EXT1 gene related symptoms and diseases
All the information presented here about the EXT1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to EXT1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Short stature | Common - Between 50% and 80% cases |
| Genu valgum | Common - Between 50% and 80% cases |
| Exostoses | Common - Between 50% and 80% cases |
| Chondrosarcoma | Common - Between 50% and 80% cases |
| Multiple exostoses | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with EXT1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Madelung deformity
- Neoplasm
- Abnormality of the skeletal system
- Scapular exostoses
- Rib exostoses
- Abnormality of the dentition
- Scoliosis
- Pelvic bone exostoses
And 112 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to EXT1 gene
Here you will find a list of rare diseases related to the EXT1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MULTIPLE OSTEOCHONDROMAS
Alternate names
MULTIPLE OSTEOCHONDROMAS Is also known as multiple cartilaginous exostoses, bessel-hagen disease
Description
Multiple osteochondromas (MO) is characterised by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones.
Most common symptoms of MULTIPLE OSTEOCHONDROMAS
- Short stature
- Scoliosis
- Neoplasm
- Failure to thrive
- Muscle weakness
More info about MULTIPLE OSTEOCHONDROMAS
SOURCES: ORPHANET
EXOSTOSES, MULTIPLE, TYPE I
Alternate names
EXOSTOSES, MULTIPLE, TYPE I Is also known as multiple cartilaginous exostoses, ext1, multiple osteochondromas, diaphyseal aclasis, ext, osteochondromatosis
Description
Multiple hereditary exostoses (EXT) is an autosomal dominant disorder characterized by multiple projections of bone capped by cartilage, most numerous in the metaphyses of long bones, but also occurring on the diaphyses of long bones. Flat bones, vertebrae, and the ribs may also be affected, but the skull is usually not involved. Deformity of the legs, forearms (resembling Madelung deformity), and hands is frequent (Peterson, 1989).Two conditions in which multiple exostoses occur are metachondromatosis (OMIM ) and the Langer-Giedion syndrome (LGS ); the latter condition is also known as trichorhinophalangeal syndrome type II. Furthermore, exostosis-like lesions occur with fibrodysplasia ossificans progressiva (FOP ), occipital horn syndrome (OMIM ), and the adult stage of hereditary hypophosphatemia (see {307800}); these exostoses are located at sites of tendon and muscle attachment. A relatively rare variant of the supracondylar process, on the anteromedial surface of the distal humerus, can be confused with an exostosis; the variant is said to be present in about 1% of persons of European descent (Silverman, 1985).
Most common symptoms of EXOSTOSES, MULTIPLE, TYPE I
- Short stature
- Neoplasm
- Depressivity
- Abnormality of the foot
- Genu valgum
More info about EXOSTOSES, MULTIPLE, TYPE I
SOURCES: OMIM
TRICHORHINOPHALANGEAL SYNDROME TYPE 2
Alternate names
TRICHORHINOPHALANGEAL SYNDROME TYPE 2 Is also known as langer-giedion syndrome, deletion 8q24.1, chromosome 8q24.1 deletion syndrome, lgs, monosomy 8q24.1
Description
Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability.
Most common symptoms of TRICHORHINOPHALANGEAL SYNDROME TYPE 2
- Intellectual disability
- Seizures
- Short stature
- Generalized hypotonia
- Hearing impairment
More info about TRICHORHINOPHALANGEAL SYNDROME TYPE 2
CHONDROSARCOMA
Description
Chondrosarcoma is a malignant bone tumor arising from cartilaginous tissue, most frequently occuring at the ends of the femur and tibia, the proximal end of the humerus and the pelvis; and presenting with a palpable mass and progressive pain. Chondrosarcoma is usually slow growing at low histological grades and can be well managed by intralesional curettage or en-block wide resection.
Most common symptoms of CHONDROSARCOMA
- Abnormality of the skeletal system
- Chondrosarcoma
More info about CHONDROSARCOMA
Search interest in EXT1
Potential gene panels for EXT1 gene
Hereditary Multiple Osteochrondomas-HMO Panel
United States.
By Genetics Laboratory Shodair Children's Hospital
This panel specifically test the EXT1 gene.
More info about this panel United States.
EXT1 Deletion/duplication analysis Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the EXT1 gene.
More info about this panel United States.
EXT1 Sequencing Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the EXT1 gene.
More info about this panel United States.
EXT1 Panel
Belgium.
By Department of Medical Genetics - Wuyts Lab Antwerp University Hospital
This panel specifically test the EXT1 gene.
More info about this panel Belgium.
EXT1. MLPA testing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the EXT1 gene.
More info about this panel Spain.
EXT1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the EXT1 gene.
More info about this panel Spain.
CHOP Comprehensive Hereditary Cancer Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia CHOP Comprehensive Hereditary Cancer Panel that also includes the following genes: RMRP RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A SH2D1A SLC25A13
More info about this panel United States.
Trichorhinophalangeal Syndrome Type II [Langer-Giedion Syndrome] Panel
Portugal.
By CGC Genetics Trichorhinophalangeal Syndrome Type II [Langer-Giedion Syndrome] that also includes the following genes: TRPS1 EXT1
More info about this panel Portugal.
Exostoses (sequence analysis of EXT1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the EXT1 gene.
More info about this panel Portugal.
Exostoses, multiple (deletion/duplication analysis of EXT1 and EXT2 genes) Panel
Portugal.
By CGC Genetics Exostoses, multiple (deletion/duplication analysis of EXT1 and EXT2 genes) that also includes the following genes: EXT1 EXT2
More info about this panel Portugal.
Exostoses multiple (sequence analysis of EXT1 and EXT2 genes) Panel
Portugal.
By CGC Genetics Exostoses multiple (sequence analysis of EXT1 and EXT2 genes) that also includes the following genes: EXT1 EXT2
More info about this panel Portugal.
OncoRisk (NGS panel for 48 genes) Panel
Portugal.
By CGC Genetics OncoRisk (NGS panel for 48 genes) that also includes the following genes: SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 VHL
More info about this panel Portugal.
OncoRisk Plus (NGS panel for 89 genes) Panel
Portugal.
By CGC Genetics OncoRisk Plus (NGS panel for 89 genes) that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11
More info about this panel Portugal.
Cancer Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Cancer Sequencing Panel with CNV Detection that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4
More info about this panel United States.
Hereditary Multiple Osteochondromas (HMO) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Hereditary Multiple Osteochondromas (HMO) Sequencing Panel with CNV Detection that also includes the following genes: EXT1 EXT2
More info about this panel United States.
Hereditary Multiple Osteochondromas (HMO) via EXT1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the EXT1 gene.
More info about this panel United States.
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4
More info about this panel United States.
Multiple exostoses NGS panel Panel
United States.
By Connective Tissue Gene Tests Multiple exostoses NGS panel that also includes the following genes: EXT1 EXT2
More info about this panel United States.
Multiple exostoses Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Multiple exostoses Deletion / Duplication panel that also includes the following genes: EXT1 EXT2
More info about this panel United States.
Multiple exostoses Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Multiple exostoses Comprehensive panel that also includes the following genes: EXT1 EXT2
More info about this panel United States.
Hereditary Cancer Syndromes - panels Panel
Germany.
By MGZ Medical Genetics Center Hereditary Cancer Syndromes - panels that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11
More info about this panel Germany.
Exostoses, multiple, type 1 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the EXT1 gene.
More info about this panel Germany.
Langer-Giedion syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the EXT1 gene.
More info about this panel Germany.
Chondrosarcoma Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the EXT1 gene.
More info about this panel Germany.
Single gene testing EXT1 Panel
Germany.
By CeGaT GmbH
This panel specifically test the EXT1 gene.
More info about this panel Germany.
Cancer Predisposition Panel
Estonia.
By Asper Biogene Asper Biogene LLC Cancer Predisposition that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1
More info about this panel Estonia.
Hereditary multiple osteochondromas, EXT1 sequencing Panel
United States.
By Molecular Diagnostics Laboratory University of Toledo Medical Center
This panel specifically test the EXT1 gene.
More info about this panel United States.
EXT1 Gene Sequencing Panel
Colombia.
By GENETIX Centro de Investigación en Genética Humana y Reproductiva
This panel specifically test the EXT1 gene.
More info about this panel Colombia.
Invitae Hereditary Multiple Osteochondromas Panel Panel
United States.
By Invitae Invitae Hereditary Multiple Osteochondromas Panel that also includes the following genes: EXT1 EXT2
More info about this panel United States.
Invitae Trichorhinophalangeal Syndrome Panel Panel
United States.
By Invitae Invitae Trichorhinophalangeal Syndrome Panel that also includes the following genes: TRPS1 EXT1
More info about this panel United States.
Osteochondromatosis type I and II: EXT1 and EXT2 genes sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Osteochondromatosis type I and II: EXT1 and EXT2 genes sequence analysis that also includes the following genes: EXT1 EXT2
More info about this panel Spain.
Osteochondromatosis type I: EXT1 gene deletions-duplications analysis (MLPA) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the EXT1 gene.
More info about this panel Spain.
Osteochondromatosis type I: EXT1 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the EXT1 gene.
More info about this panel Spain.
Congenital disorder of O-linked glycosylation (CDG) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Congenital disorder of O-linked glycosylation (CDG) that also includes the following genes: XYLT1 B4GAT1 HES7 CHSY1 B3GALT6 FKRP POMGNT1 CHST3 POMT2 B3GLCT
More info about this panel Spain.
Congenital Disorders of Glycosylation: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Disorders of Glycosylation: Sequencing Panel that also includes the following genes: RPN2 SEC23B ST3GAL3 ST3GAL5 SLC35A1 COG5 ALG9 CHSY1 NGLY1 FKRP
More info about this panel United States.
Disproportionate Short Stature: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Disproportionate Short Stature: Sequencing Panel that also includes the following genes: ROR2 RUNX2 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TBCE TBX6 TRIP11
More info about this panel United States.
Skeletal Dysplasia: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Skeletal Dysplasia: Sequencing Panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SHOX SLC25A12 SLC26A2
More info about this panel United States.
Disproportionate Short Stature: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Disproportionate Short Stature: Deletion/Duplication Panel that also includes the following genes: ROR2 RUNX2 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TBCE TRIP11 TRPS1
More info about this panel United States.
Congenital Disorders of Glycosylation: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Disorders of Glycosylation: Deletion/Duplication Panel that also includes the following genes: RPN2 SEC23B ST3GAL3 ST3GAL5 SLC35A1 COG5 ALG9 CHSY1 NGLY1 FKRP
More info about this panel United States.
Hereditary Cancer NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Hereditary Cancer NGS Panel that also includes the following genes: ROBO2 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1
More info about this panel United States.
Skeletal Dysplasias NGS panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Skeletal Dysplasias NGS panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SLC25A12 SLC26A2 SMARCAL1
More info about this panel United States.
Hereditary-Multiple-Osteochondromas Panel
United States.
By Fulgent Genetics Fulgent Genetics Hereditary-Multiple-Osteochondromas that also includes the following genes: EXT1 EXT2
More info about this panel United States.
EXT1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the EXT1 gene.
More info about this panel United States.
Comprehensive Cancer Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Comprehensive Cancer Panel that also includes the following genes: ROBO2 RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2
More info about this panel United States.
Hemato-oncology chromosomal microarray Panel
United States.
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center Hemato-oncology chromosomal microarray that also includes the following genes: BLM BRAF BRCA1 BRCA2 SMARCB1 KDM5C SMO ABI1 SSX1 SSX2
More info about this panel United States.
Comprehensive Hereditary Cancer Panel Panel
Finland.
By Blueprint Genetics Comprehensive Hereditary Cancer Panel that also includes the following genes: RIT1 RRAS RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRAF
More info about this panel Finland.
Comprehensive Skeletal Dysplasias and Disorders Panel Panel
Finland.
By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX
More info about this panel Finland.
Micromelic Dysplasia Panel Panel
Finland.
By Blueprint Genetics Micromelic Dysplasia Panel that also includes the following genes: ROR2 BMPR1B SHOX SOX9 TRIP11 TRPS1 WNT5A ADAMTS10 IFT122 ADAMTSL2
More info about this panel Finland.
Exostosis and Related Disorders Panel Panel
Finland.
By Blueprint Genetics Exostosis and Related Disorders Panel that also includes the following genes: EXT1 EXT2 PTPN11
More info about this panel Finland.
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel
Finland.
By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D
More info about this panel Finland.
Multiple cartilaginous exostoses type 1 Panel
Spain.
By Bioarray
This panel specifically test the EXT1 gene.
More info about this panel Spain.
Caris MI TumorSeek 592-Gene NGS Panel Panel
United States.
By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1
More info about this panel United States.
OSTEOCHONDROMA Panel
Spain.
By Laboratorio de Genetica Clinica SL OSTEOCHONDROMA that also includes the following genes: EXT1 EXT2
More info about this panel Spain.
MULTIPLE EXOSTOSES (MULTIPLE OSTEOCHONDROMAS) Panel
Spain.
By Laboratorio de Genetica Clinica SL MULTIPLE EXOSTOSES (MULTIPLE OSTEOCHONDROMAS) that also includes the following genes: EXT1 EXT2
More info about this panel Spain.
Osteochondromatosis Type 1 , Sequencing EXT1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the EXT1 gene.
More info about this panel Spain.
Osteochondromatosis Type 1 , Deletions-Duplications (MLPA) EXT1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the EXT1 gene.
More info about this panel Spain.
Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes Panel
Spain.
By Reference Laboratory Genetics Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11
More info about this panel Spain.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
Hereditary Multiple Osteochondromas: gene deletion/duplication panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Hereditary Multiple Osteochondromas: gene deletion/duplication panel that also includes the following genes: EXT1 EXT2
More info about this panel Canada.
Hereditary Multiple Osteochondromas: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Hereditary Multiple Osteochondromas: gene sequencing panel that also includes the following genes: EXT1 EXT2
More info about this panel Canada.
CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel that also includes the following genes: RNASEL RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2
More info about this panel Canada.
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