CERS1 gene related symptoms and diseases

All the information presented here about the CERS1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CERS1 gene

Symptoms // Phenotype % Cases
Ventricular septal defect Common - Between 50% and 80% cases
Pulmonary artery atresia Common - Between 50% and 80% cases
Abnormality of cardiovascular system morphology Common - Between 50% and 80% cases
Pulmonic stenosis Common - Between 50% and 80% cases
Abnormal heart morphology Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with CERS1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Growth delay
  • Abnormal cardiac septum morphology
  • Complete atrioventricular canal defect
  • Anomalous pulmonary venous return
  • Heterotaxy
  • Double outlet right ventricle
  • Total anomalous pulmonary venous return
  • Single ventricle

And 78 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to CERS1 gene

Here you will find a list of rare diseases related to the CERS1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


TETRALOGY OF FALLOT

Description

Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.

Most common symptoms of TETRALOGY OF FALLOT

  • Growth delay
  • Muscle weakness
  • Cryptorchidism
  • Anemia
  • Brachydactyly


More info about TETRALOGY OF FALLOT

SOURCES: OMIM MESH ORPHANET

CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6; CHTD6

Alternate names

CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6; CHTD6 Is also known as transposition of the great arteries, dextro-looped 3, formerly, dtga3, formerly

Description

Multiple types of congenital heart defects are associated with mutation in the GDF1 gene, including tetralogy of fallot (TOF), transposition of the great arteries (TGA), double-outlet right ventricle (DORV), total anomalous pulmonary venous return (TAPVR), pulmonary stenosis or atresia, atrioventricular canal, ventricular septal defect (VSD), and hypoplastic left or right ventricle (Jin et al., 2017).For a discussion of genetic heterogeneity of multiple types of congenital heart defects, see {306955}.

Most common symptoms of CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6; CHTD6

  • Ventricular septal defect
  • Atrial septal defect
  • Abnormality of cardiovascular system morphology
  • Hernia
  • Abnormal heart morphology


More info about CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6; CHTD6

SOURCES: OMIM

IVEMARK SYNDROME

Alternate names

IVEMARK SYNDROME Is also known as ivemark syndrome, asplenia with cardiovascular anomalies, right isomerism

Description

Right atrial isomerism is a severe complex congenital heart defect resulting from embryonic disruption of proper left-right axis determination. RAI is usually characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries. Affected individuals present at birth with severe cardiac failure. Other associated abnormalities include bilateral trilobed lungs, midline liver, and asplenia, as well as situs inversus affecting other organs. Left atrial isomerism (LAI) is a related disorder with a somewhat better prognosis. LAI is characterized by bilateral superior vena cava, interruption of the intrahepatic portion of the inferior vena cava, partial anomalous pulmonary venous drainage, and ventricular septal defect. Patients with LAI may have polysplenia and bilateral bilobed lungs, as well as situs inversus affecting other organs. Both RAI and LAI malformation complexes have classically been referred to as Ivemark syndrome (summary by Eronen et al., 2004 and Kaasinen et al., 2010).

Most common symptoms of IVEMARK SYNDROME

  • Growth delay
  • Hypertelorism
  • Low-set ears
  • Flexion contracture
  • Intrauterine growth retardation


More info about IVEMARK SYNDROME

SOURCES: OMIM ORPHANET

PROGRESSIVE MYOCLONIC EPILEPSY TYPE 8

Alternate names

PROGRESSIVE MYOCLONIC EPILEPSY TYPE 8 Is also known as epm8, pme type 8, progressive myoclonic epilepsy due to cers1 deficiency, progressive myoclonus epilepsy type 8

Description

A rare, genetic, neurological disorder characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures, and slowly progressive, moderate to severe cognitive impairment that may lead to dementia. EEG reveals progressive slowing of background activity and epileptic abnormalities and brain MRI shows cerebellar and brainstem atrophy.

Most common symptoms of PROGRESSIVE MYOCLONIC EPILEPSY TYPE 8

  • Intellectual disability
  • Seizures
  • Cognitive impairment
  • Dementia
  • Myoclonus


More info about PROGRESSIVE MYOCLONIC EPILEPSY TYPE 8

SOURCES: ORPHANET OMIM


Potential gene panels for CERS1 gene

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
Argentina.

Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Epilepsy and Seizure Plus Sequencing Panel with CNV Detection that also includes the following genes: RORB RYR3 SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SGCE

More info about this panel
United States.

Progressive myoclonus epilepsy type 8 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CERS1 gene.

More info about this panel
Germany.

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
Germany.

Epilepsy Panel

Estonia.

By Asper Biogene Asper Biogene LLC Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 ST3GAL5 SLC35A2 SLC35A3 SLC6A1 SLC6A8

More info about this panel
Estonia.

NCL and Progressive Myoclonic Epilepsy Panel Panel

Finland.

By Blueprint Genetics NCL and Progressive Myoclonic Epilepsy Panel that also includes the following genes: CERS1 DNAJC5 SCARB2 PRICKLE1 TPP1 CLN3 CLN5 CLN6 CLN8 FARS2

More info about this panel
Finland.

Comprehensive Epilepsy Panel Panel

Finland.

By Blueprint Genetics Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SCO1 AIMP1 ST3GAL3 ST3GAL5 SLC25A1

More info about this panel
Finland.

PROGRESSIVE MYOCLONIC EPILEPSY/GEFs+ NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL PROGRESSIVE MYOCLONIC EPILEPSY/GEFs+ NGS PANEL that also includes the following genes: SCN1A SCN1B SCN2A SCN9A SGCE SLC6A1 STXBP1 CACNB4 CERS1 PCDH19

More info about this panel
Spain.

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