Gene Summary

Name:
nuclear receptor subfamily 1, group H, member 4
Synonyms:
Fxr,  RIP14,  HRR1,  FXR,  Rxrip14

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal tail movements Nr1h4Nr1h4 HOM   Early adult 1.70×10-05
hypoactivity Nr1h4Nr1h4 HOM   Early adult 2.02×10-05
increased circulating alkaline phosphatase level Nr1h4Nr1h4 HOM Early adult 1.79×10-30
increased circulating HDL cholesterol level Nr1h4Nr1h4 HOM Early adult 5.25×10-12
increased circulating aspartate transaminase level Nr1h4Nr1h4 HOM Early adult 3.55×10-27
increased circulating triglyceride level Nr1h4Nr1h4 HOM Early adult 3.69×10-13
increased startle reflex Nr1h4Nr1h4 HOM   Early adult 9.30×10-06
decreased mean corpuscular volume Nr1h4Nr1h4 HOM Early adult 6.76×10-07
increased circulating cholesterol level Nr1h4Nr1h4 HOM Early adult 9.41×10-27
increased circulating alanine transaminase level Nr1h4Nr1h4 HOM Early adult 5.02×10-27
decreased circulating serum albumin level Nr1h4Nr1h4 HOM Early adult 8.92×10-09
increased lactate dehydrogenase level Nr1h4Nr1h4 HOM Early adult 1.21×10-08

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

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.

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
Hypoglycemia, Ascites, Failure to thrive, Hyperammonemia, Cirrhosis, Elevated circulating asparta... OMIM:617049
Intrahepatic Cholestasis Of Pregnancy
Ascites, Small for gestational age, Hyperbilirubinemia, Abnormality of the pancreas, Increased se... ORPHA:69665

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
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
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hepatomegaly, Hypertriglyceridemia, Elevated hepatic transaminase OMIM:306000
Glycogen Storage Disease Vi
Hepatomegaly, Failure to thrive in infancy, Hyperlipidemia, Increased hepatic glycogen content, H... OMIM:232700
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Failure to thrive in infancy, Fever, Splenomegaly, Hypertriglyceridemia OMIM:619175
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Proximal Myopathy With Focal Depletion Of Mitochondria
Elevated circulating creatine kinase concentration OMIM:600706
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia OMIM:606664
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Fish-Eye Disease
Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration, Decreased HDL ... OMIM:136120
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia, Elevated h... OMIM:614480
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Ataxia, Steppage gait, Hypoalbuminemia OMIM:607250
Glycogen Storage Disease Xiii
Elevated circulating creatine kinase concentration OMIM:612932
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... OMIM:144250
Hepatocellular Carcinoma
Subacute progressive viral hepatitis, Micronodular cirrhosis, Hepatocellular carcinoma OMIM:114550
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Decreased circulating ceruloplasmin concentration, Decre... OMIM:616829
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypercholesterolemia, Cirrhosis, Hyp... OMIM:605814
Lipodystrophy, Familial Partial, Type 5
Abnormal circulating lipid concentration, Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis OMIM:615238
Complement Component 4B Deficiency
Chronic active hepatitis OMIM:614379
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Insulin resistance, Lipodystrophy, Reduced subcutaneous adipose tissue, Generalized... OMIM:612526
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Gait disturbance, Hypertriglyceridemia, Elevated circula... OMIM:616516
Cirrhosis, Familial
Cirrhosis, Chronic active hepatitis, Hepatitis OMIM:118900
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypercholestero... OMIM:615703
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis OMIM:613783
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Hemochromatosis, Neonatal
Increased serum iron, Abnormality of iron homeostasis, Hepatocellular necrosis, Hepatic fibrosis,... OMIM:231100
Cyanosis And Hepatic Disease
Hepatitis, Abnormal abdomen morphology OMIM:219400
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:610947
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Ataxia, Steppage gait, Hypoalbuminemia ORPHA:94124
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Hepatic steatosis, Hypertriglyc... OMIM:610717
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Rickets, Hypocholesterolemia, Failure to thri... OMIM:607765
Obesity Due To Prohormone Convertase I Deficiency
Increased adipose tissue, Central adrenal insufficiency, Polyphagia, Failure to thrive, Decreased... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Increased adipose tissue, Central adrenal insufficiency, Polyphagia, Failure to thrive, Decreased... ORPHA:71526
Pediatric Hepatocellular Carcinoma
Elevated alpha-fetoprotein, Hepatomegaly, Hepatic necrosis, Hepatic fibrosis ORPHA:33402
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Polyphagia, Exce... ORPHA:324575
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Hyperlipidemia, Malabsorption, Splenomegaly, Cirrhosis, Conjugated hyperbilirubinem... OMIM:214900
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatic fibrosis, Insulin-resistant diabetes mellit... ORPHA:280356
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Elevated hepatic transaminase, Increased LDL cholesterol concentration, Elevated ci... OMIM:616828
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Abnormal serum bil... ORPHA:79303
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Increased hepatic glycogen content, Truncal obesity, Neonatal hypoglyce... ORPHA:293964
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... ORPHA:139507
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Hyperlipidemia, Acholic stools, Biliary tract abnormality, Abnormality of the lymph... ORPHA:1414
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hypoglycemia, Ascites, Failure to thrive, Cirrhosis, Cholestasi... OMIM:617156
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Splenomegaly ORPHA:294
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Failure to thrive, Osteoporosis, Malabsorption, Splenomegaly, Cirrhosis, Gastrointe... ORPHA:79301
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Failure to thrive, Malabsorption, Splenomegaly, Reduced bone mineral density, Chole... ORPHA:172
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Hypercholesterolemia, Cirrhosis, Hypertriglyceridemia, Hepatic failur... ORPHA:75234
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Polyphagia, Decreased response to growth hormone stimulation test, Hyperbi... OMIM:609734
Niemann-Pick Disease, Type B
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, S... OMIM:607616
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Tremor, Hyperactivity, Ataxia, Hypertriglyceridemia OMIM:615924
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Lipoatrophy, Diabetes mellitus, Hypertriglyceridemia OMIM:613877
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Hepatitis, Hepatic failure, Jaundice ORPHA:60
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Inflammation of the large intestine, Folliculitis, Hepatitis, Acne, Splenomegaly, I... OMIM:300635
Lysosomal Acid Lipase Deficiency
Splenomegaly, Hepatosplenomegaly, Hypersplenism, Steatorrhea, Reduced lysosomal acid lipase activ... OMIM:278000
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Recurrent fever, Fever, Splenomegaly, Increased circulating ferritin concentration,... OMIM:603552
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Splenomegaly, Increased circulating ferritin concentration, Hepatos... ORPHA:158057
Congenital Generalized Lipodystrophy
Hepatomegaly, Bone cyst, Precocious puberty in females, Insulin resistance, Macroglossia, Failure... ORPHA:528
Lipase Deficiency, Combined
Pancreatitis, Hypertriglyceridemia OMIM:246650
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Acholic stools, Hepatitis, Splenomegaly, Cirrhosis, Steatorrhea, Elevated circulati... OMIM:613812
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Abnormal circulating lipid concentration, Elevated circulating creatine kinas... OMIM:615980
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Hypertriglyceridemia, Fever OMIM:608898
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating transferrin c... OMIM:616000
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Hypertriglyceridemia 1
Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:145750
Hyperlipoproteinemia, Type Iv
Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:144600
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Hypertriglyceridemia ORPHA:436182
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Hyperbilirubinemia, Macrovesicular hepatic steato... OMIM:613070
Mulibrey Nanism
Hepatomegaly, Cachexia ORPHA:2576
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Postural tremor, Dystonia, Gait imbalance, Elevated circulating creatine kinase concentration, Hy... ORPHA:64753
Lipodystrophy, Familial Partial, Type 7
Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Loss of subcutaneous adipo... OMIM:606721
Chylomicron Retention Disease
Hypocholesterolemia, Hypotriglyceridemia, Steatorrhea, Hypoalbuminemia, Decreased LDL cholesterol... OMIM:246700
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Polyphagia, Exce... ORPHA:276580
Edinburgh Malformation Syndrome
Jaundice, Failure to thrive, Neonatal hyperbilirubinemia OMIM:129850
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hepatocellular necrosis, Hypothermia, Ascites, Failure to thrive, Depletion of mito... OMIM:251880
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Polyphagia, Focal pancreatic islet ... ORPHA:276575
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia, Abnormality of the liver, Prolonged... ORPHA:79234
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Maternal diabetes, Loss of subcutaneous adipose tissue i... OMIM:604367
Wolman Disease
Hepatomegaly, Cachexia, Ascites, Fever, Splenomegaly, Steatorrhea, Hepatic failure ORPHA:75233
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Epiphyseal stippling, Glossoptosis, Elevated circulating aspartate aminotransferase... OMIM:614876
Halothane Hepatitis
Viral hepatitis, Hepatitis, Jaundice OMIM:234350
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Attention deficit hyperactivity disorder OMIM:301033
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity,... ORPHA:71529
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Polyphagia, Excessive insulin response to glucagon test, ... ORPHA:276556
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Hypercholesterolemia, Tremor, Ataxia, Truncal ataxia, Hypoalbuminemia, Limb ataxia, Gai... OMIM:208920
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Hepatic fibrosis, Portal fibrosis, Iron deficiency anemia, Hyperbilirubinemia, Sple... OMIM:616278
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase OMIM:618400
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Telangiectasia, Insulin resistance, Osteoporosis, Lipodystrophy, Hypogonadism, Hepa... OMIM:615381
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Hyperbilirubinemia, Hepatic fa... OMIM:214950
Neonatal Hemochromatosis
Increased serum iron, Hypoglycemia, Congenital hepatic fibrosis, Increased circulating ferritin c... ORPHA:446
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Anemia of... OMIM:237800
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Hepatocellular carcinoma, Ballooning hepatocyte degeneration, Pancreatitis, Hyp... OMIM:603471
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Failure to thrive, Hyperbilirubinemia, Splenomegaly, Steatorrhea, Elevated circulat... OMIM:235555
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Insulin resistance, Polycystic ovaries, Pancreatitis, Hepatic steatosis, Lipoatroph... ORPHA:79084
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin resistance, I... ORPHA:435660
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Failure to thrive, Hyperbilirubinemia, Decreased liver function, Hepatic steatos... OMIM:614300
Hepatic Veno-Occlusive Disease
Hepatomegaly, Ascites, Increased total bilirubin, Elevated hepatic transaminase, Increased body w... ORPHA:890
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Abnormal enzyme/coenzyme activity, Intermitten... ORPHA:3111
Hypercholanemia, Familial, 2
Prolonged neonatal jaundice, Increased serum bile acid concentration, Osteopenia OMIM:619256
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Decreased c... OMIM:207750
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Esophageal varix, Hepatic fibrosis, Bile duct proliferation, Elevated gamma-glutamy... OMIM:619662
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, El... OMIM:619658
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hyperlipidemia, Insulin resistance, Insulin-resistant diabetes mellitus, Lipodystro... ORPHA:79085
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia, Biliary tract abnormality, Jaundice OMIM:237500
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Rickets, Failure to thrive, Cholelithiasis, Osteopenia, Cirrhosis, Splenomegaly, In... OMIM:211600
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Hypochromia, Type II diabetes mellitus, Elevated hepatic iron concentration, Erythr... OMIM:616860
Lipodystrophy, Congenital Generalized, Type 4
Pyloric stenosis, Hepatomegaly, Dysphagia, Insulin resistance, Elevated circulating creatine kina... OMIM:613327
Galactosemia Iii
Hepatomegaly, Hypergalactosemia, Failure to thrive, Splenomegaly, Jaundice OMIM:230350
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Decreased plasma free carnitine, Hypoglycemia, Failure to thrive, Hyperalaninemia, ... OMIM:619048
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Normochromic anemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:245900
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Acute hepatic steatosis, Hepatitis, Hypercholesterolemia... ORPHA:209902
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hypertriglyceridemia, Hepatic failure OMIM:177000
Galactokinase Deficiency
Hepatomegaly, Hypergalactosemia, Hypoglycemia, Small for gestational age, Failure to thrive, Hype... ORPHA:79237
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia, Jaundice OMIM:237900
Biliary Atresia, Extrahepatic
Hepatomegaly, Unconjugated hyperbilirubinemia, Portal fibrosis, Acholic stools, Atretic gallbladd... OMIM:210500
Bile Acid Conjugation Defect 1
Hepatomegaly, Rickets, Elevated circulating aspartate aminotransferase concentration, Elevated ci... OMIM:619232
Combined Oxidative Phosphorylation Deficiency 16
Elevated hepatic transaminase, Microvesicular hepatic steatosis OMIM:615395
Cog7-Cdg
Hepatomegaly, Small for gestational age, Elevated circulating creatine kinase concentration, Exce... ORPHA:79333
Multiple Symmetric Lipomatosis
Hepatomegaly, Insulin resistance, Abnormal adipose tissue morphology, Joint stiffness, Multiple l... ORPHA:2398
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin-resistant dia... ORPHA:435651
Glycogen Storage Disease Ixb
Hepatomegaly, Increased hepatic glycogen content OMIM:261750
Graft Versus Host Disease
Stomatitis, Lymphadenopathy, Fasciitis, Hepatosplenomegaly, Dupuytren contracture, Elevated circu... ORPHA:39812
Lipodystrophy, Familial Partial, Type 2
Increased facial adipose tissue, Hepatomegaly, Decreased HDL cholesterol concentration, Loss of s... OMIM:151660
Hepatoportal Sclerosis
Esophageal varix, Hepatocellular carcinoma, Ascites, Leukopenia, Anemia, Hyperbilirubinemia, Gast... ORPHA:64743
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Villous atrophy, Hepatic fibrosis, Hyperlipidemia, Small for gestational age, Abnor... ORPHA:567983
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Hypoglycemia, Esophageal varix, Portal fibrosis, Splenomegaly, Abnormal ery... ORPHA:264580
Low Phospholipid-Associated Cholelithiasis
Cholangitis, Hepatocellular carcinoma, Sclerosing cholangitis, Biliary tract obstruction, Choleli... ORPHA:69663
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Insulin resistance, Reduced subcutaneous adipose tissue, Reduced intraabdominal adi... ORPHA:363400
Hepatitis, Fulminant Viral, Susceptibility To
Hepatomegaly, Fulminant hepatitis, Type I diabetes mellitus, Hepatic failure, Elevated hepatic tr... OMIM:618549
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Decreased hepcidin level, Diabetes mellitus, Abnorm... ORPHA:101330
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Hepatic steatosis OMIM:615595
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Temple Syndrome
Cleft palate, High palate, Small for gestational age, Maturity-onset diabetes of the young, Recur... OMIM:616222
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Hyperammonemia, Hyperthreoninemia, Gastrointestinal hemorrhage, Hepatosplenome... ORPHA:247598
Crigler-Najjar Syndrome Type 2
Prolonged neonatal jaundice, Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79235
Hemochromatosis, Type 4
Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Anemia, Elevated transferrin satur... OMIM:606069
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Increased total bilirubin, Cholestasis, Hepatic failure, Elevated hepatic transamin... OMIM:618528
Acquired Partial Lipodystrophy
Insulin resistance, Progeroid facial appearance, Hepatic steatosis, Lipoatrophy, Lymphocytosis ORPHA:79087
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent fever, Fever, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenom... OMIM:613101
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Failure to thrive, Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase OMIM:617093
Galactosemia Iv
Prolonged neonatal jaundice, Hypergalactosemia OMIM:618881
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma, Weight loss, Abnormality of the peritoneum, Fever ORPHA:2023
Isolated Polycystic Liver Disease
Hepatomegaly, Increased total bilirubin, Polycystic liver disease, Abnormality of the pancreas, G... ORPHA:2924
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Congenital Bile Acid Synthesis Defect Type 3
Bile duct proliferation, Hyperbilirubinemia, Cirrhosis, Elevated circulating aspartate aminotrans... ORPHA:79302
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Hepatocellular carcinoma, Failure to thrive, Splenomegaly, Cirrhosis, Conjugated hy... OMIM:601847
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Recurrent otitis media, Hepatitis, Splenomegaly ORPHA:444463
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Galactosemia Ii
Prolonged neonatal jaundice, Hypergalactosemia OMIM:230200
Glycogen Storage Disease Ixc
Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly, Cirrhosi... OMIM:613027
Mantle Cell Lymphoma
Weight loss, B-cell lymphoma, Fever, Splenomegaly ORPHA:52416
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Giant cell hepatitis, Right ventricular hypertrophy, Failure to thrive, Arthrogryposis multiplex ... OMIM:613404
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Fasting hypoglycemia, Esophageal varix, Hepatocellular carcinoma, Portal fibrosis, ... ORPHA:370
Wilson Disease
Hepatomegaly, Failure to thrive, Weight loss, Hepatitis, Anemia, Arthritis, Acute hepatitis, Sple... ORPHA:905
Isolated Biliary Atresia
Acholic stools, Splenomegaly, Conjugated hyperbilirubinemia, Elevated circulating alkaline phosph... ORPHA:30391
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Hypoglycemia, Portal fibrosis, Hyperlipidemia, Hepatocellular carcinoma, Increased ... ORPHA:369
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia, Jaundice OMIM:237450
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Erythroid hyperplasia, Anemia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, A... OMIM:613673
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Hyperbilirubinemia, Splenomegaly OMIM:179700
Rft1-Cdg
Failure to thrive, Hepatomegaly ORPHA:244310
Infantile Sialic Acid Storage Disease
Hepatomegaly, High palate, Ascites, Failure to thrive, Vacuolated lymphocytes, Cardiomegaly, Sple... OMIM:269920
Hyperlipoproteinemia, Type Id
Hepatomegaly, Colitis, Hyperlipoproteinemia, Splenomegaly OMIM:615947
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Weight loss, Splenomegaly ORPHA:79238
Combined Oxidative Phosphorylation Deficiency 52
Hyperamylasemia, Adrenal insufficiency, Hypoglycemia, Elevated circulating creatine kinase concen... OMIM:619386
Jaundice, Familial Obstructive, Of Infancy
Jaundice, Neonatal hyperbilirubinemia OMIM:308600
Reticuloendotheliosis, X-Linked
Lymphadenopathy, Hepatosplenomegaly, Anemia, Jaundice OMIM:312500
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia, Jaundice OMIM:237550
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia, Jaundice OMIM:606785
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Elevated cir... ORPHA:171706
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cachexia, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperam... ORPHA:42
Immunodeficiency 48
Hepatomegaly, Eczematoid dermatitis, Pneumonia, Splenomegaly OMIM:269840
Citrullinemia Type Ii
Hypoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hyperli... ORPHA:247585
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypoglycemia, Failure to thrive, Primary adrenal insufficiency, Hypogonadism, Hepat... OMIM:617872
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatomegaly, Hypoglycemia, Elevated hepatic transaminase, Fail... OMIM:256810
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Polyphagia, Umbilical hernia, Insulin-resistant diabetes mellitus at puberty, Reduc... OMIM:608594
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia, Hepatic failure OMIM:261650
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Xanthelasma, Abnormal LDL cholesterol concentration OMIM:603776
Cholangiocarcinoma
Biliary tract neoplasm, Acholic stools, Jaundice ORPHA:70567
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly OMIM:605911
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia of inadequate production, Allergic rhinitis, Failure to thrive, Anemia, Sple... OMIM:612714
Alg6-Cdg
Macroglossia, Failure to thrive, Abnormality of the liver, Increased circulating androgen concent... ORPHA:79320
Cystic Echinococcosis
Hepatomegaly, Bone cyst, Splenic cyst, Peritoneal abscess, Biliary tract obstruction, Hepatic cys... ORPHA:400
Beta-Thalassemia Intermedia
Adrenal insufficiency, Reduced bone mineral density, Splenomegaly, Hepatosplenomegaly, Diabetes m... ORPHA:231222
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia, Jaundice OMIM:218800
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Broad-based gait, Hypoalbuminemia OMIM:618805
Macrophage Activation Syndrome
Hepatomegaly, Neutropenia, Lymphadenopathy, Hepatitis, Anemia, Splenomegaly, Decreased liver func... ORPHA:158061
Cog4-Cdg
Failure to thrive in infancy, Fatal liver failure in infancy, Hypercholesterolemia, Cirrhosis, He... ORPHA:263501
Idiopathic Congenital Hypothyroidism
Delayed proximal femoral epiphyseal ossification, Neonatal hyperbilirubinemia, Macroglossia, Decr... ORPHA:95717
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypothermia, Failure to thrive, Hyperglycinemia, Elevated circulating aspartate aminotransferase ... OMIM:245400
Carnitine Deficiency, Systemic Primary
Decreased carnitine level in liver, Hepatomegaly, Hypoglycemia, Failure to thrive, Cardiomegaly, ... OMIM:212140
Lambert Syndrome
Jaundice, Inguinal hernia, Intrahepatic biliary atresia OMIM:245550
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Fasting hypoglycemia, Hepatic fibrosis, Hepatocellular carcinoma, Elevated circulat... ORPHA:79240
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Weight loss, Lymphoma, Fever, Splenomegaly, Breast carcinoma, B-cell lymphoma ORPHA:86893
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level OMIM:609016
Autoimmune Hepatitis
Spider hemangioma, Inflammation of the large intestine, Hepatocellular carcinoma, Ascites, Sclero... ORPHA:2137
Autoinflammation With Infantile Enterocolitis
Anemia, Splenomegaly, Increased circulating ferritin concentration, Reduced natural killer cell c... OMIM:616050
Galactosemia
Hepatomegaly, Hypergalactosemia, Decreased serum insulin-like growth factor 1, Ascites, Failure t... ORPHA:352
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Microcytic anemia, Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Leukopenia, Increased LDL... OMIM:267700
Congenital Disorder Of Glycosylation, Type Iir
Hepatomegaly, Ascites, Micronodular cirrhosis, Decreased liver function, Hepatic steatosis, Decre... OMIM:301045
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Small for gestational age, Hyperglycemia, Diabetic ketoacidosis, Maturity-onse... ORPHA:99886
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Polyphagia, Umbilical hernia, Insulin-resistant diabetes mellitus at puberty, Reduc... OMIM:269700
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Cachexia, Neoplasm of the central nervous system, Neoplasm of the lung, Ovarian neo... ORPHA:83469
Acquired Generalized Lipodystrophy
Hepatomegaly, Insulin resistance, Unicameral bone cyst, Insulin-resistant diabetes mellitus, Abno... ORPHA:79086
Patent Ductus Venosus
Decreased liver function, Hepatic steatosis, Hypergalactosemia, Hyperammonemia OMIM:601466
Ddost-Cdg
Failure to thrive, Lipodystrophy, Osteopenia, Hepatic steatosis, Primary hypothyroidism, Elevated... ORPHA:300536
Short Chain Acyl-Coa Dehydrogenase Deficiency
Failure to thrive, Hepatic steatosis, Elevated circulating acylcarnitine concentration ORPHA:26792
Retinitis Pigmentosa 59
Failure to thrive, Hepatomegaly, Elevated hepatic transaminase OMIM:613861
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Insulin resistance... ORPHA:79083
Lipodystrophy, Familial Partial, Type 1
Increased facial adipose tissue, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Insu... OMIM:608600
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, H... OMIM:255120
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Lipodystrophy, Po... ORPHA:2348
Primary Sclerosing Cholangitis
Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatitis, Splenomegaly, Hepatosplenomegaly, Uve... ORPHA:171
Systemic Primary Carnitine Deficiency
Elevated hepatic transaminase, Hepatomegaly ORPHA:158
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Diabetes insipidus, Hypoglycemia, Insulin resistance, Failure to thriv... ORPHA:181393
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Hepatocellular necrosis, Elevated circulating creatine kinase concentration, Cardio... OMIM:201475
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Right ventricular hypertrophy, Failure to thrive, Arthrogryposis multiplex ... OMIM:208085
Tyrosinemia Type 1
Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Cholestasis, Progressive Familial Intrahepatic, 5
Hypoglycemia, Ascites, Failure to thrive, Hyperammonemia, Cirrhosis, Elevated circulating asparta... OMIM:617049
Beta-Thalassemia
Hepatomegaly, Abnormality of iron homeostasis, Hypogonadotropic hypogonadism, Hepatitis, Abnormal... ORPHA:848
Immunodeficiency 27A
Leukocytosis, Thrombocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Hypoalbuminemia, Histiocy... OMIM:209950
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin level, Decreased circulating T4 level, Decreased thyroid-stimu... ORPHA:95715
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Eczema, Elevated circulating creatine kinase concent... OMIM:615895
Hyperlipoproteinemia, Type I
Hyperlipidemia, Pancreatitis, Lactescent serum, Splenomegaly, Hypercholesterolemia, Jaundice, Hep... OMIM:238600
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis OMIM:618234
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Galactose Mutarotase Deficiency
Hepatomegaly, Hypergalactosemia, Decreased liver function, Cholestasis, Abnormal enzyme/coenzyme ... ORPHA:570422
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Carcinoid Syndrome
Atypical pulmonary carcinoid tumor, Small intestine carcinoid, Hepatic necrosis, Abnormal B-type ... ORPHA:100093
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Neutropenia, Hypoalbuminemia OMIM:600351
X-Linked Agammaglobulinemia
Sinusitis, Neutropenia, Recurrent cutaneous abscess formation, Chronic otitis media, Failure to t... ORPHA:47
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Elevated circulating creatine kinase concentration OMIM:160570
Caroli Disease
Cholangitis, Esophageal varix, Cholangiocarcinoma, Splenomegaly, Conjugated hyperbilirubinemia, E... ORPHA:53035
Primary Pigmented Nodular Adrenocortical Disease
Adrenal hyperplasia, Hyperlipidemia, Increased circulating cortisol level, Diabetes mellitus, Bru... ORPHA:189439
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Lambert Syndrome
Failure to thrive in infancy, Intrahepatic biliary atresia, Cholestasis, Inguinal hernia, Jaundice ORPHA:1296
Coproporphyria, Hereditary
Hepatomegaly, Cutaneous photosensitivity, Increased fecal coproporphyrin 3, Splenomegaly, Jaundice OMIM:121300
Cystinosis
Polydipsia, Rickets, Hypokalemia, Failure to thrive, Hypophosphatemia, Malabsorption, Nephrogenic... ORPHA:213
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Wolcott-Rallison Syndrome
Central hypothyroidism, Hyponatremia, Hepatomegaly, Neutropenia, Ascites, Iron deficiency anemia,... ORPHA:1667
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Wilson Disease
Hemolytic anemia, Hepatomegaly, Dysphagia, Hypoparathyroidism, High nonceruloplasmin-bound serum ... OMIM:277900
Hemochromatosis, Type 2B
Increased serum iron, Hepatomegaly, Hepatic fibrosis, Elevated transferrin saturation, Splenomega... OMIM:613313
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Fulminant hepatic failure, Hepatic necrosis, Decreased 3-hydroxyacyl-CoA dehyd... OMIM:231530
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Failure to thrive, Hyperalaninemia, Elevated gamma-glutamyltransferase level, Hepat... OMIM:614582
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Elevated circulating alkaline phosphatase concentration, Ascites, Increased total bilirubin, Poly... OMIM:174050
Mandibuloacral Dysplasia
High palate, Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Insulin-resistant ... ORPHA:2457
Inflammatory Pseudotumor Of The Liver
Weight loss, Abnormal liver sonography, Neoplasm of the liver, Fever, Cirrhosis, Elevated circula... ORPHA:90003
Dubin-Johnson Syndrome
Hepatomegaly, Abnormal gastric mucosa morphology, Abnormality of the liver, Conjugated hyperbilir... ORPHA:234
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Hepatomegaly, Small for gestational age, Hypothermia, Elevated circulating creat... ORPHA:26793
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Duodenal atresia, Acholic stools, Annular pancreas, Hyperglycemia, Malabso... OMIM:615710
Platelet-Activating Factor Acetylhydrolase Deficiency
Increased level of platelet-activating factor, Platelet-activating factor acetylhydrolase deficiency OMIM:614278
Familial Chylomicronemia Syndrome
Hyperlipidemia, Failure to thrive, Recurrent pancreatitis, Jaundice, Hepatic steatosis, Hepatospl... ORPHA:444490
Secondary Short Bowel Syndrome
Central hypothyroidism, Aganglionic megacolon, Villous atrophy, Abnormality of the small intestin... ORPHA:95427
Familial Thyroid Dyshormonogenesis
Delayed proximal femoral epiphyseal ossification, Congenital hypothyroidism, Goiter, Neonatal hyp... ORPHA:95716
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... ORPHA:103910
Pediatric-Onset Graves Disease
Hepatomegaly, Increased circulating T4 level, Episcleritis, Polydipsia, Goiter, Polyphagia, Puber... ORPHA:525731
Harderoporphyria
Hepatomegaly, Cutaneous photosensitivity, Neonatal hyperbilirubinemia, Splenomegaly, Increased ci... OMIM:618892
Chylomicron Retention Disease
Failure to thrive, Hypocholesterolemia, Increased hepatocellular lipid droplets, Hepatic steatosi... ORPHA:71
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Peroxisome Biogenesis Disorder 7A (Zellweger)
Jaundice, Hepatomegaly, High palate, Epiphyseal stippling OMIM:614872
Trichohepatoenteric Syndrome 2
Hepatomegaly, Villous atrophy, Small for gestational age, Failure to thrive, Hepatitis, Decreased... OMIM:614602
Primary Lipodystrophy
Type II diabetes mellitus, Hyperlipidemia, Insulin resistance, Lipodystrophy, Polycystic ovaries,... ORPHA:90970
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly OMIM:615158
Cirrhosis, Familial
Jaundice, Micronodular cirrhosis, Esophageal varix, Increased level of propylene glycol in blood OMIM:215600
Leishmaniasis
Leukopenia, Anemia, Splenomegaly, Abnormal macrophage morphology, Hypoalbuminemia, Pancytopenia, ... ORPHA:507
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Gait disturbance, Mildly elevated creatine kinase, Hyperlipidemia OMIM:604484
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased adipose tissue around the neck, Acroosteolysis of distal phalanges (feet), Splenomegaly... ORPHA:280365
Fanconi-Bickel Syndrome
Hepatomegaly, Hepatocellular carcinoma, Increased hepatic glycogen content, Failure to thrive, Ab... ORPHA:2088
Cholestasis, Progressive Familial Intrahepatic, 6
Periportal fibrosis, Failure to thrive, Elevated gamma-glutamyltransferase level, Conjugated hype... OMIM:619484
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Macronodular adrenal hyperplasia, Abnormal response to corticotropin releasing hormone stimulatio... ORPHA:189427
Progressive Nodular Histiocytosis
Cachexia, Fever ORPHA:158022
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, Pancyto... OMIM:618398
Classic Galactosemia
Hepatomegaly, Hypoglycemia, Decreased serum insulin-like growth factor 1, Ascites, Osteoporosis, ... ORPHA:79239
Gilbert Syndrome
Unconjugated hyperbilirubinemia, Jaundice OMIM:143500
Pulmonary Blastoma
Weight loss, Fever, Pleuropulmonary blastoma ORPHA:64741
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Unconj... ORPHA:766
Benign Recurrent Intrahepatic Cholestasis
Acholic stools, Hepatocellular carcinoma, Weight loss, Pancreatitis, Cholelithiasis, Cholestatic ... ORPHA:65682
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Otitis media OMIM:608971
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Hodgkin Lymphoma
Hepatomegaly, Weight loss, Neoplasm, Fever, Splenomegaly, Lymphoma ORPHA:98293
Peroxisome Biogenesis Disorder 10A (Zellweger)
Hepatomegaly OMIM:614882
Budd-Chiari Syndrome
Hepatomegaly, Gastrointestinal infarctions, Esophageal varix, Ascites, Peritonitis, Weight loss, ... ORPHA:131
Familial Hemophagocytic Lymphohistiocytosis
Neutropenia, Petechiae, Lymphadenopathy, Splenomegaly, Increased circulating ferritin concentrati... ORPHA:540
Congenital Toxoplasmosis
Hepatomegaly, Failure to thrive in infancy, Ascites, Lymphadenopathy, Cardiomegaly, Anemia, Eleva... ORPHA:858
Primary Biliary Cholangitis
Abnormality of the intrahepatic bile duct, Hepatic fibrosis, Celiac disease, Hepatocellular carci... ORPHA:186
Gallbladder Disease 1
Cholangitis, Hepatic fibrosis, Cholelithiasis, Pancreatitis, Cholesterol gallstones, Cholecystiti... OMIM:600803
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Pancreatitis, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbili... OMIM:243300
Mody
Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperg... ORPHA:552
Dysbetalipoproteinemia
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, H... ORPHA:412
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly ORPHA:46532
Vipoma
Increased circulating cortisol level, Normochromic anemia, Primary hyperparathyroidism, Diabetes ... ORPHA:97282
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hepatic necrosis, Abnormal circulating acetylcar... ORPHA:71212
Combined Oxidative Phosphorylation Deficiency 37
Hypothermia, Failure to thrive, Bile duct proliferation, Hyperalaninemia, Macrovesicular hepatic ... OMIM:618329
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Giant cell hepatitis, Cholelithiasis, Jaundice OMIM:214980
Primary Myelofibrosis
Hepatomegaly, Cachexia, Hemangioma, Fever, Splenomegaly, Hepatosplenomegaly, Increased circulatin... ORPHA:824
Congenital Isolated Acth Deficiency
Hyponatremia, Hepatitis, Neonatal hypoglycemia, Adrenal hypoplasia, Adrenocorticotropin deficient... ORPHA:199296
Nephrotic Syndrome, Type 14
Ataxia, Lymphopenia, Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia, Hypoalbumin... ORPHA:567548
Congenital Disorder Of Glycosylation, Type Ii
Hepatomegaly OMIM:607906
Adult-Onset Still Disease
Myocarditis, Hepatomegaly, Leukocytosis, Pericarditis, Abnormal circulating lipid concentration, ... ORPHA:829
Autosomal Agammaglobulinemia
Sinusitis, High palate, Neutropenia, Bronchiectasis, Chronic otitis media, Failure to thrive, Hep... ORPHA:33110
Caroli Syndrome
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Esophageal varix, Mel... ORPHA:480520
Peroxisomal Acyl-Coa Oxidase Deficiency
Diffuse hepatic steatosis, Hepatomegaly, Dysphagia, Elevated hepatic transaminase OMIM:264470
Refractory Celiac Disease
Hypoproteinemia, Hypoalbuminemia, Macrocytic anemia, Normocytic anemia, Iron deficiency anemia, H... ORPHA:398063
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cachexia, Weight loss, Hyperalaninemia, Cirrhosis, Macrovesicular hepatic steatosis, Elevated hep... ORPHA:298
Bilateral Striopallidodentate Calcinosis
Abnormality of the liver, Hepatomegaly ORPHA:1980
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Whipple Disease
Myocarditis, Hyponatremia, Hepatomegaly, Cachexia, Pericarditis, Infectious encephalitis, Polydip... ORPHA:3452
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Cleft palate, Hypoglycemia, Decreased serum insulin-like growth factor 1, Increased... OMIM:614921
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Leukemia, Splenomegaly, Acute myeloid leukemia, Refractory anemia with ringed sider... OMIM:133180
Infantile Liver Failure Syndrome 1
Hepatomegaly, Failure to thrive, Hepatic steatosis, Acute hepatic failure, Elevated hepatic trans... OMIM:615438
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Sickle Cell Anemia
Abnormality of the spleen, Leukocytosis, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... ORPHA:232
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Hepatomegaly, Recurrent fever, Failure to thrive, Increased total ... OMIM:603553
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Malabsorption, Splenomegaly, Cirrhosis, E... OMIM:602347
Xfe Progeroid Syndrome
Elevated hepatic transaminase, Cachexia, Ascites OMIM:610965
Zollinger-Ellison Syndrome
Duodenal ulcer, Increased circulating cortisol level, Gastrointestinal hemorrhage, Pituitary cort... ORPHA:913
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated circulating long chain fatty acid concentration, Cholelithiasis, Abnormal cortical bone ... OMIM:614886
Somatostatinoma
Increased circulating cortisol level, Neoplasm of the small intestine, Primary hyperparathyroidis... ORPHA:97283
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Hyponatremia, Cachexia, Microvesicular hepatic steatosis, Hepatic fibrosis, Ascites... ORPHA:275761
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Hyperbilirubinemia, Splen... OMIM:616689
Eosinophilic Gastroenteritis
Leukocytosis, Anemia, Steatorrhea, Hypoalbuminemia, Eosinophilia, Elevated circulating C-reactive... ORPHA:2070
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Alstrom Syndrome
Hepatomegaly, Chronic active hepatitis, Decreased HDL cholesterol concentration, Tubulointerstiti... OMIM:203800
Congenital Bile Acid Synthesis Defect Type 4
Giant cell hepatitis, Type II diabetes mellitus, Elevated circulating creatine kinase concentrati... ORPHA:79095
Hardikar Syndrome
Cholangitis, Decreased serum insulin-like growth factor 1, Esophageal varix, Intrahepatic bile du... OMIM:301068
Intrahepatic Cholestasis Of Pregnancy
Ascites, Small for gestational age, Hyperbilirubinemia, Abnormality of the pancreas, Increased se... ORPHA:69665
Griscelli Syndrome
Pyloric stenosis, Hepatomegaly, Ascites, Leukopenia, Abnormal circulating lipid concentration, Ly... ORPHA:381
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Abnormal intestine morphology, Eczema, Tubulointerstitial nephritis, ... ORPHA:37042
Griscelli Syndrome Type 2
Hepatomegaly, Neutropenia, Hyperlipidemia, Petechiae, Lymphadenopathy, Splenomegaly, Pancytopenia... ORPHA:79477
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Decreased plasma free carnitine, Hypoketotic hypoglycemia, Reduced carnitine O-palm... ORPHA:228305
Multicentric Reticulohistiocytosis
Cachexia, Fever ORPHA:139436
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Cholelithiasis, Conjugated hyperbilirubinemia, Elevated circulating alkaline phosph... OMIM:605479
Glycogen Storage Disease Iii
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Elevated circulating creatine kinase concentratio... OMIM:232400
Isolated Sedoheptulokinase Deficiency
Hypochromic microcytic anemia, Hepatitis, Anemia, Arthrogryposis multiplex congenita, Cholestatic... ORPHA:440713
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Hepatitis, Cholelithiasis, Splenomegaly, Increased circulating ferritin concentrati... OMIM:194380
Congenital Disorder Of Glycosylation, Type Ih
Thrombocytopenia, Anemia, Hypoalbuminemia OMIM:608104
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin ORPHA:86816
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Congenital hypothyroidism, Pancreatic hypoplasia, Hepatic fibrosis, Splenic cyst, P... OMIM:610199
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatic steatosis, Abnormal circulating creatine kinase concentrat... ORPHA:369840
Thyroid Hemiagenesis
Macroglossia, Umbilical hernia, Thyroid agenesis, Jaundice ORPHA:95719
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Cardi... OMIM:600649
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Recurrent fever, Failure to thrive, Splenomegaly, Hypertriglyceridemia, Elevated he... OMIM:617591
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Elevated circulating sitosterol concentration, Splenom... OMIM:210250
Cyanosis, Transient Neonatal
Hepatomegaly, Methemoglobinemia, Anemia, Cyanosis, Reticulocytosis, Jaundice OMIM:613977
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Weight loss, Abnormality of the peritoneum, Neoplasm of the liver, Recurrent hypogl... ORPHA:2126
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cholangitis, Abnormal intestine morphology, Failure to thrive in infancy, Pancytopenia, Neutropen... ORPHA:228426
Cronkhite-Canada Syndrome
Hepatomegaly, Cachexia, Stomach cancer, Gastrointestinal carcinoma, Neoplasm, Splenomegaly, Intes... ORPHA:2930
Peroxisome Biogenesis Disorder 13A (Zellweger)
Hepatomegaly, Cholestasis, Jaundice OMIM:614887
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Hepatic calcification, Decreased plasma free carnitine, High palate, Elevated circu... OMIM:608836
Congenital Disorder Of Glycosylation, Type Iih
Elevated circulating creatine kinase concentration, Elevated circulating aspartate aminotransfera... OMIM:611182
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Elevated circulating creatine kinase concentration, Failure to thrive, Osteoporosis... OMIM:614727
Dominant Beta-Thalassemia
Adrenal insufficiency, Splenomegaly, Hepatosplenomegaly, Hypersplenism, Diabetes mellitus, Decrea... ORPHA:231226
Hepatocellular Carcinoma
Hypoglycemia, Esophageal varix, Hemobilia, Abnormality of the hepatic vasculature, Portal hyperte... ORPHA:88673
Cholestasis, Intrahepatic, Of Pregnancy, 1
Abnormal liver function tests during pregnancy, Elevated hepatic transaminase, Increased serum bi... OMIM:147480
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Hypothermia, Elevated creatine kinase after exercise, Elevated circulating acylcarn... ORPHA:159
Late-Onset Isolated Acth Deficiency
Hypoglycemia, Hepatitis, Type I diabetes mellitus, Adrenocorticotropin deficient adrenal insuffic... ORPHA:199299
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Abnormal dental enamel morphology, Scarring alopecia of scalp, Splenomegaly, Choles... ORPHA:59303
Hemochromatosis Type 4
Congenital hepatic fibrosis, Increased circulating ferritin concentration, Cirrhosis, Hepatic ste... ORPHA:139491
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Hepatic steatosis, Cyanosis, Impaired gluconeog... OMIM:261680
Ppoma
Increased circulating cortisol level, Neoplasm of the small intestine, Intestinal carcinoid, Prim... ORPHA:97278
Babesiosis
Hepatomegaly, Leukopenia, Splenomegaly, Hepatic failure, Limitation of joint mobility, Thrombocyt... ORPHA:108
Lcat Deficiency
Hemolytic anemia, Decreased circulating apolipoprotein AI concentration, Decreased HDL cholestero... ORPHA:650
Isolated Thyroid-Stimulating Hormone Deficiency
Macroorchidism, Delayed proximal femoral epiphyseal ossification, Goiter, Neonatal hyperbilirubin... ORPHA:90674
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Nonsphe... OMIM:235700
Immunodeficiency 56
Cholangitis, Bronchiectasis, Recurrent otitis media, Cirrhosis, Recurrent pneumonia, Hepatic fail... OMIM:615207
Fumarase Deficiency
High palate, Polycythemia, Failure to thrive, Reduced subcutaneous adipose tissue, Hyperbilirubin... OMIM:606812
Insulinoma
Neuroendocrine neoplasm, Zollinger-Ellison syndrome, Neoplasm of the adrenal gland, Polyphagia, H... ORPHA:97279
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Ascites, Osteopetrosis, Anemia, Hyperbilirubinemia, Decreased osteoclast count, Spl... OMIM:259720
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Macroglossia, Umbilical hernia, Hypothyroidism, Jaundice ORPHA:2349
Hemoglobin H Disease
Hepatomegaly, Splenomegaly OMIM:613978
Bile Acid Malabsorption, Primary, 2
Decreased circulating chenodeoxycholic acid concentration, Elevated gamma-glutamyltransferase lev... OMIM:619481
Diencephalic Syndrome
Neoplasm of the nervous system, Cachexia, Decreased body weight ORPHA:1672
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Hyperammonemia, Hepatic steatosis, Acute hepatic failure, Cholestasis... OMIM:618641
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoglycemia, Unconjugated hyperbilirubinemia, Esophageal varix, Rickets, Slender build, Reduced ... OMIM:613658
Glucagonoma
Stomatitis, Increased circulating cortisol level, Normochromic anemia, Primary hyperparathyroidis... ORPHA:97280
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Elevated hepatic transaminase, Biliary cirrho... OMIM:617394
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Villous atrophy, Ileoileal intussusception, Hypokalemia, Portal... OMIM:619377
Acth Deficiency, Isolated
Fasting hypoglycemia, Jaundice, Adrenal hypoplasia, Cholestasis, Adrenocorticotropic hormone defi... OMIM:201400
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Abnormality of the intrahepatic bile duct, Inflammation of the large intestine, Interface hepatit... ORPHA:562639
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Neonatal hyperbilirubinemia, Hyperuricemia, Neo... ORPHA:348
Lysinuric Protein Intolerance
Tubulointerstitial nephritis, Decreased response to growth hormone stimulation test, Hyperglycine... ORPHA:470
Abetalipoproteinemia
Hypotriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Hepatic fibrosis, Oste... ORPHA:14
Lipoyltransferase 1 Deficiency
Decreased liver function, Increased total bilirubin, Elevated hepatic transaminase OMIM:616299
Hereditary Spherocytosis
Hepatomegaly, Gout, Hyperbilirubinemia, Cholelithiasis, Splenomegaly, Anemia, Maculopapular exant... ORPHA:822
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Abnormality of the pancreas ORPHA:3032
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczema, Eosinophilia, Villous atrophy, Erythroderma, Neutropenia, Lymphadenopathy, Coombs-positiv... OMIM:304790
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Hypoglycemia, Hyperlipidemia, Increased hepatic glycogen con... ORPHA:79259
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hepatitis ORPHA:363523
Mccune-Albright Syndrome
Increased serum testosterone level, Goiter, Fibrous dysplasia of the bones, Increased circulating... ORPHA:562
Type 1 Diabetes Mellitus
Decreased level of 1,5 anhydroglucitol in serum, Polyphagia, Polydipsia, Hyperglycemia, Diabetes ... OMIM:222100
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Myeloproliferative disorder, Splenomegaly OMIM:607685
Congenital Rubella Syndrome
Hepatomegaly, Anemia, Splenomegaly, Type I diabetes mellitus, Skin rash, Thrombocytopenia, Jaundice ORPHA:290
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Lymphangiectasis, Villous atrophy, Hepatic fibrosis, Failure to thrive, Hyperinsuli... OMIM:602579
Progeria-Short Stature-Pigmented Nevi Syndrome
Lack of facial subcutaneous fat, Small for gestational age, Elevated hepatic transaminase, Insuli... ORPHA:2959
Glycogen Storage Disease Vii
Gout, Cholelithiasis, Increased total bilirubin, Hyperuricemia, Reticulocytosis, Reduced erythroc... OMIM:232800
Cholestasis, Intrahepatic, Of Pregnancy 3
Intrahepatic cholestasis, Increased serum bile acid concentration during pregnancy, Abnormal live... OMIM:614972
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Large for gestational age ORPHA:2432
Beta-Thalassemia Major
Adrenal insufficiency, Anisopoikilocytosis, Splenomegaly, Hepatosplenomegaly, Hypersplenism, Diab... ORPHA:231214
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Splenomegaly OMIM:606445
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Failure to thrive in infancy, Hepatitis, Splenomegaly, Hypersplenism, Gastroesophag... OMIM:613385
Abdominal Obesity-Metabolic Syndrome 4
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:618620
Familial Pancreatic Carcinoma
Intestinal pseudo-obstruction, Functional intestinal obstruction, Peritoneal abscess, Lymphadenop... ORPHA:1333
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Thrombocytosis, Hepatic fibrosis, Hypergonadotropic hypogonadism, Hypocholesterolem... OMIM:212065
Grfoma
Neoplasm of the thymus, Increased circulating cortisol level, Neoplasm of the small intestine, In... ORPHA:97261
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Prolonged neonatal jaundice, Hypothermia, Large for gestational age ORPHA:226313
Immunodeficiency 47
Hepatomegaly, Hepatic fibrosis, Elevated hepatic transaminase, Failure to thrive, Splenomegaly, H... OMIM:300972
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Failure to thrive, Hepatomegaly, Splenomegaly OMIM:618495
Reynolds Syndrome
Keratoconjunctivitis sicca, Hepatomegaly, Dysphagia, Infectious encephalitis, Abnormal gastric mu... ORPHA:779
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Weight loss, Cachexia OMIM:612075
Anemia, Congenital Dyserythropoietic, Type Ii
Reduced level of N-acetylglucosaminyltransferase II, Cholelithiasis, Splenomegaly, Reticulocytosi... OMIM:224100
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Hypothermia, Lipid accumulation in hepatocytes, Weight loss, Fever, Hyperuricemia, ... ORPHA:20
Glycerol Kinase Deficiency
Hypertriglyceridemia, Small for gestational age OMIM:307030
Senior-Boichis Syndrome
Malformation of the hepatic ductal plate, Esophageal varix, Polydipsia, Hepatic fibrosis, Congeni... ORPHA:84081
Hypermanganesemia With Dystonia 1
Hepatomegaly, Unconjugated hyperbilirubinemia, Polycythemia, Hypermanganesemia, Cirrhosis, Decrea... OMIM:613280
Spherocytosis, Type 1
Hemolytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosi... OMIM:182900
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Microvesicular hepatic steatosis, Hepatomegaly, High palate, Hypoglycemia, Failure to thrive in i... OMIM:619418
Reynolds Syndrome
Hepatomegaly, Calcinosis, Hyperbilirubinemia, Splenomegaly, Gastrointestinal hemorrhage, Steatorr... OMIM:613471
Congenital Enterovirus Infection
Fetal ascites, Hypothermia, Hepatitis, Fever, Hyperammonemia, Cholestasis, Hepatic failure, Hypoa... ORPHA:292
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
High palate, Maturity-onset diabetes of the young, Recurrent otitis media, Joint hypermobility, H... ORPHA:254531
Hereditary Elliptocytosis
Congenital hemolytic anemia, Neonatal hyperbilirubinemia, Stomatocytosis, Cholelithiasis, Hyperbi... ORPHA:288
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Stomatocytosis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Hemolytic anemia... OMIM:185000
Refractory Anemia With Excess Blasts
Leukocytosis, Abnormal mean corpuscular volume, Abnormal circulating albumin concentration, Acute... ORPHA:86839
Primary Erythromelalgia
Leukemia, Hypothermia ORPHA:90026
Morgagni-Stewart-Morel Syndrome
Osteoporosis, Abnormality of the endocrine system, Acne, Hyperuricemia, Hypercholesterolemia, Hyp... ORPHA:77296
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Elevated circulating creatine kinase concentration, Hypothermia, Cholelithiasis, Small for gestat... OMIM:618775
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulo... OMIM:615631
Hypothyroidism Due To Tsh Receptor Mutations
Impaired sensitivity to thyroid stimulating hormone, Increased circulating thyroglobulin level, D... ORPHA:90673
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic fibrosis, Hepatic failure, Splenomegaly OMIM:616719
Obesity Due To Congenital Leptin Deficiency
Polyphagia, Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovar... ORPHA:66628
Mu-Heavy Chain Disease
Hepatomegaly, Weight loss, Fever, Splenomegaly ORPHA:100024
Rhabdoid Tumor
Hypercalcemia, Neoplasm of the central nervous system, Weight loss, Fever, Neoplasm of the liver,... ORPHA:69077
Saccharopinuria
Hypercystinemia, Abnormality of circulating enzyme level, Hyperammonemia, Tremor, Elevated plasma... ORPHA:3124
Hyperparathyroidism, Neonatal Severe
Elevated circulating parathyroid hormone level, Hypercalcemia, Hepatomegaly, Calcinosis, Polydips... OMIM:239200
Hemochromatosis Type 2
Abnormality of endocrine pancreas physiology, Abnormality of iron homeostasis, Congenital hepatic... ORPHA:79230
Infantile Liver Failure Syndrome 2
Hypoglycemia, Hyperammonemia, Acute hepatic failure, Elevated hepatic transaminase, Jaundice OMIM:616483
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Dysphagia, Failure to thrive, Decreased liver function, Hepatic steatosis, Abnormal enzyme/coenzy... ORPHA:70472
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Pyloric stenosis, Cleft palate, High palate, Small for gestational age, Maturity-onset diabetes o... ORPHA:96184
Permanent Congenital Hypothyroidism
Hypothermia, Jaundice ORPHA:226292
Obesity Due To Leptin Receptor Gene Deficiency
Polyphagia, Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovar... ORPHA:179494
Combined Oxidative Phosphorylation Deficiency 12
Failure to thrive, Hepatomegaly, Cholestasis, Macrovesicular hepatic steatosis OMIM:614924
Mast Cell Sarcoma