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.
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
Search interest in RFX6
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 United States.
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 United States.
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 United States.
RFX6 sequencing Panel
United States.
By Genetic Services Laboratory University of Chicago
This panel specifically test the RFX6 gene.
More info about this panel United States.
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 United States.
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 Portugal.
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 Portugal.
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 Portugal.
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 Portugal.
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 Germany.
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 Germany.
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 Estonia.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
RFX6 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the RFX6 gene.
More info about this panel United States.
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 Finland.
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 Finland.
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 Finland.
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 Spain.
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 Canada.
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 Spain.
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