EIF2B4 gene related symptoms and diseases

All the information presented here about the EIF2B4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to EIF2B4 gene

Symptoms // Phenotype % Cases
Seizures Rare - less than 30% cases
Personality changes Rare - less than 30% cases
Primary amenorrhea Rare - less than 30% cases
Hemiparesis Rare - less than 30% cases
Progressive neurologic deterioration Rare - less than 30% cases

Other less frequent symptoms and clinical features

Patients with EIF2B4 gene alterations may also develop some of the following symptoms and phenotypes:
  • Rarely - Less than 30% cases

  • Spastic gait
  • Leukodystrophy
  • Muscle stiffness
  • Paraparesis
  • Spastic paraparesis
  • Leukoencephalopathy
  • CNS hypomyelination
  • Encephalitis

And 47 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to EIF2B4 gene

Here you will find a list of rare diseases related to the EIF2B4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CREE LEUKOENCEPHALOPATHY



More info about CREE LEUKOENCEPHALOPATHY

SOURCES: ORPHANET

OVARIOLEUKODYSTROPHY



More info about OVARIOLEUKODYSTROPHY

SOURCES: ORPHANET

LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM


Alternate names

LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM Is also known as cach, cle, childhood ataxia with central nervous system hypomyelinization, cree leukoencephalopathy, vanishing white matter leukodystrophy

Description

Vanishing white matter leukodystrophy is an autosomal recessive neurologic disorder characterized by variable neurologic features, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging. The age at onset can range from early infancy to adulthood. Rapid neurologic deterioration can occur following minor head trauma. Female mutation carriers may develop ovarian failure, manifest as primary amenorrhea or as secondary amenorrhea lasting more than 6 months, associated with elevated gonadotropin levels at age less than 40 years (summary by Van der Knaap et al., 1998 and Schiffmann et al., 1997).

Most common symptoms of LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Muscle weakness
  • Muscular hypotonia


More info about LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM

SOURCES: ORPHANET OMIM

CONGENITAL OR EARLY INFANTILE CACH SYNDROME



More info about CONGENITAL OR EARLY INFANTILE CACH SYNDROME

SOURCES: ORPHANET

LATE INFANTILE CACH SYNDROME



More info about LATE INFANTILE CACH SYNDROME

SOURCES: ORPHANET

JUVENILE OR ADULT CACH SYNDROME



More info about JUVENILE OR ADULT CACH SYNDROME

SOURCES: ORPHANET


Potential gene panels for EIF2B4 gene

Leukoencephalopathy with Vanishing White Matter Evaluation Panel

United States.

By Athena Diagnostics Inc Leukoencephalopathy with Vanishing White Matter Evaluation that also includes the following genes: EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5

More info about this panel

EIF2B4 DNA Sequencing Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the EIF2B4 gene.

More info about this panel

Ataxia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2

More info about this panel

EIF2B4. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the EIF2B4 gene.

More info about this panel

EIF2B4-Related Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter Panel

Netherlands.

By Center for Childhood White Matter Disorders Vrije Universiteit Medical Center

This panel specifically test the EIF2B4 gene.

More info about this panel

Leukoencephalopathy with vanishing white matter (sequence analysis of EIF2B4 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the EIF2B4 gene.

More info about this panel

Leukoencephalopathy with vanishing white matter (NGS panel for 5 genes) Panel

Portugal.

By CGC Genetics Leukoencephalopathy with vanishing white matter (NGS panel for 5 genes) that also includes the following genes: EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5

More info about this panel

Leukoencephalopathy with Vanishing White Matter and Ovarioleukodystrophy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Leukoencephalopathy with Vanishing White Matter and Ovarioleukodystrophy Sequencing Panel with CNV Detection that also includes the following genes: EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5

More info about this panel

Leukoencephalopathy with Vanishing White Matter and Ovarioleukodystrophy via EIF2B4 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the EIF2B4 gene.

More info about this panel

Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection that also includes the following genes: SCP2 AIMP1 SDHB SLC16A2 SLC17A5 SLC25A1 SLC25A12 SLC25A4 SOX10 SPG11

More info about this panel

Female Infertility Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Female Infertility Sequencing Panel with CNV Detection that also includes the following genes: BMP15 SEMA3A SEMA3E FOXL2 SOX10 SOX2 SOX3 SOX9 SRA1 SRD5A2

More info about this panel

Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A SEMA3E BMP7 FOXL2 BRDT SOS1

More info about this panel

Premature Ovarian Failure (POF) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Premature Ovarian Failure (POF) Sequencing Panel with CNV Detection that also includes the following genes: BMP15 FOXL2 STAG3 MCM8 PSMC3IP HFM1 CLPP MCM9 NOBOX FIGLA

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

Leukoencephalopathy with vanishing white matter Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the EIF2B4 gene.

More info about this panel

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

Leukodystrophy / Leukencephalopathy Panel Panel

Germany.

By CeGaT GmbH Leukodystrophy / Leukencephalopathy Panel that also includes the following genes: AIMP1 SOX10 TREX1 SAMHD1 MLC1 GJC2 RNASEH2A CLCN2 SUMF1 L2HGDH

More info about this panel

Leukodystrophy and Leukoencephalopathy Panel Panel

Germany.

By CeGaT GmbH Leukodystrophy and Leukoencephalopathy Panel that also includes the following genes: AIMP1 SOX10 TREX1 SAMHD1 MLC1 GJC2 RNASEH2A CLCN2 SUMF1 L2HGDH

More info about this panel

Ataxia and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Ataxia and differential diagnoses Panel that also includes the following genes: RPIA SACS ATXN1 ATXN10 ATXN2 ATXN7 SCN2A SLC17A5 SLC1A3 SLC6A1

More info about this panel

Leukodystrophy / Leukencephalopathy and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Leukodystrophy / Leukencephalopathy and differential diagnoses Panel that also includes the following genes: BCS1L SCO2 SCP2 AIMP1 SDHA SLC16A2 SLC17A5 SLC25A1 SLC25A12 SOX10

More info about this panel

Leukodystrophy / Leukoencephalopathy Panel Panel

Germany.

By CeGaT GmbH Leukodystrophy / Leukoencephalopathy Panel that also includes the following genes: SCP2 AIMP1 SLC16A2 SLC17A5 SOX10 ACOX1 TREX1 TYROBP VPS11 SAMHD1

More info about this panel

Leukodystrophy and Leukoencephalopathy Panel

Estonia.

By Asper Biogene Asper Biogene LLC Leukodystrophy and Leukoencephalopathy that also includes the following genes: SCP2 AIMP1 SOX10 TREX1 SAMHD1 MLC1 GJC2 RNASEH2A CLCN2 SUMF1

More info about this panel

Leukodistrophy Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Leukodistrophy that also includes the following genes: SCP2 AIMP1 SDHA SLC16A2 SOX10 TREX1 TYROBP BEST1 SAMHD1 MLC1

More info about this panel

Leukoencephalopathy with vanishing white matter Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Leukoencephalopathy with vanishing white matter that also includes the following genes: EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5

More info about this panel

Childhood Ataxia with Central Nervous System Hypomyelination: EIF2B4 Gene Sequencing Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the EIF2B4 gene.

More info about this panel

Childhood Ataxia with Central Nervous System Hypomyelination: EIF2B4 Gene Deletion/Duplication Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the EIF2B4 gene.

More info about this panel

Childhood Ataxia with Central Nervous System Hypomyelination: EIF2B1-EIF2B5 Gene Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Childhood Ataxia with Central Nervous System Hypomyelination: EIF2B1-EIF2B5 Gene Sequencing Panel that also includes the following genes: EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5

More info about this panel

Childhood Ataxia with Central Nervous System Hypomyelination: EIF2B1-EIF2B5 Gene Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Childhood Ataxia with Central Nervous System Hypomyelination: EIF2B1-EIF2B5 Gene Deletion/Duplication Panel that also includes the following genes: EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5

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

Leukoencephalopathy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Leukoencephalopathy NGS Panel that also includes the following genes: SCP2 SLC25A12 ACOX1 MLC1 GJC2 ABAT CSF1R FAM126A DARS2 HEPACAM

More info about this panel

EIF2B4 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the EIF2B4 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

Leukodystrophy and Leukoencephalopathy Panel Panel

Finland.

By Blueprint Genetics Leukodystrophy and Leukoencephalopathy Panel that also includes the following genes: SCO1 AIMP1 SOX10 TREX1 GFM1 NDUFAF5 SAMHD1 NFU1 MRPL44 MLC1

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

Leukoencephalopathy with vanishing white matter Panel

Spain.

By Bioarray

This panel specifically test the EIF2B4 gene.

More info about this panel

LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER (CACH SYNDROME) Panel

Spain.

By Laboratorio de Genetica Clinica SL LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER (CACH SYNDROME) that also includes the following genes: EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5

More info about this panel

LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER NGS PANEL that also includes the following genes: EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5

More info about this panel

Leukoencephalopathy with Vanishing White Matter, Sequencing EIF2B4 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the EIF2B4 gene.

More info about this panel

Leukodystrophies , Panel Massive Sequencing (NGS) 57 genes Panel

Spain.

By Reference Laboratory Genetics Leukodystrophies , Panel Massive Sequencing (NGS) 57 genes that also includes the following genes: AIMP1 SDHA SLC16A2 SOX10 TREX1 TYROBP BEST1 SAMHD1 MLC1 GJC2

More info about this panel

Leukoencephalopathy with Vanishing White Matter , Panel Massive Sequencing (NGS) EIF2B1, EIF2B2,EIF2B3, EIF2B4, EIF2B5 Genes Panel

Spain.

By Reference Laboratory Genetics Leukoencephalopathy with Vanishing White Matter , Panel Massive Sequencing (NGS) EIF2B1, EIF2B2,EIF2B3, EIF2B4, EIF2B5 Genes that also includes the following genes: EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5

More info about this panel


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