Hereditary Multiple Osteochondromas disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Rare diseases Cancer diseases Genetic diseases
Anatomical: Neuronal diseases Bone diseases

See all MalaCards categories (disease lists)

External Ids:

UMLS ⁷¹ C0015306 C0206641

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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

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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:

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Symptoms & Phenotypes for Hereditary Multiple Osteochondromas

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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

Synonyms:

(13-cis)-Retinoate

(13-CIS)-RETINOIC ACID

(2E,4E,6E,8E)-3,7-DIMETHYL-9-(2,6,6-TRIMETHYL-1-CYCLOHEXENYL)NONA-2,4,6,8-TETRAENOIC ACID

(2E,4E,6E,8E)-3,7-Dimethyl-9-(2,6,6-trimethylcyclohexen-1-yl)nona-2,4,6,8-tetraenoate

(2Z,4E,6E,8E)-3,7-DIMETHYL-9-(2,6,6-TRIMETHYLCYCLOHEX-1-EN-1-YL)NONA-2,4,6,8-TETRAENOIC ACID

(7E,9E,11E,13Z)-Retinoate

(7E,9E,11E,13Z)-RETINOIC ACID

(all-e)-3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraenoate

(all-e)-3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraenoic acid

13 cis Retinoic acid

13 CIS-RETINOIC ACID

13-cis-Retinoate

13-cis-Retinoate,isotretinoin

13-CIS-RETINOIC ACID

13-CIS-VITAMIN A ACID

13-RA

3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraenoate

3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraenoic acid

3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexene-1-yl)-2,4,6,8-nonatetraenoate (ecl)

3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexene-1-yl)-2,4,6,8-nonatetraenoic acid (ecl)

Aberel

ABSORICA

ACCUTANE

Acid, all-trans-retinoic

Acid, beta-all-trans-retinoic

Acid, retinoic

Acid, trans-retinoic

Acid, vitamin a

Acide retinoique

ACIDE RETINOIQUE (FRENCH)

ACIDE RETINOIQUE (FRENCH) (DSL)

ACTICIN

AGN 100335

Airol

Aknefug

Aknoten

all trans Retinoic acid

all trans-Retinoic acid

all-(e)-Retinoate

all-(e)-Retinoic acid

all-trans-beta-Retinoate

all-trans-beta-Retinoic acid

all-trans-b-Retinoate

all-trans-b-Retinoic acid

all-trans-Retinoate

all-trans-Retinoic acid

ALL-TRANS-RETINOIC ACID (ATRA)

all-trans-retinoic acid (ATRA)|Altreno® (0.05% lotion)|Avita® (0.025% gel)|Renova® (0.02% cream)

all-trans-Tretinoin

all-trans-Vitamin a acid

all-trans-Vitamin a1 acid

all-trans-Β-retinoate

all-trans-Β-retinoic acid

ALTRENO

AMNESTEEM

ATRA

Atra-IV

Atralin

Avita

beta all trans Retinoic acid

beta-all-trans-Retinoic acid

beta-Retinoate

beta-Retinoic acid

b-Retinoate

b-Retinoic acid

CIP-isotretinoin

CIS-RA

cis-Retinoate

CIS-RETINOIC ACID

CLARAVIS

Dermairol

Eudyna

ISOTRETINOIN

Isotretinoin zinc salt, 13 cis isomer

Isotretinoin zinc salt, 13-cis-isomer

Isotretinoina

Isotretinoína

Isotretinoine

Isotrétinoine

Isotretinoino

Isotretinoinum

ISOTREX

Lsotretinoin

MYORISAN

NEOVITAMIN A ACID

NSC-122758

PAT-001

Potassium salt, tretinoin

Renova

Retin a

Retin-a

Retin-a micro

RETIN-A-MICRO

Retinoate

Retinoic acid

RETINOIC ACID 13-CIS-FORM

Retionic acid

Retisol-a

Ro 1-5488

RO-43780

RO-4-3780

Roaccutan

ROACCUTANE

Roacutan

Salt, tretinoin potassium

Salt, tretinoin sodium

Salt, tretinoin zinc

Sodium salt, tretinoin

Solage

SOTRET

Stieva-a

Stieva-a Forte

Teriosal

trans Retinoic acid

trans-Retinoate

trans-Retinoic acid

Tretin m

Tretinoin

Tretinoin potassium salt

Tretinoin sodium salt

Tretinoin zinc salt

TRETINOIN、ATRA

Tretinoina

Trétinoïne

TRETINOINE (FRENCH)

TRETINOINE (FRENCH) (EINECS)

Tretinoinum

Tretin-X

Tri-Luma

Vesanoid

Vitamin a acid

Vitinoin

ZENATANE

Zinc salt, tretinoin

Β-retinoate

Β-retinoic acid

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

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Genetic Tests for Hereditary Multiple Osteochondromas

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Anatomical Context for Hereditary Multiple Osteochondromas

Organs/tissues related to Hereditary Multiple Osteochondromas:

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

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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	Fusco C...Castori M	30806661	2019
2	Analysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromas. ⁶² ²⁴ ⁵	Santos SCL...Sollaci C	29529714	2018
3	A genotype-phenotype study of hereditary multiple exostoses in forty-six Chinese patients. ⁶² ²⁴ ⁵	Li Y...Yu T	29126381	2017
4	Genotype-phenotype correlation study in 529 patients with multiple hereditary exostoses: identification of "protective" and "risk" factors. ⁶² ²⁴ ⁵	Pedrini E...Sangiorgi L	22258776	2011
5	Genetic models of osteochondroma onset and neoplastic progression: evidence for mechanisms alternative to EXT genes inactivation. ⁶² ²⁴ ⁵	Zuntini M...Sangiorgi L	20418910	2010
6	Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb). ⁶² ²⁴ ⁵	Jennes I...Wuyts W	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	McCormick C...Tufaro F	10639137	2000
8	Heterogeneous spectrum of EXT gene mutations in Chinese patients with hereditary multiple osteochondromas. ⁶² ⁵	Li Y...Fu Q	30334991	2018
9	Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas. ⁶² ⁵	Ishimaru D...Matsumoto K	26961984	2016
10	Genetic screening of EXT1 and EXT2 in Cypriot families with hereditary multiple osteochondromas. ⁶² ⁵	Tanteles GA...Christophidou-Anastasiadou V	26690531	2015
11	Hereditary multiple exostoses and solitary osteochondroma associated with growth hormone deficiency: to treat or not to treat? ⁶² ⁵	Bozzola M...Sangiorgi L	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	Mooij HL...Nieuwdorp M	25468659	2014
13	A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG. ⁶² ⁵	Delgado MA...Asteggiano CG	25230886	2014
14	Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses. ⁶² ⁵	Jamsheer A...Latos-Bielenska A	24532482	2014
15	Clinical characteristics of hereditary multiple exostoses: a retrospective study of mainland chinese cases in recent 23 years. ⁶² ⁵	Guo XL...Liu HG	24496678	2014
16	Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas. ⁶² ⁵	Sarrion P...Grinberg D	23439489	2013
17	Identification of four novel EXT1 and EXT2 mutations in five Chinese pedigrees with hereditary multiple exostoses. ⁶² ⁵	Li Y...Fu Q	19839753	2009
18	Genetic analysis of hereditary multiple exostoses in Tunisian families: a novel frame-shift mutation in the EXT1 gene. ⁶² ⁵	Sfar S...Chouchane L	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	Jennes I...Wuyts W	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	Lonie L...Ragoussis J	17041877	2006
21	An optimized DHPLC protocol for molecular testing of the EXT1 and EXT2 genes in hereditary multiple osteochondromas. ⁶² ⁵	Wuyts W...Vits L	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	Vink GR...Bakker E	15586175	2005
23	Two-color multiplex ligation-dependent probe amplification: detecting genomic rearrangements in hereditary multiple exostoses. ⁶² ⁵	White SJ...den Dunnen JT	15221792	2004
24	Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity. ⁶² ⁵	Cheung PK...Duncan G	11391482	2001
25	Genotype-phenotype correlation in hereditary multiple exostoses. ⁶² ⁵	Francannet C...Legeai-Mallet L	11432960	2001
26	Mutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostoses. ⁶² ⁵	Seki H...Fukushima Y	11170095	2001
27	Association of EXT1 and EXT2, hereditary multiple exostoses gene products, in Golgi apparatus. ⁶² ⁵	Kobayashi S...Shirasawa T	10679296	2000
28	Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes. ⁶² ⁵	Wuyts W...Van Hul W	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	Dobson-Stone C...Monaco AP	10713884	2000
30	Mutation analysis of hereditary multiple exostoses in the Chinese. ⁶² ⁵	Xu L...Deng HX	10480354	1999
31	The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate. ⁶² ⁵	McCormick C...Tufaro F	9620772	1998
32	Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses. ⁶² ⁵	Wuyts W...Willems PJ	9463333	1998
33	Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses. ⁶² ⁵	Raskind WH...Houck J	9521425	1998
34	Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses. ⁶² ⁵	Philippe C...Monaco AP	9326317	1997
35	Identification of novel mutations in the human EXT1 tumor suppressor gene. ⁶² ⁵	Wells DE...Wagner MJ	9150727	1997
36	Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies. ⁶² ⁵	Hecht JT...Wells D	8981950	1997
37	Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1). ⁶² ⁵	Ahn J...Wells DE	7550340	1995
38	Surgical Management of Thoracic Multiple Exostoses. ⁶² ²⁴	Kanthasamy S...Coonar AS	31589851	2020
39	Whole-body MRI in assessing malignant transformation in multiple hereditary exostoses and enchondromatosis: audit results and literature review. ⁶² ²⁴	Jurik AG...Mortensen MM	31273432	2020
40	Spinal Screening MRI Trends in Patients with Multiple Hereditary Exostoses: National Survey. ⁶² ²⁴	Montgomery BK...Frick S	32010535	2019
41	Late presentation of spinal cord compression in hereditary multiple exostosis: case reports and review of the literature. ⁶² ²⁴	Gigi R...Fernandes JA	31695813	2019
42	Knee locked in flexion: incarcerated semitendinosus tendon around a proximal tibial osteochondroma. ⁶² ²⁴	Andrews K...Tank J	30788088	2019
43	Is Routine Spine MRI Necessary in Skeletally Immature Patients With MHE? Identifying Patients at Risk for Spinal Osteochondromas. ⁶² ²⁴	Jackson TJ...Arkader A	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	Li Y...Wang Z	30702592	2019
45	Osteochondroma of the scapula associated with a subclavian artery pseudoaneurysm: Case report. ⁶² ²⁴	Oljaca A...Leithner A	30675356	2019
46	Expanding the phenome and variome of skeletal dysplasia. ⁵	Maddirevula S...Alkuraya FS	29620724	2018
47	Chondrosarcoma transformation in hereditary multiple exostoses: A systematic review and clinical and cost-effectiveness of a proposed screening model. ⁶² ²⁴	Fei L...Porter DE	30591865	2018
48	The pathogenic roles of heparan sulfate deficiency in hereditary multiple exostoses. ⁶² ²⁴	Pacifici M	29277722	2018
49	Hereditary multiple exostoses of the ribs as an uncommon cause of pneumothorax: A case report. ⁶² ²⁴	Dumazet A...Perotin JM	30170381	2018
50	Multiple Hereditary Exostoses with Tetraparesis Due To Cervical Spine Osteochondroma. ⁶² ²⁴	Akhaddar A...Rharrassi I	29783013	2018

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Genes for Hereditary Multiple Osteochondromas

Genes related to Hereditary Multiple Osteochondromas (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	EXT1	Exostosin Glycosyltransferase 1	Protein Coding	433.28	Pathogenic ⁵ Likely pathogenic ⁵ GeneCards inferred via : Publications (show sections)	7550340 8981950 9150727 (more) 9326317 9463333 9521425 9620772 10639137 10679296 10679937 10713884 11170095 11391482 11432960 15221792 15586175 16199547 16283885 17041877 18165274 18330718 19810120 19819120 19839753 20418910 21499719 22258776 22382802 23439489 24496678 24532482 25230886 25468659 25525159 26239617 26690531 26961984 28604967 29126381 29529714 29620724 30334991 30806661 10480354
2	EXT2	Exostosin Glycosyltransferase 2	Protein Coding	8.34	GeneCards inferred via : Publications (show sections)
3	POMGNT2	Protein O-Linked Mannose N-Acetylglucosaminyltransferase 2 (Beta 1,4-)	Protein Coding	7.3	GeneCards inferred via : Publications (show sections)

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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

Sources

Expression for Hereditary Multiple Osteochondromas

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

Sources

Pathways for Hereditary Multiple Osteochondromas

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

#	Super pathways	Score	Top Affiliating Genes
1	Chondroitin sulfate/dermatan sulfate metabolism ⁶⁶ Show member pathways A tetrasaccharide linker sequence is required for GAG synthesis ⁶⁶ Chondroitin sulfate biosynthesis ⁶⁶ CS/DS degradation ⁶⁶ Defective B3GALT6 causes EDSP2 and SEMDJL1 ⁶⁶ Defective B3GAT3 causes JDSSDHD ⁶⁶ Defective B4GALT7 causes EDS, progeroid type ⁶⁶ Defective CHST14 causes EDS, musculocontractural type ⁶⁶ Defective CHST3 causes SEDCJD ⁶⁶ Defective CHSY1 causes TPBS ⁶⁶ Dermatan sulfate biosynthesis ⁶⁶ dermatan sulfate biosynthesis (late stages) ⁶¹ Diseases associated with glycosaminoglycan metabolism ⁶⁶	11.65	EXT2 EXT1
2	Mesodermal commitment pathway ⁷⁴	11.32	EXT2 EXT1
3	Defective EXT2 causes exostoses 2 ⁶⁶ Show member pathways Defective EXT1 causes exostoses 1, TRPS2 and CHDS ⁶⁶ Glypican pathway ⁶¹ HS-GAG degradation ⁶⁶ Proteoglycan syndecan-mediated signaling events ⁶¹	10.71	EXT2 EXT1
4	Proteoglycan biosynthesis ⁷⁴	9.88	EXT2 EXT1

Sources

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

Sources for Hereditary Multiple Osteochondromas

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: HRD104 MIFTS: 43	Hereditary Multiple Osteochondromas Categories: Bone diseases, Cancer diseases, Genetic diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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