Not currently registered for phenotyping at IMPC
Phenotyping is currently not planned for a knockout strain of this gene.
Gene Summary
IMPC Data Collections
- No Body Weight Data
- No Embryo Imaging Data
- No Viability Data
Phenotyping is currently not planned for a knockout strain of this gene.
The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.
Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.
The table below shows human diseases associated to Fbp1 by orthology or direct annotation.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Fructose-1,6-Bisphosphatase Deficiency | Fasting hypoglycemia, Hypoglycemia, Neonatal hypoglycemia | ORPHA:348 | |
Fructose-1,6-Bisphosphatase Deficiency | Hypoglycemia | OMIM:229700 |
The table below shows human diseases predicted to be associated to Fbp1 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency | Hypoglycemia | ORPHA:35701 | |
Glucocorticoid Deficiency 3 | Recurrent hypoglycemia | OMIM:609197 | |
Hyperinsulinemic Hypoglycemia, Familial, 7 | Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia | OMIM:610021 | |
Glycogen Storage Disease 0, Liver | Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia | OMIM:240600 | |
Maturity-Onset Diabetes Of The Young, Type 3 | Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young | OMIM:600496 | |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone | Hypoglycemia | OMIM:223500 | |
Hyperinsulinism Due To Insr Deficiency | Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... | ORPHA:263458 | |
Fructose And Galactose Intolerance | Hypoglycemia | OMIM:229500 | |
Hyperproinsulinemia | Hyperglycemia, Hyperinsulinemia | OMIM:616214 | |
Hyperinsulinemic Hypoglycemia, Familial, 2 | Hypoglycemia, Hyperinsulinemic hypoglycemia | OMIM:601820 | |
Hyperinsulinemic Hypoglycemia, Familial, 3 | Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia | OMIM:602485 | |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial | Impaired gluconeogenesis, Hypoglycemia | OMIM:261650 | |
Maturity-Onset Diabetes Of The Young, Type 10 | Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young | OMIM:613370 | |
Congenital Glucokinase-Related Hyperinsulinism | Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... | ORPHA:79299 | |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy | Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia | OMIM:240900 | |
Short Stature Due To Partial Ghr Deficiency | Hypoglycemia | ORPHA:314802 | |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency | Hypoglycemia | ORPHA:366 | |
Insulin Autoimmune Syndrome | Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... | ORPHA:411593 | |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency | Hypoglycemia | OMIM:609016 | |
Hypoglycemia, Leucine-Induced | Hypoglycemia, Hyperinsulinemic hypoglycemia | OMIM:240800 | |
Pituitary Hormone Deficiency, Combined, 4 | Hypoglycemia | OMIM:262700 | |
Short Stature Due To Ghsr Deficiency | Hypoglycemia | ORPHA:314811 | |
Isolated Growth Hormone Deficiency, Type Ia | Hypoglycemia | OMIM:262400 | |
Dicarboxylic Aminoaciduria | Fasting hypoglycemia | OMIM:222730 | |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 | Hypoglycemia | OMIM:615158 | |
Orthostatic Hypotension 2 | Hypoglycemia | OMIM:618182 | |
3-Methylglutaconic Aciduria Type 1 | Hypoglycemia | ORPHA:67046 | |
Hyperinsulinism Due To Hnf1A Deficiency | Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diabetes of the yo... | ORPHA:324575 | |
Hyperinsulinism-Hyperammonemia Syndrome | Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia | ORPHA:35878 | |
Homozygous 11P15-P14 Deletion Syndrome | Hyperinsulinemia, Hypoglycemia | OMIM:606528 | |
Monocarboxylate Transporter 1 Deficiency | Ketotic hypoglycemia | OMIM:616095 | |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy | Nonketotic hypoglycemia, Neonatal hypoglycemia, Hypoglycemic seizures, Hypoketotic hypoglycemia | ORPHA:293964 | |
Glycogen Storage Disease Vi | Hypoglycemia | OMIM:232700 | |
Glucocorticoid Deficiency 2 | Recurrent hypoglycemia | OMIM:607398 | |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities | Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... | OMIM:262190 | |
Neonatal Hemochromatosis | Hypoglycemia | ORPHA:446 | |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome | Reactive hypoglycemia, Hyperinsulinemia, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyp... | ORPHA:276608 | |
Hyperinsulinemic Hypoglycemia, Familial, 8 | Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures | OMIM:620211 | |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency | Fasting hypoglycemia | ORPHA:171706 | |
Diarrhea 13 | Recurrent hypoglycemia | OMIM:620357 | |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency | Hypoglycemia | OMIM:610090 | |
Ornithine Transcarbamylase Deficiency | Hypoglycemia | ORPHA:664 | |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency | Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemi... | ORPHA:276580 | |
Propionic Acidemia | Hypoglycemia | ORPHA:35 | |
3-Methylcrotonyl-Coa Carboxylase Deficiency | Hypoglycemia | ORPHA:6 | |
Endocardial Fibroelastosis | Hypoglycemia | ORPHA:2022 | |
Mitochondrial Complex Iii Deficiency, Nuclear Type 9 | Hypoglycemia | OMIM:616111 | |
Isobutyryl-Coa Dehydrogenase Deficiency | Ketotic hypoglycemia | ORPHA:79159 | |
Hyperinsulinism Due To Ucp2 Deficiency | Reactive hypoglycemia, Hypoglycemic seizures, Recurrent hypoglycemia, Hyperinsulinemic hypoglycem... | ORPHA:276556 | |
Riboflavin Deficiency | Hypoglycemia | OMIM:615026 | |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency | Hyperinsulinemia, Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Typ... | ORPHA:276575 | |
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay | Recurrent hypoglycemia | OMIM:618158 | |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 | Hypoglycemia, Neonatal hypoglycemia | ORPHA:231140 | |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 | Hypoglycemia | ORPHA:231147 | |
3-Methylglutaconic Aciduria Type 4 | Hypoglycemia | ORPHA:67048 | |
2-Methylbutyryl-Coa Dehydrogenase Deficiency | Hypoglycemia | OMIM:610006 | |
Mitochondrial Pyruvate Carrier Deficiency | Hypoglycemia | OMIM:614741 | |
Diabetes Mellitus, Permanent Neonatal, 4 | Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia | OMIM:618858 | |
Mehmo Syndrome | Hypoglycemia | OMIM:300148 | |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency | Postprandial hyperglycemia, Ketotic hypoglycemia, Glycosuria | ORPHA:2089 | |
Diabetes Mellitus, Transient Neonatal, 3 | Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes | OMIM:610582 | |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency | Hypoglycemia | ORPHA:364 | |
Glycogen Storage Disease Ixb | Hypoglycemia | OMIM:261750 | |
Dihydrolipoamide Dehydrogenase Deficiency | Hypoglycemia | OMIM:246900 | |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 | Hypoglycemia | OMIM:620137 | |
Short Chain Acyl-Coa Dehydrogenase Deficiency | Ketotic hypoglycemia | ORPHA:26792 | |
2P21 Microdeletion Syndrome | Hypoglycemia | ORPHA:163693 | |
Glycogen Storage Disease Iii | Hypoglycemia | OMIM:232400 | |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 | Hypoglycemia | OMIM:619048 | |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency | Hypoglycemia | OMIM:201910 | |
Mitochondrial Complex I Deficiency, Nuclear Type 19 | Hypoglycemia | OMIM:618241 | |
Combined Oxidative Phosphorylation Deficiency 34 | Hypoglycemia | OMIM:617872 | |
Glycogen Storage Disease Ixa1 | Hypoglycemia | OMIM:306000 | |
Hsd10 Mitochondrial Disease | Hypoglycemia | OMIM:300438 | |
Combined Malonic And Methylmalonic Acidemia | Hypoglycemia | ORPHA:289504 | |
Combined Oxidative Phosphorylation Deficiency 36 | Hypoglycemia | OMIM:617950 | |
Mody | Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis,... | ORPHA:552 | |
Insulinoma | Nonketotic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemia, Recur... | ORPHA:97279 | |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome | Hypoglycemia | ORPHA:48431 | |
Hemochromatosis, Neonatal | Hypoglycemia | OMIM:231100 | |
Pyridoxine-Dependent Epilepsy | Hypoglycemia | ORPHA:3006 | |
Acth Deficiency, Isolated | Fasting hypoglycemia | OMIM:201400 | |
Pyruvate Carboxylase Deficiency | Hypoglycemia | OMIM:266150 | |
Proprotein Convertase 1/3 Deficiency | Hypoinsulinemia, Reactive hypoglycemia | OMIM:600955 | |
Combined Oxidative Phosphorylation Deficiency 47 | Hypoglycemia | OMIM:618958 | |
Histidinuria-Renal Tubular Defect Syndrome | Hypoglycemia | ORPHA:2158 | |
Glycogen Storage Disease Ixc | Hypoglycemia, Fasting hypoglycemia | OMIM:613027 | |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 | Hypoglycemia | OMIM:615160 | |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic | Impaired gluconeogenesis, Hypoglycemia, Fasting hypoglycemia | OMIM:261680 | |
Hypoadrenocorticism, Familial | Hypoglycemia | OMIM:240200 | |
Combined Oxidative Phosphorylation Deficiency 52 | Hypoglycemia | OMIM:619386 | |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 | Hypoglycemia | OMIM:618120 | |
Blue Diaper Syndrome | Recurrent hypoglycemia, Increased proinsulin:insulin ratio | ORPHA:94086 | |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency | Hypoglycemia | ORPHA:369 | |
Infantile Liver Failure Syndrome 2 | Hypoglycemia | OMIM:616483 | |
Silver-Russell Syndrome 2 | Neonatal hypoglycemia | OMIM:618905 | |
Glycogen Storage Disease Ixd | Hypoglycemia | OMIM:300559 | |
Combined Oxidative Phosphorylation Deficiency 41 | Hypoglycemia | OMIM:618838 | |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication | Hypoglycemia | ORPHA:231137 | |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency | Hypoglycemia, Hypoketotic hypoglycemia | ORPHA:5 | |
Congenital Hyperinsulinism Due To Hnf4A Deficiency | Hyperinsulinemia, Fasting hypoglycemia, Glycosuria, Hyperinsulinemic hypoglycemia, Neonatal hypog... | ORPHA:263455 | |
Malonyl-Coa Decarboxylase Deficiency | Hypoglycemia | OMIM:248360 | |
Congenital Isolated Acth Deficiency | Neonatal hypoglycemia, Hypoglycemic seizures | ORPHA:199296 | |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency | Recurrent hypoglycemia, Neonatal hypoglycemia, Hyperinsulinemic hypoglycemia | ORPHA:79644 | |
Temple Syndrome | Recurrent hypoglycemia, Type II diabetes mellitus | ORPHA:254516 | |
Pyridoxal Phosphate-Responsive Seizures | Hypoglycemia | ORPHA:79096 | |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome | Hypoglycemia | OMIM:614739 | |
Combined Oxidative Phosphorylation Deficiency 10 | Hypoglycemia | OMIM:614702 | |
Glucocorticoid Resistance, Generalized | Hypoglycemia | OMIM:615962 | |
Pyruvate Dehydrogenase E3 Deficiency | Hypoglycemia | ORPHA:2394 | |
Laron Syndrome | Hypoglycemia | ORPHA:633 | |
Polyendocrine-Polyneuropathy Syndrome | Type II diabetes mellitus, Hypoglycemia, Hypoinsulinemia | ORPHA:453533 | |
Pituitary Hormone Deficiency, Combined, 6 | Hypoglycemia, Neonatal hypoglycemia | OMIM:613986 | |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency | Hypoglycemic seizures, Hypoketotic hypoglycemia | OMIM:231530 | |
Pituitary Hormone Deficiency, Combined, 2 | Neonatal hypoglycemia, Hypoglycemic seizures | OMIM:262600 | |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young | Diabetes mellitus, Hypoglycemia, Glycosuria | OMIM:616026 | |
Carnitine Palmitoyl Transferase 1A Deficiency | Hypoglycemia | ORPHA:156 | |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) | Hypoglycemia | OMIM:245400 | |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of | Hypoglycemia | OMIM:201450 | |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome | Fasting hypoglycemia | ORPHA:436174 | |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile | Hypoketotic hypoglycemia | OMIM:600649 | |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome | Diabetes mellitus, Hypoglycemia | ORPHA:391408 | |
Galactokinase Deficiency | Hyperinsulinemia, Hypoglycemia | ORPHA:79237 | |
Houge-Janssens Syndrome 1 | Hypoglycemia | OMIM:616355 | |
Classic Galactosemia | Hypoglycemia | ORPHA:79239 | |
Medium Chain Acyl-Coa Dehydrogenase Deficiency | Hypoglycemia | ORPHA:42 | |
Mitochondrial Complex I Deficiency, Nuclear Type 33 | Hypoglycemia | OMIM:618253 | |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 | Hyperglycemia, Hypoglycemia | OMIM:615453 | |
Maple Syrup Urine Disease | Hypoglycemia | OMIM:248600 | |
Polyendocrine-Polyneuropathy Syndrome | Type I diabetes mellitus, Hypoglycemia | OMIM:616113 | |
Post-Traumatic Pituitary Deficiency | Hypoglycemia | ORPHA:95619 | |
Solitary Fibrous Tumor | Recurrent hypoglycemia, Hypoglycemia, Hypoinsulinemia | ORPHA:2126 | |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency | Insulin resistance, Hypoglycemia | ORPHA:73272 | |
Carnitine-Acylcarnitine Translocase Deficiency | Hypoglycemia, Neonatal hypoglycemia | OMIM:212138 | |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency | Hypoglycemia | OMIM:614736 | |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures | Hypoglycemia | OMIM:617710 | |
Fructose-1,6-Bisphosphatase Deficiency | Fasting hypoglycemia, Hypoglycemia, Neonatal hypoglycemia | ORPHA:348 | |
Cog8-Cdg | Hypoglycemia | ORPHA:95428 | |
Hsd10 Disease, Infantile Type | Hypoglycemia | ORPHA:391428 | |
Insulin-Resistance Syndrome Type B | Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyperinsulinem... | ORPHA:2298 | |
Donohue Syndrome | Postprandial hyperglycemia, Hyperglycemia, Hyperinsulinemia, Fasting hypoglycemia | OMIM:246200 | |
Aica-Ribosuria Due To Atic Deficiency | Hypoglycemia | OMIM:608688 | |
Carnitine Deficiency, Systemic Primary | Impaired gluconeogenesis, Recurrent hypoglycemia | OMIM:212140 | |
Glucocorticoid Deficiency 1 | Recurrent hypoglycemia | OMIM:202200 | |
Propionic Acidemia | Hypoglycemia | OMIM:606054 | |
Fructose-1,6-Bisphosphatase Deficiency | Hypoglycemia | OMIM:229700 | |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency | Hypoglycemia | OMIM:246450 | |
Timothy Syndrome | Hypoglycemia | OMIM:601005 | |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 | Neonatal hypoglycemia | OMIM:619046 | |
Combined Oxidative Phosphorylation Deficiency 40 | Hypoglycemia | OMIM:618835 | |
Smith-Kingsmore Syndrome | Hypoglycemia | OMIM:616638 | |
Combined Oxidative Phosphorylation Deficiency 42 | Hypoglycemia | OMIM:618839 | |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency | Hypoglycemia | OMIM:210200 | |
Fanconi-Bickel Syndrome | Diabetes mellitus, Impaired glucose tolerance, Fasting hypoglycemia, Glycosuria, Postprandial hyp... | ORPHA:2088 | |
Cholestasis, Progressive Familial Intrahepatic, 5 | Hypoglycemia | OMIM:617049 | |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 | Recurrent hypoglycemia | OMIM:616817 | |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency | Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Neonatal hypoglyc... | ORPHA:71212 | |
Hypotonia-Cystinuria Syndrome | Neonatal hypoglycemia | OMIM:606407 | |
Bachmann-Bupp Syndrome | Hypoglycemia | OMIM:619075 | |
Mitochondrial Complex I Deficiency, Nuclear Type 20 | Hypoglycemia | OMIM:611126 | |
Immunodeficiency, Common Variable, 10 | Hypoglycemia | OMIM:615577 | |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency | Hypoglycemia | OMIM:251000 | |
Basilicata-Akhtar Syndrome | Neonatal hypoglycemia | OMIM:301032 | |
Reni Syndrome | Hypoglycemia | OMIM:617575 | |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 | Hypoglycemia | OMIM:620275 | |
Silver-Russell Syndrome Due To A Point Mutation | Hypoglycemia | ORPHA:397590 | |
Silver-Russell Syndrome 1 | Fasting hypoglycemia | OMIM:180860 | |
Intellectual Developmental Disorder, Autosomal Dominant 45 | Neonatal hypoglycemia | OMIM:617600 | |
Shashi-Pena Syndrome | Hypoglycemia | OMIM:617190 | |
Tenorio Syndrome | Hypoglycemia, Hypoinsulinemia | OMIM:616260 | |
D-Glyceric Aciduria | Hypoglycemia | OMIM:220120 | |
Mitochondrial Trifunctional Protein Deficiency 2 | Hypoglycemia | OMIM:620300 | |
Carnitine Palmitoyltransferase I Deficiency | Hypoketotic hypoglycemia | OMIM:255120 | |
Pituitary Stalk Interruption Syndrome | Hypoglycemia | ORPHA:95496 | |
Dopamine Beta-Hydroxylase Deficiency | Insulin resistance, Hyperinsulinemia, Hypoglycemia | ORPHA:230 | |
Multiple Acyl-Coa Dehydrogenase Deficiency | Hypoglycemia, Glycosuria | OMIM:231680 | |
Glutaric Acidemia I | Hypoglycemia | OMIM:231670 | |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal | Nonketotic hypoglycemia, Hypoglycemia | OMIM:608836 | |
Congenital Disorder Of Glycosylation, Type Ig | Hypoglycemia | OMIM:607143 | |
Beta-Ketothiolase Deficiency | Hyperglycemia, Hypoglycemia | ORPHA:134 | |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 | Hypoglycemia, Neonatal hypoglycemia | OMIM:619055 | |
Multiple Acyl-Coa Dehydrogenase Deficiency | Hypoglycemia | ORPHA:26791 | |
Carnitine-Acylcarnitine Translocase Deficiency | Fasting hypoglycemia, Hypoketotic hypoglycemia | ORPHA:159 | |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome | Hypoglycemia, Hypoglycemic seizures | ORPHA:480864 | |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency | Recurrent hypoglycemia, Ketotic hypoglycemia, Fasting hypoglycemia | ORPHA:79240 | |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 | Hypoglycemia | OMIM:619355 | |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency | Hypoglycemia, Fasting hypoglycemia | ORPHA:264580 | |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome | Hypoglycemia | ORPHA:457279 | |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of | Nonketotic hypoglycemia | OMIM:201475 | |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome | Neonatal hypoglycemia | ORPHA:457485 | |
Pancreatic And Cerebellar Agenesis | Hyperglycemia, Diabetes mellitus, Hypoglycemia | OMIM:609069 | |
Rabson-Mendenhall Syndrome | Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe... | ORPHA:769 | |
Glycogen Storage Disease Ia | Hypoglycemia, Fasting hypoglycemia | OMIM:232200 | |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia | Neonatal hypoglycemia | OMIM:608624 | |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency | Hypoglycemia | OMIM:210210 | |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form | Hypoketotic hypoglycemia | ORPHA:228305 | |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures | Hypoglycemia | OMIM:620224 | |
Mirage Syndrome | Hypoglycemia | OMIM:617053 | |
Combined Oxidative Phosphorylation Defect Type 39 | Neonatal hypoglycemia | ORPHA:565624 | |
Combined Oxidative Phosphorylation Deficiency 37 | Hypoglycemia | OMIM:618329 | |
Orthostatic Hypotension 1 | Neonatal hypoglycemia | OMIM:223360 | |
Congenital Disorder Of Glycosylation, Type Iie | Hypoglycemia | OMIM:608779 | |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy | Hypoglycemia | OMIM:617093 | |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 | Hypoglycemia | OMIM:618005 | |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration | Hypoglycemia | OMIM:616878 | |
Sotos Syndrome | Glucose intolerance, Neonatal hypoglycemia | OMIM:117550 | |
Leigh Syndrome | Hypoglycemia | ORPHA:506 | |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) | Hypoglycemia | OMIM:251880 | |
Silver-Russell Syndrome | Insulin resistance, Recurrent hypoglycemia | ORPHA:813 | |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia | Hypoglycemia | OMIM:616007 | |
Isolated Complex I Deficiency | Diabetes mellitus, Hypoglycemia | ORPHA:2609 | |
Late-Onset Isolated Acth Deficiency | Type I diabetes mellitus, Hypoglycemia | ORPHA:199299 | |
Mitochondrial Trifunctional Protein Deficiency 1 | Hypoketotic hypoglycemia | OMIM:609015 | |
3-Methylglutaconic Aciduria Type 7 | Neonatal hypoglycemia | ORPHA:445038 | |
Cerebral Visual Impairment | Neonatal hypoglycemia | ORPHA:447788 | |
Congenital Disorder Of Glycosylation, Type It | Hypoglycemia | OMIM:614921 | |
Immunodeficiency 59 And Hypoglycemia | Hypoglycemia | OMIM:233600 | |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To | Hypoglycemia | OMIM:615751 | |
Acyl-Coa Dehydrogenase 9 Deficiency | Nonketotic hypoglycemia | ORPHA:99901 | |
Fanconi-Bickel Syndrome | Postprandial hyperglycemia, Fasting hypoglycemia, Glycosuria | OMIM:227810 | |
X-Linked Dominant Chondrodysplasia Punctata | Neonatal hypoglycemia | ORPHA:35173 | |
Oculodentodigital Dysplasia | Hypoglycemia | ORPHA:2710 | |
Congenital Disorder Of Glycosylation, Type Im | Hypoketotic hypoglycemia | OMIM:610768 | |
Cholera | Hypoglycemia | ORPHA:173 | |
Pituitary Apoplexy | Hypoglycemia | ORPHA:95613 | |
Familial Glucocorticoid Deficiency | Ketotic hypoglycemia, Hypoglycemic seizures | ORPHA:361 | |
3-Methylglutaconic Aciduria, Type Viib | Neonatal hypoglycemia | OMIM:616271 | |
Dilated Cardiomyopathy With Ataxia | Neonatal hypoglycemia | ORPHA:66634 | |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures | Hypoglycemia | OMIM:614501 | |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) | Recurrent hypoglycemia, Hypoglycemia | OMIM:256810 | |
Bannayan-Riley-Ruvalcaba Syndrome | Hypoglycemia | ORPHA:109 | |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency | Hypoglycemia | ORPHA:90790 | |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 | Hypoglycemia, Neonatal hypoglycemia | OMIM:619418 | |
3-Hydroxy-3-Methylglutaric Aciduria | Nonketotic hypoglycemia, Recurrent hypoglycemia | ORPHA:20 | |
Wars2-Related Combined Oxidative Phosphorylation Defect | Neonatal hypoglycemia | ORPHA:572798 | |
Mitochondrial Trifunctional Protein Deficiency | Hypoketotic hypoglycemia | ORPHA:746 | |
Pyruvate Carboxylase Deficiency | Hyperglycemia, Hypoglycemia | ORPHA:3008 | |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency | Hypoketotic hypoglycemia | ORPHA:26793 | |
Kabuki Syndrome 2 | Neonatal hypoglycemia | OMIM:300867 | |
Sheehan Syndrome | Hypoglycemia | ORPHA:91355 | |
Holoprosencephaly | Diabetes mellitus, Hypoglycemia | ORPHA:2162 | |
Shigellosis | Hypoglycemia | ORPHA:810 | |
Glycogen Storage Disease Ib | Hypoglycemia | OMIM:232220 | |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria | Hypoglycemia | ORPHA:17 | |
Multiple Endocrine Neoplasia, Type I | Hypoglycemia | OMIM:131100 | |
Glutaryl-Coa Dehydrogenase Deficiency | Fasting hypoglycemia | ORPHA:25 | |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies | Hypoglycemia | OMIM:301066 | |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 | Recurrent hypoglycemia, Hypoglycemia, Hyperglycemia | OMIM:124000 | |
Renal Agenesis, Bilateral | Nonketotic hypoglycemia | ORPHA:1848 | |
Alg12-Cdg | Recurrent hypoglycemia | ORPHA:79324 | |
Methylmalonic Acidemia With Homocystinuria, Type Cblc | Hypoglycemia | ORPHA:79282 | |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency | Neonatal hypoglycemia | ORPHA:90791 | |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) | Hypoglycemia | OMIM:617156 | |
Carnitine Palmitoyltransferase Ii Deficiency | Hypoketotic hypoglycemia | ORPHA:157 | |
Acute Adrenal Insufficiency | Hypoglycemia | ORPHA:95409 | |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 | Insulin resistance, Fasting hypoglycemia | ORPHA:96182 | |
Perlman Syndrome | Hypoglycemia | OMIM:267000 | |
Mitochondrial Complex I Deficiency, Nuclear Type 1 | Hypoglycemia | OMIM:252010 | |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib | Hypoglycemia, Hypoglycemic seizures | ORPHA:79259 | |
Leprechaunism | Insulin resistance, Hyperinsulinemia, Recurrent infantile hypoglycemia, Fasting hypoglycemia, Pos... | ORPHA:508 | |
Hereditary Fructose Intolerance | Reactive hypoglycemia | ORPHA:469 | |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form | Hypoketotic hypoglycemia | ORPHA:228308 | |
Histiocytoid Cardiomyopathy | Hypoglycemia | ORPHA:137675 | |
Generalized Glucocorticoid Resistance Syndrome | Hypoglycemia | ORPHA:786 | |
Menkes Disease | Hypoglycemia | ORPHA:565 | |
Addison Disease | Type I diabetes mellitus, Hypoglycemia | ORPHA:85138 | |
Glycerol Kinase Deficiency | Hypoglycemia | OMIM:307030 | |
Tyrosinemia, Type I | Hypoglycemia | OMIM:276700 | |
Glycogen Storage Disease Ic | Hypoglycemia | OMIM:232240 | |
Primary Fanconi Renotubular Syndrome | Hypoglycemia, Glycosuria | ORPHA:3337 | |
Fructose Intolerance, Hereditary | Hypoglycemia, Glycosuria | OMIM:229600 | |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function | Hypoglycemia | ORPHA:226307 | |
Simpson-Golabi-Behmel Syndrome | Hypoglycemia | ORPHA:373 | |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome | Recurrent hypoglycemia | ORPHA:293978 | |
Rajab Interstitial Lung Disease With Brain Calcifications 1 | Hypoglycemia | OMIM:613658 | |
Deeah Syndrome | Neonatal hypoglycemia | OMIM:619004 | |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency | Neonatal hypoglycemia | ORPHA:168558 | |
Glycogen Storage Disease Of Heart, Lethal Congenital | Neonatal hypoglycemia | OMIM:261740 | |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency | Neonatal hypoglycemia | ORPHA:289548 | |
Beckwith-Wiedemann Syndrome | Hypoglycemia, Neonatal hypoglycemia | ORPHA:116 | |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 | Hyperglycemia, Hypoglycemia | OMIM:220111 | |
Costello Syndrome | Hypoglycemia | OMIM:218040 | |
Marburg Hemorrhagic Fever | Hypoglycemia | ORPHA:99826 | |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome | Neonatal hypoglycemia | ORPHA:457359 | |
Neurooculorenal Syndrome | Recurrent hypoglycemia | OMIM:620305 | |
Acute Liver Failure | Hypoglycemia | ORPHA:90062 | |
3-Methylglutaconic Aciduria, Type Viii | Neonatal hypoglycemia | OMIM:617248 | |
Non-Acquired Panhypopituitarism | Hypoglycemia | ORPHA:90695 | |
Holoprosencephaly 1 | Hypoglycemia | OMIM:236100 | |
Beckwith-Wiedemann Syndrome | Neonatal hypoglycemia | OMIM:130650 | |
Combined Pituitary Hormone Deficiencies, Genetic Forms | Hypoglycemia | ORPHA:95494 | |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis | Hypoglycemia | OMIM:201750 | |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency | Neonatal hypoglycemia | ORPHA:90794 | |
Sotos Syndrome | Neonatal hypoglycemia | ORPHA:821 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Fbp1tm436505(L1L2_GT2_LF2A_LacZ_BetactP_neo) | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors |
Fbp1tm1e(EUCOMM)Hmgu | Targeted, non-conditional allele | ES Cells |
Fbp1tm1a(EUCOMM)Hmgu | KO first allele (reporter-tagged insertion with conditional potential) | Mice, Targeting vectors, ES Cells |
Fbp1tm1(KOMP)Mbp | Reporter-tagged deletion allele (with selection cassette) | Targeting vectors, ES Cells |
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