EXT2
MCID: EXS020
MIFTS: 25

Exostoses, Multiple, Type Ii (EXT2)

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

Aliases & Classifications for Exostoses, Multiple, Type Ii

MalaCards integrated aliases for Exostoses, Multiple, Type Ii:

Name: Exostoses, Multiple, Type Ii 57
Exostoses, Multiple, Type 2 57 76 53 13 40
Multiple Exostoses Type 2 29 6
Ext2 57 75
Hereditary Multiple Exostoses 2 75

Characteristics:

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 ii:
Onset and clinical course juvenile onset
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 133701
MedGen 42 C1851413

Summaries for Exostoses, Multiple, Type Ii

UniProtKB/Swiss-Prot : 75 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 Ii, also known as exostoses, multiple, type 2, is related to hereditary multiple exostoses and potocki-shaffer syndrome. An important gene associated with Exostoses, Multiple, Type Ii is EXT2 (Exostosin Glycosyltransferase 2). The drugs HIV Integrase Inhibitors and Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, and related phenotypes are genu valgum and short stature

OMIM : 57 Hereditary multiple exostoses is an autosomal dominant disorder characterized by multiple exostoses most commonly arising from the juxtaepiphyseal region of the long bones. (133701)

Wikipedia : 76 Hereditary multiple osteochondromas (HMO) also known as Hereditary multiple exostoses is a disorder... more...

Related Diseases for Exostoses, Multiple, Type Ii

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 Ii via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 24)
# Related Disease Score Top Affiliating Genes
1 hereditary multiple exostoses 12.0
2 potocki-shaffer syndrome 11.9
3 hereditary multiple osteochondromas 11.9
4 osteochondroma 11.9
5 exostosis 11.6
6 chondrosarcoma 11.6
7 exostoses, multiple, type i 11.6
8 seizures, scoliosis, and macrocephaly syndrome 11.4
9 scoliosis 11.2
10 bone disease 11.2
11 dysplasia epiphysealis hemimelica 11.1
12 motion sickness 11.1
13 enchondromatosis, multiple, ollier type 11.1
14 multiple enchondromatosis, maffucci type 11.1
15 parietal foramina 11.1
16 nodular malignant melanoma 11.1
17 vulvar melanoma 11.1
18 clear cell chondrosarcoma 11.1
19 hypertelorism 10.9
20 bone remodeling disease 10.9
21 diabetes mellitus, noninsulin-dependent 10.0
22 diabetes mellitus 10.0
23 microcephaly 10.0
24 seizure disorder 10.0

Graphical network of the top 20 diseases related to Exostoses, Multiple, Type Ii:



Diseases related to Exostoses, Multiple, Type Ii

Symptoms & Phenotypes for Exostoses, Multiple, Type Ii

Symptoms via clinical synopsis from OMIM:

57
Skeletal Limbs:
genu valgum
short metacarpal
protuberances at ends of long bones
madelung-like forearm deformities
exostoses in juxtaepiphyseal regions of the long bones

Chest Ribs Sternum Clavicles And Scapulae:
rib exostoses
scapular exostoses

Growth Height:
short stature in less than 50%

Skeletal Pelvis:
coxa vara
pelvic exostoses

Neurologic Peripheral Nervous System:
peripheral nerve compression
cervical myelopathy

Neoplasia:
increased risk of chondrosarcoma


Clinical features from OMIM:

133701

Human phenotypes related to Exostoses, Multiple, Type Ii:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 genu valgum 32 HP:0002857
2 short stature 32 frequent (33%) 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 peripheral nerve compression 32 HP:0003406
8 pelvic bone exostoses 32 HP:0003276
9 scapular exostoses 32 HP:0000918
10 protuberances at ends of long bones 32 HP:0003105
11 madelung-like forearm deformities 32 HP:0003068
12 cervical myelopathy 32 HP:0002318

Drugs & Therapeutics for Exostoses, Multiple, Type Ii

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

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 HIV Integrase Inhibitors Phase 3
2 Anti-Infective Agents Phase 3
3 Integrase Inhibitors Phase 3
4 Raltegravir Potassium Phase 3
5 Anti-Retroviral Agents Phase 3
6 Anti-HIV Agents Phase 3
7 Antiviral Agents Phase 3
8 Vaccines Phase 3
9 Immunologic Factors Phase 3
10 Phosphodiesterase Inhibitors Phase 2
11 MK 0873 Phase 2
12 Cholinergic Antagonists Phase 2
13 Phosphodiesterase 4 Inhibitors Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Study to Evaluate the Safety and Efficacy of Raltegravir (MK0518) in HIV-Infected Patients Failing Current Antiretroviral Therapies (MK0518-018 EXT2) Completed NCT00293267 Phase 3 raltegravir potassium;Comparator: Placebo
2 An Investigational Study of Gardasilâ„¢ (qHPV Vaccine) in Reducing the Incidence of Anogenital Warts in Young Men (V501-020) Completed NCT00090285 Phase 3
3 An Extension of a Long-term Safety Study of ALKS 9072 (Also Known as ALKS 9070) Completed NCT01895452 Phase 3 ALKS 9072, Low Dose;ALKS 9072, High Dose
4 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

Search NIH Clinical Center for Exostoses, Multiple, Type Ii

Genetic Tests for Exostoses, Multiple, Type Ii

Genetic tests related to Exostoses, Multiple, Type Ii:

# Genetic test Affiliating Genes
1 Multiple Exostoses Type 2 29 EXT2

Anatomical Context for Exostoses, Multiple, Type Ii

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

41
Bone

Publications for Exostoses, Multiple, Type Ii

Variations for Exostoses, Multiple, Type Ii

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

75
# 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 Ii:

6 (show top 50) (show all 77)
# 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_000401.3(EXT2): c.553_556delCTGT (p.Val187Profs) deletion Pathogenic rs864309636 GRCh37 Chromosome 11, 44129716: 44129719
3 EXT2 NM_207122.1(EXT2): c.514C> T (p.Gln172Ter) single nucleotide variant Pathogenic rs121918279 GRCh37 Chromosome 11, 44129776: 44129776
4 EXT2 NM_207122.1(EXT2): c.514C> T (p.Gln172Ter) single nucleotide variant Pathogenic rs121918279 GRCh38 Chromosome 11, 44108226: 44108226
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.1404+1G> A single nucleotide variant Pathogenic rs864309637 GRCh37 Chromosome 11, 44193293: 44193293
7 EXT2 NM_207122.1(EXT2): c.679G> A (p.Asp227Asn) single nucleotide variant Pathogenic rs121918280 GRCh37 Chromosome 11, 44135787: 44135787
8 EXT2 NM_207122.1(EXT2): c.679G> A (p.Asp227Asn) single nucleotide variant Pathogenic rs121918280 GRCh38 Chromosome 11, 44114237: 44114237
9 EXT2 NM_000401.3(EXT2): c.765C> G (p.Tyr255Ter) single nucleotide variant Pathogenic rs121918281 GRCh37 Chromosome 11, 44135774: 44135774
10 EXT2 NM_000401.3(EXT2): c.765C> G (p.Tyr255Ter) single nucleotide variant Pathogenic rs121918281 GRCh38 Chromosome 11, 44114224: 44114224
11 EXT2 NM_000401.3(EXT2): c.871C> T (p.Gln291Ter) single nucleotide variant Pathogenic rs267606786 GRCh37 Chromosome 11, 44146367: 44146367
12 EXT2 NM_000401.3(EXT2): c.871C> T (p.Gln291Ter) single nucleotide variant Pathogenic rs267606786 GRCh38 Chromosome 11, 44124817: 44124817
13 EXT2 NM_000401.3(EXT2): c.843-2A> C single nucleotide variant Pathogenic rs864309638 GRCh38 Chromosome 11, 44124787: 44124787
14 EXT2 NM_000401.3(EXT2): c.843-2A> C single nucleotide variant Pathogenic rs864309638 GRCh37 Chromosome 11, 44146337: 44146337
15 EXT2 NM_207122.1(EXT2): c.28C> A (p.Arg10=) single nucleotide variant Benign rs4755228 GRCh37 Chromosome 11, 44129290: 44129290
16 EXT2 NM_207122.1(EXT2): c.28C> A (p.Arg10=) single nucleotide variant Benign rs4755228 GRCh38 Chromosome 11, 44107740: 44107740
17 EXT2 NM_207122.1(EXT2): c.544C> T (p.Arg182Ter) single nucleotide variant Pathogenic rs886039358 GRCh37 Chromosome 11, 44130751: 44130751
18 EXT2 NM_207122.1(EXT2): c.544C> T (p.Arg182Ter) single nucleotide variant Pathogenic rs886039358 GRCh38 Chromosome 11, 44109201: 44109201
19 EXT2 NM_207122.1(EXT2): c.937C> T (p.Gln313Ter) single nucleotide variant Pathogenic rs763718818 GRCh37 Chromosome 11, 44146532: 44146532
20 EXT2 NM_207122.1(EXT2): c.937C> T (p.Gln313Ter) single nucleotide variant Pathogenic rs763718818 GRCh38 Chromosome 11, 44124982: 44124982
21 EXT2 NM_207122.1(EXT2): c.398_401dupTGCT (p.Met135Alafs) duplication Pathogenic rs886041272 GRCh37 Chromosome 11, 44129660: 44129663
22 EXT2 NM_207122.1(EXT2): c.398_401dupTGCT (p.Met135Alafs) duplication Pathogenic rs886041272 GRCh38 Chromosome 11, 44108110: 44108113
23 EXT2 NM_207122.1(EXT2): c.906_907dupGC (p.His303Argfs) duplication Pathogenic rs886041199 GRCh37 Chromosome 11, 44146501: 44146502
24 EXT2 NM_207122.1(EXT2): c.906_907dupGC (p.His303Argfs) duplication Pathogenic rs886041199 GRCh38 Chromosome 11, 44124951: 44124952
25 EXT2 NM_207122.1(EXT2): c.1645C> T (p.Leu549=) single nucleotide variant Conflicting interpretations of pathogenicity rs142565472 GRCh37 Chromosome 11, 44228492: 44228492
26 EXT2 NM_207122.1(EXT2): c.1645C> T (p.Leu549=) single nucleotide variant Conflicting interpretations of pathogenicity rs142565472 GRCh38 Chromosome 11, 44206942: 44206942
27 EXT2 NM_207122.1(EXT2): c.1017T> C (p.Cys339=) single nucleotide variant Benign/Likely benign rs11828047 GRCh37 Chromosome 11, 44148443: 44148443
28 EXT2 NM_207122.1(EXT2): c.1017T> C (p.Cys339=) single nucleotide variant Benign/Likely benign rs11828047 GRCh38 Chromosome 11, 44126893: 44126893
29 EXT2 NC_000011.10: g.(?_44206773)_(44206979_?)del deletion Pathogenic GRCh37 Chromosome 11, 44228323: 44228529
30 EXT2 NC_000011.10: g.(?_44206773)_(44206979_?)del deletion Pathogenic GRCh38 Chromosome 11, 44206773: 44206979
31 EXT2 NC_000011.10: g.(?_44171591)_(44171762_?)del deletion Pathogenic GRCh38 Chromosome 11, 44171591: 44171762
32 EXT2 NM_207122.1(EXT2): c.244delG (p.Asp82Ilefs) deletion Pathogenic GRCh37 Chromosome 11, 44129506: 44129506
33 EXT2 NM_207122.1(EXT2): c.244delG (p.Asp82Ilefs) deletion Pathogenic GRCh38 Chromosome 11, 44107956: 44107956
34 EXT2 NM_207122.1(EXT2): c.1564C> T (p.Arg522Cys) single nucleotide variant Uncertain significance rs145507609 GRCh38 Chromosome 11, 44206861: 44206861
35 EXT2 NM_207122.1(EXT2): c.1564C> T (p.Arg522Cys) single nucleotide variant Uncertain significance rs145507609 GRCh37 Chromosome 11, 44228411: 44228411
36 EXT2 NM_207122.1(EXT2): c.1806+9delG deletion Benign rs372901342 GRCh38 Chromosome 11, 44232505: 44232505
37 EXT2 NM_207122.1(EXT2): c.1806+9delG deletion Benign rs372901342 GRCh37 Chromosome 11, 44254055: 44254055
38 EXT2 NC_000011.10: g.(?_44144227)_(44198038_?)del deletion Pathogenic GRCh37 Chromosome 11, 44165777: 44219588
39 EXT2 NC_000011.10: g.(?_44144227)_(44198038_?)del deletion Pathogenic GRCh38 Chromosome 11, 44144227: 44198038
40 EXT2 NM_207122.1(EXT2): c.553_558delAATCAC (p.Asn185_His186del) deletion Uncertain significance GRCh37 Chromosome 11, 44130760: 44130765
41 EXT2 NM_207122.1(EXT2): c.553_558delAATCAC (p.Asn185_His186del) deletion Uncertain significance GRCh38 Chromosome 11, 44109210: 44109215
42 EXT2 NM_207122.1(EXT2): c.928C> T (p.Gln310Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 11, 44146523: 44146523
43 EXT2 NM_207122.1(EXT2): c.928C> T (p.Gln310Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 11, 44124973: 44124973
44 EXT2 NC_000011.10: g.(?_44107663)_(44130158_?)del deletion Pathogenic GRCh37 Chromosome 11, 44129213: 44151708
45 EXT2 NC_000011.10: g.(?_44107663)_(44130158_?)del deletion Pathogenic GRCh38 Chromosome 11, 44107663: 44130158
46 EXT2 NM_207122.1(EXT2): c.1393C> T (p.Arg465Ter) single nucleotide variant Pathogenic rs772690312 GRCh38 Chromosome 11, 44197916: 44197916
47 EXT2 NM_207122.1(EXT2): c.362_363delCT (p.Ser121Cysfs) deletion Pathogenic GRCh37 Chromosome 11, 44129624: 44129625
48 EXT2 NM_207122.1(EXT2): c.362_363delCT (p.Ser121Cysfs) deletion Pathogenic GRCh38 Chromosome 11, 44108074: 44108075
49 EXT2 NM_207122.1(EXT2): c.1173+2T> A single nucleotide variant Pathogenic GRCh37 Chromosome 11, 44151690: 44151690
50 EXT2 NM_207122.1(EXT2): c.1173+2T> A single nucleotide variant Pathogenic GRCh38 Chromosome 11, 44130140: 44130140

Expression for Exostoses, Multiple, Type Ii

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Pathways for Exostoses, Multiple, Type Ii

GO Terms for Exostoses, Multiple, Type Ii

Sources for Exostoses, Multiple, Type Ii

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