Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Hmgcs2 MGI:101939

Gene Summary

Name:

3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2

Synonyms:

mHS

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

No results meet the p-value threshold

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Hmgcs2 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.

Human diseases associated with Hmgcs2 (2 diseases)
Human diseases predicted to be associated with Hmgcs2 (638 diseases)

The table below shows human diseases associated to Hmgcs2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency		Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a...	OMIM:605911
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency			ORPHA:35701

The table below shows human diseases predicted to be associated to Hmgcs2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Splenomegaly, H...	OMIM:614480
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ...	OMIM:232700
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy	OMIM:619175
Glycine N-Methyltransferase Deficiency	Elevated hepatic transaminase, Hepatomegaly	OMIM:606664
Congenital Disorder Of Glycosylation, Type Icc	Hepatomegaly	OMIM:301031
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Short sta...	OMIM:612526
Combined Oxidative Phosphorylation Deficiency 16	Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El...	OMIM:615395
Rft1-Cdg	Hepatomegaly, Failure to thrive, Arthrogryposis multiplex congenita, Short stature	ORPHA:244310
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Failure to thrive, Lethargy	ORPHA:28
Short Chain Acyl-Coa Dehydrogenase Deficiency	Lethargy, Failure to thrive, Hepatic steatosis, Intrauterine growth retardation	ORPHA:26792
Diarrhea 13	Elevated hepatic transaminase, Failure to thrive, Hepatic steatosis	OMIM:620357
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Increased muscl...	OMIM:610717
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly	ORPHA:294
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a...	OMIM:619874
Mitochondrial Complex I Deficiency, Nuclear Type 3	Hepatomegaly, Lethargy	OMIM:618224
Morbid Obesity And Spermatogenic Failure	Hypercholesterolemia, Hypertriglyceridemia, Hepatic steatosis, Obesity	OMIM:615703
Mulibrey Nanism	Hepatomegaly, Short stature, Cachexia, Intrauterine growth retardation	ORPHA:2576
Plin1-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	ORPHA:280356
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619048
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Elevated hepatic transaminase, Hepatomegaly, Growth delay, Lethargy, Failure to thrive	OMIM:613561
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Lethargy	OMIM:619064
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly	ORPHA:79281
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Severe short-limb dwarfism, Hypertriglyceridemia, Hepatic steatosis	ORPHA:436182
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Elevated hepatic transaminase, Hepatic steatosis	OMIM:618400
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Lethargy, Failure to thrive	ORPHA:79283
Obesity And Hypopigmentation	Hepatic steatosis, Obesity	OMIM:620195
Combined Oxidative Phosphorylation Deficiency 2	Elevated hepatic transaminase, Lethargy, Small for gestational age, Neonatal death	OMIM:610498
Congenital Disorder Of Glycosylation, Type Iip	Elevated hepatic transaminase, Hypercholesterolemia, Hepatic steatosis, Decreased liver function	OMIM:616829
Multiple Symmetric Lipomatosis	Hepatomegaly, Abnormal adipose tissue morphology, Multiple lipomas	ORPHA:2398
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Splen...	OMIM:619868
3-Methylglutaconic Aciduria Type 1	Hepatomegaly, Failure to thrive	ORPHA:67046
Congenital Disorder Of Glycosylation, Type Iir	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu...	OMIM:301045
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Microv...	OMIM:212140
Homocystinuria Without Methylmalonic Aciduria	Lethargy, Failure to thrive	ORPHA:622
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Failure to thrive, Hepatic failure, Hepatic steatosis	OMIM:617872
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Short stature, Hyperlipidemia, Gr...	ORPHA:369
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Hepatic steatosis, Pancreatitis, Lipoatrophy	ORPHA:79084
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Macrovesicular hepatic steatosis, Leth...	OMIM:600649
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hepatic st...	OMIM:615438
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Elevated hepatic transaminase, Short stature, Hyperlipidemia, Lethargy, Failure to thrive	ORPHA:2089
Galactose Epimerase Deficiency	Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Growth delay	ORPHA:79238
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:255120
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic failure, Hepatic steatosis	OMIM:261650
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Hepatomegaly, Large for gestational age	ORPHA:2432
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat...	ORPHA:905
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Failure to thrive in infancy, Elevated circulating alanine aminotransferase concent...	OMIM:618805
Hemochromatosis, Type 2A	Splenomegaly, Hepatomegaly, Lethargy, Cirrhosis	OMIM:602390
Lipodystrophy, Partial, Acquired, Susceptibility To	Loss of subcutaneous adipose tissue from upper limbs, Hepatic steatosis, Loss of truncal subcutan...	OMIM:608709
Dihydrolipoamide Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Lethargy	OMIM:246900
Lipodystrophy, Familial Partial, Type 4	Lipoatrophy, Lipodystrophy, Hepatic steatosis, Hypertriglyceridemia	OMIM:613877
Sandhoff Disease	Splenomegaly, Hepatomegaly, Abnormal glycosphingolipid metabolism, Failure to thrive	ORPHA:796
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Failure to thrive, Macrovesicular hepatic steatosis	OMIM:618234
Developmental And Epileptic Encephalopathy 40	Lethargy, Small for gestational age, Intrauterine growth retardation	OMIM:617065
Pyruvate Dehydrogenase E3 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Lethargy, Failure to thrive	ORPHA:2394
Methylmalonic Acidemia With Homocystinuria	Lethargy, Failure to thrive	ORPHA:26
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Splenomegaly, Lethargy, Failure to thrive, Pancreatitis	ORPHA:79312
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C...	ORPHA:79301
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Cachexia, Cardiomegaly, Distal arthrogryposis, Decre...	ORPHA:42
Cholesteryl Ester Storage Disease	Acute hepatic failure, Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Elevated circulatin...	OMIM:278000
Cidec-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435651
Hypothyroidism, Congenital, Nongoitrous, 7	Growth delay, Lethargy, Short stature	OMIM:618573
Galactose Mutarotase Deficiency	Hepatomegaly, Failure to thrive, Decreased liver function, Cholestasis	ORPHA:570422
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Short stature, Splenomegaly, Jaundice, Cholestasis, Failure to thrive	ORPHA:172
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614582
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a...	OMIM:605911
Crigler-Najjar Syndrome	Lethargy, Jaundice, Abnormality of the liver	ORPHA:205
Hyperinsulinism Due To Ucp2 Deficiency	Diffuse pancreatic islet hyperplasia, Large for gestational age, Lethargy, Hepatomegaly	ORPHA:276556
Galactosemia Iii	Splenomegaly, Hepatomegaly, Jaundice, Failure to thrive	OMIM:230350
Dihydropyrimidine Dehydrogenase Deficiency	Growth delay, Lethargy, Failure to thrive	OMIM:274270
Mitochondrial Complex I Deficiency, Nuclear Type 5	Growth delay, Hepatomegaly, Failure to thrive, Lethargy	OMIM:618226
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Lipodystrophy, Hepatic steatosis, Hypertriglyceridemia	OMIM:615238
Idiopathic Copper-Associated Cirrhosis	Hepatic steatosis, Copper accumulation in liver, Cirrhosis	ORPHA:209919
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Large for gestational age, Diffuse pancreatic islet hyperplasia, Focal pancreatic i...	ORPHA:276575
Immunodeficiency 48	Splenomegaly, Hepatomegaly, Failure to thrive	OMIM:269840
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Increased intraabdominal fat, Hepatic steatosis	ORPHA:79085
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Lethargy	OMIM:201450
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Small for gestational age, Lethargy, Large for gestational age	ORPHA:324575
Combined Oxidative Phosphorylation Deficiency 52	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:619386
Ddost-Cdg	Elevated hepatic transaminase, Lipodystrophy, Short stature, Failure to thrive, Hepatic steatosis	ORPHA:300536
Citrullinemia Type Ii	Elevated hepatic transaminase, Hepatomegaly, Decreased body mass index, Hypertriglyceridemia, Hyp...	ORPHA:247585
Lipodystrophy, Familial Partial, Type 6	Abdominal obesity, Lipodystrophy, Hepatic steatosis, Hyperlipidemia	OMIM:615980
Patent Ductus Venosus	Hepatic steatosis, Decreased liver function	OMIM:601466
Lethal Infantile Mitochondrial Myopathy	Lethargy, Fatal liver failure in infancy	ORPHA:254857
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Acute hepatic steatosis, Cholesterol galls...	ORPHA:209902
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver, Intrauterine growth retardation	ORPHA:1980
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatomegaly, Decreased liver function, Acute hepatitis, Failure to thrive, Lethargy	OMIM:238970
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Large for gestational age, Lethargy, Hepatomegaly	ORPHA:276580
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Transient hyperlipidemia, Lethargy, Hepatic failure	ORPHA:156
Peroxisomal Acyl-Coa Oxidase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Diffuse hep...	OMIM:264470
Hjv Or Hamp-Related Hemochromatosis	Elevated hepatic transaminase, Congenital hepatic fibrosis, Abnormality of endocrine pancreas phy...	ORPHA:79230
Combined Oxidative Phosphorylation Deficiency 21	Neonatal death, Hepatic steatosis	OMIM:615918
Lipodystrophy, Familial Partial, Type 1	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride...	OMIM:608600
Acquired Partial Lipodystrophy	Lipoatrophy, Hepatic steatosis	ORPHA:79087
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Postnatal g...	ORPHA:79303
Lipe-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435660
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Reduced intraabdominal a...	ORPHA:363400
Immunodeficiency 104	Splenomegaly, Hepatomegaly, Failure to thrive secondary to recurrent infections	OMIM:608971
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili...	ORPHA:567983
Hepatic Veno-Occlusive Disease	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight, Ascites	ORPHA:890
Chylomicron Retention Disease	Elevated hepatic transaminase, Hypertriglyceridemia, Steatorrhea, Growth delay, Hypocholesterolem...	ORPHA:71
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Failure to thrive, Lethargy	OMIM:210200
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr...	OMIM:603471
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn...	ORPHA:139507
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Lethargy, Pancreatic islet-cell hyperplasia, Increased body weight	ORPHA:276608
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Weight loss	ORPHA:86893
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Lethargy, Failure to thrive, Short stature, Hepatosplenomegaly	OMIM:611590
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hypert...	OMIM:615381
Congenital Disorder Of Glycosylation, Type In	Hepatomegaly, Failure to thrive, Short stature	OMIM:612015
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Growth delay, Hepatomegaly, Pancreatitis, Lethargy	ORPHA:289916
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Splen...	OMIM:620010
Glycogen Storage Disease Ixb	Hepatomegaly, Short stature, Splenomegaly, Increased muscle glycogen content, Growth delay, Incre...	OMIM:261750
Systemic Primary Carnitine Deficiency	Elevated hepatic transaminase, Hepatomegaly	ORPHA:158
Adrenomyodystrophy	Failure to thrive, Hepatic steatosis, Short stature	ORPHA:977
Hereditary Central Diabetes Insipidus	Growth delay, Lethargy, Weight loss	ORPHA:30925
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Postnatal growth retardation, ...	OMIM:613027
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly	OMIM:609016
Familial Chylomicronemia Syndrome	Acute pancreatitis, Hypertriglyceridemia, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Depressio...	ORPHA:444490
Lipodystrophy, Familial Partial, Type 3	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	OMIM:604367
Hemochromatosis, Type 4	Hepatomegaly, Hepatic steatosis, Cirrhosis	OMIM:606069
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat...	OMIM:615595
Congenital Generalized Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Adipose tissue loss, Cirrhosis, Hypercholester...	ORPHA:528
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Increased body weight, Pa...	ORPHA:263455
Mitochondrial Myopathy, Infantile, Transient	Increased muscle glycogen content, Hepatomegaly, Failure to thrive, Increased muscle lipid content	OMIM:500009
Gracile Syndrome	Cholestasis, Cirrhosis, Elevated hepatic iron concentration, Intrauterine growth retardation, Hep...	ORPHA:53693
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Cardiomegaly, Hepatocellular necrosis, Periportal fibrosis, Lethargy, Hepatic steat...	OMIM:201475
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Short stature, Splenomegaly, ...	OMIM:618641
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Hepatomegaly, Failure to thrive, Lethargy	ORPHA:927
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp...	OMIM:616828
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly	ORPHA:46532
Central Diabetes Insipidus	Lethargy, Failure to thrive, Weight loss, Depression	ORPHA:178029
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Hepatomegaly, Ascites, Weight loss	ORPHA:2198
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Intrahepati...	OMIM:607765
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a...	OMIM:615158
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Gaucher Disease, Type Iii	Hepatomegaly, Short stature, Splenomegaly, Depression, Decreased body weight	OMIM:231000
N-Acetylglutamate Synthase Deficiency	Lethargy, Failure to thrive	OMIM:237310
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Increased sarco...	ORPHA:264580
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Jaundic...	OMIM:235555
Bardet-Biedl Syndrome 19	Hepatic steatosis, Obesity	OMIM:615996
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly	ORPHA:882
Rotor Syndrome	Jaundice, Storage in hepatocytes, Intermittent jaundice	ORPHA:3111
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Short stature, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrh...	OMIM:601847
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Splenomegaly...	OMIM:251880
Citrullinemia Type I	Lethargy, Failure to thrive, Hepatic failure	ORPHA:247525
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis	OMIM:615119
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Stillbirth, Decreased liver function, Neonatal death, Lethargy, Hepatic steatosis	OMIM:614922
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Lethargy, Lower-limb joint contracture	OMIM:613710
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly, Short stature	ORPHA:417
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:2348
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Hypertriglyceridemia, Short stature, Hepatosplenomegaly, Hepatic s...	OMIM:619013
Citrullinemia, Type Ii, Neonatal-Onset	Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration, Microvesicul...	OMIM:605814
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Splenomegaly, Weight loss, A...	ORPHA:465508
Combined Saposin Deficiency	Splenomegaly, Hepatomegaly, Abnormal glycosphingolipid metabolism	OMIM:611721
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Hyperlipidemia, Cirrhosis, N...	OMIM:214900
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hepatomegaly, Failure to thrive, Pancreatitis, Lethargy	OMIM:251000
Classic Galactosemia	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Depression, Ascites, Delayed puberty, Leth...	ORPHA:79239
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Proportionate short stature, Increased circ...	ORPHA:71212
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Short stature, Splenomegaly, Lethargy, Failure to thrive	OMIM:201100
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Reduced subcutane...	OMIM:151660
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa...	ORPHA:75234
Mitochondrial Complex I Deficiency, Nuclear Type 6	Left ventricular hypertrophy, Lethargy, Failure to thrive	OMIM:618228
Congenital Disorder Of Glycosylation, Type Iik	Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Eleva...	OMIM:614727
3-Methylglutaconic Aciduria, Type V	Elevated circulating aspartate aminotransferase concentration, Postnatal growth retardation, Micr...	OMIM:610198
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Jaundice, Elevated circulating aspartate aminotransferase concentration	OMIM:614876
Propionic Acidemia	Hepatomegaly, Short stature, Lethargy, Failure to thrive, Pancreatitis	OMIM:606054
Retinitis Pigmentosa 59	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Intrauterine growth retardation	OMIM:613861
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H...	OMIM:613812
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Failure to thrive, Hepatic steatosis, Decreased liver function	ORPHA:70472
Cog7-Cdg	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Postnatal growth retardat...	ORPHA:79333
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Elevated hepatic transaminase, Failure to thrive, Microvesicular hepatic steatosis, Jaundice, Cho...	OMIM:617156
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Splenomegaly, Hepatomegaly, Failure to thrive, Enlarged kidney	OMIM:615285
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Citrullinemia, Classic	Hepatomegaly, Failure to thrive, Lethargy, Cirrhosis	OMIM:215700
Glut1 Deficiency Syndrome 1	Lethargy, Paroxysmal lethargy	OMIM:606777
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Truncal obesity, Increased hepatic glycogen content, Increased circulating free fatty acid level,...	ORPHA:293964
Cirrhosis, Familial	Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Cirrhosis, Lethargy, As...	OMIM:215600
Mitochondrial Trifunctional Protein Deficiency 1	Elevated hepatic transaminase, Small for gestational age, Elevated circulating aspartate aminotra...	OMIM:609015
Mast Cell Sarcoma	Splenomegaly, Hepatomegaly, Weight loss	ORPHA:66661
Congenital Macroglossia	Abnormal hepatic glycogen storage	ORPHA:2430
Hemoglobin H Disease	Splenomegaly, Hepatomegaly	OMIM:613978
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Hyperlipidemia, Biliary tract abnormal...	ORPHA:1414
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Pancreatitis, Lethargy	ORPHA:27
Pparg-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipoatrophy, Sp...	ORPHA:79083
Mu-Heavy Chain Disease	Splenomegaly, Hepatomegaly, Weight loss	ORPHA:100024
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly	OMIM:606445
Typhoid	Splenomegaly, Hepatomegaly, Lethargy	ORPHA:99745
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Postnat...	OMIM:617093
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating alanine aminotransferase concentration, Cholestasis, Portal fibrosis, Failur...	OMIM:614300
Peroxisome Biogenesis Disorder 6A (Zellweger)	Neonatal death, Hepatomegaly, Decreased liver function	OMIM:614870
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Growth delay, Hy...	OMIM:306000
Methylcobalamin Deficiency Type Cble	Postnatal growth retardation, Abnormality of the liver, Lethargy, Failure to thrive, Intrauterine...	ORPHA:2169
Idiopathic Congenital Hypothyroidism	Lethargy, Umbilical hernia, Prolonged neonatal jaundice	ORPHA:95717
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hypertriglyceridemia	OMIM:615924
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Lethargy	OMIM:212138
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Weight loss	ORPHA:42642
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Splenomegaly, Jaundice, Steatorrhea, Failure to thrive, Exocrine pancreatic insuffi...	OMIM:612714
Coproporphyria, Hereditary	Splenomegaly, Hepatomegaly, Jaundice, Depression	OMIM:121300
Macrocephaly-Intellectual Disability-Autism Syndrome	Multiple lipomas, Hepatic steatosis	ORPHA:210548
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Micronodular ci...	ORPHA:98907
Pontocerebellar Hypoplasia, Type 6	Lethargy, Failure to thrive, Elbow contracture	OMIM:611523
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Jaundice...	ORPHA:858
Infantile Liver Failure Syndrome 2	Elevated hepatic transaminase, Lethargy, Jaundice, Acute hepatic failure	OMIM:616483
Dysbetalipoproteinemia	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Obesity, Xanthelasma, Hypercholesterolemi...	ORPHA:412
Transcobalamin Ii Deficiency	Hepatomegaly, Failure to thrive, Lethargy	OMIM:275350
Developmental And Epileptic Encephalopathy 92	Lethargy	OMIM:617829
Wolman Disease	Hepatomegaly, Cachexia, Splenomegaly, Growth delay, Ascites, Steatorrhea, Hepatic failure	ORPHA:75233
Methylmalonic Aciduria, Cblb Type	Hepatomegaly, Failure to thrive, Lethargy	OMIM:251110
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Hepatomegaly, Short stature, Hyperlipidemia, Hepatic fibrosis	OMIM:232400
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Bradykinesia, Lethargy	OMIM:618683
Idiopathic Intracranial Hypertension	Lethargy, Obesity, Depression	ORPHA:238624
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Short stature, Splenomegaly, Jaund...	OMIM:211600
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatomegaly, Hepatic cysts	OMIM:617004
Mitochondrial Trifunctional Protein Deficiency	Failure to thrive in infancy, Cholestasis, Left ventricular hypertrophy, Diffuse hepatic steatosi...	ORPHA:746
Niemann-Pick Disease, Type B	Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Short stature	OMIM:607616
Immunodeficiency 54	Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Intrauterine growth reta...	OMIM:609981
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Increased circulating fre...	ORPHA:26793
Early Myoclonic Encephalopathy	Lethargy	ORPHA:1935
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Splenomegaly, Flexion contracture, Intrauterine growth retardation, Joint contracture	OMIM:608540
Hypercalcemia, Infantile, 1	Lethargy, Failure to thrive, Weight loss	OMIM:143880
Isolated Atp Synthase Deficiency	Hepatomegaly, Short stature, Lethargy	ORPHA:254913
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614924
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Increased hepatic echo...	OMIM:261680
Glycine Encephalopathy 1	Lethargy	OMIM:605899
Argininosuccinic Aciduria	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic fibrosis, Le...	OMIM:207900
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Hepatomegaly, Failure to thrive	OMIM:615085
Dpm1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Knee flexion contracture, Hepati...	ORPHA:79322
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis	OMIM:275630
Interstitial Lung And Liver Disease	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, E...	OMIM:615486
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Hepatomegaly, Failure to thrive, Short stature, Elevated circulating aspar...	OMIM:256810
Congenital Disorder Of Glycosylation, Type Iij	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Splenomegaly, Cirrhosis, Hepatic ...	OMIM:613489
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Lethargy, Failure to thrive	OMIM:236270
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Pyruvate Dehydrogenase E1-Alpha Deficiency	Lethargy, Small for gestational age	OMIM:312170
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Elevated circul...	OMIM:300972
Resistance To Thyrotropin-Releasing Hormone Syndrome	Overweight, Depression, Growth delay, Prolonged neonatal jaundice, Lethargy	ORPHA:99832
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Lethargy	OMIM:229700
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Inguinal hernia, Depression, Failure to thrive, Hepatic steatosis, Pancreatitis	OMIM:236200
Pleural Mesothelioma	Hepatomegaly, Weight loss	ORPHA:50251
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Dorsocervical fat pad, Paradoxical increased cortisol secretion on dexamethasone suppression test...	ORPHA:189427
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss	ORPHA:99978
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Hepatomegaly, Failure to thrive, Short stature, Intrauterine growth retardation	ORPHA:50812
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ...	OMIM:616278
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Lethargy	OMIM:617900
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Hepatomegaly, Lethargy	OMIM:614299
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Lethargy, Failure to thrive	OMIM:250620
Isolated Polycystic Liver Disease	Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas	ORPHA:2924
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis	OMIM:616719
Dengue Fever	Hepatomegaly, Ascites, Lethargy	ORPHA:99828
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome...	ORPHA:131
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis	OMIM:613313
Methylmalonic Acidemia With Homocystinuria Type Cblf	Growth delay, Reduced number of intrahepatic bile ducts, Lethargy, Failure to thrive, Intrauterin...	ORPHA:79284
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Gaba-Transaminase Deficiency	Lethargy	OMIM:613163
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Microvesicula...	OMIM:619418
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatic failure, Hepatitis	ORPHA:60
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Growth delay, Hepatic steatosis, Hepatic necrosis	OMIM:231530
Severe Canavan Disease	Lethargy	ORPHA:314911
Hyperbilirubinemia, Shunt, Primary	Splenomegaly, Hepatomegaly, Jaundice	OMIM:237800
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Pancreatic fibrosis, Short stature, Postnatal growth retardation, Achilles tendon c...	OMIM:616263
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Hepatomegaly, Short stature, Small for gestational age, Lethargy, Failure to thrive	OMIM:277380
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Hepatomegaly, Short stature	ORPHA:2204
Microcephaly, Amish Type	Hepatomegaly, Failure to thrive, Flexion contracture	OMIM:607196
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:608836
Immunodeficiency 83, Susceptibility To Viral Infections	Lethargy	OMIM:613002
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Generalized lipodystrophy, Panniculitis, ...	ORPHA:79086
Glutaric Acidemia Type 3	Lethargy, Failure to thrive	ORPHA:35706
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, F...	OMIM:613327
Evans Syndrome	Lethargy, Jaundice	ORPHA:1959
Pseudo-Torch Syndrome 2	Elevated hepatic transaminase, Hepatomegaly, Ascites, Lethargy	OMIM:617397
Liver Failure, Infantile, Transient	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato...	OMIM:613070
Peroxisome Biogenesis Disorder 3B	Hepatomegaly, Very long chain fatty acid accumulation, Steatorrhea, Failure to thrive, Hypocholes...	OMIM:266510
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po...	OMIM:602347
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminan...	ORPHA:2137
Hyperlysinuria With Hyperammonemia	Growth delay, Lethargy	OMIM:238750
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Jaundice, Lipid accumulation in ...	ORPHA:20
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Hepatomegaly, Hypocholesterolemia, Splenomegaly	OMIM:610539
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Hepatomegaly	OMIM:607685
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Classic Glucose Transporter Type 1 Deficiency Syndrome	Lethargy	ORPHA:71277
Combined Oxidative Phosphorylation Deficiency 47	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Intrauterine growth retardation	OMIM:618958
Insulinoma	Lethargy, Abnormality of the pancreatic islet cells, Increased body weight	ORPHA:97279
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Cachexia, Weight loss, Macrovesicular hepatic steatosis, Cirrhosis	ORPHA:298
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Reduced subcutaneous adipose tissue, ...	ORPHA:280365
Hepatitis, Fulminant Viral, Susceptibility To	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure	OMIM:618549
Methylmalonic Aciduria, Cbla Type	Hepatomegaly, Failure to thrive, Lethargy	OMIM:251100
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Hepatomegaly, Lethargy	OMIM:604377
Hemophagocytic Lymphohistiocytosis, Familial, 4	Splenomegaly, Hepatomegaly, Jaundice, Hypertriglyceridemia	OMIM:603552
Bile Acid Malabsorption, Primary, 2	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:619481
Fanconi-Bickel Syndrome	Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Elevated circulating aspartate aminotransf...	ORPHA:2088
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Elevated ci...	OMIM:214950
Gaucher Disease Type 2	Splenomegaly, Hepatomegaly, Flexion contracture	ORPHA:77260
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Febrile Infection-Related Epilepsy Syndrome	Lethargy	ORPHA:163703
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis	ORPHA:369840
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Increased muscle glycogen content, Hepatomegaly, Abnormality of the liver, Increased muscle lipid...	ORPHA:254864
Trichohepatoenteric Syndrome 2	Hepatomegaly, Small for gestational age, Chronic hepatitis, Cirrhosis, Intrauterine growth retard...	OMIM:614602
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Failure to thrive, Portal hypert...	OMIM:619487
Cyanosis, Transient Neonatal	Hepatomegaly, Jaundice	OMIM:613977
Bile Acid Conjugation Defect 1	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c...	OMIM:619232
Alpha-Heavy Chain Disease	Splenomegaly, Hepatomegaly, Ascites, Growth delay	ORPHA:100025
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hepatomegaly, Failure to thrive	OMIM:618235
Maternal Uniparental Disomy Of Chromosome 1	Growth delay, Hepatomegaly, Failure to thrive, Short stature	ORPHA:251009
Mpi-Cdg	Hepatomegaly, Portal hypertension, Hepatic fibrosis, Decreased liver function, Failure to thrive	ORPHA:79319
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Short stature, Elevated circulating aspartate aminot...	OMIM:614921
Dihydropyrimidinase Deficiency	Growth delay, Lethargy	OMIM:222748
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Splenomegaly, Hepatomegaly, Failure to thrive	OMIM:618495
Galactokinase Deficiency	Hepatomegaly, Small for gestational age, Hepatosplenomegaly, Hypercholesterolemia, Failure to thrive	ORPHA:79237
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Ascites, Failure to thrive	OMIM:269920
Sialidosis Type 2	Hepatomegaly, Inguinal hernia, Short stature, Splenomegaly, Flexion contracture, Umbilical hernia...	ORPHA:87876
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Pancreatic fibrosis, Small for ge...	OMIM:557000
Galactosemia I	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:230400
Thyroid Dyshormonogenesis 1	Growth delay, Lethargy, Umbilical hernia	OMIM:274400
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hepatitis, Decreased liver functi...	ORPHA:415
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Atretic gallbladder, Sple...	ORPHA:30391
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:616433
Osteootohepatoenteric Syndrome	Microvesicular hepatic steatosis, Cholestasis, Weight loss, Portal fibrosis, Hepatic fibrosis, Pr...	OMIM:619377
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Hepatic steatosis	ORPHA:228305
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Abnormal dental enamel morphology, Portal hypertension, Splenomegaly, Jaundice, Sca...	ORPHA:59303
Isolated Complex I Deficiency	Hepatomegaly, Failure to thrive, Lethargy, Intrauterine growth retardation	ORPHA:2609
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Very long chain fatty acid acc...	ORPHA:98908
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619662
Familial Thyroid Dyshormonogenesis	Lethargy, Umbilical hernia, Prolonged neonatal jaundice	ORPHA:95716
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Failure to thrive, Lethargy, Cholestasis	OMIM:620233
Alstrom Syndrome	Elevated hepatic transaminase, Hepatomegaly, Chronic active hepatitis, Hypertriglyceridemia, Shor...	OMIM:203800
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Cirrhosis, Lethargy, Failure to thrive, He...	OMIM:229600
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Lethargy, Short stature, Ankle flexion contracture	OMIM:618120
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Viral hepatitis, Scarring, Hepatocellular carcinoma, Portal inflam...	ORPHA:101330
Necrotizing Enterocolitis	Lethargy, Peritonitis, Ascites, Small for gestational age	ORPHA:391673
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Growth delay, Lethargy, Inguinal hernia, Failure to thrive	OMIM:614857
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Flexion cont...	ORPHA:367
Erythroleukemia, Familial, Susceptibility To	Splenomegaly, Hepatomegaly	OMIM:133180
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Growth delay, Hepatic fibrosis, I...	ORPHA:541423
Amyloidosis, Familial Visceral	Splenomegaly, Hepatomegaly, Cholestasis	OMIM:105200
Immunodeficiency 42	Splenomegaly, Hepatomegaly	OMIM:616622
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Steatorrhea, Hepatic fibrosis, Cirrhosis, Hepatic failure, Failure to thrive	OMIM:602579
Beta-Thalassemia, Dominant Inclusion Body Type	Splenomegaly, Hepatomegaly	OMIM:603902
Farber Lipogranulomatosis	Splenomegaly, Hepatomegaly, Failure to thrive	OMIM:228000
Hurler-Scheie Syndrome	Splenomegaly, Hepatomegaly, Short stature, Hernia	ORPHA:93476
Isolated Thyroid-Stimulating Hormone Deficiency	Hypercholesterolemia, Depression, Growth delay, Umbilical hernia, Prolonged neonatal jaundice, Le...	ORPHA:90674
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Failure to thrive, Hepatic steatosis, Elevated hepatic transaminase	ORPHA:99901
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Lethargy, Failure to thrive	OMIM:237300
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Nodular Non-Suppurative Panniculitis	Splenomegaly, Hepatomegaly, Panniculitis, Weight loss	ORPHA:33577
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Lethargy	ORPHA:159
Lymphoproliferative Syndrome, X-Linked, 2	Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Hepatitis	OMIM:300635
Mitochondrial Complex I Deficiency, Nuclear Type 4	Lethargy	OMIM:618225
Infantile Refsum Disease	Very long chain fatty acid accumulation, Hepatomegaly, Failure to thrive, Short stature	ORPHA:772
Aredyld Syndrome	Hepatomegaly, Lipoatrophy, Abnormal dental enamel morphology, Cachexia, Short stature, Splenomega...	ORPHA:1133
Holocarboxylase Synthetase Deficiency	Growth delay, Lethargy, Weight loss	ORPHA:79242
Severe Combined Immunodeficiency, X-Linked	Hepatomegaly, Failure to thrive	OMIM:300400
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Intrauterine growt...	OMIM:610333
19P13.12 Microdeletion Syndrome	Hyperlipidemia, Obesity, Arthrogryposis multiplex congenita, Hepatic steatosis, Intrauterine grow...	ORPHA:254346
Autosomal Recessive Dopa-Responsive Dystonia	Bradykinesia, Lethargy	ORPHA:101150
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Reduced subcutaneous adipose tis...	OMIM:608594
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Failure to thrive, Diffuse hepatic steatosis, Decreased liver function	ORPHA:436271
Free Sialic Acid Storage Disease	Splenomegaly, Hepatomegaly, Ascites, Failure to thrive in infancy	ORPHA:834
Pediatric Hepatocellular Carcinoma	Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis	ORPHA:33402
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Hepatosplenomegaly, Cirrhosi...	OMIM:616860
Cardiomyopathy, Familial Restrictive, 6	Hepatomegaly, Ascites, Portal vein hypoplasia	OMIM:619433
Classic Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Weight loss	ORPHA:391
Multiple Mitochondrial Dysfunctions Syndrome 1	Neonatal death, Lethargy, Failure to thrive	OMIM:605711
Anemia, Congenital Dyserythropoietic, Type Ib	Hepatomegaly, Short stature, Splenomegaly, Jaundice, Growth delay	OMIM:615631
Autoinflammation With Episodic Fever And Lymphadenopathy	Splenomegaly, Hepatomegaly	OMIM:618852
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Jaundice, Neonatal death, Hepatic periportal necrosis, Hepatic steatosis	OMIM:231680
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Lethargy, Failure to thrive, Right ventricular hypertrophy	ORPHA:1329
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Hepatic steatosis, Short stature	ORPHA:52430
Thiamine-Responsive Megaloblastic Anemia Syndrome	Lethargy, Short stature	ORPHA:49827
Immunodeficiency 7	Splenomegaly, Hepatomegaly, Failure to thrive	OMIM:615387
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Growth delay, Hepatomegaly, Joint contracture, Delayed puberty	OMIM:615704
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Weight loss, As...	ORPHA:83469
Cimdag Syndrome	Microvesicular hepatic steatosis, Lipodystrophy, Cholelithiasis, Hepatomegaly	OMIM:619273
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Lethargy, Failure to thrive, Elevated circulating alanine aminotransferase concentration, Elevate...	OMIM:311250
Activated Pi3K-Delta Syndrome	Splenomegaly, Hepatomegaly, Failure to thrive	ORPHA:397596
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Short stature, Splenomegaly, Obesity, Cholestasis, Hepatic fibrosis, Hepatic failure	OMIM:615630
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice	OMIM:243300
Pyruvate Dehydrogenase Deficiency	Growth delay, Lethargy, Multiple lipomas, Intrauterine growth retardation	ORPHA:765
Cyclic Vomiting Syndrome	Growth delay, Lethargy	OMIM:500007
Combined Oxidative Phosphorylation Deficiency 27	Microvesicular hepatic steatosis, Failure to thrive	OMIM:616672
Progeria-Short Stature-Pigmented Nevi Syndrome	Elevated hepatic transaminase, Neoplasm of the pancreas, Multiple joint contractures, Small for g...	ORPHA:2959
Transaldolase Deficiency	Hepatomegaly, Small for gestational age, Splenomegaly, Micronodular cirrhosis, Hepatosplenomegaly...	OMIM:606003
Riboflavin Deficiency	Lethargy	OMIM:615026
Peroxisome Biogenesis Disorder 5A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Small for gestational age, Elevated circulating as...	OMIM:614866
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Lethargy, Failure to thrive	OMIM:615838
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatomegaly, Abnormal subcutaneous fat tissue distribution, Flexi...	OMIM:212065
Dubin-Johnson Syndrome	Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality	ORPHA:234
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c...	ORPHA:53035
Hereditary Fructose Intolerance	Hepatomegaly, Jaundice, Growth delay, Lethargy, Chronic hepatic failure	ORPHA:469
Late-Onset Isolated Acth Deficiency	Decreased circulating cortisol level, Hepatitis, Weight loss, Lethargy, Failure to thrive	ORPHA:199299
Aromatase Deficiency	Eunuchoid habitus, Enlarged polycystic ovaries, Hyperlipidemia, Obesity, Growth delay, Hepatic st...	ORPHA:91
Benign Samaritan Congenital Myopathy	Lethargy	ORPHA:324581
Leukoencephalopathy With Vanishing White Matter 1	Lethargy	OMIM:603896
Hyperlipoproteinemia, Type Id	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Recurrent pancreatitis, Failure to thrive, Panc...	OMIM:615947
Niemann-Pick Disease, Type A	Hepatomegaly, Failure to thrive, Short stature, Elevated circulating aspartate aminotransferase c...	OMIM:257200
Glycerol Kinase Deficiency	Hypertriglyceridemia, Small for gestational age, Short stature, Chronic pancreatitis, Growth dela...	OMIM:307030
Biotinidase Deficiency	Splenomegaly, Hepatomegaly, Lethargy	OMIM:253260
Maple Syrup Urine Disease	Lethargy, Pancreatitis	OMIM:248600
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, F...	OMIM:617591
Lysosomal Acid Lipase Deficiency	Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive, Hypertriglyceri...	ORPHA:275761
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Failure to thrive, Cholestasis, Decreased liver function, Camptodactyly, Neonatal d...	OMIM:608104
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Reduced subcutaneous adipose tis...	OMIM:269700
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Failure to thrive, Flexion contracture, Camptodactyly	OMIM:604273
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Jaundice, Cholestatic liver di...	OMIM:613404
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ...	ORPHA:247598
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Fetal ascit...	OMIM:261515
Propionic Acidemia	Hepatomegaly	ORPHA:35
Peroxisomal Acyl-Coa Oxidase Deficiency	Hepatomegaly, Failure to thrive	ORPHA:2971
Fetal Gaucher Disease	Hepatomegaly, Splenomegaly, Abnormality of the spleen, Flexion contracture, Stillbirth, Neonatal ...	ORPHA:85212
Central Neurocytoma	Lethargy, Depression	ORPHA:73256
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Lethargy	OMIM:610006
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis	OMIM:605479
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Short stature, Hyperlipidemia, Delayed pub...	ORPHA:79259
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Bile duct proliferation, Macrovesicular hepatic steatosis, Decreas...	OMIM:618329
Mitochondrial Complex I Deficiency, Nuclear Type 9	Neonatal death, Lethargy	OMIM:618232
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Cholestatic liver disease, Failure to thrive	ORPHA:5
Developmental And Epileptic Encephalopathy 41	Lethargy, Flexion contracture	OMIM:617105
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Decreased liver function, Increased intramyocellular lipid droplets, Increased hepa...	OMIM:220110
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Hepatomegaly	OMIM:613730
Monosomy 13Q34	Growth delay, Hepatic steatosis, Obesity	ORPHA:96168
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Weight loss, Splenomegaly	ORPHA:507
Seckel Syndrome 10	Acute pancreatitis, Hypertriglyceridemia, Severe short stature, Elevated circulating aspartate am...	OMIM:617253
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Postnatal growt...	ORPHA:79240
Scrub Typhus	Splenomegaly, Lethargy	ORPHA:83317
Genetic Transient Congenital Hypothyroidism	Lethargy, Umbilical hernia, Prolonged neonatal jaundice	ORPHA:226316
Autosomal Dominant Progressive External Ophthalmoplegia	Elevated hepatic transaminase, Bipolar affective disorder, Depression, Bradykinesia, Abnormality ...	ORPHA:254892
Anemia, Hypochromic Microcytic, With Iron Overload 2	Splenomegaly, Hepatomegaly, Growth delay, Elevated hepatic iron concentration	OMIM:615234
Immunodeficiency 32B	Splenomegaly, Hepatomegaly, Failure to thrive	OMIM:226990
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated hepatic transaminase, Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Depres...	OMIM:124000
Lysinuric Protein Intolerance	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Hypercholes...	ORPHA:470
Combined Oxidative Phosphorylation Deficiency 53	Hepatomegaly, Failure to thrive, Short stature	OMIM:619423
Hyperphenylalaninemia, Bh4-Deficient, B	Lethargy	OMIM:233910
Hypermanganesemia With Dystonia 1	Elevated hepatic transaminase, Hepatomegaly, Bradykinesia, Decreased liver function, Cirrhosis	OMIM:613280
Fucosidosis	Hepatomegaly, Lipoatrophy, Cardiomegaly, Abnormality of the gallbladder, Failure to thrive	ORPHA:349
Renal Hypoplasia, Bilateral	Small for gestational age, Short stature, Growth delay, Lethargy, Failure to thrive	ORPHA:97362
Ebola Hemorrhagic Fever	Lethargy, Acute pancreatitis, Hepatitis	ORPHA:319218
Susac Syndrome	Lethargy, Apathy	ORPHA:838
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hepatomegaly, Splenomegaly, Growth delay, Increased intramyocellular lipid droplets, Hepatic fail...	OMIM:252010
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure	OMIM:611126
Meckel Syndrome, Type 3	Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate	OMIM:607361
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hypercholesterolemia, Pancreatitis	OMIM:207750
Congenital Disorder Of Glycosylation, Type Ig	Lethargy, Rhizomelia, Failure to thrive, Small for gestational age	OMIM:607143
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Stillbirth, Hepati...	OMIM:615415
Immunodeficiency 87 And Autoimmunity	Hepatomegaly, Hypertriglyceridemia, Small for gestational age, Elevated circulating aspartate ami...	OMIM:619573
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis	ORPHA:348
Congenital Pulmonary Lymphangiectasia	Splenomegaly, Hepatomegaly, Ascites, Growth delay	ORPHA:2414
Abetalipoproteinemia	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Steatorrhea, Hepatic fibrosis, Cirrhos...	ORPHA:14
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Lethargy, Failure to thrive, Flexion contracture	OMIM:201470
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor...	ORPHA:400
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B...	OMIM:607626
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Splenomegaly, Flexion contracture, Generalized lipodystrophy, Panniculitis	OMIM:619183
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Cardiomegaly, Hyperlipidemia, Hepatic calcification, Hepatic failure, Hepatic steat...	ORPHA:228308
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Inguinal hernia, Failure to thrive, Small for gestational age, Sle...	OMIM:613658
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Growth delay, Hepatic steatosis	ORPHA:445038
Joubert Syndrome 8	Hepatomegaly, Obesity, Prolonged neonatal jaundice	OMIM:612291
Griscelli Syndrome Type 2	Splenomegaly, Hepatomegaly, Jaundice, Hyperlipidemia	ORPHA:79477
Ogden Syndrome	Postnatal growth retardation, Lethargy, Inguinal hernia	ORPHA:276432
3-Methylglutaconic Aciduria, Type Viib	Rhizomelia, Flexion contracture, Growth delay, Intrauterine growth retardation, Hepatic steatosis	OMIM:616271
Wolcott-Rallison Syndrome	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Short stature, Jaundice, Grow...	ORPHA:1667
Histiocytoid Cardiomyopathy	Hepatomegaly, Failure to thrive, Lethargy, Cardiomegaly	ORPHA:137675
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Short stature, Splenomegaly, Growth delay, Intrauterine growth retardation	OMIM:618541
Thoraco-Abdominal Enteric Duplication	Hepatomegaly, Camptodactyly of finger	ORPHA:1759
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Microvesic...	OMIM:203700
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Hepatomegaly, Failure to thrive	OMIM:560000
Deafness-Lymphedema-Leukemia Syndrome	Splenomegaly, Hepatomegaly, Weight loss	ORPHA:3226
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Decreased liver function, Um...	OMIM:251290
Idiopathic Pulmonary Hemosiderosis	Hepatosplenomegaly, Hepatomegaly, Failure to thrive, Cardiomegaly	ORPHA:99931
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,...	OMIM:208540
Multifocal Atrial Tachycardia	Lethargy	ORPHA:3282
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Cirrhosis, Hepatocellula...	OMIM:235200
Bloom Syndrome	Small for gestational age, Postnatal growth retardation, Growth delay, Intrauterine growth retard...	OMIM:210900
Hypothyroidism Due To Tsh Receptor Mutations	Lethargy, Umbilical hernia, Prolonged neonatal jaundice	ORPHA:90673
Pearson Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Small for gestational age, Post...	ORPHA:699
Isovaleric Acidemia	Lethargy	OMIM:243500
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio...	OMIM:277900
Prolidase Deficiency	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Prolon...	OMIM:170100
Majeed Syndrome	Hepatomegaly, Cachexia, Splenomegaly, Flexion contracture, Weight loss, Failure to thrive	ORPHA:77297
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hepatomegaly	OMIM:618107
Harderoporphyria	Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice	OMIM:618892
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated hepatic transaminase, Hepatomegaly, Short stature, Intrauterine growth retardation, Hepa...	OMIM:615356
Familial Hypoaldosteronism	Growth delay, Lethargy, Failure to thrive	ORPHA:427
Tangier Disease	Left ventricular hypertrophy, Hepatomegaly, Hypertriglyceridemia, Splenomegaly	OMIM:205400
Autoinflammation With Arthritis And Dyskeratosis	Splenomegaly, Hepatomegaly, Failure to thrive, Growth delay	OMIM:617388
Primary Myelofibrosis	Hepatomegaly, Cachexia, Portal hypertension, Splenomegaly, Hepatosplenomegaly	ORPHA:824
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis, Intrauterine growth retardation	OMIM:266200
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Elevated hepatic transaminase, Hepatomegaly, Flexion contracture, Growth delay, Increased intramy...	ORPHA:17
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Small for gestational age, Mild postnatal growth retardation, Splenomegaly, Prolong...	OMIM:224120
Fish-Eye Disease	Splenomegaly, Hepatomegaly	ORPHA:79292
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Failure to thrive, Foot joint contracture, Mild postnatal growth retardation, Achil...	ORPHA:456312
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Decreased body weight, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Apathy, Hepa...	OMIM:608013
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Hepatocellular necrosis, Hepatosple...	OMIM:618278
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Hepatomegaly, Growth delay	OMIM:611490
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Lethargy, Failure to thrive	OMIM:210210
Peroxisome Biogenesis Disorder 13A (Zellweger)	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest...	OMIM:614887
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Short stature, Large for gestational age	OMIM:616026
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Splenomegaly, Flexion contracture, Macrovesicular hepatic steatosis, Enlarged kidney	OMIM:617303
Beta-Thalassemia	Splenomegaly, Hepatomegaly, Cholelithiasis, Hepatitis	ORPHA:848
Sim1-Related Prader-Willi-Like Syndrome	Lethargy, Abdominal obesity, Failure to thrive, Obesity	ORPHA:398079
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Int...	ORPHA:100085
Hurler-Scheie Syndrome	Hepatomegaly, Inguinal hernia, Short stature, Camptodactyly of finger, Splenomegaly, Contracture ...	OMIM:607015
Dilated Cardiomyopathy With Ataxia	Elevated hepatic transaminase, Microvesicular hepatic steatosis, Growth delay, Intrauterine growt...	ORPHA:66634
Neuroendocrine Tumor Of The Colon	Elevated hepatic transaminase, Hepatomegaly, Weight loss	ORPHA:100080
Omenn Syndrome	Splenomegaly, Hepatomegaly, Failure to thrive	ORPHA:39041
Shwachman-Diamond Syndrome 2	Hepatomegaly, Short stature, Steatorrhea, Hyperechogenic pancreas, Failure to thrive, Exocrine pa...	OMIM:617941
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Elevated circulating aspartate amin...	OMIM:619525
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Jaundice, Growth delay, Lethargy, Failure to thrive, Intrauterine growth retardation	ORPHA:79282
Mandibuloacral Dysplasia With Type A Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Reduced subcutaneous adipose tissue, ...	OMIM:248370
Macrocephaly/Autism Syndrome	Splenomegaly, Hepatomegaly, Obesity, Large for gestational age	OMIM:605309
Magel2-Related Prader-Willi-Like Syndrome	Short stature, Flexion contracture, Increased body weight, Abdominal obesity, Lethargy, Failure t...	ORPHA:398069
Primary Sclerosing Cholangitis	Acute hepatic failure, Hepatic fibrosis, Neoplasm of the gallbladder, Hepatomegaly, Portal hypert...	ORPHA:171
Hb Bart'S Hydrops Fetalis	Splenomegaly, Hepatomegaly	ORPHA:163596
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Lethargy, Jaundice	OMIM:615751
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Splenomegaly, Hepatitis, Chronic hepatitis, Sclerosing cholangitis, Cirrhosis, Fail...	OMIM:308230
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Hepatomegaly	OMIM:620296
Shwachman-Diamond Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Short stature, Steatorrhe...	OMIM:260400
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration...	ORPHA:158061
Leukocyte Adhesion Deficiency, Type Iii	Splenomegaly, Hepatomegaly, Hepatosplenomegaly	OMIM:612840
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Abnormal abdomen morphology, Ex...	ORPHA:97278
Beta-Thalassemia Intermedia	Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Hepatosplenomegaly, Abnormality o...	ORPHA:231222
Oculoskeletodental Syndrome	Hepatomegaly, Small for gestational age, Short stature, Splenomegaly, Elbow flexion contracture	OMIM:618440
Wild Type Attr Amyloidosis	Hepatomegaly, Weight loss	ORPHA:330001
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly	OMIM:601979
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Failure to thrive	OMIM:267700
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Elevated hepatic transaminase, Hepatomegaly, Limb joint contracture, Small for gestational age, N...	ORPHA:404454
Mcleod Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevat...	OMIM:300842
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Splenomegaly, Hepatitis, Weight loss, Intrauterine growth retardation, Hepatic stea...	OMIM:615846
Cold Agglutinin Disease	Splenomegaly, Hepatomegaly	ORPHA:56425
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Lethargy, Failure to thrive	ORPHA:395
Bronchial Neuroendocrine Tumor	Hepatomegaly, Increased circulating cortisol level, Hepatic failure, Weight loss	ORPHA:97287
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f...	OMIM:263200
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Hepato...	OMIM:603553
Medulloblastoma	Elevated hepatic transaminase, Lethargy	ORPHA:616
Glutaric Acidemia I	Hepatomegaly, Failure to thrive	OMIM:231670
Argininemia	Hepatomegaly, Postnatal growth retardation, Micronodular cirrhosis, Cholestasis, Portal fibrosis	OMIM:207800
Polycythemia Vera	Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Weight loss	ORPHA:729
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Short stature, Hyperlipidemia, Delayed puberty, Grow...	OMIM:232200
Somatostatinoma	Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Abnormal abdomen morphology, Ex...	ORPHA:97283
Congenitally Uncorrected Transposition Of The Great Arteries	Hepatomegaly, Small for gestational age, Cardiomegaly, Failure to thrive, Right ventricular hyper...	ORPHA:860
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Pituitary dwarfism, Overweight, Growth delay, Umbilical hernia, Prolonged neonatal jaundice, Leth...	ORPHA:226307
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Postnatal growt...	OMIM:619127
Omenn Syndrome	Splenomegaly, Hepatomegaly, Failure to thrive	OMIM:603554
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Splenomegaly, Hepatomegaly, Failure to thrive in infancy	OMIM:612852
Meningococcal Meningitis	Lethargy	ORPHA:33475
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cholestasis, Growth delay, Hepatic fib...	OMIM:615895
Arima Syndrome	Hepatomegaly, Growth delay, Hepatic fibrosis, Cirrhosis, Hepatic steatosis	OMIM:243910
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Short stature, Splenomegaly, Hy...	OMIM:232220
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Elevated hepatic iron concentration, Pancreatic hypoplasia, He...	OMIM:619991
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Portal hypertension, J...	ORPHA:79124
Neuroendocrine Tumor Of The Rectum	Elevated hepatic transaminase, Hepatomegaly, Weight loss	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Elevated hepatic transaminase, Hepatomegaly, Weight loss	ORPHA:100082
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Cholelithiasis	OMIM:194380
Glucagonoma	Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Abnormal abdomen morphology, Ex...	ORPHA:97280
Caroli Syndrome	Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port...	ORPHA:480520
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Splenomegaly, Hepatomegaly, Failure to thrive	OMIM:602450
Tyrosinemia, Type I	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Splenomega...	OMIM:276700
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hepatomegaly, Hip contracture, Large for gestational age, Microvesicular hepatic steatosis, Flexi...	OMIM:300868
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hepatosplenomegaly	ORPHA:331206
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Short stature, Flexion contracture, Abdominal obesity, Intrauterine growth retardation, Hepatic s...	OMIM:619321
Lymphoid Interstitial Pneumonia	Hepatomegaly, Weight loss, Abnormality of connective tissue, Failure to thrive, Enlarged kidney	ORPHA:79128
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocr...	ORPHA:93111
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Lethargy, Failure to thrive	OMIM:277400
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	ORPHA:309854
Neurodegeneration And Seizures Due To Copper Transport Defect	Lethargy, Cardiomegaly	OMIM:620306
Fanconi-Bickel Syndrome	Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated circulating aspartate aminotransferas...	OMIM:227810
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Portal hypertension, Hiatus hernia, Pancreatic cysts, Splenomegaly, Hepatitis, Chol...	OMIM:610199
Beta-Thalassemia Major	Hepatomegaly, Failure to thrive in infancy, Hypersplenism, Splenomegaly, Jaundice, Hepatosplenome...	ORPHA:231214
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Left ventricular hypertrophy, Lethargy	OMIM:618321
Staphylococcal Necrotizing Pneumonia	Lethargy	ORPHA:36238
Hyperparathyroidism, Neonatal Severe	Splenomegaly, Hepatomegaly, Failure to thrive	OMIM:239200
Intellectual Developmental Disorder, Autosomal Dominant 68	Intrauterine growth retardation, Hepatic steatosis, Joint contracture of the 5th finger	OMIM:619934
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Small for gestational age, Cardiomegaly, Intrauterine growth retardation, Right ven...	ORPHA:555874
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Lethargy	OMIM:607483
Grfoma	Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Abnormal abdomen morphology, Ex...	ORPHA:97261
Cystic Fibrosis	Hepatomegaly, Biliary cirrhosis, Hepatosplenomegaly, Cirrhosis, Steatorrhea, Failure to thrive, P...	OMIM:219700
Vipoma	Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Abnormal abdomen morphology, Ex...	ORPHA:97282
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Bipolar affective disorder, Hypertriglyceridemia, Short stature, Hypersplenism, Spl...	ORPHA:77293
Dehydrated Hereditary Stomatocytosis 2	Splenomegaly, Hepatomegaly, Jaundice	OMIM:616689
Overhydrated Hereditary Stomatocytosis	Splenomegaly, Hepatomegaly, Jaundice, Prolonged neonatal jaundice	OMIM:185000
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Cardiomegaly, Elevated circulating alanine aminotransferase concentration, Left ven...	ORPHA:308552
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Short stature, Splenomegaly, Weight loss, Hepatosplenomegaly	OMIM:613673
Multiple Endocrine Neoplasia Type 1	Neoplasm of the pancreas, Insulinoma, Depression, Weight loss, Multiple lipomas, Increased circul...	ORPHA:652
Glycogen Storage Disease Xii	Hepatomegaly, Short stature, Splenomegaly, Jaundice, Elevated circulating alanine aminotransferas...	OMIM:611881
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H...	OMIM:301068
Turner Syndrome Due To Structural X Chromosome Anomalies	Elevated hepatic transaminase, Failure to thrive in infancy, Short stature, Postnatal growth reta...	ORPHA:99413
Turner Syndrome	Elevated hepatic transaminase, Failure to thrive in infancy, Short stature, Postnatal growth reta...	ORPHA:881
Mosaic Monosomy X	Elevated hepatic transaminase, Failure to thrive in infancy, Short stature, Postnatal growth reta...	ORPHA:99228
Monosomy X	Elevated hepatic transaminase, Failure to thrive in infancy, Short stature, Postnatal growth reta...	ORPHA:99226
Smith-Lemli-Opitz Syndrome	Hepatomegaly, Short stature, Splenomegaly, Growth delay, Cholestatic liver disease, Cirrhosis, Hy...	OMIM:270400
Acrocephalopolydactylous Dysplasia	Omphalocele, Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Enlarged ...	OMIM:200995
Gaucher Disease, Type Ii	Splenomegaly, Hepatomegaly, Failure to thrive	OMIM:230900
Posterior Urethral Valve	Postnatal growth retardation, Lethargy	ORPHA:93110
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Lethargy	OMIM:277410
Atypical Werner Syndrome	Hypertriglyceridemia, Lipoatrophy, Short stature, Generalized lipodystrophy, Decreased body weigh...	ORPHA:79474
Aromatic L-Amino Acid Decarboxylase Deficiency	Lethargy	OMIM:608643
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Elevated hepatic transaminase, Overweight, Abnormal abdomen morphology, Jaundice, Obesity, Depres...	OMIM:619475
Peroxisome Biogenesis Disorder 1B	Hepatomegaly, Hepatic fibrosis, Cirrhosis	OMIM:601539
Holocarboxylase Synthetase Deficiency	Lethargy	OMIM:253270
Syndromic Diarrhea	Hepatomegaly, Inguinal hernia, Small for gestational age, Short stature, Splenomegaly, Abnormalit...	ORPHA:84064
Ectodermal Dysplasia And Immunodeficiency 2	Splenomegaly, Hepatomegaly, Failure to thrive	OMIM:612132
Semilobar Holoprosencephaly	Short stature, Flexion contracture, Depression, Growth delay, Apathy, Lethargy, Failure to thrive	ORPHA:220386
Alobar Holoprosencephaly	Short stature, Flexion contracture, Depression, Growth delay, Apathy, Lethargy, Failure to thrive	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Short stature, Flexion contracture, Depression, Growth delay, Apathy, Lethargy, Failure to thrive	ORPHA:93926
Lobar Holoprosencephaly	Short stature, Flexion contracture, Depression, Growth delay, Apathy, Lethargy, Failure to thrive	ORPHA:93924
Sickle Cell Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Cholelithiasis	OMIM:603903
Encephalitis Lethargica	Lethargy	ORPHA:83600
1P36 Deletion Syndrome	Short stature, Camptodactyly of finger, Abnormality of the spleen, Obesity, Abnormality of the li...	ORPHA:1606
Cholera	Lethargy	ORPHA:173
Digeorge Syndrome	Inguinal hernia, Bipolar affective disorder, Femoral hernia, Short stature, Splenomegaly, Obesity...	OMIM:188400
Trichinellosis	Lethargy, Apathy	ORPHA:863
Diamond-Blackfan Anemia	Growth delay, Lethargy, Small for gestational age, Short stature	ORPHA:124
Hydranencephaly	Postnatal growth retardation, Lethargy, Intrauterine growth retardation	ORPHA:2177
Porphyria, Congenital Erythropoietic	Hepatomegaly, Short stature, Splenomegaly, Jaundice, Corneal scarring, Atypical scarring of skin,...	OMIM:263700
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Failure to thrive, Hypertriglyceridemia, Lipoatrophy, Campto...	ORPHA:3455
Ogden Syndrome	Inguinal hernia, Short stature, Cardiomegaly, Postnatal growth retardation, Microvesicular hepati...	OMIM:300855
Eisenmenger Syndrome	Hepatomegaly, Abnormality of the liver, Ascites, Lethargy	ORPHA:97214
Glycogen Storage Disease Ic	Hepatomegaly, Chronic pancreatitis, Hyperlipidemia, Xanthelasma, Hepatocellular carcinoma, Hepato...	OMIM:232240
Reynolds Syndrome	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestas...	OMIM:613471
Biotinidase Deficiency	Lethargy	ORPHA:79241
Exercise-Induced Malignant Hyperthermia	Lethargy, Hepatic failure, Decreased liver function	ORPHA:466650
Leprechaunism	Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Postnatal growth retardation...	ORPHA:508
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Inguinal hernia, Small for gestational age, Microvesicular hepatic steatosis, Left ventricular hy...	OMIM:220111
Marburg Hemorrhagic Fever	Elevated hepatic transaminase, Lethargy, Jaundice, Pancreatitis	ORPHA:99826
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Reduced subcutaneous adipose tissue, Hip contracture, Inguinal hernia, Fetal ascites, Portal hype...	OMIM:619503
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Splenomegaly, Hepatomegaly, Liver abscess, Cellulitis	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Splenomegaly, Hepatomegaly, Liver abscess, Cellulitis	OMIM:233710
Hypothyroidism, Congenital, Nongoitrous, 2	Growth delay, Lethargy, Umbilical hernia	OMIM:218700
Amoebiasis Due To Free-Living Amoebae	Lethargy	ORPHA:68
Kufor-Rakeb Syndrome	Bradykinesia, Lethargy, Apathy	ORPHA:306674
Paroxysmal Nocturnal Hemoglobinuria	Lethargy, Jaundice	ORPHA:447
Glycine Encephalopathy	Lethargy	ORPHA:407
Alström Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Dorsocervical fat pad, Short s...	ORPHA:64
Homozygous Familial Hypercholesterolemia	Hypercholesterolemia, Hyperlipidemia, Hepatic steatosis	ORPHA:391665
Pineoblastoma	Lethargy	ORPHA:251909
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency		ORPHA:35701

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 Hmgcs2

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 Hmgcs2.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Hmgcs2-mediated ketogenesis modulates high-fat diet-induced hepatosteatosis.	Molecular metabolism (April 2022)	Hmgcs2^em1(IMPC)Tcp	PMC9039870

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Hmgcs2^{tm44791(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Hmgcs2^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Hmgcs2^{tm44791(L1L2_gt2)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Hmgcs2^{tm2e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Hmgcs2^em1(IMPC)Tcp	Exon Deletion	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us