Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
eukaryotic translation initiation factor 4E binding protein 1
Synonyms:
4e-bp1,  PHAS-I

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Eif4ebp1 mutations

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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Eif4ebp1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Hypoglycemic seizures, Neonatal hypoglycemia, Nonketotic hypoglycemia,... ORPHA:293964
Short Stature Due To Ghsr Deficiency
Hypoglycemia, Decreased body weight, Abnormality of body weight, Decreased serum insulin-like gro... ORPHA:314811
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Short Stature Due To Partial Ghr Deficiency
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 ORPHA:314802
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Obesity, Increased circulating T4 level, Decreased circulating free T3, Abn... ORPHA:171706
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Truncal obesity OMIM:240900
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Insulin resistance, Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin... ORPHA:411593
Isolated Growth Hormone Deficiency, Type Ia
Decreased response to growth hormone stimulation test, Hypoglycemia, Impaired growth-hormone resp... OMIM:262400
Hyperinsulinism Due To Glucokinase Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Hypoglycemia OMIM:617950
Hyperinsulinism Due To Hnf1A Deficiency
Large for gestational age, Ketotic hypoglycemia, Hypoglycemic seizures, Neonatal hypoglycemia, Ex... ORPHA:324575
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Hypothyroidism, Hypoglycemia, Impaired growth-hormone response to insulin ... OMIM:262700
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Akt2-Related Familial Partial Lipodystrophy
Lipodystrophy, Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellit... ORPHA:79085
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Growth Hormone Insensitivity Syndrome
Hypoglycemia, Diabetes insipidus, Insulin resistance, Truncal obesity, Failure to thrive, Diabete... ORPHA:181393
Lipodystrophy, Familial Partial, Type 5
Lipodystrophy, Diabetic ketoacidosis, Decreased serum leptin, Decreased adiponectin level OMIM:615238
Lipe-Related Familial Partial Lipodystrophy
Lipodystrophy, Insulin resistance, Loss of gluteal subcutaneous adipose tissue, Loss of subcutane... ORPHA:435660
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Polyendocrine-Polyneuropathy Syndrome
Hypogonadism, Hypoglycemia, Central hypothyroidism OMIM:616113
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Cidec-Related Familial Partial Lipodystrophy
Lipodystrophy, Loss of gluteal subcutaneous adipose tissue, Loss of subcutaneous adipose tissue i... ORPHA:435651
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Loss of gluteal subcutaneous adipose tissue, Increased subcutaneous truncal adipos... OMIM:608600
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia,... ORPHA:276608
Glycogen Storage Disease Vi
Hypoglycemia, Failure to thrive in infancy OMIM:232700
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Failure to thrive, Hypoglycemia OMIM:610090
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Hypoglycemia, Fasting hypoglycemia, Small for gestational age, Hyperinsuli... OMIM:262190
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin respons... ORPHA:276580
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia OMIM:615158
3-Methylglutaconic Aciduria Type 1
Failure to thrive, Hypoglycemia ORPHA:67046
Mehmo Syndrome
Hypoglycemia, Small for gestational age, Delayed puberty, Obesity, Male hypogonadism, Decreased r... OMIM:300148
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:609016
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin respons... ORPHA:276575
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Primary adrenal insufficiency, Hypoglycemia, Hypogonadism OMIM:617872
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Hypoglycemic seizures, Excessive insulin response to glucagon test, Re... ORPHA:276556
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Neonatal hypoglycemia, Decreased body weight, Hypoglycemia, Small for gestational age ORPHA:231140
Combined Oxidative Phosphorylation Deficiency 10
Failure to thrive, Hypoglycemia, Small for gestational age OMIM:614702
Glycogen Storage Disease Ixa1
Hypoglycemia OMIM:306000
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Reduced subcutaneous adipose tissue, Failure to thrive, Diabetes mellitus, Hypergly... OMIM:609069
Congenital Disorder Of Glycosylation, Type Im
Failure to thrive, Hypoketotic hypoglycemia OMIM:610768
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Adipose tissue loss, S... OMIM:246200
Endocardial Fibroelastosis
Hypoglycemia, Anterior hypopituitarism ORPHA:2022
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Hypoglycemia, Small for gestational age ORPHA:231147
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia ORPHA:35878
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Multiple pancreatic beta-cell adenomas, Neonatal hypoglycemia, Abnorma... ORPHA:79644
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Hypoglycemia ORPHA:67048
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Insulinoma
Nonketotic hypoglycemia, Hyperinsulinemia, Pituitary prolactin cell adenoma, Recurrent hypoglycem... ORPHA:97279
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Hypothyroidism, Neonatal hypoglycemia, Hypoglycemic seizures, Panhypopitui... OMIM:262600
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Hypothyroidism, Decreased body weight, Hypoglycemia, Small for gestational age, Dorsocervical fat... ORPHA:391408
2P21 Microdeletion Syndrome
Failure to thrive, Hypoglycemia, Hypogonadism ORPHA:163693
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia, Failure to thrive in infancy ORPHA:6
Glucocorticoid Deficiency 1
Failure to thrive, Decreased circulating cortisol level, Increased circulating ACTH level, Recurr... OMIM:202200
Insulin-Resistance Syndrome Type B
Glycosuria, Diabetic ketoacidosis, Decreased body weight, Weight loss, Fasting hypoglycemia, Hype... ORPHA:2298
Neonatal Hemochromatosis
Hypoglycemia ORPHA:446
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Camptodactyly of finger, Hypogonadotropic hypogonadism, Hypoglycemia ORPHA:48431
Shashi-Pena Syndrome
Hypoglycemia OMIM:617190
Glycerol Kinase Deficiency
Small for gestational age, Adrenal insufficiency, Hypoglycemia, Adrenocortical hypoplasia OMIM:307030
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum estradiol, Hypergon... ORPHA:66628
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Failure to thrive ORPHA:26792
Multiple Endocrine Neoplasia, Type I
Subcutaneous lipoma, Hypoglycemia, Thyroid adenoma, Pituitary prolactin cell adenoma, Parathyroid... OMIM:131100
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Obesity, Hypogonadism OMIM:614962
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Hypoglycemia OMIM:617156
Temple Syndrome
Small for gestational age, Recurrent hypoglycemia, Obesity, Precocious puberty, Type II diabetes ... ORPHA:254516
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Hypoglycemia OMIM:619048
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum estradiol, Obesity,... ORPHA:179494
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Lipodystrophy, Minimal subcutaneous fat, Insulin resistance, Increased facial adipose tissue, Los... ORPHA:280365
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Failure to thrive, Precocious puberty, Hypoglycemia, Congenital hypothyroidism OMIM:614736
Post-Traumatic Pituitary Deficiency
Central diabetes insipidus, Hypogonadotropic hypogonadism, Hypoglycemia, Panhypopituitarism, Decr... ORPHA:95619
Combined Malonic And Methylmalonic Acidemia
Failure to thrive, Hypoglycemia ORPHA:289504
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Failure to thrive, Delayed puberty, Hypoglycemia ORPHA:369
Mody
Large for gestational age, Glycosuria, Neonatal hypoglycemia, Obesity, Overweight, Insulin-resist... ORPHA:552
Combined Oxidative Phosphorylation Deficiency 47
Failure to thrive, Hypoglycemia OMIM:618958
Glucocorticoid Deficiency 2
Recurrent hypoglycemia, Decreased circulating cortisol level, Increased circulating ACTH level OMIM:607398
Carnitine Deficiency, Systemic Primary
Recurrent hypoglycemia, Failure to thrive, Hypoglycemia, Impaired gluconeogenesis OMIM:212140
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Hypoglycemia, Decreased circulating follicle stimulating hormone c... ORPHA:453533
Hypoadrenocorticism, Familial
Cyanosis, Adrenal insufficiency, Hypoglycemia, Adrenal hypoplasia OMIM:240200
Blue Diaper Syndrome
Recurrent hypoglycemia, Decreased circulating T4 level, Elevated circulating thyroid-stimulating ... ORPHA:94086
Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Glycosuria, Neonatal hypoglycemia, Fasting hypoglycemia, Hyperinsuline... ORPHA:263455
Galactokinase Deficiency
Hypoglycemia, Small for gestational age, Hyperinsulinemia, Failure to thrive, Hypergonadotropic h... ORPHA:79237
Laron Syndrome
Delayed puberty, Abnormality of the endocrine system, Hypoglycemia, Truncal obesity ORPHA:633
Mitochondrial Pyruvate Carrier Deficiency
Hypoglycemia OMIM:614741
Silver-Russell Syndrome Due To A Point Mutation
Inguinal hernia, Hypothyroidism, Hypoglycemia, Small for gestational age ORPHA:397590
Pituitary Stalk Interruption Syndrome
Hypothyroidism, Hypoglycemia, Abnormality of the hypothalamus-pituitary axis, Diabetes insipidus,... ORPHA:95496
Dihydrolipoamide Dehydrogenase Deficiency
Hypoglycemia OMIM:246900
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hypoglycemia, Small for gestational age OMIM:615160
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Hypoglycemia, Small for gestational age ORPHA:231137
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypoglycemia, Insulin resistance, Small for gestational age, Truncal obesity, Failure to thrive, ... ORPHA:73272
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Hypoglycemia, Cachexia ORPHA:42
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Hypoglycemia OMIM:619386
Smith-Kingsmore Syndrome
Large for gestational age, Umbilical hernia, Hypoglycemia OMIM:616638
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Failure to thrive, Hypoglycemia, Hyperglycemia OMIM:220111
Pyridoxal Phosphate-Responsive Seizures
Failure to thrive, Hypoglycemia ORPHA:79096
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Failure to thrive, Ketotic hypoglycemia, Postprandial hyperglycemia ORPHA:2089
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Obesity, Reactive hypoglycemia OMIM:600955
Pyridoxine-Dependent Epilepsy
Hypoglycemia ORPHA:3006
Glycogen Storage Disease Iii
Hypoglycemia OMIM:232400
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Hypoglycemia OMIM:201910
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Fasting hypoglycemia, Hypoglycemia, Impaired gluconeogenesis OMIM:261680
Hsd10 Mitochondrial Disease
Hypoglycemia OMIM:300438
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia ORPHA:79159
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Failure to thrive, Hypoglycemia OMIM:614739
Propionic Acidemia
Hypoglycemia ORPHA:35
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Pyruvate Dehydrogenase E3 Deficiency
Failure to thrive, Hypoglycemia ORPHA:2394
Hypotonia-Cystinuria Syndrome
Neonatal hypoglycemia, Failure to thrive, Decreased response to growth hormone stimulation test, ... OMIM:606407
Familial Glucocorticoid Deficiency
Ketotic hypoglycemia, Adrenal insufficiency, Hypoglycemic seizures, Decreased circulating dehydro... ORPHA:361
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Failure to thrive, Hypoglycemia OMIM:256810
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Failure to thrive, Hypoglycemia OMIM:245400
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Failure to thrive, Hypoglycemia ORPHA:5
Rabson-Mendenhall Syndrome
Diabetic ketoacidosis, Hypothyroidism, Fasting hypoglycemia, Insulin resistance, Increased pineal... ORPHA:769
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypogonadotropic hypogonadism, Hypoglycemia, Decreased circulating follicle stimulating hormone c... ORPHA:226307
Lipodystrophy, Congenital Generalized, Type 1
Lipodystrophy, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Insulin-resistant diabete... OMIM:608594
Glucocorticoid Resistance, Generalized
Hypoglycemia OMIM:615962
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:610006
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating androstenedione concentration, Adrenocorticotropic hormone excess, Neonatal... ORPHA:90791
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Decreased circulating cortisol level, Adrenal hypop... ORPHA:199296
Classic Galactosemia
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 ORPHA:79239
Solitary Fibrous Tumor/Hemangiopericytoma
Recurrent hypoglycemia, Hypoglycemia, Weight loss, Hypoinsulinemia ORPHA:2126
Acth Deficiency, Isolated
Decreased circulating cortisol level, Fasting hypoglycemia, Adrenal hypoplasia, Adrenocorticotrop... OMIM:201400
Hemochromatosis, Neonatal
Hypoglycemia OMIM:231100
Ornithine Transcarbamylase Deficiency
Hypoglycemia ORPHA:664
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Recurrent hypoglycemia, Hypothyroidism, Delayed puberty, Small for gestational age OMIM:616817
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypoglycemia OMIM:618253
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Failure to thrive, Hypothyroidism, Hypoglycemia, Flexion contracture OMIM:618005
Lipodystrophy, Congenital Generalized, Type 2
Lipodystrophy, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Insulin-resistant diabete... OMIM:269700
Late-Onset Isolated Acth Deficiency
Hypoglycemia, Weight loss, Hashimoto thyroiditis, Graves disease, Decreased circulating cortisol ... ORPHA:199299
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hypoglycemia OMIM:618120
Timothy Syndrome
Hypothyroidism, Hypoglycemia OMIM:601005
Pyruvate Carboxylase Deficiency
Hypoglycemia OMIM:266150
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hypoglycemia, Decreased circulating cortisol level, Abnormal circulating androgen level, Failure ... ORPHA:90790
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia ORPHA:364
Bannayan-Riley-Ruvalcaba Syndrome
Hypoglycemia, Hashimoto thyroiditis, Neoplasm of the adrenal cortex, Lipoma, Cachexia, Thyroid ca... ORPHA:109
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia OMIM:618838
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Fasting hypoglycemia, Decreased response to growth hormone stimulation test ORPHA:436174
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Large for gestational age, Hypoglycemia, Diabetes mellitus, Glycosuria OMIM:616026
Hsd10 Disease, Infantile Type
Cyanosis, Hypoglycemia ORPHA:391428
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Failure to thrive, Neonatal hypoglycemia OMIM:619046
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal size of pituitary gland, Decreased circulating androgen concentration, Decreased circula... ORPHA:293978
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Hypothyroidism, Hypoglycemia, Hypogonadism OMIM:617575
Cog8-Cdg
Failure to thrive, Hypoglycemia ORPHA:95428
Sheehan Syndrome
Central diabetes insipidus, Gonadotropin deficiency, Abnormal size of pituitary gland, Hypoglycem... ORPHA:91355
Immunodeficiency, Common Variable, 10
Hypoglycemia, Decreased response to growth hormone stimulation test, Central adrenal insufficienc... OMIM:615577
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Failure to thrive, Hypoglycemia OMIM:210200
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Failure to thrive, Fasting hyperinsulinemia, Hypoke... ORPHA:71212
Silver-Russell Syndrome 2
Neonatal hypoglycemia OMIM:618905
Leprechaunism
Decreased body weight, Fasting hypoglycemia, Insulin resistance, Hyperinsulinemia, Central hypoth... ORPHA:508
Fanconi-Bickel Syndrome
Glycosuria, Fasting hypoglycemia, Failure to thrive, Diabetes mellitus, Postprandial hyperglycemi... ORPHA:2088
Atypical Werner Syndrome
Glycosuria, Decreased body weight, Hyperinsulinemia, Generalized lipodystrophy, Lipoatrophy, Hype... ORPHA:79474
Silver-Russell Syndrome 1
Fasting hypoglycemia, Decreased response to growth hormone stimulation test, Small for gestationa... OMIM:180860
Acute Adrenal Insufficiency
Primary adrenal insufficiency, Hypoglycemia, Increased circulating renin level, Decreased circula... ORPHA:95409
Malonyl-Coa Decarboxylase Deficiency
Hypoglycemia OMIM:248360
Propionic Acidemia
Failure to thrive, Hypoglycemia OMIM:606054
Pituitary Apoplexy
Central diabetes insipidus, Hypoglycemia, Hypopituitarism, Hypergonadotropic hypogonadism, Increa... ORPHA:95613
Addison Disease
Primary adrenal insufficiency, Weight loss, Hypoglycemia, Increased circulating renin level, Hash... ORPHA:85138
Bachmann-Bupp Syndrome
Large for gestational age, Hypoglycemia OMIM:619075
Bannayan-Riley-Ruvalcaba syndrome
Hashimoto thyroiditis, Hypoglycemia, Lipoma, Multiple lipomas OMIM:153480
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Failure to thrive, Hypoglycemia OMIM:251880
Silver-Russell Syndrome
Insulin resistance, Failure to thrive in infancy, Recurrent hypoglycemia, Obesity, Precocious pub... ORPHA:813
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity, Hypoglycemia OMIM:608624
Intellectual Developmental Disorder, Autosomal Dominant 35
Hypoglycemia OMIM:616355
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Hypoglycemia OMIM:613027
Nestor-Guillermo Progeria Syndrome
Decreased serum leptin, Failure to thrive, Flexion contracture, Lipoatrophy OMIM:614008
Glutaric Acidemia I
Failure to thrive, Hypoglycemia OMIM:231670
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Hypoglycemia, Failure to thrive, Delayed puberty, Increased body weight ORPHA:264580
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Hypoglycemia OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Hypoglycemia OMIM:618839
Carnitine Palmitoyl Transferase 1A Deficiency
Hypoglycemia ORPHA:156
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elbow flexion contracture, Hypoglycemia, Nonketotic hypoglycemia, Knee flexion contracture OMIM:608836
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Increased circulating progesterone, Hypogona... ORPHA:90794
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Neonatal hypoglycemia, Failure to thrive, Hypoglycemia, Small for gestational age OMIM:619055
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Cholestasis, Progressive Familial Intrahepatic, 5
Failure to thrive, Hypoglycemia OMIM:617049
Alg12-Cdg
Recurrent hypoglycemia, Abnormal adipose tissue morphology, Failure to thrive, Decreased serum in... ORPHA:79324
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hypoglycemia, Hypoglycemia, Fasting hypoglycemia ORPHA:348
Infantile Liver Failure Syndrome 2
Hypoglycemia OMIM:616483
Generalized Glucocorticoid Resistance Syndrome
Hypoglycemia, Increased urinary cortisol level, Decreased circulating aldosterone level, Abnormal... ORPHA:786
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia OMIM:618241
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hypoglycemia OMIM:246450
Mirage Syndrome
Adrenal insufficiency, Hypergonadotropic hypogonadism, Hypoglycemia, Decreased body weight OMIM:617053
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Adrenocorticotropic hormone excess, Primary adrenal insufficiency, Neonatal hypoglycemia, Increas... ORPHA:289548
Beta-Ketothiolase Deficiency
Hypoglycemia, Hyperglycemia, Weight loss ORPHA:134
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Hypoglycemia, Contracture of the proximal interphalangeal joint of the 4th toe ORPHA:457279
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Adrenocorticotropic hormone excess, Primary adrenal insufficiency, Neonatal hypoglycemia, Increas... ORPHA:168558
Carnitine-Acylcarnitine Translocase Deficiency
Neonatal hypoglycemia, Hypoglycemia OMIM:212138
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive, Hypoketotic hypoglycemia, Small for gestational age OMIM:609015
Combined Oxidative Phosphorylation Defect Type 39
Congenital foot contractures, Neonatal hypoglycemia ORPHA:565624
Leigh Syndrome
Failure to thrive, Hypoglycemia, Multiple joint contractures ORPHA:506
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Failure to thrive, Hypoglycemia OMIM:210210
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hypoketotic hypoglycemia OMIM:231530
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hypoglycemia OMIM:201450
X-Linked Dominant Chondrodysplasia Punctata
Scarring alopecia of scalp, Neonatal hypoglycemia, Flexion contracture ORPHA:35173
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Obesity, Umbilical hernia, Precocious puberty, Hypoglycemia OMIM:301066
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Hypoglycemia OMIM:617710
Maple Syrup Urine Disease
Hypoglycemia OMIM:248600
Holoprosencephaly
Hypoglycemia, Diabetes insipidus, Failure to thrive in infancy, Panhypopituitarism, Anterior hypo... ORPHA:2162
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoglycemia OMIM:615751
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Large for gestational age, Neonatal hypoglycemia ORPHA:457485
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Hypoketotic hypoglycemia, Fasting hypoglycemia ORPHA:159
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hypoketotic hypoglycemia OMIM:600649
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemia ORPHA:230
Isolated Complex I Deficiency
Failure to thrive, Hypoglycemia, Diabetes mellitus ORPHA:2609
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Failure to thrive, Hypoglycemia OMIM:124000
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hypoglycemia OMIM:611126
Multiple Acyl-Coa Dehydrogenase Deficiency
Glycosuria, Hypoglycemia OMIM:231680
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Ketotic hypoglycemia, Recurrent hypoglycemia, Fasting hypoglycemia, Increased body weight ORPHA:79240
Sotos Syndrome
Glucose intolerance, Neonatal hypoglycemia, Increased body weight OMIM:117550
Congenital Disorder Of Glycosylation, Type Iie
Failure to thrive, Hypoglycemia OMIM:608779
Menkes Disease
Hypoglycemia, Atypical scarring of skin, Hernia, Inguinal hernia, Chondrocalcinosis, Umbilical he... ORPHA:565
Carnitine Palmitoyltransferase I Deficiency
Hypoketotic hypoglycemia OMIM:255120
Combined Oxidative Phosphorylation Deficiency 37
Failure to thrive, Hypoglycemia OMIM:618329
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Compensated hypothyroidism, Hypoglycemic seizures, Hypoglycemia ORPHA:480864
Rett Syndrome
Failure to thrive, Increased serum leptin ORPHA:778
Congenital Disorder Of Glycosylation, Type It
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 OMIM:614921
Multiple Acyl-Coa Dehydrogenase Deficiency
Hypoglycemia ORPHA:26791
Oculodentodigital Dysplasia
Camptodactyly of finger, Umbilical hernia, Abnormal dental enamel morphology, Hypoglycemia ORPHA:2710
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Premature thelarche, Hypothyroidism, Hypoglycemia, Premature pubarche OMIM:616878
Mitochondrial Trifunctional Protein Deficiency
Hypoketotic hypoglycemia, Hypoparathyroidism, Failure to thrive in infancy ORPHA:746
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Fasting hypoglycemia, Insulin resistance, Small for gestational age, Failure to thrive, Precociou... ORPHA:96182
Non-Acquired Panhypopituitarism
Hypogonadotropic hypogonadism, Ectopic anterior pituitary gland, Hypoglycemia, Delayed puberty, A... ORPHA:90695
Acyl-Coa Dehydrogenase 9 Deficiency
Failure to thrive, Nonketotic hypoglycemia ORPHA:99901
Fructose-1,6-Bisphosphatase Deficiency
Hypoglycemia OMIM:229700
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Overweight, Obesity, Small for gestational age ORPHA:26793
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Failure to thrive, Hypoglycemia, Flexion contracture ORPHA:17
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Failure to thrive, Delayed puberty ORPHA:370
3-Methylglutaconic Aciduria Type 7
Hypothyroidism, Neonatal hypoglycemia ORPHA:445038
Beckwith-Wiedemann Syndrome
Large for gestational age, Hypothyroidism, Hypoglycemia, Pseudohypoparathyroidism, Neonatal hypog... ORPHA:116
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Neonatal hypoglycemia, Failure to thrive, Hypoglycemia, Failure to thrive in infancy OMIM:619418
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Hypoglycemia OMIM:619355
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoglycemia, Small for gestational age, Slender build, Inguinal hernia, Failure to thrive OMIM:613658
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia OMIM:201475
Orthostatic Hypotension 1
Neonatal hypoglycemia OMIM:223360
Pyruvate Carboxylase Deficiency
Failure to thrive, Hypoglycemia, Hyperglycemia ORPHA:3008
Hutchinson-Gilford Progeria Syndrome
Cyanosis, Female hypogonadism, Insulin resistance, Severe failure to thrive, Absence of subcutane... ORPHA:740
Kabuki Syndrome 2
Neonatal hypoglycemia, Decreased body weight OMIM:300867
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cyanosis, Failure to thrive, Hypoglycemia OMIM:252010
3-Hydroxy-3-Methylglutaric Aciduria
Recurrent hypoglycemia, Nonketotic hypoglycemia, Weight loss ORPHA:20
Dilated Cardiomyopathy With Ataxia
Hypothyroidism, Neonatal hypoglycemia ORPHA:66634
Shigellosis
Hypoglycemia, Failure to thrive in infancy ORPHA:810
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Neonatal hypoglycemia OMIM:261740
Simpson-Golabi-Behmel Syndrome
Hypoglycemia, Pancreatic islet-cell hyperplasia, Congenital diaphragmatic hernia, Inguinal hernia... ORPHA:373
Deeah Syndrome
Decreased body weight, Neonatal hypoglycemia, Anterior pituitary hypoplasia, Panhypopituitarism, ... OMIM:619004
Cerebral Visual Impairment
Neonatal hypoglycemia ORPHA:447788
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hypoketotic hypoglycemia ORPHA:228305
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypothyroidism, Hypoglycemia, Hypoglycemic seizures, Thyroiditis, Failure to thrive, Delayed puberty ORPHA:79259
Histiocytoid Cardiomyopathy
Cyanosis, Failure to thrive, Hypoglycemia ORPHA:137675
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Failure to thrive, Hypoglycemia ORPHA:79282
Tyrosinemia, Type I
Failure to thrive, Pancreatic islet-cell hyperplasia, Hypoglycemia OMIM:276700
Combined Pituitary Hormone Deficiencies, Genetic Forms
Hypogonadotropic hypogonadism, Ectopic anterior pituitary gland, Hypoglycemia, Delayed puberty, A... ORPHA:95494
Glycogen Storage Disease Ia
Delayed puberty, Hypoglycemia OMIM:232200
Immunodeficiency 59 And Hypoglycemia
Hypoglycemia OMIM:233600
Glycogen Storage Disease Ib
Delayed puberty, Hypoglycemia OMIM:232220
Cholera
Hypoglycemia ORPHA:173
Wars2-Related Combined Oxidative Phosphorylation Defect
Neonatal hypoglycemia ORPHA:572798
Hepatocellular Carcinoma
Hypoglycemia, Weight loss, Type II diabetes mellitus ORPHA:88673
Fructose Intolerance, Hereditary
Glycosuria, Failure to thrive, Hypoglycemia OMIM:229600
Glutaryl-Coa Dehydrogenase Deficiency
Fasting hypoglycemia ORPHA:25
Costello Syndrome
Achilles tendon contracture, Failure to thrive, Hypoglycemia OMIM:218040
Primary Fanconi Renotubular Syndrome
Glycosuria, Hypoglycemia, Weight loss ORPHA:3337
Beckwith-Wiedemann Syndrome
Omphalocele, Neonatal hypoglycemia, Adrenocortical cytomegaly, Adrenocortical carcinoma OMIM:130650
Carnitine Palmitoyltransferase Ii Deficiency
Hypoketotic hypoglycemia ORPHA:157
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hypoketotic hypoglycemia ORPHA:228308
Glycogen Storage Disease Ic
Delayed puberty, Hypoglycemia OMIM:232240
Acute Liver Failure
Hypocapnia, Adrenal insufficiency, Hypoglycemia ORPHA:90062
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Large for gestational age, Neonatal hypoglycemia, Slender build ORPHA:457359
Hereditary Fructose Intolerance
Reactive hypoglycemia ORPHA:469
Renal Agenesis, Bilateral
Nonketotic hypoglycemia ORPHA:1848
Marburg Hemorrhagic Fever
Hypoglycemia ORPHA:99826
Visceral Steatosis, Congenital
Hypoglycemia OMIM:228100
Sotos Syndrome
Hypothyroidism, Neonatal hypoglycemia, Flexion contracture, Bilateral camptodactyly, Ankle flexio... ORPHA:821
Holoprosencephaly 1
Hypoglycemia, Diabetes insipidus, Adrenal hypoplasia OMIM:236100

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Eif4ebp1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Eif4ebp1.

No publications found that use IMPC mice or data for Eif4ebp1.

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MGI Allele Allele Type Produced
Eif4ebp1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Eif4ebp1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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