CACNA1H gene related symptoms and diseases
All the information presented here about the CACNA1H gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CACNA1H gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Seizures | Very Common - Between 80% and 100% cases |
| Febrile seizures | Common - Between 50% and 80% cases |
| Hypertension | Uncommon - Between 30% and 50% cases |
| Hyperaldosteronism | Uncommon - Between 30% and 50% cases |
| Decreased circulating renin level | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with CACNA1H gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Generalized tonic-clonic seizures
- Generalized myoclonic seizures
- Absence seizures
- EEG with polyspike wave complexes
- EEG with spike-wave complexes (>3.5 Hz)
Rare diseases associated to CACNA1H gene
Here you will find a list of rare diseases related to the CACNA1H. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6; ECA6
Description
Childhood absence epilepsy is a subtype of idiopathic generalized epilepsy. For a general phenotypic description and a discussion of genetic heterogeneity of childhood absence epilepsy and idiopathic generalized epilepsy, see ECA1 (OMIM ) and (OMIM ), respectively.
Most common symptoms of EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6; ECA6
- Seizures
- Febrile seizures
More info about EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6; ECA6
SOURCES: OMIM
HYPERALDOSTERONISM, FAMILIAL, TYPE IV; HALD4
Alternate names
HYPERALDOSTERONISM, FAMILIAL, TYPE IV; HALD4 Is also known as fh iv, aldosteronism, primary, and hypertension
Most common symptoms of HYPERALDOSTERONISM, FAMILIAL, TYPE IV; HALD4
- Seizures
- Hypertension
- Hyperaldosteronism
- Decreased circulating renin level
More info about HYPERALDOSTERONISM, FAMILIAL, TYPE IV; HALD4
SOURCES: OMIM
CHILDHOOD ABSENCE EPILEPSY
Alternate names
CHILDHOOD ABSENCE EPILEPSY Is also known as pyknolepsy
Description
Childhood absence epilepsy (CAE) is a familial generalized pediatric epilepsy, characterized by very frequent (multiple per day) absence seizures, usually occurring in children between the ages of 4 and 10 years, with, in most cases, a good prognosis.
Most common symptoms of CHILDHOOD ABSENCE EPILEPSY
- Seizures
- Generalized tonic-clonic seizures
- Generalized myoclonic seizures
- Febrile seizures
- Absence seizures
More info about CHILDHOOD ABSENCE EPILEPSY
Search interest in CACNA1H
Potential gene panels for CACNA1H gene
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 United States.
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 United States.
Autism Spectrum Disorders 53-Gene Panel Panel
United States.
By Center for Human Genetics, Inc Autism Spectrum Disorders 53-Gene Panel that also includes the following genes: RPL10 SYN1 SYNGAP1 TSPAN7 PCDH10 CNTNAP2 SH3KBP1 CACNA1H PCDH19 NLGN4X
More info about this panel United States.
Epilepsy, childhood absence type 6 (sequence analysis of CACNA1H gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the CACNA1H gene.
More info about this panel Portugal.
Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection that also includes the following genes: RORB SCN10A SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC17A5
More info about this panel United States.
Primary Aldosteronism Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Primary Aldosteronism Sequencing Panel with CNV Detection that also includes the following genes: CACNA1D CACNA1H KCNJ5
More info about this panel United States.
Primary Aldosteronism via CACNA1H Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the CACNA1H gene.
More info about this panel United States.
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.
Hereditary kidney disorders - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8
More info about this panel Germany.
Epilepsy, Childhood Absence, Susceptibility to, 6 Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the CACNA1H gene.
More info about this panel Germany.
Neurogenetic Disorders - panels Panel
Germany.
By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2
More info about this panel Germany.
Brain Malformations / Neuronal Migration Disorders Panel
Germany.
By MGZ Medical Genetics Center Brain Malformations / Neuronal Migration Disorders that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A SGCE SGSH STIL SLC16A2
More info about this panel Germany.
Epilepsy Panel
Germany.
By MGZ Medical Genetics Center Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panel Germany.
IGE/JME/CAE panel Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht IGE/JME/CAE panel that also includes the following genes: SLC2A1 BRD2 CACNA1H CACNB4 CASR EFHC1 CLCN2 GABRA1 GABRB3 GABRD
More info about this panel Netherlands.
Epilepsy, childhood absence type 6 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the CACNA1H 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.
Idiopathic Generalized and Focal Epilepsy Panel Panel
Germany.
By CeGaT GmbH Idiopathic Generalized and Focal Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC1A3 SLC2A1 CACNA1A CACNA1H CACNB4
More info about this panel Germany.
Childhood absence epilepsy Panel
Poland.
By Laboratory of Human Genetics GENOMED Health Care Center Childhood absence epilepsy that also includes the following genes: SLC2A1 CACNA1H GABRA1 GABRB3 GABRG2 JRK
More info about this panel Poland.
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.
EPILEPSY HEREDITARY PANEL Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases EPILEPSY HEREDITARY PANEL that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 CDKL5 STXBP1 CACNA1A CACNA1H
More info about this panel Spain.
Autism Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Autism that also includes the following genes: RPL10 SLC25A12 SLC6A4 UBE3A CNTNAP2 FOXP2 CACNA1C CACNA1F CACNA1H PCDH19
More info about this panel Spain.
Epilepsy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A
More info about this panel United States.
CACNA1H Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CACNA1H gene.
More info about this panel United States.
Idiopathic Generalized Epilepsy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Idiopathic Generalized Epilepsy NGS Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 SLC9A6 SMC1A KDM5C CDKL5
More info about this panel United States.
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 United States.
KidneySeq - 264 Genes Panel
United States.
By Iowa Institute of Human Genetics University of Iowa KidneySeq - 264 Genes that also includes the following genes: ROBO2 CNNM2 SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 BMP4 SEMA3E
More info about this panel United States.
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.
Idiopathic Generalized and Focal Epilepsy Panel Panel
Finland.
By Blueprint Genetics Idiopathic Generalized and Focal Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 SLC6A1 CACNA1H CACNB4 CASR
More info about this panel Finland.
Childhood Absence Epilepsy , Sequencing CACNA1H Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the CACNA1H gene.
More info about this panel Spain.
Familial Hyperaldosteronism Type IV, Sequencing CACNA1H Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the CACNA1H gene.
More info about this panel Spain.
Familial Epilepsy and Related Disorders , Panel Massive Sequencing (NGS) 34 Genes Panel
Spain.
By Reference Laboratory Genetics Familial Epilepsy and Related Disorders , Panel Massive Sequencing (NGS) 34 Genes that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 CDKL5 STXBP1 CACNA1A CACNA1H
More info about this panel Spain.
Cardiology Genetic Panel (Full) , Panel Massive Sequencing (NGS) 96 Genes Panel
Spain.
By Reference Laboratory Genetics Cardiology Genetic Panel (Full) , Panel Massive Sequencing (NGS) 96 Genes that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SGCD SLC25A3 SLC6A4 SNTA1 TAZ
More info about this panel Spain.
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