Exostoses, Multiple, Type Ii

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Hereditary multiple exostoses is an autosomal dominant disorder characterized by multiple exostoses most commonly arising from the juxtaepiphyseal region of the long bones.

Genes related to Exostoses, Multiple, Type Ii

EXT2

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Clinical Features

Top most frequent phenotypes and symptoms related to Exostoses, Multiple, Type Ii

Short stature
Genu valgum
Short metacarpal
Coxa vara
Exostoses
Chondrosarcoma
Multiple exostoses
Cervical myelopathy
Pelvic bone exostoses
Rib exostoses

And another 4 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Exostoses, Multiple, Type Ii Is also known as ext2.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Exostoses, Multiple, Type Ii Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hereditary Multiple Osteochrondomas-HMO Type 2. By Genetics Laboratory Shodair Children's Hospital (United States). EXT2 Specificity 100 % Genes 100 %
EXT2 Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). EXT2 Specificity 100 % Genes 100 %
EXT2 Deletion/duplication analysis. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). EXT2 Specificity 100 % Genes 100 %
EXT2. By Department of Medical Genetics - Wuyts Lab Antwerp University Hospital (Belgium). EXT2 Specificity 100 % Genes 100 %
EXT2. MLPA testing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). EXT2 Specificity 100 % Genes 100 %
EXT2. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). EXT2 Specificity 100 % Genes 100 %
CHOP Comprehensive Hereditary Cancer Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States). RMRP, RUNX1, BLM, SDHA, SDHB, SDHC, SDHD, BMPR1A, SH2D1A, SLC25A13, BRCA1, BRCA2, SMARCA4, SMARCB1, SMARCE1, BUB1B, EPCAM, XPA, IKZF1, CBL , (...) View the complete list with 85 more genes Panel complete gene list RMRP, RUNX1, BLM, SDHA, SDHB, SDHC, SDHD, BMPR1A, SH2D1A, SLC25A13, BRCA1, BRCA2, SMARCA4, SMARCB1, SMARCE1, BUB1B, EPCAM, XPA, IKZF1, CBL, CDC73, HAX1, DICER1, ARID5B, CDH1, CDK4, CDKN1B, CDKN1C, CDKN2A, CEBPA, CEBPE, DDX41, DOCK8, SBDS, BRIP1, RHBDF2, COL7A1, G6PC3, CYLD, SDHAF2, PALB2, DDB2, FLCN, DIS3L2, DKC1, EGFR, ELANE, ERCC2, ERCC3, ERCC4, ERCC5, ETV6, EXT1, EXT2, FAH, FANCA, FANCC, FANCG, FH, GATA2, GBA, ABCB11, ALK, GJB2, GPC3, HFE, HMBS, HRAS, APC, ITK, KIT, SMAD4, MAX, MEN1, MET, MLH1, MPL, MSH2, MSH6, MTAP, MUTYH, NBN, NF1, NF2, ATM, PAX5, PDGFRA, SERPINA1, AXIN2, PMS2, PHOX2B, POLD1, POLE, POLH, PRKAR1A, PRSS1, BAP1, PTCH1, PTEN, PTPN11, RAD51C, RAD51D, RB1, RECQL4, RET Specificity 1 % Genes 100 %
Exostoses (sequence analysis of EXT2 gene). By CGC Genetics (Portugal). EXT2 Specificity 100 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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