MCID: EXS019
MIFTS: 47

Exostoses, Multiple, Type I

Categories: Genetic diseases, Rare diseases, Bone diseases, Metabolic diseases, Fetal 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 hereditary multiple osteochondromas and osteochondroma, 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 Amlodipine and Angiotensin II have been mentioned in the context of this disorder. Affiliated tissues include bone, t cells and spinal cord, 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

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 all 44)
# 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 abnormal pyramidal signs 59 32 occasional (7.5%) Occasional (29-5%) HP:0007256
7 aseptic necrosis 59 32 frequent (33%) Frequent (79-30%) HP:0010885
8 synostosis of joints 59 32 occasional (7.5%) Occasional (29-5%) HP:0100240
9 abnormality of the dentition 59 32 frequent (33%) Frequent (79-30%) HP:0000164
10 anteverted nares 59 32 frequent (33%) Frequent (79-30%) HP:0000463
11 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
12 cranial nerve paralysis 59 32 frequent (33%) Frequent (79-30%) HP:0006824
13 hemiplegia/hemiparesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004374
14 abnormality of the metaphysis 59 32 frequent (33%) Frequent (79-30%) HP:0000944
15 micromelia 59 32 frequent (33%) Frequent (79-30%) HP:0002983
16 madelung deformity 59 32 frequent (33%) Frequent (79-30%) HP:0003067
17 abnormality of femur morphology 59 32 frequent (33%) Frequent (79-30%) HP:0002823
18 elbow dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0003042
19 recurrent fractures 59 32 occasional (7.5%) Occasional (29-5%) HP:0002757
20 bone pain 59 32 frequent (33%) Frequent (79-30%) HP:0002653
21 osteolysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002797
22 chondrosarcoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0006765
23 hypoplasia of the ulna 59 32 frequent (33%) Frequent (79-30%) HP:0003022
24 abnormality of tibia morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0002992
25 abnormal pericardium morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0001697
26 radial bowing 59 32 frequent (33%) Frequent (79-30%) HP:0002986
27 abnormality of the humerus 59 32 hallmark (90%) Very frequent (99-80%) HP:0003063
28 multiple exostoses 59 32 hallmark (90%) Very frequent (99-80%) HP:0002762
29 pelvic bone exostoses 59 32 occasional (7.5%) Occasional (29-5%) HP:0003276
30 exostoses 59 Frequent (79-30%)
31 neoplasm 59 Occasional (29-5%)
32 abnormality of the foot 32 HP:0001760
33 abnormality of pelvic girdle bone morphology 59 Occasional (29-5%)
34 abnormality of the upper limb 59 Frequent (79-30%)
35 coxa vara 32 HP:0002812
36 short metacarpal 32 HP:0010049
37 aneurysm 59 Occasional (29-5%)
38 rib exostoses 32 HP:0000896
39 peripheral nerve compression 32 HP:0003406
40 scapular exostoses 32 HP:0000918
41 protuberances at ends of long bones 32 HP:0003105
42 madelung-like forearm deformities 32 HP:0003068
43 cervical myelopathy 32 HP:0002318
44 dilatation 32 occasional (7.5%) HP:0002617

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 46)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Amlodipine Approved Phase 3 88150-42-9 2162
2
Angiotensin II Approved, Investigational Phase 3 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
3
Enalapril Approved, Vet_approved Phase 3 75847-73-3 5362032 40466924
4
Enalaprilat Approved Phase 3 76420-72-9 6917719
5
Losartan Approved Phase 3 114798-26-4 3961
6
Vorinostat Approved, Investigational Phase 3,Phase 1 149647-78-9 5311
7
Maleic acid Experimental Phase 3 110-16-7 444266
8 Angiotensin II Type 1 Receptor Blockers Phase 3
9 Angiotensin Receptor Antagonists Phase 3
10 Angiotensin-Converting Enzyme Inhibitors Phase 3
11 Angiotensinogen Phase 3
12 Anti-Arrhythmia Agents Phase 3
13 Antihypertensive Agents Phase 3
14 calcium channel blockers Phase 3
15 Calcium, Dietary Phase 3
16 HIV Protease Inhibitors Phase 3
17
protease inhibitors Phase 3
18 Vasodilator Agents Phase 3
19 Histone Deacetylase Inhibitors Phase 3,Phase 1
20 Vaccines Phase 3,Phase 1
21
Insulin Glargine Approved Phase 2 160337-95-1
22
Metformin Approved Phase 2 657-24-9 14219 4091
23
Zinc Approved, Investigational Phase 2 7440-66-6 23994
24 insulin Phase 2,Not Applicable
25 Insulin, Globin Zinc Phase 2,Not Applicable
26 Hypoglycemic Agents Phase 2
27 Cholinergic Antagonists Phase 2
28 MK 0873 Phase 2
29 Phosphodiesterase 4 Inhibitors Phase 2
30 Phosphodiesterase Inhibitors Phase 2
31
Bortezomib Approved, Investigational Phase 1 179324-69-7 387447 93860
32
Azacitidine Approved, Investigational Phase 1 320-67-2 9444
33
Decitabine Approved, Investigational Phase 1 2353-33-5 451668
34 Heptavalent Pneumococcal Conjugate Vaccine Phase 1
35 Antimetabolites Phase 1
36 Antimetabolites, Antineoplastic Phase 1
37
Pimecrolimus Approved, Investigational 137071-32-0 6447131 17753757
38 Analgesics
39 Analgesics, Non-Narcotic
40 Anti-Inflammatory Agents
41 Anti-Inflammatory Agents, Non-Steroidal
42 Antirheumatic Agents
43 Calcineurin Inhibitors
44 Dermatologic Agents
45 Immunosuppressive Agents
46 Peripheral Nervous System Agents

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 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 The Health-Related Quality of Life in Patients With Hereditary Multiple Exostoses Completed NCT00474448
14 Exercise in Type 1 Diabetes Mellitus Completed NCT02075567 Not Applicable
15 NGS Strategy Effectiveness in Molecular Diagnosis Completed NCT03557567
16 Follow-Up Study of Patients Previously Treated With Pimecrolimus Tablets for Atopic Dermatitis Completed NCT00098150
17 Gene Mutations and Orthopaedic Symptoms Correlation of Multiple Hereditary Exostoses: Multicentre Project Suspended NCT00474331
18 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

Anatomical Context for Exostoses, Multiple, Type I

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

41
Bone, T Cells, Spinal Cord

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
7
[Spinal cord compression in multiple cartilagineous exostoses (case report)]. ( 1079673 )
1975

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 71)
# 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.1019G> A (p.Arg340His) single nucleotide variant Pathogenic rs119103287 GRCh37 Chromosome 8, 118849384: 118849384
21 EXT1 NM_000127.2(EXT1): c.1019G> A (p.Arg340His) single nucleotide variant Pathogenic rs119103287 GRCh38 Chromosome 8, 117837145: 117837145
22 EXT1 NM_000127.2(EXT1): c.538_539delAG (p.Leu181Profs) deletion Pathogenic rs886039486 GRCh37 Chromosome 8, 119122747: 119122748
23 EXT1 NM_000127.2(EXT1): c.538_539delAG (p.Leu181Profs) deletion Pathogenic rs886039486 GRCh38 Chromosome 8, 118110508: 118110509
24 EXT1 NM_000127.2(EXT1): c.1418-2A> G single nucleotide variant Pathogenic GRCh37 Chromosome 8, 118832035: 118832035
25 EXT1 NM_000127.2(EXT1): c.1418-2A> G single nucleotide variant Pathogenic GRCh38 Chromosome 8, 117819796: 117819796
26 EXT1 NM_000127.2(EXT1): c.1056+2T> A single nucleotide variant Pathogenic GRCh37 Chromosome 8, 118849345: 118849345
27 EXT1 NM_000127.2(EXT1): c.1056+2T> A single nucleotide variant Pathogenic GRCh38 Chromosome 8, 117837106: 117837106
28 EXT1 NM_000127.2(EXT1): c.598_669del72 (p.Trp200_Thr223del) deletion Pathogenic GRCh37 Chromosome 8, 119122617: 119122688
29 EXT1 NM_000127.2(EXT1): c.598_669del72 (p.Trp200_Thr223del) deletion Pathogenic GRCh38 Chromosome 8, 118110378: 118110449
30 EXT1 NM_000127.2(EXT1): c.992C> A (p.Ala331Asp) single nucleotide variant Likely pathogenic GRCh38 Chromosome 8, 117837172: 117837172
31 EXT1 NM_000127.2(EXT1): c.992C> A (p.Ala331Asp) single nucleotide variant Likely pathogenic GRCh37 Chromosome 8, 118849411: 118849411
32 EXT1 NM_000127.2(EXT1): c.1633-34_1670del72 deletion Pathogenic GRCh38 Chromosome 8, 117812924: 117812995
33 EXT1 NM_000127.2(EXT1): c.1633-34_1670del72 deletion Pathogenic GRCh37 Chromosome 8, 118825163: 118825234
34 EXT1 NM_000127.2(EXT1): c.1431dup (p.Ser478Leufs) duplication Pathogenic GRCh38 Chromosome 8, 117819781: 117819781
35 EXT1 NM_000127.2(EXT1): c.1431dup (p.Ser478Leufs) duplication Pathogenic GRCh37 Chromosome 8, 118832020: 118832020
36 EXT1 NM_000127.2(EXT1): c.1401delC (p.Tyr468Thrfs) deletion Pathogenic GRCh38 Chromosome 8, 117822481: 117822481
37 EXT1 NM_000127.2(EXT1): c.1401delC (p.Tyr468Thrfs) deletion Pathogenic GRCh37 Chromosome 8, 118834720: 118834720
38 EXT1 NM_000127.2(EXT1): c.1056+3A> C single nucleotide variant Pathogenic GRCh38 Chromosome 8, 117837105: 117837105
39 EXT1 NM_000127.2(EXT1): c.1056+3A> C single nucleotide variant Pathogenic GRCh37 Chromosome 8, 118849344: 118849344
40 EXT1 NM_000127.2(EXT1): c.2101C> T (p.Arg701Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 8, 118812091: 118812091
41 EXT1 NM_000127.2(EXT1): c.2101C> T (p.Arg701Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 8, 117799852: 117799852
42 EXT1 NM_000127.2(EXT1): c.521delT (p.Leu174Terfs) deletion Pathogenic GRCh37 Chromosome 8, 119122765: 119122765
43 EXT1 NM_000127.2(EXT1): c.521delT (p.Leu174Terfs) deletion Pathogenic GRCh38 Chromosome 8, 118110526: 118110526
44 EXT1 NM_000127.2(EXT1): c.1036A> G (p.Arg346Gly) single nucleotide variant Pathogenic GRCh38 Chromosome 8, 117837128: 117837128
45 EXT1 NM_000127.2(EXT1): c.1036A> G (p.Arg346Gly) single nucleotide variant Pathogenic GRCh37 Chromosome 8, 118849367: 118849367
46 EXT1 NM_000127.2(EXT1): c.218delA (p.Asn73Thrfs) deletion Pathogenic GRCh38 Chromosome 8, 118110829: 118110829
47 EXT1 NM_000127.2(EXT1): c.218delA (p.Asn73Thrfs) deletion Pathogenic GRCh37 Chromosome 8, 119123068: 119123068
48 EXT1 NM_000127.2(EXT1): c.2059delT (p.Ser687Leufs) deletion Pathogenic GRCh38 Chromosome 8, 117799894: 117799894
49 EXT1 NM_000127.2(EXT1): c.2059delT (p.Ser687Leufs) deletion Pathogenic GRCh37 Chromosome 8, 118812133: 118812133
50 EXT1 NM_000127.2(EXT1): c.1417+2T> A single nucleotide variant Pathogenic GRCh37 Chromosome 8, 118834702: 118834702

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 acetylglucosaminyltransferase activity GO:0008375 9.32 EXT1 EXT2
4 glucuronosyltransferase activity GO:0015020 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
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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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