FBP1 gene related symptoms and diseases
All the information presented here about the FBP1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to FBP1 gene
Symptoms // Phenotype | % Cases |
---|---|
Seizures | Very Common - Between 80% and 100% cases |
Metabolic acidosis | Very Common - Between 80% and 100% cases |
Impaired gluconeogenesis | Very Common - Between 80% and 100% cases |
Neonatal hyperbilirubinemia | Very Common - Between 80% and 100% cases |
Severe lactic acidosis | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with FBP1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Ketosis
- Neonatal hypoglycemia
- Hyperventilation
- Drowsiness
- Hyperuricemia
- Tachypnea
- Hyperbilirubinemia
- Coma
And 14 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to FBP1 gene
Here you will find a list of rare diseases related to the FBP1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY
Alternate names
FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY Is also known as fructose-1,6-diphosphatase deficiency, fbpase deficiency
Description
Fructose-1,6-biphosphatase (FBP) deficiency is a disorder of fructose metabolism (see this term) characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis, that may be life-threatening in neonates and infants.
Most common symptoms of FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY
- Seizures
- Generalized hypotonia
- Muscular hypotonia
- Hepatomegaly
- Fever
Search interest in FBP1
Potential gene panels for FBP1 gene
ALDOB, FBP1,GYS2 & PC Sequence Analysis Panel
By Baylor Miraca Genetics Laboratories ALDOB, FBP1,GYS2 & PC Sequence Analysis that also includes the following genes: FBP1 ALDOB GYS2 PC
More info about this panelMitoMet®Plus aCGH Analysis Panel
By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panelFBP1 Sequence Analysis (Prenatal Diagnosis) Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the FBP1 gene.
More info about this panelFBP1 Sequence Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the FBP1 gene.
More info about this panelFBP1 Deletion/Duplication Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the FBP1 gene.
More info about this panelFBP1 Comprehensive - Sequence & Deletion/Duplication Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the FBP1 gene.
More info about this panelGluconeogenesis Disorders Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Gluconeogenesis Disorders that also includes the following genes: FBP1 ALDOB GYS2 PC
More info about this panelGlycogen Storage Disease and Gluconeogenesis Sequencing Panel Panel
By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague Glycogen Storage Disease and Gluconeogenesis Sequencing Panel that also includes the following genes: SLC2A2 AGL ENO3 FBP1 G6PC SLC37A4 GAA ALDOA ALDOB GBE1
More info about this panelFructose 1,6 Bisphosphatase Deficiency Panel
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust
This panel specifically test the FBP1 gene.
More info about this panelGlycogen Storage Disease- Liver Panel
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Glycogen Storage Disease- Liver that also includes the following genes: SLC2A2 AGL FBP1 G6PC SLC37A4 GBE1 GYG2 GYS2 PFKL PHKA2
More info about this panelFBP1. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the FBP1 gene.
More info about this panelGlycogen Storage Disease Del/Dup Panel Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Glycogen Storage Disease Del/Dup Panel that also includes the following genes: SLC16A1 SLC2A2 AGL FBP1 G6PC SLC37A4 GAA GBE1 GYS2 PCK1
More info about this panelGlycogen Storage Disease Seq + Del/Dup Panel Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Glycogen Storage Disease Seq + Del/Dup Panel that also includes the following genes: SLC16A1 SLC2A2 AGL FBP1 G6PC SLC37A4 GAA GBE1 GYS2 PCK1
More info about this panelGlycogen Storage Disease Seq Analysis Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Glycogen Storage Disease Seq Analysis that also includes the following genes: SLC16A1 SLC2A2 AGL FBP1 G6PC SLC37A4 GAA GBE1 GYS2 PCK1
More info about this panelFructose-1,6-bisphosphatase deficiency (sequence analysis of FBP1 gene) Panel
By CGC Genetics
This panel specifically test the FBP1 gene.
More info about this panelGlycogen storage disease (NGS panel for 13 genes) Panel
By CGC Genetics Glycogen storage disease (NGS panel for 13 genes) that also includes the following genes: SLC2A2 AGL FBP1 G6PC SLC37A4 GAA GBE1 GYS2 PCK1 PHKA2
More info about this panelMetabolic Hypoglycemia Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Metabolic Hypoglycemia Sequencing Panel with CNV Detection that also includes the following genes: SLC16A1 SLC2A2 ACSF3 AGL FBP1 G6PC SLC37A4 GALT ALDOB GYS2
More info about this panelFructose-1,6-Bisphosphatase Deficiency via FBP1 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the FBP1 gene.
More info about this panelFructose-1,6-biphosphatase-1 deficiency (FBP1) Panel
By VU University Medical Center Metabolic Unit, PX 1X 009
This panel specifically test the FBP1 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 panelFructose-1,6-bisphosphatase deficiency Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the FBP1 gene.
More info about this panelNuclear encoded Mitochondriopathies Panel Panel
By CeGaT GmbH Nuclear encoded Mitochondriopathies Panel that also includes the following genes: RMRP BCS1L MRPL3 SACS SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panelFructose 1,6 Bisphosphatase Deficiency (FBP1) Panel
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the FBP1 gene.
More info about this panelMitochondrial Diseases (mtDNA and 133 nuclear genes) Panel
By Asper Biogene Asper Biogene LLC Mitochondrial Diseases (mtDNA and 133 nuclear genes) that also includes the following genes: BCS1L SCO1 SCO2 SDHA SLC25A4 SLC6A8 SOD1 SPG7 SUCLA2 SUCLG1
More info about this panelGlycogen Storage Disease Panel
By Asper Biogene Asper Biogene LLC Glycogen Storage Disease that also includes the following genes: SLC2A2 AGL ENO3 FBP1 G6PC SLC37A4 GAA ALDOA GBE1 GYG1
More info about this panelFructose 1,6 Bisphosphatase Deficiency Panel
By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics
This panel specifically test the FBP1 gene.
More info about this panelInvitae Organic Acidemias Panel Panel
By Invitae Invitae Organic Acidemias Panel that also includes the following genes: SLC25A1 BTD SUCLA2 SUCLG1 TAZ MCEE MMAA MMAB L2HGDH SERAC1
More info about this panelInvitae Rare Carbohydrate Disorders Panel Panel
By Invitae Invitae Rare Carbohydrate Disorders Panel that also includes the following genes: SLC5A1 FBP1
More info about this panelInvitae Liver Glycogen Storage Disease Panel Panel
By Invitae Invitae Liver Glycogen Storage Disease Panel that also includes the following genes: SLC2A2 AGL FBP1 G6PC SLC37A4 GBE1 GYS2 PHKA2 PHKB PHKG2
More info about this panelInvitae Comprehensive Glycogen Storage Disease Panel Panel
By Invitae Invitae Comprehensive Glycogen Storage Disease Panel that also includes the following genes: SLC2A2 RBCK1 AGL ENO3 FBP1 G6PC SLC37A4 GAA ALDOA GBE1
More info about this panelFructose-1,6-bisphosphatase deficiency: FBP1 gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the FBP1 gene.
More info about this panelGlycogen Storage Disorders- Liver: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Glycogen Storage Disorders- Liver: Sequencing Panel that also includes the following genes: SLC2A2 AGL FBP1 G6PC SLC37A4 GBE1 GYS2 PHKA2 PHKB PHKG2
More info about this panelGlycogen Storage Disorders: Comprehensive Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Glycogen Storage Disorders: Comprehensive Sequencing Panel that also includes the following genes: SLC2A2 AGL ENO3 FBP1 G6PC SLC37A4 GAA GBE1 GYS1 GYS2
More info about this panelGlycogen Storage Disorders- Liver: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Glycogen Storage Disorders- Liver: Deletion/Duplication Panel that also includes the following genes: SLC2A2 AGL FBP1 G6PC SLC37A4 GBE1 GYS2 PHKA2 PHKB PHKG2
More info about this panelGlycogen Storage Disorders: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Glycogen Storage Disorders: Deletion/Duplication Panel that also includes the following genes: SLC2A2 AGL ENO3 FBP1 G6PC SLC37A4 GAA GBE1 GYS1 GYS2
More info about this panelLactic Acidosis-Pyruvate NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Lactic Acidosis-Pyruvate NGS Panel that also includes the following genes: BCS1L SCO2 SLC25A3 SLC25A4 SUCLA2 SUCLG1 SURF1 TAZ TK2 TSFM
More info about this panelNuclear-Mito NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7
More info about this panelFBP1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the FBP1 gene.
More info about this panelGlycogen Storage Disorder Panel Panel
By Blueprint Genetics Glycogen Storage Disorder Panel that also includes the following genes: SLC2A2 RBCK1 NHLRC1 AGL ENO3 EPM2A FBP1 G6PC SLC37A4 GAA
More info about this panelComprehensive Metabolism Panel Panel
By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
More info about this panelHypoglycemia, Hyperinsulinism and Ketone Metabolism Panel Panel
By Blueprint Genetics Hypoglycemia, Hyperinsulinism and Ketone Metabolism Panel that also includes the following genes: SLC16A1 SLC2A2 HNF1A UCP2 RBCK1 NHLRC1 PTF1A ACSF3 AGL ENO3
More info about this panelFructose-1,6-bisphosphatase deficiency Panel
By Bioarray
This panel specifically test the FBP1 gene.
More info about this panelFRUCTOSE -1,6- BIFOSPHATASE DEFICIENCY Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the FBP1 gene.
More info about this panelFructose 1,6 Diphosphatase Deficiency , Sequencing FBP1 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the FBP1 gene.
More info about this panelHereditary Fructose Intolerance , Panel Massive Sequencing (NGS) ALDOB, FBP1 Genes Panel
By Reference Laboratory Genetics Hereditary Fructose Intolerance , Panel Massive Sequencing (NGS) ALDOB, FBP1 Genes that also includes the following genes: FBP1 ALDOB
More info about this panelStorage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes Panel
By Reference Laboratory Genetics Storage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes that also includes the following genes: SCP2 SGSH SLC17A5 SMPD1 ACOX1 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1
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