CHRNA7 gene related symptoms and diseases

All the information presented here about the CHRNA7 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,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 CHRNA7 gene

Symptoms // Phenotype	% Cases
Fever	Very Common - Between 80% and 100% cases
Venous thrombosis	Very Common - Between 80% and 100% cases
Hypercapnia	Very Common - Between 80% and 100% cases
Glutaric acidemia	Very Common - Between 80% and 100% cases
Microvesicular hepatic steatosis	Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CHRNA7 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Bronchiolitis
Hypoxemia
Malignant hyperthermia
Bronchitis
Prolonged QT interval
Shock
Respiratory distress
Coma

And 8 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to CHRNA7 gene

Here you will find a list of rare diseases related to the CHRNA7. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

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

Search interest in CHRNA7

Potential gene panels for CHRNA7 gene

CHRNA7 Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the CHRNA7 gene.

CHRNA7 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to CHRNA7 gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Rare diseases associated to CHRNA7 gene

SUDDEN INFANT DEATH SYNDROME

Alternate names

Description

Most common symptoms of SUDDEN INFANT DEATH SYNDROME

Search interest in CHRNA7

Potential gene panels for CHRNA7 gene

CHRNA7 Deletion/Duplication Analysis Panel

CHRNA7 Deletion/Duplication Analysis (Prenatal Diagnosis) Panel

CHRNA7 Sequence Analysis (Familial Mutation/Variant Analysis) Panel

CHRNA7 Sequence Analysis Panel

CHRNA7 Sequence Analysis (Prenatal Diagnosis) Panel

Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies Panel

Epilepsy Advanced Sequencing and CNV Evaluation Panel

Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability Panel

Epilepsy Panel - Comprehensive Panel

Comprehensive Epilepsy Panel Panel

Infantile Epilepsy Panel Panel

Childhood-Onset Epilepsy Panel Panel

Mental Retardation and Dysmorphology - panels Panel

Syndromal Diseases - panels Panel

DRAVET, SYNDROME & MIOCLONIC EPILEPSY Panel

Early-Onset Epileptic Encephalopathy NGS Panel Panel

Comprehensive Epilepsy NGS Panel Panel