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.
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
Search interest in EIF2AK3
Potential gene panels for EIF2AK3 gene
Maturity-Onset Diabetes of the Young Panel
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 panelNeonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel Panel
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 panelNeonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Panel Panel
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 panelComprehensive Neonatal Diabetes Mutation Analysis Panel
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 panelEIF2AK3 deletion/duplication analysis Panel
By Genetic Services Laboratory University of Chicago
This panel specifically test the EIF2AK3 gene.
More info about this panelEIF2AK3 sequencing Panel
By Genetic Services Laboratory University of Chicago
This panel specifically test the EIF2AK3 gene.
More info about this panelNeonatal Diabetes Mellitus Deletion/Duplication Analysis Panel
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 panelNeonatal Diabetes Mellitus Sequencing Panel Panel
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 panelEIF2AK3. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the EIF2AK3 gene.
More info about this panelWolcott-Rallinson syndrome (sequence analysis of EIF2AK3 gene) Panel
By CGC Genetics
This panel specifically test the EIF2AK3 gene.
More info about this panelWolcott-Rallison syndrome (deletion/duplication analysis of EIF2AK3 gene) Panel
By CGC Genetics
This panel specifically test the EIF2AK3 gene.
More info about this panelWolcott-Rallison syndrome (deletion/duplication analysis of EIF2AK3 gene) Panel
By CGC Genetics
This panel specifically test the EIF2AK3 gene.
More info about this panelMultiple Epiphyseal Dysplasia with Early-Onset Diabetes Mellitus Panel
By Exeter Molecular Genetics Laboratory
This panel specifically test the EIF2AK3 gene.
More info about this panelSkeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel
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 panelEIF2AK3 Panel
By Department of Clinical Genetics St. Elisabeth Cancer Institute
This panel specifically test the EIF2AK3 gene.
More info about this panelSpondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel Panel
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 panelSpondylo-Epi-Metaphyseal dysplasias Comprehensive panel Panel
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 panelSpondylo-Epi-Metaphyseal dysplasias NGS panel Panel
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 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 panelHereditary kidney disorders - different panels Panel
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 panelMitochondrial Leucodystrophy Panel
By MGZ Medical Genetics Center Mitochondrial Leucodystrophy that also includes the following genes: DARS2 EIF2AK3 SDHAF1 GFAP AUH
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 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 panelMitochondrial Diseases Panel
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 panelMitochondrial Encephalopathy Panel
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 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 panelWolcott-Rallison syndrome Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the EIF2AK3 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 panelWolcott-Rallison syndrome Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the EIF2AK3 gene.
More info about this panelAlport Syndrome Panel Panel
By CeGaT GmbH Alport Syndrome Panel that also includes the following genes: CD151 COL4A3 COL4A4 COL4A5 EIF2AK3 MYH9
More info about this panelSpondylometaphyseal dysplasia and Spondylo-epi-(meta)-physeal dysplasia Panel Panel
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 panelCardiovascular Diseases_General Panel Panel
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 panelMaturity-onsetdiabetes of the youngMODY Panel
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 panelDyslipidemias / Early atherosclerosis Panel
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 panelDiabetes mellitus, neonatal permanent Panel
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 panelDisproportionate Short Stature: Sequencing Panel Panel
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 panelEndocrine Disorders: Sequencing Panel Panel
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 panelSkeletal Dysplasia: Sequencing Panel Panel
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 panelDisproportionate Short Stature: Deletion/Duplication Panel Panel
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 panelEndocrine Disorders: Deletion/Duplication Panel Panel
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 panelDiabetes-Obesity NGS Panel Panel
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 panelMODY Neonatal Diabetes NGS Panel Panel
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 panelSkeletal Dysplasias NGS panel Panel
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 panelEIF2AK3 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the EIF2AK3 gene.
More info about this panelSpondylometaphyseal / Spondyloepi-(meta)-physeal Dysplasia Panel Panel
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 panelComprehensive Monogenic Diabetes Panel Panel
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 panelSkeletal Dysplasias Core Panel Panel
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 panelComprehensive Skeletal Dysplasias and Disorders Panel Panel
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 panelComprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel
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 panelWolcott-Rallison syndrome Panel
By Bioarray
This panel specifically test the EIF2AK3 gene.
More info about this panelEIF2AK3 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 EIF2AK3 gene.
More info about this panelMonogenic Diabetes NGS and Deletion/Duplication Panel Panel
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 panelDIABETES MODY & NEONATAL DIABETES : NGS PANEL Panel
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 panelWolcott-Rallison Syndrome , Sequencing EIF2AK3 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the EIF2AK3 gene.
More info about this panelPermanent Neonatal Diabetes Mellitus , Panel Massive Sequencing (NGS) 16 Genes Panel
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
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