Exostoses, Multiple, Type Ii disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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 ¹⁹ ⁷⁵ ²⁸ ¹² ⁵ ³⁸

Ext2 ⁵⁷ ⁷³ ⁷⁵

Hereditary Multiple Exostoses 2 ⁷³

Characteristics:

Inheritance:

Autosomal dominant ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
more severe in males than in females
onset early childhood
lesions continue to grow until epiphyseal plate closure

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases Metabolic diseases Fetal diseases
Anatomical: Bone diseases Muscle diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 133701

MedGen ⁴⁰ C1851413

SNOMED-CT via HPO ⁶⁹ 14990007 202664003 254044004 more

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Summaries for Exostoses, Multiple, Type Ii

GARD: ¹⁹ The disorder hereditary multiple osteochondromas (HMO), previously called hereditary multiple exostoses (HME), is characterized by growths of multiple osteochondromas (benign cartilage-capped bone tumors that grow outward from the metaphyses of long bones). Osteochondromas can be associated with a reduction in skeletal growth, bony deformity, restricted joint motion, shortened stature, premature osteoarthrosis, and compression of peripheral nerves. The median age of diagnosis is three years; nearly all affected individuals are diagnosed by age 12 years. The risk for malignant degeneration to osteochondrosarcoma increases with age, although the lifetime risk of malignant degeneration is low (~1%).

MalaCards based summary: Exostoses, Multiple, Type Ii, also known as exostoses, multiple, type 2, is related to hereditary multiple exostoses and exostoses, multiple, type i. An important gene associated with Exostoses, Multiple, Type Ii is EXT2 (Exostosin Glycosyltransferase 2). Affiliated tissues include bone, breast and prostate, and related phenotypes are multiple exostoses and chondrosarcoma

UniProtKB/Swiss-Prot: ⁷³ 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.

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. For a general phenotypic description and a discussion of genetic heterogeneity of multiple exostoses, see EXT1 (133700). (133701) (Updated 08-Dec-2022)

Wikipedia ⁷⁵ Ext2: Exostosin glycosyltransferase-2 is a protein that in humans is encoded by the EXT2... more...

Exostoses, multiple, type 2: Hereditary multiple osteochondromas (HMO), also known as hereditary multiple exostoses, is a disorder... more...

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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 top 50) (show all 54)

#	Related Disease	Score
1	hereditary multiple exostoses	11.4
2	exostoses, multiple, type i	11.4
3	hereditary multiple osteochondromas	11.3
4	potocki-shaffer syndrome	11.3
5	osteochondroma	11.3
6	exostosis	11.2
7	bone disease	11.2
8	chondrosarcoma	11.2
9	microcephaly	11.1
10	seizures, scoliosis, and macrocephaly/microcephaly syndrome	11.1
11	scoliosis	11.0
12	type 2 diabetes mellitus	11.0
13	spondyloepiphyseal dysplasia with congenital joint dislocations	11.0
14	dysostosis	11.0
15	craniosynostosis	11.0
16	enchondromatosis, multiple, ollier type	10.9
17	metachondromatosis	10.9
18	parietal foramina	10.9
19	coloboma of optic nerve	10.8
20	trichorhinophalangeal syndrome, type ii	10.8
21	larsen syndrome	10.8
22	optic nerve hypoplasia, bilateral	10.8
23	charcot-marie-tooth disease, x-linked recessive, 2	10.8
24	charcot-marie-tooth disease, x-linked recessive, 3	10.8
25	multiple enchondromatosis, maffucci type	10.8
26	ankylosing spondylitis 3	10.8
27	bone sarcoma	10.8
28	osteochondrodysplasia	10.8
29	juxtacortical chondroma	10.8
30	chondroma	10.8
31	breast pericanalicular fibroadenoma	10.8
32	periosteal chondrosarcoma	10.8
33	juxtacortical chondrosarcoma	10.8
34	clear cell chondrosarcoma	10.8
35	periosteal osteogenic sarcoma	10.8
36	hepatoblastoma	10.8
37	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a	10.6
38	exostoses, multiple, type iii	10.3
39	hypotonia	10.1
40	visual epilepsy	10.0
41	diabetes mellitus	10.0
42	oto-palatal-digital syndrome	10.0
43	hypertelorism	9.9
44	wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome	9.9
45	ceroid lipofuscinosis, neuronal, 5	9.9
46	ataxia with vitamin e deficiency	9.9
47	developmental and epileptic encephalopathy 36	9.9
48	acute insulin response	9.9
49	brachydactyly	9.9
50	epilepsy	9.9

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

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Symptoms & Phenotypes for Exostoses, Multiple, Type Ii

Human phenotypes related to Exostoses, Multiple, Type Ii:

³⁰ (show all 12)

#	Description	HPO Frequency	HPO Source Accession
1	multiple exostoses ³⁰	Very rare (1%)	HP:0002762
2	chondrosarcoma ³⁰	Very rare (1%)	HP:0006765
3	genu valgum ³⁰		HP:0002857
4	coxa vara ³⁰		HP:0002812
5	short metacarpal ³⁰		HP:0010049
6	rib exostoses ³⁰		HP:0000896
7	peripheral nerve compression ³⁰		HP:0003406
8	cervical myelopathy ³⁰		HP:0002318
9	scapular exostoses ³⁰		HP:0000918
10	madelung-like forearm deformities ³⁰		HP:0003068
11	protuberances at ends of long bones ³⁰		HP:0003105
12	pelvic bone exostoses ³⁰		HP:0003276

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Skeletal Limbs:
genu valgum
short metacarpal
madelung-like forearm deformities
protuberances at ends of long bones
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 (Updated 08-Dec-2022)

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Drugs & Therapeutics for Exostoses, Multiple, Type Ii

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

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Genetic Tests for Exostoses, Multiple, Type Ii

Genetic tests related to Exostoses, Multiple, Type Ii:

#	Genetic test	Affiliating Genes
1	Exostoses, Multiple, Type 2 ²⁸	EXT2

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Anatomical Context for Exostoses, Multiple, Type Ii

Organs/tissues related to Exostoses, Multiple, Type Ii:

MalaCards : Bone, Breast, Prostate, Endothelial, Brain, Lung, Ovary

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Publications for Exostoses, Multiple, Type Ii

Articles related to Exostoses, Multiple, Type Ii:

(show top 50) (show all 390)

#	Title	Authors	PMID	Year
1	Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants. ⁶² ⁵⁷ ⁵	Fusco C...Castori M	30806661	2019
2	New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas. ⁶² ⁵⁷ ⁵	Heinritz W...Froster UG	19344451	2009
3	Genotype-phenotype correlation in hereditary multiple exostoses. ⁶² ⁵⁷ ⁵	Francannet C...Legeai-Mallet L	11432960	2001
4	Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes. ⁶² ⁵⁷ ⁵	Wuyts W...Van Hul W	10679937	2000
5	Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses. ⁶² ⁵⁷ ⁵	Wuyts W...Willems PJ	9463333	1998
6	Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses. ⁶² ⁵⁷ ⁵	Philippe C...Monaco AP	9326317	1997
7	Positional cloning of a gene involved in hereditary multiple exostoses. ⁶² ⁵⁷ ⁵	Wuyts W...Willems PJ	8894688	1996
8	The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes. ⁶² ⁵⁷ ⁵	Stickens D...Evans GA	8782816	1996
9	[Analysis of EXT1 and EXT2 gene mutations in two Chinese pedigrees affected with hereditary multiple exostosis]. ⁶² ⁵	Bai Y...Kong X	31030431	2019
10	Novel exostosin-2 missense variants in a family with autosomal recessive exostosin-2-related syndrome: further evidences on the phenotype. ⁶² ⁵	Gentile M...Novelli A	30288735	2019
11	A genotype-phenotype study of hereditary multiple exostoses in forty-six Chinese patients. ⁶² ⁵	Li Y...Yu T	29126381	2017
12	Identification of mutations in EXT1 and EXT2 genes in six Chinese families with multiple osteochondromas. ⁶² ⁵	Xu Y...Zhang Z	28849184	2017
13	Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas. ⁶² ⁵	Ishimaru D...Matsumoto K	26961984	2016
14	Somatic loss of an EXT2 gene mutation during malignant progression in a patient with hereditary multiple osteochondromas. ⁶² ⁵	Musso N...Condorelli DF	25744876	2015
15	A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG. ⁶² ⁵	Delgado MA...Asteggiano CG	25230886	2014
16	Clinical characteristics of hereditary multiple exostoses: a retrospective study of mainland chinese cases in recent 23 years. ⁶² ⁵	Guo XL...Liu HG	24496678	2014
17	A splice mutation and mRNA decay of EXT2 provoke hereditary multiple exostoses. ⁶² ⁵	Tian C...Chen H	24728384	2014
18	Novel and recurrent mutations in the EXT1 and EXT2 genes in Chinese kindreds with multiple osteochondromas. ⁶² ⁵	Wu Y...Luo Y	23629877	2013
19	20 novel point mutations and one large deletion in EXT1 and EXT2 genes: report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis. ⁶² ⁵	Ciavarella M...D'Agruma L	23262345	2013
20	Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas. ⁶² ⁵	Sarrion P...Grinberg D	23439489	2013
21	Genotype-phenotype correlation study in 529 patients with multiple hereditary exostoses: identification of "protective" and "risk" factors. ⁶² ⁵	Pedrini E...Sangiorgi L	22258776	2011
22	Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb). ⁶² ⁵	Jennes I...Wuyts W	19810120	2009
23	Evaluation of the anatomic burden of patients with hereditary multiple exostoses. ⁶² ⁵	Alvarez CM...Casey B	17589361	2007
24	Determination of the mutation spectrum of the EXT1/EXT2 genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in EXT negative cases. ⁶² ⁵	Lonie L...Ragoussis J	17041877	2006
25	An optimized DHPLC protocol for molecular testing of the EXT1 and EXT2 genes in hereditary multiple osteochondromas. ⁶² ⁵	Wuyts W...Vits L	16283885	2005
26	Mutation screening of EXT1 and EXT2 by direct sequence analysis and MLPA in patients with multiple osteochondromas: splice site mutations and exonic deletions account for more than half of the mutations. ⁶² ⁵	Vink GR...Bakker E	15586175	2005
27	Two-color multiplex ligation-dependent probe amplification: detecting genomic rearrangements in hereditary multiple exostoses. ⁶² ⁵	White SJ...den Dunnen JT	15221792	2004
28	Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes. ⁶² ⁵	Bernard MA...Hecht JT	11169766	2001
29	Cytoskeletal abnormalities in chondrocytes with EXT1 and EXT2 mutations. ⁶² ⁵	Bernard MA...Hecht JT	10750558	2000
30	Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostoses. ⁶² ⁵	Dobson-Stone C...Monaco AP	10713884	2000
31	Interstitial deletion of 11(p11.2p12): a newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses (EXT2). ⁶² ⁵⁷	Potocki L...Shaffer LG	8882796	1996
32	Refinement of the multiple exostoses locus (EXT2) to a 3-cM interval on chromosome 11. ⁶² ⁵⁷	Wuyts W...de Vries B	7668264	1995
33	Hereditary multiple exostosis and chondrosarcoma: linkage to chromosome II and loss of heterozygosity for EXT-linked markers on chromosomes II and 8. ⁶² ⁵⁷	Hecht JT...Wagner M	7726168	1995
34	Mutational Analysis of Exostosin 1 and 2 Genes in Multiple Osteochondroma. ⁵	Malini K...Balakrishna S	25591329	2015
35	Hereditary multiple exostoses with spine involvement in a 4-year-old boy. ⁵	Ezra N...Dickson P	20425833	2010
36	The genotype-phenotype correlation of hereditary multiple exostoses. ⁵⁷	Alvarez C...Hayden M	16879194	2006
37	Splicing in action: assessing disease causing sequence changes. ⁵	Baralle D...Baralle M	16199547	2005
38	Hereditary multiple exostoses: confirmation of linkage to chromosomes 8 and 11. ⁵⁷	Blanton SH...Hecht JT	8882395	1996
39	WAGR syndrome and multiple exostoses in a patient with del(11)(p11.2p14.2). ⁵⁷	McGaughran JM...Evans DG	8558565	1995
40	Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11. ⁵⁷	Wu YQ...Halley DJ	8162019	1994
41	Genetic heterogeneity in families with hereditary multiple exostoses. ⁵⁷	Cook A...Schellenberg G	8317501	1993
42	An improved Fuzzy based GWO algorithm for predicting the potential host receptor of COVID-19 infection. ⁶²	Achom A...Pakray P	36334362	2022
43	Clinicopathologic features of non-lupus membranous nephropathy in a pediatric population. ⁶²	Miller P...Kambham N	35333973	2022
44	Clinical and Genetic Analysis of Multiple Osteochondromas in A Cohort of Argentine Patients. ⁶²	Caino S...Asteggiano CG	36360300	2022
45	Structure of the human heparan sulfate polymerase complex EXT1-EXT2. ⁶²	Leisico F...Wild R	36402845	2022
46	A frameshift variant in the EXT1 gene in a feline leukemia virus-negative cat with osteochondromatosis. ⁶²	Fujii Y...Mori T	35719100	2022
47	Osteochondroma formation is independent of heparanase expression as revealed in a mouse model of hereditary multiple exostoses. ⁶²	Mundy C...Pacifici M	34996123	2022
48	Adherence of Candida albicans and Malassezia Species to Skin Cells Induces Changes in the Expression of Genes Responsible for Heparan and Chondroitin Sulfate Chain Synthesis. ⁶²	Ordiales H...Martin C	35331724	2022
49	Novel Pathogenic Variant (c.1171A>T) in PHF21A in a Female with Intellectual Disability and Craniofacial Anomalies. ⁶²	Lee C...Kwon JA	36158052	2022
50	A Genotype-Phenotype Study of Multiple Hereditary Exostoses in Forty-Three Patients. ⁶²	Kim S...Jung ST	35806987	2022

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Genes for Exostoses, Multiple, Type Ii

Genes related to Exostoses, Multiple, Type Ii (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	EXT2	Exostosin Glycosyltransferase 2	Protein Coding	1325	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵	8782816 8894688 9326317 (more) 9463333 10679937 10713884 10750558 11169766 11432960 15221792 15586175 16199547 16283885 17041877 17589361 19344451 19810120 20425833 22258776 23262345 23439489 23629877 24496678 24728384 25591329 25744876 26961984 28849184 29126381 30288735 30806661 31030431 25230886

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Variations for Exostoses, Multiple, Type Ii

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

⁵ (show top 50) (show all 428)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	EXT2	NM_207122.2(EXT2):c.1305+1G>A	SNV	Pathogenic	2473	rs864309637	GRCh37: 11:44193293-44193293 GRCh38: 11:44171743-44171743
2	EXT2	NM_207122.2(EXT2):c.666C>G (p.Tyr222Ter)	SNV	Pathogenic	2475	rs121918281	GRCh37: 11:44135774-44135774 GRCh38: 11:44114224-44114224
3	EXT2	NM_207122.2(EXT2):c.772C>T (p.Gln258Ter)	SNV	Pathogenic	2476	rs267606786	GRCh37: 11:44146367-44146367 GRCh38: 11:44124817-44124817
4	EXT2	NC_000011.10:g.(?_44206773)_(44206979_?)del	DEL	Pathogenic	465696		GRCh37: 11:44228323-44228529 GRCh38: 11:44206773-44206979
5	EXT2	NC_000011.10:g.(?_44107663)_(44130158_?)del	DEL	Pathogenic	583463		GRCh37: 11:44129213-44151708 GRCh38: 11:44107663-44130158
6	EXT2	NM_207122.2(EXT2):c.211del (p.Leu71fs)	DEL	Pathogenic	853306	rs1954081372	GRCh37: 11:44129473-44129473 GRCh38: 11:44107923-44107923
7	EXT2	NC_000011.10:g.(?_44107663)_(44108268_?)del	DEL	Pathogenic	830793		GRCh37: 11:44129213-44129818 GRCh38:
8	EXT2	NC_000011.10:g.(?_44096233)_(44130158_?)del	DEL	Pathogenic	832079		GRCh37: 11:44117783-44151708 GRCh38:
9	EXT2	NM_207122.2(EXT2):c.426C>G (p.Tyr142Ter)	SNV	Pathogenic	834059	rs569199683	GRCh37: 11:44129688-44129688 GRCh38: 11:44108138-44108138
10	EXT2	NM_207122.2(EXT2):c.1179del (p.Trp394fs)	DEL	Pathogenic	982763	rs1955074882	GRCh37: 11:44193165-44193165 GRCh38: 11:44171615-44171615
11	EXT2	NM_207122.2(EXT2):c.863A>G (p.Asn288Ser)	SNV	Pathogenic	983551	rs745738318	GRCh37: 11:44146458-44146458 GRCh38: 11:44124908-44124908
12	EXT2	NM_207122.2(EXT2):c.1052C>T (p.Pro351Leu)	SNV	Pathogenic	983552	rs1954415964	GRCh37: 11:44148478-44148478 GRCh38: 11:44126928-44126928
13	EXT2	NM_207122.2(EXT2):c.1079+1G>C	SNV	Pathogenic	992631	rs1369420640	GRCh37: 11:44148506-44148506 GRCh38: 11:44126956-44126956
14	EXT2	NM_207122.2(EXT2):c.782_783del (p.Leu261fs)	MICROSAT	Pathogenic	917883	rs1954374127	GRCh37: 11:44146375-44146376 GRCh38: 11:44124825-44124826
15	EXT2	NC_000011.9:g.(?_44146456)_44156975del	DEL	Pathogenic	1070872		GRCh37: GRCh38:
16	EXT2	NM_207122.2(EXT2):c.728del (p.Pro243fs)	DEL	Pathogenic	1251963		GRCh37: 11:44135835-44135835 GRCh38: 11:44114285-44114285
17	EXT2	NM_207122.2(EXT2):c.1080-1G>A	SNV	Pathogenic	1378644		GRCh37: 11:44151594-44151594 GRCh38: 11:44130044-44130044
18	EXT2	NM_207122.2(EXT2):c.398_402del (p.Leu133fs)	DEL	Pathogenic	1386232		GRCh37: 11:44129659-44129663 GRCh38: 11:44108109-44108113
19	EXT2	NM_207122.2(EXT2):c.537-4_561del	DEL	Pathogenic	1392678		GRCh37: 11:44130738-44130766 GRCh38: 11:44109188-44109216
20	EXT2	NM_207122.2(EXT2):c.729del (p.Glu244fs)	DEL	Pathogenic	1382216		GRCh37: 11:44135837-44135837 GRCh38: 11:44114287-44114287
21	EXT2	NM_207122.2(EXT2):c.705_706del (p.Leu236fs)	DEL	Pathogenic	1407563		GRCh37: 11:44135812-44135813 GRCh38: 11:44114262-44114263
22	EXT2	NM_207122.2(EXT2):c.1824T>A (p.Tyr608Ter)	SNV	Pathogenic	1414023		GRCh37: 11:44255682-44255682 GRCh38: 11:44234132-44234132
23	EXT2	NM_207122.2(EXT2):c.779del (p.Gly260fs)	DEL	Pathogenic	1409142		GRCh37: 11:44146372-44146372 GRCh38: 11:44124822-44124822
24	EXT2	NM_207122.2(EXT2):c.89del (p.Phe30fs)	DEL	Pathogenic	1454141		GRCh37: 11:44129350-44129350 GRCh38: 11:44107800-44107800
25	EXT2	NM_207122.2(EXT2):c.1013del (p.Gly338fs)	DEL	Pathogenic	1417949		GRCh37: 11:44148438-44148438 GRCh38: 11:44126888-44126888
26	EXT2	NM_207122.2(EXT2):c.1003_1004insA (p.Leu335fs)	INSERT	Pathogenic	1432441		GRCh37: 11:44148429-44148430 GRCh38: 11:44126879-44126880
27	EXT2	NM_207122.2(EXT2):c.750del (p.Gln251fs)	DEL	Pathogenic	1427412		GRCh37: 11:44146344-44146344 GRCh38: 11:44124794-44124794
28	EXT2	NM_207122.2(EXT2):c.620_626+158del	DEL	Pathogenic	1405824		GRCh37: 11:44130827-44130991 GRCh38: 11:44109277-44109441
29	EXT2	NM_207122.2(EXT2):c.1286G>A (p.Trp429Ter)	SNV	Pathogenic	1457793		GRCh37: 11:44193273-44193273 GRCh38: 11:44171723-44171723
30	EXT2	NC_000011.9:g.(?_44129235)_(44151698_?)del	DEL	Pathogenic	1459798		GRCh37: 11:44129235-44151698 GRCh38:
31	EXT2	NM_207122.2(EXT2):c.244dup (p.Asp82fs)	DUP	Pathogenic	1457792		GRCh37: 11:44129500-44129501 GRCh38: 11:44107950-44107951
32	EXT2	NM_207122.2(EXT2):c.939+1del	DEL	Pathogenic	1451350		GRCh37: 11:44146534-44146534 GRCh38: 11:44124984-44124984
33	EXT2	NM_207122.2(EXT2):c.744-2A>C	SNV	Pathogenic	2477	rs864309638	GRCh37: 11:44146337-44146337 GRCh38: 11:44124787-44124787
34	EXT2	NM_207122.2(EXT2):c.398_401dup (p.Met135fs)	DUP	Pathogenic	279944	rs886041272	GRCh37: 11:44129659-44129660 GRCh38: 11:44108109-44108110
35	EXT2	NM_207122.2(EXT2):c.394G>T (p.Glu132Ter)	SNV	Pathogenic	838385	rs1954086080	GRCh37: 11:44129656-44129656 GRCh38: 11:44108106-44108106
36	EXT2	NM_207122.2(EXT2):c.699T>G (p.Tyr233Ter)	SNV	Pathogenic	848100	rs1319747883	GRCh37: 11:44135807-44135807 GRCh38: 11:44114257-44114257
37	EXT2	NM_207122.2(EXT2):c.602_603del (p.Thr201fs)	MICROSAT	Pathogenic	853100	rs1954107890	GRCh37: 11:44130806-44130807 GRCh38: 11:44109256-44109257
38	EXT2	NM_207122.2(EXT2):c.321T>A (p.Tyr107Ter)	SNV	Pathogenic	940247	rs767802942	GRCh37: 11:44129583-44129583 GRCh38: 11:44108033-44108033
39	EXT2	NM_207122.2(EXT2):c.743+1G>A	SNV	Pathogenic	265474	rs886039567	GRCh37: 11:44135852-44135852 GRCh38: 11:44114302-44114302
40	EXT2	NM_207122.2(EXT2):c.129_130delinsGT (p.Phe43_Gln44delinsLeuTer)	INDEL	Pathogenic	944624	rs1954079044	GRCh37: 11:44129391-44129392 GRCh38: 11:44107841-44107842
41	EXT2	NM_207122.2(EXT2):c.1024del (p.Val342fs)	DEL	Pathogenic	945848	rs1954415156	GRCh37: 11:44148449-44148449 GRCh38: 11:44126899-44126899
42	EXT2	NM_207122.2(EXT2):c.1124_1125del (p.Ser375fs)	DEL	Pathogenic	949813	rs1954470017	GRCh37: 11:44151639-44151640 GRCh38: 11:44130089-44130090
43	EXT2	NM_207122.2(EXT2):c.1144C>T (p.Gln382Ter)	SNV	Pathogenic	950526	rs1954470670	GRCh37: 11:44151659-44151659 GRCh38: 11:44130109-44130109
44	EXT2	NM_207122.2(EXT2):c.482del (p.Asn161fs)	DEL	Pathogenic	951628	rs1590548336	GRCh37: 11:44129743-44129743 GRCh38: 11:44108193-44108193
45	EXT2	NM_207122.2(EXT2):c.952_964del (p.Cys318fs)	DEL	Pathogenic	963513	rs1954411719	GRCh37: 11:44148375-44148387 GRCh38: 11:44126825-44126837
46	EXT2	NM_207122.2(EXT2):c.1577dup (p.Tyr526Ter)	DUP	Pathogenic	1076808		GRCh37: 11:44228423-44228424 GRCh38: 11:44206873-44206874
47	EXT2	NM_207122.2(EXT2):c.514C>T (p.Gln172Ter)	SNV	Pathogenic Pathogenic	2472	rs121918279	GRCh37: 11:44129776-44129776 GRCh38: 11:44108226-44108226
48	EXT2	NM_207122.2(EXT2):c.906_907dup (p.His303fs)	DUP	Pathogenic	279805	rs886041199	GRCh37: 11:44146500-44146501 GRCh38: 11:44124950-44124951
49	EXT2	NM_207122.2(EXT2):c.937C>T (p.Gln313Ter)	SNV	Pathogenic	265134	rs763718818	GRCh37: 11:44146532-44146532 GRCh38: 11:44124982-44124982
50	EXT2	NM_207122.2(EXT2):c.429C>A (p.Tyr143Ter)	SNV	Pathogenic	465701	rs1555002543	GRCh37: 11:44129691-44129691 GRCh38: 11:44108141-44108141

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

⁷³

#	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

Cosmic variations for Exostoses, Multiple, Type Ii:

⁸ (show top 50) (show all 93)

#	Cosmic Mut ID	Gene Symbol	COSMIC Disease Classification (Primary site, Site subtype, Primary histology, Histology subtype)	Mutation CDS	Mutation AA	GRCh38 Location	Conf
1	COSM90465396	IDH1	bone,scapula,chondrosarcoma,NS	c.394C>T	p.R132C	2:208248389-208248389	5
2	COSM90465359	IDH1	bone,scapula,chondrosarcoma,NS	c.395G>A	p.R132H	2:208248388-208248388	5
3	COSM91752194	COL2A1	bone,NS,chondrosarcoma,peripheral	c.2437G>A	p.G813S	12:47980044-47980044	5
4	COSM99787236	COL2A1	bone,NS,chondrosarcoma,peripheral	c.2644G>A	p.G882S	12:47980044-47980044	5
5	COSM99787225	COL2A1	bone,NS,chondrosarcoma,peripheral	c.3145G>A	p.D1049N	12:47977620-47977620	5
6	COSM91752188	COL2A1	bone,NS,chondrosarcoma,peripheral	c.2938G>A	p.D980N	12:47977620-47977620	5
7	COSM86645205	RB1	bone,tibia,osteosarcoma,NS	c.1499-1G>T	p.?	13:48381246-48381246	4
8	COSM86624252	RB1	bone,tibia,osteosarcoma,NS	c.1215+1G>A	p.?	13:48373493-48373493	4
9	COSM90850096	KMT2C	bone,femur,osteosarcoma,NS	c.7214A>G	p.E2405G	7:152180062-152180062	4
10	COSM88388477	KMT2C	bone,femur,osteosarcoma,NS	c.1181G>A	p.C394Y	7:152265041-152265041	4
11	COSM88442911	KMT2C	bone,femur,osteosarcoma,NS	c.8174A>G	p.E2725G	7:152177279-152177279	4
12	COSM88389816	KMT2C	bone,femur,osteosarcoma,NS	c.2459C>T	p.T820I	7:152247975-152247975	4
13	COSM88442935	KMT2C	bone,femur,osteosarcoma,NS	c.1277C>A	p.P426Q	7:152263038-152263038	4
14	COSM90850069	KMT2C	bone,femur,osteosarcoma,NS	c.9769G>A	p.E3257K	7:152163808-152163808	4
15	COSM90792434	KMT2C	bone,femur,osteosarcoma,NS	c.2656C>T	p.R886C	7:152235930-152235930	4
16	COSM90790761	KMT2C	bone,femur,osteosarcoma,NS	c.1181G>A	p.C394Y	7:152265041-152265041	4
17	COSM88441962	KMT2C	bone,femur,osteosarcoma,NS	c.404C>T	p.A135V	7:152315324-152315324	4
18	COSM90850919	KMT2C	bone,femur,osteosarcoma,NS	c.8174A>G	p.E2725G	7:152177279-152177279	4
19	COSM88442922	KMT2C	bone,femur,osteosarcoma,NS	c.6632G>C	p.R2211T	7:152181228-152181228	4
20	COSM90850929	KMT2C	bone,femur,osteosarcoma,NS	c.6632G>C	p.R2211T	7:152181228-152181228	4
21	COSM88441911	KMT2C	bone,femur,osteosarcoma,NS	c.7318C>T	p.P2440S	7:152179958-152179958	4
22	COSM90850116	KMT2C	bone,femur,osteosarcoma,NS	c.3119C>A	p.P1040Q	7:152224474-152224474	4
23	COSM88387461	KMT2C	bone,femur,osteosarcoma,NS	c.2512G>A	p.G838S	7:152247922-152247922	4
24	COSM90850903	KMT2C	bone,femur,osteosarcoma,NS	c.9622T>C	p.S3208P	7:152167274-152167274	4
25	COSM88441921	KMT2C	bone,femur,osteosarcoma,NS	c.7214A>G	p.E2405G	7:152180062-152180062	4
26	COSM90850111	KMT2C	bone,femur,osteosarcoma,NS	c.3155A>T	p.K1052I	7:152224438-152224438	4
27	COSM90789498	KMT2C	bone,femur,osteosarcoma,NS	c.2512G>A	p.G838S	7:152247922-152247922	4
28	COSM90792686	KMT2C	bone,femur,osteosarcoma,NS	c.2459C>T	p.T820I	7:152247975-152247975	4
29	COSM88442892	KMT2C	bone,femur,osteosarcoma,NS	c.9622T>C	p.S3208P	7:152167274-152167274	4
30	COSM88441896	KMT2C	bone,femur,osteosarcoma,NS	c.9769G>A	p.E3257K	7:152163808-152163808	4
31	COSM88441903	KMT2C	bone,femur,osteosarcoma,NS	c.9182A>G	p.Q3061R	7:152176271-152176271	4
32	COSM90809622	KMT2C	bone,femur,osteosarcoma,NS	c.2468T>C	p.I823T	7:152247966-152247966	4
33	COSM88442928	KMT2C	bone,femur,osteosarcoma,NS	c.5459C>G	p.S1820C	7:152182401-152182401	4
34	COSM88403451	KMT2C	bone,femur,osteosarcoma,NS	c.10383T>G	p.D3461E	7:152163194-152163194	4
35	COSM88441945	KMT2C	bone,femur,osteosarcoma,NS	c.3119C>A	p.P1040Q	7:152224474-152224474	4
36	COSM88442903	KMT2C	bone,femur,osteosarcoma,NS	c.9617G>C	p.R3206T	7:152167279-152167279	4
37	COSM90850945	KMT2C	bone,femur,osteosarcoma,NS	c.1277C>A	p.P426Q	7:152263038-152263038	4
38	COSM90850106	KMT2C	bone,femur,osteosarcoma,NS	c.5669G>C	p.R1890P	7:152182191-152182191	4
39	COSM90850089	KMT2C	bone,femur,osteosarcoma,NS	c.7318C>T	p.P2440S	7:152179958-152179958	4
40	COSM88441951	KMT2C	bone,femur,osteosarcoma,NS	c.3029G>T	p.C1010F	7:152224564-152224564	4
41	COSM90788208	KMT2C	bone,femur,osteosarcoma,NS	c.925C>T	p.P309S	7:152273792-152273792	4
42	COSM88403468	KMT2C	bone,femur,osteosarcoma,NS	c.2468T>C	p.I823T	7:152247966-152247966	4
43	COSM90850133	KMT2C	bone,femur,osteosarcoma,NS	c.404C>T	p.A135V	7:152315324-152315324	4
44	COSM88389429	KMT2C	bone,femur,osteosarcoma,NS	c.2656C>T	p.R886C	7:152235930-152235930	4
45	COSM88386447	KMT2C	bone,femur,osteosarcoma,NS	c.925C>T	p.P309S	7:152273792-152273792	4
46	COSM88441939	KMT2C	bone,femur,osteosarcoma,NS	c.3155A>T	p.K1052I	7:152224438-152224438	4
47	COSM90850077	KMT2C	bone,femur,osteosarcoma,NS	c.9182A>G	p.Q3061R	7:152176271-152176271	4
48	COSM90850910	KMT2C	bone,femur,osteosarcoma,NS	c.9617G>C	p.R3206T	7:152167279-152167279	4
49	COSM90850939	KMT2C	bone,femur,osteosarcoma,NS	c.5459C>G	p.S1820C	7:152182401-152182401	4
50	COSM90809603	KMT2C	bone,femur,osteosarcoma,NS	c.10383T>G	p.D3461E	7:152163194-152163194	4

Sources

Expression for Exostoses, Multiple, Type Ii

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

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Sources for Exostoses, Multiple, Type Ii

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²⁶ GEO DataSets

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³¹ ICD10

³² ICD10 via Orphanet

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³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

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³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

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⁴⁴ MESH via Orphanet

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⁵¹ NIH Clinical Center

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⁵⁴ Novus Biologicals

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⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

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⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

EXT2 MCID: EXS020 MIFTS: 39	Exostoses, Multiple, Type Ii (EXT2) Categories: Bone diseases, Cancer diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Exostoses, Multiple, Type Ii (EXT2)

Aliases & Classifications for Exostoses, Multiple, Type Ii

MalaCards integrated aliases for Exostoses, Multiple, Type Ii:

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Summaries for Exostoses, Multiple, Type Ii

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Diseases in the Hereditary Multiple Exostoses family:

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

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Expression for Exostoses, Multiple, Type Ii

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