Gene Summary

Name:
pantothenate kinase 1
Synonyms:
5430426F23Rik,  Pank1b,  Pank1a,  Pank1,  4632412I06Rik

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 liver morphology Pank1em1(IMPC)Mbp HOM Early adult 0.00
hypoactivity Pank1em1(IMPC)Mbp HOM   Early adult 8.75×10-06
small liver Pank1em1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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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.

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

33 Images

Human diseases caused by Pank1 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 Pank1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Obesity Due To Melanocortin 4 Receptor Deficiency
Polyphagia, Hyperinsulinemia, Hypertriglyceridemia, Type II diabetes mellitus, Childhood-onset tr... ORPHA:71529
Glycogen Storage Disease Vi
Hypercholesterolemia, Elevated hepatic transaminase, Hyperlipidemia, Hypoglycemia, Hepatomegaly, ... OMIM:232700
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Hypertriglycerid... OMIM:306000
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hypertriglyceridemia, Hepatom... OMIM:614480
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hypoglycemia, Impaired gluconeogenesis, Hepatic failure OMIM:261650
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Polyphagia, Hyperinsulinemia, Cholestasis, Failure to thrive, Childhood-on... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Polyphagia, Hyperinsulinemia, Cholestasis, Failure to thrive, Childhood-on... ORPHA:71526
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Pol... ORPHA:276575
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Polyphagia, Diffuse pancreatic islet hyperp... ORPHA:276556
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Insulin resistance, Hepatic steatosis, Hypertriglyceridemia, Type II diabet... OMIM:615703
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Obesity, Polyphagia, Cholestasis OMIM:609734
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Diabetes me... OMIM:610717
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Elevated hepatic transaminase, Hepatic steatosis, Elevated circulating alka... OMIM:616829
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated hepatic transaminase OMIM:615395
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Hyperinsulinemia, Tall stature, Obesity OMIM:618406
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hypoglycemia, Cholest... OMIM:617156
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Diabetes mellitus, Hypertriglyceridemia OMIM:613877
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus ORPHA:436182
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Hyperinsulinemia, Obesity ORPHA:329249
Combined Oxidative Phosphorylation Deficiency 34
Hepatic steatosis, Hypoglycemia, Hepatomegaly, Failure to thrive, Hepatic failure OMIM:617872
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated hepatic transaminase OMIM:606664
Obesity Due To Sim1 Deficiency
Glucose intolerance, Polyphagia, Hyperinsulinemia, Obesity ORPHA:369873
Macrosomia Adiposa Congenita
Large for gestational age, Polyphagia, Obesity OMIM:248100
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Insulin resistance, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, ... OMIM:612526
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated hepatic transaminase, Failure to thrive OMIM:614582
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Elevated hepatic transaminase OMIM:618400
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Hep... OMIM:619048
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase, Failure to thrive OMIM:617093
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity, Hepatic steatosis, Diabetes mellitus, Insulin resistance OMIM:615980
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Diabetes mellitus, Overweight, Obesity OMIM:613375
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age, Neonatal hypoglycemia OMIM:240900
Type 1 Diabetes Mellitus
Polydipsia, Hyperglycemia, Diabetes mellitus, Polyphagia OMIM:222100
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Hepatic steatosis, Hepatic fibrosis, Hypertriglyceridemia, Insulin-resistant di... ORPHA:280356
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyp... OMIM:601820
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hepatic steatosis, Hypertriglyceridemia OMIM:615238
Insulinoma
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Fasting hyperinsulinemia, Polyphagia, Nonketotic... ORPHA:97279
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia OMIM:609016
Temple Syndrome
Polyphagia, Small for gestational age, Type II diabetes mellitus, Recurrent hypoglycemia, Obesity ORPHA:254516
Carnitine Deficiency, Systemic Primary
Elevated hepatic transaminase, Hepatic steatosis, Impaired gluconeogenesis, Decreased carnitine l... OMIM:212140
Immunodeficiency 47
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jau... OMIM:300972
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Cirrhosis, Elevated circulating aspartate aminotransferase concentration, R... OMIM:278000
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Hepatomegaly, Pancreatitis, Diabetes mel... ORPHA:79084
Leptin Receptor Deficiency
Abnormal eating behavior, Diabetes mellitus, Polyphagia, Obesity OMIM:614963
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity OMIM:613886
Obesity Due To Congenital Leptin Deficiency
Polyphagia, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Obesity ORPHA:66628
Combined Oxidative Phosphorylation Deficiency 52
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Aminoaciduria, Hy... OMIM:619386
Citrullinemia, Type Ii, Adult-Onset
Elevated hepatic transaminase, Hepatic steatosis, Hepatocellular carcinoma, Hypertriglyceridemia,... OMIM:603471
Leptin Deficiency Or Dysfunction
Abnormal eating behavior, Polyphagia, Obesity OMIM:614962
Obesity Due To Leptin Receptor Gene Deficiency
Polyphagia, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Obesity ORPHA:179494
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Jaundice,... OMIM:301045
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Combined Oxidative Phosphorylation Deficiency 19
Hepatic steatosis, Failure to thrive OMIM:615595
Bardet-Biedl Syndrome 9
Polyphagia, Truncal obesity, Hyperglycemia, Polydipsia, Obesity OMIM:615986
Hypotonia-Cystinuria Syndrome
Polyphagia, Failure to thrive, Cystinuria ORPHA:163690
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Hepatic steatosis, Failure to thrive ORPHA:26792
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hypoketotic hypoglycemia, Hepatomegaly, Transie... OMIM:255120
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypercholesterolemia, Hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic steatosis... ORPHA:209902
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... OMIM:251880
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Increased hepatic glycogen content, Cirrhosis, Elevated hepatic transaminase, Hepatocellular carc... ORPHA:369
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Hepatic steatosis, Insulin-resistant diabetes mellitus, Hepatomegaly, Hypertr... ORPHA:79085
Liver Failure, Infantile, Transient
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Macrovesicular hepatic steatosis... OMIM:613070
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Insulin resistance, Hepatic steatosis, Hepatomegaly, Hypertriglyce... OMIM:615381
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Macrovesicular hepati... OMIM:256810
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Cholelithiasis, Biliary hyperplasia,... ORPHA:567983
Congenital Bile Acid Synthesis Defect Type 3
Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnormality, Hep... ORPHA:79302
African Iron Overload
Peritonitis, Micronodular cirrhosis, Increased circulating cortisol level, Viral hepatitis, Hepat... ORPHA:139507
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Cirrhosis, Fasting hypoglycemia, Elevated hepatic transaminase, Hepatocellu... ORPHA:264580
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Cholestasis, Decreased liver function, Failure ... OMIM:614300
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Dysphagia, Elevated hepatic transaminase, Diffuse hepatic steatosis OMIM:264470
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Cirrhosis, Fasting hypoglycemia, Elevated hepatic transaminase, Hepatocellu... ORPHA:370
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Maternal diabetes, Hyperinsulinemia, Hepatic steatosis, Insulin-resistant diabetes mel... OMIM:604367
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatic steatosis, Hypoglycemia, Hepatomegaly, Hyperglycinuria OMIM:201450
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Elevated hepatic transaminase, Hyperinsulinemia, Polyphagia, Hepatic steatosis, Tall s... OMIM:608594
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemi... OMIM:613027
Hypotonia-Cystinuria Syndrome
Polyphagia, Neonatal hypoglycemia, Failure to thrive, Cystinuria OMIM:606407
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Cholestatic liver disease, Elevated hepatic transaminase OMIM:602114
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Obesity ORPHA:177910
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hepatic steatosis, Hypoketotic hypoglycemia, Hepatic necrosis, Fulminant h... OMIM:231530
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Elevated hepatic transaminase, Hyperinsulinemia, Polyphagia, Hepatic steatosis, Tall s... OMIM:269700
Renal Glucosuria
Polydipsia, Polyphagia, Glycosuria OMIM:233100
Cholestasis-Lymphedema Syndrome
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Hepatomegaly, Jaund... OMIM:214900
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Ketotic hypoglycemia, Postprandial hyperglycemia, Glycosuria, Fail... ORPHA:2089
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Wilson Disease
Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failu... ORPHA:905
Acquired Partial Lipodystrophy
Hepatic steatosis, Insulin resistance ORPHA:79087
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia OMIM:615158
Infantile Liver Failure Syndrome 1
Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failure, Hepatomegaly, Failure to... OMIM:615438
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hypoketotic hypoglycemia, Increased circulating lactate dehydrogen... OMIM:600649
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Fasting hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia, Hepatomegaly, He... OMIM:261680
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Hepatomegaly, Hypertriglyceri... ORPHA:363400
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Hepatom... ORPHA:528
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis, Failure to thrive OMIM:618234
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Insulin resistance, Hypoglycemia, Truncal obesity, Type II diabetes mellitu... ORPHA:181393
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Steatorrhea, Hepatomegaly, Ja... OMIM:613812
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Chronic hepatic fai... ORPHA:79303
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Elevated hepatic transaminase, Neonatal hyp... ORPHA:71212
6Q16 Microdeletion Syndrome
Polyphagia, Obesity ORPHA:171829
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Obesity ORPHA:411515
Hepatic Veno-Occlusive Disease
Hepatomegaly, Jaundice, Increased body weight, Elevated hepatic transaminase ORPHA:890
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Insulin-resistant diabetes mellitus, Hepatomegaly, Hypertriglyceridemia, Pancr... ORPHA:435651
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hypoglycemia, Hepatomegaly, Decreased liver fun... ORPHA:42
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hypoglycemia, Hepatic fibrosis, Hepatomegaly, Hyperlipidemia OMIM:232400
Hyperostosis Frontalis Interna
Elevated circulating alkaline phosphatase concentration, Diabetes mellitus, Obesity OMIM:144800
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hepatosplenomegaly, Elevated hepatic transaminase, Hepatic steatosis OMIM:619013
Cholestasis, Progressive Familial Intrahepatic, 5
Cirrhosis, Elevated hepatic transaminase, Hypoglycemia, Jaundice, Hepatic failure, Failure to thrive OMIM:617049
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Failure to thrive... OMIM:618805
Mpi-Cdg
Congenital hepatic fibrosis, Hypoglycemia, Hepatic failure ORPHA:79319
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Generalized aminoaciduria, Postprandial hyperglycemia, Hepatocellular carci... ORPHA:2088
Chylomicron Retention Disease
Elevated hepatic transaminase, Hepatic steatosis, Increased hepatocellular lipid droplets, Steato... ORPHA:71
Familial Chylomicronemia Syndrome
Hepatic steatosis, Decreased body weight, Recurrent pancreatitis, Acute pancreatitis, Jaundice, H... ORPHA:444490
Inflammatory Pseudotumor Of The Liver
Abnormal liver sonography, Cirrhosis, Elevated circulating alanine aminotransferase concentration... ORPHA:90003
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Elevated hepatic transaminase, Hyperinsuline... ORPHA:263455
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Type I diabetes melli... OMIM:618549
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Failure to thrive, Hypoglycemia ORPHA:67046
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Congenital hepatic fibrosis, Hypoglycemia ORPHA:446
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatic steatosis, Hypoketotic hypoglycemia, Hepatomegaly, Hepatic... ORPHA:228305
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase ORPHA:369840
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Elevated alkaline phosphatase of ... OMIM:616828
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Hepatic steatosis, Insulin-resistant diabetes mellitus, Hepatomegaly, Hypertr... ORPHA:435660
Pediatric-Onset Graves Disease
Elevated hepatic transaminase, Polyphagia, Hepatomegaly, Jaundice, Failure to thrive, Splenomegal... ORPHA:525731
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnor... ORPHA:79301
Interstitial Lung And Liver Disease
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Aminoaciduria, Hepatomegaly, Decreas... OMIM:615486
Secondary Short Bowel Syndrome
Polyphagia, Weight loss, Steatorrhea, Cholestasis, Failure to thrive ORPHA:95427
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Dysphagia... OMIM:613327
Citrullinemia Type Ii
Hypercholesterolemia, Decreased body mass index, Elevated hepatic transaminase, Hepatic steatosis... ORPHA:247585
Seckel Syndrome 10
Glucose intolerance, Insulin resistance, Hepatic steatosis, Impaired glucose tolerance, Elevated ... OMIM:617253
Huntington Disease
Choking episodes, Decreased body mass index, Polyphagia, Weight loss, Oral-pharyngeal dysphagia ORPHA:399
Hemochromatosis, Neonatal
Cirrhosis, Hepatocellular necrosis, Hypoglycemia, Cholestasis, Hepatic fibrosis, Prolonged neonat... OMIM:231100
Pick Disease Of Brain
Polyphagia OMIM:172700
Body Mass Index Quantitative Trait Locus 19
Obesity, Hyperlipidemia, Insulin resistance OMIM:617885
Preeclampsia
Abnormality of the hepatic vasculature, Elevated hepatic transaminase, Elevated circulating creat... ORPHA:275555
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Intrahepatic cholestasis, Steatorrhea, Hepatomegaly, Jaundice, Ele... OMIM:235555
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Large for gestational age ORPHA:2432
Halothane Hepatitis
Viral hepatitis, Jaundice, Hepatitis, Obesity OMIM:234350
Schaaf-Yang Syndrome
Polyphagia, Failure to thrive in infancy, Obesity OMIM:615547
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Maternal diabetes, Insulin resistance, Hepatic steatosis, Insulin-resistant diabetes m... ORPHA:79083
Retinitis Pigmentosa 71
Elevated hepatic transaminase, Pancreatitis, Obesity OMIM:616394
Frontotemporal Dementia
Polyphagia OMIM:600274
Dihydrolipoamide Dehydrogenase Deficiency
Hepatomegaly, Decreased liver function, Elevated hepatic transaminase, Hypoglycemia OMIM:246900
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatic steatosis, Intrahepatic cholestasis, Hypoglycemia, Hepatit... OMIM:614921
Infantile Liver Failure Syndrome 3
Elevated hepatic transaminase, Hepatic steatosis, Hepatic bridging fibrosis, Acute hepatic failur... OMIM:618641
Dysbetalipoproteinemia
Xanthelasma, Hypercholesterolemia, Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Hypertrig... ORPHA:412
Combined Oxidative Phosphorylation Deficiency 47
Elevated hepatic transaminase, Dysphagia, Hypoglycemia, Hepatomegaly, Failure to thrive OMIM:618958
Graves Disease, Susceptibility To, 1
Polyphagia, Weight loss OMIM:275000
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Hypoglycemia, Fasting ... ORPHA:263458
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hypoglycemia, Hepatic failure, Splenomegaly ORPHA:664
Propionic Acidemia
Hepatomegaly, Propionyl-CoA carboxylase deficiency, Hypoglycemia ORPHA:35
Familial Partial Lipodystrophy, Dunnigan Type
Insulin resistance, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Pancreatitis, Splenome... ORPHA:2348
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Steator... OMIM:607765
Bardet-Biedl Syndrome 6
Diabetes mellitus, Obesity OMIM:605231
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Elevated hepatic transaminase, Viral hepatitis, Hepatic steatosis, ... ORPHA:101330
Galactokinase Deficiency
Hypercholesterolemia, Hyperinsulinemia, Hypoglycemia, Hepatomegaly, Small for gestational age, Fa... ORPHA:79237
Man1B1-Cdg
Truncal obesity, Polyphagia ORPHA:397941
Ddost-Cdg
Hepatic steatosis, Elevated hepatic transaminase, Failure to thrive ORPHA:300536
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets, Hypoglycemia, Failure ... OMIM:220111
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Hepatic failure, Transient hyperlipidemia ORPHA:156
Hemochromatosis Type 4
Hepatic steatosis, Cirrhosis, Congenital hepatic fibrosis ORPHA:139491
Temple Syndrome
Hypercholesterolemia, Maturity-onset diabetes of the young, Overweight, Hypertriglyceridemia, Tru... OMIM:616222
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Decreased liver function, Hypoglycemia ORPHA:67048
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hypoglycemia, Microvesicular hepatic steatosis, Hepatic failure OMIM:611126
Primary Lipodystrophy
Cirrhosis, Insulin resistance, Hepatic steatosis, Pancreatitis, Splenomegaly, Type II diabetes me... ORPHA:90970
Alstrom Syndrome
Elevated hepatic transaminase, Hyperinsulinemia, Chronic active hepatitis, Hepatic steatosis, Ins... OMIM:203800
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Nonketotic hypoglycemia, Increased circulating ... ORPHA:99901
Fructose-1,6-Bisphosphatase Deficiency
Fasting hypoglycemia, Neonatal hypoglycemia, Elevated hepatic transaminase, Hepatic steatosis, Hy... ORPHA:348
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Insulin-resistant diabetes me... ORPHA:79086
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Macrovesicular hepatic steatosis, Failure to thrive, Cholestasis OMIM:614924
Combined Oxidative Phosphorylation Deficiency 30
Decreased liver function, Elevated hepatic transaminase, Failure to thrive OMIM:616974
X-Linked Sideroblastic Anemia
Glucose intolerance, Elevated hepatic transaminase, Splenomegaly ORPHA:75563
Cebalid Syndrome
Polyphagia OMIM:618774
Carnitine-Acylcarnitine Translocase Deficiency
Neonatal hypoglycemia, Elevated hepatic transaminase, Hepatic steatosis, Hypoglycemia, Hepatomegaly OMIM:212138
Benign Recurrent Intrahepatic Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Cholelithiasis, Weight loss, ... ORPHA:65682
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Glucose intolerance, Exocrine pan... ORPHA:552
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hepatomegaly, Prol... OMIM:214950
Alpha-1-Antitrypsin Deficiency
Hepatocellular carcinoma, Cirrhosis, Elevated hepatic transaminase OMIM:613490
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Decreased liver function, Small for gestational age, Elevated hepatic transaminase, Hypoglycemia OMIM:615160
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Hepatic steatosis, Hypoglycemia, Glycosuria, Hepatomegaly, Jaundice, H... OMIM:231680
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Hepatic steatosis, Cholestasis, Hepatic fibrosis, Hepatic failure,... ORPHA:541423
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Cortisone Reductase Deficiency 2
Obesity, Insulin resistance OMIM:614662
Acth Deficiency, Isolated
Fasting hypoglycemia, Decreased circulating cortisol level, Jaundice, Cholestasis OMIM:201400
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Aminoaciduria, Hypoglycemia, Cho... OMIM:124000
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Elevated hepatic transaminase, Cholestasis, Hepatomegaly, Jaundice, Hepatic failure OMIM:618528
Nephronophthisis 15
Hepatic failure, Obesity OMIM:614845
Aromatase Deficiency
Insulin resistance, Hepatic steatosis, Tall stature, Type II diabetes mellitus, Eunuchoid habitus... ORPHA:91
Luscan-Lumish Syndrome
Overgrowth, Polyphagia, Obesity OMIM:616831
Hemochromatosis Type 2
Diabetes mellitus, Congenital hepatic fibrosis, Elevated hepatic transaminase, Abnormality of end... ORPHA:79230
Sim1-Related Prader-Willi-Like Syndrome
Polyphagia, Failure to thrive, Abdominal obesity, Type II diabetes mellitus, Obesity ORPHA:398079
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Hypoglycemia, Glycosuria, Hepatomegaly, Large for gestational age, Diabetes mellitus OMIM:616026
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Portal hypertension, Hepatic fibrosis, Jaundice, Hepatomegaly, Hep... OMIM:616278
Chromosome Xq26.3 Duplication Syndrome
Overgrowth, Polyphagia, Tall stature OMIM:300942
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Elevated hepatic transaminase, Dysphagia, Macrovesicular hepatic steatosis, Weight los... ORPHA:298
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Jaundice, Type II diabetes mellitus, Sple... OMIM:616860
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Glucose intolerance, Impaired glucose tolerance, Cholestasis, Hepatic fibrosis, Hepatomegaly, Hep... OMIM:615630
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatic steatosis, Periportal fibrosis, Nonketotic hypoglycemia, Hepatom... OMIM:201475
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Elevated hepatic transaminase, Hypertyrosinemia, Hepatic steatosis, Increas... ORPHA:247598
Coach Syndrome 2
Elevated hepatic transaminase, Elevated circulating creatinine concentration, Hepatic fibrosis, C... OMIM:619111
Disorder Of Bile Acid Synthesis
Abnormality of the liver, Elevated hepatic transaminase, Biliary tract abnormality, Cholestasis ORPHA:79168
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Failure to thrive, Acute hepatic steatosis, Hypoglycemia OMIM:210200
Congenital Disorder Of Glycosylation, Type Iij
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alkaline phosphatase... OMIM:613489
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Hyperinsulinemia, Hepatic steatosis, Insulin-resistant diabetes mellitus, A... OMIM:151660
Gracile Syndrome
Elevated hepatic iron concentration, Hepatic steatosis, Cirrhosis, Cholestasis ORPHA:53693
Crimean-Congo Hemorrhagic Fever
Jaundice, Elevated hepatic transaminase, Hepatic steatosis ORPHA:99827
Hemochromatosis, Type 2B
Hepatomegaly, Cirrhosis, Elevated hepatic transaminase, Splenomegaly OMIM:613313
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Disproportionate tall stature, Tall stature, Pancreatitis, Failure to thrive, ... OMIM:236200
2Q23.1 Microdeletion Syndrome
Polyphagia ORPHA:228402
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Elevated hepatic transaminase, Polyphagia, Hyperglycemia, Polydipsia, Hyperlipidemia, Obesity ORPHA:293987
X-Linked Acrogigantism
Abnormal oral glucose tolerance, Polyphagia, Tall stature, Fasting hyperinsulinemia, Increased bo... ORPHA:300373
Pyruvate Dehydrogenase E3 Deficiency
Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Failure to thrive, Hepatic failure ORPHA:2394
Cholestasis, Intrahepatic, Of Pregnancy, 1
Jaundice, Intrahepatic cholestasis, Elevated hepatic transaminase, Abnormal liver function tests ... OMIM:147480
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Chronic pancreatitis, Hepatic steatosis, Increased circulating lac... ORPHA:98908
Neutral Lipid Storage Disease With Ichthyosis
Micronodular cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypertrig... ORPHA:98907
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hepatomegaly, Dysphagia, Elevated hepatic transaminase, Failure to thrive OMIM:613561
Isolated Biliary Atresia
Xanthelasma, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Elevated gamma-glutam... ORPHA:30391
Magel2-Related Prader-Willi-Like Syndrome
Abdominal obesity, Polyphagia, Increased body weight, Failure to thrive, Type II diabetes mellitus ORPHA:398069
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Glycosuria, Hepatomegaly, Decreased liver function, Failure to thrive, Diffuse hep... ORPHA:436271
Combined Oxidative Phosphorylation Deficiency 37
Failure to thrive, Decreased liver function, Elevated hepatic transaminase, Hypoglycemia OMIM:618329
Trisomy 18P
Polyphagia ORPHA:1715
Bardet-Biedl Syndrome 21
Overweight, Elevated hepatic transaminase, Obesity OMIM:617406
Sclerosing Cholangitis, Neonatal
Cirrhosis, Elevated hepatic transaminase, Sclerosing cholangitis, Biliary cirrhosis, Cholestasis,... OMIM:617394
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatic steatosis, Hypoketotic hypoglycemia, Reduced carnitine O-palmitoyltransferase level, Hepa... ORPHA:228308
Prader-Willi Syndrome
Polyphagia, Hyperinsulinemia, Failure to thrive in infancy, Type II diabetes mellitus, Abdominal ... OMIM:176270
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Decreased circulating cortisol level, Prolonged neo... ORPHA:199296
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia, Increased body weight, Increased circulating cortisol level, Abdominal obesity OMIM:615954
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Polyphagia, Small for gestational age, Bulimia, Failure to thrive, Diabetes mellitus, Obesity ORPHA:98754
Adrenomyodystrophy
Hepatic steatosis OMIM:300270
Fructose Intolerance, Hereditary
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Transient aminoaciduria, Hypoglycemi... OMIM:229600
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Polyphagia, Small for gestational age, Bulimia, Failure to thrive, Diabetes mellitus, Obesity ORPHA:98793
Laurence-Moon Syndrome
Congenital hepatic fibrosis, Type II diabetes mellitus, Obesity ORPHA:2377
Gallbladder Disease 1
Elevated hepatic transaminase, Cholesterol gallstones, Cholelithiasis, Hepatic fibrosis, Jaundice... OMIM:600803
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Polyphagia, Small for gestational age, Bulimia, Failure to thrive, Diabetes mellitus, Obesity ORPHA:177904
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splen... OMIM:602347
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Steatorrhea OMIM:618752
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Polyphagia, Small for gestational age, Bulimia, Failure to thrive, Diabetes mellitus, Obesity ORPHA:177901
Infantile Liver Failure Syndrome 2
Jaundice, Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia OMIM:616483
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Elevated hepatic transaminase, Glycosuria OMIM:614817
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hepatic steatosis, Elevated circulating alkaline phosphatase concentration ORPHA:52430
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Reactive hypoglycemia, Obesity OMIM:600955
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hypoglycemia ORPHA:364
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic steatosis, Steatorrhea, Pancreatic fibrosis, Hepatic fibrosis, Hepatomegaly, Failure to t... OMIM:616263
Autoimmune Hepatitis
Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Viral hepatitis, Hepatocellular carcin... ORPHA:2137
Biliary Atresia, Extrahepatic
Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahepatic biliary duct atresia,... OMIM:210500
Lysosomal Acid Lipase Deficiency
Xanthelasma, Hypercholesterolemia, Fatal liver failure in infancy, Microvesicular hepatic steatos... ORPHA:275761
Paternal Uniparental Disomy Of Chromosome 1
Polyphagia, Obesity ORPHA:251004
Prader-Willi-Like Syndrome
Polyphagia, Small for gestational age, Bulimia, Failure to thrive, Diabetes mellitus, Obesity ORPHA:398073
3-Methylglutaconic Aciduria Type 7
Hepatic steatosis, Neonatal hypoglycemia, Elevated hepatic transaminase ORPHA:445038
Protoporphyria, Erythropoietic, X-Linked
Elevated hepatic transaminase, Cholelithiasis OMIM:300752
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Maturity-onset diabetes of the young, Obesity ORPHA:254531
Adrenomyodystrophy
Hepatic steatosis, Failure to thrive ORPHA:977
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Xanthelasma, Hypercholesterolemia, Increased hepatic glycogen content, Hep... ORPHA:79259
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Hepatic steatosis, Decreased liver function OMIM:614922
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Increased hepatocellular lipid droplets, Aminoaciduria, Glycosuria, Hepatomegaly, Decreased liver... OMIM:220110
Angelman Syndrome
Dysphagia, Polyphagia, Obesity ORPHA:72
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated hepatic transaminase, Hepatic steatosis, Insulin-resistant diabetes mellitus, Small for ... ORPHA:2959
Mental Retardation, Autosomal Dominant 1
Polyphagia OMIM:156200
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatic steatosis, Hypocholesterolemia, Hepatic fibrosis, Hepatome... OMIM:212065
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Hepatic steatosis, Polydipsia, Jaundice, Abnormality of exocrine p... ORPHA:93111
19P13.12 Microdeletion Syndrome
Hepatic steatosis, Hyperlipidemia, Obesity ORPHA:254346
Prader-Willi Syndrome
Diabetes mellitus, Polyphagia, Failure to thrive, Abdominal obesity ORPHA:739
Mitochondrial Trifunctional Protein Deficiency
Hypoketotic hypoglycemia, Chronic hepatic failure, Failure to thrive in infancy, Cholestasis, Dif... ORPHA:746
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Insulin resistance, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Pancreatitis, Splenome... ORPHA:280365
Monosomy 13Q34
Obesity, Hepatic steatosis, Insulin resistance ORPHA:96168
Craniopharyngioma
Polyphagia, Type II diabetes mellitus, Obesity ORPHA:54595
Hemochromatosis, Type 1
Cirrhosis, Elevated hepatic transaminase, Glucose intolerance, Hepatocellular carcinoma, Hepatome... OMIM:235200
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis OMIM:275630
Abdominal Obesity-Metabolic Syndrome 4
Hypertriglyceridemia, Type II diabetes mellitus, Obesity OMIM:618620
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight, Diabetes mellitus, Increased circulating cortisol level, Primary hypercort... OMIM:615830
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Insulin-Resistance Syndrome Type B
Abnormal oral glucose tolerance, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsuli... ORPHA:2298
Budd-Chiari Syndrome
Peritonitis, Cirrhosis, Elevated hepatic transaminase, Cholecystitis, Acute hepatic failure, Weig... ORPHA:131
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Elevated hepatic transaminase, Glucose intolerance, Impaired glucose tolerance, Failure to thrive... OMIM:610131
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated hepatic transaminase, Nonketotic hypoglycemia, Macrovesicular hepatic steatosis, Hepatom... OMIM:608836
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Micronodular cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatome... OMIM:203700
Pearson Syndrome
Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Hepatic steatosis, Macronodular... ORPHA:699
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Polyphagia ORPHA:251028
Chromosome 22Q13 Duplication Syndrome
Polyphagia OMIM:615538
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Decreased liver function, Hypoglycemia OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Decreased liver function, Hypoglycemia OMIM:618839
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hypoglycemia, Hepatomegaly, Cholestatic liver disease, Failure to thrive ORPHA:5
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia, Maturity-onset diabetes of the young, Truncal obesity, Small for gestationa... ORPHA:96184
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Nonketotic hypoglycemia, Weight loss, Acute pancreatitis, Hepatome... ORPHA:20
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Neonatal hypoglycemia, Microvesicular hepatic steatosis ORPHA:66634
7Q11.23 Microduplication Syndrome
Polyphagia, Obesity ORPHA:96121
Rajab Interstitial Lung Disease With Brain Calcifications 1
Slender build, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Cholestasis, Decrease... OMIM:613658
Subaortic Stenosis-Short Stature Syndrome
Obesity, Biliary tract abnormality, Type II diabetes mellitus ORPHA:3191
Telangiectasia, Hereditary Hemorrhagic, Type 5
Portal hypertension, Elevated hepatic transaminase OMIM:615506
Familial Pancreatic Carcinoma
Peritoneal abscess, Elevated hepatic transaminase, Extrahepatic cholestasis, Exocrine pancreatic ... ORPHA:1333
Visceral Steatosis, Congenital
Hepatic steatosis, Jaundice, Hypoglycemia OMIM:228100
Mitochondrial Trifunctional Protein Deficiency
Elevated hepatic transaminase, Hypoketotic hypoglycemia, Cholestasis, Small for gestational age, ... OMIM:609015
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Overweight, Elevated hepatic transaminase, Hypoketotic hypoglycemia, Hepatomegaly, Jaundice, Smal... ORPHA:26793
Central Precocious Puberty
Overgrowth, Increased body weight, Obesity ORPHA:759
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis, Failure to thrive OMIM:616672
Gangliocytoma
Polyphagia ORPHA:251937
Cog8-Cdg
Failure to thrive, Elevated hepatic transaminase, Hypoglycemia ORPHA:95428
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Increased body weight OMIM:182290
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis OMIM:610198
1P36 Deletion Syndrome
Polyphagia, Dysphagia, Hepatic steatosis, Failure to thrive, Abnormality of the spleen, Abnormali... ORPHA:1606
Abetalipoproteinemia
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Steatorrhea, Hypocholesterolemia, He... ORPHA:14
Tyrosinemia, Type I
Cirrhosis, Elevated hepatic transaminase, Hypertyrosinemia, Hepatocellular carcinoma, Acute hepat... OMIM:276700
Bardet-Biedl Syndrome 2
Diabetes mellitus, Obesity OMIM:615981
Senior-Loken Syndrome 9
Hepatic fibrosis, Obesity, Cholestasis OMIM:616629
Adnp Syndrome
Truncal obesity, Polyphagia, Oral-pharyngeal dysphagia ORPHA:404448
Pseudohypoparathyroidism Type 1C
Polyphagia, Obesity ORPHA:79444
Glycogen Storage Disease Ia
Xanthelasma, Elevated hepatic transaminase, Hepatocellular carcinoma, Hypoglycemia, Hepatomegaly,... OMIM:232200
Adrenocortical Carcinoma
Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased circulating... ORPHA:1501
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Hepatic steatosis, Hypoglycemia, Hepatomegaly, Failure to thrive, ... ORPHA:17
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia, Overweight, Type II diabetes mellitus ORPHA:401923
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Polyphagia OMIM:607485
Macrocephaly/Autism Syndrome
Hepatomegaly, Obesity, Splenomegaly OMIM:605309
Glycogen Storage Disease Ib
Xanthelasma, Elevated hepatic transaminase, Hepatocellular carcinoma, Hypoglycemia, Hepatomegaly,... OMIM:232220
Alström Syndrome
Abnormal liver physiology, Type II diabetes mellitus, Hyperlipidemia, Obesity, Cirrhosis, Insulin... ORPHA:64
Pseudohypoparathyroidism Type 1A
Polyphagia, Obesity ORPHA:79443
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Cholestasis, Hepatomegaly, Failure to thrive, S... OMIM:261515
Primary Sclerosing Cholangitis
Weight loss, Jaundice, Cirrhosis, Acute hepatic failure, Elevated alkaline phosphatase of hepatic... ORPHA:171
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Obesity OMIM:610628
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive, Splenomegaly OMIM:617591
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia OMIM:618838
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Increased body weight OMIM:614450
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Micronodular cirrhosis, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Nodular ... ORPHA:404454
Caroli Syndrome
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Chola... ORPHA:480520
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase OMIM:615356
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cirrhosis, Interlobular bile duct destruction, Interface hepatitis, Elevated hepatic transaminase... ORPHA:562639
Renal Cysts And Diabetes Syndrome
Maturity-onset diabetes of the young, Abnormality of alkaline phosphatase level, Exocrine pancrea... OMIM:137920
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Glucose intolerance, Macrovesicular hepatic steatosis, Hepatomegal... OMIM:619127
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Joubert Syndrome 8
Hepatomegaly, Prolonged neonatal jaundice, Obesity OMIM:612291
Turner Syndrome Due To Structural X Chromosome Anomalies
Cirrhosis, Elevated hepatic transaminase, Glucose intolerance, Hyperinsulinemia, Hepatic steatosi... ORPHA:99413
Turner Syndrome
Cirrhosis, Elevated hepatic transaminase, Glucose intolerance, Hyperinsulinemia, Hepatic steatosi... ORPHA:881
Mosaic Monosomy X
Cirrhosis, Elevated hepatic transaminase, Glucose intolerance, Hyperinsulinemia, Hepatic steatosi... ORPHA:99228
Monosomy X
Cirrhosis, Elevated hepatic transaminase, Glucose intolerance, Hyperinsulinemia, Hepatic steatosi... ORPHA:99226
Reynolds Syndrome
Elevated hepatic transaminase, Biliary cirrhosis, Steatorrhea, Hepatomegaly, Jaundice, Elevated c... OMIM:613471
Cimdag Syndrome
Hepatomegaly, Microvesicular hepatic steatosis, Cholelithiasis OMIM:619273
Atypical Werner Syndrome
Hyperinsulinemia, Fasting hyperinsulinemia, Hepatic steatosis, Insulin-resistant diabetes mellitu... ORPHA:79474
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Macrovesicular hepatic steatosis, Splenomegaly OMIM:617303
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Jaundice, Failure to thrive, Decreased circulating cortisol level, Hypoglycemia ORPHA:90790
Narcolepsy 7
Type II diabetes mellitus, Obesity OMIM:614250
Early-Onset Schizophrenia
Polyphagia ORPHA:96369
Glycogen Storage Disease Ic
Xanthelasma, Chronic pancreatitis, Hepatocellular carcinoma, Hypoglycemia, Hepatomegaly, Hyperlip... OMIM:232240
Arima Syndrome
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly OMIM:243910
Congenital Analbuminemia
Hypercholesterolemia, Small for gestational age, Hyperlipidemia, Obesity ORPHA:86816
Hepatocellular Carcinoma
Abnormality of the hepatic vasculature, Elevated hepatic transaminase, Hemobilia, Hypoglycemia, W... ORPHA:88673
Resistance To Thyrotropin-Releasing Hormone Syndrome
Prolonged neonatal jaundice, Overweight ORPHA:99832
Hellp Syndrome
Increased body weight, Increased circulating lactate dehydrogenase concentration, Elevated hepati... ORPHA:244242
Chromosome 1P36 Deletion Syndrome
Dysphagia, Polyphagia, Obesity OMIM:607872
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hepatic steatosis, Abdominal obesity OMIM:619321
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Wiedemann-Rautenstrauch Syndrome
Slender build, Hepatic steatosis, Hypertriglyceridemia, Failure to thrive, Type II diabetes mellitus ORPHA:3455
Homozygous Familial Hypercholesterolemia
Hypercholesterolemia, Hyperlipidemia, 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 Pank1

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 Pank1.

No publications found that use IMPC mice or data for Pank1.

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MGI Allele Allele Type Produced
Pank1em1(IMPC)Mbp Exon Deletion Mice

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