Pro669fs) Deletion Pathogenic 581676 rs1563872934 GRCh37: 8:118817012-118817012
GRCh38: 8:117804773-117804773
28 EXT1 NM_000127.2(EXT1):c.1056+1G>A SNV Pathogenic 583370 rs886039354 GRCh37: 8:118849346-118849346
GRCh38: 8:117837107-117837107
29 EXT1 NC_000008.11:g.(?_117830210)_(117837221_?)del Deletion Pathogenic 583827 GRCh37: 8:118842449-118849460
GRCh38: 8:117830210-117837221
30 EXT1 NM_000127.2(EXT1):c.533_534dup (p.Gln179fs) Duplication Pathogenic 526299 rs1554601525 GRCh37: 8:119122751-119122752
GRCh38: 8:118110512-118110513
31 EXT1 NM_000127.2(EXT1):c.2101C>T (p.Arg701Ter) SNV Pathogenic 488691 rs1363815113 GRCh37: 8:118812091-118812091
GRCh38: 8:117799852-117799852
32 EXT1 NM_000127.2(EXT1):c.1417+2T>A SNV Pathogenic 526300 rs1554578992 GRCh37: 8:118834702-118834702
GRCh38: 8:117822463-117822463
33 EXT1 NM_000127.2(EXT1):c.1036A>G (p.Arg346Gly) SNV Pathogenic 526301 rs1554580147 GRCh37: 8:118849367-118849367
GRCh38: 8:117837128-117837128
34 EXT1 NM_000127.2(EXT1):c.963-2A>G SNV Pathogenic 526302 rs1554580162 GRCh37: 8:118849442-118849442
GRCh38: 8:117837203-117837203
35 EXT1 NM_000127.2(EXT1):c.651_663del (p.Lys218fs) Deletion Pathogenic 526303 rs1554601504 GRCh37: 8:119122623-119122635
GRCh38: 8:118110384-118110396
36 EXT1 NM_000127.2(EXT1):c.218del (p.Asn73fs) Deletion Pathogenic 526304 rs1554601568 GRCh37: 8:119123068-119123068
GRCh38: 8:118110829-118110829
37 EXT1 NM_000127.2(EXT1):c.1019G>A (p.Arg340His) SNV Pathogenic 265129 rs119103287 GRCh37: 8:118849384-118849384
GRCh38: 8:117837145-117837145
38 EXT1 NM_000127.2(EXT1):c.838A>G (p.Arg280Gly) SNV Pathogenic 526305 rs1554601483 GRCh37: 8:119122448-119122448
GRCh38: 8:118110209-118110209
39 EXT1 NM_000127.2(EXT1):c.846del (p.Leu283fs) Deletion Pathogenic 526306 rs1554601481 GRCh37: 8:119122440-119122440
GRCh38: 8:118110201-118110201
40 EXT1 NM_000127.2(EXT1):c.2104C>T (p.Gln702Ter) SNV Pathogenic 526307 rs1554656266 GRCh37: 8:118812088-118812088
GRCh38: 8:117799849-117799849
41 EXT1 NM_000127.2(EXT1):c.279C>G (p.Tyr93Ter) SNV Pathogenic 526308 rs1227875610 GRCh37: 8:119123007-119123007
GRCh38: 8:118110768-118110768
42 EXT1 NM_000127.2(EXT1):c.1418-2A>G SNV Pathogenic 448898 rs1554578802 GRCh37: 8:118832035-118832035
GRCh38: 8:117819796-117819796
43 EXT1 NM_000127.2(EXT1):c.1633-34_1670del Deletion Pathogenic 456063 rs1554657940 GRCh37: 8:118825163-118825234
GRCh38: 8:117812924-117812995
44 EXT1 NM_000127.2(EXT1):c.2059del (p.Ser687fs) Deletion Pathogenic 526309 rs1554656288 GRCh37: 8:118812133-118812133
GRCh38: 8:117799894-117799894
45 EXT1 NC_000008.11:g.(?_117799692)_(117837221_?)del Deletion Pathogenic 526310 GRCh37: 8:118811931-118849460
GRCh38: 8:117799692-117837221
46 EXT1 NM_000127.2(EXT1):c.957T>A (p.Tyr319Ter) SNV Pathogenic 638993 rs1586279297 GRCh37: 8:119122329-119122329
GRCh38: 8:118110090-118110090
47 EXT1 NM_000127.2(EXT1):c.1057-2A>G SNV Pathogenic 640558 rs1587003662 GRCh37: 8:118847792-118847792
GRCh38: 8:117835553-117835553
48 EXT1 NM_000127.2(EXT1):c.1417+1G>A SNV Pathogenic 642160 rs1586997796 GRCh37: 8:118834703-118834703
GRCh38: 8:117822464-117822464
49 EXT1 NM_000127.2(EXT1):c.642_663del (p.Met215fs) Deletion Pathogenic 642724 rs1586279544 GRCh37: 8:119122623-119122644
GRCh38: 8:118110384-118110405
50 EXT1 NM_000127.2(EXT1):c.962+1G>A SNV Pathogenic 642916 rs886039353 GRCh37: 8:119122323-119122323
GRCh38: 8:118110084-118110084

Cosmic variations for Hereditary Multiple Osteochondromas:

9
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)		 Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM90465396 IDH1 bone,rib,chondrosarcoma,NS c.394C>T p.R132C 2:208248389-208248389 3
2 COSM103033796 IDH1 bone,rib,chondrosarcoma,NS c.394C>T p.R132C 2:208248389-208248389 3
3 COSM112752272 IDH1 bone,rib,chondrosarcoma,NS c.394C>T p.R132C 2:208248389-208248389 3
Sources

Expression for Hereditary Multiple Osteochondromas

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

Pathways for Hereditary Multiple Osteochondromas

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Pathways related to Hereditary Multiple Osteochondromas according to KEGG:

36
# Name Kegg Source Accession
1 Glycosaminoglycan biosynthesis - heparan sulfate / heparin hsa00534

Pathways related to Hereditary Multiple Osteochondromas according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Mesodermal Commitment Pathway 1
Show member pathways
 11.44 EXT2 EXT1
2
heparan sulfate biosynthesis 1
Show member pathways
 10.46 EXT2 EXT1
Sources

GO Terms for Hereditary Multiple Osteochondromas

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.13 POMGNT2 EXT2 EXT1
2 endoplasmic reticulum membrane GO:0005789 8.8 POMGNT2 EXT2 EXT1

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 ossification GO:0001503 9.57 EXT2 EXT1
2 regulation of blood pressure GO:0008217 9.56 EXT2 EXT1
3 gene expression GO:0010467 9.55 EXT2 EXT1
4 glycosaminoglycan biosynthetic process GO:0006024 9.54 EXT2 EXT1
5 cellular response to fibroblast growth factor stimulus GO:0044344 9.52 EXT2 EXT1
6 vasodilation GO:0042311 9.51 EXT2 EXT1
7 protein glycosylation GO:0006486 9.5 POMGNT2 EXT2 EXT1
8 sulfation GO:0051923 9.49 EXT2 EXT1
9 sodium ion homeostasis GO:0055078 9.48 EXT2 EXT1
10 heart contraction GO:0060047 9.46 EXT2 EXT1
11 heparan sulfate proteoglycan biosynthetic process GO:0015012 9.43 EXT2 EXT1
12 heparin biosynthetic process GO:0030210 9.4 EXT2 EXT1
13 multicellular organismal water homeostasis GO:0050891 9.37 EXT2 EXT1
14 heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process GO:0015014 9.26 EXT2 EXT1
15 endochondral bone morphogenesis GO:0060350 9.16 EXT2 EXT1
16 fluid transport GO:0042044 8.96 EXT2 EXT1
17 cellular polysaccharide biosynthetic process GO:0033692 8.62 EXT2 EXT1

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

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.58 POMGNT2 EXT2 EXT1
2 transferase activity, transferring glycosyl groups GO:0016757 9.5 POMGNT2 EXT2 EXT1
3 protein heterodimerization activity GO:0046982 9.43 EXT2 EXT1
4 glucuronosyltransferase activity GO:0015020 9.37 EXT2 EXT1
5 glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity GO:0050508 9.26 EXT2 EXT1
6 N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity GO:0050509 9.16 EXT2 EXT1
7 heparan sulfate N-acetylglucosaminyltransferase activity GO:0042328 8.96 EXT2 EXT1
8 acetylglucosaminyltransferase activity GO:0008375 8.8 POMGNT2 EXT2 EXT1
Sources

Sources for Hereditary Multiple Osteochondromas

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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