Epiphyseal Dysplasia, Multiple, With Early-onset Diabetes Mellitus

Description

Wolcott-Rallison syndrome is a rare autosomal recessive disorder characterized by permanent neonatal or early infancy insulin-dependent diabetes. Epiphyseal dysplasia, osteoporosis, and growth retardation develop at a later age. Other frequent multisystem manifestations include hepatic and renal dysfunction, mental retardation, and cardiovascular abnormalities (summary by Delepine et al., 2000).

Clinical Features

Top most frequent phenotypes and symptoms related to Epiphyseal Dysplasia, Multiple, With Early-onset Diabetes Mellitus

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Hypertelorism
  • Motor delay
  • Muscular hypotonia
  • Anemia
  • Depressed nasal bridge
And another 97 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Epiphyseal Dysplasia, Multiple, With Early-onset Diabetes Mellitus Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Maturity-Onset Diabetes of the Young.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

HNF1A, NEUROD1, HNF1B, WFS1, GCK, CISD2, ABCC8, KCNJ11, INS, PDX1, HNF4A, FOXP3, CP, IER3IP1, SLC2A2, AKT2, RFX6, PAX4, KLF11, BLK , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

NEUROD1, WFS1, GCK, GLUD1, CISD2, STAT3, AIRE, CDKN1C, ABCC8, CEL, KCNJ11, INS, PDX1, FOXP3, CP, GATA4, IER3IP1, PCBD1, HADH, SLC2A2 , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Panel.

By Genetic Services Laboratory University of Chicago in United States.

NEUROD1, WFS1, GCK, GLUD1, CISD2, STAT3, AIRE, CDKN1C, ABCC8, CEL, KCNJ11, INS, PDX1, FOXP3, CP, GATA4, IER3IP1, PCBD1, HADH, SLC2A2 , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
Comprehensive Neonatal Diabetes Mutation Analysis.

By Genetic Services Laboratory University of Chicago in United States.

GCK, ABCC8, KCNJ11, INS, PDX1, FOXP3, GATA4, GATA6, EIF2AK3, NKX2-2, MNX1, ZFP57, PLAGL1, HYMAI
Specificity
8 %
Genes
100 %
EIF2AK3 deletion/duplication analysis.

By Genetic Services Laboratory University of Chicago in United States.

EIF2AK3
Specificity
100 %
Genes
100 %
EIF2AK3 sequencing.

By Genetic Services Laboratory University of Chicago in United States.

EIF2AK3
Specificity
100 %
Genes
100 %
Neonatal Diabetes Mellitus Deletion/Duplication Analysis.

By Genetic Services Laboratory University of Chicago in United States.

GCK, ABCC8, KCNJ11, INS, PDX1, FOXP3, EIF2AK3, ZFP57
Specificity
13 %
Genes
100 %
Neonatal Diabetes Mellitus Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

GCK, ABCC8, KCNJ11, INS, PDX1, FOXP3, GATA4, GATA6, EIF2AK3, NKX2-2, MNX1, ZFP57
Specificity
9 %
Genes
100 %
EIF2AK3. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

EIF2AK3
Specificity
100 %
Genes
100 %
Wolcott-Rallinson syndrome (sequence analysis of EIF2AK3 gene).

By CGC Genetics in Portugal.

EIF2AK3
Specificity
100 %
Genes
100 %
Wolcott-Rallison syndrome (deletion/duplication analysis of EIF2AK3 gene).

By CGC Genetics in Portugal.

EIF2AK3
Specificity
100 %
Genes
100 %
Wolcott-Rallison syndrome (deletion/duplication analysis of EIF2AK3 gene).

By CGC Genetics in Portugal.

EIF2AK3
Specificity
100 %
Genes
100 %
Multiple Epiphyseal Dysplasia with Early-Onset Diabetes Mellitus.

By Exeter Molecular Genetics Laboratory in United Kingdom.

EIF2AK3
Specificity
100 %
Genes
100 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, SHH, FBN1, DHODH , (...)

View the complete list with 238 more genes
Specificity
1 %
Genes
100 %
EIF2AK3.

By Department of Clinical Genetics Odense University Hospital in Denmark.

EIF2AK3
Specificity
100 %
Genes
100 %
Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

COL2A1, FGFR3, COL10A1, IDUA, RMRP, RUNX2, SBDS, SLC26A2, TRPV4, HSPG2, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, CANT1, PTH1R, COMP, DYM, CFAP410 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel.

By Connective Tissue Gene Tests in United States.

COL2A1, FGFR3, COL10A1, IDUA, RMRP, RUNX2, SBDS, SLC26A2, TRPV4, HSPG2, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, CANT1, PTH1R, COMP, DYM, CFAP410 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Spondylo-Epi-Metaphyseal dysplasias NGS panel.

By Connective Tissue Gene Tests in United States.

COL2A1, FGFR3, COL10A1, IDUA, RMRP, RUNX2, SBDS, SLC26A2, TRPV4, HSPG2, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, CANT1, PTH1R, COMP, DYM, CFAP410 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
100 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
100 %
Mitochondrial Leucodystrophy.

By MGZ Medical Genetics Center in Germany.

AUH, DARS2, SDHAF1, GFAP, EIF2AK3
Specificity
20 %
Genes
100 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA , (...)

View the complete list with 577 more genes
Specificity
1 %
Genes
100 %
Epilepsy and Mitochondrial Encephalopathy.

By MGZ Medical Genetics Center in Germany.

UBE3A, YARS2, PC, UQCRQ, UQCRB, SDHAF2, OPA1, TRMU, WFS1, POLG, NDUFS4, SLC25A19, SLC25A4, FOXRED1, RRM2B, NDUFAF2, SDHC, PANK2, MECP2, MTO1 , (...)

View the complete list with 166 more genes
Specificity
1 %
Genes
100 %
Mitochondrial Diseases.

By MGZ Medical Genetics Center in Germany.

AARS2, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, UQCRB, ATP5F1E, ATPAF2, AUH, BCS1L, TWNK, C12orf65, SDHAF2, CPT2, OPA1, TRMU , (...)

View the complete list with 148 more genes
Specificity
1 %
Genes
100 %
Mitochondrial Encephalopathy.

By MGZ Medical Genetics Center in Germany.

AARS2, ACAD9, YARS2, PC, UQCRQ, UQCRB, ATP5F1E, ATPAF2, AUH, BCS1L, TWNK, SDHAF2, OPA1, TRMU, WFS1, DLD, POLG, NDUFS4, SLC25A19, SLC25A4 , (...)

View the complete list with 111 more genes
Specificity
1 %
Genes
100 %
Epilepsy.

By MGZ Medical Genetics Center in Germany.

UBE3A, YARS2, PC, UQCRQ, UQCRB, SDHAF2, AMACR, OPA1, TRMU, WFS1, POLG, NDUFS4, SLC25A19, SLC25A4, FOXRED1, RRM2B, NDUFAF2, SDHC, PANK2, MECP2 , (...)

View the complete list with 192 more genes
Specificity
1 %
Genes
100 %
Wolcott-Rallison syndrome.

By Centogene AG - the Rare Disease Company in Germany.

EIF2AK3
Specificity
100 %
Genes
100 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
Wolcott-Rallison syndrome.

By Centogene AG - the Rare Disease Company in Germany.

EIF2AK3
Specificity
100 %
Genes
100 %
Alport Syndrome Panel.

By CeGaT GmbH in Germany.

COL4A3, COL4A4, COL4A5, CD151, MYH9, EIF2AK3
Specificity
17 %
Genes
100 %
Spondylometaphyseal dysplasia and Spondylo-epi-(meta)-physeal dysplasia Panel.

By CeGaT GmbH in Germany.

COL2A1, SLC39A13, RMRP, TRPV4, HSPG2, COL11A1, COL11A2, CANT1, DYM, B3GALT6, EIF2AK3, SMARCAL1, WISP3, CHST3, IMPAD1, NKX3-2, ACP5, RAB33B, TRAPPC2, MATN3 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Cardiovascular Diseases_General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATP7A, ATPAF2, B4GALT7, GAA, HNF1A, NEUROD1, PPARG, COL1A1, COL1A2, COL3A1, ELAC2, PSEN1, HNF1B , (...)

View the complete list with 360 more genes
Specificity
1 %
Genes
100 %
Maturity-onset diabetes of the young MODY.

By Health in Code in Spain.

HNF1A, NEUROD1, HNF1B, WFS1, GCK, CEL, KCNJ11, INS, PDX1, HNF4A, FOXP3, IER3IP1, SLC2A2, RFX6, PAX4, KLF11, BLK, GLIS3, NEUROG3, PTF1A , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Dyslipidemias / Early atherosclerosis.

By Health in Code in Spain.

HNF1A, NEUROD1, PPARG, HNF1B, CPT2, WFS1, PCDH15, GCK, GPD1, CAVIN1, PNPLA2, MEF2A, COQ2, PYGM, LDLR, LEP, LIPA, MTTP, LMNA, APOE , (...)

View the complete list with 64 more genes
Specificity
2 %
Genes
100 %
Diabetes mellitus, neonatal permanent.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

NEUROD1, PAX6, HNF1B, WFS1, GCK, ABCC8, KCNJ11, INS, PDX1, SLC19A2, FOXP3, RFX6, GLIS3, NEUROG3, PTF1A, GATA6, EIF2AK3
Specificity
6 %
Genes
100 %
Disproportionate Short Stature: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ANKH, COL2A1, COL1A1, FBN1, SLC39A13, AGPS, CTSK, FAM20C, FGFR3, COL10A1, PTPN11, RUNX2, FGFR2, CDKN1C, PRKAR1A, SLC26A2, TRPV4, FGFR1, SHOX, ANO5 , (...)

View the complete list with 65 more genes
Specificity
2 %
Genes
100 %
Endocrine Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

HNF1A, NEUROD1, PPARG, HNF1B, WFS1, GCK, CAVIN1, CISD2, CYP17A1, CHD7, ABCC8, LMNA, NR0B1, GNRH1, FGFR1, LHCGR, KCNJ11, TACR3, KISS1R, GNRHR , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
100 %
Skeletal Dysplasia: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67 , (...)

View the complete list with 143 more genes
Specificity
1 %
Genes
100 %
Disproportionate Short Stature: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ANKH, COL2A1, COL1A1, FBN1, SLC39A13, CTSK, FAM20C, FGFR3, COL10A1, PTPN11, RUNX2, FGFR2, CDKN1C, PRKAR1A, SLC26A2, TRPV4, FGFR1, SHOX, ANO5, HSPG2 , (...)

View the complete list with 56 more genes
Specificity
2 %
Genes
100 %
Endocrine Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

HNF1A, NEUROD1, PPARG, HNF1B, WFS1, GCK, CAVIN1, CISD2, CYP17A1, CHD7, ABCC8, LMNA, NR0B1, GNRH1, FGFR1, LHCGR, KCNJ11, TACR3, KISS1R, GNRHR , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
100 %
Diabetes-Obesity NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HNF1A, NEUROD1, HNF1B, WFS1, ARL6, MKKS, CEP290, TTC8, TRIM32, GCK, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, ALMS1 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
MODY Neonatal Diabetes NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HNF1A, NEUROD1, HNF1B, WFS1, GCK, GLUD1, CISD2, ABCC8, CEL, KCNJ11, INS, PDX1, HNF4A, FOXP3, CP, IER3IP1, HADH, SLC2A2, AKT2, RFX6 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Skeletal Dysplasias NGS panel.

By Fulgent Genetics Fulgent Genetics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67 , (...)

View the complete list with 141 more genes
Specificity
1 %
Genes
100 %
EIF2AK3.

By Fulgent Genetics Fulgent Genetics in United States.

EIF2AK3
Specificity
100 %
Genes
100 %
Spondylometaphyseal / Spondyloepi-(meta)-physeal Dysplasia Panel.

By Blueprint Genetics in Finland.

COL2A1, SLC39A13, RMRP, TRPV4, HSPG2, COL11A1, COL11A2, CANT1, DYM, BGN, B3GALT6, EIF2AK3, SMARCAL1, WISP3, CHST3, NKX3-2, ACP5, RAB33B, TRAPPC2, MATN3 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Comprehensive Monogenic Diabetes Panel.

By Blueprint Genetics in Finland.

HNF1A, NEUROD1, PPARG, HNF1B, SLC16A1, WFS1, GCK, UCP2, GLUD1, ABCC8, KCNJ11, INS, PDX1, HNF4A, FOXP3, HADH, SLC2A2, RFX6, PAX4, KLF11 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Skeletal Dysplasias Core Panel.

By Blueprint Genetics in Finland.

ALPL, ANKH, FKBP10, LRP5, COL2A1, COL1A1, COL1A2, TGFB1, TNFRSF11A, CLCN7, SERPINF1, SLC39A13, P3H1, CRTAP, PLOD2, AGPS, CTSK, CYP27B1, FAM20C, CA2 , (...)

View the complete list with 91 more genes
Specificity
1 %
Genes
100 %
Comprehensive Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2, FBN1, SERPINF1, SP7 , (...)

View the complete list with 226 more genes
Specificity
1 %
Genes
100 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, BCS1L, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2 , (...)

View the complete list with 288 more genes
Specificity
1 %
Genes
100 %
Wolcott-Rallison syndrome.

By Bioarray in Spain.

EIF2AK3
Specificity
100 %
Genes
100 %
CarrierMap.

By Recombine in United States.

FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, PC, USH1C, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, BCKDHA , (...)

View the complete list with 281 more genes
Specificity
1 %
Genes
100 %
EIF2AK3 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

EIF2AK3
Specificity
100 %
Genes
100 %
Monogenic Diabetes NGS and Deletion/Duplication Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

HNF1A, NEUROD1, PPARG, HNF1B, SLC16A1, WFS1, GCK, UCP2, GLUD1, ABCC8, CEL, KCNJ11, INS, PDX1, HNF4A, FOXP3, HADH, SLC2A2, PAX4, KLF11 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
DIABETES MODY & NEONATAL DIABETES : NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

HNF1A, NEUROD1, HNF1B, GCK, GLUD1, ABCC8, KCNJ11, INS, PDX1, HNF4A, FOXP3, IER3IP1, SLC2A2, RFX6, PAX4, KLF11, BLK, GLIS3, PTF1A, EIF2AK3 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Wolcott-Rallison Syndrome , Sequencing EIF2AK3 Gene.

By Reference Laboratory Genetics in Spain.

EIF2AK3
Specificity
100 %
Genes
100 %
Permanent Neonatal Diabetes Mellitus , Panel Massive Sequencing (NGS) 16 Genes.

By Reference Laboratory Genetics in Spain.

NEUROD1, HNF1B, WFS1, GCK, ABCC8, KCNJ11, INS, PDX1, SLC19A2, FOXP3, RFX6, GLIS3, NEUROG3, PTF1A, GATA6, EIF2AK3
Specificity
7 %
Genes
100 %

Alternate names

Epiphyseal Dysplasia, Multiple, With Early-onset Diabetes Mellitus Is also known as med-iddm syndrome, iddm-med syndrome, wolcott-rallison syndrome;early-onset diabetes mellitus with multiple epiphyseal dysplasia; wrs.


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