Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
sterol carrier protein 2, liver
Synonyms:
NSL-TP,  SCPx,  nonspecific lipid transfer protein,  SCP-2,  ns-LTP

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.

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 Scp2 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 Scp2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Leukoencephalopathy With Dystonia And Motor Neuropathy
Elevated circulating pristanic acid concentration OMIM:613724

The table below shows human diseases predicted to be associated to Scp2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Increased hepatic glycog... OMIM:232700
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Hypoalphalipoproteinemia, Primary, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:604091
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly, Hypertriglyceridemia OMIM:619175
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Portal fibrosis, Failure to thrive, In... OMIM:619868
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Fish-Eye Disease
Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ... OMIM:136120
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl... OMIM:614480
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ... OMIM:616829
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Hepatic steatosis, Hypertriglyceridemia, Hypercholestero... OMIM:615703
Cholesteryl Ester Storage Disease
Hepatic failure, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegal... ORPHA:75234
Lipodystrophy, Congenital Generalized, Type 3
Generalized lipodystrophy, Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hypocalcemia, Red... OMIM:612526
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypermethioninemia OMIM:606664
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hyperactivity, Hypertriglyceridemia OMIM:615924
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Glycogen Storage Disease Ixa1
Elevated circulating hepatic transaminase concentration, Splenomegaly, Hyperuricemia, Hypercholes... OMIM:306000
Lipase Deficiency, Combined
Pancreatitis, Hypertriglyceridemia OMIM:246650
Hypothyroidism, Congenital, Nongoitrous, 8
Attention deficit hyperactivity disorder, Hypercholesterolemia OMIM:301033
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Hypertriglyceridemia ORPHA:436182
Hypertriglyceridemia 1
Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:145750
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Hypertriglyceridemia OMIM:608898
Obesity Due To Melanocortin 4 Receptor Deficiency
Polyphagia, Hypertriglyceridemia ORPHA:71529
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:614025
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Hypertriglyceridemia OMIM:610947
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Elevated circulating aspartate aminotransferase con... OMIM:619874
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:607765
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Hepatitis, Increased circulating ferritin conc... OMIM:300635
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Failure to thriv... OMIM:613812
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
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype... OMIM:616516
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Splenomegaly, Pancreatitis, Hypercholesterolemia... OMIM:207750
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Hyp... OMIM:603471
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Acute hepatic failure, Hepat... OMIM:278000
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Splenomegaly, Hypertriglyceridemia, Decreased HDL choles... OMIM:607616
Hepatocellular Carcinoma
Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma OMIM:114550
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Cholestasi... OMIM:619662
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure, Hypertriglyceridemia OMIM:177000
Body Mass Index Quantitative Trait Locus 19
Polyphagia, Hyperlipidemia, Hypertriglyceridemia OMIM:617885
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:245900
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Splenomegaly, Neonatal c... OMIM:214900
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia, Hepatomegaly, J... OMIM:603552
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Hepatic... ORPHA:209902
Hepatitis Delta
Hepatic failure, Hepatitis, Elevated circulating aspartate aminotransferase concentration, Cirrho... ORPHA:402823
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis OMIM:613783
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... ORPHA:69663
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypocholesterolemia, Elevated circulating aspartate amin... OMIM:615558
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia ORPHA:140905
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hepatic steatosis, Hypertriglyceridemia ORPHA:280356
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... ORPHA:139507
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Hyperinsulinemic Hypoglycemia, Familial, 8
Attention deficit hyperactivity disorder, Increased C-peptide level, Hypercholesterolemia, Hypera... OMIM:620211
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... ORPHA:79303
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Hypertriglyceridemia OMIM:613877
Citrullinemia Type Ii
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decre... ORPHA:247585
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen... OMIM:613027
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Hypertriglyceridemia OMIM:620282
Lipodystrophy, Familial Partial, Type 1
Increased subcutaneous truncal adipose tissue, Increased adipose tissue around the neck, Increase... OMIM:608600
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid... OMIM:238600
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Galactosemia Iv
Hepatomegaly, Prolonged neonatal jaundice, Hypergalactosemia OMIM:618881
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Increased C-peptide level, Hepatic steatosis, Hypertriglyceridemia OMIM:615238
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:613101
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Galactokinase Deficiency
Small for gestational age, Failure to thrive, Hepatosplenomegaly, Abnormal circulating enzyme con... ORPHA:79237
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
Alpha-1-Antitrypsin Deficiency
Hepatic failure, Reduced circulating alpha-1-antitrypsin concentration, Hepatitis, Cholestasis, C... ORPHA:60
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... OMIM:616000
Multiple Symmetric Lipomatosis
Hepatomegaly, Multiple lipomas, Abnormal adipose tissue morphology ORPHA:2398
Cog4-Cdg
Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Hepatosple... ORPHA:263501
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Bile Acid Synthesis Defect, Congenital, 4
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:214950
Glycosylphosphatidylinositol Biosynthesis Defect 17
Aggressive behavior, Overfriendliness, Hypertriglyceridemia OMIM:618010
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Hep... OMIM:619013
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Failure to thrive, Acute hepa... ORPHA:905
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Portal hypertension, Splenomegaly, Biliary tract abnormality, Neonatal cholestati... ORPHA:1414
Hyperlipoproteinemia, Type Id
Increased circulating chylomicron concentration, Decreased HDL cholesterol concentration, Splenom... OMIM:615947
Macrophage Activation Syndrome
Hypoalbuminemia, Increased circulating lactate dehydrogenase concentration, Hepatitis, Decreased ... ORPHA:158061
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S... OMIM:620010
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Abdominal Obesity-Metabolic Syndrome 4
Elevated hemoglobin A1c, Increased LDL cholesterol concentration, Decreased HDL cholesterol conce... OMIM:618620
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hyper... ORPHA:369
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:235555
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ... OMIM:620454
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, In... ORPHA:247598
Lipodystrophy, Familial Partial, Type 2
Increased adipose tissue around the neck, Decreased HDL cholesterol concentration, Increased faci... OMIM:151660
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatic steatosis, Cirrhosis, Hyperactivity, Hypertriglyceridemia, Hepatomegaly ORPHA:363400
Smith-Magenis Syndrome
Head-banging, Onychotillomania, Self-mutilation, Hypercholesterolemia, Hyperactivity, Hypertrigly... OMIM:182290
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Recurrent otitis media, Splenomegaly, Hepatitis ORPHA:444463
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis, Hypertriglyceridemia ORPHA:79085
Congenital Generalized Lipodystrophy
Failure to thrive, Hepatic steatosis, Adipose tissue loss, Cirrhosis, Hypercholesterolemia, Lipod... ORPHA:528
Galactose Mutarotase Deficiency
Failure to thrive, Decreased liver function, Cholestasis, Abnormal circulating enzyme concentrati... ORPHA:570422
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Glycogen Storage Disease Iii
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Elevat... OMIM:232400
Complement Component 4B Deficiency
Recurrent otitis media, Recurrent pneumonia, Recurrent sinusitis, Chronic active hepatitis OMIM:614379
Immunodeficiency 114, Folate-Responsive
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:620603
Tangier Disease
Decreased HDL cholesterol concentration, Splenomegaly, Elevated circulating apolipoprotein A-II c... OMIM:205400
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Abnormal circulating lipid concentration, Peritonitis, Hypercholesterolemia, Hyp... ORPHA:567548
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormality of the pancreas, Abnormal biliary tract morphology ORPHA:3032
Galactosemia Iii
Failure to thrive, Splenomegaly, Decreased beta-galactosidase activity, Hepatomegaly, Jaundice, H... OMIM:230350
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:615812
Immunodeficiency 104
Pneumonia, Eczematoid dermatitis, Failure to thrive secondary to recurrent infections, Chronic mu... OMIM:608971
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:618398
Lipodystrophy, Familial Partial, Type 3
Hepatic steatosis, Hyperuricemia, Hypertriglyceridemia, Cirrhosis, Decreased HDL cholesterol conc... OMIM:604367
Lcat Deficiency
Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A-I concentration, ... ORPHA:650
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Xanthelasma, Increased LDL cholesterol concentration, He... ORPHA:412
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Pancreatitis, Hepatic steatosis, Hypertriglyceridemia ORPHA:435651
Hepatic Veno-Occlusive Disease
Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Ascites, Incr... ORPHA:890
Congenital Bile Acid Synthesis Defect Type 1
Elevated circulating hepatic transaminase concentration, Failure to thrive, Neonatal cholestatic ... ORPHA:79301
Wolman Disease
Reduced lysosomal acid lipase activity, Failure to thrive, Acute hepatic failure, Splenomegaly, H... OMIM:620151
Congenital Isolated Acth Deficiency
Prolonged neonatal jaundice, Decreased circulating cortisol level, Hyponatremia, Hepatitis ORPHA:199296
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Porphyria Cutanea Tarda
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... ORPHA:101330
Trichohepatoenteric Syndrome 2
Decreased circulating iron concentration, Failure to thrive, Cirrhosis, Chronic hepatitis, Hepato... OMIM:614602
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Elevated circulating ... OMIM:615381
Congenital Disorder Of Glycosylation, Type Iih
Failure to thrive in infancy, Elevated circulating aspartate aminotransferase concentration, Inte... OMIM:611182
Autoimmune Hepatitis
Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Vir... ORPHA:2137
Primary Biliary Cholangitis
Elevated gamma-glutamyltransferase level, Xanthelasma, Elevated circulating alkaline phosphatase ... ORPHA:186
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatic failure, Elevated circulating hepatic transaminase concentration, Increased circulating f... ORPHA:158057
Familial Chylomicronemia Syndrome
Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipidemia, Hepatic stea... ORPHA:444490
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:264580
Immunodeficiency 56
Hepatic failure, Recurrent pneumonia, Failure to thrive, Recurrent otitis media, Recurrent sinusi... OMIM:615207
Autosomal Agammaglobulinemia
Cellulitis, Bronchiectasis, Hepatitis, Failure to thrive, Osteomyelitis, Skin rash, Arthritis, Si... ORPHA:33110
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... OMIM:616278
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Cholestasis, Splenomegaly, Hypocalcemia, Hepatomegaly, Jaundice ORPHA:172
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Large for gestational age ORPHA:2432
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... OMIM:613404
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Failure to thrive ORPHA:67046
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Hepatitis, Fulminant Viral, Susceptibility To
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hashimoto thyroiditis, ... OMIM:618549
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Failure to thrive, Decreased liver function, Acute hepatitis, Hyperornithinemia, Hyperammonemia, ... OMIM:238970
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... OMIM:267700
Obesity Due To Congenital Leptin Deficiency
Polyphagia, Hypertriglyceridemia ORPHA:66628
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level OMIM:609016
Systemic Primary Carnitine Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration ORPHA:158
X-Linked Agammaglobulinemia
Cellulitis, Recurrent pneumonia, Hepatitis, Failure to thrive, Osteomyelitis, Hypocalcemia, Skin ... ORPHA:47
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Elevated circulating creatine kinase concentration, Hepatic steatosis, Hypertriglyc... ORPHA:435660
Graft Versus Host Disease
Pneumonia, Elevated circulating hepatic transaminase concentration, Inflammatory abnormality of t... ORPHA:39812
Obesity Due To Leptin Receptor Gene Deficiency
Polyphagia, Hypertriglyceridemia ORPHA:179494
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Abnormal circulating e... ORPHA:79240
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Weight loss, Splenomegaly ORPHA:79238
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Allergic rhinitis, Failure to thrive, Exocrine pancreatic insufficiency, Splenomegaly, Skin rash,... OMIM:612714
Biliary Atresia, Extrahepatic
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilir... OMIM:210500
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615158
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertension, Inguinal hernia, Steatorr... ORPHA:440713
Beta-Thalassemia
Cholelithiasis, Hepatitis, Splenomegaly, Hepatomegaly, Abnormality of iron homeostasis ORPHA:848
Fetal Cytomegalovirus Syndrome
Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Hepatomegaly, J... ORPHA:294
Lipodystrophy, Familial Partial, Type 6
Hyperlipidemia, Hepatic steatosis, Abnormal circulating lipid concentration, Elevated circulating... OMIM:615980
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Giant cell hepatitis, Elevated gamma-glutamyltransferase level, Elevat... OMIM:208085
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic ... OMIM:602347
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Enamel hypoplasia, Hepatitis ORPHA:363523
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:619313
Mulibrey Nanism
Hepatomegaly, Cachexia ORPHA:2576
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver ORPHA:1980
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated circulating hepatic transaminase concentration, Hyperlipidemia ORPHA:2089
Immunodeficiency 47
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans... OMIM:300972
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Dyspha... ORPHA:64753
Fanconi-Bickel Syndrome
Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Abnormal hepatic ... ORPHA:2088
Hemochromatosis, Type 2B
Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami... OMIM:613313
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Increased subcutaneous truncal adipose tissue, Contr... ORPHA:2457
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice OMIM:614876
Congenital Analbuminemia
Hypoalbuminemia, Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, S... ORPHA:86816
Bile Acid Conjugation Defect 1
Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat... OMIM:619232
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma ORPHA:882
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Failure to thrive, Splenomegaly, Elevated circulating alkaline phosphat... OMIM:601847
Pparg-Related Familial Partial Lipodystrophy
Hepatic steatosis, Splenomegaly, Hyperuricemia, Cirrhosis, Pancreatitis, Hypertriglyceridemia, He... ORPHA:79083
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Hypoalbuminemia, Elevated circulating hepatic transaminase concentrati... ORPHA:540
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypocholesterolemia, Hypersplenism, Splenomegaly OMIM:610539
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Recurrent pneumonia, Hepatitis, Failure to thrive secondary to recurrent infections, H... ORPHA:169160
Adult-Onset Still Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Abnormal circulating lipid co... ORPHA:829
Familial Partial Lipodystrophy, Dunnigan Type
Splenomegaly, Hepatic steatosis, Pancreatitis, Hypertriglyceridemia, Hepatomegaly ORPHA:2348
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Decreased plasm... OMIM:619048
Sandhoff Disease
Hepatomegaly, Splenomegaly, Failure to thrive ORPHA:796
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly ORPHA:46532
Morgagni-Stewart-Morel Syndrome
Obesity, Hyperuricemia, Hypercholesterolemia, Osteoarthritis, Acne ORPHA:77296
Griscelli Syndrome Type 2
Hepatomegaly, Jaundice, Hyperlipidemia, Splenomegaly ORPHA:79477
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Acth Deficiency, Isolated
Cholestasis, Decreased circulating cortisol level, Jaundice OMIM:201400
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent... OMIM:619658
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Jaundice, Hyperbilirubinemia, Splenomegaly OMIM:237800
Laron Syndrome
Osteoarthritis, Hypercholesterolemia, Truncal obesity ORPHA:633
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatitis, Increased circulating ferritin concentration, Splenomegaly, Hepatomega... OMIM:194380
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Increased circulating f... OMIM:603553
Griscelli Syndrome
Hepatitis, Abnormal circulating lipid concentration, Ascites, Splenomegaly, Hepatomegaly, Jaundice ORPHA:381
Primary Sclerosing Cholangitis
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... ORPHA:171
Drug Reaction With Eosinophilia And Systemic Symptoms
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Inters... ORPHA:139402
Werner Syndrome
Elevated circulating aspartate aminotransferase concentration, Elevated hemoglobin A1c, Elevated ... OMIM:277700
Autoimmune Polyendocrine Syndrome, Type Ii
Hepatitis, Chronic mucocutaneous candidiasis, Exocrine pancreatic insufficiency, Keratoconjunctiv... OMIM:269200
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Transient hyperlipidemia, Hepatic failure, Elevated circulating hepatic transaminas... ORPHA:156
Smith-Magenis Syndrome
Self-injurious behavior, Attention deficit hyperactivity disorder, Hypercholesterolemia, Hypertri... ORPHA:819
Neutral Lipid Storage Disease With Ichthyosis
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Abnormal circula... ORPHA:98907
Lysosomal Acid Lipase Deficiency
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:275761
Immunodeficiency With Hyper-Igm, Type 1
Hepatitis, Failure to thrive, Splenomegaly, Sclerosing cholangitis, Enteroviral encephalitis, Cir... OMIM:308230
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
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated circulating hepatic transaminase concentration, Failure to thrive, Splenomegaly, Skin ra... OMIM:617591
Neutral Lipid Storage Disease With Myopathy
Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Hepatic steatosis,... OMIM:610717
Congenital Disorder Of Glycosylation, Type Iik
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Elevated circul... OMIM:614727
Hepatoportal Sclerosis
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circula... ORPHA:64743
Acquired Generalized Lipodystrophy
Abnormal circulating lipid concentration, Hepatic steatosis, Cirrhosis, Hypertriglyceridemia, Hep... ORPHA:79086
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Isolated Polycystic Liver Disease
Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Increased total bilirubin ORPHA:2924
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Failure to thrive, Elevated circulating creatinine concentration, Hepatic steato... OMIM:617872
Wolman Disease
Hepatic failure, Ascites, Splenomegaly, Cachexia, Hepatomegaly, Steatorrhea ORPHA:75233
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,... OMIM:618528
Cholestasis, Benign Recurrent Intrahepatic, 1
Increased serum bile acid concentration, Intermittent jaundice, Pancreatitis, Intrahepatic choles... OMIM:243300
Galactosemia I
Increased level of galactitol in red blood cells, Failure to thrive, Decreased liver function, El... OMIM:230400
Mitochondrial Myopathy, Infantile, Transient
Decreased circulating carnitine concentration, Failure to thrive, Elevated circulating creatine k... OMIM:500009
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatitis, Rec... OMIM:614921
Reni Syndrome
Hypoalbuminemia, Hypertriglyceridemia OMIM:617575
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Recurrent otitis media, Obesity, Hypercholesterolemia, Truncal obesity, Small for gestational age ORPHA:96184
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic failure, Portal fibr... OMIM:617394
Mhc Class Ii Deficiency 1
Chronic mucocutaneous candidiasis, Failure to thrive, Biliary tract abnormality, Infectious encep... OMIM:209920
Isolated Biliary Atresia
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans... ORPHA:30391
Hemoglobin H Disease
Hepatomegaly, Splenomegaly OMIM:613978
Cog7-Cdg
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatosplenomegaly, E... ORPHA:79333
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen... OMIM:617068
Somatostatinoma
Intrahepatic cholestasis, Increased circulating cortisol level, Neoplasm of the pancreas, Intermi... ORPHA:97283
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Hepatitis, Acute hepatic failure, Failure to thrive in infancy, Hepatosplenomegaly, Hypersplenism... ORPHA:228426
Melioidosis
Cellulitis, Pneumonia, Hepatitis, Foot osteomyelitis, Cutaneous abscess, Parotitis, Abnormality o... ORPHA:31202
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Splenomegaly OMIM:606445
Lipodystrophy, Congenital Generalized, Type 4
Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatic steatosis, Elevate... OMIM:613327
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra... ORPHA:79095
Mandibuloacral Dysplasia With Type A Lipodystrophy
Increased adipose tissue around the neck, Increased facial adipose tissue, Elbow flexion contract... OMIM:248370
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Splenomegaly OMIM:619462
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Weight loss, Splenomegaly ORPHA:86893
Gallbladder Disease 1
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... OMIM:600803
Cryoglobulinemic Vasculitis
Abnormality of the liver, Splenomegaly, Keratoconjunctivitis sicca, Arthritis, Hepatomegaly, Vira... ORPHA:91138
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... OMIM:605911
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype... ORPHA:98855
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Hyperammonemia, Failure to thrive ORPHA:28
Seckel Syndrome 10
Elevated circulating aspartate aminotransferase concentration, Hepatic steatosis, Elevated circul... OMIM:617253
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatitis, Failure to thrive in infancy, Hypersplenism, Portal hypertension, Splenomegaly, Hashim... OMIM:613385
Lysinuric Protein Intolerance
Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, Cirrhosis, Glomerul... ORPHA:470
Combined Oxidative Phosphorylation Deficiency 9
Elevated gamma-glutamyltransferase level, Failure to thrive, Elevated circulating aspartate amino... OMIM:614582
Cholestasis, Benign Recurrent Intrahepatic, 2
Intrahepatic cholestasis, Cholelithiasis, Elevated circulating alkaline phosphatase concentration... OMIM:605479
Gaisböck Syndrome
Cholecystitis, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Incre... ORPHA:90041
Legionnaires Disease
Cellulitis, Hepatitis, Splenomegaly, Infectious encephalitis, Hyponatremia, Pancreatitis, Myocard... ORPHA:549
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... OMIM:255120
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Pancreatitis, Hepatic steatosis, Lipoatrophy ORPHA:79084
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Immunodeficiency 48
Pneumonia, Eczematoid dermatitis, Failure to thrive, Splenomegaly, Hepatomegaly OMIM:269840
Microtriplication 11Q24.1
Bruxism, Hyperlipidemia ORPHA:289522
Hemochromatosis, Neonatal
Hepatic fibrosis, Hepatic failure, Increased circulating iron concentration, Hepatocellular necro... OMIM:231100
Q Fever
Pneumonia, Elevated circulating hepatic transaminase concentration, Hepatitis, Osteomyelitis, Hep... ORPHA:781
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Elevated circulating phytanic acid concentration, Hypocholesterolemia, Hepatom... OMIM:266510
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Failure to thrive, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodi... OMIM:211600
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly OMIM:616719
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Cardiomega... OMIM:619064
Neutral Lipid Storage Myopathy
Elevated circulating hepatic transaminase concentration, Abnormal circulating creatine kinase con... ORPHA:98908
X-Linked Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype... ORPHA:98863
Congenital Enterovirus Infection
Hypoalbuminemia, Hepatic failure, Fetal ascites, Hepatitis, Cholestasis, Hyperammonemia, Skin ras... ORPHA:292
Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype... ORPHA:98853
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Crusting erythematous dermatitis, ... ORPHA:37042
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Cholestasis, Decreased circulating cortisol level, Polyphagia, Hyperbilirubinemia OMIM:609734
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Ascites, Hepatomegaly, Weight loss ORPHA:2198
Immunodeficiency 42
Recurrent aphthous stomatitis, Splenomegaly, Recurrent cutaneous fungal infections, Hepatomegaly,... OMIM:616622
Immunodeficiency 97 With Autoinflammation
Hepatosplenomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:619802
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... OMIM:616860
Glycogen Storage Disease Ixb
Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly, Reduced hepatic ph... OMIM:261750
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Umbilical hernia, Cholestasis, Portal hyperte... OMIM:610199
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Hepatic failure, Decreased liver function, Abnormal circulating lipid concentrati... ORPHA:77293
Methanol Poisoning
Addictive alcohol use, Hyperlipidemia ORPHA:31825
Tangier Disease
Hypocholesterolemia, Hepatosplenomegaly, Hypertriglyceridemia ORPHA:31150
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Failure to thrive in infancy, Hepatic steatosis, Pancreatitis, Elevated circulat... OMIM:618805
Dubin-Johnson Syndrome
Abnormality of the liver, Biliary tract abnormality, Hepatomegaly, Jaundice, Conjugated hyperbili... ORPHA:234
Lmna-Related Cardiocutaneous Progeria Syndrome
Abnormal intrahepatic bile duct morphology, Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Sitosterolemia 1
Increased circulating lactate dehydrogenase concentration, Hyperapobetalipoproteinemia, Xanthelas... OMIM:210250
Pfapa Syndrome
Splenomegaly, Infectious encephalitis, Weight loss, Arthritis, Hepatomegaly ORPHA:42642
Avian Influenza
Hypoalbuminemia, Pneumonia, Myelitis, Elevated circulating hepatic transaminase concentration, In... ORPHA:454836
Congenital Disorder Of Glycosylation, Type Iij
Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Sple... OMIM:613489
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Hepa... OMIM:619418
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Pyruvate Dehydrogenase E3 Deficiency
Elevated circulating branched chain amino acid concentration, Hepatic failure, Elevated circulati... ORPHA:2394
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Periodontitis, Failure to thrive, Ulcerative colitis, Xanthe... ORPHA:79259
Budd-Chiari Syndrome
Elevated circulating hepatic transaminase concentration, Ascites, Acute hepatic failure, Portal h... ORPHA:131
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczematoid dermatitis, Hepatitis, Failure to thrive, Erythroderma, Glomerulonephritis, Arthritis OMIM:304790
Xp21 Deletion Syndrome
Elevated circulating creatine kinase concentration, Hypertriglyceridemia ORPHA:261476
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Cellulitis, Pneumonia, Hepatitis, Fasciitis, Elevated circulating creatinine con... ORPHA:36234
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Elevated gamma-glutamyltransferase level, Elevated cir... OMIM:619463
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Failure to thrive, Cirrhosis, Hepatomegaly, S... OMIM:602579
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatitis, Decreased li... ORPHA:415
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... OMIM:600649
Propionic Acidemia
Hepatomegaly, Propionyl-CoA carboxylase deficiency, Hyperammonemia ORPHA:35
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Elevated gamma-glu... ORPHA:53035
Mpi-Cdg
Hypoalbuminemia, Hepatic fibrosis, Failure to thrive, Decreased liver function, Abnormal circulat... ORPHA:79319
Retinitis Pigmentosa 59
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Failure to thrive OMIM:613861
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia OMIM:256300
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Failure to thrive, Enlarged kidney OMIM:615285
Hemochromatosis, Type 2A
Increased circulating iron concentration, Increased circulating ferritin concentration, Splenomeg... OMIM:602390
Congenital Toxoplasmosis
Elevated circulating hepatic transaminase concentration, Ascites, Failure to thrive in infancy, C... ORPHA:858
Hemophagocytic Syndrome Associated With An Infection
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... ORPHA:158048
Lichen Planopilaris
Hepatitis ORPHA:525
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... OMIM:616217
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Hepatomegaly, Abnormality of the liver, Decreased circulating carnitine concentration, Mildly ele... ORPHA:254864
Late-Onset Isolated Acth Deficiency
Hepatitis, Failure to thrive, Hyperuricemia, Hyponatremia, Decreased circulating cortisol level, ... ORPHA:199299
Infantile Liver Failure Syndrome 1
Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute hepatic failure... OMIM:615438
Pediatric Hepatocellular Carcinoma
Hepatic fibrosis, Hepatic necrosis, Portal vein thrombosis, Hepatomegaly, Elevated circulating al... ORPHA:33402
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Hepatic steatosis, Cirrhosis, Osteoarthritis, Hepat... OMIM:606069
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Cholestasis, Abnormal dental enamel morphology, Portal hypertension, Splenomegaly, Scarring alope... ORPHA:59303
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice OMIM:613977
Aspergillosis
Pneumonia, Keratitis, Hepatitis, Osteomyelitis, Infectious encephalitis, Sinusitis, Bronchiectasis ORPHA:1163
Hyperbiliverdinemia
Cholestasis, Elevated circulating biliverdin concentration, Cholelithiasis, Decreased liver function OMIM:614156
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Decreased liver function, Abnormal circu... ORPHA:42
Lipodystrophy, Congenital Generalized, Type 1
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Splenomegaly, Polypha... OMIM:608594
Gaucher Disease Type 2
Hepatomegaly, Flexion contracture, Splenomegaly ORPHA:77260
Mu-Heavy Chain Disease
Hepatomegaly, Weight loss, Splenomegaly ORPHA:100024
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia OMIM:618183
Alpha-Heavy Chain Disease
Ascites, Hepatomegaly, Splenomegaly, Hypocalcemia ORPHA:100025
Alstrom Syndrome
Nephritis, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Decrease... OMIM:203800
Mast Cell Sarcoma
Hepatomegaly, Weight loss, Splenomegaly ORPHA:66661
Dominant Beta-Thalassemia
Hepatic fibrosis, Abnormality of iron homeostasis, Failure to thrive in infancy, Hepatosplenomega... ORPHA:231226
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis, Failure to thrive OMIM:618234
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Failure to thrive, Umbilical hernia, Abnormal circulating thyroglobu... ORPHA:90674
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Failur... ORPHA:367
Immunodeficiency By Defective Expression Of Mhc Class Ii
Failure to thrive, Chronic mucocutaneous candidiasis, Skin rash, Sclerosing cholangitis, Decrease... ORPHA:572
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly OMIM:607685
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Bardet-Biedl Syndrome 20
Obesity, Elevated circulating hepatic transaminase concentration, Pancreatitis, Hypercholesterolemia OMIM:619471
Lipodystrophy, Congenital Generalized, Type 2
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Splenomegaly, Polypha... OMIM:269700
Carnitine Deficiency, Systemic Primary
Decreased circulating carnitine concentration, Failure to thrive, Elevated circulating aspartate ... OMIM:212140
Mucopolysaccharidosis Type 7
Hepatitis, Umbilical hernia, Ascites, Splenomegaly, Inguinal hernia ORPHA:584
Amyloidosis, Hereditary Systemic 2
Cholestasis, Hepatomegaly, Skin rash, Splenomegaly OMIM:105200
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Cholecystitis, Jaundice OMIM:235700
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E... OMIM:251880
Cirrhosis, Familial
Biliary cirrhosis, Micronodular cirrhosis, Ascites, Increased level of propylene glycol in blood,... OMIM:215600
Microsporidiosis
Lymphadenitis, Abnormality of the spleen, Keratoconjunctivitis, Cachexia, Weight loss, Prostatiti... ORPHA:2552
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... OMIM:618641
Acquired Aneurysmal Subarachnoid Hemorrhage
Addictive alcohol use, Hypercholesterolemia ORPHA:90065
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Failure to thrive, Ascites, Hypocholesterolemia, Splenomegaly, Lipodystrophy, He... OMIM:608776
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Splenomegaly, Hepatic steatosis, Pancreatitis, Hypertrig... ORPHA:280365
Cardiomyopathy, Familial Restrictive, 6
Ascites, Hepatomegaly, Portal vein hypoplasia, Hepatic artery hyperplasia OMIM:619433
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Unconjugated hyperbilirubinemia, Splenomegaly, Cholecystitis, Reduced haptoglobin... OMIM:266200
Congenital Bile Acid Synthesis Defect Type 3
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... ORPHA:79302
Activated Pi3K-Delta Syndrome
Pneumonia, Failure to thrive, Recurrent otitis media, Splenomegaly, Chronic sinusitis, Arthritis,... ORPHA:397596
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Recurrent pneumonia, Failure to thrive, Skin rash, Hepatomegaly, Chronic oral candidiasis OMIM:300400
Prader-Willi Syndrome
Self-injurious behavior, Hypertriglyceridemia, Polyphagia, Attention deficit hyperactivity disord... OMIM:176270
Alagille Syndrome 1
Hepatic failure, Elevated circulating hepatic transaminase concentration, Cholestasis, Exocrine p... OMIM:118450
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Megalocornea-Intellectual Disability Syndrome
Motor stereotypy, Hypercholesterolemia ORPHA:2479
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Hepatomegaly, Erysipelas, Joint contracture, Elevated circulating creatine kinase concentration OMIM:615704
Gaucher Disease, Type Iii
Hepatomegaly, Decreased beta-glucocerebrosidase level, Splenomegaly, Decreased body weight OMIM:231000
Wilson Disease
Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Elevated c... OMIM:277900
Microcephaly, Amish Type
Hepatomegaly, Flexion contracture, Failure to thrive OMIM:607196
B4Galt1-Cdg
Elevated circulating hepatic transaminase concentration, Inflammatory abnormality of the skin, Ab... ORPHA:79332
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly OMIM:133180
Klatskin Tumor
Weight loss, Cholangiocarcinoma, Hepatomegaly, Jaundice, Extrahepatic cholestasis ORPHA:99978
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Pneumonia, Recurrent pneumonia, Rheumatoid arthritis, Bronchiectasis, Atopic d... ORPHA:183675
Mccune-Albright Syndrome
Increased circulating cortisol level, Hepatitis, Cholestasis, Primary hypercortisolism, Hypophosp... ORPHA:562
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Minimal change glomerulonephritis, Hepatitis, Eczematoid dermatitis, Splenomegaly, Myositis, Elev... OMIM:620565
Harderoporphyria
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Splenomegaly, Hepatome... OMIM:618892
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatomegaly, Hepatic cysts OMIM:617004
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Failure to thrive, Recurrent otitis media, Splenomegaly, Lymphocytic interstitial pneumonia, Hepa... OMIM:618495
Neuhauser Syndrome
Hypercholesterolemia, Dysphagia OMIM:249310
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly OMIM:603902
Immunodeficiency 87 And Autoimmunity
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... OMIM:619573
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Hepatic failure, Splenomegaly, Infectious encephalitis, Elevated circulating C-r... OMIM:308240
Cystic Echinococcosis
Cholestatic liver disease, Peritoneal abscess, Elevated gamma-glutamyltransferase level, Elevated... ORPHA:400
Hypermanganesemia With Dystonia 1
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased tota... OMIM:613280
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Hyperammonemia, Splenomegaly, Pancreatitis, Hepatomegaly ORPHA:79312
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Hepatic failure, Decreased plasma free carnitin... ORPHA:157
Combined Oxidative Phosphorylation Deficiency 19
Elevated gamma-glutamyltransferase level, Failure to thrive, Elevated circulating aspartate amino... OMIM:615595
T-Cell Immunodeficiency With Thymic Aplasia
Pneumonia, Eczematoid dermatitis, Failure to thrive, Hypocalcemic tetany, Atypical or prolonged h... ORPHA:83471
Chronic Mucocutaneous Candidiasis
Abnormal dental enamel morphology, Cheilitis, Skin rash, Hepatitis ORPHA:1334
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Failure to thrive OMIM:615085
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t... ORPHA:228305
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Splenomegaly OMIM:618852
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Increased circulating free fatty acid level, Elevated circulating hepatic transaminase... ORPHA:26793
Hurler-Scheie Syndrome
Hepatomegaly, Rhinitis, Hernia, Splenomegaly ORPHA:93476
Glycogen Storage Disease Ia
Elevated circulating hepatic transaminase concentration, Xanthelasma, Hyperlipidemia, Hyperuricem... OMIM:232200
Liver Failure, Infantile, Transient
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, ... OMIM:613070
Farber Lipogranulomatosis
Failure to thrive, Splenomegaly, Decreased acid ceramidase activity, Arthritis, Hepatomegaly OMIM:228000
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Pneumonia, Atopic dermatitis, Hepatitis, Increased circulating ferritin conce... OMIM:615846
H Syndrome
Hepatosplenomegaly, Hypertriglyceridemia ORPHA:168569
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Increased hepatic echogenicity, Hepatic steatosis, Low plasma citrulline, Elevat... OMIM:261680
Immunodeficiency 32B
Hypoalbuminemia, Pneumonia, Failure to thrive, Splenomegaly, Sinusitis, Hepatomegaly, Bronchiectasis OMIM:226990
Nodular Non-Suppurative Panniculitis
Splenomegaly, Inflammatory abnormality of the eye, Weight loss, Hepatomegaly, Panniculitis ORPHA:33577
Leishmaniasis
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Splenomegaly, Weight lo... ORPHA:507
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Decreased HDL cholesterol concentration ORPHA:79292
Pyruvate Carboxylase Deficiency
Hepatomegaly, Increased serum pyruvate, Hyperalaninemia OMIM:266150
Familial Multiple Lipomatosis
Hyperlipidemia ORPHA:199276
Systemic-Onset Juvenile Idiopathic Arthritis
Skin rash, Splenomegaly, Elevated circulating C-reactive protein concentration, Arthritis, Hepato... ORPHA:85414
Hemochromatosis, Type 1
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... OMIM:235200
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Cholelithiasis, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Irid... OMIM:240300
19P13.12 Microdeletion Syndrome
Self-injurious behavior, Hyperlipidemia, Hepatic steatosis, Hyperactivity ORPHA:254346
Glycerol Kinase Deficiency
Hyperglycerolemia, Chronic pancreatitis, Hypertriglyceridemia OMIM:307030
Immunodeficiency 7
Failure to thrive, Recurrent otitis media, Splenomegaly, Hepatomegaly, Chronic oral candidiasis OMIM:615387
Lipodystrophy, Familial Partial, Type 7
Failure to thrive, Decreased adipose tissue around neck, Absence of subcutaneous fat, Reduced sub... OMIM:606721
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho... OMIM:607626
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology, Weight loss ORPHA:1332
Myasthenia Gravis
Myositis, Rheumatoid arthritis, Hashimoto thyroiditis, Hepatitis ORPHA:589
Interstitial Lung And Liver Disease
Hepatic fibrosis, Hepatic failure, Elevated gamma-glutamyltransferase level, Failure to thrive, C... OMIM:615486
Ebola Hemorrhagic Fever
Maculopapular exanthema, Acute pancreatitis, Hepatitis ORPHA:319218
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen OMIM:235400
Majeed Syndrome
Inflammatory abnormality of the skin, Failure to thrive, Osteomyelitis, Splenomegaly, Synovitis, ... ORPHA:77297
Classic Hodgkin Lymphoma
Hepatomegaly, Weight loss, Skin rash, Splenomegaly ORPHA:391
Metachromatic Leukodystrophy
Gallbladder dysfunction, Cholecystitis OMIM:250100
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Recurrent otitis media, Pyoderma, Infectious encephalitis, Prostatitis, Enteroviral he... OMIM:307200
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic fibrosis, Hepatic failure, Cholestasis, Obesity, Splenomegaly, Hepatomegaly OMIM:615630
Citrullinemia, Classic
Reduced tissue argininosuccinate synthetase activity, Failure to thrive, Hyperammonemia, Hyperglu... OMIM:215700
Chédiak-Higashi Syndrome
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased circ... ORPHA:167
Glycogen Storage Disease Ib
Elevated circulating hepatic transaminase concentration, Xanthelasma, Hyperlipidemia, Splenomegal... OMIM:232220
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Hepatic failure, Decreased plasma free carnitin... ORPHA:228308
Proteasome-Associated Autoinflammatory Syndrome 4
Generalized lipodystrophy, Splenomegaly, Myositis, Hepatomegaly, Flexion contracture, Panniculitis OMIM:619183
Immunodeficiency, Common Variable, 1
Pneumonia, Recurrent pneumonia, Recurrent otitis media, Splenomegaly, Recurrent sinusitis, Hepato... OMIM:607594
Wolcott-Rallison Syndrome
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, ... ORPHA:1667
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Hepa... OMIM:201475
Gracile Syndrome
Increased circulating ferritin concentration, Cholestasis, Hepatic steatosis, Cirrhosis, Elevated... ORPHA:53693
Transaldolase Deficiency
Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Failure to thrive, Hepatosple... OMIM:606003
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Joint contracture of the hand, Foot joint contracture, Failure to thrive, Exocrine pancreatic ins... ORPHA:456312
Combined Oxidative Phosphorylation Deficiency 53
Septic arthritis, Failure to thrive, Osteomyelitis, Elevated circulating C-reactive protein conce... OMIM:619423
Fanconi-Bickel Syndrome
Hypouricemia, Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Failure to thri... OMIM:227810
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Recurrent otitis media, Elevated circulating aspartate... OMIM:616433
Peroxisome Biogenesis Disorder 13A (Zellweger)
Intrahepatic cholestasis, Increased circulating very long-chain fatty acid concentration, Elevate... OMIM:614887
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Psoriasiform dermatitis, Interface hepatitis, Enterocolitis, Enamel hypoplasia, Omphalocele OMIM:243150
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated circulating hepatic transaminase concentration, Decreased circulating carnitine concentr... OMIM:201450
Heme Oxygenase 1 Deficiency
Nephritis, Increased circulating lactate dehydrogenase concentration, Increased circulating ferri... OMIM:614034
Prolidase Deficiency
Recurrent pneumonia, Failure to thrive, Eczematoid dermatitis, Elevated circulating aspartate ami... OMIM:170100
Rett Syndrome
Bruxism, Hyperammonemia, Cholecystitis, Stereotypical hand wringing, Increased serum pyruvate, Mo... ORPHA:778
Intrahepatic Cholestasis Of Pregnancy
Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Cholecystitis, Incre... ORPHA:69665
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Large for gestational age, Hypophosphate... ORPHA:263455
Caroli Syndrome
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... ORPHA:480520
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated gamma-glutamyltransferase level, Elevated circulating creatinine concentration, Hepatic ... OMIM:613095
Hyperzincemia With Functional Zinc Depletion
Hepatomegaly, Increased serum zinc, Skin rash OMIM:601979
Aredyld Syndrome
Abnormal dental enamel morphology, Splenomegaly, Cachexia, Hepatomegaly, Lipoatrophy ORPHA:1133
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Jaundice, Splenomegaly OMIM:615631
Meckel Syndrome, Type 3
Malformation of the hepatic ductal plate, Hepatic fibrosis, Bile duct proliferation, Hepatomegaly OMIM:607361
Spondyloenchondrodysplasia
Pneumonia, Hepatitis, Skin rash, Arthritis, Juvenile rheumatoid arthritis ORPHA:1855
Zygomycosis
Cellulitis, Nephritis, Hepatitis, Fasciitis, Infectious encephalitis, Pustule, Peritonitis, Enter... ORPHA:73263
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Aplasia/Hypoplasia of the spleen, Rheumatoid arthritis, Biliary cirrhosis, He... ORPHA:227990
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia ORPHA:439232
Felty Syndrome
Cellulitis, Recurrent pneumonia, Episcleritis, Splenomegaly, Synovitis, Weight loss, Arthritis, S... ORPHA:47612
Ppoma
Intrahepatic cholestasis, Cholelithiasis, Abnormal abdomen morphology, Increased circulating cort... ORPHA:97278
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Elevated circulating hepatic transaminase concentration, Large for gestational age,... OMIM:616026
Desmoplastic Small Round Cell Tumor
Ascites, Cachexia, Weight loss, Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pan... ORPHA:83469
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Elevated gamma-glutamyltransferase level, Hepatic failure, Micronodular cirrhosis, Failure to thr... OMIM:256810
Immunodeficiency 82 With Systemic Inflammation
Hypoalbuminemia, Pneumonia, Hepatitis, Pustular rash, Recurrent otitis media, Osteomyelitis, Sple... OMIM:619381
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Hypocholesterolemia OMIM:618810
Bronchial Neuroendocrine Tumor
Pneumonia, Hepatic failure, Increased circulating cortisol level, Weight loss, Hepatomegaly ORPHA:97287
Rift Valley Fever
Elevated circulating hepatic transaminase concentration, Hepatitis, Skin rash, Infectious encepha... ORPHA:319251
Autoinflammation With Arthritis And Dyskeratosis
Failure to thrive, Splenomegaly, Punctate keratitis, Keratoconjunctivitis sicca, Elevated circula... OMIM:617388
Classical-Like Ehlers-Danlos Syndrome Type 2
Hypertriglyceridemia ORPHA:536532
Symptomatic Form Of Hfe-Related Hemochromatosis
Increased circulating ferritin concentration, Portal hypertension, Splenomegaly, Cardiomegaly, Ch... ORPHA:465508
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Aplasia/Hypoplasia of the spleen, Rheumatoid arthritis, Biliary cirrhosis, He... ORPHA:227982
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalcemia, Hypertriglyceridemia ORPHA:369837
Cystic Fibrosis
Recurrent pneumonia, Biliary cirrhosis, Failure to thrive, Exocrine pancreatic insufficiency, Hep... OMIM:219700
Simple Cryoglobulinemia
Nephritis, Weight loss, Membranoproliferative glomerulonephritis, Arthritis, Pericarditis, Viral ... ORPHA:91139
Postinfectious Vasculitis
Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Elevated haptoglobin lev... ORPHA:48435
Autoimmune Lymphoproliferative Syndrome
Uveitis, Hepatitis, Hypersplenism, Recurrent aphthous stomatitis, Splenomegaly, Gastritis, Glomer... ORPHA:3261
Primary Hepatic Neuroendocrine Carcinoma
Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... ORPHA:100085
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, Jaundice OMIM:613470
Reynolds Syndrome
Elevated circulating hepatic transaminase concentration, Biliary cirrhosis, Cholestasis, Hyperbil... OMIM:613471
Idiopathic Hypereosinophilic Syndrome
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Infl... ORPHA:3260
Relapsing Polychondritis
Uveitis, Keratitis, Hepatitis, Recurrent aphthous stomatitis, Chondritis, Episcleritis, Chondriti... ORPHA:728
Mcleod Syndrome
Elevated gamma-glutamyltransferase level, Increased circulating lactate dehydrogenase concentrati... OMIM:300842
Fucosidosis
Failure to thrive, Abnormality of the gallbladder, Cardiomegaly, Hepatomegaly, Lipoatrophy ORPHA:349
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased circulating cortisol level, Hyperaldosteronism, Hyperlipidemia, Hepatic steatosis, Para... ORPHA:189427
Acute Disseminated Encephalomyelitis
Optic neuritis, Myelitis, Herpes simplex encephalitis, Viral hepatitis ORPHA:83597
Glycogen Storage Disease Xii
Cholelithiasis, Hyperbilirubinemia, Cholecystitis, Splenomegaly, Reduced haptoglobin level, Eleva... OMIM:611881
Gaucher Disease
Splenic infarction, Cholelithiasis, Hepatic failure, Hepatitis, Increased circulating ferritin co... ORPHA:355
Periodic Fever, Familial, Autosomal Dominant
Erysipelas, Hepatic amyloidosis, Skin rash, Myositis, Oligoarthritis, Hepatomegaly, Conjunctiviti... OMIM:142680
Gaucher Disease Type 1
Splenic infarction, Elevated circulating CCL18 level, Cholelithiasis, Hepatic failure, Increased ... ORPHA:77259
Argininemia
Portal fibrosis, Micronodular cirrhosis, Cholestasis, Hyperammonemia, Hyperargininemia, Hyperacti... OMIM:207800
Glycogen Storage Disease Ic
Xanthelasma, Chronic pancreatitis, Hyperlipidemia, Hyperuricemia, Hepatoblastoma, Hepatomegaly, H... OMIM:232240
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Splenomegaly, Elevated hepatic iron concentration, ... OMIM:615234
Anemia, Congenital Dyserythropoietic, Type Ia
Increased circulating lactate dehydrogenase concentration, Hyperbilirubinemia, Splenomegaly, Prol... OMIM:224120
Agammaglobulinemia, X-Linked
Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Pyoderma, Recurrent sinusitis, Infec... OMIM:300755
Biliary, Renal, Neurologic, And Skeletal Syndrome
Elevated gamma-glutamyltransferase level, Cholestasis, Hyperbilirubinemia, Congenital hepatic fib... OMIM:619534
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated circulating hepatic transaminase concentration, Hypertriglyceridemia, Hepatomegaly, Elev... OMIM:619127
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Hepatitis, Psoriasiform dermatitis, Hashimoto thyroiditis, Omphalocele, Abnor... ORPHA:436252
Primary Triglyceride Deposit Cardiomyovasculopathy
Hyperlipidemia, Splenomegaly, Elevated circulating creatine kinase concentration, Pancreatitis, H... ORPHA:565612
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatic fibrosis, Inflammation of the large intestine, Elevated circulating hepatic transaminase ... OMIM:615895
Argininosuccinic Aciduria
Hepatic fibrosis, Failure to thrive, Elevated circulating aspartate aminotransferase concentratio... OMIM:207900
Senior-Boichis Syndrome
Malformation of the hepatic ductal plate, Hepatic fibrosis, Elevated circulating hepatic transami... ORPHA:84081
Vipoma
Intrahepatic cholestasis, Abnormal abdomen morphology, Increased circulating cortisol level, Subc... ORPHA:97282
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Cholelithiasis, Decreased liver function, Hepatosplenomegaly, Ab... ORPHA:231222
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... OMIM:208540
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Jaundice OMIM:185000
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Failure to thrive in infancy, Osteomyelitis, Splenomegaly, Skin rash, Pustule, Elevated circulati... OMIM:612852
Reynolds Syndrome
Ascites, Skin rash, Infectious encephalitis, Cirrhosis, Keratoconjunctivitis sicca, Arthritis, He... ORPHA:779
Kawasaki Disease
Hypoalbuminemia, Hepatitis, Conjunctivitis, Cholecystitis, Skin rash, Arthritis, Myocarditis, Ele... ORPHA:2331
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Cholecystitis, Intermittent jaundice, Biliary tract obstruction, Anorexia... ORPHA:100086
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Calcinosis ORPHA:90154
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Eczematoid dermatitis, Hepatitis, Chronic mucocutaneous can... ORPHA:391487
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Interstitial pneumonitis, Splenomegaly OMIM:620296
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg... OMIM:615415
Abetalipoproteinemia
Hypoalbuminemia, Hepatic fibrosis, Elevat