RFX6 gene related symptoms and diseases

All the information presented here about the RFX6 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to RFX6 gene

Symptoms // Phenotype % Cases
Growth delay Very Common - Between 80% and 100% cases
Severe intrauterine growth retardation Very Common - Between 80% and 100% cases
Acholic stools Very Common - Between 80% and 100% cases
Diabetic ketoacidosis Very Common - Between 80% and 100% cases
Annular pancreas Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with RFX6 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Absent gallbladder
  • Meckel diverticulum
  • Pancreatic hypoplasia
  • Biliary atresia
  • Intestinal atresia
  • Duodenal atresia
  • Maternal diabetes
  • Ketoacidosis

And 15 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to RFX6 gene

Here you will find a list of rare diseases related to the RFX6. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


HYPOPLASTIC PANCREAS-INTESTINAL ATRESIA-HYPOPLASTIC GALLBLADDER SYNDROME


Alternate names

HYPOPLASTIC PANCREAS-INTESTINAL ATRESIA-HYPOPLASTIC GALLBLADDER SYNDROME Is also known as diabetes, neonatal, with pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia

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.

Most common symptoms of HYPOPLASTIC PANCREAS-INTESTINAL ATRESIA-HYPOPLASTIC GALLBLADDER SYNDROME

  • Growth delay
  • Anemia
  • Intrauterine growth retardation
  • Diarrhea
  • Diabetes mellitus


More info about HYPOPLASTIC PANCREAS-INTESTINAL ATRESIA-HYPOPLASTIC GALLBLADDER SYNDROME

SOURCES: ORPHANET OMIM


Potential gene panels for RFX6 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

RFX6 sequencing Panel

United States.

By Genetic Services Laboratory University of Chicago

This panel specifically test the RFX6 gene.

More info about this panel

RFX6 deletion/duplication analysis Panel

United States.

By Genetic Services Laboratory University of Chicago

This panel specifically test the RFX6 gene.

More info about this panel

MODY RFX6 related (sequence analysis of RFX6 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the RFX6 gene.

More info about this panel

Diabetes mellitus permanent neonatal (NGS panel for 13 genes) Panel

Portugal.

By CGC Genetics Diabetes mellitus permanent neonatal (NGS panel for 13 genes) that also includes the following genes: SLC19A2 HNF1B IER3IP1 RFX6 PTF1A GLIS3 GATA6 GCK ABCC8 INS

More info about this panel

MODY RFX6 related (delecions/duplicacions analysis of RFX6 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the RFX6 gene.

More info about this panel

MODY RFX6 related (delecions/duplicacions analysis of RFX6 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the RFX6 gene.

More info about this panel

MODY panel Panel

Germany.

By Centogene AG - the Rare Disease Company MODY panel that also includes the following genes: BLK HNF1A HNF1B KLF11 CEL ZFP57 RFX6 GCK HNF4A ABCC8

More info about this panel

Maturity-onset diabetes of the young RFX6 related Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the RFX6 gene.

More info about this panel

Maturity Onset Diabetes of the Young (MODY) Panel

Estonia.

By Asper Biogene Asper Biogene LLC Maturity Onset Diabetes of the Young (MODY) that also includes the following genes: BLK HNF1A HNF1B KLF11 CEL ZFP57 RFX6 GCK HNF4A ABCC8

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

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

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

Intellectual Disability NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3

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

RFX6 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the RFX6 gene.

More info about this panel

MODY Panel Panel

Finland.

By Blueprint Genetics MODY Panel that also includes the following genes: BLK HNF1A HNF1B KLF11 RFX6 GCK HNF4A ABCC8 INS PDX1

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

Gastrointestinal Atresia Panel Panel

Finland.

By Blueprint Genetics Gastrointestinal Atresia Panel that also includes the following genes: SOX2 TTC7A CHD7 RFX6 PTF1A CLMP DHCR7 EFTUD2 FANCB FANCC

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

MODY panel Panel

Canada.

By LifeLabs Genetics MODY panel that also includes the following genes: BLK HNF1A HNF1B KLF11 CEL ZFP57 RFX6 GCK HNF4A ABCC8

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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