EXT1
MCID: EXS019
MIFTS: 54

Exostoses, Multiple, Type I (EXT1)

Categories: Bone diseases, Cancer diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Rare diseases

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 73 20 13
Multiple Cartilaginous Exostoses 57 58
Multiple Exostoses Type 1 29 6
Multiple Osteochondromas 57 58
Osteochondromatosis 57 70
Diaphyseal Aclasis 57 6
Ext1 57 72
Hereditary Multiple Exostoses 1 72
Hereditary Multiple Exostoses 70
Osteochondromas, Multiple 39
Bessel-Hagen Disease 58
Enchondromatosis 70
Ext 57

Characteristics:

Orphanet epidemiological data:

58
multiple osteochondromas
Inheritance: Autosomal dominant; Prevalence: >1/1000,1-9/1000000 (United Kingdom),1-9/100000 (Netherlands),1-9/100000 (Europe),1-9/100000 (United States); Age of onset: Childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
more severe in males than in females
onset early childhood
lesions continue to grow until epiphyseal plate closure


HPO:

31
exostoses, multiple, type i:
Inheritance autosomal dominant inheritance
Onset and clinical course juvenile onset


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 05-Apr-2021)

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 Glycosaminoglycan metabolism and Mesodermal Commitment Pathway. The drugs Vaccines and Tretinoin have been mentioned in the context of this disorder. Affiliated tissues include bone, breast and brain, and related phenotypes are failure to thrive and abnormality of tibia morphology

UniProtKB/Swiss-Prot : 72 Hereditary multiple exostoses 1: 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.

Wikipedia : 73 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 166)
# Related Disease Score Top Affiliating Genes
1 hereditary multiple exostoses 31.8 EXT2 EXT1
2 hereditary multiple osteochondromas 31.8 EXT2 EXT1
3 trichorhinophalangeal syndrome, type ii 31.7 EXT2 EXT1
4 osteochondroma 31.6 EXT2 EXT1
5 exostosis 31.4 EXT2 EXT1
6 chondrosarcoma 31.3 EXT2 EXT1
7 bone disease 31.0 EXT2 EXT1
8 dysplasia epiphysealis hemimelica 30.9 EXT2 EXT1
9 ankylosing spondylitis 3 30.9 EXT2 EXT1
10 juxtacortical chondroma 30.9 EXT2 EXT1
11 metachondromatosis 30.9 EXT2 EXT1
12 multiple enchondromatosis, maffucci type 30.9 EXT2 EXT1
13 enchondromatosis, multiple, ollier type 30.9 EXT2 EXT1
14 mucopolysaccharidosis iii 30.8 EXT2 EXT1
15 bone remodeling disease 30.8 EXT2 EXT1
16 bone sarcoma 30.7 EXT2 EXT1
17 odontochondrodysplasia 30.6 EXT2 EXT1
18 dysplasia epiphysealis hemimelica with chondromas and osteochondromas 11.5
19 synovial chondromatosis 11.3
20 exostoses, multiple, type ii 11.2
21 potocki-shaffer syndrome 11.1
22 trichorhinophalangeal syndrome 11.0
23 osteopoikilosis 11.0
24 hypertrichosis 11.0
25 trichorhinophalangeal syndrome, type i 10.9
26 cornelia de lange syndrome 4 with or without midline brain defects 10.9
27 cornelia de lange syndrome 10.9
28 hypotrichosis 2 10.8
29 trichorhinophalangeal syndrome, type iii 10.8
30 mucopolysaccharidosis, type iiia 10.8
31 temtamy preaxial brachydactyly syndrome 10.8
32 periosteal chondrosarcoma 10.8
33 exostoses, multiple, type iii 10.3
34 calcinosis 10.2
35 chondroma 10.2
36 plica syndrome 10.2
37 synovitis 10.2
38 arthropathy 10.1
39 neurofibromatosis, type i 10.1
40 peripheral dysostosis 10.1
41 dysostosis 10.1
42 achalasia 10.1
43 lymphoproliferative syndrome 10.1
44 post-transplant lymphoproliferative disease 10.1
45 osteonecrosis 10.1
46 gout 10.1
47 frozen shoulder 10.1
48 bursitis 10.1
49 villonodular synovitis 10.1
50 polyposis, intestinal, with multiple exostoses 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 31 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
2 abnormality of tibia morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0002992
3 abnormality of the humerus 58 31 hallmark (90%) Very frequent (99-80%) HP:0003063
4 multiple exostoses 58 31 hallmark (90%) Very frequent (99-80%) HP:0002762
5 muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0001324
6 avascular necrosis 58 31 frequent (33%) Frequent (79-30%) HP:0010885
7 abnormality of the dentition 58 31 frequent (33%) Frequent (79-30%) HP:0000164
8 anteverted nares 58 31 frequent (33%) Frequent (79-30%) HP:0000463
9 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
10 cranial nerve paralysis 58 31 frequent (33%) Frequent (79-30%) HP:0006824
11 abnormality of the metaphysis 58 31 frequent (33%) Frequent (79-30%) HP:0000944
12 genu valgum 58 31 frequent (33%) Frequent (79-30%) HP:0002857
13 madelung deformity 58 31 frequent (33%) Frequent (79-30%) HP:0003067
14 abnormality of femur morphology 58 31 frequent (33%) Frequent (79-30%) HP:0002823
15 micromelia 58 31 frequent (33%) Frequent (79-30%) HP:0002983
16 bone pain 58 31 frequent (33%) Frequent (79-30%) HP:0002653
17 hypoplasia of the ulna 58 31 frequent (33%) Frequent (79-30%) HP:0003022
18 radial bowing 58 31 frequent (33%) Frequent (79-30%) HP:0002986
19 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
20 abnormal pyramidal sign 58 31 occasional (7.5%) Occasional (29-5%) HP:0007256
21 synostosis of joints 58 31 occasional (7.5%) Occasional (29-5%) HP:0100240
22 hemiplegia/hemiparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004374
23 recurrent fractures 58 31 occasional (7.5%) Occasional (29-5%) HP:0002757
24 osteoarthritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002758
25 elbow dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0003042
26 osteolysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002797
27 abnormal pericardium morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001697
28 chondrosarcoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0006765
29 pelvic bone exostoses 58 31 occasional (7.5%) Occasional (29-5%) HP:0003276
30 vascular dilatation 31 occasional (7.5%) HP:0002617
31 neoplasm 58 Occasional (29-5%)
32 abnormality of pelvic girdle bone morphology 58 Occasional (29-5%)
33 coxa vara 31 HP:0002812
34 abnormality of the upper limb 58 Frequent (79-30%)
35 short metacarpal 31 HP:0010049
36 dilatation 58 Occasional (29-5%)
37 exostoses 58 Frequent (79-30%)
38 rib exostoses 31 HP:0000896
39 peripheral nerve compression 31 HP:0003406
40 scapular exostoses 31 HP:0000918
41 abnormal foot morphology 31 HP:0001760
42 cervical myelopathy 31 HP:0002318
43 madelung-like forearm deformities 31 HP:0003068
44 protuberances at ends of long bones 31 HP:0003105

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 05-Apr-2021)

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 Vaccines Phase 3
2
Tretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4 444795 5538

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Safety, Immunogenicity, and Efficacy of Gardasil (V501 (Human Papilloma Virus [Types 6, 11, 16, 18] Recombinant Vaccine) in Mid-Adult Women - The FUTURE III (Females United to Unilaterally Reduce Endo/Ectocervical Cancer) Study Completed NCT00090220 Phase 3
2 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
3 The Health-Related Quality of Life in Patients With Hereditary Multiple Exostoses Completed NCT00474448
4 NGS Strategy Effectiveness in Molecular Diagnosis Completed NCT03557567
5 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
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 Enrolling by invitation 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 Exostoses, Multiple, Type I

Genetic Tests for Exostoses, Multiple, Type I

Genetic tests related to Exostoses, Multiple, Type I:

# Genetic test Affiliating Genes
1 Multiple Exostoses Type 1 29

Anatomical Context for Exostoses, Multiple, Type I

MalaCards organs/tissues related to Exostoses, Multiple, Type I:

40
Bone, Breast, Brain, Lung, Endothelial, Prostate, Spinal Cord

Publications for Exostoses, Multiple, Type I

Articles related to Exostoses, Multiple, Type I:

(show top 50) (show all 495)
# 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. 57 6 61
30806661 2019
2
New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas. 61 57 6
19344451 2009
3
Novel mutations in the EXT1 gene in two consanguineous families affected with multiple hereditary exostoses (familial osteochondromatosis). 61 6 57
15253765 2004
4
Genotype-phenotype correlation in hereditary multiple exostoses. 61 6 57
11432960 2001
5
Mutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostoses. 61 6 57
11170095 2001
6
Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes. 57 6 61
10679937 2000
7
Mutation analysis of hereditary multiple exostoses in the Chinese. 6 61 57
10480354 1999
8
Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses. 61 6 57
9463333 1998
9
Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses. 61 6 57
9521425 1998
10
Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses. 61 6 57
9326317 1997
11
Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies. 61 6 57
8981950 1997
12
Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1). 57 6 61
7550340 1995
13
A Novel EXT1 Mutation Identified in a Family with Multiple Osteochondromas. 6 61
29989442 2019
14
Heterogeneous spectrum of EXT gene mutations in Chinese patients with hereditary multiple osteochondromas. 61 6
30334991 2018
15
Analysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromas. 61 6
29529714 2018
16
A genotype-phenotype study of hereditary multiple exostoses in forty-six Chinese patients. 61 6
29126381 2017
17
Identification of mutations in EXT1 and EXT2 genes in six Chinese families with multiple osteochondromas. 61 6
28849184 2017
18
Targeted Next-Generation Sequencing Newly Identifies Mutations in Exostosin-1 and Exostosin-2 Genes of Patients with Multiple Osteochondromas. 61 6
28690282 2017
19
Hereditary Multiple Exostoses: Clinical, Molecular and Radiologic Survey in 9 Families. 61 6
28922105 2017
20
Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas. 6 61
26961984 2016
21
Genetic screening of EXT1 and EXT2 in Cypriot families with hereditary multiple osteochondromas. 61 6
26690531 2015
22
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
23
Somatic loss of an EXT2 gene mutation during malignant progression in a patient with hereditary multiple osteochondromas. 61 6
25744876 2015
24
A patient with novel mutations causing MEN1 and hereditary multiple osteochondroma. 61 6
26515642 2015
25
[Mutation analysis of EXT2 gene in a family with hereditary multiple exostosis]. 61 6
25449079 2014
26
Loss of function in heparan sulfate elongation genes EXT1 and EXT 2 results in improved nitric oxide bioavailability and endothelial function. 6 61
25468659 2014
27
A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG. 61 6
25230886 2014
28
Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses. 61 6
24532482 2014
29
Clinical characteristics of hereditary multiple exostoses: a retrospective study of mainland chinese cases in recent 23 years. 61 6
24496678 2014
30
A splice mutation and mRNA decay of EXT2 provoke hereditary multiple exostoses. 6 61
24728384 2014
31
Carriers of loss-of-function mutations in EXT display impaired pancreatic beta-cell reserve due to smaller pancreas volume. 61 6
25541963 2014
32
Mutation screening for the EXT1 and EXT2 genes in Chinese patients with multiple osteochondromas. 6 61
24120389 2013
33
Novel and recurrent mutations in the EXT1 and EXT2 genes in Chinese kindreds with multiple osteochondromas. 6 61
23629877 2013
34
20 novel point mutations and one large deletion in EXT1 and EXT2 genes: report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis. 61 6
23262345 2013
35
Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas. 61 6
23439489 2013
36
Peripheral chondrosarcoma progression is associated with increased type X collagen and vascularisation. 61 6
22116208 2012
37
Genotype-phenotype correlation study in 529 patients with multiple hereditary exostoses: identification of "protective" and "risk" factors. 61 6
22258776 2011
38
Clinical and molecular studies of EXT1/EXT2 in Bulgaria. 6 61
21499719 2011
39
Breakpoint characterization of large deletions in EXT1 or EXT2 in 10 multiple osteochondromas families. 61 6
21703028 2011
40
Tiling resolution array-CGH shows that somatic mosaic deletion of the EXT gene is causative in EXT gene mutation negative multiple osteochondromas patients. 6 61
21280143 2011
41
Novel mutations of EXT1 and EXT2 genes among families and sporadic cases with multiple exostoses. 6 61
21039224 2010
42
No haploinsufficiency but loss of heterozygosity for EXT in multiple osteochondromas. 6 61
20813973 2010
43
Genetic models of osteochondroma onset and neoplastic progression: evidence for mechanisms alternative to EXT genes inactivation. 61 6
20418910 2010
44
A novel EXT1 gene mutation causing hereditary multiple exostoses in a Chinese pedigree. 6 61
20025490 2010
45
Identification of four novel EXT1 and EXT2 mutations in five Chinese pedigrees with hereditary multiple exostoses. 6 61
19839753 2009
46
Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb). 61 6
19810120 2009
47
[A new EXT2 mutation in a Chinese family with hereditary multiple exostoses]. 6 61
19504431 2009
48
Genetic analysis of hereditary multiple exostoses in Tunisian families: a novel frame-shift mutation in the EXT1 gene. 6 61
18330718 2009
49
Novel EXT1 and EXT2 mutations in hereditary multiple exostoses families of Indian origin. 6 61
19309273 2009
50
One third of Japanese patients with multiple osteochondromas may have mutations in genes other than EXT1 or EXT2. 61 6
18976157 2008

Variations for Exostoses, Multiple, Type I

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

6 (show top 50) (show all 555)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EXT1 EXT1, 1-BP DEL, 2120T Deletion Pathogenic 2492 GRCh37:
GRCh38:
2 EXT1 EXT1, 1-BP DEL, 1364C Deletion Pathogenic 2493 GRCh37:
GRCh38:
3 EXT1 EXT1, 4-BP INS, NT1035 Insertion Pathogenic 2494 GRCh37:
GRCh38:
4 EXT1 NM_000127.2(EXT1):c.357C>A (p.Tyr119Ter) SNV Pathogenic 2499 rs119103289 GRCh37: 8:119122929-119122929
GRCh38: 8:118110690-118110690
5 EXT1 NM_000127.2(EXT1):c.1664dup (p.Asn555fs) Duplication Pathogenic 2502 rs1586993159 GRCh37: 8:118825168-118825169
GRCh38: 8:117812929-117812930
6 EXT1 NM_000127.2(EXT1):c.962+3_962+6del Microsatellite Pathogenic 2503 rs1586279285 GRCh37: 8:119122318-119122321
GRCh38: 8:118110079-118110082
7 EXT1 GRCh37/hg19 8q24.11(chr8:118825108-119054752)x3 copy number gain Pathogenic 225137 GRCh37: 8:118825108-119054752
GRCh38:
8 EXT1 NM_000127.2(EXT1):c.521del (p.Asn173_Leu174insTer) Deletion Pathogenic 495063 rs1554601526 GRCh37: 8:119122765-119122765
GRCh38: 8:118110526-118110526
9 EXT1 NM_000127.2(EXT1):c.165G>A (p.Trp55Ter) SNV Pathogenic 638562 rs1586280132 GRCh37: 8:119123121-119123121
GRCh38: 8:118110882-118110882
10 EXT1 NM_000127.2(EXT1):c.1019G>T (p.Arg340Leu) SNV Pathogenic 2495 rs119103287 GRCh37: 8:118849384-118849384
GRCh38: 8:117837145-117837145
11 EXT1 NM_000127.2(EXT1):c.1016G>A (p.Gly339Asp) SNV Pathogenic 2498 rs119103288 GRCh37: 8:118849387-118849387
GRCh38: 8:117837148-117837148
12 EXT1 NM_000127.2(EXT1):c.962+1G>C SNV Pathogenic 2501 rs886039353 GRCh37: 8:119122323-119122323
GRCh38: 8:118110084-118110084
13 EXT1 NM_000127.2(EXT1):c.1418-2A>G SNV Pathogenic 448898 rs1554578802 GRCh37: 8:118832035-118832035
GRCh38: 8:117819796-117819796
14 EXT1 NM_000127.2(EXT1):c.1633-34_1670del Deletion Pathogenic 456063 rs1554657940 GRCh37: 8:118825163-118825234
GRCh38: 8:117812924-117812995
15 EXT1 NM_000127.2(EXT1):c.1056+2T>A SNV Pathogenic 456059 rs1554580142 GRCh37: 8:118849345-118849345
GRCh38: 8:117837106-117837106
16 EXT1 NM_000127.2(EXT1):c.1401del (p.Tyr468fs) Deletion Pathogenic 456061 rs1554579004 GRCh37: 8:118834720-118834720
GRCh38: 8:117822481-117822481
17 EXT1 NM_000127.2(EXT1):c.1056+3A>C SNV Pathogenic 456060 rs1554580140 GRCh37: 8:118849344-118849344
GRCh38: 8:117837105-117837105
18 EXT1 NM_000127.2(EXT1):c.598_669del (p.Trp200_Thr223del) Deletion Pathogenic 456064 rs1554601502 GRCh37: 8:119122617-119122688
GRCh38: 8:118110378-118110449
19 EXT1 NM_000127.2(EXT1):c.644_647dup (p.Lys218fs) Duplication Pathogenic 526297 rs1554601507 GRCh37: 8:119122638-119122639
GRCh38: 8:118110399-118110400
20 EXT1 NM_000127.2(EXT1):c.533_534dup (p.Gln179fs) Duplication Pathogenic 526299 rs1554601525 GRCh37: 8:119122751-119122752
GRCh38: 8:118110512-118110513
21 EXT1 NM_000127.2(EXT1):c.1417+2T>A SNV Pathogenic 526300 rs1554578992 GRCh37: 8:118834702-118834702
GRCh38: 8:117822463-117822463
22 EXT1 NM_000127.2(EXT1):c.1036A>G (p.Arg346Gly) SNV Pathogenic 526301 rs1554580147 GRCh37: 8:118849367-118849367
GRCh38: 8:117837128-117837128
23 EXT1 NM_000127.2(EXT1):c.651_663del (p.Lys218fs) Deletion Pathogenic 526303 rs1554601504 GRCh37: 8:119122623-119122635
GRCh38: 8:118110384-118110396
24 EXT1 NM_000127.2(EXT1):c.218del (p.Asn73fs) Deletion Pathogenic 526304 rs1554601568 GRCh37: 8:119123068-119123068
GRCh38: 8:118110829-118110829
25 EXT1 NM_000127.2(EXT1):c.838A>G (p.Arg280Gly) SNV Pathogenic 526305 rs1554601483 GRCh37: 8:119122448-119122448
GRCh38: 8:118110209-118110209
26 EXT1 NM_000127.2(EXT1):c.846del (p.Leu283fs) Deletion Pathogenic 526306 rs1554601481 GRCh37: 8:119122440-119122440
GRCh38: 8:118110201-118110201
27 EXT1 NM_000127.2(EXT1):c.2104C>T (p.Gln702Ter) SNV Pathogenic 526307 rs1554656266 GRCh37: 8:118812088-118812088
GRCh38: 8:117799849-117799849
28 EXT1 NM_000127.2(EXT1):c.279C>G (p.Tyr93Ter) SNV Pathogenic 526308 rs1227875610 GRCh37: 8:119123007-119123007
GRCh38: 8:118110768-118110768
29 EXT1 NM_000127.2(EXT1):c.2059del (p.Ser687fs) Deletion Pathogenic 526309 rs1554656288 GRCh37: 8:118812133-118812133
GRCh38: 8:117799894-117799894
30 EXT1 NC_000008.11:g.(?_117799692)_(117837221_?)del Deletion Pathogenic 526310 GRCh37: 8:118811931-118849460
GRCh38: 8:117799692-117837221
31 EXT1 NM_000127.2(EXT1):c.369_370delinsT (p.Lys123fs) Indel Pathogenic 566150 rs1563659571 GRCh37: 8:119122916-119122917
GRCh38: 8:118110677-118110678
32 EXT1 NM_000127.2(EXT1):c.540_541TC[1] (p.Leu181fs) Microsatellite Pathogenic 566357 rs1563659474 GRCh37: 8:119122743-119122744
GRCh38: 8:118110504-118110505
33 EXT1 NM_000127.2(EXT1):c.1576A>T (p.Lys526Ter) SNV Pathogenic 566580 rs1563569983 GRCh37: 8:118830730-118830730
GRCh38: 8:117818491-117818491
34 EXT1 NM_000127.2(EXT1):c.1316C>G (p.Ser439Ter) SNV Pathogenic 568116 rs1563571318 GRCh37: 8:118834805-118834805
GRCh38: 8:117822566-117822566
35 EXT1 NM_000127.2(EXT1):c.282dup (p.Gly95fs) Duplication Pathogenic 568204 rs1563659649 GRCh37: 8:119123003-119123004
GRCh38: 8:118110764-118110765
36 EXT1 NM_000127.2(EXT1):c.1053_1056+1del Deletion Pathogenic 569431 rs1563575654 GRCh37: 8:118849346-118849350
GRCh38: 8:117837107-117837111
37 EXT1 NM_000127.2(EXT1):c.798del (p.Phe266fs) Deletion Pathogenic 569738 rs1563659352 GRCh37: 8:119122488-119122488
GRCh38: 8:118110249-118110249
38 EXT1 NM_000127.2(EXT1):c.1884-1G>A SNV Pathogenic 569935 rs1131691623 GRCh37: 8:118817133-118817133
GRCh38: 8:117804894-117804894
39 EXT1 NM_000127.2(EXT1):c.1065C>A (p.Cys355Ter) SNV Pathogenic 570990 rs11546829 GRCh37: 8:118847782-118847782
GRCh38: 8:117835543-117835543
40 EXT1 NM_000127.2(EXT1):c.988_989insTC (p.Asn330fs) Insertion Pathogenic 572097 rs1563575697 GRCh37: 8:118849414-118849415
GRCh38: 8:117837175-117837176
41 EXT1 NM_000127.2(EXT1):c.840G>C (p.Arg280Ser) SNV Pathogenic 576662 rs1563659325 GRCh37: 8:119122446-119122446
GRCh38: 8:118110207-118110207
42 EXT1 NM_000127.2(EXT1):c.103del (p.Ser35fs) Deletion Pathogenic 580698 rs1563659821 GRCh37: 8:119123183-119123183
GRCh38: 8:118110944-118110944
43 EXT1 NM_000127.2(EXT1):c.2004del (p.Pro669fs) Deletion Pathogenic 581676 rs1563872934 GRCh37: 8:118817012-118817012
GRCh38: 8:117804773-117804773
44 EXT1 NM_000127.2(EXT1):c.1056+1G>A SNV Pathogenic 583370 rs886039354 GRCh37: 8:118849346-118849346
GRCh38: 8:117837107-117837107
45 EXT1 NC_000008.11:g.(?_117830210)_(117837221_?)del Deletion Pathogenic 583827 GRCh37: 8:118842449-118849460
GRCh38: 8:117830210-117837221
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

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

72 (show all 11)
# Symbol AA change Variation ID SNP ID
1 EXT1 p.Arg280Gly VAR_002370 rs155460148
2 EXT1 p.Arg280Ser VAR_002371 rs156365932
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:

9 (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 9
2 COSM131096137 TSHR bone,skull,chondrosarcoma,NS c.1210G>T p.E404* 14:81143268-81143268 9
3 COSM86645205 RB1 bone,tibia,osteosarcoma,NS c.1499-1G>T p.? 13:48381246-48381246 9
4 COSM86624252 RB1 bone,tibia,osteosarcoma,NS c.1215+1G>A p.? 13:48373493-48373493 9
5 COSM97086777 PTPRT bone,skull,chondrosarcoma,NS c.878C>T p.A293V 20:42678141-42678141 9
6 COSM97185682 PTPRT bone,skull,chondrosarcoma,NS c.878C>T p.A293V 20:42678141-42678141 9
7 COSM96860001 PTPRT bone,skull,chondrosarcoma,NS c.878C>T p.A293V 20:42678141-42678141 9
8 COSM96641930 PTPRT bone,skull,chondrosarcoma,NS c.878C>T p.A293V 20:42678141-42678141 9
9 COSM143686194 PTPRT bone,skull,chondrosarcoma,NS c.665C>T p.A222V 20:42678141-42678141 9
10 COSM96745153 PTPRT bone,skull,chondrosarcoma,NS c.878C>T p.A293V 20:42678141-42678141 9
11 COSM96973805 PTPRT bone,skull,chondrosarcoma,NS c.878C>T p.A293V 20:42678141-42678141 9
12 COSM93299070 PTPRT bone,skull,chondrosarcoma,NS c.878C>T p.A293V 20:42678141-42678141 9
13 COSM90850096 KMT2C bone,femur,osteosarcoma,NS c.7214A>G p.E2405G 7:152180062-152180062 9
14 COSM88388477 KMT2C bone,femur,osteosarcoma,NS c.1181G>A p.C394Y 7:152265041-152265041 9
15 COSM88442911 KMT2C bone,femur,osteosarcoma,NS c.8174A>G p.E2725G 7:152177279-152177279 9
16 COSM88389816 KMT2C bone,femur,osteosarcoma,NS c.2459C>T p.T820I 7:152247975-152247975 9
17 COSM88442935 KMT2C bone,femur,osteosarcoma,NS c.1277C>A p.P426Q 7:152263038-152263038 9
18 COSM90850069 KMT2C bone,femur,osteosarcoma,NS c.9769G>A p.E3257K 7:152163808-152163808 9
19 COSM90792434 KMT2C bone,femur,osteosarcoma,NS c.2656C>T p.R886C 7:152235930-152235930 9
20 COSM90790761 KMT2C bone,femur,osteosarcoma,NS c.1181G>A p.C394Y 7:152265041-152265041 9
21 COSM88441962 KMT2C bone,femur,osteosarcoma,NS c.404C>T p.A135V 7:152315324-152315324 9
22 COSM90850919 KMT2C bone,femur,osteosarcoma,NS c.8174A>G p.E2725G 7:152177279-152177279 9
23 COSM88442922 KMT2C bone,femur,osteosarcoma,NS c.6632G>C p.R2211T 7:152181228-152181228 9
24 COSM90850929 KMT2C bone,femur,osteosarcoma,NS c.6632G>C p.R2211T 7:152181228-152181228 9
25 COSM88441911 KMT2C bone,femur,osteosarcoma,NS c.7318C>T p.P2440S 7:152179958-152179958 9
26 COSM90850116 KMT2C bone,femur,osteosarcoma,NS c.3119C>A p.P1040Q 7:152224474-152224474 9
27 COSM88387461 KMT2C bone,femur,osteosarcoma,NS c.2512G>A p.G838S 7:152247922-152247922 9
28 COSM90850903 KMT2C bone,femur,osteosarcoma,NS c.9622T>C p.S3208P 7:152167274-152167274 9
29 COSM88441921 KMT2C bone,femur,osteosarcoma,NS c.7214A>G p.E2405G 7:152180062-152180062 9
30 COSM90850111 KMT2C bone,femur,osteosarcoma,NS c.3155A>T p.K1052I 7:152224438-152224438 9
31 COSM90789498 KMT2C bone,femur,osteosarcoma,NS c.2512G>A p.G838S 7:152247922-152247922 9
32 COSM90792686 KMT2C bone,femur,osteosarcoma,NS c.2459C>T p.T820I 7:152247975-152247975 9
33 COSM88442892 KMT2C bone,femur,osteosarcoma,NS c.9622T>C p.S3208P 7:152167274-152167274 9
34 COSM88441896 KMT2C bone,femur,osteosarcoma,NS c.9769G>A p.E3257K 7:152163808-152163808 9
35 COSM88441903 KMT2C bone,femur,osteosarcoma,NS c.9182A>G p.Q3061R 7:152176271-152176271 9
36 COSM90809622 KMT2C bone,femur,osteosarcoma,NS c.2468T>C p.I823T 7:152247966-152247966 9
37 COSM88442928 KMT2C bone,femur,osteosarcoma,NS c.5459C>G p.S1820C 7:152182401-152182401 9
38 COSM88403451 KMT2C bone,femur,osteosarcoma,NS c.10383T>G p.D3461E 7:152163194-152163194 9
39 COSM88441945 KMT2C bone,femur,osteosarcoma,NS c.3119C>A p.P1040Q 7:152224474-152224474 9
40 COSM88442903 KMT2C bone,femur,osteosarcoma,NS c.9617G>C p.R3206T 7:152167279-152167279 9
41 COSM90850945 KMT2C bone,femur,osteosarcoma,NS c.1277C>A p.P426Q 7:152263038-152263038 9
42 COSM90850106 KMT2C bone,femur,osteosarcoma,NS c.5669G>C p.R1890P 7:152182191-152182191 9
43 COSM90850089 KMT2C bone,femur,osteosarcoma,NS c.7318C>T p.P2440S 7:152179958-152179958 9
44 COSM88441951 KMT2C bone,femur,osteosarcoma,NS c.3029G>T p.C1010F 7:152224564-152224564 9
45 COSM90788208 KMT2C bone,femur,osteosarcoma,NS c.925C>T p.P309S 7:152273792-152273792 9
46 COSM88403468 KMT2C bone,femur,osteosarcoma,NS c.2468T>C p.I823T 7:152247966-152247966 9
47 COSM90850133 KMT2C bone,femur,osteosarcoma,NS c.404C>T p.A135V 7:152315324-152315324 9
48 COSM88389429 KMT2C bone,femur,osteosarcoma,NS c.2656C>T p.R886C 7:152235930-152235930 9
49 COSM88386447 KMT2C bone,femur,osteosarcoma,NS c.925C>T p.P309S 7:152273792-152273792 9
50 COSM88441939 KMT2C bone,femur,osteosarcoma,NS c.3155A>T p.K1052I 7:152224438-152224438 9

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

Cellular components related to Exostoses, Multiple, Type I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Golgi membrane GO:0000139 8.62 EXT2 EXT1

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 protein glycosylation GO:0006486 9.57 EXT2 EXT1
2 ossification GO:0001503 9.56 EXT2 EXT1
3 regulation of blood pressure GO:0008217 9.55 EXT2 EXT1
4 gene expression GO:0010467 9.54 EXT2 EXT1
5 glycosaminoglycan biosynthetic process GO:0006024 9.52 EXT2 EXT1
6 cellular response to fibroblast growth factor stimulus GO:0044344 9.51 EXT2 EXT1
7 vasodilation GO:0042311 9.49 EXT2 EXT1
8 sulfation GO:0051923 9.48 EXT2 EXT1
9 sodium ion homeostasis GO:0055078 9.46 EXT2 EXT1
10 heart contraction GO:0060047 9.43 EXT2 EXT1
11 heparan sulfate proteoglycan biosynthetic process GO:0015012 9.4 EXT2 EXT1
12 heparin biosynthetic process GO:0030210 9.37 EXT2 EXT1
13 multicellular organismal water homeostasis GO:0050891 9.32 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 Exostoses, Multiple, Type I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.43 EXT2 EXT1
2 protein heterodimerization activity GO:0046982 9.4 EXT2 EXT1
3 transferase activity, transferring glycosyl groups GO:0016757 9.37 EXT2 EXT1
4 acetylglucosaminyltransferase activity GO:0008375 9.32 EXT2 EXT1
5 glucuronosyltransferase activity GO:0015020 9.26 EXT2 EXT1
6 glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity GO:0050508 9.16 EXT2 EXT1
7 N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity GO:0050509 8.96 EXT2 EXT1
8 heparan sulfate N-acetylglucosaminyltransferase activity GO:0042328 8.62 EXT2 EXT1

Sources for Exostoses, Multiple, Type I

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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