EXT2
MCID: EXS005
MIFTS: 26

Exostoses, Multiple, Type 2 (EXT2) malady

Categories: Genetic diseases, Rare diseases, Bone diseases

Aliases & Classifications for Exostoses, Multiple, Type 2

Aliases & Descriptions for Exostoses, Multiple, Type 2:

Name: Exostoses, Multiple, Type 2 54 50 29 13
Hereditary Multiple Exostoses 2 66
Ext2 66

Characteristics:

HPO:

32
exostoses, multiple, type 2:
Inheritance autosomal dominant inheritance
Onset and clinical course juvenile onset


Classifications:



External Ids:

OMIM 54 133701
MedGen 40 C1851413

Summaries for Exostoses, Multiple, Type 2

UniProtKB/Swiss-Prot : 66 Hereditary multiple exostoses 2: 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.

MalaCards based summary : Exostoses, Multiple, Type 2, also known as hereditary multiple exostoses 2, is related to hereditary multiple exostoses, and has symptoms including genu valgum, short stature and chondrosarcoma. An important gene associated with Exostoses, Multiple, Type 2 is EXT2 (Exostosin Glycosyltransferase 2). The drugs Enalapril and Enalaprilat have been mentioned in the context of this disorder. Affiliated tissues include bone.

OMIM : 54 Hereditary multiple exostoses is an autosomal dominant disorder characterized by multiple exostoses most commonly... (133701) more...

Related Diseases for Exostoses, Multiple, Type 2

Diseases in the Hereditary Multiple Exostoses family:

Exostoses, Multiple, Type 1 Exostoses, Multiple, Type 2
Exostoses, Multiple, Type 3

Diseases related to Exostoses, Multiple, Type 2 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 hereditary multiple exostoses 11.1

Symptoms & Phenotypes for Exostoses, Multiple, Type 2

Symptoms by clinical synopsis from OMIM:

133701

Clinical features from OMIM:

133701

Human phenotypes related to Exostoses, Multiple, Type 2:

32 (show all 12)
id Description HPO Frequency HPO Source Accession
1 genu valgum 32 HP:0002857
2 short stature 32 HP:0004322
3 chondrosarcoma 32 HP:0006765
4 coxa vara 32 HP:0002812
5 short metacarpal 32 HP:0010049
6 rib exostoses 32 HP:0000896
7 scapular exostoses 32 HP:0000918
8 cervical myelopathy 32 HP:0002318
9 madelung-like forearm deformities 32 HP:0003068
10 protuberances at ends of long bones 32 HP:0003105
11 pelvic bone exostoses 32 HP:0003276
12 peripheral nerve compression 32 HP:0003406

Drugs & Therapeutics for Exostoses, Multiple, Type 2

Drugs for Exostoses, Multiple, Type 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 31)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Enalapril Approved, Vet_approved Phase 3 75847-73-3 5362032 40466924
2
Enalaprilat Approved Phase 3 76420-72-9 6917719
3
Losartan Approved Phase 3 114798-26-4 3961
4
Amlodipine Approved Phase 3 88150-42-9 2162
5
Maleic acid Experimental Phase 3 110-16-7 444266
6
Angiotensin II Phase 3 68521-88-0, 11128-99-7 65143 172198
7 calcium channel blockers Phase 3
8
protease inhibitors Phase 3
9 HIV Protease Inhibitors Phase 3
10 Vaccines Phase 3
11 Vasodilator Agents Phase 3
12 Angiotensin II Type 1 Receptor Blockers Phase 3
13 Angiotensin Receptor Antagonists Phase 3
14 Angiotensin-Converting Enzyme Inhibitors Phase 3
15 Angiotensinogen Phase 3
16 Anti-Arrhythmia Agents Phase 3
17 Antihypertensive Agents Phase 3
18 Calcium, Dietary Phase 3
19
Zinc Approved Phase 2 7440-66-6 32051 23994
20
Metformin Approved Phase 2 657-24-9 14219 4091
21
Insulin Glargine Approved Phase 2 160337-95-1
22 insulin Phase 2
23 Insulin, Globin Zinc Phase 2
24 Hypoglycemic Agents Phase 2
25
Bortezomib Approved, Investigational Phase 1 179324-69-7 387447 93860
26
Vorinostat Approved, Investigational Phase 1 149647-78-9 5311
27
Azacitidine Approved, Investigational Phase 1 320-67-2 9444
28
Decitabine Approved, Investigational Phase 1 2353-33-5 451668
29 Histone Deacetylase Inhibitors Phase 1
30 Antimetabolites Phase 1
31 Antimetabolites, Antineoplastic Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase
1 A Study to Evaluate the Safety, Immune Response, and Efficacy of Gardasil (V501, qHPV) in Mid-Adult Women (V501-019) Completed NCT00090220 Phase 3
2 An Extension Study Designed to Assess Effects of Losartan on Proteinuria in Pediatric Populations (MK-0954-326 AM1,EXT1(AM2)) Completed NCT00568178 Phase 3
3 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
4 An Extension Study Evaluating Safety and Efficacy of Proellex® In Women Who Have Previously Completed ZPU 003 Ext Terminated NCT00958893 Phase 2
5 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
6 Phase 1 Study of Vorinostat and Bortezomib in Multiple Myeloma (MK-0683-015 EXT 1 (AM1)) Completed NCT00111813 Phase 1
7 Vorinostat (MK-0683) Phase I Study in Cutaneous T-Cell Lymphoma (CTCL) Patients (MK-0683-089 EXT1) Completed NCT00771472 Phase 1
8 Exercise in Type 1 Diabetes Mellitus Completed NCT02075567

Search NIH Clinical Center for Exostoses, Multiple, Type 2

Genetic Tests for Exostoses, Multiple, Type 2

Genetic tests related to Exostoses, Multiple, Type 2:

id Genetic test Affiliating Genes
1 Multiple Exostoses Type 2 29

Anatomical Context for Exostoses, Multiple, Type 2

MalaCards organs/tissues related to Exostoses, Multiple, Type 2:

39
Bone

Publications for Exostoses, Multiple, Type 2

Variations for Exostoses, Multiple, Type 2

UniProtKB/Swiss-Prot genetic disease variations for Exostoses, Multiple, Type 2:

66
id Symbol AA change Variation ID SNP ID
1 EXT2 p.Asp227Asn VAR_002378 rs121918280
2 EXT2 p.Cys85Arg VAR_012823
3 EXT2 p.Leu152Arg VAR_012824
4 EXT2 p.Arg179Ser VAR_012825
5 EXT2 p.Ala202Val VAR_012826 rs771803942
6 EXT2 p.Arg223Pro VAR_012827 rs764379119
7 EXT2 p.Ile380Thr VAR_012828

ClinVar genetic disease variations for Exostoses, Multiple, Type 2:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 EXT2 NM_000401.3(EXT2): c.553_556delCTGT (p.Val187Profs) deletion Pathogenic rs864309636 GRCh38 Chromosome 11, 44108166: 44108169
2 EXT2 NM_207122.1(EXT2): c.514C> T (p.Gln172Ter) single nucleotide variant Pathogenic rs121918279 GRCh37 Chromosome 11, 44129776: 44129776
3 EXT2 NM_000401.3(EXT2): c.1404+1G> A single nucleotide variant Pathogenic rs864309637 GRCh38 Chromosome 11, 44171743: 44171743
4 EXT2 NM_000401.3(EXT2): c.778G> A (p.Asp260Asn) single nucleotide variant Pathogenic rs121918280 GRCh37 Chromosome 11, 44135787: 44135787
5 EXT2 NM_000401.3(EXT2): c.765C> G (p.Tyr255Ter) single nucleotide variant Pathogenic rs121918281 GRCh37 Chromosome 11, 44135774: 44135774
6 EXT2 NM_000401.3(EXT2): c.871C> T (p.Gln291Ter) single nucleotide variant Pathogenic rs267606786 GRCh37 Chromosome 11, 44146367: 44146367
7 EXT2 NM_000401.3(EXT2): c.843-2A> C single nucleotide variant Pathogenic rs864309638 GRCh38 Chromosome 11, 44124787: 44124787

Expression for Exostoses, Multiple, Type 2

Search GEO for disease gene expression data for Exostoses, Multiple, Type 2.

Pathways for Exostoses, Multiple, Type 2

GO Terms for Exostoses, Multiple, Type 2

Sources for Exostoses, Multiple, Type 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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