EIF2AK3 gene related symptoms and diseases

All the information presented here about the EIF2AK3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to EIF2AK3 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Short thorax Very Common - Between 80% and 100% cases
Ketoacidosis Very Common - Between 80% and 100% cases
Irregular vertebral endplates Very Common - Between 80% and 100% cases
Overweight Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with EIF2AK3 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Insulin-resistant diabetes mellitus
  • Exocrine pancreatic insufficiency
  • Hypoplasia of the odontoid process
  • Hyperuricemia
  • Glycosuria
  • Steatorrhea
  • Neurodevelopmental delay
  • Abnormality of neuronal migration

And 94 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to EIF2AK3 gene

Here you will find a list of rare diseases related to the EIF2AK3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


WOLCOTT-RALLISON SYNDROME


Alternate names

WOLCOTT-RALLISON SYNDROME Is also known as iddm-med syndrome, med-iddm syndrome, wolcott-rallison syndrome, wrs, early-onset diabetes mellitus with multiple epiphyseal dysplasia

Description

Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure.

Most common symptoms of WOLCOTT-RALLISON SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


More info about WOLCOTT-RALLISON SYNDROME

SOURCES: ORPHANET OMIM MESH


Potential gene panels for EIF2AK3 gene

Maturity-Onset Diabetes of the Young Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Maturity-Onset Diabetes of the Young that also includes the following genes: BLK SLC2A2 HNF1A HNF1B KLF11 WFS1 NEUROG3 IER3IP1 RFX6 CP

More info about this panel

Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel that also includes the following genes: BLK SLC2A2 STAT3 KLF11 WFS1 ZBTB20 NEUROG3 LRBA CDKN1C CEL

More info about this panel

Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Panel that also includes the following genes: BLK SLC2A2 STAT3 KLF11 WFS1 ZBTB20 NEUROG3 LRBA CDKN1C CEL

More info about this panel

Comprehensive Neonatal Diabetes Mutation Analysis Panel

United States.

By Genetic Services Laboratory University of Chicago Comprehensive Neonatal Diabetes Mutation Analysis that also includes the following genes: ZFP57 EIF2AK3 GATA4 GATA6 GCK MNX1 HYMAI ABCC8 INS FOXP3

More info about this panel

EIF2AK3 deletion/duplication analysis Panel

United States.

By Genetic Services Laboratory University of Chicago

This panel specifically test the EIF2AK3 gene.

More info about this panel

EIF2AK3 sequencing Panel

United States.

By Genetic Services Laboratory University of Chicago

This panel specifically test the EIF2AK3 gene.

More info about this panel

Neonatal Diabetes Mellitus Deletion/Duplication Analysis Panel

United States.

By Genetic Services Laboratory University of Chicago Neonatal Diabetes Mellitus Deletion/Duplication Analysis that also includes the following genes: ZFP57 EIF2AK3 GCK ABCC8 INS FOXP3 PDX1 KCNJ11

More info about this panel

Neonatal Diabetes Mellitus Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Neonatal Diabetes Mellitus Sequencing Panel that also includes the following genes: ZFP57 EIF2AK3 GATA4 GATA6 GCK MNX1 ABCC8 INS FOXP3 PDX1

More info about this panel

EIF2AK3. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the EIF2AK3 gene.

More info about this panel

Wolcott-Rallinson syndrome (sequence analysis of EIF2AK3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the EIF2AK3 gene.

More info about this panel

Wolcott-Rallison syndrome (deletion/duplication analysis of EIF2AK3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the EIF2AK3 gene.

More info about this panel

Wolcott-Rallison syndrome (deletion/duplication analysis of EIF2AK3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the EIF2AK3 gene.

More info about this panel

Multiple Epiphyseal Dysplasia with Early-Onset Diabetes Mellitus Panel

United Kingdom.

By Exeter Molecular Genetics Laboratory

This panel specifically test the EIF2AK3 gene.

More info about this panel

Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4

More info about this panel

EIF2AK3 Panel

Slovakia.

By Department of Clinical Genetics St. Elisabeth Cancer Institute

This panel specifically test the EIF2AK3 gene.

More info about this panel

Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel that also includes the following genes: RMRP BGN RUNX2 SLC26A2 SMARCAL1 ACP5 CFAP410 CCN6 XYLT1 RAB33B

More info about this panel

Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel that also includes the following genes: RMRP BGN RUNX2 SLC26A2 SMARCAL1 ACP5 CFAP410 CCN6 XYLT1 RAB33B

More info about this panel

Spondylo-Epi-Metaphyseal dysplasias NGS panel Panel

United States.

By Connective Tissue Gene Tests Spondylo-Epi-Metaphyseal dysplasias NGS panel that also includes the following genes: RMRP BGN RUNX2 SLC26A2 SMARCAL1 ACP5 CFAP410 CCN6 XYLT1 RAB33B

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

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

Mitochondrial Leucodystrophy Panel

Germany.

By MGZ Medical Genetics Center Mitochondrial Leucodystrophy that also includes the following genes: DARS2 EIF2AK3 SDHAF1 GFAP AUH

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

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

Mitochondrial Diseases Panel

Germany.

By MGZ Medical Genetics Center Mitochondrial Diseases that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SLC19A2 SLC22A5 SLC25A12

More info about this panel

Mitochondrial Encephalopathy Panel

Germany.

By MGZ Medical Genetics Center Mitochondrial Encephalopathy that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SLC19A2 SLC25A12 SLC25A3

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

Wolcott-Rallison syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the EIF2AK3 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

Wolcott-Rallison syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the EIF2AK3 gene.

More info about this panel

Alport Syndrome Panel Panel

Germany.

By CeGaT GmbH Alport Syndrome Panel that also includes the following genes: CD151 COL4A3 COL4A4 COL4A5 EIF2AK3 MYH9

More info about this panel

Spondylometaphyseal dysplasia and Spondylo-epi-(meta)-physeal dysplasia Panel Panel

Germany.

By CeGaT GmbH Spondylometaphyseal dysplasia and Spondylo-epi-(meta)-physeal dysplasia Panel that also includes the following genes: RMRP SMARCAL1 ACP5 CCN6 XYLT1 RAB33B B3GALT6 TRPV4 CHST3 CANT1

More info about this panel

Cardiovascular Diseases_General Panel Panel

Spain.

By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B

More info about this panel

Maturity-onsetdiabetes of the youngMODY Panel

Spain.

By Health in Code Maturity-onsetdiabetes of the youngMODY that also includes the following genes: BLK SLC2A2 HNF1A HNF1B KLF11 WFS1 NEUROG3 CEL IER3IP1 TBC1D4

More info about this panel

Dyslipidemias / Early atherosclerosis Panel

Spain.

By Health in Code Dyslipidemias / Early atherosclerosis that also includes the following genes: RYR1 SAR1B BLK SLCO1B1 SLC22A8 SLC2A2 HNF1A HNF1B KLF11 WFS1

More info about this panel

Diabetes mellitus, neonatal permanent Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Diabetes mellitus, neonatal permanent that also includes the following genes: SLC19A2 HNF1B WFS1 NEUROG3 RFX6 PTF1A GLIS3 EIF2AK3 GATA6 GCK

More info about this panel

Disproportionate Short Stature: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Disproportionate Short Stature: Sequencing Panel that also includes the following genes: ROR2 RUNX2 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TBCE TBX6 TRIP11

More info about this panel

Endocrine Disorders: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Endocrine Disorders: Sequencing Panel that also includes the following genes: BLK BMP15 SLC2A2 TAC3 TACR3 HNF1A HNF1B KLF11 WFS1 ZMPSTE24

More info about this panel

Skeletal Dysplasia: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Skeletal Dysplasia: Sequencing Panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SHOX SLC25A12 SLC26A2

More info about this panel

Disproportionate Short Stature: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Disproportionate Short Stature: Deletion/Duplication Panel that also includes the following genes: ROR2 RUNX2 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TBCE TRIP11 TRPS1

More info about this panel

Endocrine Disorders: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Endocrine Disorders: Deletion/Duplication Panel that also includes the following genes: BLK BMP15 SLC2A2 TAC3 TACR3 HNF1A HNF1B KLF11 WFS1 ZMPSTE24

More info about this panel

Diabetes-Obesity NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Diabetes-Obesity NGS Panel that also includes the following genes: BDNF SDCCAG8 SIM1 HNF1A HNF1B WFS1 ARL6 NEUROG3 TRIM32 CEL

More info about this panel

MODY Neonatal Diabetes NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics MODY Neonatal Diabetes NGS Panel that also includes the following genes: BLK SLC2A2 HNF1A HNF1B KLF11 WFS1 NEUROG3 CEL IER3IP1 ZFP57

More info about this panel

Skeletal Dysplasias NGS panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Skeletal Dysplasias NGS panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SLC25A12 SLC26A2 SMARCAL1

More info about this panel

EIF2AK3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the EIF2AK3 gene.

More info about this panel

Spondylometaphyseal / Spondyloepi-(meta)-physeal Dysplasia Panel Panel

Finland.

By Blueprint Genetics Spondylometaphyseal / Spondyloepi-(meta)-physeal Dysplasia Panel that also includes the following genes: RMRP BGN SMARCAL1 ACP5 CCN6 RAB33B B3GALT6 TRPV4 CHST3 CANT1

More info about this panel

Comprehensive Monogenic Diabetes Panel Panel

Finland.

By Blueprint Genetics Comprehensive Monogenic Diabetes Panel that also includes the following genes: BLK SLC16A1 SLC2A2 HNF1A HNF1B KLF11 UCP2 WFS1 NEUROG3 ZFP57

More info about this panel

Skeletal Dysplasias Core Panel Panel

Finland.

By Blueprint Genetics Skeletal Dysplasias Core Panel that also includes the following genes: RMRP ROR2 RUNX2 BMP1 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TCIRG1

More info about this panel

Comprehensive Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX

More info about this panel

Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D

More info about this panel

Wolcott-Rallison syndrome Panel

Spain.

By Bioarray

This panel specifically test the EIF2AK3 gene.

More info about this panel

EIF2AK3 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 EIF2AK3 gene.

More info about this panel

Monogenic Diabetes NGS and Deletion/Duplication Panel Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Monogenic Diabetes NGS and Deletion/Duplication Panel that also includes the following genes: BLK SLC16A1 SLC2A2 HNF1A HNF1B KLF11 UCP2 WFS1 NEUROG3 CEL

More info about this panel

DIABETES MODY & NEONATAL DIABETES : NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL DIABETES MODY & NEONATAL DIABETES : NGS PANEL that also includes the following genes: BLK SLC2A2 HNF1A HNF1B KLF11 NEUROG3 IER3IP1 ZFP57 RFX6 PTF1A

More info about this panel

Wolcott-Rallison Syndrome , Sequencing EIF2AK3 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the EIF2AK3 gene.

More info about this panel

Permanent Neonatal Diabetes Mellitus , Panel Massive Sequencing (NGS) 16 Genes Panel

Spain.

By Reference Laboratory Genetics Permanent Neonatal Diabetes Mellitus , Panel Massive Sequencing (NGS) 16 Genes that also includes the following genes: SLC19A2 HNF1B WFS1 NEUROG3 RFX6 PTF1A GLIS3 EIF2AK3 GATA6 GCK

More info about this panel


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