Gene: Nr1h4 MGI:1352464

Gene Summary

Name:

nuclear receptor subfamily 1, group H, member 4

Synonyms:

Fxr, RIP14, HRR1, FXR, Rxrip14

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased circulating alkaline phosphatase level	Nr1h4^Nr1h4	HOM	Early adult	3.95×10^-26
increased circulating HDL cholesterol level	Nr1h4^Nr1h4	HOM	Early adult	5.25×10^-12
decreased prepulse inhibition	Nr1h4^Nr1h4	HOM	Early adult	4.30×10^-05
increased circulating triglyceride level	Nr1h4^Nr1h4	HOM	Early adult	3.07×10^-13
increased circulating cholesterol level	Nr1h4^Nr1h4	HOM	Early adult	1.87×10^-22
decreased circulating serum albumin level	Nr1h4^Nr1h4	HOM	Early adult	8.14×10^-10
increased lactate dehydrogenase level	Nr1h4^Nr1h4	HOM	Early adult	2.12×10^-06
increased circulating alanine transaminase level	Nr1h4^Nr1h4	HOM	Early adult	1.15×10^-22
decreased mean corpuscular volume	Nr1h4^Nr1h4	HOM	Early adult	6.76×10^-07
abnormal tail movements	Nr1h4^Nr1h4	HOM	Early adult	1.70×10^-05
decreased locomotor activity	Nr1h4^Nr1h4	HOM	Early adult	2.02×10^-05
increased circulating aspartate transaminase level	Nr1h4^Nr1h4	HOM	Early adult	6.53×10^-22
increased startle reflex	Nr1h4^Nr1h4	HOM	Early adult	9.30×10^-06

Download data as: TSV XLS

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 Nr1h4 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 Nr1h4 (2 diseases)
Human diseases predicted to be associated with Nr1h4 (1555 diseases)

The table below shows human diseases associated to Nr1h4 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Cholestasis, Progressive Familial Intrahepatic, 5		Hepatic failure, Failure to thrive, Hypoglycemia, Ascites, Elevated circulating aspartate aminotr...	OMIM:617049
Intrahepatic Cholestasis Of Pregnancy		Elevated circulating hepatic transaminase concentration, Abnormal pineal melatonin secretion, Asc...	ORPHA:69665

The table below shows human diseases predicted to be associated to Nr1h4 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hypertriglyceridemia 2	Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:619324
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi...	ORPHA:79506
Atherosclerosis Susceptibility	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:108725
Glycogen Storage Disease Vi	Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Hyperlipid...	OMIM:232700
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Proteasome-Associated Autoinflammatory Syndrome 5	Fever, Failure to thrive in infancy, Splenomegaly, Hypertriglyceridemia, Hepatomegaly	OMIM:619175
Muscle Cramps, Familial	Elevated circulating creatine kinase concentration	OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Elevated circulating creatine kinase concentration	ORPHA:206599
Cramps, Familial Adolescent	Elevated circulating creatine kinase concentration	OMIM:218050
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami...	OMIM:614480
Glycine N-Methyltransferase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypermethioninemia	OMIM:606664
Hypoalphalipoproteinemia, Primary, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:604091
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Sitosterolemia 2	Hypercholesterolemia, Elevated circulating sitosterol concentration	OMIM:618666
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Portal fibrosis, Failure to thrive, In...	OMIM:619868
Hypercholesterolemia, Familial, 4	Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:603813
Fish-Eye Disease	Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ...	OMIM:136120
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration	ORPHA:2843
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Cholestasis, Progressive Familial Intrahepatic, 11	Abnormal circulating bilirubin concentration, Elevated circulating aspartate aminotransferase con...	OMIM:619874
Hepatocellular Carcinoma	Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma	OMIM:114550
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Congenital Disorder Of Glycosylation, Type Iip	Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ...	OMIM:616829
Congenital Disorder Of Glycosylation, Type Icc	Hepatomegaly	OMIM:301031
Lipodystrophy, Congenital Generalized, Type 3	Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Reduced subcutaneous adipose t...	OMIM:612526
Morbid Obesity And Spermatogenic Failure	Obesity, Increased LDL cholesterol concentration, Hepatic steatosis, Hypertriglyceridemia, Hyperc...	OMIM:615703
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia	ORPHA:366
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S...	OMIM:620010
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
Hemochromatosis, Neonatal	Hepatic fibrosis, Hepatic failure, Increased circulating iron concentration, Hepatocellular necro...	OMIM:231100
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia	ORPHA:94124
Hyperinsulinism Due To Hnf1A Deficiency	Hypoglycemic seizures, Small for gestational age, Maturity-onset diabetes of the young, Hyperinsu...	ORPHA:324575
Citrullinemia, Type Ii, Neonatal-Onset	Elevated gamma-glutamyltransferase level, Hyperbilirubinemia, Hyperthreoninemia, Elevated circula...	OMIM:605814
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia	OMIM:615863
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Neonatal cholestatic liver diseas...	ORPHA:1414
Obesity Due To Prohormone Convertase I Deficiency	Failure to thrive, Cholestasis, Decreased response to growth hormone stimulation test, Hyperinsul...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Failure to thrive, Cholestasis, Decreased response to growth hormone stimulation test, Hyperinsul...	ORPHA:71526
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia	OMIM:607250
Plin1-Related Familial Partial Lipodystrophy	Hepatic fibrosis, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Hepatic steatosis, Polyc...	ORPHA:280356
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Loss...	OMIM:616516
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I...	ORPHA:79303
Hepatitis Delta	Hepatic failure, Hepatitis, Elevated circulating aspartate aminotransferase concentration, Cirrho...	ORPHA:402823
Pediatric Hepatocellular Carcinoma	Hepatic fibrosis, Hepatic necrosis, Portal vein thrombosis, Hepatomegaly, Elevated circulating al...	ORPHA:33402
Galactosemia Iv	Hepatomegaly, Prolonged neonatal jaundice, Hypergalactosemia	OMIM:618881
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:607765
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Folliculitis, Hepatitis, Increased circulating ferritin conc...	OMIM:300635
Cholesteryl Ester Storage Disease	Hepatic failure, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegal...	ORPHA:75234
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Acute hepatic failure, Hepat...	OMIM:278000
Glycogen Storage Disease Ixa1	Elevated circulating hepatic transaminase concentration, Splenomegaly, Hyperuricemia, Hypercholes...	OMIM:306000
Lipase Deficiency, Combined	Pancreatitis, Hypertriglyceridemia	OMIM:246650
Cholestasis-Lymphedema Syndrome	Elevated circulating hepatic transaminase concentration, Erysipelas, Neonatal cholestatic liver d...	OMIM:214900
Hemophagocytic Lymphohistiocytosis, Familial, 4	Fever, Recurrent fever, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyce...	OMIM:603552
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia	OMIM:608320
Hepatic Lipase Deficiency	Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	OMIM:614025
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per...	ORPHA:139507
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Hyperlipidemia	OMIM:600995
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Failure to ...	ORPHA:79301
Wolman Disease	Hepatic failure, Fever, Ascites, Splenomegaly, Hepatomegaly, Cachexia, Steatorrhea	ORPHA:75233
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Colon cancer, Hepatosplenomegaly, Hyperbilirubinemia, Hodgkin lymphoma, Hematological neoplasm, A...	ORPHA:158057
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Limb ataxia, Gait ataxia, Tremor, Elevated circulating creatine kinase concentra...	OMIM:208920
Congenital Generalized Lipodystrophy	Insulin resistance, Precocious puberty in females, Failure to thrive, Hyperinsulinemia, Hepatic s...	ORPHA:528
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hepatosplenomegaly, Fever, Hypertriglyceridemia	OMIM:608898
Progressive Familial Intrahepatic Cholestasis	Failure to thrive, Cholestasis, Splenomegaly, Hypocalcemia, Hepatomegaly, Jaundice, Reduced bone ...	ORPHA:172
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypoalbuminemia, Head tremor, Gait imbalance, Postural tremor, Elevated circulating creatine kina...	ORPHA:64753
Hypertriglyceridemia 1	Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Mulibrey Nanism	Hepatomegaly, Cachexia	ORPHA:2576
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul...	ORPHA:276580
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hepatic steatosis, Hypertriglyceridemia	ORPHA:436182
Lipodystrophy, Familial Partial, Type 3	Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,...	OMIM:604367
Obesity Due To Melanocortin 4 Receptor Deficiency	Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity...	ORPHA:71529
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula...	OMIM:613812
Niemann-Pick Disease, Type B	Increased LDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Decreased acid sphin...	OMIM:607616
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hypertriglyceridemia	OMIM:615924
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul...	ORPHA:276575
Crigler-Najjar Syndrome Type 1	Neonatal hyperbilirubinemia, Abnormality of the liver, Biliary tract abnormality, Prolonged neona...	ORPHA:79234
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Insulin resistance, Male hypogonadism, Elevated circulating hepatic transaminase concentration, H...	OMIM:615381
Peroxisome Biogenesis Disorder 8A (Zellweger)	Elevated circulating aspartate aminotransferase concentration, Epiphyseal stippling, Hepatomegaly...	OMIM:614876
Hypercholanemia, Familial, 2	Prolonged neonatal jaundice, Unconjugated hyperbilirubinemia, Osteopenia, Increased serum bile ac...	OMIM:619256
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Portal inflammation, Ballooning hepat...	OMIM:603471
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly	ORPHA:79281
Edinburgh Malformation Syndrome	Jaundice, Neonatal hyperbilirubinemia, Failure to thrive	OMIM:129850
Lipodystrophy, Partial, Acquired, Susceptibility To	Loss of subcutaneous adipose tissue from upper limbs, Abnormal circulating lipid concentration, L...	OMIM:608709
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Large for gestational age, ...	ORPHA:293964
Crigler-Najjar Syndrome, Type Ii	Reduced tissue UDP-glucuronyl-transferase activity, Jaundice, Elevated circulating hepatic transa...	OMIM:606785
Hyperinsulinism Due To Ucp2 Deficiency	Diffuse pancreatic islet hyperplasia, Hypoglycemic seizures, Recurrent hypoglycemia, Hypoketotic ...	ORPHA:276556
Isolated Growth Hormone Deficiency, Type Ia	Prolonged neonatal jaundice, Decreased serum insulin-like growth factor 1, Hypoglycemia, Reduced ...	OMIM:262400
Galactosemia Iii	Failure to thrive, Splenomegaly, Decreased beta-galactosidase activity, Hepatomegaly, Jaundice, H...	OMIM:230350
Neonatal Hemochromatosis	Increased circulating iron concentration, Hypoglycemia, Increased circulating ferritin concentrat...	ORPHA:446
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:616278
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:235555
Analbuminemia	Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat...	OMIM:616000
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,...	OMIM:620058
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia	OMIM:613752
Porphyria Cutanea Tarda	Portal inflammation, Poor wound healing, Hepatic steatosis, Decreased circulating hepcidin concen...	ORPHA:101330
Apolipoprotein C-Ii Deficiency	Increased circulating chylomicron concentration, Splenomegaly, Hypercholesterolemia, Decreased ci...	OMIM:207750
Diarrhea 13	Hypoalbuminemia, Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Fail...	OMIM:620357
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Mildly elevated creatine kinase, Elevated circulating hepatic transaminase concentration, Hepatic...	OMIM:618400
Combined Oxidative Phosphorylation Deficiency 16	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:615395
Hepatic Veno-Occlusive Disease	Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Ascites, Incr...	ORPHA:890
Cholangiocarcinoma	Anorexia, Biliary tract neoplasm, Jaundice, Acholic stools	ORPHA:70567
Focal Segmental Glomerulosclerosis 1	Hypoalbuminemia, Anemia, Hyperlipidemia	OMIM:603278
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Anemia of inadequate pr...	OMIM:237800
Lipodystrophy, Familial Partial, Type 6	Insulin resistance, Abnormal circulating lipid concentration, Hyperlipidemia, Hepatic steatosis, ...	OMIM:615980
Rotor Syndrome	Hyperbilirubinemia, Abnormal circulating enzyme concentration or activity, Intermittent jaundice,...	ORPHA:3111
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent...	OMIM:619658
Lipodystrophy, Familial Partial, Type 4	Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Lipodystrophy, Hypert...	OMIM:613877
Alpha-1-Antitrypsin Deficiency	Hepatic failure, Reduced circulating alpha-1-antitrypsin concentration, Hepatitis, Cholestasis, C...	ORPHA:60
Lipe-Related Familial Partial Lipodystrophy	Insulin resistance, Decreased adiponectin level, Increased adipose tissue around the neck, Insuli...	ORPHA:435660
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra...	OMIM:616860
Familial Partial Lipodystrophy, Köbberling Type	Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hepato...	ORPHA:79084
Severe Neurodegenerative Syndrome With Lipodystrophy	Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Hepatic steatosis, Reduced subcu...	ORPHA:363400
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Cholelithiasis, Rickets, Failure to thrive, Splenomegaly, Cirrhosis, Intrahepatic cho...	OMIM:211600
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic bridging fibrosis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Cholestasi...	OMIM:619662
Combined Oxidative Phosphorylation Deficiency 34	Hepatic failure, Failure to thrive, Fever, Elevated circulating creatinine concentration, Hepatic...	OMIM:617872
Dubin-Johnson Syndrome	Jaundice, Conjugated hyperbilirubinemia, Biliary tract abnormality	OMIM:237500
Wilson Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Failure to thrive, Bruising s...	ORPHA:905
Biliary Atresia, Extrahepatic	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilir...	OMIM:210500
Immunodeficiency 115 With Autoinflammation	Hypoalbuminemia, Elevated haptoglobin level, Abnormal circulating creatine kinase concentration, ...	OMIM:620632
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration...	ORPHA:209902
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hepatic failure, Hypertriglyceridemia	OMIM:177000
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, D...	OMIM:619048
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Hypercholesterolemia, Ataxia, Dystonia, Elevated circulating alpha-fetoprotein c...	OMIM:616267
Lipodystrophy, Familial Partial, Type 5	Decreased adiponectin level, Hepatic steatosis, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly...	OMIM:615238
Nephrotic Syndrome, Type 7	Hypoalbuminemia, Hemolytic anemia, Thrombocytopenia	OMIM:615008
Galactokinase Deficiency	Small for gestational age, Failure to thrive, Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia,...	ORPHA:79237
Akt2-Related Familial Partial Lipodystrophy	Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased i...	ORPHA:79085
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Osteopenia, Portal fibrosis, Elevated circulating hepatic transaminase concentr...	ORPHA:369
Distal Myopathy, Tateyama Type	Abnormal circulating creatine kinase concentration, Hypercholesterolemia	ORPHA:488650
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E...	OMIM:251880
Chylomicron Retention Disease	Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Decreased LDL cholesterol concentratio...	OMIM:246700
Glycogen Storage Disease Ixc	Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen...	OMIM:613027
Lipodystrophy, Familial Partial, Type 2	Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyp...	OMIM:151660
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Cholestasis, Hepatic steatosis, Polycystic ovaries, Increased body weight, Cirrhosis, Hepatomegal...	ORPHA:264580
Complement Component 4B Deficiency	Recurrent otitis media, Recurrent pneumonia, Recurrent sinusitis, Chronic active hepatitis	OMIM:614379
Combined Oxidative Phosphorylation Deficiency 52	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Adrenal insufficienc...	OMIM:619386
Hepatoportal Sclerosis	Hypersplenism, Hyperbilirubinemia, Jaundice, Esophageal varix, Gastrointestinal hemorrhage, Ascit...	ORPHA:64743
Crigler-Najjar Syndrome, Type I	Jaundice, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilirubinemia	OMIM:218800
Cog7-Cdg	Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatosplenomegaly, E...	ORPHA:79333
Coronary Artery Disease, Autosomal Dominant 2	Increased LDL cholesterol concentration, Hypertriglyceridemia	OMIM:610947
Bile Acid Conjugation Defect 1	Hepatic failure, Rickets, Elevated circulating aspartate aminotransferase concentration, Elevated...	OMIM:619232
Graft Versus Host Disease	Inflammatory abnormality of the skin, Hemophagocytosis, Hepatosplenomegaly, Hyperbilirubinemia, E...	ORPHA:39812
Multiple Symmetric Lipomatosis	Insulin resistance, Joint stiffness, Multiple lipomas, Hepatomegaly, Abnormal adipose tissue morp...	ORPHA:2398
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam...	ORPHA:69663
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, In...	ORPHA:247598
Bile Acid Synthesis Defect, Congenital, 4	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:214950
Cog4-Cdg	Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Hepatosple...	ORPHA:263501
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Lipodystrophy, Congenital Generalized, Type 4	Insulin resistance, Osteopenia, Recurrent pneumonia, Elevated circulating hepatic transaminase co...	OMIM:613327
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Fanconi-Bickel Syndrome	Postprandial hyperglycemia, Intrahepatic cholestasis, Hypouricemia, Elevated gamma-glutamyltransf...	OMIM:227810
Crigler-Najjar Syndrome Type 2	Prolonged neonatal jaundice, Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia	ORPHA:79235
Cidec-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Polycystic o...	ORPHA:435651
Hepatitis, Fulminant Viral, Susceptibility To	Hepatic failure, Elevated circulating hepatic transaminase concentration, Type I diabetes mellitu...	OMIM:618549
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Increased HDL cholesterol concentration, Hypertriglyceridemia	ORPHA:140905
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Decreased liver function, Abnormal circu...	ORPHA:42
Erythroderma, Lethal Congenital	Hypoalbuminemia	OMIM:227090
Lecithin:Cholesterol Acyltransferase Deficiency	Hemolytic anemia, Hypertriglyceridemia, Normochromic anemia, Decreased HDL cholesterol concentration	OMIM:245900
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Failure to thrive, Splenomegaly, Elevated circulating alkaline phosphat...	OMIM:601847
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Fever, Recurrent fever, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenom...	OMIM:613101
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Allergic rhinitis, Osteopenia, Failure to thrive, Exocrine pancreatic insufficiency, Splenomegaly...	OMIM:612714
Hemochromatosis, Type 4	Increased circulating ferritin concentration, Glucose intolerance, Hepatic steatosis, Anemia, Cir...	OMIM:606069
Congenital Bile Acid Synthesis Defect Type 3	Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa...	ORPHA:79302
Galactose Epimerase Deficiency	Hepatomegaly, Jaundice, Weight loss, Splenomegaly	ORPHA:79238
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Elevated gamma-glutamyltransferase l...	OMIM:617093
Acquired Partial Lipodystrophy	Insulin resistance, Progeroid facial appearance, Hepatic steatosis, Lymphocytosis, Lipoatrophy	ORPHA:79087
Galactosemia Ii	Prolonged neonatal jaundice, Hypergalactosemia	OMIM:230200
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Recurrent otitis media, Splenomegaly, Hepatitis	ORPHA:444463
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Cholestasis, Decreased response to growth hormone stimulation test, Adrenal insufficiency, Hyperb...	OMIM:609734
Hyperbilirubinemia, Rotor Type	Jaundice, Conjugated hyperbilirubinemia	OMIM:237450
Isolated Biliary Atresia	Elevated gamma-glutamyltransferase level, Cholestasis, Hypopituitarism, Xanthelasma, Elevated cir...	ORPHA:30391
Lipodystrophy, Congenital Generalized, Type 1	Elevated circulating hepatic transaminase concentration, Umbilical hernia, Decreased serum leptin...	OMIM:608594
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Gastroesophageal reflux, Increased total bilirubin, Hepatomegaly, Po...	ORPHA:2924
Infantile Sialic Acid Storage Disease	Osteopenia, Failure to thrive, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymp...	OMIM:269920
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen...	OMIM:613404
Mantle Cell Lymphoma	Fever, B-cell lymphoma, Weight loss, Splenomegaly	ORPHA:52416
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,...	OMIM:618528
Undifferentiated Pleomorphic Sarcoma	Soft tissue sarcoma, Weight loss, Fever, Abnormal peritoneum morphology	ORPHA:2023
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level	OMIM:609016
Rft1-Cdg	Hepatomegaly, Failure to thrive	ORPHA:244310
Jaundice, Familial Obstructive, Of Infancy	Jaundice, Neonatal hyperbilirubinemia	OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii	Jaundice, Conjugated hyperbilirubinemia	OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal	Jaundice, Neonatal unconjugated hyperbilirubinemia	OMIM:237900
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Hyperglycinemia...	OMIM:245400
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Citrullinemia Type Ii	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decre...	ORPHA:247585
Idiopathic Congenital Hypothyroidism	Neonatal hyperbilirubinemia, Elevated circulating thyroid-stimulating hormone concentration, Umbi...	ORPHA:95717
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa...	ORPHA:231222
Lambert Syndrome	Jaundice, Intrahepatic biliary atresia, Inguinal hernia	OMIM:245550
Hypercholesterolemia, Familial, 3	Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration	OMIM:603776
Red Cell Phospholipid Defect With Hemolysis	Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Intermittent jaundice	OMIM:179700
Alg6-Cdg	Hypoalbuminemia, Protein-losing enteropathy, Macroglossia, Failure to thrive, Puberty and gonadal...	ORPHA:79320
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia	ORPHA:88643
Obesity And Hypopigmentation	Polyphagia, Hyperinsulinemia, Obesity, Hepatic steatosis	OMIM:620195
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Carcinoid Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Elevated circulating hepatic trans...	ORPHA:100093
Caroli Disease	Elevated gamma-glutamyltransferase level, Cholestasis, Elevated circulating alkaline phosphatase ...	ORPHA:53035
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio...	ORPHA:65682
Patent Ductus Venosus	Hypergalactosemia, Hyperammonemia, Hepatic steatosis, Decreased liver function	OMIM:601466
Desmoplastic Small Round Cell Tumor	Ascites, Cachexia, Weight loss, Abnormal peritoneum morphology, Testicular neoplasm, Hepatomegaly...	ORPHA:83469
Pparg-Related Familial Partial Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Prominent veins on trunk, Loss of facial...	ORPHA:79083
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Gallbladder Disease 1	Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal...	OMIM:600803
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic failure, Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia	OMIM:261650
Lipodystrophy, Congenital Generalized, Type 2	Elevated circulating hepatic transaminase concentration, Umbilical hernia, Decreased serum leptin...	OMIM:269700
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ...	OMIM:620454
Transient Neonatal Diabetes Mellitus	Macroglossia, Maturity-onset diabetes of the young, Failure to thrive, Umbilical hernia, Hypergly...	ORPHA:99886
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Hep...	OMIM:619013
Ddost-Cdg	Osteopenia, Elevated circulating hepatic transaminase concentration, Gastroesophageal reflux, Fai...	ORPHA:300536
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Cystic Echinococcosis	Cholestatic liver disease, Peritoneal abscess, Elevated gamma-glutamyltransferase level, Elevated...	ORPHA:400
Autoimmune Hepatitis	Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Spi...	ORPHA:2137
Congenital Disorder Of Glycosylation, Type Iir	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ...	OMIM:301045
Intrinsic Factor Deficiency	Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio...	OMIM:261000
Gilbert Syndrome	Jaundice, Hepatic failure, Elevated circulating hepatic transaminase concentration, Unconjugated ...	OMIM:143500
Systemic Primary Carnitine Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration	ORPHA:158
Mandibuloacral Dysplasia With Type A Lipodystrophy	Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyp...	OMIM:248370
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Fever, Lymphoma, Splenomegaly, B-cell lymphoma, Weight loss, Hepatomegaly, Breast carcinoma	ORPHA:86893
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia...	ORPHA:79240
Primary Biliary Cholangitis	Elevated gamma-glutamyltransferase level, Xanthelasma, Elevated circulating alkaline phosphatase ...	ORPHA:186
Coproporphyria, Hereditary	Increased fecal coproporphyrin 3, Splenomegaly, Increased fecal coproporphyrin III:coproporphyrin...	OMIM:121300
Acquired Generalized Lipodystrophy	Insulin resistance, Progeroid facial appearance, Insulin-resistant diabetes mellitus, Abnormal ci...	ORPHA:79086
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Ataxia, Hemophagocytosis, Increased circulating ferritin concentration, Increase...	OMIM:267700
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic ...	OMIM:602347
Wolman Disease	Reduced lysosomal acid lipase activity, Failure to thrive, Fever, Acute hepatic failure, Splenome...	OMIM:620151
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Umbilical hernia, Decreased circulating T4 concentration, Abnormality of thyroid physiology, Redu...	ORPHA:95715
Classic Galactosemia	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Ascites, ...	ORPHA:79239
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	ORPHA:26793
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Hepatic steatosis, Failur...	ORPHA:26792
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypocholesterolemia, Elevated circulating aspartate amin...	OMIM:615558
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615158
Macrophage Activation Syndrome	Hypoalbuminemia, Increased circulating lactate dehydrogenase concentration, Hepatitis, Decreased ...	ORPHA:158061
Hypermethioninemia Due To Adenosine Kinase Deficiency	Hypermethioninemia, Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration...	OMIM:614300
Cholestasis, Progressive Familial Intrahepatic, 5	Hepatic failure, Failure to thrive, Hypoglycemia, Ascites, Elevated circulating aspartate aminotr...	OMIM:617049
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma	ORPHA:882
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia	OMIM:608600
Familial Partial Lipodystrophy, Dunnigan Type	Cellulitis, Insulin resistance, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Lipodystroph...	ORPHA:2348
Autoinflammation With Infantile Enterocolitis	Hypoalbuminemia, Reduced natural killer cell count, Increased circulating ferritin concentration,...	OMIM:616050
Hypercholesterolemia, Familial, 2	Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144010
Primary Sclerosing Cholangitis	Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
Harderoporphyria	Increased fecal harderoporphyrin, Neonatal hyperbilirubinemia, Increased circulating ferritin con...	OMIM:618892
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hypogonadotropic...	ORPHA:848
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Broad-based gait, Microcytic anemia	OMIM:618805
Immunodeficiency 114, Folate-Responsive	Recurrent fever, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia...	OMIM:620603
Hyperlipoproteinemia, Type Id	Failure to thrive, Increased circulating chylomicron concentration, Hypertriglyceridemia, Splenom...	OMIM:615947
Pediatric-Onset Graves Disease	Elevated circulating hepatic transaminase concentration, Polydipsia, Graves disease, Failure to t...	ORPHA:525731
Galactose Mutarotase Deficiency	Decreased liver function, Cholestasis, Abnormal circulating enzyme concentration or activity, Hep...	ORPHA:570422
Hyperinsulinemic Hypoglycemia, Familial, 8	Increased C-peptide level, Hypercholesterolemia, Hyperammonemia	OMIM:620211
Combined Oxidative Phosphorylation Deficiency 9	Elevated gamma-glutamyltransferase level, Failure to thrive, Elevated circulating aspartate amino...	OMIM:614582
Wolcott-Rallison Syndrome	Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Elevated circulating hepatic trans...	ORPHA:1667
Lambert Syndrome	Cholestasis, Failure to thrive in infancy, Inguinal hernia, Intrahepatic biliary atresia, Jaundice	ORPHA:1296
Familial Chylomicronemia Syndrome	Failure to thrive, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipi...	ORPHA:444490
Mitchell-Riley Syndrome	Annular pancreas, Pancreatic hypoplasia, Anteriorly placed anus, Meckel diverticulum, Cholestasis...	OMIM:615710
Mandibuloacral Dysplasia	Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a...	ORPHA:2457
Hemochromatosis, Type 2B	Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami...	OMIM:613313
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Cholestatic liver disease, Giant cell hepatitis, Elevated gamma-glutamyltransferase level, Elevat...	OMIM:208085
Mody	Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Pancreatic hypoplasi...	ORPHA:552
Glycogen Storage Disease Iii	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Elevat...	OMIM:232400
Macrocephaly-Intellectual Disability-Autism Syndrome	Thyroid carcinoma, Intestinal polyposis, Hepatic steatosis, Attention deficit hyperactivity disor...	ORPHA:210548
Fanconi-Bickel Syndrome	Hepatic failure, Failure to thrive, Elevated circulating aspartate aminotransferase concentration...	ORPHA:2088
Inflammatory Pseudotumor Of The Liver	Fever, Elevated circulating aspartate aminotransferase concentration, Biliary tract abnormality, ...	ORPHA:90003
Peroxisomal Acyl-Coa Oxidase Deficiency	Elevated circulating hepatic transaminase concentration, Reduced circulating acyl-CoA oxidase act...	OMIM:264470
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Hepatic necrosis, Hepatic steatosis, Decreased 3-hydroxyacyl-CoA dehyd...	OMIM:231530
Babesiosis	Hepatic failure, Limitation of joint mobility, Leukopenia, Splenomegaly, Thrombocytopenia, Anorex...	ORPHA:108
Temple Syndrome	Precocious puberty, Bifid uvula, Maturity-onset diabetes of the young, Recurrent otitis media, De...	OMIM:616222
Cystinosis	Type I diabetes mellitus, Polydipsia, Failure to thrive, Rickets, Portal hypertension, Hypokalemi...	ORPHA:213
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transamin...	OMIM:618329
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Ascites, Polycystic liver disease, Elevated circulating alkaline phosphatase concentration, Incre...	OMIM:174050
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatic failure, Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Cyanosis, Low p...	OMIM:261680
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c...	OMIM:617156
Immunodeficiency 27A	Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytosis, Anemia, Histiocy...	OMIM:209950
Familial Thyroid Dyshormonogenesis	Thyroid defect in oxidation and organification of iodide, Neonatal hyperbilirubinemia, Elevated c...	ORPHA:95716
Secondary Short Bowel Syndrome	Central hypothyroidism, Failure to thrive, Volvulus, Cholestasis, Villous atrophy, Abnormal small...	ORPHA:95427
Cholestasis, Progressive Familial Intrahepatic, 6	Intrahepatic cholestasis, Periportal fibrosis, Elevated circulating hepatic transaminase concentr...	OMIM:619484
Peroxisome Biogenesis Disorder 7A (Zellweger)	Elevated circulating hexacosanoic acid concentration, Elevated circulating tetracosanoic acid con...	OMIM:614872
Congenital Toxoplasmosis	Elevated circulating hepatic transaminase concentration, Ascites, Failure to thrive in infancy, C...	ORPHA:858
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Liver Failure, Infantile, Transient	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, ...	OMIM:613070
X-Linked Agammaglobulinemia	Cellulitis, Recurrent pneumonia, Hepatitis, Failure to thrive, Osteomyelitis, Hypocalcemia, Skin ...	ORPHA:47
O'Donnell-Luria-Rodan Syndrome	Self-injurious behavior, Cryptorchidism, Skin-picking, Aggressive behavior, Prolonged neonatal ja...	OMIM:618512
Dubin-Johnson Syndrome	Abnormality of the liver, Abnormal gastric mucosa morphology, Biliary tract abnormality, Hepatome...	ORPHA:234
Pulmonary Blastoma	Weight loss, Pleuropulmonary blastoma, Fever	ORPHA:64741
Primary Myelofibrosis	Increased circulating lactate dehydrogenase concentration, Fever, Hepatosplenomegaly, Low-grade f...	ORPHA:824
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	ORPHA:71212
Progressive Nodular Histiocytosis	Cachexia, Fever	ORPHA:158022
Carnitine Deficiency, Systemic Primary	Decreased circulating carnitine concentration, Failure to thrive, Recurrent hypoglycemia, Elevate...	OMIM:212140
Somatostatinoma	Increased circulating cortisol level, Increased circulating prolactin concentration, Intestinal o...	ORPHA:97283
Congenital Lethal Erythroderma	Hypoalbuminemia	ORPHA:1954
Late-Onset Isolated Acth Deficiency	Weight loss, Anorexia, Hypoparathyroidism, Celiac disease, Pituitary adenoma, Graves disease, Dec...	ORPHA:199299
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Osteopenia, Hepatitis, Pancreatic hypoplasia, Umbilical hernia, Cholestasis, De...	OMIM:610199
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Increased adipose tissue around the neck, Premature graying of hair, Reduced subcutaneous adipose...	ORPHA:280365
Immunodeficiency 109 With Lymphoproliferation	Hodgkin lymphoma, Splenomegaly, Hypertriglyceridemia	OMIM:620282
Hyperlipoproteinemia, Type I	Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid...	OMIM:238600
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	OMIM:605911
Wilson Disease	Hypouricemia, Osteomalacia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhos...	OMIM:277900
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	OMIM:600649
Vipoma	Erythema, Follicular thyroid carcinoma, Increased circulating cortisol level, Increased circulati...	ORPHA:97282
Ataxia With Vitamin E Deficiency	Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Dysmetria, Gait distu...	OMIM:277460
Familial Hemophagocytic Lymphohistiocytosis	Hemophagocytosis, Erythroderma, Neutropenia, Hepatomegaly, Jaundice, Purpura, Ecchymosis, Lymphad...	ORPHA:540
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Xanthelasma, Obesity, Increased LDL cholesterol concentr...	ORPHA:412
Glycogen Storage Disease Vii	Cholelithiasis, Increased circulating lactate dehydrogenase concentration, Increased total biliru...	OMIM:232800
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
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Hepa...	OMIM:201475
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated circulating hepatic transaminase concentration, Cachexia, Cirrhosis, Weight loss, Hypera...	ORPHA:298
Immunodeficiency 32B	Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocyto...	OMIM:226990
Congenital Isolated Acth Deficiency	Hypoglycemic seizures, Adrenocorticotropin deficient adrenal insufficiency, Hepatitis, Hyponatrem...	ORPHA:199296
Chylomicron Retention Disease	Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypocholesterolemia, ...	ORPHA:71
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Recu...	OMIM:603553
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Fasting hypoglycemia, Truncal obesity, Hypoinsu...	OMIM:240900
Griscelli Syndrome Type 2	Hemophagocytosis, Premature graying of hair, Pancytopenia, Hyperlipidemia, Splenomegaly, Petechia...	ORPHA:79477
Lysosomal Acid Lipase Deficiency	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Failu...	ORPHA:275761
Fetal Cytomegalovirus Syndrome	Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Petechiae, Anem...	ORPHA:294
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating iron concentration, Increased circulating ferritin concentration, Reduced r...	ORPHA:766
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver	ORPHA:1980
Erythroleukemia, Familial, Susceptibility To	Leukemia, Splenomegaly, Acute myeloid leukemia, Hepatomegaly, Refractory anemia with ringed sider...	OMIM:133180
Bile Acid Malabsorption, Primary, 2	Elevated gamma-glutamyltransferase level, Periportal fibrosis, Decreased circulating chenodeoxych...	OMIM:619481
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Bifid uvula, Elevated circulating hepatic transaminase concentration, H...	OMIM:614921
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran...	OMIM:255120
Immunodeficiency 104	Pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Recurrent otitis media, Sple...	OMIM:608971
Isolated Sedoheptulokinase Deficiency	Cholestatic liver disease, Postprandial hyperglycemia, Hepatitis, Cholestasis, Portal hypertensio...	ORPHA:440713
Infantile Liver Failure Syndrome 1	Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute hepatic failure...	OMIM:615438
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Platelet-Activating Factor Acetylhydrolase Deficiency	Platelet-activating factor acetylhydrolase deficiency, Increased level of platelet-activating factor	OMIM:614278
Isolated Thyroid-Stimulating Hormone Deficiency	Increased pituitary glycoprotein hormone alpha subunit level, Neonatal hyperbilirubinemia, Failur...	ORPHA:90674
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Lipid accumulation in hepatocytes, Elevated circulating alanine aminotransferase concentration, H...	OMIM:608836
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased circulating cortisol level, Increased urinary cortisol level, Hepatic steatosis, Increa...	ORPHA:189427
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Splenomegaly	ORPHA:46532
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Acute hepat...	ORPHA:131
Ppoma	Increased circulating cortisol level, Increased circulating prolactin concentration, Intestinal o...	ORPHA:97278
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t...	ORPHA:228305
Leishmaniasis	Hypoalbuminemia, Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Thromboc...	ORPHA:507
Congenital Disorder Of Glycosylation, Type Iih	Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c...	OMIM:611182
Tangier Disease	Hypertriglyceridemia, Splenomegaly, Elevated circulating apolipoprotein A-II concentration, Left ...	OMIM:205400
Congenital Enterocyte Heparan Sulfate Deficiency	Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ...	ORPHA:103910
Congenital Pancreatic Cyst	Jaundice, Pancreatitis, Anorexia	ORPHA:313906
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra...	ORPHA:79095
Whipple Disease	Insulin resistance, Uveitis, Gastrointestinal hemorrhage, Polydipsia, Splenomegaly, Infectious en...	ORPHA:3452
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Premature grayi...	ORPHA:381
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Elevated gamma-glutamyltransferase level, Painless fractures due to injury, Recurrent hypoglycemi...	OMIM:256810
Hardikar Syndrome	Portal inflammation, Cholestasis, Hypersplenism, Hepatosplenomegaly, Hyperbilirubinemia, Cleft so...	OMIM:301068
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a...	OMIM:617021
Caroli Syndrome	Hypersplenism, Hyperbilirubinemia, Congenital hepatic fibrosis, Elevated circulating alkaline pho...	ORPHA:480520
Cholestasis, Benign Recurrent Intrahepatic, 2	Intrahepatic cholestasis, Cholelithiasis, Elevated circulating alkaline phosphatase concentration...	OMIM:605479
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hyper...	OMIM:618398
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal...	OMIM:308240
Senior-Boichis Syndrome	Malformation of the hepatic ductal plate, Hepatic fibrosis, Elevated circulating hepatic transami...	ORPHA:84081
Cholestasis, Intrahepatic, Of Pregnancy, 1	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Increased seru...	OMIM:147480
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Hepatitis, Increased circulating ferritin concentration, Splenomegaly, Hepatomega...	OMIM:194380
Glucagonoma	Increased circulating cortisol level, Increased circulating prolactin concentration, Acanthocytos...	ORPHA:97280
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Type I diabetes mellitus, Hepatitis, Acute hepatic failure, Failure to thrive in infancy, Hepatos...	ORPHA:228426
Multicentric Reticulohistiocytosis	Cachexia, Fever	ORPHA:139436
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated circulating hepatic transaminase concentration, Failure to thrive, Recurrent fever, Sple...	OMIM:617591
Familial Pancreatic Carcinoma	Peritoneal abscess, Elevated circulating hepatic transaminase concentration, Intestinal pseudo-ob...	ORPHA:1333
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Gait disturbance, Hyperlipidemia, Mildly elevated creatine kinase, Hand tremor	OMIM:604484
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Psoriasiform dermatitis, Crusting erythematous dermatitis, ...	ORPHA:37042
Abdominal Obesity-Metabolic Syndrome 4	Elevated hemoglobin A1c, Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased...	OMIM:618620
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t...	ORPHA:159
Cyanosis, Transient Neonatal	Cyanosis, Reticulocytosis, Methemoglobinemia, Anemia, Hepatomegaly, Jaundice	OMIM:613977
Pearson Marrow-Pancreas Syndrome	Erythema, Sideroblastic anemia, Pancytopenia, Hyperbilirubinemia, Neutropenia, Anorexia, Hepatome...	OMIM:557000
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Increased circulating lactate dehydrogenase concentration, Hyp...	OMIM:611881
Cronkhite-Canada Syndrome	Gastrointestinal carcinoma, Stomach cancer, Intestinal polyposis, Splenomegaly, Neoplasm, Cachexi...	ORPHA:2930
Eosinophilic Gastroenteritis	Hypoalbuminemia, Leukocytosis, Anemia, Eosinophilia, Elevated circulating C-reactive protein conc...	ORPHA:2070
Sitosterolemia 1	Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Xanthelasma, Reticulocytosis, Reduc...	OMIM:210250
Refractory Celiac Disease	Hypoalbuminemia, Normocytic anemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology...	ORPHA:398063
Immunodeficiency 56	Hepatic failure, Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic hepati...	OMIM:615207
Autosomal Agammaglobulinemia	Cellulitis, Bronchiectasis, Hepatitis, Failure to thrive, Osteomyelitis, Skin rash, Arthritis, Si...	ORPHA:33110
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Abnormal dental enamel morphology, Cholestasis, Portal hypertension, Splenomegaly, Scarring alope...	ORPHA:59303
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Unconjugated hyperbilirubinemia, Reduced red cell pyruvate kinase level, Erythroi...	OMIM:266200
Body Mass Index Quantitative Trait Locus 19	Hyperlipidemia, Hypertriglyceridemia	OMIM:617885
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Intrahepatic Cholestasis Of Pregnancy	Elevated circulating hepatic transaminase concentration, Abnormal pineal melatonin secretion, Asc...	ORPHA:69665
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Cholecystitis, Reticulocytos...	OMIM:235700
Dominant Beta-Thalassemia	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,...	ORPHA:231226
Adult-Onset Still Disease	Erythema, Weight loss, Neutrophilia, Elevated circulating C-reactive protein concentration, Hepat...	ORPHA:829
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid...	ORPHA:567548
Rajab Interstitial Lung Disease With Brain Calcifications 1	Cholestasis, Slender build, Pancytopenia, Hepatic steatosis, Cirrhosis, Unconjugated hyperbilirub...	OMIM:613658
Non-Acquired Isolated Growth Hormone Deficiency	Premature skin wrinkling, Delayed puberty, Abdominal obesity, Prolonged neonatal jaundice, Neonat...	ORPHA:631
3-Methylglutaconic Aciduria Type 1	Hepatomegaly, Failure to thrive, Hypoglycemia	ORPHA:67046
Zollinger-Ellison Syndrome	Erythema, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urina...	ORPHA:913
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Aids Wasting Syndrome	Cachexia, Weight loss	ORPHA:90081
Muscular Pseudohypertrophy-Hypothyroidism Syndrome	Jaundice, Macroglossia, Hypothyroidism, Umbilical hernia	ORPHA:2349
Trichohepatoenteric Syndrome 2	Decreased circulating iron concentration, Failure to thrive, Villous atrophy, Cirrhosis, Chronic ...	OMIM:614602
Diencephalic Syndrome	Neoplasm of the nervous system, Cachexia, Decreased body weight	ORPHA:1672
Hepatorenocardiac Degenerative Fibrosis	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hepatosplenom...	OMIM:619902
N-Acetylglutamate Synthase Deficiency	Failure to thrive, Reduced hepatic N-acetylglutamate synthase activity, Hyperammonemia, Hypotherm...	OMIM:237310
Grfoma	Increased circulating cortisol level, Increased circulating prolactin concentration, Intestinal o...	ORPHA:97261
Insulinoma	Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden...	ORPHA:97279
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Type I diabetes mellitus, Hepatitis, Failure to thrive, Eczematoid dermatitis, Decreased FOXP3-ex...	OMIM:304790
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ...	OMIM:618641
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Villous atrophy, Increased int...	OMIM:619377
Solitary Fibrous Tumor	Hypoglycemia, Recurrent hypoglycemia, Pelvic mass, Hypophosphatemic rickets, Neoplasm of the live...	ORPHA:2126
Legionnaires Disease	Cellulitis, Bone marrow hypocellularity, Hepatitis, Lymphopenia, Splenomegaly, Infectious encepha...	ORPHA:549
Niemann-Pick Disease, Type A	Failure to thrive, Sea-blue histiocytosis, Ascites, Elevated circulating aspartate aminotransfera...	OMIM:257200
Anemia, Congenital Dyserythropoietic, Type Ia	Increased circulating lactate dehydrogenase concentration, Macrocytic dyserythropoietic anemia, E...	OMIM:224120
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Lysinuric Protein Intolerance	Hemophagocytosis, Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, O...	ORPHA:470
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Type I diabetes mellitus, Gastroesophageal reflux, Hepatitis, Failure to thrive in infancy, Hyper...	OMIM:613385
Dehydrated Hereditary Stomatocytosis	Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Increased mean corp...	ORPHA:3202
Cholestasis, Intrahepatic, Of Pregnancy 3	Abnormal liver function tests during pregnancy, Intrahepatic cholestasis, Jaundice, Increased ser...	OMIM:614972
Congenital Disorder Of Glycosylation, Type Iik	Unexplained fevers, Failure to thrive, Elevated circulating aspartate aminotransferase concentrat...	OMIM:614727
Nphp3-Related Meckel-Like Syndrome	Abnormal liver parenchyma morphology, Abnormality of the pancreas, Abnormal biliary tract morphology	ORPHA:3032
Acth Deficiency, Isolated	Cholestasis, Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrena...	OMIM:201400
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Splenomegaly	OMIM:606445
Type 1 Diabetes Mellitus	Polydipsia, Hyperglycemia, Polyphagia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes ...	OMIM:222100
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Hemoglobin H Disease	Hepatomegaly, Splenomegaly	OMIM:613978
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Hepatomegaly, Abnormal circulating creatine kinase concentration, Elevated circulating hepatic tr...	ORPHA:369840
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic failure, Portal fibr...	OMIM:617394
Immunodeficiency 47	Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans...	OMIM:300972
Congenital Analbuminemia	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin	ORPHA:86816
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili...	OMIM:616689
Hydroxykynureninuria	Jaundice	OMIM:236800
Peroxisome Biogenesis Disorder 12A (Zellweger)	Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hepatic failure, Hyperbi...	OMIM:614886
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Periodontitis, Xanthelasma, Hepatic steatosis, Polycystic ov...	ORPHA:79259
Combined Oxidative Phosphorylation Deficiency 21	Hyperprolinemia, Hyperalaninemia, Hepatic steatosis	OMIM:615918
Mitochondrial Myopathy, Infantile, Transient	Decreased circulating carnitine concentration, Failure to thrive, Increased muscle lipid content,...	OMIM:500009
3-Hydroxy-3-Methylglutaric Aciduria	Elevated circulating hepatic transaminase concentration, Fever, Hyperammonemia, Hyperuricemia, Li...	ORPHA:20
Lipoyltransferase 1 Deficiency	Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased tota...	OMIM:616299
Neonatal Alloimmune Neutropenia	Pneumonia, Jaundice, Maternal diabetes, Neutropenia in presence of anti-neutropil antibodies	ORPHA:464370
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Failure to thrive, Decreased liver function, Acute hepatitis, Hyperornithinemia, Hyperammonemia, ...	OMIM:238970
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Glycogen Storage Disease Ixb	Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly, Redu...	OMIM:261750
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia	OMIM:256300
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Failure to thrive, Polysplenia, Hypoglycemia, Exocri...	OMIM:619418
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Hepatitis	ORPHA:363523
Sepsis In Premature Infants	Temperature instability, Fever, Decreased liver function, Splenomegaly, Hypothermia, Decreased bo...	ORPHA:90051
Lathosterolosis	Hepatic fibrosis, Intrahepatic cholestasis, Elevated circulating lathosterol concentration, Eleva...	OMIM:607330
Morgagni-Stewart-Morel Syndrome	Acne, Obesity, Abnormality of the thyroid gland, Hyperuricemia, Hypothyroidism, Hypercholesterole...	ORPHA:77296
Gaucher Disease Type 1	Hepatosplenomegaly, Hypersplenism, Pancytopenia, Cirrhosis, Anorexia, Hepatomegaly, Elevated circ...	ORPHA:77259
Congenital Rubella Syndrome	Type I diabetes mellitus, Skin rash, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly, Jaundice	ORPHA:290
Reni Syndrome	Hypoalbuminemia, Lymphopenia, Ataxia, Hypertriglyceridemia	OMIM:617575
Lcat Deficiency	Hemolytic anemia, Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, D...	ORPHA:650
Idiopathic Copper-Associated Cirrhosis	Cirrhosis, Hepatic steatosis, Increased circulating copper concentration, Copper accumulation in ...	ORPHA:209919
Abetalipoproteinemia	Hyperbilirubinemia, Acanthocytosis, Hepatic steatosis, Cirrhosis, Hepatomegaly, Osteopenia, Hypot...	ORPHA:14
Immunodeficiency 43	Hypoalbuminemia, Reduced natural killer cell count, Decreased circulating beta-2-microglobulin le...	OMIM:241600
Infantile Liver Failure Syndrome 2	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Acute hepatic failure, Hyp...	OMIM:616483
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Hypoglycemi...	ORPHA:348
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Failure to thrive	ORPHA:2089
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Precocious puberty, Maturity-onset diabetes of the young, Recurrent otitis media, Obesity, Joint ...	ORPHA:254531
Obesity Due To Congenital Leptin Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:66628
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Mccune-Albright Syndrome	Increased circulating cortisol level, Increased circulating prolactin concentration, Osteomalacia...	ORPHA:562
Sandhoff Disease	Hepatomegaly, Splenomegaly, Failure to thrive, Abnormal glycosphingolipid metabolism	ORPHA:796
Anemia, Congenital Dyserythropoietic, Type Iv	Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Reduced haptoglobin level, A...	OMIM:613673
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Hypercholesterolemia	OMIM:616730
Beta-Thalassemia Major	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,...	ORPHA:231214
Reynolds Syndrome	Gastroesophageal reflux, Xerostomia, Generalized abnormality of skin, Ascites, Skin rash, Abnorma...	ORPHA:779
Coenzyme Q10 Deficiency, Primary, 5	Decreased level of coenzyme Q10 in skeletal muscle, Left ventricular hypertrophy, Hyperalaninemia...	OMIM:614654
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Macrovesicular hepatic steatosis, Failure to thrive	OMIM:618234
Progeria-Short Stature-Pigmented Nevi Syndrome	Decreased serum estradiol, Osteopenia, Elevated circulating hepatic transaminase concentration, S...	ORPHA:2959
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
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Pneumonia, Recurrent pneumonia, Hepatitis, Failure to thrive secondary to recurrent infections, L...	ORPHA:169160
Obesity Due To Leptin Receptor Gene Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:179494
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia, Postural tremor, Gait ataxia, Action tremor, Thrombocytopenia, Unsteady gait, In...	OMIM:254900
Congenital Enterovirus Infection	Hypoalbuminemia, Hepatic failure, Fetal ascites, Hepatitis, Fever, Cholestasis, Hyperammonemia, H...	ORPHA:292
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated circulating hepatic transaminase concentration, Decreased circulating carnitine concentr...	OMIM:201450
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Hepatomegaly, Large for gestational age	ORPHA:2432
Pseudo-Torch Syndrome 1	Elevated circulating hepatic transaminase concentration, Failure to thrive, Decreased liver funct...	OMIM:251290
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Jaundice, Reduced...	OMIM:224100
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration...	ORPHA:822
Mirizzi Syndrome	Cholelithiasis, Elevated circulating hepatic transaminase concentration, Anorexia, Hyperbilirubin...	ORPHA:521219
Hypothyroidism Due To Tsh Receptor Mutations

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us