MCID: EXS005
MIFTS: 26

Exostoses, Multiple, Type 2

Categories: Genetic diseases, Rare diseases, Bone diseases

Aliases & Classifications for Exostoses, Multiple, Type 2

MalaCards integrated aliases for Exostoses, Multiple, Type 2:

Name: Exostoses, Multiple, Type 2 54 50 13
Hereditary Multiple Exostoses 2 71
Multiple Exostoses Type 2 29
Ext2 71

Characteristics:

OMIM:

54
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 2:
Inheritance autosomal dominant inheritance
Onset and clinical course juvenile onset


Classifications:



Summaries for Exostoses, Multiple, Type 2

UniProtKB/Swiss-Prot : 71 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 short stature, genu valgum and coxa vara. An important gene associated with Exostoses, Multiple, Type 2 is EXT2 (Exostosin Glycosyltransferase 2). The drugs Vaccines and Insulin Glargine 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 arising from the juxtaepiphyseal region of the long bones. (133701)

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 via clinical synopsis from OMIM:

54

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

Neurologic- Peripheral Nervous System:
cervical myelopathy
peripheral nerve compression

Chest- Ribs Sternum Clavicles And Scapulae:
rib exostoses
scapular exostoses

Skeletal- Pelvis:
coxa vara
pelvic exostoses

Growth- Height:
short stature in less than 50%

Neoplasia:
increased risk of chondrosarcoma


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 short stature 32 frequent (33%) HP:0004322
2 genu valgum 32 HP:0002857
3 coxa vara 32 HP:0002812
4 cervical myelopathy 32 HP:0002318
5 rib exostoses 32 HP:0000896
6 scapular exostoses 32 HP:0000918
7 protuberances at ends of long bones 32 HP:0003105
8 short metacarpal 32 HP:0010049
9 madelung-like forearm deformities 32 HP:0003068
10 peripheral nerve compression 32 HP:0003406
11 chondrosarcoma 32 HP:0006765
12 pelvic bone exostoses 32 HP:0003276

Drugs & Therapeutics for Exostoses, Multiple, Type 2

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

(show all 7)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Vaccines Phase 3
2
Insulin Glargine Approved Phase 2 160337-95-1
3
Metformin Approved Phase 2 657-24-9 14219 4091
4
Zinc Approved Phase 2 7440-66-6 32051 23994
5 insulin Phase 2
6 Insulin, Globin Zinc Phase 2
7 Hypoglycemic Agents Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
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 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
3 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:

71
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.765C> G (p.Tyr255Ter) single nucleotide variant Pathogenic rs121918281 GRCh38 Chromosome 11, 44114224: 44114224
2 EXT2 NM_000401.3(EXT2): c.871C> T (p.Gln291Ter) single nucleotide variant Pathogenic rs267606786 GRCh37 Chromosome 11, 44146367: 44146367
3 EXT2 NM_000401.3(EXT2): c.553_556delCTGT (p.Val187Profs) deletion Pathogenic rs864309636 GRCh38 Chromosome 11, 44108166: 44108169
4 EXT2 NM_207122.1(EXT2): c.514C> T (p.Gln172Ter) single nucleotide variant Pathogenic rs121918279 GRCh37 Chromosome 11, 44129776: 44129776
5 EXT2 NM_000401.3(EXT2): c.1404+1G> A single nucleotide variant Pathogenic rs864309637 GRCh38 Chromosome 11, 44171743: 44171743
6 EXT2 NM_000401.3(EXT2): c.778G> A (p.Asp260Asn) single nucleotide variant Pathogenic rs121918280 GRCh37 Chromosome 11, 44135787: 44135787
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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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