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.

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.

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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


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.

More info about this panel

CHRNA7 Deletion/Duplication Analysis (Prenatal Diagnosis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the CHRNA7 gene.

More info about this panel

CHRNA7 Sequence Analysis (Familial Mutation/Variant Analysis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the CHRNA7 gene.

More info about this panel

CHRNA7 Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the CHRNA7 gene.

More info about this panel

CHRNA7 Sequence Analysis (Prenatal Diagnosis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the CHRNA7 gene.

More info about this panel

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

United States.

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN9A ST3GAL5 SLC2A1 SLC35A2 SLC6A1

More info about this panel

Epilepsy Advanced Sequencing and CNV Evaluation Panel

United States.

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5

More info about this panel

Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability Panel

United States.

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability that also includes the following genes: SLC35A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SNAP25 CDKL5 SYN1 SYP

More info about this panel

Epilepsy Panel - Comprehensive Panel

Argentina.

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" Epilepsy Panel - Comprehensive that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 SLC6A8 SLC9A6 SPTAN1 CDKL5

More info about this panel

Comprehensive Epilepsy Panel Panel

United States.

By GeneDx Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SLC2A1 SLC9A6 SPTAN1 CDKL5 STXBP1 SYN1

More info about this panel

Infantile Epilepsy Panel Panel

United States.

By GeneDx Infantile Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SLC2A1 SLC9A6 SPTAN1 CDKL5 STXBP1 TCF4

More info about this panel

Childhood-Onset Epilepsy Panel Panel

United States.

By GeneDx Childhood-Onset Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SLC2A1 SLC9A6 CDKL5 SYN1 TCF4 UBE3A CNTNAP2

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

DRAVET, SYNDROME & MIOCLONIC EPILEPSY Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases DRAVET, SYNDROME & MIOCLONIC EPILEPSY that also includes the following genes: SCN1A SCN1B SCN2A SCN9A CACNB4 PCDH19 EFHC1 CHRNA7 NHLRC1 EPM2A

More info about this panel

Early-Onset Epileptic Encephalopathy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Early-Onset Epileptic Encephalopathy NGS Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC25A12

More info about this panel

Comprehensive Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B

More info about this panel


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