Mitchell-riley Syndrome; Mtchrs

Description

Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome is a rare, potentially fatal, genetic, visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated.

Clinical Features

Top most frequent phenotypes and symptoms related to Mitchell-riley Syndrome; Mtchrs

  • Growth delay
  • Anemia
  • Intrauterine growth retardation
  • Diarrhea
  • Acidosis
  • Diabetes mellitus
  • Abnormality of the genital system
  • Malabsorption
  • Sepsis
  • Ascites
And another 20 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.


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Mitchell-riley Syndrome; Mtchrs 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 %
RFX6 sequencing.

By Genetic Services Laboratory University of Chicago in United States.

RFX6
Specificity
100 %
Genes
100 %
RFX6 deletion/duplication analysis.

By Genetic Services Laboratory University of Chicago in United States.

RFX6
Specificity
100 %
Genes
100 %
MODY RFX6 related (sequence analysis of RFX6 gene).

By CGC Genetics in Portugal.

RFX6
Specificity
100 %
Genes
100 %
Diabetes mellitus permanent neonatal (NGS panel for 13 genes).

By CGC Genetics in Portugal.

PAX6, HNF1B, GCK, ABCC8, KCNJ11, INS, PDX1, SLC19A2, IER3IP1, RFX6, GLIS3, PTF1A, GATA6
Specificity
8 %
Genes
100 %
MODY RFX6 related (delecions/duplicacions analysis of RFX6 gene).

By CGC Genetics in Portugal.

RFX6
Specificity
100 %
Genes
100 %
MODY RFX6 related (delecions/duplicacions analysis of RFX6 gene).

By CGC Genetics in Portugal.

RFX6
Specificity
100 %
Genes
100 %
MODY panel.

By Centogene AG - the Rare Disease Company in Germany.

HNF1A, NEUROD1, HNF1B, GCK, ABCC8, CEL, INS, PDX1, HNF4A, RFX6, PAX4, KLF11, BLK, NKX2-2, ZFP57
Specificity
7 %
Genes
100 %
Maturity-onset diabetes of the young RFX6 related.

By Centogene AG - the Rare Disease Company in Germany.

RFX6
Specificity
100 %
Genes
100 %
Maturity Onset Diabetes of the Young (MODY).

By Asper Biogene Asper Biogene LLC in Estonia.

HNF1A, NEUROD1, HNF1B, GCK, ABCC8, CEL, KCNJ11, INS, PDX1, HNF4A, RFX6, PAX4, KLF11, BLK, ZFP57
Specificity
7 %
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 %
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 %
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 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)

View the complete list with 372 more genes
Specificity
1 %
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 %
RFX6.

By Fulgent Genetics Fulgent Genetics in United States.

RFX6
Specificity
100 %
Genes
100 %
MODY Panel.

By Blueprint Genetics in Finland.

HNF1A, NEUROD1, HNF1B, GCK, ABCC8, KCNJ11, INS, PDX1, HNF4A, RFX6, PAX4, KLF11, BLK
Specificity
8 %
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 %
Gastrointestinal Atresia Panel.

By Blueprint Genetics in Finland.

SOX2, FANCC, CHD7, DHCR7, MID1, FANCB, GLI3, EFTUD2, MYCN, RFX6, PTF1A, TTC7A, CLMP
Specificity
8 %
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 %
MODY panel.

By LifeLabs Genetics in Canada.

HNF1A, NEUROD1, HNF1B, GCK, ABCC8, CEL, INS, PDX1, HNF4A, RFX6, PAX4, KLF11, BLK, NKX2-2, ZFP57
Specificity
7 %
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

Mitchell-riley Syndrome; Mtchrs Is also known as diabetes, neonatal, with pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia;.



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