RPS6KA3 gene related symptoms and diseases

All the information presented here about the RPS6KA3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to RPS6KA3 gene

Symptoms // Phenotype % Cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with RPS6KA3 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Hypertelorism
  • Abnormal facial shape
  • Not very common - Between 30% and 50% cases

  • Kyphoscoliosis
  • Abnormality of the skeletal system
  • Intellectual disability, severe
  • Intellectual disability, mild
  • Kyphosis
  • Pectus excavatum

And 152 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to RPS6KA3 gene

Here you will find a list of rare diseases related to the RPS6KA3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


COFFIN-LOWRY SYNDROME


Alternate names

COFFIN-LOWRY SYNDROME Is also known as cls

Description

Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes.

Most common symptoms of COFFIN-LOWRY SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


More info about COFFIN-LOWRY SYNDROME

SOURCES: MESH OMIM ORPHANET

X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY


Alternate names

X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY Is also known as mrx, mrx18, mental retardation, x-linked 78, mrx78, mental retardation, x-linked 18

Description

Impaired mental functioning occurs as an isolated feature or as part of many syndromes listed in the X-linked catalog. Mental retardation that is not associated with other distinguishing features is referred to as 'nonspecific.' ClassificationOpitz and Sutherland (1984) reported on a conference in which fragile X mental retardation and X-linked mental retardation of numerous other types were discussed. The report contains a rather comprehensive discussion by Opitz of the nosology of X-linked mental retardation. Mulley et al. (1992) reviewed nomenclature guidelines for X-linked mental retardation.Raymond (2006) reviewed the diagnosis and classification of X-linked mental retardation and discussed the phenotypes associated with genes causing syndromic and nonsyndromic mental retardation.

Most common symptoms of X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


More info about X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY

SOURCES: MESH OMIM ORPHANET

MENTAL RETARDATION, X-LINKED 19; MRX19


Description

X-linked mental retardation-19 (MRX19) is a nonsyndromic form of mild to moderate mental retardation. Carrier females may be mildly affected. Mutation in the RPS6KA3 gene also causes Coffin-Lowry syndrome (CLS ), a mental retardation syndrome with dysmorphic facial features and skeletal anomalies. Some patients with RPS6KA3 mutations have an intermediate phenotype with mental retardation and only mild anomalies reminiscent of CLS. These individuals have mutations resulting in some residual protein function, which likely explains the milder phenotype (summary by Field et al., 2006).

Most common symptoms of MENTAL RETARDATION, X-LINKED 19; MRX19

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


More info about MENTAL RETARDATION, X-LINKED 19; MRX19

SOURCES: OMIM MESH

SYMPTOMATIC FORM OF COFFIN-LOWRY SYNDROME IN FEMALE CARRIERS


Most common symptoms of SYMPTOMATIC FORM OF COFFIN-LOWRY SYNDROME IN FEMALE CARRIERS

  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Muscular hypotonia


More info about SYMPTOMATIC FORM OF COFFIN-LOWRY SYNDROME IN FEMALE CARRIERS

SOURCES: ORPHANET


Potential gene panels for RPS6KA3 gene

NGS XLID Panel Panel

United States.

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 panel

Coffin-Lowry syndrome Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center

This panel specifically test the RPS6KA3 gene.

More info about this panel

Coffin-Lowry syndrome Panel

United States.

By Center for Human Genetics, Inc

This panel specifically test the RPS6KA3 gene.

More info about this panel

Hearing Loss Panel Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Hearing Loss Panel that also includes the following genes: RPS6KA3 SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SMPX SOX10 BTD

More info about this panel

X-Linked Intellectual Disabilities Deletion/Duplication Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University X-Linked Intellectual Disabilities Deletion/Duplication that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1

More info about this panel

X-linked Intellectual Disabilities Sequencing Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University X-linked Intellectual Disabilities Sequencing that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1

More info about this panel

X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1

More info about this panel

Non-Specific Intellectual Disability Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Non-Specific Intellectual Disability Panel that also includes the following genes: RPS6KA3 CLIP1 SCN2A ST3GAL3 SLC16A2 SLC25A1 SLC6A8 SLC9A6 SMARCA4 SMARCB1

More info about this panel

X-linked Non-Specific Intellectual Disability Panel Panel

United States.

By Genetic Services Laboratory University of Chicago X-linked Non-Specific Intellectual Disability Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS CDKL5 SYN1

More info about this panel

RSK2 (RPS6KA3) Select Exons Sequencing Panel

United States.

By GeneDx

This panel specifically test the RPS6KA3 gene.

More info about this panel

RSK2 (RPS6KA3) Remaining Exons Sequencing Panel

United States.

By GeneDx

This panel specifically test the RPS6KA3 gene.

More info about this panel

RSK2 (RPS6KA3) Gene Sequencing Panel

United States.

By GeneDx

This panel specifically test the RPS6KA3 gene.

More info about this panel

Autism/Intellectual Disability/Multiple Anomalies Panel

United States.

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 panel

CustomNext: Neuro Panel

United States.

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 panel

Neurodevelopment-Expanded Panel

United States.

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 panel

IDNext Panel

United States.

By Ambry Genetics IDNext that also includes the following genes: RPL10 RPS6KA3 SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC6A8 SLC9A6 SMARCA2

More info about this panel

RSK2. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the RPS6KA3 gene.

More info about this panel

Coffin-Lowry Syndrome (sequence analysis of RPS6KA3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the RPS6KA3 gene.

More info about this panel

Coffin-Lowry syndrome (deletion/duplication analysis of RPS6KA3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the RPS6KA3 gene.

More info about this panel

X-linked mental retardation (deletion/duplication analysis, multiple genes) Panel

Portugal.

By CGC Genetics X-linked mental retardation (deletion/duplication analysis, multiple genes) that also includes the following genes: RPS6KA3 SLC6A8 TSPAN7 ARX DCX HUWE1 AGTR2 ACSL4 FMR1 AFF2

More info about this panel

Mental retardation, X-linked (NGS panel for 89 genes) Panel

Portugal.

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 panel

COFFIN-LOWRY SYNDROME Panel

Belgium.

By Centre de Genetique Humaine Institut de Pathologie et de Genetique

This panel specifically test the RPS6KA3 gene.

More info about this panel

X-Linked Intellectual Disability Sequencing Panel with CNV Detection Panel

United States.

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 panel

Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection that also includes the following genes: BDNF RPS6KA3 SCN2A SCN8A SLC16A2 SLC2A1 SLC6A8 SLC9A6 SMC1A KDM5C

More info about this panel

Mental retardation - different panels Panel

Germany.

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 panel

Coffin-Lowry Syndrome Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the RPS6KA3 gene.

More info about this panel

Mental Retardation and Dysmorphology - panels Panel

Germany.

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 panel

Syndromal Diseases - panels Panel

Germany.

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 panel

X-Linked Mental Retardation Panel

Germany.

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 panel

Brain Malformations / Neuronal Migration Disorders Panel

Germany.

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 panel

Mental retardation, X-linked type 19 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the RPS6KA3 gene.

More info about this panel

Coffin-Lowry syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the RPS6KA3 gene.

More info about this panel

AllNeuro panel Panel

Germany.

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 panel

CentoICU platinum plus Panel

Germany.

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 panel

New Born testing (CentoICU) Panel

Germany.

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 panel

qCarrier Plus Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH

More info about this panel

Invitae Coffin-Lowry Syndrome Test Panel

United States.

By Invitae

This panel specifically test the RPS6KA3 gene.

More info about this panel

Coffin Lowry syndrome: RPS6KA3 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the RPS6KA3 gene.

More info about this panel

Coffin Lowry syndrome: deletions-duplications analysis (MLPA) RPS6KA3 gene Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the RPS6KA3 gene.

More info about this panel

Mental retardation, X-linked, non-syndromic Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Mental retardation, X-linked, non-syndromic that also includes the following genes: RPS6KA3 SLC6A8 KDM5C SYP TSPAN7 ZNF41 ZNF711 ZNF81 FTSJ1 NLGN4X

More info about this panel

Coffin-Lowry Syndrome: RPS6KA3 Gene Sequencing Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the RPS6KA3 gene.

More info about this panel

Coffin-Lowry Syndrome: RPS6KA3 Gene Deletion/Duplication Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the RPS6KA3 gene.

More info about this panel

Proportionate Short Stature/Small for Gestational Age: Sequencing and Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Proportionate Short Stature/Small for Gestational Age: Sequencing and Deletion/Duplication Panel that also includes the following genes: ROR2 RPS6KA3 BLM SHOX SHOX2 SMARCAL1 SMC1A SOS1 SOX2 SOX3

More info about this panel

X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1

More info about this panel

Hearing Loss: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hearing Loss: Sequencing Panel that also includes the following genes: RPS6KA3 SALL1 SIX1 SIX5 SMPX SOX10 BTD TCOF1 TECTA TIMM8A

More info about this panel

Hearing Loss: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hearing Loss: Deletion/Duplication Panel that also includes the following genes: RPS6KA3 SALL1 SIX1 SMPX BTD TECTA TIMM8A TJP2 TMPRSS3 USH1C

More info about this panel

Intellectual Disability NGS Panel Panel

United States.

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 panel

XLID NGS Panel Panel

United States.

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 panel

RPS6KA3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the RPS6KA3 gene.

More info about this panel

X-chromosome High Resolution microarray analysis Panel

United States.

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 panel

Comprehensive Hearing Loss and Deafness Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hearing Loss and Deafness Panel that also includes the following genes: BCS1L RPS6KA3 SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SMPX SOX10

More info about this panel

X-linked Intellectual Disability Panel Panel

Finland.

By Blueprint Genetics X-linked Intellectual Disability Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5

More info about this panel

Coffin-Lowry syndrome Panel

Spain.

By Bioarray

This panel specifically test the RPS6KA3 gene.

More info about this panel

COFFIN-LOWRY SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the RPS6KA3 gene.

More info about this panel

INTELLECTUAL DEFICIT (X-LINKED) Panel

Spain.

By Laboratorio de Genetica Clinica SL INTELLECTUAL DEFICIT (X-LINKED) that also includes the following genes: RPS6KA3 ARX MECP2

More info about this panel

Coffin-Lowry Syndrome, Sequencing RPS6KA3/RSK2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the RPS6KA3 gene.

More info about this panel

Coffin-Lowry Syndrome, Deletions-Duplications(MLPA) RPS6KA3/RSK2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the RPS6KA3 gene.

More info about this panel

Mental Retardation (Complete Panel) , Panel Massive Sequencing (NGS) 91 Genes Panel

Spain.

By Reference Laboratory Genetics Mental Retardation (Complete Panel) , Panel Massive Sequencing (NGS) 91 Genes that also includes the following genes: RPS6KA3 ST3GAL3 SLC6A8 SMARCA4 SMARCB1 ARID1A KDM5C STXBP1 SYNGAP1 SYP

More info about this panel

X-Linked Nonsyndromic Mental Retardation , Panel Massive Sequencing (NGS) 31 Genes Panel

Spain.

By Reference Laboratory Genetics X-Linked Nonsyndromic Mental Retardation , Panel Massive Sequencing (NGS) 31 Genes that also includes the following genes: RPS6KA3 SLC6A8 KDM5C SYP TSPAN7 ZNF41 ZNF711 ZNF81 FTSJ1 NLGN4X

More info about this panel

Coffin-Lowry syndrome Panel

Germany.

By Labor Dr. Wisplinghoff

This panel specifically test the RPS6KA3 gene.

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MEOX1 TUBB8 DLX5

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more