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.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

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.

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

Search interest in RPS6KA3

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

RPS6KA3 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to RPS6KA3 gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Not very common - Between 30% and 50% cases

Rare diseases associated to RPS6KA3 gene

COFFIN-LOWRY SYNDROME

Alternate names

Description

Most common symptoms of COFFIN-LOWRY SYNDROME

X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY

Alternate names

Description

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

MENTAL RETARDATION, X-LINKED 19; MRX19

Description

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

SYMPTOMATIC FORM OF COFFIN-LOWRY SYNDROME IN FEMALE CARRIERS

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

Search interest in RPS6KA3

Potential gene panels for RPS6KA3 gene

NGS XLID Panel Panel

Coffin-Lowry syndrome Panel

Coffin-Lowry syndrome Panel

Hearing Loss Panel Panel

X-Linked Intellectual Disabilities Deletion/Duplication Panel

X-linked Intellectual Disabilities Sequencing Panel

X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication Panel

Non-Specific Intellectual Disability Panel Panel

X-linked Non-Specific Intellectual Disability Panel Panel

RSK2 (RPS6KA3) Select Exons Sequencing Panel

RSK2 (RPS6KA3) Remaining Exons Sequencing Panel

RSK2 (RPS6KA3) Gene Sequencing Panel

Autism/Intellectual Disability/Multiple Anomalies Panel

CustomNext: Neuro Panel

Neurodevelopment-Expanded Panel

IDNext Panel

RSK2. Complete sequencing Panel

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

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

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

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

COFFIN-LOWRY SYNDROME Panel

X-Linked Intellectual Disability Sequencing Panel with CNV Detection Panel

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

Mental retardation - different panels Panel

Coffin-Lowry Syndrome Panel

Mental Retardation and Dysmorphology - panels Panel

Syndromal Diseases - panels Panel

X-Linked Mental Retardation Panel

Brain Malformations / Neuronal Migration Disorders Panel

Mental retardation, X-linked type 19 Panel

Coffin-Lowry syndrome Panel

AllNeuro panel Panel

CentoICU platinum plus Panel

New Born testing (CentoICU) Panel

qCarrier Plus Panel

Invitae Coffin-Lowry Syndrome Test Panel

Coffin Lowry syndrome: RPS6KA3 gene sequence analysis Panel

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

Mental retardation, X-linked, non-syndromic Panel

Coffin-Lowry Syndrome: RPS6KA3 Gene Sequencing Panel

Coffin-Lowry Syndrome: RPS6KA3 Gene Deletion/Duplication Panel

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

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

Hearing Loss: Sequencing Panel Panel

Hearing Loss: Deletion/Duplication Panel Panel

Intellectual Disability NGS Panel Panel

XLID NGS Panel Panel

RPS6KA3 Panel

X-chromosome High Resolution microarray analysis Panel

Comprehensive Hearing Loss and Deafness Panel Panel

X-linked Intellectual Disability Panel Panel

Coffin-Lowry syndrome Panel

COFFIN-LOWRY SYNDROME Panel

INTELLECTUAL DEFICIT (X-LINKED) Panel

Coffin-Lowry Syndrome, Sequencing RPS6KA3/RSK2 Gene Panel

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

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

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