EVC gene related symptoms and diseases
All the information presented here about the EVC gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to EVC gene
Symptoms // Phenotype | % Cases |
---|---|
Short stature | Very Common - Between 80% and 100% cases |
Hypoplastic toenails | Very Common - Between 80% and 100% cases |
Postaxial hand polydactyly | Very Common - Between 80% and 100% cases |
Limb undergrowth | Very Common - Between 80% and 100% cases |
Nail dysplasia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with EVC gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Hypodontia
- Thoracic dysplasia
- Postaxial polydactyly
- Abnormal oral frenulum morphology
- Abnormality of the fingernails
- Nail dystrophy
- Mild short stature
- Polydactyly
And 94 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to EVC gene
Here you will find a list of rare diseases related to the EVC. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ACROFACIAL DYSOSTOSIS, WEYERS TYPE
Alternate names
ACROFACIAL DYSOSTOSIS, WEYERS TYPE Is also known as weyers acrodental dysostosis, acrodental dysostosis of weyers, weyers acrofacial dysostosis, curry-hall syndrome
Description
Acrofacialdysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome (see this term), an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner.
Most common symptoms of ACROFACIAL DYSOSTOSIS, WEYERS TYPE
- Seizures
- Short stature
- Brachydactyly
- Abnormality of the dentition
- Clinodactyly of the 5th finger
More info about ACROFACIAL DYSOSTOSIS, WEYERS TYPE
ELLIS VAN CREVELD SYNDROME
Alternate names
ELLIS VAN CREVELD SYNDROME Is also known as mesodermic dysplasia, mesoectodermal dysplasia, chondroectodermal dysplasia
Description
Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects.
Most common symptoms of ELLIS VAN CREVELD SYNDROME
- Intellectual disability
- Short stature
- Growth delay
- Failure to thrive
- Strabismus
More info about ELLIS VAN CREVELD SYNDROME
Search interest in EVC
Potential gene panels for EVC gene
Ciliopathies Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Ciliopathies that also includes the following genes: RPE65 RPGR SDCCAG8 TSC1 TSC2 CEP41 TULP1 USH1C USH2A CLRN1
More info about this panelHypospadias Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Hypospadias Sequencing Panel that also includes the following genes: SALL1 BMP4 SOX2 SRD5A2 HNF1B MED12 WNT7A WT1 FBXL4 ZEB2
More info about this panelFacial Dysostosis Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Facial Dysostosis Sequencing Panel that also includes the following genes: SF3B4 TCOF1 ALX1 EVC2 POLR1C POLR1D CHD7 DHODH ZSWIM6 EFTUD2
More info about this panelSkeletal Dysplasia Panel, Sequencing and Deletion/Duplication Panel
By ARUP Laboratories, Molecular Genetics and Genomics Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication that also includes the following genes: RUNX2 SLC26A2 SOX9 TRIP11 SERPINH1 TRPV4 FKBP10 WDR19 P3H1 EVC2
More info about this panelSkeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal Panel
By ARUP Laboratories, Molecular Genetics and Genomics Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal that also includes the following genes: RUNX2 SLC26A2 SOX9 TRIP11 SERPINH1 TRPV4 FKBP10 WDR19 P3H1 EVC2
More info about this panelEVC. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the EVC gene.
More info about this panelFGFR2, COMP, COL11A1, COL11A2, EVC, TRIP11, EVC2. NextGeneDx.Complete sequencing by NGS Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica FGFR2, COMP, COL11A1, COL11A2, EVC, TRIP11, EVC2. NextGeneDx.Complete sequencing by NGS that also includes the following genes: TRIP11 EVC2 COL11A1 COL11A2 COMP EVC FGFR2
More info about this panelCraniofacial Del/Dup Panel Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Del/Dup Panel that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1
More info about this panelCraniofacial Seq + Del/Dup Panel Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Seq + Del/Dup Panel that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1
More info about this panelCraniofacial Seq Analysis Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Seq Analysis that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1
More info about this panelEllis-Van Creveld Syndrome (sequence analysis of EVC gene) Panel
By CGC Genetics
This panel specifically test the EVC gene.
More info about this panelEllis Van Creveld syndrome (NGS panel for 12 genes) Panel
By CGC Genetics Ellis Van Creveld syndrome (NGS panel for 12 genes) that also includes the following genes: WDR19 EVC2 WDR60 TTC21B WDR34 IFT140 WDR35 IFT80 DYNC2H1 IFT172
More info about this panelShort-rib thoracic dysplasia, with or without polydactyly (NGS panel for 16 genes) Panel
By CGC Genetics Short-rib thoracic dysplasia, with or without polydactyly (NGS panel for 16 genes) that also includes the following genes: IFT122 WDR19 EVC2 WDR60 TTC21B CSPP1 CEP120 WDR34 IFT140 WDR35
More info about this panelEVC-Related Ellis-van Creveld Syndrome Panel
By Hehr Laboratory Center for Human Genetics - University of Regensburg
This panel specifically test the EVC gene.
More info about this panelHypospadias Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Hypospadias Sequencing Panel with CNV Detection that also includes the following genes: SALL1 BMP4 BMP7 SOX2 SRD5A2 HNF1B MED12 WNT7A WT1 FBXL4
More info about this panelEllis-van Creveld Syndrome (EVC) Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Ellis-van Creveld Syndrome (EVC) Sequencing Panel with CNV Detection that also includes the following genes: EVC2 EVC
More info about this panelShort Rib Skeletal Dysplasia Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Short Rib Skeletal Dysplasia Sequencing Panel with CNV Detection that also includes the following genes: SLC26A2 SOX9 IFT122 WDR19 EVC2 WDR60 TCTN3 TTC21B WDR34 IFT140
More info about this panelEllis-van Creveld Syndrome via EVC Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the EVC gene.
More info about this panelDisorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A SEMA3E BMP7 FOXL2 BRDT SOS1
More info about this panelDisorders of Sex Development (DSD) Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A BMP7 FOXL2 SOS1 SOX10 SOX2
More info about this panelSkeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel
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 panelEllis-van Creveld syndrome and Weyers acrofacial dysostosis Deletion / Duplication Panel Panel
By Connective Tissue Gene Tests Ellis-van Creveld syndrome and Weyers acrofacial dysostosis Deletion / Duplication Panel that also includes the following genes: EVC2 EVC
More info about this panelEllis-van Creveld syndrome and Weyers acrofacial dysostosis NGS Panel Panel
By Connective Tissue Gene Tests Ellis-van Creveld syndrome and Weyers acrofacial dysostosis NGS Panel that also includes the following genes: EVC2 EVC
More info about this panelEllis-van Creveld syndrome and Weyers acrofacial dysostosis Comprehensive Panel Panel
By Connective Tissue Gene Tests Ellis-van Creveld syndrome and Weyers acrofacial dysostosis Comprehensive Panel that also includes the following genes: EVC2 EVC
More info about this panelSkeletal dysplasia ciliopathy Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Skeletal dysplasia ciliopathy Deletion / Duplication panel that also includes the following genes: CFAP410 IFT122 IFT52 WDR19 EVC2 KIAA0586 WDR60 DYNC2LI1 TTC21B CEP120
More info about this panelSkeletal dysplasia ciliopathy NGS panel Panel
By Connective Tissue Gene Tests Skeletal dysplasia ciliopathy NGS panel that also includes the following genes: CFAP410 IFT122 IFT52 WDR19 EVC2 KIAA0586 WDR60 DYNC2LI1 TTC21B CEP120
More info about this panelSkeletal dysplasia ciliopathy Comprehensive panel Panel
By Connective Tissue Gene Tests Skeletal dysplasia ciliopathy Comprehensive panel that also includes the following genes: CFAP410 IFT122 IFT52 WDR19 EVC2 KIAA0586 WDR60 DYNC2LI1 TTC21B CEP120
More info about this panelSkeletal dysplasia and skeletal ciliopathy Comprehensive panel Panel
By Connective Tissue Gene Tests Skeletal dysplasia and skeletal ciliopathy Comprehensive panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CFAP410 NSDHL IFT122 IFT81 IFT52 TRPV4
More info about this panelSkeletal dysplasia and skeletal ciliopathy NGS panel Panel
By Connective Tissue Gene Tests Skeletal dysplasia and skeletal ciliopathy NGS panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CFAP410 NSDHL IFT122 IFT81 IFT52 TRPV4
More info about this panelSkeletal dysplasia and skeletal ciliopathy Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Skeletal dysplasia and skeletal ciliopathy Deletion / Duplication panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CFAP410 NSDHL IFT122 IFT81 IFT52 TRPV4
More info about this panelHereditary kidney disorders - different panels Panel
By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8
More info about this panelEVC-Related Ellis-van Creveld Syndrome Panel
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the EVC gene.
More info about this panelEllis-van Creveld syndrome Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the EVC gene.
More info about this panelCentoICU platinum plus Panel
By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panelNew Born testing (CentoICU) Panel
By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panelShort-rib dysplasia Panel Panel
By CeGaT GmbH Short-rib dysplasia Panel that also includes the following genes: IFT122 WDR19 EVC2 WDR60 TTC21B WDR34 IFT140 WDR35 IFT80 DYNC2H1
More info about this panelSkeletal Ciliopathies Panel
By Asper Biogene Asper Biogene LLC Skeletal Ciliopathies that also includes the following genes: IFT122 IFT52 WDR19 EVC2 KIAA0586 WDR60 COMP TCTN3 DYNC2LI1 TTC21B
More info about this panelCardiovascular Diseases_General Panel Panel
By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B
More info about this panelCongenital heart diseases Panel Panel
By Health in Code Congenital heart diseases Panel that also includes the following genes: BRAF SOS1 TBX1 TBX20 TBX5 TFAP2B TNNI3 MED12 ZIC3 ACTA2
More info about this panelInvitae Ciliopathies Panel Panel
By Invitae Invitae Ciliopathies Panel that also includes the following genes: RPGR SDCCAG8 SPAG1 CEP41 RSPH1 CFAP298 ARL6 NEK8 IFT122 TMEM237
More info about this panelInvitae Ellis-van Creveld and Weyers Acrofacial Dysostosis Panel Panel
By Invitae Invitae Ellis-van Creveld and Weyers Acrofacial Dysostosis Panel that also includes the following genes: EVC2 EVC
More info about this panelInvitae Skeletal Ciliopathies Panel Panel
By Invitae Invitae Skeletal Ciliopathies Panel that also includes the following genes: IFT122 WDR19 EVC2 KIAA0586 WDR60 TCTN3 TTC21B CSPP1 CEP120 WDR34
More info about this panelEllis-van Creveld syndrome: EVC gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the EVC gene.
More info about this panelSkeletal dysplasias Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Skeletal dysplasias that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CCN6 NSDHL TRPV4 SBDS EVC2 SLC35D1
More info about this panelCiliopathies: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Ciliopathies: Sequencing Panel that also includes the following genes: RPE65 RPGR ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 TSC1 TSC2 CEP41
More info about this panelDisproportionate Short Stature: Sequencing Panel Panel
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 panelSkeletal Dysplasia: Sequencing Panel Panel
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 panelCiliopathies: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Ciliopathies: Deletion/Duplication Panel that also includes the following genes: RPE65 RPGR ATXN10 SDCCAG8 TSC1 TSC2 TULP1 UMOD USH1C USH2A
More info about this panelDisproportionate Short Stature: Deletion/Duplication Panel Panel
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 panelCiliopathies NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Ciliopathies NGS Panel that also includes the following genes: RPE65 RPGR ATXN10 SDCCAG8 TULP1 UMOD USH1C USH2A CLRN1 VHL
More info about this panelCongenital Hepatic Fibrosis NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Congenital Hepatic Fibrosis NGS Panel that also includes the following genes: ARL6 NEK8 TRIM32 INVS BBS7 NPHP4 EVC2 TTC8 AHI1 ARL13B
More info about this panelEllis-Van Creveld Syndrome NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Ellis-Van Creveld Syndrome NGS Panel that also includes the following genes: EVC2 EVC
More info about this panelSkeletal Dysplasias NGS panel Panel
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 panelEVC Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the EVC gene.
More info about this panelEctodermal Dysplasia Panel Panel
By Blueprint Genetics Ectodermal Dysplasia Panel that also includes the following genes: RMRP BCS1L IFT122 WNT10A EDARADD TP63 MPLKIP CDH3 PORCN EVC2
More info about this panelFacial Dysostosis and Related Disorders Panel Panel
By Blueprint Genetics Facial Dysostosis and Related Disorders Panel that also includes the following genes: SF3B4 SMC1A TCOF1 TWIST1 UBE2A HDAC8 SRCAP EVC2 POLR1C POLR1D
More info about this panelShort Rib Dysplasia / Asphyxiating Thoracic Dysplasia Panel Panel
By Blueprint Genetics Short Rib Dysplasia / Asphyxiating Thoracic Dysplasia Panel that also includes the following genes: IFT122 WDR19 EVC2 WDR60 TCTN3 TTC21B CSPP1 WDR34 IFT140 WDR35
More info about this panelSkeletal Dysplasias Core Panel Panel
By Blueprint Genetics Skeletal Dysplasias Core Panel that also includes the following genes: RMRP ROR2 RUNX2 BMP1 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TCIRG1
More info about this panelComprehensive Skeletal Dysplasias and Disorders Panel Panel
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 panelCiliopathy Panel Panel
By Blueprint Genetics Ciliopathy Panel that also includes the following genes: SDCCAG8 CEP41 CFAP410 USP9X ZIC3 ARL6 NEK8 IFT122 IFT81 TMEM237
More info about this panelComprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel
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 panelCombined Skeletal Dysplasia/Osteogenesis Imperfecta Panel Panel
By Insight Medical Genetics Combined Skeletal Dysplasia/Osteogenesis Imperfecta Panel that also includes the following genes: ROR2 BMP1 SLC26A2 SOX9 TWIST1 WNT1 SERPINH1 IFITM5 SP7 FKBP10
More info about this panelEllis-van Creveld syndrome Panel
By Bioarray
This panel specifically test the EVC gene.
More info about this panelELLIS-VAN CREVELD SYNDROME Panel
By Laboratorio de Genetica Clinica SL ELLIS-VAN CREVELD SYNDROME that also includes the following genes: EVC2 EVC
More info about this panelJEUNE SYNDROME (ASPHYXIATING THORACIC DYSTROPHY) NGS PANEL Panel
By Laboratorio de Genetica Clinica SL JEUNE SYNDROME (ASPHYXIATING THORACIC DYSTROPHY) NGS PANEL that also includes the following genes: IFT122 WDR19 EVC2 WDR60 TCTN3 TTC21B CSPP1 CEP120 WDR34 IFT140
More info about this panelSKELETAL DYSPLASIA NGS PANEL Panel
By Laboratorio de Genetica Clinica SL SKELETAL DYSPLASIA NGS PANEL that also includes the following genes: SLC26A2 SOX9 TRIP11 TRPV4 EVC2 SLC35D1 COL10A1 COL11A1 COL11A2 COL1A2
More info about this panelEllis-Van Creveld Syndrome, Sequencing EVC Gene Panel
By Reference Laboratory Genetics
This panel specifically test the EVC gene.
More info about this panelFacial Dysostosis Related Disorders , Panel Massive Sequencing (NGS) 10 Genes Panel
By Reference Laboratory Genetics Facial Dysostosis Related Disorders , Panel Massive Sequencing (NGS) 10 Genes that also includes the following genes: SF3B4 TCOF1 POLR1C POLR1D CHD7 MIR17HG DHODH EFTUD2 EVC MYCN
More info about this panelEllis-Van Creveld Syndrome , Panel Massive Sequencing (NGS) 6 Genes Panel
By Reference Laboratory Genetics Ellis-Van Creveld Syndrome , Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: EVC2 WDR35 IFT80 DYNC2H1 EVC GLI2
More info about this panelSkeletal Dysplasias , Panel Massive Sequencing (NGS) 36 Genes Panel
By Reference Laboratory Genetics Skeletal Dysplasias , Panel Massive Sequencing (NGS) 36 Genes that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CCN6 NSDHL TRPV4 SBDS EVC2 SLC35D1
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