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Gene: Epm2aip1 MGI:1925031

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
EPM2A interacting protein 1
Synonyms:
EPM2A (laforin) interacting protein 1,  A930003G21Rik

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 Epm2aip1 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 Epm2aip1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hepatic failure, Hypoglycemia, Hepatic steatosis OMIM:261650
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Diarrhea 13
Elevated hepatic transaminase, Recurrent hypoglycemia, Failure to thrive, Hepatic steatosis OMIM:620357
Type 2 Diabetes Mellitus
Increased waist to hip ratio, Insulin resistance, Type II diabetes mellitus OMIM:125853
Obesity And Hypopigmentation
Hepatic steatosis, Polyphagia, Hyperinsulinemia, Obesity OMIM:620195
RCAD (renal cysts and diabetes)
Abnormality of the liver, Diabetes mellitus DECIPHER:47
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancrea... ORPHA:79084
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Short Stature Due To Ghsr Deficiency
Hypoglycemia, Abnormality of body weight, Decreased body weight ORPHA:314811
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Failure to thrive in infancy, Increase... OMIM:232700
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Hepatic steatosis, Type II diabetes mellitus, Obesity OMIM:615703
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Edema, Familial Idiopathic, Prepubertal
Irritability, Diabetes mellitus OMIM:129840
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Increased muscle lipid content, H... OMIM:610717
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Hepatic steatosis ORPHA:436182
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia OMIM:609016
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Glucose intolerance, Cirrhosis, Hepa... OMIM:606069
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Hypoglycemia, Leucine-Induced
Irritability, Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Failure to thrive, Hypoglycemia ORPHA:67046
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia ORPHA:314802
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated... OMIM:615158
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Hypoglycemic seizures, Truncal obesity, Incre... ORPHA:293964
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia, Prolonged neonatal jaundice OMIM:262400
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevat... OMIM:619048
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypoglycemia, Hepatic failure, Failure to thrive, Hepatic steatosis OMIM:617872
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatosplenomegaly, Hepatic st... OMIM:612526
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:615395
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Acquired Partial Lipodystrophy
Insulin resistance, Hepatic steatosis ORPHA:79087
Short Chain Acyl-Coa Dehydrogenase Deficiency
Failure to thrive, Hepatic steatosis, Ketotic hypoglycemia ORPHA:26792
Lipodystrophy, Familial Partial, Type 4
Insulin-resistant diabetes mellitus, Insulin resistance, Hepatic steatosis OMIM:613877
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Hepatic steatosis OMIM:608709
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypogl... ORPHA:324575
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Increase... OMIM:261680
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Failure to thrive, H... OMIM:614480
Plin1-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Hepatic fibrosis, Hepatic steat... ORPHA:280356
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Typ... OMIM:604367
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Increased hepatic glycogen content, Ir... ORPHA:369
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Anorexia, Elevated c... OMIM:619386
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Diabetes mellitus, Hepatic steatosis, Abdominal obesity OMIM:615980
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia OMIM:262700
Glycogen Storage Disease Ixb
Hepatomegaly, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Increased hepatic gl... OMIM:261750
Neonatal Hemochromatosis
Congenital hepatic fibrosis, Hypoglycemia, Prolonged neonatal jaundice ORPHA:446
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Micronodular cirrhosi... ORPHA:139507
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Impaired glucose tolerance, Type II diabetes mellitus OMIM:610947
Akt2-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Insulin resistance, Hepatic steatosis, Hepatomegaly ORPHA:79085
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Polyphagia, Hypogly... ORPHA:276580
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Hepatic necrosis, Hypoglycemic seizures, Hepatic steatosis, Hypoketoti... OMIM:231530
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis OMIM:618400
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hepatic steatosis OMIM:201450
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... OMIM:212140
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Macrovesicular hepatic steatosis, Hypoketotic hypogl... OMIM:600649
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Attention deficit hyperactivity disorder... ORPHA:35878
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hyperactivity, Insulin resistance, Hyperinsulinemia, Cirrhosis, Hepatic steatosis ORPHA:363400
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Agitation, Pancreatic islet-cell ... ORPHA:276608
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Irritabilit... OMIM:264470
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Agitation, Fast... ORPHA:276575
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Splenomegaly, Bile duct proliferation,... OMIM:613027
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Ketotic hypoglycemia, Irritability, Glycosuria, Postprandial hyper... ORPHA:2089
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent ... ORPHA:276556
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:255120
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes, Abnormality of body m... OMIM:616329
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Hepatic steatosis, Hepatomegaly OMIM:615238
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Polyphagia ORPHA:369873
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Insulin resistance, Elevated circ... OMIM:615381
Familial Chylomicronemia Syndrome
Acute pancreatitis, Diabetes mellitus, Jaundice, Depression, Hepatosplenomegaly, Abnormal emotion... ORPHA:444490
Hemochromatosis, Neonatal
Hypoglycemia, Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonat... OMIM:231100
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aggressive behavior, Hypersex... ORPHA:905
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Irritability, Hepatic steatosis, Neona... OMIM:212138
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu... OMIM:301045
Hypertriglyceridemia 1
Glucose intolerance OMIM:145750
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Hepatic steatosis, Decreased liver function OMIM:616829
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia, Failure to thrive in infancy ORPHA:6
Propionic Acidemia
Hepatomegaly, Hypoglycemia ORPHA:35
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Glucose intolerance, Splenomegaly ORPHA:75563
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Cachexia, Decreased liver function, He... ORPHA:42
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Portal hypertension, Splenomegaly, Mic... OMIM:251880
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Hypoglycemia, Decreased liver function ORPHA:67048
Hyperinsulinemic Hypoglycemia, Familial, 8
Attention deficit hyperactivity disorder, Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures OMIM:620211
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Diabetes mellitus, Maternal diabetes, Splenomegaly, Insulin-resistant diabetes mell... ORPHA:79083
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hepatic failure, Hypoglycemia ORPHA:664
Congenital Generalized Lipodystrophy
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Cirrhosis, Failure to thri... ORPHA:528
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Insulin-resistant diabetes mellitus, Hepatic steatosis, Pancreatitis ORPHA:435651
Lipe-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Insulin resistance, Hepatic steatosis, Hepatomegaly ORPHA:435660
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus, Small for gestational age OMIM:606176
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Small for gestational age, Insulin-resistant diabetes mellitus, Hyperinsulinemia, D... OMIM:262190
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, E... OMIM:617950
Fanconi-Bickel Syndrome
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating aspartate amino... ORPHA:2088
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Small for gestational age, Hypoglycemia, Elevated circulating aspartate aminotransferase concentr... OMIM:617093
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Hyperinsulinemia, Increas... ORPHA:263455
Seckel Syndrome 10
Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating aspartate... OMIM:617253
Idiopathic Copper-Associated Cirrhosis
Hepatic steatosis, Copper accumulation in liver, Cirrhosis ORPHA:209919
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Failure to thrive, Hypoglycemia OMIM:210200
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Irritability, Fasting hypoglycemia, He... ORPHA:348
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Hepatic steatosis, Hypoketotic hypo... ORPHA:228305
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Fasting hyperinsulinemia, Hypoglycemic seiz... ORPHA:71212
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Hepatomegaly, Hepatocellular necrosis, Periportal fibrosis, Hepatic stea... OMIM:201475
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Port... ORPHA:101330
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Increased sarcoplasmic glycogen, Splen... ORPHA:264580
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatic steatosis, Pancreatitis ORPHA:2348
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Splenomegaly OMIM:306000
Combined Oxidative Phosphorylation Deficiency 47
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Dysphagia, Failure to thrive OMIM:618958
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Hypoglycemia OMIM:614741
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hepatic fibrosis OMIM:232400
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia OMIM:611126
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Small for gestational age, Hypoglycemia, Decreased liver function, Elevated hepatic transaminase OMIM:615160
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hepatic st... OMIM:615438
Blue Diaper Syndrome
Elevated hepatic transaminase, Recurrent hypoglycemia, Increased body weight, Increased proinsuli... ORPHA:94086
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Failure to thrive in infancy, Elevated circulating alanine aminotransferase concent... OMIM:618805
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferas... OMIM:256810
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Failure to thrive, Macrovesicular hepatic steatosis OMIM:618234
Glycogen Storage Disease Ixd
Increased muscle glycogen content, Hypoglycemia, Glycogen accumulation in muscle fiber lysosomes OMIM:300559
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperi... ORPHA:79086
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, Hepatic fibros... ORPHA:541423
Cholesteryl Ester Storage Disease
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... OMIM:278000
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Failure to thrive, Hepatic steatosis, Decreased liver function, Dysphagia ORPHA:70472
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Rotor Syndrome
Jaundice, Storage in hepatocytes, Intermittent jaundice ORPHA:3111
Acth Deficiency, Isolated
Cholestasis, Jaundice, Fasting hypoglycemia OMIM:201400
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Acyl-Coa Dehydrogenase 9 Deficiency
Nonketotic hypoglycemia, Acute hepatic failure, Elevated hepatic transaminase, Failure to thrive,... ORPHA:99901
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased body weight, Depression, Glucose intolerance, Abdominal obesity, Emotional lability, Ma... ORPHA:189427
Cholestasis, Progressive Familial Intrahepatic, 5
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c... OMIM:617049
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Jaundice, Glycosuria, Hepatic periportal necrosis, Hepatic steatosis OMIM:231680
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Obesity, Hepatic steatosis ORPHA:412
Citrullinemia Type Ii
Elevated hepatic transaminase, Restlessness, Hyperactivity, Hepatomegaly, Aggressive behavior, Ab... ORPHA:247585
Citrullinemia, Type Ii, Adult-Onset
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... OMIM:603471
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hypoglycemia OMIM:266150
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotr... OMIM:614921
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Infantile Liver Failure Syndrome 2
Elevated hepatic transaminase, Jaundice, Hypoglycemia, Acute hepatic failure OMIM:616483
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614582
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypoglycemia, Failure to thrive in infancy, Microvesicular hepati... OMIM:619418
Bardet-Biedl Syndrome 19
Hepatic steatosis, Obesity OMIM:615996
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Insulin resistance, Hyperinsulinemia, ... OMIM:613327
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia, Pancreatitis OMIM:620137
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Glucose intolerance OMIM:309620
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Obesity, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular ... ORPHA:209902
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Cholestatic liver disease, Failure to thrive, Hypoketotic hypoglycemia ORPHA:5
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Irritabili... ORPHA:3077
Gracile Syndrome
Hepatic steatosis, Cirrhosis, Cholestasis, Elevated hepatic iron concentration ORPHA:53693
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Liver Failure, Infantile, Transient
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... OMIM:613070
Glucocorticoid Deficiency 2
Recurrent hypoglycemia OMIM:607398
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Jaundice, Hepatic failure, Cho... ORPHA:79303
Galactokinase Deficiency
Hepatomegaly, Small for gestational age, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Fail... ORPHA:79237
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Ddost-Cdg
Elevated hepatic transaminase, Failure to thrive, Hepatic steatosis ORPHA:300536
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:610006
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Large for gestation... OMIM:616026
Fructose-1,6-Bisphosphatase Deficiency
Irritability, Hypoglycemia, Hepatomegaly OMIM:229700
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Hypoglycemia, Microvesicular hepatic steatosis, Jaundice, Cholesta... OMIM:617156
Monosomy 13Q34
Insulin resistance, Hepatic steatosis, Obesity ORPHA:96168
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Hypoglycemia, Bile duct proliferation, Macrovesicular hepatic stea... OMIM:618329
Macrocephaly-Intellectual Disability-Autism Syndrome
Hepatic steatosis, Attention deficit hyperactivity disorder ORPHA:210548
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia ORPHA:364
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... OMIM:618641
Alstrom Syndrome
Elevated hepatic transaminase, Hepatomegaly, Chronic active hepatitis, Insulin-resistant diabetes... OMIM:203800
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Chole... OMIM:124000
Aromatase Deficiency
Eunuchoid habitus, Insulin resistance, Obesity, Type II diabetes mellitus, Hepatic steatosis ORPHA:91
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II ... OMIM:151660
Congenital Macroglossia
Abnormal hepatic glycogen storage ORPHA:2430
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... OMIM:615595
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Hypoglycemia ORPHA:156
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Hepatic steatosis, Neonatal hypoglycemia ORPHA:445038
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili... ORPHA:567983
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Diabetes me... ORPHA:98908
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Diabetes mellitus, Jaundice, Aplasia/Hypoplasia of the pancreas, A... ORPHA:93111
Proprotein Convertase 1/3 Deficiency
Obesity, Hypoinsulinemia, Reactive hypoglycemia OMIM:600955
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Repetitive compulsive behavior, Microvesicular hepatic steatosis, ... ORPHA:66634
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Acute pancreat... OMIM:608594
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypoglycemia OMIM:201910
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminan... ORPHA:2137
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive in infancy, Cholestasis, Diffuse hepatic steatosis, Chronic hepatic failure, Hy... ORPHA:746
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Decreased liver function, Glycosuria, Diffuse hepatic steatosis, Failure to thrive ORPHA:436271
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Hepatic fibrosis, Failure to thrive, Hepati... OMIM:616263
Pancreatic Agenesis 2
Diabetes mellitus, Small for gestational age, Pancreatic aplasia, Pancreatic hypoplasia, Exocrine... OMIM:615935
Congenital Isolated Acth Deficiency
Neonatal hypoglycemia, Hepatitis, Hypoglycemic seizures, Prolonged neonatal jaundice ORPHA:199296
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Nonketotic hypoglycemia, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Elevated circ... OMIM:608836
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating alanine aminotransferase concentration, Cholestasis, Portal fibrosis, Failur... OMIM:614300
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated hepatic transaminase, Neoplasm of the pancreas, Small for gestational age, Insulin-resis... ORPHA:2959
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Cachexia, Weight loss, Macrovesicular hepatic steatosis, Cirrhosis... ORPHA:298
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis, Failure to thrive, Elevated circulating aspartate aminotransfer... OMIM:610198
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Hepatomegaly, Elevated hepatic transaminase, Acute pancreatitis, Anorexi... ORPHA:20
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hepatic steatosis, Hepatosplenomegaly OMIM:619013
Dpm1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Hepatic fibrosis, Failure to thr... ORPHA:79322
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Portal hypertension, Weight loss... OMIM:619487
Adrenomyodystrophy
Failure to thrive, Hepatic steatosis ORPHA:977
Cog8-Cdg
Elevated hepatic transaminase, Failure to thrive, Hypoglycemia ORPHA:95428
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Jaundice, Cirrhosis, Glycosuria, Failu... OMIM:229600
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Failure to thrive, Hepatic steatosis, Pancreatitis, Depression OMIM:236200
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Hyperglycemia, Failure to thrive OMIM:615453
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Acute pancreatitis, Splenomegaly,... OMIM:269700
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe... ORPHA:2298
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatic steatosis, Pancreatitis ORPHA:280365
Chylomicron Retention Disease
Elevated hepatic transaminase, Increased hepatocellular lipid droplets, Failure to thrive, Hepati... ORPHA:71
Hypoadrenocorticism, Familial
Hypoglycemia OMIM:240200
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Decreased liver function, Increased intramyocellular lipid droplets, Glycosuria, In... OMIM:220110
3-Methylglutaconic Aciduria, Type Viib
Hepatic steatosis, Neonatal hypoglycemia OMIM:616271
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis OMIM:275630
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Weight loss, Neoplasm of the liver, Recurrent hypog... ORPHA:2126
19P13.12 Microdeletion Syndrome
Self-injurious behavior, Hyperactivity, Hepatic steatosis, Obesity ORPHA:254346
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hepatic calcification, Hepatic failure, Hepatic steatosis, Hypoketotic hypoglycemia ORPHA:228308
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating aspartate ami... OMIM:300972
Interstitial Lung And Liver Disease
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615486
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia OMIM:618838
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Failure to thrive, Hypoglycemia OMIM:614736
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis ORPHA:369840
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Aggressive behavior, Increased intramy... ORPHA:17
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... OMIM:277900
Citrullinemia, Type Ii, Neonatal-Onset
Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ... OMIM:605814
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hepatic steatosis ORPHA:52430
Bloom Syndrome
Hepatic steatosis, Small for gestational age, Type II diabetes mellitus OMIM:210900
Pearson Syndrome
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Small for gestational age, Pancre... ORPHA:699
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Micronodular cirrhosis, Obesity, Increased intramyoc... ORPHA:98907
Pituitary Stalk Interruption Syndrome
Failure to thrive, Hypoglycemia ORPHA:95496
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Small for gestational age, Hypoglycemia, Slender build, Portal hyp... OMIM:613658
Glucocorticoid Resistance, Generalized
Hypoglycemia OMIM:615962
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Hypoglycemia, Hepatocellular adenoma, Hypoglycemic seizures, Increased hepatic glyc... ORPHA:79259
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Cholestasis, Weight loss, Portal fibrosis, Hepatic fibrosis, Pr... OMIM:619377
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Hepatic steatosis, Decreased liver function OMIM:614922
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Hypoglycemia OMIM:616113
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614924
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat... OMIM:616433
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:619525
Pancreatic And Cerebellar Agenesis
Failure to thrive, Diabetes mellitus, Hypoglycemia, Hyperglycemia, Pancreatic hypoplasia, Pancrea... OMIM:609069
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis, Failure to thrive OMIM:616672
Pituitary Hormone Deficiency, Combined, 6
Hypoglycemia, Neonatal hypoglycemia OMIM:613986
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Splenomegal... OMIM:261515
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hepatic steatosis OMIM:212065
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Tics, Compulsive behaviors, Hepatic steatosis, Abnormal repetitive mannerisms, Restrictive behavi... OMIM:619475
Liver Disease, Severe Congenital
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Biliary hyperplasia, Intrahepatic... OMIM:619991
Cimdag Syndrome
Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly OMIM:619273
Atypical Werner Syndrome
Failure to thrive, Diabetes mellitus, Insulin-resistant diabetes mellitus, Fasting hyperinsulinem... ORPHA:79474
Turner Syndrome Due To Structural X Chromosome Anomalies
Elevated hepatic transaminase, Failure to thrive in infancy, Hyperinsulinemia, Obesity, Biliary c... ORPHA:99413
Turner Syndrome
Elevated hepatic transaminase, Failure to thrive in infancy, Hyperinsulinemia, Obesity, Biliary c... ORPHA:881
Mosaic Monosomy X
Elevated hepatic transaminase, Failure to thrive in infancy, Hyperinsulinemia, Obesity, Biliary c... ORPHA:99228
Monosomy X
Elevated hepatic transaminase, Failure to thrive in infancy, Hyperinsulinemia, Obesity, Biliary c... ORPHA:99226
Porphyria Due To Ala Dehydratase Deficiency
Abnormal fear-induced behavior, Agitation, Restlessness, Depression ORPHA:100924
Lysosomal Acid Lipase Deficiency
Elevated hepatic transaminase, Fatal liver failure in infancy, Cachexia, Hypersplenism, Microvesi... ORPHA:275761
Tyrosinemia, Type I
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Splenomegaly, H... OMIM:276700
Mucopolysaccharidosis-Plus Syndrome
Splenomegaly, Hepatomegaly, Macrovesicular hepatic steatosis OMIM:617303
Abetalipoproteinemia
Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis, Cirrhosis, Failure to thrive, Hepa... ORPHA:14
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Microvesicular hepatic steatosis, Hepatocellular necrosis, Hepatosplenomegaly, Irri... OMIM:618278
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Splenomegaly, Hepatitis, Weight loss, Irritability, Hepatic steatosis OMIM:615846
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Nodular regenerative hype... ORPHA:404454
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Glucose intolerance, Macrovesicular hepatic steatosis, Hepatomegaly OMIM:619127
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... OMIM:203700
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Small for gestational age, Hypoglycemia, Increased hepatocellular lipid droplets, Microvesicular ... OMIM:220111
Arima Syndrome
Hepatomegaly, Hepatic fibrosis, Cirrhosis, Polydipsia, Hepatic steatosis OMIM:243910
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Jaundice, Cholestasis,... ORPHA:247598
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis OMIM:615356
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Small for gestational age, Elevated circulating aspartate aminotransferase concentr... OMIM:619573
Ogden Syndrome
Maternal diabetes, Microvesicular hepatic steatosis, Jaundice, Irritability, Macrovesicular hepat... OMIM:300855
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior ORPHA:309246
Intellectual Developmental Disorder, Autosomal Dominant 68
Hepatic steatosis, Attention deficit hyperactivity disorder OMIM:619934
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Hyperactivity, Aggressive behavior, Splenomegaly, Cholestatic liver disease, Cirrho... OMIM:270400
1P36 Deletion Syndrome
Hepatic steatosis, Abnormality of the spleen, Polyphagia, Obesity, Self-injurious behavior, Abnor... ORPHA:1606
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Large for gestational age, Microvesicular hepatic steatosis, Cirrhosis, Elevated he... OMIM:300868
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Impulsivity, Portal hypertension, Bruxism, Cholestasis, Hepatosplenomegaly, Stereotypical body ro... OMIM:619503
Wiedemann-Rautenstrauch Syndrome
Hepatic steatosis, Failure to thrive, Slender build, Type II diabetes mellitus ORPHA:3455
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Abdominal obesity, Hepatic steatosis OMIM:619321
Alström Syndrome
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Portal hypertension, Splenomegaly... ORPHA:64
Digeorge Syndrome
Splenomegaly, Obesity, Attention deficit hyperactivity disorder, Cholelithiasis, Hepatic steatosis OMIM:188400
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Self-in... ORPHA:353281
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Self-in... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Self-in... ORPHA:353277
Homozygous Familial Hypercholesterolemia
Hepatic steatosis ORPHA:391665

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 Epm2aip1

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 Epm2aip1.

No publications found that use IMPC mice or data for Epm2aip1.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Epm2aip1tm392922(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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