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Gene: Pygl MGI:97829

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Gene Summary

Name:
liver glycogen phosphorylase
Synonyms:
N/A

Order Alleles

IMPC Data Collections

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.

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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.

Eye Morphology

VIP of right fundus

16 Images

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Eye Morphology

VIP of right eye

16 Images

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Eye Morphology

VIP of left eye

16 Images

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Eye Morphology

VIP of left fundus

16 Images

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Human diseases caused by Pygl 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.

The table below shows human diseases associated to Pygl by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hyperlipidemia, Increased ... OMIM:232700
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hypog... ORPHA:369

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hyperlipidemia, Increased ... OMIM:232700
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami... OMIM:614480
Glycogen Storage Disease Iii
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hyperlip... OMIM:232400
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypermethioninemia OMIM:606664
Neonatal Hemochromatosis
Increased circulating iron concentration, Hypoglycemia, Increased circulating ferritin concentrat... ORPHA:446
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia OMIM:609016
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hypog... ORPHA:369
Hemochromatosis, Neonatal
Hepatic fibrosis, Hepatic failure, Increased circulating iron concentration, Hypoglycemia, Hepato... OMIM:231100
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent... OMIM:619658
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Elevated circulating aspartate aminotransferase con... OMIM:619874
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615158
Glycogen Storage Disease Ixa1
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hyperuricemi... OMIM:306000
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Increased hepatic glycogen content, Nonketotic hypoglycemia, Hypoglycem... ORPHA:293964
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Splenomegaly, Hyperammonemia, Cirrhosis, Anomalous splenoportal venous... OMIM:271500
Hemochromatosis, Type 2B
Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami... OMIM:613313
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Cholestasi... OMIM:619662
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Portal inflammation, Ballooning hepat... OMIM:603471
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Acute hepatic failure, Hepat... OMIM:278000
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... OMIM:616278
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... ORPHA:139507
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he... OMIM:613027
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia OMIM:261650
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Hepatitis, Increased circulating ferritin conc... OMIM:300635
Diarrhea 13
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Recu... OMIM:620357
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Hypertriglyceridemia, Insulin-resistant di... ORPHA:280356
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Hypoglycemia ORPHA:67046
Propionic Acidemia
Hepatomegaly, Propionyl-CoA carboxylase deficiency, Hyperammonemia, Hypoglycemia ORPHA:35
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:607765
Glycogen Storage Disease Ixb
Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly, Redu... OMIM:261750
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ... OMIM:620454
Hjv Or Hamp-Related Hemochromatosis
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... ORPHA:79230
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Portal fibrosis, Increased total bilir... OMIM:619868
Isolated Growth Hormone Deficiency, Type Ia
Prolonged neonatal jaundice, Hypoglycemia OMIM:262400
Hepatitis Delta
Hepatic failure, Hepatitis, Elevated circulating aspartate aminotransferase concentration, Cirrho... ORPHA:402823
Mpi-Cdg
Hypoalbuminemia, Hepatic fibrosis, Decreased liver function, Abnormal circulating enzyme concentr... ORPHA:79319
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Decreased plasma fre... OMIM:619048
Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, With Or Without Cerebellar Ataxia
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... OMIM:310490
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula... OMIM:613812
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly OMIM:616719
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... OMIM:600649
Hepatocellular Carcinoma
Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma OMIM:114550
Dihydrolipoamide Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decreased liver function, ... OMIM:246900
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis OMIM:613783
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ... OMIM:616829
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypocholesterolemia, Hypersplenism, Splenomegaly OMIM:610539
Fadd-Related Immunodeficiency
Hepatic fibrosis, Decreased liver function ORPHA:306550
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Hyperglycinemia, Hep... OMIM:619386
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Elevated gamma-glutamyltransferase l... OMIM:617093
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypogl... ORPHA:324575
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia... ORPHA:79240
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Hypoglycemia, Elevated circulating creatinine concentration, Hepatic steatosis, ... OMIM:617872
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Hepatitis, Hyponatremia, Decreased circulating cortisol level, Prolonged n... ORPHA:199296
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Hepatic bridging fibrosis, Portal inflammation, Elevated circulating alanine aminotransferase con... OMIM:613759
Coach Syndrome 2
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Portal fibrosis, Eleva... OMIM:619111
Galactosemia Iv
Hepatomegaly, Prolonged neonatal jaundice, Hypergalactosemia OMIM:618881
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Low plasma citr... OMIM:261680
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Skin rash, Splenomegaly, Hypertriglyceridemia OMIM:619175
Bile Acid Malabsorption, Primary, 2
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Decreased circulating chenodeoxych... OMIM:619481
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hypog... ORPHA:264580
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Transient... ORPHA:156
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Erysipelas, Neonatal cholestatic liver d... OMIM:214900
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Cirrhosis, Hyperinsulinemic hypoglycemia, Hep... OMIM:602579
Galactokinase Deficiency
Hypoglycemia, Hepatosplenomegaly, Abnormal circulating enzyme concentration or activity, Hyperins... ORPHA:79237
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated circulating hepatic transaminase concentration, Elevated circulating sebacic acid concen... OMIM:615160
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Porphyria Cutanea Tarda, Type I
Hepatic fibrosis, Eczematoid dermatitis OMIM:176090
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
Pediatric Hepatocellular Carcinoma
Hepatic fibrosis, Hepatic necrosis, Portal vein thrombosis, Hepatomegaly, Elevated circulating al... ORPHA:33402
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... OMIM:605911
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Periportal fibrosis, Elevated circulating hepatic transaminase concentr... OMIM:619484
Hepatitis, Fulminant Viral, Susceptibility To
Hepatic failure, Elevated circulating hepatic transaminase concentration, Type I diabetes mellitu... OMIM:618549
Porphyria Cutanea Tarda
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... ORPHA:101330
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Increased serum pyruvate, Hypoglycemia OMIM:614741
Pyruvate Dehydrogenase E3 Deficiency
Elevated circulating branched chain amino acid concentration, Hepatic failure, Elevated circulati... ORPHA:2394
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S... OMIM:620010
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... ORPHA:79303
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating enzyme concentration or activity, Abnormal circulating selenium concentratio... ORPHA:171706
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hepatic fibrosis, Type I diabetes mellitus, Hepatosplenomegaly, Chilbl... OMIM:619858
Macrophage Activation Syndrome
Hypoalbuminemia, Increased circulating lactate dehydrogenase concentration, Hepatitis, Decreased ... ORPHA:158061
Cholestasis, Progressive Familial Intrahepatic, 5
Hepatic failure, Hypoglycemia, Ascites, Elevated circulating aspartate aminotransferase concentra... OMIM:617049
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly ORPHA:466794
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E... OMIM:251880
Alpha-1-Antitrypsin Deficiency
Hepatic failure, Reduced circulating alpha-1-antitrypsin concentration, Hepatitis, Cholestasis, C... ORPHA:60
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... OMIM:255120
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
Gallbladder Disease 1
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... OMIM:600803
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypoglycemic seizures, Recurrent hypoglycemia, Hypoketotic ... ORPHA:276556
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ... ORPHA:79299
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Hepa... OMIM:201475
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul... ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul... ORPHA:276580
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Hepatic failure, Splenomegaly, Hypoglycemia ORPHA:664
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t... ORPHA:228305
Combined Oxidative Phosphorylation Deficiency 36
Elevated circulating aspartate aminotransferase concentration, Hyperalaninemia, Elevated circulat... OMIM:617950
Multiple Symmetric Lipomatosis
Hepatomegaly, Insulin resistance ORPHA:2398
Hepatoportal Sclerosis
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circula... ORPHA:64743
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic fibrosis, Hepatic failure, Cholestasis, Glucose intolerance, Splenomegaly, Hepatomegaly, ... OMIM:615630
Pyruvate Carboxylase Deficiency
Hepatomegaly, Increased serum pyruvate, Hyperalaninemia, Hypoglycemia OMIM:266150
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Mildly elevated creatine kinase, Elevated circulating hepatic transaminase concentration, Hepatic... OMIM:618400
Citrullinemia Type Ii
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decre... ORPHA:247585
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Decreased liver function, Hypoglycemia, ... ORPHA:42
Hepatorenocardiac Degenerative Fibrosis
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hepatosplenom... OMIM:619902
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated circulating hepatic transaminase concentration, Decreased circulating carnitine concentr... OMIM:201450
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hypocalcemia, Hyperchole... OMIM:612526
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Elevated circulating hepatic transaminase concentration, Glycosuria, ... ORPHA:2089
Retinitis Pigmentosa 89
Hepatic fibrosis, Hepatosplenomegaly, Intrahepatic bile duct dilatation, Micronodular cirrhosis OMIM:618955
Crigler-Najjar Syndrome, Type Ii
Reduced tissue UDP-glucuronyl-transferase activity, Jaundice, Elevated circulating hepatic transa... OMIM:606785
Bile Acid Synthesis Defect, Congenital, 4
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:214950
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra... ORPHA:79095
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Elevated gamma-glu... ORPHA:53035
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Recurrent otitis media, Splenomegaly, Hepatitis ORPHA:444463
Carnitine-Acylcarnitine Translocase Deficiency
Reduced tissue carnitine-acylcarnitine translocase activity, Elevated circulating hepatic transam... OMIM:212138
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic failure, Portal fibr... OMIM:617394
Carnitine Deficiency, Systemic Primary
Decreased circulating carnitine concentration, Recurrent hypoglycemia, Elevated circulating aspar... OMIM:212140
Cholesteryl Ester Storage Disease
Hepatic failure, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegal... ORPHA:75234
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... OMIM:618641
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Periportal fibrosis OMIM:213010
Systemic Primary Carnitine Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration ORPHA:158
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Hepatic failure, Glycosuria, Elevated circulating aspartate aminotran... ORPHA:2088
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... OMIM:616217
Primary Biliary Cholangitis
Elevated gamma-glutamyltransferase level, Xanthelasma, Elevated circulating alkaline phosphatase ... ORPHA:186
Congenital Disorder Of Glycosylation, Type Iih
Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c... OMIM:611182
Infantile Liver Failure Syndrome 2
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Acute hepatic failure, Hyp... OMIM:616483
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Elevated circulating aspartate aminotransferase concentr... OMIM:615558
Galactose Mutarotase Deficiency
Decreased liver function, Cholestasis, Abnormal circulating enzyme concentration or activity, Hep... ORPHA:570422
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatitis, Hyp... OMIM:614921
Combined Malonic And Methylmalonic Acidemia
Hypoglycemia, Elevated circulating hepatic transaminase concentration, Dicarboxylic acidemia, Met... ORPHA:289504
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Hepatic... ORPHA:209902
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia ORPHA:314802
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole... ORPHA:541423
Complement Component 4B Deficiency
Recurrent otitis media, Recurrent pneumonia, Recurrent sinusitis, Chronic active hepatitis OMIM:614379
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Glucose intolerance, Hepatic steatosis, Cirrhosis, ... OMIM:606069
Acth Deficiency, Isolated
Cholestasis, Jaundice, Fasting hypoglycemia, Decreased circulating cortisol level OMIM:201400
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoglycemia OMIM:618958
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypercholesterolemia, Hypoglycemic seizures, Incr... OMIM:620211
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... ORPHA:71212
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... OMIM:616860
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Hepatic steatosis ORPHA:26792
Galactosemia Iii
Splenomegaly, Decreased beta-galactosidase activity, Hepatomegaly, Jaundice, Hypergalactosemia OMIM:230350
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... OMIM:613404
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia, ... OMIM:616026
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Cholestatic liver disease, Elevated circulating hepatic transaminase concentration OMIM:602114
Isolated Biliary Atresia
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans... ORPHA:30391
Fetal Cytomegalovirus Syndrome
Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Hepatomegaly, J... ORPHA:294
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Splenomegaly, D... OMIM:607616
Autoimmune Hepatitis
Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Vir... ORPHA:2137
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Acute ... ORPHA:905
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentrat... OMIM:615703
Hepatic Veno-Occlusive Disease
Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Ascites, Hepa... ORPHA:890
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, Decreased liver function ORPHA:67048
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice OMIM:614876
Combined Oxidative Phosphorylation Deficiency 40
Hypoglycemia, Decreased circulating cortisol level, Decreased liver function, Elevated circulatin... OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Hypoglycemia, Decreased circulating cortisol level, Decreased liver function, Elevated circulatin... OMIM:618839
Interstitial Lung And Liver Disease
Hepatic fibrosis, Hepatic failure, Elevated gamma-glutamyltransferase level, Intraalveolar phosph... OMIM:615486
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Glycosuria, Hyperinsulinemia, Hypophosph... ORPHA:263455
Peroxisome Biogenesis Disorder 3B
Hepatomegaly, Elevated circulating phytanic acid concentration, Hypocholesterolemia, Steatorrhea OMIM:266510
Primary Sclerosing Cholangitis
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... ORPHA:171
Bile Acid Conjugation Defect 1
Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat... OMIM:619232
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Hyperglycemia, Hypertriglyceridemia, Hepatomegaly, Acute pan... OMIM:608600
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Immunodeficiency 47
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans... OMIM:300972
Beta-Thalassemia
Cholelithiasis, Hepatitis, Splenomegaly, Hepatomegaly, Abnormality of iron homeostasis ORPHA:848
Hemophagocytic Lymphohistiocytosis, Familial, 4
Conjunctivitis, Increased circulating ferritin concentration, Splenomegaly, Skin rash, Hypertrigl... OMIM:603552
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic ... OMIM:602347
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypermethioninemia, Hypoalbuminemia, Elevated circulating aspartate aminotransferase concentratio... OMIM:613752
Laurence-Moon Syndrome
Type II diabetes mellitus, Congenital hepatic fibrosis ORPHA:2377
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:235555
Chylomicron Retention Disease
Elevated circulating hepatic transaminase concentration, Hypocholesterolemia, Hepatic steatosis, ... ORPHA:71
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormality of the pancreas, Abnormal biliary tract morphology ORPHA:3032
Short Stature Due To Ghsr Deficiency
Hypoglycemia ORPHA:314811
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... ORPHA:411593
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased liver function, Acute hepatitis, Hyperornithinemia, Hyperammonemia, Hepatomegaly OMIM:238970
Wolman Disease
Acute hepatic failure, Hepatomegaly, Reduced lysosomal acid lipase activity, Splenomegaly OMIM:620151
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hepatic necrosis, Fulminant hepatic failure, Hepatic steatosis, Decreas... OMIM:231530
Glycogen Storage Disease Ia
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Xanthelasma, Hyperlipidemi... OMIM:232200
Crigler-Najjar Syndrome, Type I
Jaundice, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilirubinemia OMIM:218800
Biliary Atresia, Extrahepatic
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilir... OMIM:210500
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c... OMIM:617156
Alpha-1-Antitrypsin Deficiency
Elevated circulating hepatic transaminase concentration, Reduced circulating alpha-1-antitrypsin ... OMIM:613490
Dpm1-Cdg
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, He... ORPHA:79322
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Hypoglycemi... ORPHA:348
Donohue Syndrome
Postprandial hyperglycemia, Hepatic fibrosis, Cholestasis, Hyperglycemia, Hyperinsulinemia, Pancr... OMIM:246200
Congenital Bile Acid Synthesis Defect Type 1
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... ORPHA:79301
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho... OMIM:607626
Blue Diaper Syndrome
Increased proinsulin:insulin ratio, Elevated circulating hepatic transaminase concentration, Hype... ORPHA:94086
Trichohepatoenteric Syndrome 2
Decreased circulating iron concentration, Cirrhosis, Chronic hepatitis, Hepatomegaly, Colitis OMIM:614602
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,... OMIM:618528
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenic cys... OMIM:610199
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... ORPHA:69663
Lathosterolosis
Hepatic fibrosis, Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated ci... OMIM:607330
Citrullinemia, Type Ii, Neonatal-Onset
Elevated gamma-glutamyltransferase level, Hyperbilirubinemia, Hyperthreoninemia, Elevated circula... OMIM:605814
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Pancreatitis, Hyperammonemia, Hypoglycemia OMIM:620137
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatic fibrosis, Inflammation of the large intestine, Elevated circulating hepatic transaminase ... OMIM:615895
Classic Galactosemia
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Ascites, ... ORPHA:79239
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t... ORPHA:159
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatitis, Increased circulating ferritin concentration, Splenomegaly, Hepatomega... OMIM:194380
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Splenomegaly, Hypocalcemia, Hepatomegaly, Jaundice ORPHA:172
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Postprandial hyperglycemia, Hepatitis, Cholestasis, Portal hypertensio... ORPHA:440713
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Jaundice, Hyperbilirubinemia, Splenomegaly OMIM:237800
Meckel Syndrome, Type 3
Malformation of the hepatic ductal plate, Hepatic fibrosis, Bile duct proliferation, Hepatomegaly OMIM:607361
Adams-Oliver Syndrome 6
Hepatic fibrosis, Portal hypertension, Splenomegaly OMIM:616589
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Elevated circulating hepatic transaminase concentration, Splenom... ORPHA:75563
Senior-Loken Syndrome
Congenital hepatic fibrosis ORPHA:3156
Glycogen Storage Disease Ib
Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Hyp... OMIM:232220
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Ascites, Hypocholesterolemia, Splenomegaly, Hepatomegaly OMIM:608776
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
Lipodystrophy, Familial Partial, Type 5
Hepatic steatosis, Hypertriglyceridemia, Hepatomegaly, Increased C-peptide level, Diabetic ketoac... OMIM:615238
Immunodeficiency 104
Pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Recurrent otitis media, Sple... OMIM:608971
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma ORPHA:882
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia OMIM:240900
Transaldolase Deficiency
Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Hepatosplenomegaly, Splenomeg... OMIM:606003
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia OMIM:262700
Gilbert Syndrome
Jaundice, Hepatic failure, Elevated circulating hepatic transaminase concentration, Unconjugated ... OMIM:143500
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancreatitis, Hepatomegaly, Diabetes mel... ORPHA:79084
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Elevated circulating tetradecanoylcarnitine concentration, Hepatic failure, Elevated circulating ... OMIM:619355
Coach Syndrome 1
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Abnormal abdomen morph... OMIM:216360
Adult-Onset Still Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Abnormal circulating lipid co... ORPHA:829
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... ORPHA:1414
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver ORPHA:1980
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Hepatic failure, Hypoketotic hypoglycemia, Decr... ORPHA:157
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614727
Griscelli Syndrome
Hepatitis, Abnormal circulating lipid concentration, Ascites, Splenomegaly, Hepatomegaly, Jaundice ORPHA:381
Autoimmune Polyendocrine Syndrome, Type Ii
Hepatitis, Chronic mucocutaneous candidiasis, Exocrine pancreatic insufficiency, Type II diabetes... OMIM:269200
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Hepatic fibrosis, Portal hypertension OMIM:617341
Senior-Boichis Syndrome
Malformation of the hepatic ductal plate, Hepatic fibrosis, Elevated circulating hepatic transami... ORPHA:84081
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hepatitis ORPHA:363523
Mitochondrial Trifunctional Protein Deficiency 2
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Hyperammonemia, Elev... OMIM:620300
Joubert Syndrome 9
Hepatic fibrosis OMIM:612285
Caroli Syndrome
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... ORPHA:480520
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Inflammation of the large in... ORPHA:562639
Glycogen Storage Disease Ixd
Hypoglycemia, Reduced muscle phosphorylase kinase activity, Elevated circulating creatine kinase ... OMIM:300559
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, E... OMIM:615381
Immunodeficiency 56
Hepatic failure, Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic hepati... OMIM:615207
Inflammatory Pseudotumor Of The Liver
Elevated circulating aspartate aminotransferase concentration, Biliary tract abnormality, Neoplas... ORPHA:90003
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Reduced 3-methylcrotonyl CoA carboxylase activity in cultured fibroblasts, ... OMIM:210200
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Hypoketotic hypoglycemia, Cholestatic liver disease ORPHA:5
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Hyperglycinemia, Ele... OMIM:245400
Propionic Acidemia
Eczematoid dermatitis, Hypoglycemia, Propionyl-CoA carboxylase deficiency, Hyperglycinemia, Hyper... OMIM:606054
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... ORPHA:99901
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Giant cell hepatitis, Elevated gamma-glutamyltransferase level, Elevat... OMIM:208085
Mitochondrial Trifunctional Protein Deficiency 1
Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce... OMIM:609015
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Argininosuccinic Aciduria
Hepatic fibrosis, Elevated circulating aspartate aminotransferase concentration, Hyperammonemia, ... OMIM:207900
Dominant Beta-Thalassemia
Hepatic fibrosis, Abnormality of iron homeostasis, Hepatosplenomegaly, Hypersplenism, Splenomegal... ORPHA:231226
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce... ORPHA:26791
Hemochromatosis, Type 1
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... OMIM:235200
Mody
Abnormal oral glucose tolerance, Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Glyc... ORPHA:552
Avian Influenza
Hypoalbuminemia, Pneumonia, Myelitis, Elevated circulating hepatic transaminase concentration, In... ORPHA:454836
Isolated Polycystic Liver Disease
Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Increased total bilirubin ORPHA:2924
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Hypocholesterolemia OMIM:618810
Cholestasis, Benign Recurrent Intrahepatic, 1
Increased serum bile acid concentration, Intermittent jaundice, Pancreatitis, Intrahepatic choles... OMIM:243300
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen... OMIM:617068
Non-Acquired Isolated Growth Hormone Deficiency
Prolonged neonatal jaundice, Neonatal hypoglycemia ORPHA:631
Senior-Loken Syndrome 9
Cholestasis, Hepatic fibrosis, Tubulointerstitial nephritis OMIM:616629
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Increased total bilirubin,... OMIM:608836
Glutaric Acidemia I
Hepatomegaly, Elevated circulating glutaric acid concentration, Reduced peroxisomal glutaryl-CoA ... OMIM:231670
Lysosomal Acid Lipase Deficiency
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Decre... ORPHA:275761
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Ascit... OMIM:619487
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine k... OMIM:618838
Cog7-Cdg
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Elevated circulating... ORPHA:79333
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Splenomegaly, Elevated circulating alkaline phosphatase concentration, ... OMIM:601847
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Reduced tissue fructose-1,6-bisphosphatase activity, Hypoglycemia OMIM:229700
Long-Olsen-Distelmaier Syndrome
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Hyperammonemia, Card... OMIM:620609
Maple Syrup Urine Disease, Type Ia
Elevated circulating branched chain amino acid concentration, Hypoglycemia, Elevated circulating ... OMIM:248600
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly ORPHA:46532
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Hypertriglyceridemia,... ORPHA:79085
Fanconi-Bickel Syndrome
Hypouricemia, Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Postprandial hy... OMIM:227810
Cholestasis, Intrahepatic, Of Pregnancy, 1
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Increased seru... OMIM:147480
Graft Versus Host Disease
Pneumonia, Elevated circulating hepatic transaminase concentration, Inflammatory abnormality of t... ORPHA:39812
Nephronophthisis 16
Cholestasis, Periportal fibrosis, Enlarged kidney OMIM:615382
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Acute hepatic failure, Hyp... OMIM:615453
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transamin... OMIM:618329
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg... OMIM:615415
Abetalipoproteinemia
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypot... ORPHA:14
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Cholestasis, Benign Recurrent Intrahepatic, 2
Intrahepatic cholestasis, Cholelithiasis, Elevated circulating alkaline phosphatase concentration... OMIM:605479
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Microvesi... OMIM:611126
Galactosemia I
Increased level of galactitol in red blood cells, Decreased liver function, Elevated circulating ... OMIM:230400
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Abnormal circulating creatine kinase concentration, Elevated circulating hepatic tr... ORPHA:369840
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Hepatic failure, Hypoketotic hypoglycemia, Decr... ORPHA:228308
Autosomal Agammaglobulinemia
Bronchiectasis, Hepatitis, Osteomyelitis, Skin rash, Arthritis, Sinusitis, Conjunctivitis, Recurr... ORPHA:33110
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly ORPHA:2432
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Type I diabetes mellitus, Hepatitis, Acute hepatic failure, Hepatosplenomegaly, Hypersplenism, Po... ORPHA:228426
X-Linked Agammaglobulinemia
Recurrent pneumonia, Hepatitis, Osteomyelitis, Hypocalcemia, Skin rash, Recurrent cutaneous absce... ORPHA:47
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Mitochondrial Myopathy, Infantile, Transient
Hepatomegaly, Decreased circulating carnitine concentration, Increased serum pyruvate, Elevated c... OMIM:500009
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... OMIM:208540
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Hepatomegaly, Abnormality of the liver, Decreased circulating carnitine concentration, Mildly ele... ORPHA:254864
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia, Hyperammonemia, Abnormal circulating leucine concentration ORPHA:6
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia, Reactive hypoglycemia, Fasting hyperi... ORPHA:35878
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Elevated gamma-glutamyltransferase level, Hepatic failure, Micronodular cirrhosis, Hypoglycemia, ... OMIM:256810
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypoc... OMIM:212065
Methylmalonic Aciduria, Cblb Type
Decreased methylmalonyl-CoA mutase activity, Hypoglycemia, Elevated circulating propionylcarnitin... OMIM:251110
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Recurrent pneumonia, Hepatitis, Hepatosplenomegaly, Otitis media, Erythroderma, Chroni... ORPHA:169160
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Decreased LDL cholesterol concentratio... OMIM:246700
Peroxisome Biogenesis Disorder 1B
Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hyperoxaluria OMIM:601539
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Cholestasis, Microvesicular hepatic steatosis, Increased serum... OMIM:619377
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Increased circulating free fatty acid level, Elevated circulating hepatic transaminase... ORPHA:26793
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Decreased liver function OMIM:614870
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Nodular regenerative hyperplasia of liver, Abnormality of the hepatic vasculature, Elevated circu... ORPHA:210136
Combined Oxidative Phosphorylation Deficiency 9
Elevated gamma-glutamyltransferase level, Elevated circulating aspartate aminotransferase concent... OMIM:614582
Beta-Thalassemia Major
Hepatic fibrosis, Abnormality of iron homeostasis, Hepatosplenomegaly, Hypersplenism, Splenomegal... ORPHA:231214
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating glutaric acid concentration, Glycosuria, Hypoglycemia, Hepatic periportal ne... OMIM:231680
Congenital Enterovirus Infection
Hypoalbuminemia, Hepatic failure, Fetal ascites, Hepatitis, Cholestasis, Hyperammonemia, Skin ras... ORPHA:292
Solitary Fibrous Tumor
Hypoglycemia, Pelvic mass, Recurrent hypoglycemia, Hypophosphatemic rickets, Neoplasm of the live... ORPHA:2126
Protoporphyria, Erythropoietic, X-Linked
Cholelithiasis, Elevated circulating hepatic transaminase concentration, Increased erythrocyte pr... OMIM:300752
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Type I diabetes mellitus, Hepatitis, Hypersplenism, Portal hypertension, Splenomegaly, Hashimoto ... OMIM:613385
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hypoglycemia, Hyperglycinemia, Hyperammonemia, Pancreatitis, Hepatomegaly, Tubulointerstitial nep... OMIM:251000
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia OMIM:610090
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Reduced circulating acyl-CoA oxidase activity, Elevated circulating hepatic transam... OMIM:264470
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Crusting erythematous dermatitis, ... ORPHA:37042
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Elevated gamma-glutamyltransferase level, Elevated cir... OMIM:619463
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Hepatic steatosis, Pancreatitis, Elevated circulating alanine aminotransferase c... OMIM:618805
Cryoglobulinemic Vasculitis
Abnormality of the liver, Splenomegaly, Keratoconjunctivitis sicca, Arthritis, Hepatomegaly, Vira... ORPHA:91138
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Elevated circulating ... ORPHA:435660
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Cirrhosis, Hypertriglyceridemia, Hepatom... ORPHA:363400
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Hepatic cysts, Splenomegaly, Hepatome... OMIM:263200
Hemochromatosis, Type 2A
Increased circulating iron concentration, Increased circulating ferritin concentration, Splenomeg... OMIM:602390
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Splenomegaly, Pancreatitis, Hypercholesterolemia... OMIM:207750
Tyrosinemia, Type I
Hypermethioninemia, Elevated circulating alpha-fetoprotein concentration, Hepatic failure, Elevat... OMIM:276700
Congenital Bile Acid Synthesis Defect Type 3
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... ORPHA:79302
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, In... ORPHA:247598
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Decreased circulating carnitine concentration, Reduced HMG-CoA lyase activity in cultured fibrobl... OMIM:246450
Isobutyryl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Decreased circulating car... ORPHA:79159
Late-Onset Isolated Acth Deficiency
Type I diabetes mellitus, Hepatitis, Hypoglycemia, Hyperuricemia, Hyponatremia, Decreased circula... ORPHA:199299
Dubin-Johnson Syndrome
Abnormality of the liver, Biliary tract abnormality, Hepatomegaly, Jaundice, Conjugated hyperbili... ORPHA:234
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Psoriasiform dermatitis, Decreased LDL cholesterol concentration, Decreased ... OMIM:616834
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Polysplenia, Hypoglycemia, Exocrine pancreatic insuf... OMIM:619418
Hemochromatosis, Type 3
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... OMIM:604250
Drug Reaction With Eosinophilia And Systemic Symptoms
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Inters... ORPHA:139402
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Exocrine pancreatic insufficiency, Hepatic steatosis, Pancreatic fibrosis, Hepa... OMIM:616263
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Atopic dermatitis, Conjunctivitis, Pa... OMIM:620376
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated circulating hepatic transaminase concentration, Cardiomegaly, Hyperprolinemia, Hyperalan... OMIM:619064
Neutral Lipid Storage Disease With Myopathy
Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Splenomegaly, Hepa... OMIM:610717
Hemoglobin H Disease
Hepatomegaly, Splenomegaly OMIM:613978
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Type I diabetes mellitus, Eczematoid dermatitis, Hepatitis, Erythroderma, Glomerulonephritis, Art... OMIM:304790
Immunodeficiency With Hyper-Igm, Type 1
Hepatitis, Splenomegaly, Sclerosing cholangitis, Enteroviral encephalitis, Cirrhosis, Chronic hep... OMIM:308230
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Splenomegaly OMIM:606445
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Splenomegaly OMIM:619462
Alstrom Syndrome
Nephritis, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Insulin-... OMIM:203800
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Hep... OMIM:619013
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans... OMIM:124000
Cog4-Cdg
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Elevated circulating... ORPHA:263501
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Hyperprolinemia, Increased serum pyruvate, Hyperalaninemia, Neonatal hypoglycemia OMIM:619046
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Hereditary Fructose Intolerance
Hypermagnesemia, Reduced circulating aldolase concentration, Reactive hypoglycemia, Hyperuricemia... ORPHA:469
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hyperammonemia, Hypoglycemia, Elevated circulating creatine kinase concentration OMIM:618120
Congenital Generalized Lipodystrophy
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Cirrhosis, Hypercholesterolemia, Hypertr... ORPHA:528
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Hypoglycemia OMIM:615026
Congenital Disorder Of Glycosylation, Type Iij
Hepatic failure, Elevated circulating hepatic transaminase concentration, Splenomegaly, Elevated ... OMIM:613489
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Hypermethioninemia, Increased circulating iro... OMIM:222470
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatitis, Decreased li... ORPHA:415
Endocardial Fibroelastosis
Hypoglycemia ORPHA:2022
Legionnaires Disease
Hepatitis, Splenomegaly, Infectious encephalitis, Hyponatremia, Pancreatitis, Myocarditis, Jaundi... ORPHA:549
Cidec-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Hepatic steatosis, Pancreatitis, Hypertriglyceridemia, Hepat... ORPHA:435651
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Laron Syndrome
Osteoarthritis, Hypercholesterolemia, Hypoglycemia ORPHA:633
Harderoporphyria
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Splenomegaly, Hepatome... OMIM:618892
Lichen Planopilaris
Hepatitis ORPHA:525
Hypermanganesemia With Dystonia 1
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased tota... OMIM:613280
Mednik Syndrome
Cholestasis, Hepatic fibrosis, Increased circulating very long-chain fatty acid concentration, Ci... OMIM:609313
Cog8-Cdg
Elevated circulating hepatic transaminase concentration, Hypoglycemia ORPHA:95428
Congenital Disorder Of Glycosylation, Type Iie
Decreased liver function, Hypoglycemia, Elevated circulating aspartate aminotransferase concentra... OMIM:608779
Hsd10 Mitochondrial Disease
Hypoglycemia, Elevated circulating tiglylglycine concentration OMIM:300438
Alpha-Heavy Chain Disease
Ascites, Hepatomegaly, Splenomegaly, Hypocalcemia ORPHA:100025
Immunodeficiency 59 And Hypoglycemia
Arteritis, Acne inversa, Hypoglycemia, Herpes simplex encephalitis, Recurrent aphthous stomatitis... OMIM:233600
Mcleod Syndrome
Elevated gamma-glutamyltransferase level, Increased circulating lactate dehydrogenase concentrati... OMIM:300842
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice OMIM:613977
Autosomal Recessive Polycystic Kidney Disease
Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Hypersplenism, Congeni... ORPHA:731
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Pneumonia, Hepatitis, Fasciitis, Elevated circulating creatinine concentration, ... ORPHA:36234
Fructose Intolerance, Hereditary
Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia, Hyperbilirubin... OMIM:229600
Mulibrey Nanism
Hepatomegaly ORPHA:2576
Farber Disease
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Ascit... ORPHA:333
B4Galt1-Cdg
Elevated circulating hepatic transaminase concentration, Inflammatory abnormality of the skin, Ab... ORPHA:79332
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Periodontitis, Xanthelasma, Hepatic steatosis, Hepatomegaly,... ORPHA:79259
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Splenomegaly, Hepatic steatosis, Hyperur... ORPHA:79083
Liver Failure, Infantile, Transient
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, ... OMIM:613070
Melioidosis
Pneumonia, Foot osteomyelitis, Hepatitis, Cutaneous abscess, Parotitis, Abnormality of the spleen... ORPHA:31202
Combined Oxidative Phosphorylation Deficiency 1
Cholestasis, Hepatomegaly, Fulminant hepatic failure OMIM:609060
Glycogen Storage Disease Ic
Inflammation of the large intestine, Hypoglycemia, Xanthelasma, Chronic pancreatitis, Hyperlipide... OMIM:232240
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia, Ascites, Hyperammonemia, Cardiomegaly, Hyperalaninemia OMIM:614702
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Minimal change glomerulonephritis, Intraalveolar phospholipid accumulation, Hepatitis, Eczematoid... OMIM:620565
Coproporphyria, Hereditary
Hepatomegaly, Jaundice, Splenomegaly OMIM:121300
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Hepatomegaly, Erysipelas, Elevated circulating creatine kinase concentration OMIM:615704
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Allergic rhinitis, Exocrine pancreatic insufficiency, Splenomegaly, Skin rash, Hepatomegaly, Jaun... OMIM:612714
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Hepatic failure, Splenomegaly, Infectious encephalitis, Elevated circulating C-r... OMIM:308240
Q Fever
Pneumonia, Elevated circulating hepatic transaminase concentration, Hepatitis, Osteomyelitis, Hep... ORPHA:781
Joubert Syndrome With Hepatic Defect
Elevated circulating hepatic transaminase concentration, Portal hypertension, Splenomegaly, Conge... ORPHA:1454
Retinitis Pigmentosa 59
Hepatomegaly, Elevated circulating hepatic transaminase concentration OMIM:613861
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio... ORPHA:65682
Heme Oxygenase 1 Deficiency
Nephritis, Increased circulating lactate dehydrogenase concentration, Increased circulating ferri... OMIM:614034
Wilson Disease
Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Elevated c... OMIM:277900
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom... OMIM:211600
Hardikar Syndrome
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... OMIM:301068
Mhc Class Ii Deficiency 1
Chronic mucocutaneous candidiasis, Infectious encephalitis, Biliary tract abnormality, Colitis, C... OMIM:209920
Immunodeficiency 42
Recurrent aphthous stomatitis, Splenomegaly, Recurrent cutaneous fungal infections, Hepatomegaly,... OMIM:616622
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Hyperammonemia ORPHA:28
Pyridoxal Phosphate-Responsive Seizures
Hypoglycemia, Abnormal circulating arginine concentration, Abnormal circulating glycine concentra... ORPHA:79096
Cirrhosis, Familial
Biliary cirrhosis, Micronodular cirrhosis, Ascites, Increased level of propylene glycol in blood,... OMIM:215600
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoornithinemia, Hypoglycemia, Hyperammonemia, Hyperprolinemia, Hyperglutaminemia, Low plasma ci... OMIM:615751
Immunodeficiency 10
Recurrent pneumonia, Hypoglycemia, Recurrent otitis media, Splenomegaly, Hepatomegaly OMIM:612783
Tangier Disease
Decreased HDL cholesterol concentration, Splenomegaly, Elevated circulating apolipoprotein A-II c... OMIM:205400
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Xanthelasma, Increased LDL cholesterol concentration, Go... ORPHA:412
Congenital Toxoplasmosis
Elevated circulating hepatic transaminase concentration, Ascites, Cardiomegaly, Hepatomegaly, Jau... ORPHA:858
2P21 Microdeletion Syndrome
Hypocalcemia, Hypoglycemia ORPHA:163693
Acquired Generalized Lipodystrophy
Insulin resistance, Abnormal circulating lipid concentration, Insulin-resistant diabetes mellitus... ORPHA:79086
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hep... OMIM:615438
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Pneumonia, Recurrent pneumonia, Rheumatoid arthritis, Bronchiectasis, Atopic d... ORPHA:183675
Aspergillosis
Pneumonia, Keratitis, Hepatitis, Osteomyelitis, Infectious encephalitis, Sinusitis, Bronchiectasis ORPHA:1163
Immunodeficiency 114, Folate-Responsive
Atopic dermatitis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridem... OMIM:620603
Joubert Syndrome 6
Hepatic fibrosis, Bile duct proliferation OMIM:610688
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Mehmo Syndrome
Hypoglycemia OMIM:300148
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Spleno... OMIM:610333
Hsd10 Disease, Infantile Type
Cardiomegaly, Abnormal circulating enzyme concentration or activity, Hyperammonemia, Hypoglycemia ORPHA:391428
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatic failure, Elevated circulating hepatic transaminase concentration, Increased circulating l... ORPHA:158057
Griscelli Syndrome Type 2
Hepatomegaly, Jaundice, Hyperlipidemia, Splenomegaly ORPHA:79477
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Decrea... ORPHA:367
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce... ORPHA:480864
Alg12-Cdg
Hypoalbuminemia, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Re... ORPHA:79324
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Peroxisome Biogenesis Disorder 7A (Zellweger)
Hepatomegaly, Jaundice, Elevated circulating tetracosanoic acid concentration, Elevated circulati... OMIM:614872
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Unconjugated hyperbilirubinemia, Reduced red cell pyruvate kinase level, Splenome... OMIM:266200
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent otitis media, Elevated circulating aspartate aminotransferase concentration, Hepatosple... OMIM:615559
Myasthenia Gravis
Rheumatoid arthritis, Glycosuria, Hepatitis, Hashimoto thyroiditis, Myositis ORPHA:589
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated gamma-glutamyltransferase level, Elevated circulating creatinine concentration, Hepatic ... OMIM:613095
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Neonatal hypoglycemia, Hypoglycemia ORPHA:231140
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly OMIM:607685
Wolcott-Rallison Syndrome
Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Elevated circulating hepatic trans... ORPHA:1667
Budd-Chiari Syndrome
Elevated circulating hepatic transaminase concentration, Ascites, Acute hepatic failure, Portal h... ORPHA:131
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hepatic fibrosis, Nephritis, Bile duct proliferation, Pancreatic fibrosis, Jaundice, Pancreatic c... OMIM:208500
Beta-Ketothiolase Deficiency
Hypoglycemia, Hyperglycemia, Hyperammonemia, Hyperuricemia, Hepatomegaly ORPHA:134
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... OMIM:262190
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Hypoglycemia ORPHA:231147
Hyperlipoproteinemia, Type Id
Increased circulating chylomicron concentration, Splenomegaly, Hypertriglyceridemia, Hyperlipopro... OMIM:615947
Meckel Syndrome, Type 6
Hepatic fibrosis, Absent gallbladder, Hepatic cysts, Bile duct proliferation, Cystic liver disease OMIM:612284
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Hypoalbuminemia, Elevated circulating hepatic transaminase concentrati... ORPHA:540
Cardiomyopathy, Familial Restrictive, 6
Ascites, Hepatomegaly, Portal vein hypoplasia, Hepatic artery hyperplasia OMIM:619433
Symptomatic Form Of Hfe-Related Hemochromatosis
Increased circulating ferritin concentration, Hyperglycemia, Portal hypertension, Splenomegaly, C... ORPHA:465508
Wolman Disease
Hepatic failure, Ascites, Splenomegaly, Hepatomegaly, Steatorrhea ORPHA:75233
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly ORPHA:86893
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Ascites, Pancreatic fibrosis, Hepatomegaly, Enlarged kidney OMIM:200995
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... OMIM:267700
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transamin... OMIM:242150
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Pneumonia, Hypoglycemia, Hyponatremia, Decreased circulating cortisol level, Jaundice, Hyperkalemia ORPHA:90790
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Leber Congenital Amaurosis 1
Hepatomegaly, Hyperthreoninemia OMIM:204000
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Increased circulati... OMIM:619644
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Elevated circulating hepatic transaminase concentration, Abnormality of the liver, Glucose intole... OMIM:610131
Neutral Lipid Storage Myopathy
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... ORPHA:98908
Malonyl-Coa Decarboxylase Deficiency
Hypoglycemia, Reduced malonyl-CoA decarboxylase activity in cultured fibroblasts OMIM:248360
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Interstitial Nephritis, Karyomegalic
Elevated circulating hepatic transaminase concentration, Glycosuria, Elevated circulating creatin... OMIM:614817
Immunodeficiency By Defective Expression Of Mhc Class Ii
Chronic mucocutaneous candidiasis, Skin rash, Sclerosing cholangitis, Decreased circulating beta-... ORPHA:572
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Hyp... ORPHA:90363
Insulinoma
Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hype... ORPHA:97279
Hereditary Chronic Pancreatitis
Abnormal circulating enzyme concentration or activity, Pancreatic calcification, Recurrent pancre... ORPHA:676
Familial Partial Lipodystrophy, Dunnigan Type
Insulin resistance, Splenomegaly, Hepatic steatosis, Pancreatitis, Hypertriglyceridemia, Hepatome... ORPHA:2348
Shigellosis
Pneumonia, Hepatic failure, Conjunctivitis, Hypoglycemia, Ulcerative colitis, Cholestasis, Hypona... ORPHA:810
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis OMIM:263210
Preeclampsia
Elevated circulating creatinine concentration, Abnormality of the hepatic vasculature, Elevated c... ORPHA:275555
Seckel Syndrome 10
Insulin resistance, Glycosuria, Elevated circulating aspartate aminotransferase concentration, Gl... OMIM:617253
Amyloidosis, Hereditary Systemic 2
Cholestasis, Hepatomegaly, Skin rash, Splenomegaly OMIM:105200
Alg2-Cdg
Hepatomegaly, Abnormal circulating enzyme concentration or activity ORPHA:79326
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Increased circulating very long-chain fatty acid concentration OMIM:614859
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hepatomegaly, Elevated circulating hepatic transaminase concentration OMIM:613561
Leishmaniasis
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatomeg... ORPHA:507
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Cholelithiasis, Type I diabetes mellitus, Chronic mucocutaneous candidiasis, ... OMIM:240300
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce... OMIM:616878
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice ORPHA:59303
Peroxisome Biogenesis Disorder 13A (Zellweger)
Intrahepatic cholestasis, Increased circulating very long-chain fatty acid concentration, Elevate... OMIM:614887
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Hyperalaninemia, Hyperammonemia, Hypoglycemia OMIM:614739
Maternal Uniparental Disomy Of Chromosome 4
Type I diabetes mellitus, Hypocholesterolemia, Abetalipoproteinemia, Elevated circulating creatin... ORPHA:96180
Primary Triglyceride Deposit Cardiomyovasculopathy
Inflammatory abnormality of the skin, Abnormal circulating enzyme concentration or activity, Hype... ORPHA:565612
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome