EXT3
MCID: EXS021
MIFTS: 19

Exostoses, Multiple, Type Iii (EXT3)

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

Aliases & Classifications for Exostoses, Multiple, Type Iii

MalaCards integrated aliases for Exostoses, Multiple, Type Iii:

Name: Exostoses, Multiple, Type Iii 57 70
Exostoses, Multiple, Type 3 57 73 20 13
Ext3 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant (19p)


HPO:

31
exostoses, multiple, type iii:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 600209
MedGen 41 C1838420
SNOMED-CT via HPO 68 254044004 263681008
UMLS 70 C1838420

Summaries for Exostoses, Multiple, Type Iii

MalaCards based summary : Exostoses, Multiple, Type Iii, also known as exostoses, multiple, type 3, is related to hereditary multiple exostoses and exostoses, multiple, type i. An important gene associated with Exostoses, Multiple, Type Iii is EXT3 (Exostoses (Multiple) 3). Related phenotype is multiple exostoses.

Wikipedia : 73 Hereditary multiple osteochondromas (HMO), also known as hereditary multiple exostoses, is a disorder... more...

More information from OMIM: 600209

Related Diseases for Exostoses, Multiple, Type Iii

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

# Related Disease Score Top Affiliating Genes
1 hereditary multiple exostoses 11.3
2 exostoses, multiple, type i 10.9
3 exostoses, multiple, type ii 10.9
4 rapidly involuting congenital hemangioma 10.0

Symptoms & Phenotypes for Exostoses, Multiple, Type Iii

Human phenotypes related to Exostoses, Multiple, Type Iii:

31
# Description HPO Frequency HPO Source Accession
1 multiple exostoses 31 HP:0002762

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skel:
multiple exostoses

Clinical features from OMIM®:

600209 (Updated 20-May-2021)

Drugs & Therapeutics for Exostoses, Multiple, Type Iii

Search Clinical Trials , NIH Clinical Center for Exostoses, Multiple, Type Iii

Genetic Tests for Exostoses, Multiple, Type Iii

Anatomical Context for Exostoses, Multiple, Type Iii

Publications for Exostoses, Multiple, Type Iii

Articles related to Exostoses, Multiple, Type Iii:

(show all 43)
# Title Authors PMID Year
1
Genotype-phenotype correlation in hereditary multiple exostoses. 57 61
11432960 2001
2
A gene for hereditary multiple exostoses maps to chromosome 19p. 57
8081357 1994
3
A novel target cell for c-fos-induced oncogenesis: development of chondrogenic tumours in embryonic stem cell chimeras. 57
1714376 1991
4
The effect of stereoisomerism on the 4D-QSAR study of some dipeptidyl boron derivatives. 61
31918171 2020
5
The role of EXT1 gene mutation and its high expression of calcitonin gene-related peptide in the development of multiple exostosis. 61
30262140 2018
6
Pharmacophore Modelling and 4D-QSAR Study of Ruthenium(II) Arene Complexes as Anticancer Agents (Inhibitors) by Electron Conformational- Genetic Algorithm Method. 61
28554315 2018
7
4D-QSAR Study of Some Pyrazole Pyridine Carboxylic Acid Derivatives By Electron Conformational-Genetic Algorithm Method. 61
29756584 2018
8
Identification of a new mutation in an Iranian family with hereditary multiple osteochondromas. 61
28053536 2017
9
EXTENSIN18 is required for full male fertility as well as normal vegetative growth in Arabidopsis. 61
26257758 2015
10
Identification of the Abundant Hydroxyproline-Rich Glycoproteins in the Root Walls of Wild-Type Arabidopsis, an ext3 Mutant Line, and Its Phenotypic Revertant. 61
27135319 2015
11
Self-rescue of an EXTENSIN mutant reveals alternative gene expression programs and candidate proteins for new cell wall assembly in Arabidopsis. 61
23578334 2013
12
Fatty acid and vitamin E composition of intramuscular fat in cattle reared in different production systems. 61
20416720 2009
13
[A new EXT2 mutation in a Chinese family with hereditary multiple exostoses]. 61
19504431 2009
14
Novel EXT1 and EXT2 mutations in hereditary multiple exostoses families of Indian origin. 61
19309273 2009
15
Novel mutation in the EXT-1 gene in an Iranian family affected with hereditary multiple exostoses. 61
18810975 2008
16
Comparison of the effectiveness of the traditional acupuncture point, ST. 36 and Omura's ST.36 Point (True ST. 36) needling on the isokinetic knee extension & flexion strength of young soccer players. 61
18077938 2007
17
Three novel EXT1 and EXT2 gene mutations in Taiwanese patients with multiple exostoses. 61
16638657 2006
18
Novel mutations in the EXT1 gene in two consanguineous families affected with multiple hereditary exostoses (familial osteochondromatosis). 61
15253765 2004
19
Comparison of extenders, dilution ratios and theophylline addition on the function of cryopreserved walleye semen. 61
12041900 2002
20
[From gene to disease; hereditary multiple exostoses]. 61
11845565 2002
21
Mutation screening of the EXT genes in patients with hereditary multiple exostoses in Taiwan. 61
12490068 2002
22
Ext-mutation analysis in Italian sporadic and hereditary osteochondromas. 61
11668521 2001
23
Prolonged stage duration during incremental cycle exercise: effects on the lactate threshold and onset of blood lactate accumulation. 61
11560091 2001
24
EXT genes are differentially expressed in bone and cartilage during mouse embryogenesis. 61
10878610 2000
25
[Multiple exostoses]. 61
10921326 2000
26
Chondrosarcoma in a family with multiple hereditary exostoses. 61
10755438 2000
27
Mutation analysis of hereditary multiple exostoses in the Chinese. 61
10480354 1999
28
The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate. 61
9620772 1998
29
Clonal karyotypic abnormalities of the hereditary multiple exostoses chromosomal loci 8q24.1 (EXT1) and 11p11-12 (EXT2) in patients with sporadic and hereditary osteochondromas. 61
9576285 1998
30
Structure, chromosomal location, and expression profile of EXTR1 and EXTR2, new members of the multiple exostoses gene family. 61
9473480 1998
31
Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses. 61
9463333 1998
32
Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses. 61
9521425 1998
33
[Molecular cloning of EXT2 and EXT4 gene]. 61
10806756 1998
34
Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses. 61
9326317 1997
35
Identification of novel mutations in the human EXT1 tumor suppressor gene. 61
9150727 1997
36
The structure of the human multiple exostoses 2 gene and characterization of homologs in mouse and Caenorhabditis elegans. 61
9110175 1997
37
An extension of the admixture test for the study of genetic heterogeneity in hereditary multiple exostoses. 61
9050912 1997
38
Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies. 61
8981950 1997
39
Rhizobia modulate root-hair-specific expression of extensin genes. 61
9002273 1997
40
Positional cloning of a gene involved in hereditary multiple exostoses. 61
8894688 1996
41
Refinement of the multiple exostoses locus (EXT2) to a 3-cM interval on chromosome 11. 61
7668264 1995
42
Hereditary multiple exostosis and chondrosarcoma: linkage to chromosome II and loss of heterozygosity for EXT-linked markers on chromosomes II and 8. 61
7726168 1995
43
Loss of heterozygosity in chondrosarcomas for markers linked to hereditary multiple exostoses loci on chromosomes 8 and 11. 61
7726169 1995

Variations for Exostoses, Multiple, Type Iii

Expression for Exostoses, Multiple, Type Iii

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

Pathways for Exostoses, Multiple, Type Iii

GO Terms for Exostoses, Multiple, Type Iii

Sources for Exostoses, Multiple, Type Iii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....