EXT1
MCID: EXS019
MIFTS: 47

Exostoses, Multiple, Type I (EXT1)

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

Aliases & Classifications for Exostoses, Multiple, Type I

MalaCards integrated aliases for Exostoses, Multiple, Type I:

Name: Exostoses, Multiple, Type I 58
Exostoses, Multiple, Type 1 58 77 54 13
Multiple Cartilaginous Exostoses 58 60
Multiple Osteochondromas 58 60
Osteochondromatosis 58 74
Ext1 58 76
Hereditary Multiple Exostoses 1 76
Hereditary Multiple Exostoses 74
Osteochondromas, Multiple 41
Bessel-Hagen Disease 60
Diaphyseal Aclasis 58
Enchondromatosis 74
Ext 58

Characteristics:

Orphanet epidemiological data:

60
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:

58
Inheritance:
autosomal dominant

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


HPO:

33
exostoses, multiple, type i:
Onset and clinical course juvenile onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Exostoses, Multiple, Type I

OMIM : 58 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)

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 Enalaprilat and Enalapril have been mentioned in the context of this disorder. Affiliated tissues include bone, t cells and b cells, and related phenotypes are failure to thrive and abnormality of tibia morphology

UniProtKB/Swiss-Prot : 76 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 : 77 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 84)
# Related Disease Score Top Affiliating Genes
1 hereditary multiple exostoses 32.8 EXT1 EXT2
2 hereditary multiple osteochondromas 32.7 EXT1 EXT2
3 osteochondroma 32.6 EXT1 EXT2
4 chondrosarcoma 32.1 EXT1 EXT2
5 exostosis 32.1 EXT1 EXT2
6 dysplasia epiphysealis hemimelica 31.4 EXT1 EXT2
7 multiple enchondromatosis, maffucci type 31.3 EXT1 EXT2
8 enchondromatosis, multiple, ollier type 31.2 EXT1 EXT2
9 bone disease 31.2 EXT1 EXT2
10 bone remodeling disease 30.9 EXT1 EXT2
11 carpotarsal osteochondromatosis 12.5
12 trichorhinophalangeal syndrome, type ii 12.1
13 synovial chondromatosis 11.7
14 dysplasia epiphysealis hemimelica with chondromas and osteochondromas 11.6
15 exostoses, multiple, type ii 11.6
16 osteopoikilosis 11.5
17 trichorhinophalangeal syndrome 11.4
18 exostoses, multiple, type iii 11.3
19 trichorhinophalangeal syndrome, type i 11.1
20 excessive tearing 11.1
21 extratemporal epilepsy 11.1
22 juvenile astrocytoma 11.1
23 atrophic rhinitis 11.1
24 periosteal chondrosarcoma 11.1
25 acute inflammation of lacrimal passage 11.1
26 chronic dacryocystitis 11.1
27 dacryocystitis 11.1
28 peripheral dysostosis 10.2
29 dysostosis 10.2
30 achalasia 10.2
31 sarcoma 10.2
32 calcinosis 10.1
33 skeletal dysplasias 10.1
34 metachondromatosis 10.0
35 otitis externa 10.0
36 legg-calve-perthes disease 10.0
37 joint disorders 10.0
38 osteoarthritis 10.0
39 frozen shoulder 10.0
40 synovitis 10.0
41 bursitis 10.0
42 arthropathy 10.0
43 spindle cell sarcoma 10.0
44 neuropathy 10.0
45 hepatocellular carcinoma 10.0
46 cornelia de lange syndrome 1 10.0
47 osteoporosis 10.0
48 autism 10.0
49 myeloma, multiple 10.0
50 leukemia, acute lymphoblastic 10.0

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:

60 33 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 60 33 hallmark (90%) Very frequent (99-80%) HP:0001508
2 abnormality of tibia morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0002992
3 abnormality of the humerus 60 33 hallmark (90%) Very frequent (99-80%) HP:0003063
4 multiple exostoses 60 33 hallmark (90%) Very frequent (99-80%) HP:0002762
5 genu valgum 60 33 frequent (33%) Frequent (79-30%) HP:0002857
6 muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0001324
7 abnormality of the dentition 60 33 frequent (33%) Frequent (79-30%) HP:0000164
8 anteverted nares 60 33 frequent (33%) Frequent (79-30%) HP:0000463
9 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
10 cranial nerve paralysis 60 33 frequent (33%) Frequent (79-30%) HP:0006824
11 abnormality of the metaphysis 60 33 frequent (33%) Frequent (79-30%) HP:0000944
12 micromelia 60 33 frequent (33%) Frequent (79-30%) HP:0002983
13 madelung deformity 60 33 frequent (33%) Frequent (79-30%) HP:0003067
14 abnormality of femur morphology 60 33 frequent (33%) Frequent (79-30%) HP:0002823
15 bone pain 60 33 frequent (33%) Frequent (79-30%) HP:0002653
16 hypoplasia of the ulna 60 33 frequent (33%) Frequent (79-30%) HP:0003022
17 radial bowing 60 33 frequent (33%) Frequent (79-30%) HP:0002986
18 avascular necrosis 33 frequent (33%) HP:0010885
19 osteoarthritis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002758
20 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
21 abnormal pyramidal sign 60 33 occasional (7.5%) Occasional (29-5%) HP:0007256
22 synostosis of joints 60 33 occasional (7.5%) Occasional (29-5%) HP:0100240
23 hemiplegia/hemiparesis 60 33 occasional (7.5%) Occasional (29-5%) HP:0004374
24 elbow dislocation 60 33 occasional (7.5%) Occasional (29-5%) HP:0003042
25 recurrent fractures 60 33 occasional (7.5%) Occasional (29-5%) HP:0002757
26 osteolysis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002797
27 chondrosarcoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0006765
28 abnormal pericardium morphology 60 33 occasional (7.5%) Occasional (29-5%) HP:0001697
29 pelvic bone exostoses 60 33 occasional (7.5%) Occasional (29-5%) HP:0003276
30 dilatation 33 occasional (7.5%) HP:0002617
31 aseptic necrosis 60 Frequent (79-30%)
32 exostoses 60 Frequent (79-30%)
33 neoplasm 60 Occasional (29-5%)
34 abnormality of the foot 33 HP:0001760
35 abnormality of pelvic girdle bone morphology 60 Occasional (29-5%)
36 abnormality of the upper limb 60 Frequent (79-30%)
37 coxa vara 33 HP:0002812
38 short metacarpal 33 HP:0010049
39 aneurysm 60 Occasional (29-5%)
40 rib exostoses 33 HP:0000896
41 peripheral nerve compression 33 HP:0003406
42 scapular exostoses 33 HP:0000918
43 protuberances at ends of long bones 33 HP:0003105
44 madelung-like forearm deformities 33 HP:0003068
45 cervical myelopathy 33 HP:0002318

Symptoms via clinical synopsis from OMIM:

58
Skeletal Limbs:
genu valgum
short metacarpal
protuberances at ends of long bones
exostoses in juxtaepiphyseal regions of long bones
madelung-like forearm deformities

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

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):

(show all 49)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Enalaprilat Approved Phase 3 76420-72-9 6917719
2
Enalapril Approved, Vet_approved Phase 3 75847-73-3 40466924 5362032
3
Losartan Approved Phase 3 114798-26-4 3961
4
Amlodipine Approved Phase 3 88150-42-9 2162
5
Angiotensin II Approved, Investigational Phase 3 11128-99-7, 68521-88-0, 4474-91-3 172198
6
Vorinostat Approved, Investigational Phase 3,Phase 1 149647-78-9 5311
7
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
8
Maleic acid Experimental, Investigational Phase 3 110-17-8, 110-16-7 444972
9 Anti-Arrhythmia Agents Phase 3
10 Calcium, Dietary Phase 3
11 Vasodilator Agents Phase 3
12 Angiotensin Receptor Antagonists Phase 3
13 Angiotensinogen Phase 3
14 Giapreza Phase 3
15 Antihypertensive Agents Phase 3
16 HIV Protease Inhibitors Phase 3
17
protease inhibitors Phase 3
18 Angiotensin-Converting Enzyme Inhibitors Phase 3
19 calcium channel blockers Phase 3
20 Hormones Phase 3
21 Angiotensin II Type 1 Receptor Blockers Phase 3
22 Histone Deacetylase Inhibitors Phase 3,Phase 1
23 Immunologic Factors Phase 3
24 Vaccines Phase 3
25
Insulin glargine Approved Phase 2 160337-95-1
26
Zinc Approved, Investigational Phase 2 7440-66-6 32051
27
Metformin Approved Phase 2 657-24-9 14219 4091
28
Tretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4 444795 5538
29 Insulin, Globin Zinc Phase 2,Not Applicable
30 Hypoglycemic Agents Phase 2
31 insulin Phase 2,Not Applicable
32 Phosphodiesterase Inhibitors Phase 2
33 Phosphodiesterase 4 Inhibitors Phase 2
34 MK 0873 Phase 2
35 Cholinergic Antagonists Phase 2
36
Bortezomib Approved, Investigational Phase 1 179324-69-7 387447 93860
37
Decitabine Approved, Investigational Phase 1 2353-33-5 451668
38 Antimetabolites Phase 1
39 Antimetabolites, Antineoplastic Phase 1
40
Pimecrolimus Approved, Investigational 137071-32-0 17753757 6447131
41 Dermatologic Agents
42 Antirheumatic Agents
43 Peripheral Nervous System Agents
44 Analgesics
45 Calcineurin Inhibitors
46 Immunosuppressive Agents
47 Anti-Inflammatory Agents
48 Analgesics, Non-Narcotic
49 Anti-Inflammatory Agents, Non-Steroidal

Interventional clinical trials:

(show all 18)
# Name Status NCT ID Phase Drugs
1 An Extension Study Designed to Assess Effects of Losartan on Proteinuria in Pediatric Populations (MK-0954-326 AM1,EXT1(AM2)) Completed NCT00568178 Phase 3 Losartan Potassium;Comparator: amlodipine besylate;Enalapril Maleate
2 Suberoylanilide Hydroxamic Acid (Vorinostat, MK-0683) Versus Placebo in Advanced Malignant Pleural Mesothelioma (0683-014 AM5, EXT1) Completed NCT00128102 Phase 3 vorinostat;Placebo
3 An Investigational Study of Gardasil™ (qHPV Vaccine) in Reducing the Incidence of Anogenital Warts in Young Men (V501-020) Completed NCT00090285 Phase 3
4 A Study to Evaluate the Safety, Immune Response, and Efficacy of Gardasil (V501, qHPV) in Mid-Adult Women (V501-019) Completed NCT00090220 Phase 3
5 An Efficacy and Safety Study of Palovarotene for the Treatment of MO Recruiting NCT03442985 Phase 2 Palovarotene 2.5 mg;Palovarotene 5.0 mg
6 Dose Range Finding Study of MK-0941 in Patients With Type 2 Diabetes Mellitus on Insulin (MK-0941-007 AM3 EXT1 AM1)(TERMINATED) Terminated NCT00767000 Phase 2 MK-0941;Comparator: Placebo;Metformin
7 An Extension Study Evaluating Safety and Efficacy of Proellex® In Women Who Have Previously Completed ZPU 003 Ext Terminated NCT00958893 Phase 2 25 mg Proellex
8 An Investigational Drug Study In Patients With COPD (Chronic Obstructive Pulmonary Disease) (MK-0873-005) Terminated NCT00132730 Phase 2 MK-0873 2.5 mg;MK-0873 1.25 mg;MK-0873 0.75 mg;Placebo to MK-0873;Usual Care
9 Vorinostat (MK-0683) Phase I Study in Cutaneous T-Cell Lymphoma (CTCL) Patients (MK-0683-089 EXT1) Completed NCT00771472 Phase 1 vorinostat
10 Phase 1 Study of Vorinostat and Bortezomib in Multiple Myeloma (MK-0683-015 EXT 1 (AM1)) Completed NCT00111813 Phase 1 vorinostat;bortezomib
11 Phase I Trial of Vorinostat (MK-0683, SAHA) in Combination With Decitabine in Patients With AML or MDS (MK-0683-055 EXT1) Completed NCT00479232 Phase 1 vorinostat;decitabine
12 Gene Mutations and Orthopaedic Symptoms Correlation of Multiple Hereditary Exostoses: Multicentre Project Suspended NCT00474331
13 The Health-Related Quality of Life in Patients With Hereditary Multiple Exostoses Completed NCT00474448
14 Establishing the Genetic Profile of Multiple Hereditary Exostoses (HME) in Families of BC Terminated NCT00473850
15 Exercise in Type 1 Diabetes Mellitus Completed NCT02075567 Not Applicable
16 NGS Strategy Effectiveness in Molecular Diagnosis Completed NCT03557567
17 Follow-Up Study of Patients Previously Treated With Pimecrolimus Tablets for Atopic Dermatitis Completed NCT00098150
18 Effect of Neuromuscular Electrical Stimulation Combined With Blood Flow Restriction on Muscular and Cardiovascular Function Not yet recruiting NCT03662555 Not Applicable

Search NIH Clinical Center for Exostoses, Multiple, Type I

Genetic Tests for Exostoses, Multiple, Type I

Anatomical Context for Exostoses, Multiple, Type I

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

42
Bone, T Cells, B Cells

Publications for Exostoses, Multiple, Type I

Articles related to Exostoses, Multiple, Type I:

# Title Authors Year
1
Imaging diagnosis: Multiple cartilaginous exostoses and calcinosis circumscripta occurring simultaneously in the cervical spine of a dog. ( 23763506 )
2014
2
Correction and lengthening for deformities of the forearm in multiple cartilaginous exostoses. ( 17013733 )
2006
3
[The Taniguchi classification in cases of multiple cartilaginous exostoses]. ( 10495558 )
1999
4
[A combination of multiple cartilaginous exostoses and enchondromatosis of bone in a family]. ( 2785276 )
1989
5
Large phalangeal exostosis in multiple cartilaginous exostoses (diaphyseal aclasia)--a case report. ( 3632531 )
1987
6
Selected skeletal dysplasias: craniomandibular osteopathy, multiple cartilaginous exostoses, and hypertrophic osteodystrophy. ( 6346655 )
1983

Variations for Exostoses, Multiple, Type I

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

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

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

6 (show top 50) (show all 111)
# Gene Variation Type Significance SNP ID Assembly Location
1 EXT1 EXT1, 1-BP DEL, 2120T deletion Pathogenic
2 EXT1 EXT1, 1-BP DEL, 1364C deletion Pathogenic
3 EXT1 EXT1, 4-BP INS, NT1035 insertion Pathogenic
4 EXT1 NM_000127.2(EXT1): c.1019G> T (p.Arg340Leu) single nucleotide variant Pathogenic rs119103287 GRCh37 Chromosome 8, 118849384: 118849384
5 EXT1 NM_000127.2(EXT1): c.1019G> T (p.Arg340Leu) single nucleotide variant Pathogenic rs119103287 GRCh38 Chromosome 8, 117837145: 117837145
6 EXT1 NM_000127.2(EXT1): c.1016G> A (p.Gly339Asp) single nucleotide variant Pathogenic rs119103288 GRCh37 Chromosome 8, 118849387: 118849387
7 EXT1 NM_000127.2(EXT1): c.1016G> A (p.Gly339Asp) single nucleotide variant Pathogenic rs119103288 GRCh38 Chromosome 8, 117837148: 117837148
8 EXT1 NM_000127.2(EXT1): c.357C> A (p.Tyr119Ter) single nucleotide variant Pathogenic rs119103289 GRCh37 Chromosome 8, 119122929: 119122929
9 EXT1 NM_000127.2(EXT1): c.357C> A (p.Tyr119Ter) single nucleotide variant Pathogenic rs119103289 GRCh38 Chromosome 8, 118110690: 118110690
10 EXT1 NM_000127.2(EXT1): c.1018C> T (p.Arg340Cys) single nucleotide variant Pathogenic rs119103290 GRCh37 Chromosome 8, 118849385: 118849385
11 EXT1 NM_000127.2(EXT1): c.1018C> T (p.Arg340Cys) single nucleotide variant Pathogenic rs119103290 GRCh38 Chromosome 8, 117837146: 117837146
12 EXT1 EXT1, IVS1DS, G-C single nucleotide variant Pathogenic
13 EXT1 EXT1, 1-BP INS, 1664A insertion Pathogenic
14 EXT1 EXT1, IVS1DS, 4-BP DEL deletion Pathogenic
15 EXT1 GRCh37/hg19 8q24.11(chr8: 118825108-119054752)x3 copy number gain Pathogenic GRCh37 Chromosome 8, 118825108: 119054752
16 EXT1 NM_000127.2(EXT1): c.117A> G (p.Glu39=) single nucleotide variant Benign rs78429222 GRCh37 Chromosome 8, 119123169: 119123169
17 EXT1 NM_000127.2(EXT1): c.117A> G (p.Glu39=) single nucleotide variant Benign rs78429222 GRCh38 Chromosome 8, 118110930: 118110930
18 EXT1 NM_000127.2(EXT1): c.114A> G (p.Glu38=) single nucleotide variant Benign/Likely benign rs17506447 GRCh37 Chromosome 8, 119123172: 119123172
19 EXT1 NM_000127.2(EXT1): c.114A> G (p.Glu38=) single nucleotide variant Benign/Likely benign rs17506447 GRCh38 Chromosome 8, 118110933: 118110933
20 EXT1 NM_000127.2(EXT1): c.1469delT (p.Leu490Argfs) deletion Pathogenic rs886039356 GRCh37 Chromosome 8, 118831982: 118831982
21 EXT1 NM_000127.2(EXT1): c.1469delT (p.Leu490Argfs) deletion Pathogenic rs886039356 GRCh38 Chromosome 8, 117819743: 117819743
22 EXT1 NM_000127.2(EXT1): c.1019G> A (p.Arg340His) single nucleotide variant Pathogenic rs119103287 GRCh37 Chromosome 8, 118849384: 118849384
23 EXT1 NM_000127.2(EXT1): c.1019G> A (p.Arg340His) single nucleotide variant Pathogenic rs119103287 GRCh38 Chromosome 8, 117837145: 117837145
24 EXT1 NM_000127.2(EXT1): c.538_539delAG (p.Leu181Profs) deletion Pathogenic rs886039486 GRCh37 Chromosome 8, 119122747: 119122748
25 EXT1 NM_000127.2(EXT1): c.538_539delAG (p.Leu181Profs) deletion Pathogenic rs886039486 GRCh38 Chromosome 8, 118110508: 118110509
26 EXT1 NM_000127.2(EXT1): c.1468dupC (p.Leu490Profs) duplication Pathogenic rs886039355 GRCh37 Chromosome 8, 118831983: 118831983
27 EXT1 NM_000127.2(EXT1): c.1468dupC (p.Leu490Profs) duplication Pathogenic rs886039355 GRCh38 Chromosome 8, 117819744: 117819744
28 EXT1 NM_000127.2(EXT1): c.854dupA (p.His285Glnfs) duplication Pathogenic rs1554601476 GRCh37 Chromosome 8, 119122432: 119122432
29 EXT1 NM_000127.2(EXT1): c.854dupA (p.His285Glnfs) duplication Pathogenic rs1554601476 GRCh38 Chromosome 8, 118110193: 118110193
30 EXT1 NM_000127.2(EXT1): c.992C> A (p.Ala331Asp) single nucleotide variant Likely pathogenic rs1554580153 GRCh38 Chromosome 8, 117837172: 117837172
31 EXT1 NM_000127.2(EXT1): c.992C> A (p.Ala331Asp) single nucleotide variant Likely pathogenic rs1554580153 GRCh37 Chromosome 8, 118849411: 118849411
32 EXT1 NM_000127.2(EXT1): c.1633-34_1670del72 deletion Pathogenic rs1554657940 GRCh38 Chromosome 8, 117812924: 117812995
33 EXT1 NM_000127.2(EXT1): c.1633-34_1670del72 deletion Pathogenic rs1554657940 GRCh37 Chromosome 8, 118825163: 118825234
34 EXT1 NM_000127.2(EXT1): c.2101C> T (p.Arg701Ter) single nucleotide variant Pathogenic rs1363815113 GRCh37 Chromosome 8, 118812091: 118812091
35 EXT1 NM_000127.2(EXT1): c.2101C> T (p.Arg701Ter) single nucleotide variant Pathogenic rs1363815113 GRCh38 Chromosome 8, 117799852: 117799852
36 EXT1 NM_000127.2(EXT1): c.1810G> T (p.Glu604Ter) single nucleotide variant Pathogenic rs1554657437 GRCh37 Chromosome 8, 118819529: 118819529
37 EXT1 NM_000127.2(EXT1): c.1810G> T (p.Glu604Ter) single nucleotide variant Pathogenic rs1554657437 GRCh38 Chromosome 8, 117807290: 117807290
38 EXT1 NM_000127.2(EXT1): c.521del (p.Leu174Terfs) deletion Pathogenic rs1554601526 GRCh37 Chromosome 8, 119122765: 119122765
39 EXT1 NM_000127.2(EXT1): c.521del (p.Leu174Terfs) deletion Pathogenic rs1554601526 GRCh38 Chromosome 8, 118110526: 118110526
40 EXT1 NM_000127.2(EXT1): c.2059delT (p.Ser687Leufs) deletion Pathogenic rs1554656288 GRCh37 Chromosome 8, 118812133: 118812133
41 EXT1 NM_000127.2(EXT1): c.2059delT (p.Ser687Leufs) deletion Pathogenic rs1554656288 GRCh38 Chromosome 8, 117799894: 117799894
42 EXT1 NM_000127.2(EXT1): c.1417+2T> A single nucleotide variant Pathogenic rs1554578992 GRCh38 Chromosome 8, 117822463: 117822463
43 EXT1 NM_000127.2(EXT1): c.1417+2T> A single nucleotide variant Pathogenic rs1554578992 GRCh37 Chromosome 8, 118834702: 118834702
44 EXT1 NM_000127.2(EXT1): c.2104C> T (p.Gln702Ter) single nucleotide variant Likely pathogenic rs1554656266 GRCh38 Chromosome 8, 117799849: 117799849
45 EXT1 NM_000127.2(EXT1): c.2104C> T (p.Gln702Ter) single nucleotide variant Likely pathogenic rs1554656266 GRCh37 Chromosome 8, 118812088: 118812088
46 EXT1 NM_000127.2(EXT1): c.1319G> A (p.Arg440His) single nucleotide variant Uncertain significance rs144550328 GRCh38 Chromosome 8, 117822563: 117822563
47 EXT1 NM_000127.2(EXT1): c.1319G> A (p.Arg440His) single nucleotide variant Uncertain significance rs144550328 GRCh37 Chromosome 8, 118834802: 118834802
48 EXT1 NM_000127.2(EXT1): c.838A> G (p.Arg280Gly) single nucleotide variant Pathogenic rs1554601483 GRCh38 Chromosome 8, 118110209: 118110209
49 EXT1 NM_000127.2(EXT1): c.838A> G (p.Arg280Gly) single nucleotide variant Pathogenic rs1554601483 GRCh37 Chromosome 8, 119122448: 119122448
50 EXT1 NM_000127.2(EXT1): c.533_534dup (p.Gln179Cysfs) duplication Pathogenic rs1554601525 GRCh38 Chromosome 8, 118110513: 118110514

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 EXT1 EXT2

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

# Name GO ID Score Top Affiliating Genes
1 protein glycosylation GO:0006486 9.37 EXT1 EXT2
2 ossification GO:0001503 9.32 EXT1 EXT2
3 glycosaminoglycan biosynthetic process GO:0006024 9.26 EXT1 EXT2
4 heparan sulfate proteoglycan biosynthetic process GO:0015012 9.16 EXT1 EXT2
5 heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process GO:0015014 8.96 EXT1 EXT2
6 cellular polysaccharide biosynthetic process GO:0033692 8.62 EXT1 EXT2

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 9.4 EXT1 EXT2
2 transferase activity, transferring glycosyl groups GO:0016757 9.37 EXT1 EXT2
3 glucuronosyltransferase activity GO:0015020 9.32 EXT1 EXT2
4 acetylglucosaminyltransferase activity GO:0008375 9.26 EXT1 EXT2
5 heparan sulfate N-acetylglucosaminyltransferase activity GO:0042328 9.16 EXT1 EXT2
6 glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity GO:0050508 8.96 EXT1 EXT2
7 N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity GO:0050509 8.62 EXT1 EXT2

Sources for Exostoses, Multiple, Type I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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