EXT1
MCID: EXS019
MIFTS: 58

Exostoses, Multiple, Type I (EXT1)

Categories: Bone diseases, Cancer diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Rare diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Exostoses, Multiple, Type I

MalaCards integrated aliases for Exostoses, Multiple, Type I:

Name: Exostoses, Multiple, Type I 57
Exostoses, Multiple, Type 1 57 19 75 28 12 5
Multiple Cartilaginous Exostoses 57 58 33
Multiple Osteochondromas 57 58 33
Diaphyseal Aclasis 57 5 33
Ext1 57 73 75
Hereditary Multiple Exostoses 19 71
Bessel-Hagen Disease 58 33
Osteochondromatosis 57 71
Exostoses, Multiple 75 38
Glucuronyltransferase/n-Acetylglucosaminyltransferase Deficiency 33
Hereditary Multiple Osteochondromas 19
Hereditary Multiple Exostoses 1 73
Hereditary Multiple Exostosis 19
Multiple Congenital Exostoses 33
Osteochondromas, Multiple 38
Multiple Exostoses 19
Enchondromatosis 71
Ext1/ext2-Cdg 33
Ext 57
Hmo 19

Characteristics:


Inheritance:

Exostoses, Multiple, Type I: Autosomal dominant 57
Multiple Osteochondromas: Autosomal dominant 58

Prevelance:

Multiple Osteochondromas: >1/1000 (Specific population) 1-9/1000000 (United Kingdom) 1-9/100000 (Netherlands, Europe, United States) 58

Age Of Onset:

Multiple Osteochondromas: Childhood 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
more severe in males than in females
onset early childhood
lesions continue to grow until epiphyseal plate closure


Classifications:

Orphanet: 58  
Rare bone diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Summaries for Exostoses, Multiple, Type I

OMIM®: 57 Multiple hereditary exostoses (EXT) is an autosomal dominant disorder characterized by multiple projections of bone capped by cartilage, most numerous in the metaphyses of long bones, but also occurring on the diaphyses of long bones. Flat bones, vertebrae, and the ribs may also be affected, but the skull is usually not involved. Deformity of the legs, forearms (resembling Madelung deformity), and hands is frequent (Peterson, 1989). Two conditions in which multiple exostoses occur are metachondromatosis (156250) and the Langer-Giedion syndrome (LGS; 150230); the latter condition is also known as trichorhinophalangeal syndrome type II. Furthermore, exostosis-like lesions occur with fibrodysplasia ossificans progressiva (FOP; 135100), occipital horn syndrome (304150), and the adult stage of hereditary hypophosphatemia (see 307800); these exostoses are located at sites of tendon and muscle attachment. A relatively rare variant of the supracondylar process, on the anteromedial surface of the distal humerus, can be confused with an exostosis; the variant is said to be present in about 1% of persons of European descent (Silverman, 1985). (133700) (Updated 08-Dec-2022)

MalaCards based summary: Exostoses, Multiple, Type I, also known as exostoses, multiple, type 1, is related to hereditary multiple exostoses and hereditary multiple osteochondromas, and has symptoms including pain An important gene associated with Exostoses, Multiple, Type I 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 bone, spinal cord and endothelial, and related phenotypes are osteochondroma and short stature

UniProtKB/Swiss-Prot: 73 EXT is a genetically heterogeneous bone disorder caused by genes segregating on human chromosomes 8, 11, and 19 and designated EXT1, EXT2 and EXT3 respectively. EXT is a dominantly inherited skeletal disorder primarily affecting endochondral bone during growth. The disease is characterized by formation of numerous cartilage-capped, benign bone tumors (osteocartilaginous exostoses or osteochondromas) that are often accompanied by skeletal deformities and short stature. In a small percentage of cases exostoses have exhibited malignant transformation resulting in an osteosarcoma or chondrosarcoma. Osteochondromas development can also occur as a sporadic event.

Orphanet: 58 A primary bone disorder characterized by development of two or more cartilage capped bony outgrowths (osteochondromas) at the surface of the bones.

Wikipedia 75 Ext1: Exostosin-1 is a protein that in humans is encoded by the EXT1... more...

Exostoses, multiple, type 1: Hereditary multiple osteochondromas (HMO), also known as hereditary multiple exostoses, is a disorder... more...

Related Diseases for Exostoses, Multiple, Type I

Diseases in the Hereditary Multiple Exostoses family:

Exostoses, Multiple, Type I Exostoses, Multiple, Type Ii
Exostoses, Multiple, Type Iii

Diseases related to Exostoses, Multiple, Type I via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 417)
# Related Disease Score Top Affiliating Genes
1 hereditary multiple exostoses 32.0 EXT2 EXT1
2 hereditary multiple osteochondromas 32.0 EXT2 EXT1
3 osteochondroma 31.8 EXT2 EXT1
4 trichorhinophalangeal syndrome, type ii 31.8 EXT2 EXT1
5 chondrosarcoma 31.6 EXT2 EXT1
6 exostosis 31.5 EXT2 EXT1
7 bone disease 31.4 EXT2 EXT1
8 spondyloepiphyseal dysplasia with congenital joint dislocations 31.1 EXT2 EXT1
9 ankylosing spondylitis 3 31.1 EXT2 EXT1
10 periosteal osteogenic sarcoma 31.1 EXT2 EXT1
11 enchondromatosis, multiple, ollier type 31.1 EXT2 EXT1
12 periosteal chondrosarcoma 31.1 EXT2 EXT1
13 juxtacortical chondroma 31.1 EXT2 EXT1
14 charcot-marie-tooth disease, x-linked recessive, 3 31.1 EXT2 EXT1
15 charcot-marie-tooth disease, x-linked recessive, 2 31.1 EXT2 EXT1
16 metachondromatosis 31.1 EXT2 EXT1
17 multiple enchondromatosis, maffucci type 31.1 EXT2 EXT1
18 larsen syndrome 31.0 EXT2 EXT1
19 bone sarcoma 30.9 EXT2 EXT1
20 osteochondrodysplasia 30.6 EXT2 EXT1
21 synovial chondromatosis 11.5
22 dysplasia epiphysealis hemimelica with chondromas and osteochondromas 11.5
23 potocki-shaffer syndrome 11.3
24 exostoses, multiple, type ii 11.3
25 exostoses with anetodermia and brachydactyly, type e 11.0
26 trichorhinophalangeal syndrome 11.0
27 osteopoikilosis 11.0
28 hypertrichosis 11.0
29 trichorhinophalangeal syndrome, type i 10.9
30 cornelia de lange syndrome 4 with or without midline brain defects 10.9
31 brachydactyly 10.9
32 trichorhinophalangeal syndrome, type iii 10.8
33 vulto-van silfhout-de vries syndrome 10.8
34 neurodegeneration with brain iron accumulation 2a 10.7
35 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.6
36 exostoses, multiple, type iii 10.3
37 spinal cord disease 10.3
38 charge syndrome 10.3
39 calcinosis 10.2
40 chondroma 10.2
41 pneumothorax, primary spontaneous 10.2
42 pneumothorax 10.2
43 substance abuse 10.2
44 synovitis 10.2
45 arthropathy 10.2
46 papillon-lefevre syndrome 10.1
47 gout 10.1
48 developmental dysplasia of the hip 1 10.1
49 quadriplegia 10.1
50 virus-associated trichodysplasia spinulosa 10.1

Graphical network of the top 20 diseases related to Exostoses, Multiple, Type I:



Diseases related to Exostoses, Multiple, Type I

Symptoms & Phenotypes for Exostoses, Multiple, Type I

Human phenotypes related to Exostoses, Multiple, Type I:

58 30 (show top 50) (show all 64)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteochondroma 58 30 Obligate (100%) Obligate (100%)
HP:0030431
2 short stature 58 30 Very rare (1%) Frequent (79-30%)
HP:0004322
3 abnormal bone structure 58 30 Frequent (33%) Frequent (79-30%)
HP:0003330
4 functional motor deficit 58 30 Frequent (33%) Frequent (79-30%)
HP:0004302
5 abnormal cartilage morphology 58 30 Frequent (33%) Frequent (79-30%)
HP:0002763
6 arthritis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001369
7 genu valgum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002857
8 myalgia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003326
9 abnormality of tibia morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002992
10 coxa valga 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002673
11 lower limb asymmetry 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100559
12 short metacarpal 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010049
13 short lower limbs 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006385
14 abnormality of fibula morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002991
15 metaphyseal widening 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003016
16 limited hip movement 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008800
17 forearm undergrowth 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0009821
18 limitation of knee mobility 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010501
19 abnormal morphology of ulna 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0040071
20 bursitis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0025232
21 deformed radius 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003977
22 femoroacetabular impingement 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0030883
23 tendon pain 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0032510
24 somatic sensory dysfunction 30 Occasional (7.5%) HP:0003474
25 dysphagia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002015
26 pneumothorax 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002107
27 tethered cord 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002144
28 chest pain 58 30 Very rare (1%) Very rare (<4-1%)
HP:0100749
29 intestinal obstruction 58 30 Very rare (1%) Very rare (<4-1%)
HP:0005214
30 syringomyelia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0003396
31 urinary retention 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000016
32 rib exostoses 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000896
33 chondrosarcoma 58 30 Very rare (1%) Very rare (<4-1%)
HP:0006765
34 spinal cord compression 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002176
35 abnormality of the tarsal bones 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001850
36 bone fracture 58 30 Very rare (1%) Very rare (<4-1%)
HP:0020110
37 hemothorax 58 30 Very rare (1%) Very rare (<4-1%)
HP:0012151
38 abnormal pelvis bone morphology 58 30 Very rare (1%) Very rare (<4-1%)
HP:0040163
39 peripheral nerve compression 58 30 Very rare (1%) Very rare (<4-1%)
HP:0003406
40 talipes valgus 58 30 Very rare (1%) Very rare (<4-1%)
HP:0004684
41 cervical myelopathy 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002318
42 scapular exostoses 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000918
43 pseudoaneurysm 58 30 Very rare (1%) Very rare (<4-1%)
HP:0031625
44 multiple exostoses 30 Very rare (1%) HP:0002762
45 abnormal carpal morphology 30 Very rare (1%) HP:0001191
46 neuropathic spinal arthropathy 30 Very rare (1%) HP:0008443
47 bowing of the long bones 58 Occasional (29-5%)
48 abnormality of femur morphology 58 Frequent (79-30%)
49 coxa vara 30 HP:0002812
50 limitation of joint mobility 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skeletal Limbs:
genu valgum
short metacarpal
madelung-like forearm deformities
protuberances at ends of long bones
exostoses in juxtaepiphyseal regions of long bones

Chest Ribs Sternum Clavicles And Scapulae:
rib exostoses
scapular exostoses

Growth Height:
short stature in less than 50%

Neoplasia:
increased risk of chondrosarcoma (mean age of onset 31 years)

Skeletal Pelvis:
coxa vara
pelvic exostoses

Neurologic Peripheral Nervous System:
peripheral nerve compression
cervical myelopathy

Skeletal Feet:
bilateral overriding of single toes

Clinical features from OMIM®:

133700 (Updated 08-Dec-2022)

UMLS symptoms related to Exostoses, Multiple, Type I:


pain

Drugs & Therapeutics for Exostoses, Multiple, Type I

Drugs for Exostoses, Multiple, Type I (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 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
6 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
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 Exostoses, Multiple, Type I

Genetic Tests for Exostoses, Multiple, Type I

Genetic tests related to Exostoses, Multiple, Type I:

# Genetic test Affiliating Genes
1 Exostoses, Multiple, Type 1 28 EXT1

Anatomical Context for Exostoses, Multiple, Type I

Organs/tissues related to Exostoses, Multiple, Type I:

MalaCards : Bone, Spinal Cord, Endothelial, Breast, Lung, Bone Marrow, Prostate

Publications for Exostoses, Multiple, Type I

Articles related to Exostoses, Multiple, Type I:

(show top 50) (show all 1915)
# 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 57 5
30806661 2019
2
New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas. 62 57 5
19344451 2009
3
Novel mutations in the EXT1 gene in two consanguineous families affected with multiple hereditary exostoses (familial osteochondromatosis). 62 57 5
15253765 2004
4
Genotype-phenotype correlation in hereditary multiple exostoses. 62 57 5
11432960 2001
5
Mutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostoses. 62 57 5
11170095 2001
6
Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes. 62 57 5
10679937 2000
7
Mutation analysis of hereditary multiple exostoses in the Chinese. 62 57 5
10480354 1999
8
Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses. 62 57 5
9463333 1998
9
Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses. 62 57 5
9521425 1998
10
Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses. 62 57 5
9326317 1997
11
Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies. 62 57 5
8981950 1997
12
Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1). 62 57 5
7550340 1995
13
Heterogeneous spectrum of EXT gene mutations in Chinese patients with hereditary multiple osteochondromas. 62 5
30334991 2018
14
Analysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromas. 62 5
29529714 2018
15
A genotype-phenotype study of hereditary multiple exostoses in forty-six Chinese patients. 62 5
29126381 2017
16
[Analysis of a multiple osteochondroma case caused by novel splice mutation (c.1164+1G to A) of EXT1 gene]. 62 5
28604967 2017
17
Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas. 62 5
26961984 2016
18
Genetic screening of EXT1 and EXT2 in Cypriot families with hereditary multiple osteochondromas. 62 5
26690531 2015
19
Hereditary multiple exostoses and solitary osteochondroma associated with growth hormone deficiency: to treat or not to treat? 62 5
26239617 2015
20
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
21
A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG. 62 5
25230886 2014
22
Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses. 62 5
24532482 2014
23
Clinical characteristics of hereditary multiple exostoses: a retrospective study of mainland chinese cases in recent 23 years. 62 5
24496678 2014
24
Carriers of loss-of-function mutations in EXT display impaired pancreatic beta-cell reserve due to smaller pancreas volume. 62 5
25541963 2014
25
Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas. 62 5
23439489 2013
26
Genotype-phenotype correlation study in 529 patients with multiple hereditary exostoses: identification of "protective" and "risk" factors. 62 5
22258776 2011
27
Clinical and molecular studies of EXT1/EXT2 in Bulgaria. 62 5
21499719 2011
28
Genetic models of osteochondroma onset and neoplastic progression: evidence for mechanisms alternative to EXT genes inactivation. 62 5
20418910 2010
29
Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb). 62 5
19810120 2009
30
Identification of four novel EXT1 and EXT2 mutations in five Chinese pedigrees with hereditary multiple exostoses. 62 5
19839753 2009
31
Genetic analysis of hereditary multiple exostoses in Tunisian families: a novel frame-shift mutation in the EXT1 gene. 62 5
18330718 2009
32
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
33
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
34
The genotype-phenotype correlation of hereditary multiple exostoses. 62 57
16879194 2006
35
An optimized DHPLC protocol for molecular testing of the EXT1 and EXT2 genes in hereditary multiple osteochondromas. 62 5
16283885 2005
36
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
37
Two-color multiplex ligation-dependent probe amplification: detecting genomic rearrangements in hereditary multiple exostoses. 62 5
15221792 2004
38
Reciprocal translocation associated with multiple exostoses in seven members of a three generation family and discovered through an infertile male. 62 57
14556251 2003
39
Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity. 62 5
11391482 2001
40
Association of EXT1 and EXT2, hereditary multiple exostoses gene products, in Golgi apparatus. 62 5
10679296 2000
41
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
42
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 5
10639137 2000
43
The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate. 62 5
9620772 1998
44
Incomplete penetrance and expressivity skewing in hereditary multiple exostoses. 62 57
9272707 1997
45
Identification of novel mutations in the human EXT1 tumor suppressor gene. 62 5
9150727 1997
46
An extension of the admixture test for the study of genetic heterogeneity in hereditary multiple exostoses. 62 57
9050912 1997
47
Osteochondroma of the thoracic spine: an unusual cause of spinal cord compression. 62 57
8733974 1996
48
Hereditary multiple exostoses: confirmation of linkage to chromosomes 8 and 11. 62 57
8882395 1996
49
A 4-megabase YAC contig that spans the Langer-Giedion syndrome region on human chromosome 8q24.1: use in refining the location of the trichorhinophalangeal syndrome and multiple exostoses genes (TRPS1 and EXT1). 62 57
8530105 1995
50
Natural history study of hereditary multiple exostoses. 62 57
7702095 1995

Variations for Exostoses, Multiple, Type I

ClinVar genetic disease variations for Exostoses, Multiple, Type I:

5 (show top 50) (show all 563)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EXT1 NM_000127.3(EXT1):c.357C>A (p.Tyr119Ter) SNV Pathogenic
2499 rs119103289 GRCh37: 8:119122929-119122929
GRCh38: 8:118110690-118110690
2 EXT1 NM_000127.3(EXT1):c.1664dup (p.Asn555fs) DUP Pathogenic
2502 rs1586993159 GRCh37: 8:118825168-118825169
GRCh38: 8:117812929-117812930
3 EXT1 NM_000127.3(EXT1):c.1401del (p.Tyr468fs) DEL Pathogenic
456061 rs1554579004 GRCh37: 8:118834720-118834720
GRCh38: 8:117822481-117822481
4 EXT1 NM_000127.3(EXT1):c.521del (p.Asn173_Leu174insTer) DEL Pathogenic
495063 rs1554601526 GRCh37: 8:119122765-119122765
GRCh38: 8:118110526-118110526
5 EXT1 NM_000127.2(EXT1):c.369_370delinsT (p.Lys123fs) INDEL Pathogenic
566150 rs1563659571 GRCh37: 8:119122916-119122917
GRCh38: 8:118110677-118110678
6 EXT1 NM_000127.3(EXT1):c.165G>A (p.Trp55Ter) SNV Pathogenic
638562 rs1586280132 GRCh37: 8:119123121-119123121
GRCh38: 8:118110882-118110882
7 EXT1 NM_000127.3(EXT1):c.1236G>A (p.Trp412Ter) SNV Pathogenic
650518 rs1587001428 GRCh37: 8:118842517-118842517
GRCh38: 8:117830278-117830278
8 EXT1 NM_000127.3(EXT1):c.276_277dup (p.Tyr93fs) DUP Pathogenic
653826 rs1586279952 GRCh37: 8:119123008-119123009
GRCh38: 8:118110769-118110770
9 EXT1 NC_000008.11:g.(?_117799692)_(117799917_?)del DEL Pathogenic
833208 GRCh37: 8:118811931-118812156
GRCh38:
10 EXT1 NC_000008.11:g.(?_117799692)_(118111066_?)del DEL Pathogenic
833433 GRCh37: 8:118811931-119123305
GRCh38:
11 EXT1 NC_000008.11:g.(?_118110065)_(118111066_?)del DEL Pathogenic
664442 GRCh37: 8:119122304-119123305
GRCh38: 8:118110065-118111066
12 EXT1 NM_000127.3(EXT1):c.1952_1959del (p.Asn651fs) DEL Pathogenic
830046 rs1586989189 GRCh37: 8:118817057-118817064
GRCh38: 8:117804818-117804825
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.1633-1G>A SNV Pathogenic
972704 rs1823354043 GRCh37: 8:118825201-118825201
GRCh38: 8:117812962-117812962
16 EXT1 NM_000127.3(EXT1):c.1434_1440dup (p.Thr481fs) DUP Pathogenic
982022 rs1811892597 GRCh37: 8:118832010-118832011
GRCh38: 8:117819771-117819772
17 EXT1 NC_000008.10:g.(?_119120510)_119123163del DEL Pathogenic
1072964 GRCh37:
GRCh38:
18 EXT1 NC_000008.10:g.(?_118788188)_118817001del DEL Pathogenic
1072965 GRCh37:
GRCh38:
19 EXT1 NC_000008.10:g.(?_118596815)_118825146del DEL Pathogenic
1072966 GRCh37:
GRCh38:
20 EXT1 NM_000127.3(EXT1):c.1290_1297del (p.Ile430fs) DEL Pathogenic
1329470 GRCh37: 8:118834824-118834831
GRCh38: 8:117822585-117822592
21 EXT1 NM_000127.3(EXT1):c.1303_1304dup (p.Lys436fs) DUP Pathogenic
1329471 GRCh37: 8:118834816-118834817
GRCh38: 8:117822577-117822578
22 EXT1 NM_000127.3(EXT1):c.392dup (p.Tyr131Ter) DUP Pathogenic
1333161 GRCh37: 8:119122893-119122894
GRCh38: 8:118110654-118110655
23 EXT1 NM_000127.3(EXT1):c.2133G>A (p.Trp711Ter) SNV Pathogenic
1306269 GRCh37: 8:118812059-118812059
GRCh38: 8:117799820-117799820
24 EXT1 NM_000127.3(EXT1):c.1829C>A (p.Ser610Ter) SNV Pathogenic
1358220 GRCh37: 8:118819510-118819510
GRCh38: 8:117807271-117807271
25 EXT1 NC_000008.10:g.(?_119122304)_(119123285_?)del DEL Pathogenic
1398964 GRCh37: 8:119122304-119123285
GRCh38:
26 EXT1 NM_000127.3(EXT1):c.1076dup (p.Met359fs) DUP Pathogenic
1372124 GRCh37: 8:118847770-118847771
GRCh38: 8:117835531-117835532
27 EXT1 NM_000127.3(EXT1):c.613G>T (p.Glu205Ter) SNV Pathogenic
1355295 GRCh37: 8:119122673-119122673
GRCh38: 8:118110434-118110434
28 EXT1 NM_000127.3(EXT1):c.1779del (p.Ala594fs) DEL Pathogenic
1410153 GRCh37: 8:118819560-118819560
GRCh38: 8:117807321-117807321
29 EXT1 NM_000127.3(EXT1):c.1073dup (p.Met359fs) DUP Pathogenic
1409072 GRCh37: 8:118847773-118847774
GRCh38: 8:117835534-117835535
30 EXT1 NM_000127.3(EXT1):c.773_777del (p.Pro258fs) DEL Pathogenic
1430274 GRCh37: 8:119122509-119122513
GRCh38: 8:118110270-118110274
31 EXT1 NM_000127.3(EXT1):c.1193del (p.Gln398fs) DEL Pathogenic
1430937 GRCh37: 8:118842560-118842560
GRCh38: 8:117830321-117830321
32 EXT1 NM_000127.3(EXT1):c.1762dup (p.Arg588fs) DUP Pathogenic
1417206 GRCh37: 8:118819576-118819577
GRCh38: 8:117807337-117807338
33 EXT1 NC_000008.10:g.(?_118830654)_(118849460_?)del DEL Pathogenic
1454545 GRCh37: 8:118830654-118849460
GRCh38:
34 EXT1 NM_000127.3(EXT1):c.1678_1679del (p.Ala560fs) DEL Pathogenic
1454658 GRCh37: 8:118825154-118825155
GRCh38: 8:117812915-117812916
35 EXT1 NM_000127.3(EXT1):c.1522C>T (p.Gln508Ter) SNV Pathogenic
1455161 GRCh37: 8:118831929-118831929
GRCh38: 8:117819690-117819690
36 EXT1 NM_000127.3(EXT1):c.600G>A (p.Trp200Ter) SNV Pathogenic
1458869 GRCh37: 8:119122686-119122686
GRCh38: 8:118110447-118110447
37 EXT1 NM_000127.3(EXT1):c.1658dup (p.Tyr553Ter) DUP Pathogenic
1457249 GRCh37: 8:118825174-118825175
GRCh38: 8:117812935-117812936
38 EXT1 NM_000127.3(EXT1):c.293del (p.Cys98fs) DEL Pathogenic
1444962 GRCh37: 8:119122993-119122993
GRCh38: 8:118110754-118110754
39 overlap with 16 genes NC_000008.10:g.(?_116426251)_(120844804_?)del DEL Pathogenic
1458813 GRCh37: 8:116426251-120844804
GRCh38:
40 EXT1 NM_000127.3(EXT1):c.1164+1G>A SNV Pathogenic
1458863 GRCh37: 8:118847682-118847682
GRCh38: 8:117835443-117835443
41 EXT1 NC_000008.10:g.(?_118803587)_(118819524_?)del DEL Pathogenic
1459667 GRCh37: 8:118803587-118819524
GRCh38:
42 EXT1 NM_000127.3(EXT1):c.1537-1G>C SNV Pathogenic
1459675 GRCh37: 8:118830770-118830770
GRCh38: 8:117818531-117818531
43 EXT1 NM_000127.3(EXT1):c.393C>G (p.Tyr131Ter) SNV Pathogenic
1455002 GRCh37: 8:119122893-119122893
GRCh38: 8:118110654-118110654
44 EXT1 NM_000127.3(EXT1):c.637C>T (p.Gln213Ter) SNV Pathogenic
1456109 GRCh37: 8:119122649-119122649
GRCh38: 8:118110410-118110410
45 EXT1 NM_000127.3(EXT1):c.787del (p.Met263fs) DEL Pathogenic
1451424 GRCh37: 8:119122499-119122499
GRCh38: 8:118110260-118110260
46 EXT1 NM_000127.3(EXT1):c.1052dup (p.Leu351fs) DUP Pathogenic
1452424 GRCh37: 8:118849350-118849351
GRCh38: 8:117837111-117837112
47 EXT1 NM_000127.3(EXT1):c.1417+1del DEL Pathogenic
1452000 GRCh37: 8:118834703-118834703
GRCh38: 8:117822464-117822464
48 NAE1 NM_003905.4(NAE1):c.1289G>A (p.Arg430Gln) SNV Pathogenic
1526415 GRCh37: 16:66842465-66842465
GRCh38: 16:66808562-66808562
49 NAE1 NM_003905.4(NAE1):c.882C>G (p.Cys294Trp) SNV Pathogenic
1526416 GRCh37: 16:66847708-66847708
GRCh38: 16:66813805-66813805
50 EXT1 NM_000127.3(EXT1):c.287del (p.Lys96fs) DEL Pathogenic
837584 rs1817884791 GRCh37: 8:119122999-119122999
GRCh38: 8:118110760-118110760

UniProtKB/Swiss-Prot genetic disease variations for Exostoses, Multiple, Type I:

73 (show all 11)
# Symbol AA change Variation ID SNP ID
1 EXT1 p.Arg280Gly VAR_002370 rs1554601483
2 EXT1 p.Arg280Ser VAR_002371 rs1563659325
3 EXT1 p.Gly339Asp VAR_002372 rs119103288
4 EXT1 p.Arg340Cys VAR_002373 rs119103290
5 EXT1 p.Arg340His VAR_002374 rs119103287
6 EXT1 p.Arg340Leu VAR_002375 rs119103287
7 EXT1 p.Arg340Ser VAR_002376
8 EXT1 p.Gln27Lys VAR_012815
9 EXT1 p.Asp164His VAR_012816
10 EXT1 p.Ala486Val VAR_012821 rs188859975
11 EXT1 p.Pro496Leu VAR_012822

Cosmic variations for Exostoses, Multiple, Type I:

8 (show top 50) (show all 101)
# 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 6
2 COSM131096137 TSHR bone,skull,chondrosarcoma,NS c.1210G>T p.E404* 14:81143268-81143268 6
3 COSM97086777 PTPRT bone,skull,chondrosarcoma,NS c.878C>T p.A293V 20:42678141-42678141 6
4 COSM97185682 PTPRT bone,skull,chondrosarcoma,NS c.878C>T p.A293V 20:42678141-42678141 6
5 COSM96860001 PTPRT bone,skull,chondrosarcoma,NS c.878C>T p.A293V 20:42678141-42678141 6
6 COSM96641930 PTPRT bone,skull,chondrosarcoma,NS c.878C>T p.A293V 20:42678141-42678141 6
7 COSM143686194 PTPRT bone,skull,chondrosarcoma,NS c.665C>T p.A222V 20:42678141-42678141 6
8 COSM96745153 PTPRT bone,skull,chondrosarcoma,NS c.878C>T p.A293V 20:42678141-42678141 6
9 COSM96973805 PTPRT bone,skull,chondrosarcoma,NS c.878C>T p.A293V 20:42678141-42678141 6
10 COSM93299070 PTPRT bone,skull,chondrosarcoma,NS c.878C>T p.A293V 20:42678141-42678141 6
11 COSM86885224 IRS1 bone,skull,chondrosarcoma,NS c.730G>T p.V244L 2:226798009-226798009 6
12 COSM103034325 IDH1 bone,humerus,chondrosarcoma,conventional c.394C>A p.R132S 2:208248389-208248389 6
13 COSM90465359 IDH1 bone,scapula,chondrosarcoma,NS c.395G>A p.R132H 2:208248388-208248388 6
14 COSM90466087 IDH1 bone,humerus,chondrosarcoma,conventional c.394C>A p.R132S 2:208248389-208248389 6
15 COSM93086636 GNAS bone,humerus,osteosarcoma,NS c.604C>T p.R202C 20:58909365-58909365 6
16 COSM89474843 GNAS bone,humerus,osteosarcoma,NS c.*504C>T p.? 20:58909365-58909365 6
17 COSM84952478 FOXA1 bone,skull,chondrosarcoma,NS c.1213C>A p.L405I 14:37591571-37591571 6
18 COSM86645205 RB1 bone,tibia,osteosarcoma,NS c.1499-1G>T p.? 13:48381246-48381246 5
19 COSM86624252 RB1 bone,tibia,osteosarcoma,NS c.1215+1G>A p.? 13:48373493-48373493 5
20 COSM90850096 KMT2C bone,femur,osteosarcoma,NS c.7214A>G p.E2405G 7:152180062-152180062 5
21 COSM88388477 KMT2C bone,femur,osteosarcoma,NS c.1181G>A p.C394Y 7:152265041-152265041 5
22 COSM88442911 KMT2C bone,femur,osteosarcoma,NS c.8174A>G p.E2725G 7:152177279-152177279 5
23 COSM88389816 KMT2C bone,femur,osteosarcoma,NS c.2459C>T p.T820I 7:152247975-152247975 5
24 COSM88442935 KMT2C bone,femur,osteosarcoma,NS c.1277C>A p.P426Q 7:152263038-152263038 5
25 COSM90850069 KMT2C bone,femur,osteosarcoma,NS c.9769G>A p.E3257K 7:152163808-152163808 5
26 COSM90792434 KMT2C bone,femur,osteosarcoma,NS c.2656C>T p.R886C 7:152235930-152235930 5
27 COSM90790761 KMT2C bone,femur,osteosarcoma,NS c.1181G>A p.C394Y 7:152265041-152265041 5
28 COSM88441962 KMT2C bone,femur,osteosarcoma,NS c.404C>T p.A135V 7:152315324-152315324 5
29 COSM90850919 KMT2C bone,femur,osteosarcoma,NS c.8174A>G p.E2725G 7:152177279-152177279 5
30 COSM88442922 KMT2C bone,femur,osteosarcoma,NS c.6632G>C p.R2211T 7:152181228-152181228 5
31 COSM90850929 KMT2C bone,femur,osteosarcoma,NS c.6632G>C p.R2211T 7:152181228-152181228 5
32 COSM88441911 KMT2C bone,femur,osteosarcoma,NS c.7318C>T p.P2440S 7:152179958-152179958 5
33 COSM90850116 KMT2C bone,femur,osteosarcoma,NS c.3119C>A p.P1040Q 7:152224474-152224474 5
34 COSM88387461 KMT2C bone,femur,osteosarcoma,NS c.2512G>A p.G838S 7:152247922-152247922 5
35 COSM90850903 KMT2C bone,femur,osteosarcoma,NS c.9622T>C p.S3208P 7:152167274-152167274 5
36 COSM88441921 KMT2C bone,femur,osteosarcoma,NS c.7214A>G p.E2405G 7:152180062-152180062 5
37 COSM90850111 KMT2C bone,femur,osteosarcoma,NS c.3155A>T p.K1052I 7:152224438-152224438 5
38 COSM90789498 KMT2C bone,femur,osteosarcoma,NS c.2512G>A p.G838S 7:152247922-152247922 5
39 COSM90792686 KMT2C bone,femur,osteosarcoma,NS c.2459C>T p.T820I 7:152247975-152247975 5
40 COSM88442892 KMT2C bone,femur,osteosarcoma,NS c.9622T>C p.S3208P 7:152167274-152167274 5
41 COSM88441896 KMT2C bone,femur,osteosarcoma,NS c.9769G>A p.E3257K 7:152163808-152163808 5
42 COSM88441903 KMT2C bone,femur,osteosarcoma,NS c.9182A>G p.Q3061R 7:152176271-152176271 5
43 COSM90809622 KMT2C bone,femur,osteosarcoma,NS c.2468T>C p.I823T 7:152247966-152247966 5
44 COSM88442928 KMT2C bone,femur,osteosarcoma,NS c.5459C>G p.S1820C 7:152182401-152182401 5
45 COSM88403451 KMT2C bone,femur,osteosarcoma,NS c.10383T>G p.D3461E 7:152163194-152163194 5
46 COSM88441945 KMT2C bone,femur,osteosarcoma,NS c.3119C>A p.P1040Q 7:152224474-152224474 5
47 COSM88442903 KMT2C bone,femur,osteosarcoma,NS c.9617G>C p.R3206T 7:152167279-152167279 5
48 COSM90850945 KMT2C bone,femur,osteosarcoma,NS c.1277C>A p.P426Q 7:152263038-152263038 5
49 COSM90850106 KMT2C bone,femur,osteosarcoma,NS c.5669G>C p.R1890P 7:152182191-152182191 5
50 COSM90850089 KMT2C bone,femur,osteosarcoma,NS c.7318C>T p.P2440S 7:152179958-152179958 5

Expression for Exostoses, Multiple, Type I

Search GEO for disease gene expression data for Exostoses, Multiple, Type I.

Pathways for Exostoses, Multiple, Type I

GO Terms for Exostoses, Multiple, Type I

Biological processes related to Exostoses, Multiple, Type I according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 gene expression GO:0010467 9.87 EXT2 EXT1
2 ossification GO:0001503 9.86 EXT2 EXT1
3 regulation of blood pressure GO:0008217 9.85 EXT2 EXT1
4 vasodilation GO:0042311 9.83 EXT2 EXT1
5 heparan sulfate proteoglycan biosynthetic process GO:0015012 9.8 EXT2 EXT1
6 heart contraction GO:0060047 9.78 EXT2 EXT1
7 glycosaminoglycan biosynthetic process GO:0006024 9.76 EXT1 EXT2
8 protein glycosylation GO:0006486 9.75 EXT2 EXT1
9 sodium ion homeostasis GO:0055078 9.73 EXT2 EXT1
10 chondrocyte differentiation GO:0002062 9.71 EXT2 EXT1
11 sulfation GO:0051923 9.71 EXT2 EXT1
12 cellular response to fibroblast growth factor stimulus GO:0044344 9.69 EXT2 EXT1
13 heparin biosynthetic process GO:0030210 9.67 EXT2 EXT1
14 multicellular organismal water homeostasis GO:0050891 9.62 EXT2 EXT1
15 heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process GO:0015014 9.56 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 Exostoses, Multiple, Type I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein heterodimerization activity GO:0046982 9.85 NAE1 EXT2 EXT1
2 glycosyltransferase activity GO:0016757 9.71 EXT2 EXT1
3 glucuronosyltransferase activity GO:0015020 9.62 EXT2 EXT1
4 acetylglucosaminyltransferase activity GO:0008375 9.56 EXT2 EXT1
5 glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity GO:0050508 9.46 EXT2 EXT1
6 N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity GO:0050509 9.26 EXT2 EXT1
7 heparan sulfate N-acetylglucosaminyltransferase activity GO:0042328 8.92 EXT2 EXT1

Sources for Exostoses, Multiple, Type I

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....