SLC6A4 gene related symptoms and diseases

All the information presented here about the SLC6A4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM, 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 SLC6A4 gene

Symptoms // Phenotype	% Cases
Depressivity	Common - Between 50% and 80% cases
Anxiety	Common - Between 50% and 80% cases
Collectionism	Uncommon - Between 30% and 50% cases
Tics	Uncommon - Between 30% and 50% cases
Obsessive-compulsive behavior	Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with SLC6A4 gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases
Apneic episodes in infancy
Hypercapnia
Glutaric acidemia
Microvesicular hepatic steatosis
Bronchiolitis
Hypoxemia
Malignant hyperthermia
Bronchitis

And 15 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to SLC6A4 gene

Here you will find a list of rare diseases related to the SLC6A4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

ANXIETY

Description

Human personality is shaped by genetic and environmental factors, and evidence suggests that the genetic component is highly complex, polygenic, and epistatic. Genetic factors are thought to contribute to 40 to 60% of trait variance. Molecular genetics has tried to identify specific genes for quantitative traits, called quantitative trait loci (QTLs). The QTL concept suggests that complex personality traits or dimensions are not attributable to single genes, but to multiple interacting genes (Reif and Lesch, 2003).Fullerton et al. (2003) stated that psychologists were in agreement that the wide variation in human personalities can be explained by a small number of personality factors, including neuroticism (a measure of emotional stability), which manifests at one extreme as anxiety, depression, moodiness, low self-esteem, and diffidence. They cited a number of studies that had described a relationship between high scores on measures of neuroticism and major depressive disorder. They also noted that theoretical studies had suggested that large samples of randomly ascertained sibs could be used to ascertain phenotypically extreme individuals and thereby increase power to detect genetic linkage in complex traits.See also panic disorder (PAND1 ), which is a subtype of anxiety disorder.

Most common symptoms of ANXIETY

Depressivity
Anxiety
Shyness

More info about ANXIETY

SOURCES: OMIM

SUDDEN INFANT DEATH SYNDROME

Alternate names

SUDDEN INFANT DEATH SYNDROME Is also known as sids

Description

Sudden infant death syndrome (SIDS) is a diagnosis of exclusion which should be made only after a thorough autopsy without identification of a specific cause of death (Mage and Donner, 2004).Weese-Mayer et al. (2007) provided a detailed review of genetic factors that have been implicated in SIDS. The authors concluded that SIDS represents more than 1 entity and has a heterogeneous etiology most likely involving several different genetically controlled metabolic pathways.

Most common symptoms of SUDDEN INFANT DEATH SYNDROME

Fever
Respiratory distress
Abnormal heart morphology
Pneumonia
Acidosis

More info about SUDDEN INFANT DEATH SYNDROME

SOURCES: OMIM MESH

OBSESSIVE-COMPULSIVE DISORDER; OCD

Description

Obsessive-compulsive disorder (OCD) is characterized by recurring obsessions and/or compulsions and has been estimated to affect nearly 5 million people in the United States (Karno et al., 1988). Evidence for a strong genetic component in OCD comes from twin studies, family genetics studies, and segregation analyses, as reviewed by Alsobrook et al. (2002).Zhang et al. (2002) suggested that hoarding is likely to be an evolutionarily conserved trait that, in times of adversity, was associated with increased survival and reproductive fitness. However, extreme forms of this trait are associated with marked disability and poor response to treatment (Black et al., 1998; Mataix-Cols et al., 1999).

Most common symptoms of OBSESSIVE-COMPULSIVE DISORDER; OCD

Depressivity
Anxiety
Obsessive-compulsive behavior
Tics
Collectionism

More info about OBSESSIVE-COMPULSIVE DISORDER; OCD

SOURCES: MESH OMIM

Search interest in SLC6A4

Potential gene panels for SLC6A4 gene

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

SLC6A4 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to SLC6A4 gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rare diseases associated to SLC6A4 gene

ANXIETY

Description

Most common symptoms of ANXIETY

SUDDEN INFANT DEATH SYNDROME

Alternate names

Description

Most common symptoms of SUDDEN INFANT DEATH SYNDROME

OBSESSIVE-COMPULSIVE DISORDER; OCD

Description

Most common symptoms of OBSESSIVE-COMPULSIVE DISORDER; OCD

Search interest in SLC6A4

Potential gene panels for SLC6A4 gene

Autism/Intellectual Disability/Multiple Anomalies Panel

Autism Spectrum Disorders Panel

Autism Panel

Autism NGS Panel Panel

Intellectual Disability NGS Panel Panel

Serotonin Metabolism Deficiency NGS Panel Panel

SLC6A4 Panel

SLC6A4 Panel

YouScript Psychotropic Panel

GeneSight Psychotropic Panel

Mental Health DNA Insight Panel

Genecept Assay™ Panel

OneOme RightMed comprehensive test Panel

SLC6A4 genotyping Panel

Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes Panel

Cardiology Genetic Panel (Full) , Panel Massive Sequencing (NGS) 96 Genes Panel

Citalopram response Panel

Escitalopram response Panel

Tempus xO assay Panel