EXT1
MCID: EXS019
MIFTS: 46

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 57
Exostoses, Multiple, Type 1 57 76 53 13
Multiple Cartilaginous Exostoses 57 59
Multiple Osteochondromas 57 59
Osteochondromatosis 57 73
Ext1 57 75
Hereditary Multiple Exostoses 1 75
Hereditary Multiple Exostoses 73
Osteochondromas, Multiple 40
Bessel-Hagen Disease 59
Diaphyseal Aclasis 57
Enchondromatosis 73
Ext; Ext1 57
Ext 57

Characteristics:

Orphanet epidemiological data:

59
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
Inheritance:
autosomal dominant

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


HPO:

32
exostoses, multiple, type i:
Onset and clinical course juvenile onset
Inheritance autosomal dominant inheritance


Classifications:



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)

MalaCards based summary : Exostoses, Multiple, Type I, also known as exostoses, multiple, type 1, is related to multiple enchondromatosis, maffucci type and enchondromatosis, multiple, ollier type, 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 Losartan and Amlodipine have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and t cells, and related phenotypes are osteoarthritis and genu valgum

UniProtKB/Swiss-Prot : 75 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 : 76 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 69)
# Related Disease Score Top Affiliating Genes
1 multiple enchondromatosis, maffucci type 31.3 EXT2 EXT1
2 enchondromatosis, multiple, ollier type 31.3 EXT2 EXT1
3 bone remodeling disease 31.2 EXT2 EXT1
4 hereditary multiple exostoses 30.2 EXT2 EXT1
5 osteochondroma 30.0 EXT2 EXT1
6 exostosis 29.9 EXT2 EXT1
7 chondrosarcoma 29.8 EXT2 EXT1
8 dysplasia epiphysealis hemimelica 29.8 EXT2 EXT1
9 hereditary multiple osteochondromas 29.8 EXT2 EXT1
10 bone disease 29.5 EXT2 EXT1
11 carpotarsal osteochondromatosis 12.5
12 synovial chondromatosis 12.1
13 trichorhinophalangeal syndrome, type ii 12.0
14 dysplasia epiphysealis hemimelica with chondromas and osteochondromas 11.6
15 osteopoikilosis 11.5
16 trichorhinophalangeal syndrome 11.4
17 exostoses, multiple, type iii 11.3
18 exostoses, multiple, type ii 11.2
19 myeloma, multiple 11.2
20 hypertrichosis 11.1
21 trichorhinophalangeal syndrome, type i 11.0
22 muenke syndrome 11.0
23 extratemporal epilepsy 11.0
24 juxtacortical chondroma 11.0
25 juvenile astrocytoma 11.0
26 atrophic rhinitis 11.0
27 periosteal chondrosarcoma 11.0
28 peroneal nerve paralysis 11.0
29 acute inflammation of lacrimal passage 11.0
30 chronic inflammation of lacrimal passage 11.0
31 chronic dacryocystitis 11.0
32 dacryocystitis 11.0
33 connective tissue cancer 10.9
34 peripheral dysostosis 10.2
35 dysostosis 10.2
36 achalasia 10.2
37 sarcoma 10.1
38 calcinosis 10.1
39 skeletal dysplasias 10.1
40 joint disorders 10.0
41 synovitis 10.0
42 bursitis 10.0
43 arthropathy 10.0
44 spindle cell sarcoma 10.0
45 neuropathy 10.0
46 metachondromatosis 10.0
47 otitis externa 10.0
48 hepatocellular carcinoma 10.0
49 osteoporosis 10.0
50 autism 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Exostoses, Multiple, Type I:

59 32 (show top 50) (show all 56)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteoarthritis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002758
2 genu valgum 59 32 frequent (33%) Frequent (79-30%) HP:0002857
3 muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0001324
4 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
5 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
6 aseptic necrosis 59 32 frequent (33%) Frequent (79-30%) HP:0010885
7 synostosis of joints 59 32 occasional (7.5%) Occasional (29-5%) HP:0100240
8 abnormality of the dentition 59 32 frequent (33%) Frequent (79-30%) HP:0000164
9 anteverted nares 59 32 frequent (33%) Frequent (79-30%) HP:0000463
10 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
11 cranial nerve paralysis 59 32 frequent (33%) Frequent (79-30%) HP:0006824
12 hemiplegia/hemiparesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004374
13 abnormality of the metaphysis 59 32 hallmark (90%) Frequent (79-30%) HP:0000944
14 micromelia 59 32 hallmark (90%) Frequent (79-30%) HP:0002983
15 madelung deformity 59 32 frequent (33%) Frequent (79-30%) HP:0003067
16 abnormality of femur morphology 59 32 frequent (33%) Frequent (79-30%) HP:0002823
17 elbow dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0003042
18 recurrent fractures 59 32 occasional (7.5%) Occasional (29-5%) HP:0002757
19 bone pain 59 32 frequent (33%) Frequent (79-30%) HP:0002653
20 osteolysis 59 32 hallmark (90%) Occasional (29-5%) HP:0002797
21 chondrosarcoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0006765
22 hypoplasia of the ulna 59 32 frequent (33%) Frequent (79-30%) HP:0003022
23 abnormality of tibia morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0002992
24 abnormal pericardium morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0001697
25 radial bowing 59 32 frequent (33%) Frequent (79-30%) HP:0002986
26 abnormality of the humerus 59 32 hallmark (90%) Very frequent (99-80%) HP:0003063
27 multiple exostoses 59 32 hallmark (90%) Very frequent (99-80%) HP:0002762
28 pelvic bone exostoses 59 32 occasional (7.5%) Occasional (29-5%) HP:0003276
29 precocious puberty 32 occasional (7.5%) HP:0000826
30 abnormal pyramidal signs 59 Occasional (29-5%)
31 joint stiffness 32 frequent (33%) HP:0001387
32 subcutaneous nodule 32 frequent (33%) HP:0001482
33 anemia 32 occasional (7.5%) HP:0001903
34 exostoses 59 Frequent (79-30%)
35 neoplasm 59 Occasional (29-5%)
36 platyspondyly 32 occasional (7.5%) HP:0000926
37 abnormality of the foot 32 HP:0001760
38 venous thrombosis 32 occasional (7.5%) HP:0004936
39 skin ulcer 32 occasional (7.5%) HP:0200042
40 visceral angiomatosis 32 hallmark (90%) HP:0100761
41 abnormality of pelvic girdle bone morphology 59 Occasional (29-5%)
42 multiple enchondromatosis 32 hallmark (90%) HP:0005701
43 abnormality of coagulation 32 occasional (7.5%) HP:0001928
44 abnormality of the upper limb 59 Frequent (79-30%)
45 coxa vara 32 HP:0002812
46 short metacarpal 32 HP:0010049
47 aneurysm 59 Occasional (29-5%)
48 lymphangioma 32 occasional (7.5%) HP:0100764
49 rib exostoses 32 HP:0000896
50 peripheral nerve compression 32 HP:0003406

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 48)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Losartan Approved Phase 3 114798-26-4 3961
2
Amlodipine Approved Phase 3 88150-42-9 2162
3
Angiotensin II Approved, Investigational Phase 3 11128-99-7, 68521-88-0, 4474-91-3 172198 65143
4
Enalapril Approved, Vet_approved Phase 3 75847-73-3 5362032 40466924
5
Enalaprilat Approved Phase 3 76420-72-9 6917719
6
Vorinostat Approved, Investigational Phase 3,Phase 1 149647-78-9 5311
7
Maleic acid Experimental Phase 3 110-16-7 444266
8 Vasodilator Agents Phase 3
9 Antihypertensive Agents Phase 3
10 calcium channel blockers Phase 3
11 Angiotensinogen Phase 3
12 Angiotensin II Type 1 Receptor Blockers Phase 3
13 Anti-Arrhythmia Agents Phase 3
14
protease inhibitors Phase 3
15 Calcium, Dietary Phase 3
16 Angiotensin Receptor Antagonists Phase 3
17 HIV Protease Inhibitors Phase 3
18 Angiotensin-Converting Enzyme Inhibitors Phase 3
19 Histone Deacetylase Inhibitors Phase 3,Phase 1
20 Vaccines Phase 3,Phase 1
21 Immunologic Factors Phase 3,Phase 1
22
Metformin Approved Phase 2 657-24-9 14219 4091
23
Zinc Approved, Investigational Phase 2 7440-66-6
24
Insulin Glargine Approved Phase 2 160337-95-1
25
Tretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4 5538 444795
26 Insulin, Globin Zinc Phase 2,Not Applicable
27 insulin Phase 2,Not Applicable
28 Hypoglycemic Agents Phase 2
29 Phosphodiesterase Inhibitors Phase 2
30 MK 0873 Phase 2
31 Cholinergic Antagonists Phase 2
32 Phosphodiesterase 4 Inhibitors Phase 2
33
Bortezomib Approved, Investigational Phase 1 179324-69-7 387447 93860
34
Azacitidine Approved, Investigational Phase 1 320-67-2 9444
35
Decitabine Approved, Investigational Phase 1 2353-33-5 451668
36 Heptavalent Pneumococcal Conjugate Vaccine Phase 1
37 Antimetabolites Phase 1
38 Antimetabolites, Antineoplastic Phase 1
39
Pimecrolimus Approved, Investigational 137071-32-0 6447131 17753757
40 Analgesics
41 Anti-Inflammatory Agents
42 Antirheumatic Agents
43 Calcineurin Inhibitors
44 Peripheral Nervous System Agents
45 Immunosuppressive Agents
46 Dermatologic Agents
47 Analgesics, Non-Narcotic
48 Anti-Inflammatory Agents, Non-Steroidal

Interventional clinical trials:

(show all 19)
# 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 Safety and Tolerability Study for the Pneumococcal Conjugate Vaccine V114 Versus Prevnar™ (V114-001 EXT1)(COMPLETED) Completed NCT01215175 Phase 1
11 Phase 1 Study of Vorinostat and Bortezomib in Multiple Myeloma (MK-0683-015 EXT 1 (AM1)) Completed NCT00111813 Phase 1 vorinostat;bortezomib
12 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
13 Gene Mutations and Orthopaedic Symptoms Correlation of Multiple Hereditary Exostoses: Multicentre Project Suspended NCT00474331
14 The Health-Related Quality of Life in Patients With Hereditary Multiple Exostoses Completed NCT00474448
15 Establishing the Genetic Profile of Multiple Hereditary Exostoses (HME) in Families of BC Terminated NCT00473850
16 Exercise in Type 1 Diabetes Mellitus Completed NCT02075567 Not Applicable
17 NGS Strategy Effectiveness in Molecular Diagnosis Completed NCT03557567
18 Follow-Up Study of Patients Previously Treated With Pimecrolimus Tablets for Atopic Dermatitis Completed NCT00098150
19 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:

41
Bone, Skin, 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 )
2013
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:

75 (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 rs886041198 GRCh37 Chromosome 8, 118831983: 118831983
27 EXT1 NM_000127.2(EXT1): c.1468dupC (p.Leu490Profs) duplication Pathogenic rs886041198 GRCh38 Chromosome 8, 117819744: 117819744
28 EXT1 NM_000127.2(EXT1): c.854dupA (p.His285Glnfs) duplication Pathogenic GRCh37 Chromosome 8, 119122432: 119122432
29 EXT1 NM_000127.2(EXT1): c.854dupA (p.His285Glnfs) duplication Pathogenic GRCh38 Chromosome 8, 118110193: 118110193
30 EXT1 NM_000127.2(EXT1): c.1418-2A> G single nucleotide variant Pathogenic GRCh37 Chromosome 8, 118832035: 118832035
31 EXT1 NM_000127.2(EXT1): c.1418-2A> G single nucleotide variant Pathogenic GRCh38 Chromosome 8, 117819796: 117819796
32 EXT1 NM_000127.2(EXT1): c.1056+2T> A single nucleotide variant Pathogenic GRCh38 Chromosome 8, 117837106: 117837106
33 EXT1 NM_000127.2(EXT1): c.1056+2T> A single nucleotide variant Pathogenic GRCh37 Chromosome 8, 118849345: 118849345
34 EXT1 NM_000127.2(EXT1): c.598_669del72 (p.Trp200_Thr223del) deletion Pathogenic GRCh38 Chromosome 8, 118110378: 118110449
35 EXT1 NM_000127.2(EXT1): c.598_669del72 (p.Trp200_Thr223del) deletion Pathogenic GRCh37 Chromosome 8, 119122617: 119122688
36 EXT1 NM_000127.2(EXT1): c.992C> A (p.Ala331Asp) single nucleotide variant Likely pathogenic GRCh38 Chromosome 8, 117837172: 117837172
37 EXT1 NM_000127.2(EXT1): c.992C> A (p.Ala331Asp) single nucleotide variant Likely pathogenic GRCh37 Chromosome 8, 118849411: 118849411
38 EXT1 NM_000127.2(EXT1): c.1633-34_1670del72 deletion Pathogenic GRCh38 Chromosome 8, 117812924: 117812995
39 EXT1 NM_000127.2(EXT1): c.1633-34_1670del72 deletion Pathogenic GRCh37 Chromosome 8, 118825163: 118825234
40 EXT1 NM_000127.2(EXT1): c.1431dup (p.Ser478Leufs) duplication Pathogenic GRCh38 Chromosome 8, 117819781: 117819781
41 EXT1 NM_000127.2(EXT1): c.1431dup (p.Ser478Leufs) duplication Pathogenic GRCh37 Chromosome 8, 118832020: 118832020
42 EXT1 NM_000127.2(EXT1): c.2101C> T (p.Arg701Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 8, 118812091: 118812091
43 EXT1 NM_000127.2(EXT1): c.2101C> T (p.Arg701Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 8, 117799852: 117799852
44 EXT1 NM_000127.2(EXT1): c.1810G> T (p.Glu604Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 8, 118819529: 118819529
45 EXT1 NM_000127.2(EXT1): c.1810G> T (p.Glu604Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 8, 117807290: 117807290
46 EXT1 NM_000127.2(EXT1): c.521delT (p.Leu174Terfs) deletion Pathogenic GRCh37 Chromosome 8, 119122765: 119122765
47 EXT1 NM_000127.2(EXT1): c.521delT (p.Leu174Terfs) deletion Pathogenic GRCh38 Chromosome 8, 118110526: 118110526
48 EXT1 NM_000127.2(EXT1): c.2104C> T (p.Gln702Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome 8, 117799849: 117799849
49 EXT1 NM_000127.2(EXT1): c.2104C> T (p.Gln702Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome 8, 118812088: 118812088
50 EXT1 NM_000127.2(EXT1): c.1319G> A (p.Arg440His) single nucleotide variant Uncertain significance rs144550328 GRCh38 Chromosome 8, 117822563: 117822563

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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