Gene Summary

Name:
eukaryotic translation initiation factor 2, subunit 1 alpha
Synonyms:
2410026C18Rik,  eIF2alpha,  Eif2a,  0910001O23Rik

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal skin morphology Eif2s1em1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Eif2s1em1(IMPC)Mbp HOM   Early adult 0.00
decreased anxiety-related response Eif2s1em1(IMPC)Mbp HET Early adult 7.56×10-05
decreased startle reflex Eif2s1em1(IMPC)Mbp HET Early adult 8.32×10-05
decreased thigmotaxis Eif2s1em1(IMPC)Mbp HET Early adult 5.73×10-05
decreased prepulse inhibition Eif2s1em1(IMPC)Mbp HET Early adult 5.10×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes
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Viewing: all phenotypes

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 Eif2s1 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 Eif2s1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Severe Primary Trimethylaminuria
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety ORPHA:468726
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Hypoglycemia, Fasting ... ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Isolated Growth Hormone Deficiency, Type Ia
Impaired growth-hormone response to insulin stimulation test, Hypoglycemia, Decreased response to... OMIM:262400
Short Stature Due To Partial Ghr Deficiency
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 ORPHA:314802
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Type II diabetes... ORPHA:79299
Pituitary Hormone Deficiency, Combined, 4
Impaired growth-hormone response to insulin stimulation test, Hypothyroidism, Adrenal insufficien... OMIM:262700
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Short Stature Due To Ghsr Deficiency
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 ORPHA:314811
Mental Retardation, Autosomal Recessive 25
Anxiety OMIM:614346
Panic Disorder 1
Anxiety OMIM:167870
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia OMIM:615158
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia OMIM:240900
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Intellectual Developmental Disorder, X-Linked 63
Anxiety OMIM:300387
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia OMIM:617950
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia OMIM:609016
Polyendocrine-Polyneuropathy Syndrome
Hypogonadism, Central hypothyroidism, Hypoglycemia OMIM:616113
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Hypoinsulinemia, Diabeti... ORPHA:99886
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Pol... ORPHA:276575
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypoglycemia OMIM:306000
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Polyphagia, Diffuse pancreatic islet hyperp... ORPHA:276556
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:613370
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia ORPHA:35878
Pituitary Hormone Deficiency, Combined, 2
Hypoglycemic seizures, Panhypopituitarism, Neonatal hypoglycemia, Hypothyroidism, Adrenal insuffi... OMIM:262600
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Recurrent hypoglycemia, Increased circulating ACTH level OMIM:607398
Glycogen Storage Disease Vi
Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia OMIM:232700
Dystonia 11, Myoclonic
Tremor, Agoraphobia, Anxiety, Depression OMIM:159900
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Hyperinsulinemia OMIM:618406
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Microvesicular hepatic steatosis, Death in infancy, Hypoglycemia, Cholestasis, Jaundice OMIM:617156
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Congenital hepatic fibrosis, Hypoglycemia ORPHA:446
Mpi-Cdg
Congenital hepatic fibrosis, Hypoglycemia ORPHA:79319
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Glucose in... ORPHA:552
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia, Death in infancy OMIM:610768
Geniospasm 1
Anxiety OMIM:190100
Combined Oxidative Phosphorylation Deficiency 34
Hepatic steatosis, Primary adrenal insufficiency, Hypoglycemia, Hepatomegaly, Hypogonadism OMIM:617872
Insulinoma
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Fasting hyperinsulinemia, Neoplasm of the adrena... ORPHA:97279
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Hypoglycemia ORPHA:67046
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Polyphagia, Pituitary hypothyroidism, Central adrenal in... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Polyphagia, Pituitary hypothyroidism, Central adrenal in... ORPHA:71526
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Hyperinsulinemia ORPHA:329249
Growth Hormone Insensitivity Syndrome
Insulin resistance, Hypoglycemia, Type II diabetes mellitus, Diabetes insipidus, Hypogonadism, Di... ORPHA:181393
Obesity Due To Melanocortin 4 Receptor Deficiency
Polyphagia, Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Acth Deficiency, Isolated
Fasting hypoglycemia, Adrenal hypoplasia, Decreased circulating cortisol level, Cholestasis, Jaun... OMIM:201400
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Endocardial Fibroelastosis
Anterior hypopituitarism, Hypoglycemia ORPHA:2022
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia OMIM:610090
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Hepatomegaly, Pancreatitis, Diabetes mel... ORPHA:79084
Pandas
Claustrophobia, Depression, Agoraphobia, Separation insecurity, Emotional lability, Impulsivity, ... ORPHA:66624
Huntington Disease-Like 2
Depression, Apathy, Action tremor, Irritability, Anxiety OMIM:606438
Type 1 Diabetes Mellitus
Polydipsia, Hyperglycemia, Diabetes mellitus, Polyphagia OMIM:222100
Propionic Acidemia
Hepatomegaly, Hypoglycemia ORPHA:35
Combined Oxidative Phosphorylation Deficiency 52
Hepatic steatosis, Death in infancy, Hypoglycemia, Adrenal insufficiency, Pancreatitis OMIM:619386
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Adrenal hypoplasia, Neonatal hypoglycemia, Adrenocorticotropin deficient a... ORPHA:199296
Hemochromatosis, Neonatal
Cirrhosis, Hepatocellular necrosis, Hypoglycemia, Cholestasis, Hepatic fibrosis, Prolonged neonat... OMIM:231100
Obesity Due To Sim1 Deficiency
Glucose intolerance, Polyphagia, Hyperinsulinemia ORPHA:369873
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Splenomegaly ORPHA:664
Mitochondrial Complex I Deficiency, Nuclear Type 33
Dysphagia, Hypoglycemia OMIM:618253
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Hyperhidrosis, Hypoglycemia ORPHA:231147
Pituitary Stalk Interruption Syndrome
Adrenal hypoplasia, Hypothyroidism, Death in infancy, Hypoglycemia, Ectopic posterior pituitary, ... ORPHA:95496
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Shashi-Pena Syndrome
Hypoglycemia OMIM:617190
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia ORPHA:6
Post-Traumatic Pituitary Deficiency
Panhypopituitarism, Decreased circulating ACTH level, Pituitary hypothyroidism, Hypoglycemia, Del... ORPHA:95619
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Hypoglycemia OMIM:614741
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Hyperhidrosis, Neonatal hypoglycemia, Hypoglycemia ORPHA:231140
Mehmo Syndrome
Delayed puberty, Male hypogonadism, Hypoglycemia, Decreased response to growth hormone stimuation... OMIM:300148
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Dysphagia, Hypoglycemia OMIM:618958
Glucocorticoid Resistance, Generalized
Hypoglycemia OMIM:615962
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Cirrhosis, Hepatocellular carcinoma, Hypoglycemia, Hepatic fibrosis, Hepatomegaly, Delayed pubert... ORPHA:369
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia ORPHA:79159
Dihydrolipoamide Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia OMIM:246900
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Hypoglycemia OMIM:201910
Glucocorticoid Deficiency 1
Decreased circulating cortisol level, Recurrent hypoglycemia, Increased circulating ACTH level OMIM:202200
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Neonatal death, Death in infancy, Hypoglycemia OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Neonatal death, Death in infancy, Hypoglycemia OMIM:618839
3-Methylglutaconic Aciduria Type 4
Hypoglycemia ORPHA:67048
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hyperinsulinemia, Hyp... ORPHA:263455
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia OMIM:614702
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Congenital hypothyroidism, Precocious puberty, Hypoglycemia OMIM:614736
Temple Syndrome
Polyphagia, Type II diabetes mellitus, Recurrent hypoglycemia, Precocious puberty, Decreased resp... ORPHA:254516
Carnitine Deficiency, Systemic Primary
Hepatic steatosis, Impaired gluconeogenesis, Decreased carnitine level in liver, Hypoglycemia, He... OMIM:212140
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:610006
Stiff Person Spectrum Disorder
Exaggerated startle response, Agoraphobia, Anxiety, Emotional lability ORPHA:3198
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Hypoglycemia, Neonatal death, Death in childhood, Hyperhidrosis OMIM:245400
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Hepatic steatosis, Hypoglycemia OMIM:619048
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Hepatic steatosis ORPHA:26792
Glycogen Storage Disease Iii
Hepatic fibrosis, Hypoglycemia, Hepatomegaly OMIM:232400
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Polyphagia, Hypergonadotropic hypogonadism, Absence of ... ORPHA:66628
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia OMIM:616033
2P21 Microdeletion Syndrome
Hypogonadism, Hypoglycemia ORPHA:163693
Hypoadrenocorticism, Familial
Adrenal insufficiency, Adrenal hypoplasia, Hypoglycemia OMIM:240200
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia ORPHA:364
Cholestasis, Progressive Familial Intrahepatic, 5
Jaundice, Cirrhosis, Hypoglycemia OMIM:617049
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hypoglycemia OMIM:266150
Solitary Fibrous Tumor/Hemangiopericytoma
Abnormality of the peritoneum, Neoplasm of the liver, Hypoglycemia, Hypoinsulinemia, Recurrent hy... ORPHA:2126
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Hepatic steatosis, Hepatic fibrosis, Abnormal circulating hormone concentration... ORPHA:280356
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Polyphagia, Hypergonadotropic hypogonadism, Absence of ... ORPHA:179494
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Fasting hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia, Hepatomegaly OMIM:261680
Glycerol Kinase Deficiency
Adrenal insufficiency, Adrenocortical hypoplasia, Hypoglycemia OMIM:307030
Hsd10 Mitochondrial Disease
Hypoglycemia OMIM:300438
Proprotein Convertase 1/3 Deficiency
Hypogonadotropic hypogonadism, Decreased circulating cortisol level, Reactive hypoglycemia OMIM:600955
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Hypoglycemia ORPHA:48431
Combined Malonic And Methylmalonic Acidemia
Hypoglycemia ORPHA:289504
Gm2 Gangliosidosis, Ab Variant
Abnormal fear/anxiety-related behavior, Exaggerated startle response, Anxiety, Inappropriate beha... ORPHA:309246
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hypoglycemia OMIM:618120
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia OMIM:618838
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Postprandial hyperglycemia, Glycosuria ORPHA:2089
Multiple Endocrine Neoplasia, Type I
Prolactinoma, Elevated circulating growth hormone concentration, Increased circulating cortisol l... OMIM:131100
Silver-Russell Syndrome 2
Hyperhidrosis, Neonatal hypoglycemia OMIM:618905
Laron Syndrome
Hypohidrosis, Delayed puberty, Hypoglycemia, Abnormality of the endocrine system ORPHA:633
Galactokinase Deficiency
Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypoglycemia, Hepatomegaly, Hepatosplenomegaly ORPHA:79237
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cirrhosis, Microvesicular hepatic steatosis, Macrovesicular hepatic steatosis, Hypoglycemia, Hepa... OMIM:256810
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Diabetes mellitus, Hypoglycemia, Glycosuria OMIM:616026
Pyridoxine-Dependent Epilepsy
Hypoglycemia ORPHA:3006
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Cholestasis, Hepatic fibrosis... OMIM:246200
Pancreatic And Cerebellar Agenesis
Death in infancy, Hypoglycemia, Pancreatic hypoplasia, Hyperglycemia, Diabetes mellitus OMIM:609069
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Polyphagia, Neonatal hypoglycemia, Decreased response to growth h... OMIM:606407
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hyperglycemia, Increased hepatocellular lipid droplets, Microvesicular hepatic steatosis, Hypogly... OMIM:220111
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Hyperhidrosis, Hypoglycemia ORPHA:231137
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hypoglycemia OMIM:615160
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemia, Central hypot... OMIM:619326
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Cirrhosis, Hepatomegaly, Splenomegaly, Bile duct proliferation OMIM:613027
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Cholestatic liver disease, Hypoglycemia ORPHA:5
Infantile Liver Failure Syndrome 2
Jaundice, Hypoglycemia OMIM:616483
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hypoketotic hypoglycemia, Hepatic necrosis, Hepatic steatosis OMIM:231530
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Death in infancy, Neonatal hypoglycemia, Splenomegaly OMIM:619046
Combined Oxidative Phosphorylation Deficiency 37
Hypoglycemia OMIM:618329
Mental Retardation, Autosomal Dominant 35
Hypoglycemia OMIM:616355
Stiff-Person Syndrome
Depression, Agoraphobia, Opisthotonus, Exaggerated startle response, Anxiety OMIM:184850
Timothy Syndrome
Hypothyroidism, Hypoglycemia OMIM:601005
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Hypoglycemia, Glycosuria, Hepatomegaly, Jaundice, Neonatal death, Hepatic peri... OMIM:231680
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Neonatal hypoglycemia, Death in adolescence, Death in infancy, Hypoglycemia, Neonatal death, Deat... OMIM:619055
Maple Syrup Urine Disease
Pancreatitis, Hypoglycemia OMIM:248600
Insulin-Resistance Syndrome Type B
Abnormal oral glucose tolerance, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsuli... ORPHA:2298
Pyruvate Dehydrogenase E3 Deficiency
Hepatomegaly, Hypoglycemia ORPHA:2394
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Hepatic steatosis, Hypoglycemia OMIM:201450
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Hypoglycemia ORPHA:156
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Death in childhood, Hypoglycemia OMIM:246450
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Hypoketotic hypoglycemia, Macrovesicular hepatic steatosis OMIM:600649
Tenorio Syndrome
Hypoinsulinemia, Hypoglycemia OMIM:616260
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Hypogonadism, Hypothyroidism, Hypoglycemia OMIM:617575
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Hepatic... OMIM:251880
Immunodeficiency, Common Variable, 10
Abnormal response to ACTH stimulation test, Central adrenal insufficiency, Hypoglycemia, Decrease... OMIM:615577
Pyridoxal Phosphate-Responsive Seizures
Hypoglycemia ORPHA:79096
Classic Galactosemia
Decreased serum insulin-like growth factor 1, Hypoglycemia, Hepatomegaly, Jaundice, Delayed puberty ORPHA:79239
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Hypoglycemia OMIM:614739
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Maternal diabetes, Hyperinsulinemia, Hepatic steatosis, Insulin-resistant diabetes mel... OMIM:604367
Visceral Steatosis, Congenital
Hepatic steatosis, Neonatal death, Jaundice, Hypoglycemia OMIM:228100
Bangstad Syndrome
Increased circulating cortisol level, Hyperinsulinemia, Hypothyroidism, Abnormality of the parath... ORPHA:1227
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus ORPHA:791
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Fasting hypoglycemia, Decreased response to growth hormone stimuation test ORPHA:436174
Orthostatic Hypotension 1
Neonatal hypoglycemia OMIM:223360
Hsd10 Disease, Infantile Type
Dysphagia, Hypoglycemia ORPHA:391428
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoglycemia OMIM:615751
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Hypothyroidism, Delayed puberty, Diabetes mellitus, Hypoglycemia ORPHA:391408
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatic steatosis, Nonketotic hypoglycemia, Periportal fibrosis, Death i... OMIM:201475
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Hypoglycemia OMIM:210200
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Postprandial hyperglycemia, Impaired glucose tolerance, Hepatocellular carc... ORPHA:2088
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Increased circulating androstenedione ... ORPHA:90791
Congenital Disorder Of Glycosylation, Type It
Hepatic steatosis, Intrahepatic cholestasis, Hypoglycemia, Delayed puberty, Hepatitis, Increased ... OMIM:614921
X-Linked Acrogigantism
Abnormal oral glucose tolerance, Increased serum insulin-like growth factor 1, Abnormality of the... ORPHA:300373
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypogonadism, Hypoglycemia, Insulin resistance ORPHA:73272
Familial Glucocorticoid Deficiency
Hypoglycemic seizures, Decreased circulating dehydroepiandrosterone concentration, Impaired corti... ORPHA:361
Malonyl-Coa Decarboxylase Deficiency
Hypoglycemia OMIM:248360
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hypoketotic hypoglyc... ORPHA:71212
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hepatic steatosis, Hypoglycemia ORPHA:42
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia OMIM:618241
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Insulin resistance, Postprandial hyperglycemia, Impaired glucose tolerance,... ORPHA:769
Pituitary Apoplexy
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Hypergon... ORPHA:95613
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Increased circulating cortisol level, Abnormal circulating test... ORPHA:786
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Hyperactive renin-angiotensin system, Hypoglycemia, Jaundic... ORPHA:90790
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Hepatic steatosis OMIM:255120
Late-Onset Isolated Acth Deficiency
Decreased circulating ACTH level, Adrenocorticotropin deficient adrenal insufficiency, Graves dis... ORPHA:199299
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Hypoglycemia OMIM:611126
Fructose-1,6-Bisphosphatase Deficiency
Fasting hypoglycemia, Neonatal hypoglycemia, Hepatic steatosis, Hypoglycemia, Hepatomegaly ORPHA:348
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperinsulinemia, Type II diabetes mellitus ORPHA:3085
Sheehan Syndrome
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Decreased circulating co... ORPHA:91355
Perlman Syndrome
Hepatomegaly, Abnormal pancreas morphology, Hyperinsulinemia ORPHA:2849
Addison Disease
Androgen insufficiency, Adrenal hypoplasia, Adrenal calcification, Primary adrenal insufficiency,... ORPHA:85138
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Hepatic steatosis, Neonatal hypoglycemia, Hypoglycemia OMIM:212138
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Hypothyroidism, Recurrent hypoglycemia, Delayed puberty OMIM:616817
Propionic Acidemia
Hepatomegaly, Pancreatitis, Hypoglycemia OMIM:606054
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Hypoglycemia OMIM:229700
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Cirrhosis, Hepatocellular adenoma, Hepatic steatosis, Hypoglycemia, Cholest... ORPHA:264580
Beta-Ketothiolase Deficiency
Hepatomegaly, Hyperglycemia, Oral aversion, Hypoglycemia ORPHA:134
Multiple Endocrine Neoplasia Type 4
Hyperinsulinemic hypoglycemia, Increased circulating cortisol level, Elevated circulating growth ... ORPHA:276152
Silver-Russell Syndrome Due To A Point Mutation
Hypothyroidism, Hypoglycemia ORPHA:397590
Tay-Sachs Disease
Apathy, Exaggerated startle response OMIM:272800
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Acute Adrenal Insufficiency
Androgen insufficiency, Adrenal hypoplasia, Primary adrenal insufficiency, Decreased circulating ... ORPHA:95409
Smith-Kingsmore Syndrome
Hypoglycemia OMIM:616638
Multiple Acyl-Coa Dehydrogenase Deficiency
Dysphagia, Hypoglycemia, Acute pancreatitis, Hepatomegaly, Hepatic periportal necrosis ORPHA:26791
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Hepatomegaly ORPHA:363400
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Panhypopituitarism, Decreased circulating ACTH level, Decreased circulating follicle stimulating ... ORPHA:226307
Cog8-Cdg
Hypoglycemia ORPHA:95428
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating ACTH level, Adrenocorticotropin deficient adrenal insufficiency, Decreased ... ORPHA:293978
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Hypoglycemia OMIM:608624
Glutaric Acidemia I
Hepatomegaly, Hypoglycemia OMIM:231670
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Glucose intolerance, Hyperinsulinemia, Absence of secon... ORPHA:785
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Hypoglycemia, Insulin resistance ORPHA:230
Silver-Russell Syndrome 1
Fasting hypoglycemia, Hepatocellular carcinoma, Decreased response to growth hormone stimuation test OMIM:180860
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemic seizures, Dysphagia, Hypoglycemia, Compensated hypothyroidism ORPHA:480864
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Death in infancy, Hypoglycemia OMIM:619355
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Premature pubarche, Hypothyroidism, Hypoglycemia, Oral-pharyngeal dysphagia, Premature thelarche OMIM:616878
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Hypoglycemia OMIM:617710
Bachmann-Bupp Syndrome
Hypoglycemia OMIM:619075
Deeah Syndrome
Hypohidrosis, Panhypopituitarism, Neonatal hypoglycemia, Exocrine pancreatic insufficiency, Dysph... OMIM:619004
Non-Acquired Panhypopituitarism
Decreased circulating ACTH level, Ectopic anterior pituitary gland, Absence of secondary sex char... ORPHA:90695
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Cirrhosis, Hepatocellular adenoma, Hepatocellular carcinoma, Hepatic steato... ORPHA:370
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Hypoketotic hypoglycemia, Hepatic steatosis ORPHA:228305
Congenital Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Hepatomegaly, Precocious pube... ORPHA:528
Glycogen Storage Disease Ia
Hepatocellular carcinoma, Hypoglycemia, Hepatomegaly, Delayed puberty, Pancreatitis OMIM:232200
Mirage Syndrome
Hypergonadotropic hypogonadism, Adrenal insufficiency, Hypoplastic spleen, Hypoglycemia OMIM:617053
Glycogen Storage Disease Ib
Hepatocellular carcinoma, Hypoglycemia, Hepatomegaly, Delayed puberty, Pancreatitis OMIM:232220
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cholangitis, Microvesicular hepatic steatosis, Hypoglycemia, Cholestasis OMIM:124000
Gm2-Gangliosidosis, Ab Variant
Apathy, Exaggerated startle response OMIM:272750
Carnitine-Acylcarnitine Translocase Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hepatomegaly ORPHA:159
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Hypoglycemia OMIM:210210
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Jaundice, Hypoglycemia, Splenomegaly OMIM:608779
Tyrosinemia, Type I
Cirrhosis, Hepatocellular carcinoma, Hypoglycemia, Hepatomegaly, Splenomegaly, Pancreatic islet-c... OMIM:276700
Silver-Russell Syndrome
Insulin resistance, Premature adrenarche, Hyperhidrosis, Recurrent hypoglycemia, Precocious puberty ORPHA:813
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Decreased circulating androgen concentration, Neo... ORPHA:289548
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hypothyroidism, Hypoglycemia OMIM:618005
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Decreased circulating androgen concentration, Neo... ORPHA:168558
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Neonatal hypoglycemia ORPHA:457485
Glycogen Storage Disease Ic
Chronic pancreatitis, Hepatocellular carcinoma, Hypoglycemia, Hepatomegaly, Delayed puberty, Hepa... OMIM:232240
3-Methylglutaconic Aciduria Type 7
Hypothyroidism, Neonatal hypoglycemia, Hepatic steatosis ORPHA:445038
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Fasting hypoglycemia, Oral aversion, Insulin resistance, Premature adrenarche, Hyperhidrosis, Pre... ORPHA:96182
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Hypoglycemia ORPHA:457279
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Mitochondrial Trifunctional Protein Deficiency
Hypoketotic hypoglycemia, Cholestasis, Hypoparathyroidism, Diffuse hepatic steatosis ORPHA:746
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Insulin-resistant diabetes me... ORPHA:79086
Mitochondrial Trifunctional Protein Deficiency
Hypoketotic hypoglycemia, Cholestasis OMIM:609015
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus OMIM:608612
Isolated Complex I Deficiency
Hepatomegaly, Diabetes mellitus, Hypoglycemia ORPHA:2609
Aromatic L-Amino Acid Decarboxylase Deficiency
Limb tremor, Exaggerated startle response, Irritability, Emotional lability OMIM:608643
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Nonketotic hypoglycemia, Macrovesicular hepatic steatosis, Hepatomegaly, Hepatic calcification, L... OMIM:608836
Dilated Cardiomyopathy With Ataxia
Hypothyroidism, Microvesicular hepatic steatosis, Neonatal hypoglycemia ORPHA:66634
Wars2-Related Combined Oxidative Phosphorylation Defect
Dysphagia, Neonatal hypoglycemia ORPHA:572798
Leigh Syndrome
Dysphagia, Hypoglycemia ORPHA:506
Cerebral Visual Impairment
Neonatal hypoglycemia ORPHA:447788
Alstrom Syndrome
Hyperinsulinemia, Multinodular goiter, Chronic active hepatitis, Hypergonadotropic hypogonadism, ... OMIM:203800
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Acute pancreatitis, Hepatomegaly, Jaundice, Recurrent hypoglycemia, Lipi... ORPHA:20
Glutaryl-Coa Dehydrogenase Deficiency
Dysphagia, Fasting hypoglycemia ORPHA:25
Acyl-Coa Dehydrogenase 9 Deficiency
Hepatic steatosis, Nonketotic hypoglycemia ORPHA:99901
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90794
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Dysphagia, Hepatomegaly, Splenomegaly OMIM:613327
Combined Oxidative Phosphorylation Defect Type 39
Neonatal hypoglycemia ORPHA:565624
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Anxiety ORPHA:438216
Leprechaunism
Fasting hypoglycemia, Hyperinsulinemia, Recurrent infantile hypoglycemia, Insulin resistance, Pos... ORPHA:508
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Thyroiditis, Hepatocellular carcinoma, Hepatocellular adenoma, Hypothyroid... ORPHA:79259
Mandibuloacral Dysplasia
Glucose intolerance, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Insulin resistance ORPHA:2457
Glycogen Storage Disease Of Heart, Lethal Congenital
Neonatal hypoglycemia OMIM:261740
Combined Pituitary Hormone Deficiencies, Genetic Forms
Decreased circulating ACTH level, Ectopic anterior pituitary gland, Absence of secondary sex char... ORPHA:95494
Shigellosis
Peritonitis, Splenic abscess, Hypoglycemia, Cholestasis ORPHA:810
Hereditary Fructose Intolerance
Episodic hyperhidrosis, Jaundice, Reactive hypoglycemia, Hepatomegaly ORPHA:469
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Bannayan-Riley-Ruvalcaba Syndrome
Thyroid carcinoma, Hashimoto thyroiditis, Neoplasm of the adrenal cortex, Hypoglycemia ORPHA:109
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Decreased serum leptin, Hyperinsulinemia, Polyphagia, Hepatic steatosis, Acute pancrea... OMIM:608594
Cholera
Hypoglycemia ORPHA:173
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Hepatic steatosis, Insulin-resistant diabetes mellitus, Acute pancreatitis, Hep... OMIM:151660
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hyperglycemia, Hypoglycemia ORPHA:3008
Holoprosencephaly
Panhypopituitarism, Hypoglycemia, Diabetes insipidus, Abnormality of the spleen, Diabetes mellitu... ORPHA:2162
Hepatocellular Carcinoma
Abnormality of the hepatic vasculature, Hemobilia, Hypoglycemia, Hepatomegaly, Jaundice, Abnormal... ORPHA:88673
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperglycemia, Impaired glucose tolerance, Hyperinsulinemia, Insulin-resistant diabetes mellitus OMIM:248370
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Jaundice ORPHA:26793
Renal Agenesis, Bilateral
Nonketotic hypoglycemia ORPHA:1848
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatomegaly, Hypoglycemia OMIM:252010
Oculodentodigital Dysplasia
Hypoglycemia ORPHA:2710
Fructose Intolerance, Hereditary
Cirrhosis, Hepatic steatosis, Hypoglycemia, Glycosuria, Hepatomegaly, Jaundice OMIM:229600
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Hepatic calcification ORPHA:157
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Decreased serum leptin, Hyperinsulinemia, Polyphagia, Hepatic steatosis, Acute pancrea... OMIM:269700
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Kabuki Syndrome 2
Neonatal hypoglycemia OMIM:300867
Simpson-Golabi-Behmel Syndrome
Polysplenia, Death in infancy, Hypoglycemia, Hepatomegaly, Pancreatic islet-cell hyperplasia, Spl... ORPHA:373
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Tay-Sachs Disease
Tremor, Anxiety, Exaggerated startle response, Depression ORPHA:845
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hypoketotic hypoglycemia, Hepatic calcification, Hepatic steatosis ORPHA:228308
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatomegaly, Hepatic steatosis, Hyperhidrosis, Hypoglycemia ORPHA:17
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Jaundice, Hypoglycemia ORPHA:79282
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Prader-Willi Syndrome
Hyperinsulinemia, Polyphagia, Adrenal insufficiency, Delayed puberty, Type II diabetes mellitus, ... OMIM:176270
Bannayan-Riley-Ruvalcaba syndrome
Hashimoto thyroiditis, Hypoglycemia OMIM:153480
Beckwith-Wiedemann Syndrome
Neonatal hypoglycemia, Exocrine pancreatic insufficiency, Pseudohypoparathyroidism, Hypothyroidis... ORPHA:116
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Menkes Disease
Prolonged neonatal jaundice, Hypoglycemia ORPHA:565
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Hypothyroidism, Streak ovary, Insulin-resistant diabetes mellitus, Delayed pube... ORPHA:3464
Histiocytoid Cardiomyopathy
Hepatomegaly, Hypoglycemia ORPHA:137675
Acute Liver Failure
Hepatocellular necrosis, Hypoglycemia, Jaundice, Adrenal insufficiency, Hepatitis, Hepatic necros... ORPHA:90062
Primary Fanconi Renotubular Syndrome
Hypoglycemia, Glycosuria ORPHA:3337
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Beckwith-Wiedemann Syndrome
Neonatal hypoglycemia, Hepatomegaly, Pancreatic hyperplasia, Adrenocortical carcinoma, Adrenocort... OMIM:130650
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Sandhoff Disease
Exaggerated startle response OMIM:268800
Holoprosencephaly 1
Diabetes insipidus, Adrenal hypoplasia, Hypoglycemia OMIM:236100
Steinert Myotonic Dystrophy
Male hypogonadism, Hyperinsulinemia, Insulin resistance, Hypergonadotropic hypogonadism, Cholelit... ORPHA:273
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Neonatal hypoglycemia ORPHA:457359
Costello Syndrome
Hypoglycemia OMIM:218040
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response ORPHA:521426
Atypical Werner Syndrome
Hyperinsulinemia, Fasting hyperinsulinemia, Abnormality of circulating leptin level, Hepatic stea... ORPHA:79474
Turner Syndrome
Cirrhosis, Increased circulating gonadotropin level, Hyperinsulinemia, Glucose intolerance, Hepat... ORPHA:881
Mosaic Monosomy X
Cirrhosis, Increased circulating gonadotropin level, Hyperinsulinemia, Glucose intolerance, Hepat... ORPHA:99228
Monosomy X
Cirrhosis, Increased circulating gonadotropin level, Hyperinsulinemia, Glucose intolerance, Hepat... ORPHA:99226
Turner Syndrome Due To Structural X Chromosome Anomalies
Cirrhosis, Increased circulating gonadotropin level, Hyperinsulinemia, Glucose intolerance, Hepat... ORPHA:99413
Sotos Syndrome
Prolonged neonatal jaundice, Hypothyroidism, Neonatal hypoglycemia ORPHA:821
Alström Syndrome
Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concentration, A... ORPHA:64
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response ORPHA:438213
Pmm2-Cdg
Elevated circulating growth hormone concentration, Hyperinsulinemia, Insulin resistance, Elevated... ORPHA:79318

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 Eif2s1

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 Eif2s1.

No publications found that use IMPC mice or data for Eif2s1.

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MGI Allele Allele Type Produced
Eif2s1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Eif2s1em1(IMPC)Mbp Exon Deletion Mice
Eif2s1tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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