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.

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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

SOURCES: OMIM ORPHANET

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

SOURCES: ORPHANET OMIM MESH


Potential gene panels for GPHN gene

Molybdenum cofactor deficiency C (sequence analysis of GPHN gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the GPHN gene.

More info about this panel

Hyperekplexia (NGS panel for 7 genes) Panel

Portugal.

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 panel

Molybdenum Cofactor Deficiency via GPHN Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the GPHN gene.

More info about this panel

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

Molybdenum cofactor deficiency, type C Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen

This panel specifically test the GPHN gene.

More info about this panel

Mental retardation - different panels Panel

Germany.

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 panel

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

Epileptic Encephalopathy Panel

Germany.

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 panel

Epilepsy and Mitochondrial Encephalopathy Panel

Germany.

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 panel

Hyperekplexia Panel

Germany.

By MGZ Medical Genetics Center Hyperekplexia that also includes the following genes: SLC6A5 ARHGEF9 GPHN GLRA1 GLRB

More info about this panel

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

Molybdenum cofactor deficiency, type C (GPHN) Panel

Netherlands.

By VU University Medical Center Metabolic Unit, PX 1X 009

This panel specifically test the GPHN gene.

More info about this panel

Metabolic disease with epilepsy panel Panel

Netherlands.

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 panel

Hyperekplexia panel Panel

Germany.

By Centogene AG - the Rare Disease Company Hyperekplexia panel that also includes the following genes: SLC6A2 ARHGEF9 GPHN GLRA1 GLRB

More info about this panel

Hyperekplexia Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the GPHN gene.

More info about this panel

CentoICU platinum plus Panel

Germany.

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 panel

New Born testing (CentoICU) Panel

Germany.

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 panel

Epileptic Encephalopathy Panel Panel

Germany.

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 panel

Hyperekplexia Panel Panel

Germany.

By CeGaT GmbH Hyperekplexia Panel that also includes the following genes: SLC6A5 ARHGEF9 GPHN GLRA1 GLRB

More info about this panel

Metabolic Epilepsy Panel Panel

Germany.

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 panel

Molybdenum Cofactor Deficiency Panel Panel

Germany.

By CeGaT GmbH Molybdenum Cofactor Deficiency Panel that also includes the following genes: GPHN MOCS1 MOCS2

More info about this panel

Single gene testing GPHN Panel

Germany.

By CeGaT GmbH

This panel specifically test the GPHN gene.

More info about this panel

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

Invitae Hereditary Hyperekplexia Panel Panel

United States.

By Invitae Invitae Hereditary Hyperekplexia Panel that also includes the following genes: SLC6A5 ARHGEF9 GPHN CLPB GLRA1 GLRB

More info about this panel

Invitae Neurotransmitter Disorders Panel Panel

United States.

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 panel

Invitae Purine Metabolism Disorders Panel Panel

United States.

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 panel

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

GPHN Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GPHN gene.

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

Comprehensive Metabolism Panel Panel

Finland.

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 panel

Metabolic Epilepsy Panel Panel

Finland.

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 panel

Epileptic Encephalopathy Panel Panel

Finland.

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 panel

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

Nephrolithiasis Panel Panel

Finland.

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 panel

Purine and Pyrimidine Metabolism Disorders Panel Panel

Finland.

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 panel

Hyperekplexia NGS and Deletion/Duplication Panel Panel

United States.

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 panel

GPHN Gene Sequencing and Deletion/Duplication Analysis Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children

This panel specifically test the GPHN gene.

More info about this panel

Caris MI TumorSeek 592-Gene NGS Panel Panel

United States.

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 panel

MOLYBDENUM COFACTOR DEFICIENCY Panel

Spain.

By Laboratorio de Genetica Clinica SL MOLYBDENUM COFACTOR DEFICIENCY that also includes the following genes: GPHN MOCS1 MOCS2

More info about this panel

HYPEREKPLEXIA, HEREDITARY Panel

Spain.

By Laboratorio de Genetica Clinica SL HYPEREKPLEXIA, HEREDITARY that also includes the following genes: SLC6A5 ARHGEF9 GPHN GLRA1 GLRB

More info about this panel

Molybdenum Cofactor Deficiency C , Sequencing GPHN Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the GPHN gene.

More info about this panel

Startle Disease , Panel Massive Sequencing (NGS) 5 Genes Panel

Spain.

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 panel

Hereditary Hyperekplexia: gene sequencing panel Panel

Canada.

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 panel

Hereditary Hyperekplexia: gene deletion/duplication Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Hereditary Hyperekplexia: gene deletion/duplication that also includes the following genes: ARHGEF9 GPHN GLRA1 GLRB

More info about this panel


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