HDAC8 gene related symptoms and diseases
All the information presented here about the HDAC8 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to HDAC8 gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Very Common - Between 80% and 100% cases |
Seizures | Very Common - Between 80% and 100% cases |
Short stature | Very Common - Between 80% and 100% cases |
Microcephaly | Very Common - Between 80% and 100% cases |
Truncal obesity | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with HDAC8 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Brachycephaly
- Micrognathia
- Short foot
- Small hand
- Cryptorchidism
- Downturned corners of mouth
- Thick eyebrow
- Thin vermilion border
And 135 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to HDAC8 gene
Here you will find a list of rare diseases related to the HDAC8. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CORNELIA DE LANGE SYNDROME
Alternate names
CORNELIA DE LANGE SYNDROME Is also known as brachmann-de lange syndrome
Description
Cornelia de Lange syndrome (CdLS) is a multisystem disorder with variable expression marked by a characteristic facial dysmorphism, variable degrees of intellectual deficit, severe growth retardation beginning before birth (2nd trimester), abnormal hands and feet (oligodactyly, or sometimes an even more severe amputation, and constant brachymetacarpia of the first metacarpus), and various other malformations (heart, kidney etc.).
Most common symptoms of CORNELIA DE LANGE SYNDROME
- Intellectual disability
- Seizures
- Short stature
- Microcephaly
- Nystagmus
SOURCES: ORPHANET
WILSON-TURNER SYNDROME
Alternate names
WILSON-TURNER SYNDROME Is also known as wts, mental retardation, x-linked, with gynecomastia and obesity, mrxs6, mental retardation, x-linked, syndromic 6, x-linked intellectual disability-gynecomastia-obesity syndrome
Description
Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature.
Most common symptoms of WILSON-TURNER SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Microcephaly
CORNELIA DE LANGE SYNDROME 5; CDLS5
Description
Cornelia de Lange syndrome is a clinically heterogeneous developmental disorder characterized by malformations affecting multiple systems. Affected individuals have dysmorphic facial features, cleft palate, distal limb defects, growth retardation, and developmental delay. About 60% of patients have mutations in the NIPBL gene (OMIM ) on chromosome 5p13 (CDLS1 ), and about 4 to 6% of patients have mutations in the X-linked SMC1A gene (OMIM ) (CDLS2 ) (summary by Musio et al., 2006, Hoppman-Chaney et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see {122470}.
Most common symptoms of CORNELIA DE LANGE SYNDROME 5; CDLS5
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES: OMIM
Search interest in HDAC8
Potential gene panels for HDAC8 gene
PreSeek Non-invasive Prenatal Gene Sequencing Screen Panel
By Baylor Miraca Genetics Laboratories PreSeek Non-invasive Prenatal Gene Sequencing Screen that also includes the following genes: RIT1 BRAF SMC1A SOS1 SOS2 CDKL5 SYNGAP1 TSC1 TSC2 HDAC8
More info about this panelSyndromic Autism Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Syndromic Autism Panel that also includes the following genes: SCN1A SCN2A BRAF SLC2A1 SLC9A6 SMC1A KDM5C CDKL5 STXBP1 TBR1
More info about this panelNGS XLID Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS XLID Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panelCornelia de Lange Syndrome Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Cornelia de Lange Syndrome Panel that also includes the following genes: SMC1A HDAC8 SMC3 NIPBL RAD21
More info about this panelCoffin-Siris Syndrome Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Coffin-Siris Syndrome Panel that also includes the following genes: SMARCA2 SMARCA4 SMARCB1 SMARCE1 ARID1A SMC1A SOX11 BTD HDAC8 ADNP
More info about this panelCornelia de Lange Syndrome NGS panel Panel
By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet Cornelia de Lange Syndrome NGS panel that also includes the following genes: HDAC8 SMC3 NIPBL RAD21
More info about this panelCornelia de Lange Syndrome PLUS Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Cornelia de Lange Syndrome PLUS Sequencing Panel that also includes the following genes: ROR2 SMARCA2 SMARCA4 SMARCB1 SMARCE1 ARID1A SMC1A SOX11 WNT5A HDAC8
More info about this panelCornelia de Lange Syndrome Panel Panel
By Genetic Services Laboratory University of Chicago Cornelia de Lange Syndrome Panel that also includes the following genes: SMC1A HDAC8 SMC3 NIPBL RAD21
More info about this panelCdLS Tier 3 sequencing Panel
By Genetic Services Laboratory University of Chicago CdLS Tier 3 sequencing that also includes the following genes: HDAC8 SMC3 RAD21
More info about this panelCornelia de Lange PLUS Deletion/Duplication Panel Panel
By Genetic Services Laboratory University of Chicago Cornelia de Lange PLUS Deletion/Duplication Panel that also includes the following genes: ROR2 SMARCA2 SMARCA4 SMARCB1 SMARCE1 ARID1A SMC1A SOX11 WNT5A HDAC8
More info about this panelAutism/Intellectual Disability/Multiple Anomalies Panel
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Autism/Intellectual Disability/Multiple Anomalies that also includes the following genes: BDNF RPS6KA3 SCN1A BRAF SLC2A1 SLC6A4 SLC9A6 SMC1A KDM5C SOS1
More info about this panelAutismNext Panel
By Ambry Genetics AutismNext that also includes the following genes: SCN2A SLC6A8 SLC9A6 SMC1A CDKL5 SYNGAP1 TBR1 TCF4 MED12 TSC1
More info about this panelCdLSNext Panel
By Ambry Genetics CdLSNext that also includes the following genes: SMC1A HDAC8 SMC3 NIPBL RAD21
More info about this panelCustomNext: Neuro Panel
By Ambry Genetics CustomNext: Neuro that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2
More info about this panelNeurodevelopment-Expanded Panel
By Ambry Genetics Neurodevelopment-Expanded that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2
More info about this panelIDNext Panel
By Ambry Genetics IDNext that also includes the following genes: RPL10 RPS6KA3 SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC6A8 SLC9A6 SMARCA2
More info about this panelHDAC8 mutation analysis Panel
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam
This panel specifically test the HDAC8 gene.
More info about this panelHDAC8-Related Cornelia de Lange Syndrome Panel
By Unity of Clinical Genetics and Functional Genomics University of Zaragoza. Faculty of Medicine.
This panel specifically test the HDAC8 gene.
More info about this panelCornelia de Lange Seq Analysis Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Cornelia de Lange Seq Analysis that also includes the following genes: SMC1A HDAC8 ASXL1 ANKRD11 SMC3 NIPBL ASXL3 RAD21
More info about this panelCornelia de Lange Seq + Del/Dup Panel Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Cornelia de Lange Seq + Del/Dup Panel that also includes the following genes: SMC1A HDAC8 ASXL1 ANKRD11 SMC3 NIPBL ASXL3 RAD21
More info about this panelCornelia de Lange Del/Dup Panel Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Cornelia de Lange Del/Dup Panel that also includes the following genes: SMC1A HDAC8 ASXL1 ANKRD11 SMC3 NIPBL ASXL3 RAD21
More info about this panelCornelia de Lange syndrome 5 (sequence analysis of HDAC8 gene) Panel
By CGC Genetics
This panel specifically test the HDAC8 gene.
More info about this panelCornelia de Lange syndrome (NGS panel for 5 genes) Panel
By CGC Genetics Cornelia de Lange syndrome (NGS panel for 5 genes) that also includes the following genes: SMC1A HDAC8 SMC3 NIPBL RAD21
More info about this panelMental retardation, X-linked (NGS panel for 89 genes) Panel
By CGC Genetics Mental retardation, X-linked (NGS panel for 89 genes) that also includes the following genes: RPS6KA3 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panelCornelia de Lange syndrome 5 (deletion/duplication analysis on HDAC8 gene) Panel
By CGC Genetics
This panel specifically test the HDAC8 gene.
More info about this panelCornelia de Lange syndrome 5 (deletion/duplication analysis on HDAC8 gene) Panel
By CGC Genetics
This panel specifically test the HDAC8 gene.
More info about this panelCornelia de Lange Syndrome Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Cornelia de Lange Syndrome Sequencing Panel with CNV Detection that also includes the following genes: SMC1A HDAC8 AFF4 ANKRD11 SMC3 NIPBL RAD21
More info about this panelFacial Dysostosis Related Disorders Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Facial Dysostosis Related Disorders Sequencing Panel with CNV Detection that also includes the following genes: SF3B4 SMC1A TCF12 TCOF1 TWIST1 HDAC8 SRCAP POLR1C POLR1D CREBBP
More info about this panelCornelia de Lange Syndrome via HDAC8 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the HDAC8 gene.
More info about this panelX-Linked Intellectual Disability Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics X-Linked Intellectual Disability Sequencing Panel with CNV Detection that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC35A2 SLC6A8 SLC7A3 SLC9A6 SMC1A KDM5C SMS
More info about this panelCornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Disorders Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Disorders Sequencing Panel with CNV Detection that also includes the following genes: SMARCA4 SMARCB1 SMARCE1 ARID1A SMC1A SOX11 TAF1 TAF6 MED12 HDAC8
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 panelCornelia de Lange syndrome Comprehensive panel Panel
By Connective Tissue Gene Tests Cornelia de Lange syndrome Comprehensive panel that also includes the following genes: SMC1A HDAC8 AFF4 ANKRD11 SMC3 NIPBL RAD21
More info about this panelCornelia de Lange syndrome Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Cornelia de Lange syndrome Deletion / Duplication panel that also includes the following genes: SMC1A HDAC8 AFF4 ANKRD11 SMC3 NIPBL RAD21
More info about this panelCornelia de Lange syndrome NGS panel Panel
By Connective Tissue Gene Tests Cornelia de Lange syndrome NGS panel that also includes the following genes: SMC1A HDAC8 AFF4 ANKRD11 SMC3 NIPBL RAD21
More info about this panelMental retardation - different panels Panel
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panelCohesinopathies (Cornelia de Lange Syndrome) Panel
By MGZ Medical Genetics Center Cohesinopathies (Cornelia de Lange Syndrome) that also includes the following genes: SMC1A HDAC8 SMC3 NIPBL RAD21
More info about this panelMental Retardation and Dysmorphology - panels Panel
By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panelSyndromal Diseases - panels Panel
By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panelX-Linked Mental Retardation Panel
By MGZ Medical Genetics Center X-Linked Mental Retardation that also includes the following genes: RPL10 RPS6KA3 SLC12A6 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SOX3
More info about this panelBrain Malformations / Neuronal Migration Disorders Panel
By MGZ Medical Genetics Center Brain Malformations / Neuronal Migration Disorders that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A SGCE SGSH STIL SLC16A2
More info about this panelAllNeuro panel Panel
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panelCornelia de Lange syndrome 5 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the HDAC8 gene.
More info about this panelSingle gene testing HDAC8 Panel
By CeGaT GmbH
This panel specifically test the HDAC8 gene.
More info about this panelCornelia de Lange Syndrome Panel
By Asper Biogene Asper Biogene LLC Cornelia de Lange Syndrome that also includes the following genes: SMC1A TAF6 HDAC8 AFF4 ANKRD11 SMC3 NIPBL RAD21
More info about this panelAutism Spectrum Disorders Panel
By Asper Biogene Asper Biogene LLC Autism Spectrum Disorders that also includes the following genes: RPL10 SCN1A SCN2A BRAF SLC6A4 SLC6A8 CDKL5 MED12 TSC1 TSC2
More info about this panelInvitae Cornelia de Lange Syndrome Panel Panel
By Invitae Invitae Cornelia de Lange Syndrome Panel that also includes the following genes: SMC1A HDAC8 SMC3 NIPBL RAD21
More info about this panelCornelia de Lange syndrome Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Cornelia de Lange syndrome that also includes the following genes: SMC1A HDAC8 SMC3 NIPBL RAD21
More info about this panelCornelia de Lange Syndrome: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Cornelia de Lange Syndrome: Sequencing Panel that also includes the following genes: SMC1A HDAC8 SMC3 NIPBL RAD21
More info about this panelCornelia de Lange Syndrome: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Cornelia de Lange Syndrome: Deletion/Duplication Panel that also includes the following genes: SMC1A HDAC8 SMC3 NIPBL RAD21
More info about this panelIntellectual Disability NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panelXLID NGS Panel Panel
By Fulgent Genetics Fulgent Genetics XLID NGS Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panelCornelia De Lange Syndrome NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Cornelia De Lange Syndrome NGS Panel that also includes the following genes: SMC1A HDAC8 SMC3 NIPBL RAD21
More info about this panelHDAC8 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the HDAC8 gene.
More info about this panelX-chromosome High Resolution microarray analysis Panel
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center X-chromosome High Resolution microarray analysis that also includes the following genes: RP2 RPGR RPL10 RPS6KA3 RS1 SAT1 SH2D1A SHOX SLC16A2 SLC35A2
More info about this panelComprehensive Short Stature Syndrome Panel Panel
By Blueprint Genetics Comprehensive Short Stature Syndrome Panel that also includes the following genes: RIT1 BCS1L RRAS SHOX BRAF SMC1A SOS1 SOX2 SOX3 STAT5B
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 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 panelCornelia de Lange Syndrome Panel Panel
By Blueprint Genetics Cornelia de Lange Syndrome Panel that also includes the following genes: SMC1A HDAC8 SMC3 NIPBL RAD21
More info about this panelLimb Malformations Panel Panel
By Blueprint Genetics Limb Malformations Panel that also includes the following genes: SALL1 SF3B4 BRCA2 SMC1A TBX3 TBX5 WNT7A XRCC2 HDAC8 NSDHL
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 panelCornelia de Lange NGS and Deletion/Duplication Panel Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Cornelia de Lange NGS and Deletion/Duplication Panel that also includes the following genes: SMC1A HDAC8 SMC3 NIPBL RAD21
More info about this panelHDAC8 Gene Sequencing and Deletion/Duplication Analysis Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the HDAC8 gene.
More info about this panelCORNELIA DE LANGE SYNDROME (X-LINKED) Panel
By Laboratorio de Genetica Clinica SL CORNELIA DE LANGE SYNDROME (X-LINKED) that also includes the following genes: SMC1A HDAC8
More info about this panelCORNELIA DE LANGE SYNDROME: NGS PANEL Panel
By Laboratorio de Genetica Clinica SL CORNELIA DE LANGE SYNDROME: NGS PANEL that also includes the following genes: SMC1A HDAC8 SMC3 NIPBL RAD21
More info about this panelCornelia de Lange Syndrome , Panel massive Sequencing (NGS) 5 Genes Panel
By Reference Laboratory Genetics Cornelia de Lange Syndrome , Panel massive Sequencing (NGS) 5 Genes that also includes the following genes: SMC1A HDAC8 SMC3 NIPBL RAD21
More info about this panelTempus xO assay Panel
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
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