GPHN gene related symptoms and diseases
All the information presented here about the GPHN gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to GPHN gene
Symptoms // Phenotype | % Cases |
---|---|
Seizures | Very Common - Between 80% and 100% cases |
Hyperreflexia | Very Common - Between 80% and 100% cases |
Hypertonia | Very Common - Between 80% and 100% cases |
Cerebellar hypoplasia | Uncommon - Between 30% and 50% cases |
Hypokinesia | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with GPHN gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Atonic seizures
- Hiatus hernia
- Esophagitis
- Myokymia
- Exaggerated startle response
- Nocturnal seizures
- Global developmental delay
- Generalized hypotonia
And 44 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to GPHN gene
Here you will find a list of rare diseases related to the GPHN. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
HEREDITARY HYPEREKPLEXIA
Alternate names
HEREDITARY HYPEREKPLEXIA Is also known as hereditary hyperexplexia, familial startle disease, kok disease, startle disease, familial, stiff baby syndrome, exaggerated startle reaction, sthe, congenital stiff man syndrome, stiff-baby syndrome, stiff-person syndrome, congenital, startle reaction, exaggerated
Description
Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.
Most common symptoms of HEREDITARY HYPEREKPLEXIA
- Intellectual disability
- Seizures
- Ataxia
- Spasticity
- Hyperreflexia
More info about HEREDITARY HYPEREKPLEXIA
SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE C
Alternate names
SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE C Is also known as mocod type c, combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type c
Most common symptoms of SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE C
- Seizures
- Global developmental delay
- Generalized hypotonia
- Feeding difficulties
- Hyperreflexia
More info about SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE C
Search interest in GPHN
Potential gene panels for GPHN gene
Molybdenum cofactor deficiency C (sequence analysis of GPHN gene) Panel
By CGC Genetics
This panel specifically test the GPHN gene.
More info about this panelHyperekplexia (NGS panel for 7 genes) Panel
By CGC Genetics Hyperekplexia (NGS panel for 7 genes) that also includes the following genes: SLC6A5 ARHGEF9 GPHN FKTN GLRA1 GLRB ASNS
More info about this panelMolybdenum Cofactor Deficiency via GPHN Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the GPHN gene.
More info about this panelEpilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel
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 panelMolybdenum cofactor deficiency, type C Panel
By Institute of Human Genetics Uniklinik RWTH Aachen
This panel specifically test the GPHN gene.
More info about this panelMental retardation - different panels Panel
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panelNeurogenetic Disorders - panels Panel
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 panelEpileptic Encephalopathy Panel
By MGZ Medical Genetics Center Epileptic Encephalopathy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SGCE SLC2A1 SPTAN1 CDKL5 STXBP1 SYNGAP1
More info about this panelEpilepsy and Mitochondrial Encephalopathy Panel
By MGZ Medical Genetics Center Epilepsy and Mitochondrial Encephalopathy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panelHyperekplexia Panel
By MGZ Medical Genetics Center Hyperekplexia that also includes the following genes: SLC6A5 ARHGEF9 GPHN GLRA1 GLRB
More info about this panelEpilepsy Panel
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 panelMolybdenum cofactor deficiency, type C (GPHN) Panel
By VU University Medical Center Metabolic Unit, PX 1X 009
This panel specifically test the GPHN gene.
More info about this panelMetabolic disease with epilepsy panel Panel
By Genome Diagnostics Laboratory University Medical Center Utrecht Metabolic disease with epilepsy panel that also includes the following genes: SLC2A1 GPHN DNAJC5 TPP1 CLN3 CLN5 CLN6 CLN8 CPT2 CTSD
More info about this panelHyperekplexia panel Panel
By Centogene AG - the Rare Disease Company Hyperekplexia panel that also includes the following genes: SLC6A2 ARHGEF9 GPHN GLRA1 GLRB
More info about this panelHyperekplexia Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the GPHN gene.
More info about this panelCentoICU platinum plus Panel
By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panelNew Born testing (CentoICU) Panel
By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panelEpileptic Encephalopathy Panel Panel
By CeGaT GmbH Epileptic Encephalopathy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 ST3GAL5 SLC2A1 SLC35A2 SLC9A6 SPTAN1
More info about this panelHyperekplexia Panel Panel
By CeGaT GmbH Hyperekplexia Panel that also includes the following genes: SLC6A5 ARHGEF9 GPHN GLRA1 GLRB
More info about this panelMetabolic Epilepsy Panel Panel
By CeGaT GmbH Metabolic Epilepsy Panel that also includes the following genes: SLC25A15 BTD SUOX GPHN ACY1 L2HGDH GNE ADSL DPYD PNPO
More info about this panelMolybdenum Cofactor Deficiency Panel Panel
By CeGaT GmbH Molybdenum Cofactor Deficiency Panel that also includes the following genes: GPHN MOCS1 MOCS2
More info about this panelSingle gene testing GPHN Panel
By CeGaT GmbH
This panel specifically test the GPHN gene.
More info about this panelEpilepsy Panel
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 panelInvitae Hereditary Hyperekplexia Panel Panel
By Invitae Invitae Hereditary Hyperekplexia Panel that also includes the following genes: SLC6A5 ARHGEF9 GPHN CLPB GLRA1 GLRB
More info about this panelInvitae Neurotransmitter Disorders Panel Panel
By Invitae Invitae Neurotransmitter Disorders Panel that also includes the following genes: SLC6A3 SLC6A5 SPR TH ARHGEF9 GPHN PSAT1 SLC25A22 ABAT DBH
More info about this panelInvitae Purine Metabolism Disorders Panel Panel
By Invitae Invitae Purine Metabolism Disorders Panel that also includes the following genes: XDH GPHN MOCOS ADA ADSL AMPD1 HPRT1 MOCS1 PNP
More info about this panelEpilepsy NGS Panel Panel
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 panelGPHN Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GPHN gene.
More info about this panelComprehensive Epilepsy NGS Panel Panel
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 panelComprehensive Metabolism Panel Panel
By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
More info about this panelMetabolic Epilepsy Panel Panel
By Blueprint Genetics Metabolic Epilepsy Panel that also includes the following genes: SLC25A1 SLC25A15 SLC2A1 BTD SUOX GPHN L2HGDH SLC39A8 SERAC1 ABAT
More info about this panelEpileptic Encephalopathy Panel Panel
By Blueprint Genetics Epileptic Encephalopathy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 ST3GAL3 ST3GAL5 SLC25A1 SLC2A1 SLC35A2
More info about this panelComprehensive Epilepsy Panel Panel
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 panelNephrolithiasis Panel Panel
By Blueprint Genetics Nephrolithiasis Panel that also includes the following genes: SLC12A1 SLC26A1 SLC34A1 SLC3A1 SLC7A9 SLC9A3R1 VDR XDH SLC2A9 CA2
More info about this panelPurine and Pyrimidine Metabolism Disorders Panel Panel
By Blueprint Genetics Purine and Pyrimidine Metabolism Disorders Panel that also includes the following genes: TPMT UMOD UMPS XDH GPHN UPB1 NT5C3A MOCOS ADA DHODH
More info about this panelHyperekplexia NGS and Deletion/Duplication Panel Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Hyperekplexia NGS and Deletion/Duplication Panel that also includes the following genes: SLC6A5 ARHGEF9 GPHN GLRA1 GLRB
More info about this panelGPHN Gene Sequencing and Deletion/Duplication Analysis Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the GPHN gene.
More info about this panelCaris MI TumorSeek 592-Gene NGS Panel Panel
By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1
More info about this panelMOLYBDENUM COFACTOR DEFICIENCY Panel
By Laboratorio de Genetica Clinica SL MOLYBDENUM COFACTOR DEFICIENCY that also includes the following genes: GPHN MOCS1 MOCS2
More info about this panelHYPEREKPLEXIA, HEREDITARY Panel
By Laboratorio de Genetica Clinica SL HYPEREKPLEXIA, HEREDITARY that also includes the following genes: SLC6A5 ARHGEF9 GPHN GLRA1 GLRB
More info about this panelMolybdenum Cofactor Deficiency C , Sequencing GPHN Gene Panel
By Reference Laboratory Genetics
This panel specifically test the GPHN gene.
More info about this panelStartle Disease , Panel Massive Sequencing (NGS) 5 Genes Panel
By Reference Laboratory Genetics Startle Disease , Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: SLC6A5 ARHGEF9 GPHN GLRA1 GLRB
More info about this panelHereditary Hyperekplexia: gene sequencing panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Hereditary Hyperekplexia: gene sequencing panel that also includes the following genes: ARHGEF9 GPHN GLRA1 GLRB
More info about this panelHereditary Hyperekplexia: gene deletion/duplication Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Hereditary Hyperekplexia: gene deletion/duplication that also includes the following genes: ARHGEF9 GPHN GLRA1 GLRB
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