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Gene: Abcb11 MGI:1351619

Gene Summary

Name:

ATP-binding cassette, sub-family B member 11

Synonyms:

Bsep, PGY4, Lith1, PFIC2, ABC16, sister of P-glycoprotein

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased circulating potassium level	Abcb11^{tm1a(EUCOMM)Hmgu}	HOM	Early adult	4.20×10^-10
increased lean body mass	Abcb11^{tm1a(EUCOMM)Hmgu}	HOM	Early adult	1.14×10^-05
decreased locomotor activity	Abcb11^{tm1b(EUCOMM)Hmgu}	HET	Early adult	3.40×10^-06
abnormal lung morphology	Abcb11^{tm1b(EUCOMM)Hmgu}	HET	Early adult	0.00
increased circulating bilirubin level	Abcb11^{tm1b(EUCOMM)Hmgu}	HET	Early adult	0.00
increased circulating unsaturated transferrin level	Abcb11^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.78×10^-11
increased circulating fructosamine level	Abcb11^{tm1b(EUCOMM)Hmgu}	HET	Early adult	8.83×10^-12
abnormal retina morphology	Abcb11^{tm1a(EUCOMM)Hmgu}	HOM	Early adult	1.26×10^-07
increased circulating alkaline phosphatase level	Abcb11^{tm1a(EUCOMM)Hmgu}	HOM	Early adult	2.10×10^-05
increased circulating alkaline phosphatase level	Abcb11^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.68×10^-19
decreased circulating triglyceride level	Abcb11^{tm1b(EUCOMM)Hmgu}	HET	Early adult	3.05×10^-05
increased circulating aspartate transaminase level	Abcb11^{tm1b(EUCOMM)Hmgu}	HET	Early adult	7.31×10^-05
increased circulating amylase level	Abcb11^{tm1b(EUCOMM)Hmgu}	HET	Early adult	3.03×10^-07
preweaning lethality, incomplete penetrance	Abcb11^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.0455

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lacZ Expression

Expression data not available

Associated Images

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

Electrocardiogram (ECG)

Waveform Image

34 Images

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X-ray

XRay Images Whole Body Dorso Ventral

13 Images

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X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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Human diseases caused by Abcb11 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Abcb11 (3 diseases)
Human diseases predicted to be associated with Abcb11 (708 diseases)

The table below shows human diseases associated to Abcb11 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Failure to thrive, Splenomegaly, Elevated circulating alkaline phosphat...	OMIM:601847
Cholestasis, Benign Recurrent Intrahepatic, 2	Intrahepatic cholestasis, Cholelithiasis, Elevated circulating alkaline phosphatase concentration...	OMIM:605479
Intrahepatic Cholestasis Of Pregnancy	Elevated circulating hepatic transaminase concentration, Ascites, Hyperbilirubinemia, Cholecystit...	ORPHA:69665

The table below shows human diseases predicted to be associated to Abcb11 by phenotypic similarity.

Disease	Matching phenotypes	Source
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:235555
Citrullinemia, Type Ii, Neonatal-Onset	Elevated gamma-glutamyltransferase level, Hyperbilirubinemia, Hyperthreoninemia, Elevated circula...	OMIM:605814
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:607765
Glycogen Storage Disease Vi	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan...	OMIM:232700
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Failure to thriv...	OMIM:613812
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam...	ORPHA:69663
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Failure to thrive, Splenomegaly, Elevated circulating alkaline phosphat...	OMIM:601847
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic ...	OMIM:602347
Cholestasis, Progressive Familial Intrahepatic, 6	Intrahepatic cholestasis, Periportal fibrosis, Elevated circulating hepatic transaminase concentr...	OMIM:619484
Cholestasis, Intrahepatic, Of Pregnancy, 1	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Increased seru...	OMIM:147480
Cholestasis, Benign Recurrent Intrahepatic, 2	Intrahepatic cholestasis, Cholelithiasis, Elevated circulating alkaline phosphatase concentration...	OMIM:605479
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Portal fibrosis, Failure to thrive, In...	OMIM:619868
Cholestasis, Intrahepatic, Of Pregnancy 3	Abnormal liver function tests during pregnancy, Intrahepatic cholestasis, Jaundice, Increased ser...	OMIM:614972
Glycine N-Methyltransferase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypermethioninemia	OMIM:606664
Cholestasis, Benign Recurrent Intrahepatic, 1	Increased serum bile acid concentration, Intermittent jaundice, Pancreatitis, Intrahepatic choles...	OMIM:243300
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami...	OMIM:614480
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Failure to thrive, Splenomegaly, Cirrhosis, Short stature, Intrahepatic cholestas...	OMIM:211600
Bile Acid Synthesis Defect, Congenital, 4	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:214950
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Elevated gamma-glutamyltransferase l...	OMIM:617093
Cholestasis, Progressive Familial Intrahepatic, 11	Abnormal circulating bilirubin concentration, Elevated circulating aspartate aminotransferase con...	OMIM:619874
Cholestasis, Progressive Familial Intrahepatic, 4	Intrahepatic cholestasis, Hepatic failure, Portal hypertension, Cirrhosis, Hepatocellular carcinoma	OMIM:615878
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Hypertriglyceridemia	OMIM:619175
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Elevated gamma-glu...	ORPHA:53035
Crigler-Najjar Syndrome Type 2	Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia	ORPHA:79235
Platelet-Activating Factor Acetylhydrolase Deficiency	Platelet-activating factor acetylhydrolase deficiency, Increased level of platelet-activating factor	OMIM:614278
Congenital Disorder Of Glycosylation, Type Icc	Hepatomegaly	OMIM:301031
Fanconi-Bickel Syndrome	Hypouricemia, Intrahepatic cholestasis, Postprandial hyperglycemia, Elevated gamma-glutamyltransf...	OMIM:227810
Mednik Syndrome	Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Decreased circulatin...	ORPHA:171851
Galactosemia Iv	Hepatomegaly, Prolonged neonatal jaundice, Hypergalactosemia	OMIM:618881
Malaria	Hyperbilirubinemia, Gait imbalance, Elevated circulating C-reactive protein concentration	ORPHA:673
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S...	OMIM:620010
Cholestasis-Lymphedema Syndrome	Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple...	OMIM:214900
Hyperchlorhidrosis, Isolated	Hyponatremia, Hyperkalemia, Failure to thrive	OMIM:143860
Peroxisome Biogenesis Disorder 13A (Zellweger)	Intrahepatic cholestasis, Increased circulating very long-chain fatty acid concentration, Elevate...	OMIM:614887
Hypercholanemia, Familial, 2	Unconjugated hyperbilirubinemia, Increased serum bile acid concentration	OMIM:619256
Glutathione Peroxidase Deficiency	Neonatal hyperbilirubinemia	OMIM:614164
Jaundice, Familial Obstructive, Of Infancy	Neonatal hyperbilirubinemia	OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii	Conjugated hyperbilirubinemia	OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal	Neonatal unconjugated hyperbilirubinemia	OMIM:237900
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	OMIM:616828
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Hyperbilirubinemia	OMIM:618660
Crigler-Najjar Syndrome, Type Ii	Unconjugated hyperbilirubinemia	OMIM:606785
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Hyperbilirubinemia, Rotor Type	Conjugated hyperbilirubinemia	OMIM:237450
Irida Syndrome	Intrahepatic cholestasis, Decreased circulating copper concentration	ORPHA:209981
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu...	ORPHA:369
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	OMIM:237500
Rotor Syndrome	Hyperbilirubinemia, Conjugated hyperbilirubinemia	ORPHA:3111
Glycogen Storage Disease Ixa1	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hyperuricemi...	OMIM:306000
Rft1-Cdg	Hepatomegaly, Short stature, Failure to thrive	ORPHA:244310
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Growth delay, ...	OMIM:614921
Caroli Syndrome	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	ORPHA:480520
Glycogen Storage Disease Ixc	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Postnatal growth retardati...	OMIM:613027
Crigler-Najjar Syndrome, Type I	Unconjugated hyperbilirubinemia	OMIM:218800
Galactose Mutarotase Deficiency	Failure to thrive, Decreased liver function, Cholestasis, Abnormal circulating enzyme concentrati...	ORPHA:570422
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Intrahepatic cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbil...	OMIM:619685
Progressive Familial Intrahepatic Cholestasis	Failure to thrive, Cholestasis, Splenomegaly, Hypocalcemia, Hepatomegaly, Jaundice, Short stature	ORPHA:172
Edinburgh Malformation Syndrome	Neonatal hyperbilirubinemia	OMIM:129850
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Portal inflammation, Ballooning hepat...	OMIM:603471
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly	ORPHA:79281
Crigler-Najjar Syndrome Type 1	Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia	ORPHA:79234
Somatostatinoma	Intrahepatic cholestasis, Abnormal abdomen morphology, Increased circulating cortisol level, Asci...	ORPHA:97283
Congenital Disorder Of Glycosylation, Type Iip	Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ...	OMIM:616829
Primary Hepatic Neuroendocrine Carcinoma	Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration...	ORPHA:100085
Galactosemia Iii	Failure to thrive, Splenomegaly, Decreased beta-galactosidase activity, Hepatomegaly, Jaundice, H...	OMIM:230350
Cholesteryl Ester Storage Disease	Hepatic failure, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegal...	ORPHA:75234
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic bridging fibrosis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Cholestasi...	OMIM:619662
Lathosterolosis	Hepatic fibrosis, Intrahepatic cholestasis, Elevated circulating lathosterol concentration, Eleva...	OMIM:607330
Ppoma	Intrahepatic cholestasis, Cholelithiasis, Abnormal abdomen morphology, Increased circulating cort...	ORPHA:97278
Mulibrey Nanism	Hepatomegaly, Intrauterine growth retardation, Cachexia, Short stature	ORPHA:2576
Galactose Epimerase Deficiency	Splenomegaly, Weight loss, Hepatomegaly, Jaundice, Growth delay	ORPHA:79238
Lipodystrophy, Congenital Generalized, Type 3	Insulin resistance, Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hypocalcemia, Hyperchole...	OMIM:612526
Red Cell Phospholipid Defect With Hemolysis	Hyperbilirubinemia	OMIM:179700
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent...	OMIM:619658
Congenital Bile Acid Synthesis Defect Type 1	Elevated circulating hepatic transaminase concentration, Failure to thrive, Neonatal cholestatic ...	ORPHA:79301
Vipoma	Intrahepatic cholestasis, Abnormal abdomen morphology, Increased circulating cortisol level, Asci...	ORPHA:97282
Retinoschisis 1, X-Linked, Juvenile	Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,...	OMIM:312700
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I...	ORPHA:79303
Glycogen Storage Disease Iii	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hyperlip...	OMIM:232400
Biliary Atresia, Extrahepatic	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilir...	OMIM:210500
Exudative Vitreoretinopathy 7	Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold	OMIM:617572
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:616278
Nphp3-Related Meckel-Like Syndrome	Abnormal liver parenchyma morphology, Abnormality of the pancreas, Abnormal biliary tract morphology	ORPHA:3032
Gracile Syndrome	Increased circulating iron concentration, Increased circulating ferritin concentration, Cholestas...	OMIM:603358
Hepatic Veno-Occlusive Disease	Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Ascites, Incr...	ORPHA:890
Gilbert Syndrome	Unconjugated hyperbilirubinemia	OMIM:143500
Morbid Obesity And Spermatogenic Failure	Insulin resistance, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentrat...	OMIM:615703
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620126
Hemochromatosis, Neonatal	Hepatic fibrosis, Hepatic failure, Increased circulating iron concentration, Hypoglycemia, Hepato...	OMIM:231100
Grfoma	Intrahepatic cholestasis, Cholelithiasis, Abnormal abdomen morphology, Increased circulating cort...	ORPHA:97261
Niemann-Pick Disease, Type B	Increased LDL cholesterol concentration, Splenomegaly, Hypertriglyceridemia, Decreased acid sphin...	OMIM:607616
Gallbladder Disease 1	Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal...	OMIM:600803
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620125
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Acute hepatic failure, Hepat...	OMIM:278000
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia	OMIM:609016
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Hyperkalemia, Failure to thrive, Increased circulating renin level	OMIM:610600
Exudative Vitreoretinopathy 3	Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold	OMIM:605750
Glucagonoma	Intrahepatic cholestasis, Abnormal abdomen morphology, Increased circulating cortisol level, Asci...	ORPHA:97280
3-Methylglutaconic Aciduria Type 1	Hepatomegaly, Failure to thrive, Hypoglycemia	ORPHA:67046
Wolman Disease	Reduced lysosomal acid lipase activity, Failure to thrive, Acute hepatic failure, Splenomegaly, H...	OMIM:620151
Cholestasis-Lymphedema Syndrome	Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,...	ORPHA:1414
Hyperbilirubinemia, Shunt, Primary	Hyperbilirubinemia	OMIM:237800
Hijazi-Reis Syndrome	Hyperbilirubinemia, Recurrent respiratory infections, Gait disturbance	OMIM:301094
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Hyperkalemia, Failure to thrive, Increased circulating renin level	OMIM:203400
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615158
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Intrauterine growth retardation, Abnormality of the liver	ORPHA:1980
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Neonatal hyperbilirubinemia, Ataxia	ORPHA:3363
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, I...	OMIM:619048
Familial Drusen	Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi...	ORPHA:75376
X-Linked Retinal Dysplasia	Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation	ORPHA:1852
Bile Acid Conjugation Defect 1	Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat...	OMIM:619232
Farber Disease	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Failu...	ORPHA:333
Malignant Hyperthermia, Susceptibility To, 2	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154275
Glycogen Storage Disease Ixb	Growth delay, Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepa...	OMIM:261750
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi...	ORPHA:79506
Systemic Primary Carnitine Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration	ORPHA:158
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice	OMIM:614876
Lathosterolosis	Intrahepatic cholestasis, Hepatic failure, Failure to thrive, Intrauterine growth retardation, He...	ORPHA:46059
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Increased total bilirubin	OMIM:174050
Hyperkalemic Periodic Paralysis	Hyperkalemia	OMIM:170500
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Malignant Hyperthermia, Susceptibility To, 3	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154276
Galactokinase Deficiency	Small for gestational age, Failure to thrive, Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia,...	ORPHA:79237
Cog7-Cdg	Elevated circulating hepatic transaminase concentration, Failure to thrive, Postnatal growth reta...	ORPHA:79333
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hypertriglyceridemia	OMIM:615924
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Hepatomegaly, Large for gestational age	ORPHA:2432
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, In...	ORPHA:247598
Fumarase Deficiency	Intrahepatic cholestasis, Hepatic failure, Failure to thrive, Ascites, Hyperbilirubinemia, Decrea...	OMIM:606812
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Failure to thrive, Increased circulating renin level	OMIM:177735
Hepatoportal Sclerosis	Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circula...	ORPHA:64743
Hemophagocytic Lymphohistiocytosis, Familial, 4	Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia, Hepatomegaly, J...	OMIM:603552
Multiple Symmetric Lipomatosis	Hepatomegaly, Insulin resistance	ORPHA:2398
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Failure to thrive, Exocrine pancreatic insufficiency, Splenomegaly, Hepatomegaly, Jaundice, Steat...	OMIM:612714
Hemochromatosis, Type 2B	Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami...	OMIM:613313
Isolated Polycystic Liver Disease	Increased total bilirubin	ORPHA:2924
Megaloblastic Anemia, Folate-Responsive	Hyperbilirubinemia, Hyperhomocystinemia, Increased circulating ferritin concentration	OMIM:601775
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic failure, Portal fibr...	OMIM:617394
Isolated Biliary Atresia	Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans...	ORPHA:30391
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Failure to thrive, Increased circulating renin level	ORPHA:556037
Budd-Chiari Syndrome	Elevated circulating hepatic transaminase concentration, Ascites, Acute hepatic failure, Portal h...	ORPHA:131
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,...	OMIM:618528
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia	OMIM:141000
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Unconjugated hyperbilirubinemia, Reduced red cell pyruvate kinase level, Intraute...	OMIM:266200
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia	OMIM:609153
Rhizomelic Chondrodysplasia Punctata, Type 2	Rhizomelia, Disproportionate short stature, Failure to thrive, Short stature, Decreased circulati...	OMIM:222765
Malignant Hyperthermia, Susceptibility To, 1	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:145600
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma	ORPHA:882
Congenital Disorder Of Glycosylation, Type Iir	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ...	OMIM:301045
Hypermethioninemia Due To Adenosine Kinase Deficiency	Hypermethioninemia, Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubine...	OMIM:614300
Wolman Disease	Hepatic failure, Ascites, Splenomegaly, Cachexia, Hepatomegaly, Growth delay, Steatorrhea	ORPHA:75233
Congenital Disorder Of Glycosylation, Type Iik	Growth delay, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, E...	OMIM:614727
Hyperinsulinism Due To Hnf1A Deficiency	Hypoglycemic seizures, Maturity-onset diabetes of the young, Large for gestational age, Hyperinsu...	ORPHA:324575
Hepatitis, Fulminant Viral, Susceptibility To	Hepatic failure, Elevated circulating hepatic transaminase concentration, Type I diabetes mellitu...	OMIM:618549
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Increased circulating ferritin concentration, Hyperbilirubinemia, Hypertriglyceridemia, Elevated ...	ORPHA:158057
Apparent Mineralocorticoid Excess	Failure to thrive, Decreased circulating renin level, Hypokalemia, Hypertensive retinopathy, Smal...	OMIM:218030
Liver Disease, Severe Congenital	Portal inflammation, Hyperbilirubinemia, Hepatic steatosis, Abnormal hepatic echogenicity, Hepato...	OMIM:619991
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Obesity...	ORPHA:209902
Pseudohypoaldosteronism, Type Iia	Hyperkalemia	OMIM:145260
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Splenomegaly	ORPHA:46532
Idiopathic Congenital Hypothyroidism	Lethargy, Neonatal hyperbilirubinemia	ORPHA:95717
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Elevated transferrin saturation, Unconjugated hyperbilirubinemia, Increased circulating iron conc...	ORPHA:766
Lipoyltransferase 1 Deficiency	Hyperprolinemia, Hyperglutaminemia, Increased total bilirubin	OMIM:616299
Combined Oxidative Phosphorylation Deficiency 34	Hepatic failure, Failure to thrive, Hypoglycemia, Elevated circulating creatinine concentration, ...	OMIM:617872
Congenital Bile Acid Synthesis Defect Type 3	Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa...	ORPHA:79302
Apolipoprotein C-Ii Deficiency	Increased circulating chylomicron concentration, Splenomegaly, Pancreatitis, Hypercholesterolemia...	OMIM:207750
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Failure to thrive, Increased circulating renin level	ORPHA:556030
Sandhoff Disease	Hepatomegaly, Splenomegaly, Failure to thrive	ORPHA:796
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Acth Deficiency, Isolated	Cholestasis, Jaundice, Fasting hypoglycemia, Decreased circulating cortisol level	OMIM:201400
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Abnormal circulating thyroglobulin concentration, Conjugated hyperbilirubinemia	ORPHA:95715
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Short stature, Splenomegaly	ORPHA:417
Galactosemia I	Increased level of galactitol in red blood cells, Failure to thrive, Decreased liver function, El...	OMIM:230400
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per...	ORPHA:139507
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia	OMIM:614495
Congenital Disorder Of Glycosylation, Type In	Hepatomegaly, Short stature, Failure to thrive	OMIM:612015
Lambert Syndrome	Cholestasis, Failure to thrive in infancy, Intrauterine growth retardation, Intrahepatic biliary ...	ORPHA:1296
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ...	OMIM:620454
Immunodeficiency 104	Hepatomegaly, Splenomegaly, Failure to thrive secondary to recurrent infections	OMIM:608971
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra...	OMIM:616860
Bile Acid Malabsorption, Primary, 2	Elevated gamma-glutamyltransferase level, Periportal fibrosis, Decreased circulating chenodeoxych...	OMIM:619481
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio...	ORPHA:65682
Mitochondrial Myopathy, Infantile, Transient	Decreased circulating carnitine concentration, Failure to thrive, Elevated circulating creatine k...	OMIM:500009
Obesity Due To Prohormone Convertase I Deficiency	Failure to thrive, Cholestasis, Obesity, Hyperinsulinemia, Childhood-onset truncal obesity, Delay...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Failure to thrive, Cholestasis, Obesity, Hyperinsulinemia, Childhood-onset truncal obesity, Delay...	ORPHA:71526
Hyperlipoproteinemia, Type Id	Failure to thrive, Increased circulating chylomicron concentration, Splenomegaly, Hypertriglyceri...	OMIM:615947
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Fanconi-Bickel Syndrome	Postprandial hyperglycemia, Hepatic failure, Failure to thrive, Glycosuria, Elevated circulating ...	ORPHA:2088
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas...	OMIM:267700
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen...	OMIM:617068
Lipodystrophy, Familial Partial, Type 1	Insulin-resistant diabetes mellitus, Hyperglycemia, Hypertriglyceridemia, Hepatomegaly, Acute pan...	OMIM:608600
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypocholesterolemia, Hypersplenism, Splenomegaly	OMIM:610539
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega...	OMIM:616217
Hypokalemic Tubulopathy And Deafness	Hyperaldosteronism, Increased circulating renin level, Ataxia	OMIM:619406
Harderoporphyria	Neonatal hyperbilirubinemia, Increased circulating ferritin concentration	OMIM:618892
Hypermanganesemia With Dystonia 1	Increased total iron binding capacity, Steppage gait, Hypermanganesemia, Unconjugated hyperbiliru...	OMIM:613280
Hyperbiliverdinemia	Cholestasis, Elevated circulating biliverdin concentration, Cholelithiasis, Decreased liver function	OMIM:614156
Retinitis Pigmentosa 59	Hepatomegaly, Intrauterine growth retardation, Elevated circulating hepatic transaminase concentr...	OMIM:613861
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ...	OMIM:618641
Propionic Acidemia	Hepatomegaly, Propionyl-CoA carboxylase deficiency, Hyperammonemia, Hypoglycemia	ORPHA:35
Hemoglobin H Disease	Hepatomegaly, Splenomegaly	OMIM:613978
Lymphoproliferative Syndrome, X-Linked, 2	Hepatitis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia, Hepa...	OMIM:300635
Congenital Toxoplasmosis	Elevated circulating hepatic transaminase concentration, Ascites, Failure to thrive in infancy, I...	ORPHA:858
Dubin-Johnson Syndrome	Abnormality of the liver, Biliary tract abnormality, Hepatomegaly, Jaundice, Conjugated hyperbili...	ORPHA:234
Hemochromatosis, Type 4	Increased circulating ferritin concentration, Glucose intolerance, Hepatic steatosis, Cirrhosis, ...	OMIM:606069
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Cholestasis, Hepatic steatosis, Increased body weight, Cirrhosis, Hepatomegaly, Portal fibrosis, ...	ORPHA:264580
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Splenomegaly	OMIM:606445
Lipodystrophy, Familial Partial, Type 5	Hepatic steatosis, Hypertriglyceridemia, Hepatomegaly, Increased C-peptide level, Diabetic ketoac...	OMIM:615238
Cholestasis, Progressive Familial Intrahepatic, 5	Pleural effusion, Hyperammonemia, Conjugated hyperbilirubinemia, Elevated circulating alpha-fetop...	OMIM:617049
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Hyperammonemia, Failure to thrive	ORPHA:28
Pyruvate Dehydrogenase E3 Deficiency	Elevated circulating branched chain amino acid concentration, Hepatic failure, Elevated circulati...	ORPHA:2394
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Hyperkalemia, Failure to thrive	OMIM:264350
Cyanosis, Transient Neonatal	Hepatomegaly, Jaundice	OMIM:613977
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Weight loss, Splenomegaly	ORPHA:86893
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	OMIM:600649
Osteopetrosis, Autosomal Recessive 9	Elevated circulating creatinine concentration, Papilledema, Hyperkalemia	OMIM:620366
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hyperkalemia	OMIM:614496
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Transient...	ORPHA:156
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Large for ...	ORPHA:276575
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Intrauterine growth retardation, Hepat...	ORPHA:53693
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Combined Oxidative Phosphorylation Deficiency 1	Cholestasis, Hepatomegaly, Intrauterine growth retardation, Fulminant hepatic failure	OMIM:609060
Autosomal Dominant Spastic Paraplegia Type 29	Hyperbilirubinemia	ORPHA:101009
Generalized Pseudohypoaldosteronism Type 1	Failure to thrive in infancy, Hyponatremia, Weight loss, Hyperkalemia, Increased circulating reni...	ORPHA:171876
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Cardiomega...	OMIM:619064
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	OMIM:605911
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia	OMIM:240200
Alpha-Heavy Chain Disease	Ascites, Splenomegaly, Hypocalcemia, Hepatomegaly, Growth delay	ORPHA:100025
Retinitis Pigmentosa 13	Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat...	OMIM:600059
Pseudohypoaldosteronism Type 2	Hyperkalemia	ORPHA:757
Familial Thyroid Dyshormonogenesis	Abnormal circulating thyroglobulin concentration, Lethargy, Neonatal hyperbilirubinemia	ORPHA:95716
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Cholecystitis, Reduced erythrocyte hexokinase a...	OMIM:235700
Hyperinsulinism Due To Ucp2 Deficiency	Diffuse pancreatic islet hyperplasia, Hypoglycemic seizures, Recurrent hypoglycemia, Large for ge...	ORPHA:276556
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran...	OMIM:255120
Combined Oxidative Phosphorylation Deficiency 9	Elevated gamma-glutamyltransferase level, Failure to thrive, Elevated circulating aspartate amino...	OMIM:614582
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hyperbilirubinemia, Ataxia	ORPHA:713
Glycogen Storage Disease Vii	Increased total bilirubin, Hyperuricemia, Elevated circulating creatine kinase concentration	OMIM:232800
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly	OMIM:616719
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul...	OMIM:241150
Mpi-Cdg	Hypoalbuminemia, Hepatic fibrosis, Failure to thrive, Decreased liver function, Abnormal circulat...	ORPHA:79319
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia...	ORPHA:79240
Klatskin Tumor	Weight loss, Cholangiocarcinoma, Hepatomegaly, Jaundice, Extrahepatic cholestasis	ORPHA:99978
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E...	OMIM:251880
Citrullinemia Type Ii	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decre...	ORPHA:247585
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Failure to thrive, Cirrhosis, Hyperinsulinemi...	OMIM:602579
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Large for ...	ORPHA:276580
Familial Partial Lipodystrophy, Köbberling Type	Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancreatitis, Hepatomegaly, Diabetes mel...	ORPHA:79084
Johanson-Blizzard Syndrome	Intrahepatic cholestasis, Hepatic fibrosis, Hepatic failure, Elevated gamma-glutamyltransferase l...	OMIM:243800
Dihydrolipoamide Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decreased liver function, ...	OMIM:246900
Immunodeficiency 54	Failure to thrive, Postnatal growth retardation, Intrauterine growth retardation, Splenomegaly, H...	OMIM:609981
Porphyria Cutanea Tarda	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation...	ORPHA:101330
Akt2-Related Familial Partial Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Hypertriglyceridemia,...	ORPHA:79085
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Ascites, Hepatomegaly, Weight loss	ORPHA:2198
Intrahepatic Cholestasis Of Pregnancy	Elevated circulating hepatic transaminase concentration, Ascites, Hyperbilirubinemia, Cholecystit...	ORPHA:69665
Alpha-1-Antitrypsin Deficiency	Hepatic failure, Reduced circulating alpha-1-antitrypsin concentration, Hepatitis, Cholestasis, C...	ORPHA:60
Barth Syndrome	Growth delay, Elevated monolysocardiolipin/cardiolipin ratio, Failure to thrive	OMIM:302060
Immunodeficiency 114, Folate-Responsive	Increased circulating ferritin concentration, Postnatal growth retardation, Splenomegaly, Hypertr...	OMIM:620603
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Hyperbilirubinemia	OMIM:609734
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Failure to thrive in infancy, Hepatic steatosis, Pancreatitis, Elevated circulat...	OMIM:618805
Congenital Disorder Of Glycosylation, Type Iij	Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Sple...	OMIM:613489
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Hyperkalemia, Failure to thrive	OMIM:614736
Griscelli Syndrome Type 2	Hepatomegaly, Jaundice, Hyperlipidemia, Splenomegaly	ORPHA:79477
Glycogen Storage Disease Xii	Cholelithiasis, Increased circulating lactate dehydrogenase concentration, Hyperbilirubinemia, Ch...	OMIM:611881
Pediatric Hepatocellular Carcinoma	Hepatic fibrosis, Hepatic necrosis, Portal vein thrombosis, Hepatomegaly, Elevated circulating al...	ORPHA:33402
Infantile Sialic Acid Storage Disease	Conjugated hyperbilirubinemia	OMIM:269920
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Cholelithiasis, Pigment gallstones, Decreased glucosephosphate isomerase level, Splenomegaly, Cho...	OMIM:613470
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Elevated gamma-glutamyltransferase level, Elevated cir...	OMIM:619463
Wilson Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Failure to thrive, Acute hepa...	ORPHA:905
Peroxisome Biogenesis Disorder 6A (Zellweger)	Hepatomegaly, Decreased liver function	OMIM:614870
Peroxisome Biogenesis Disorder 3B	Failure to thrive, Elevated circulating phytanic acid concentration, Hypocholesterolemia, Hepatom...	OMIM:266510
Carnitine Deficiency, Systemic Primary	Decreased circulating carnitine concentration, Failure to thrive, Recurrent hypoglycemia, Elevate...	OMIM:212140
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Hyperbilirubinemia, Lethargy, Hypertyrosinemia, Conjugated h...	OMIM:617156
Gaucher Disease, Type Iii	Splenomegaly, Decreased body weight, Decreased beta-glucocerebrosidase level, Hepatomegaly, Short...	OMIM:231000
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatic failure, Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Low plasma citr...	OMIM:261680
Trichohepatoenteric Syndrome 2	Decreased circulating iron concentration, Failure to thrive, Intrauterine growth retardation, Cir...	OMIM:614602
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Splenomegaly, Failure to thrive, Enlarged kidney	OMIM:615285
Spherocytosis, Type 4	Hyperbilirubinemia	OMIM:612653
Anemia, Congenital Dyserythropoietic, Type Ib	Growth delay, Splenomegaly, Hepatomegaly, Jaundice, Short stature	OMIM:615631
Infantile Liver Failure Syndrome 1	Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute hepatic failure...	OMIM:615438
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hyperbilirubinemia	OMIM:266120
Coproporphyria, Hereditary	Hepatomegaly, Jaundice, Splenomegaly	OMIM:121300
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Hepatomegaly, Abnormality of the liver, Decreased circulating carnitine concentration, Mildly ele...	ORPHA:254864
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Short stature, Splenomegaly	ORPHA:2204
Hyperkalemic Periodic Paralysis	Hypokalemia, Hyperkalemia, Hyponatremia, Elevated circulating creatine kinase concentration	ORPHA:682
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:59303
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Elevated gamma-glutamyltransferase level, Ascites, Cholecystitis, Elevate...	ORPHA:100086
Combined Oxidative Phosphorylation Deficiency 47	Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemia, Intraut...	OMIM:618958
Amyloidosis, Hereditary Systemic 2	Cholestasis, Hepatomegaly, Splenomegaly	OMIM:105200
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Growth delay, Failure to t...	OMIM:613561
Mitochondrial Pyruvate Carrier Deficiency	Hepatomegaly, Increased serum pyruvate, Hypoglycemia	OMIM:614741
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Cholestatic liver disease, Giant cell hepatitis, Elevated gamma-glutamyltransferase level, Elevat...	OMIM:208085
Familial Chylomicronemia Syndrome	Failure to thrive, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipi...	ORPHA:444490
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hyperbilirubinemia	OMIM:301083
Hemochromatosis, Type 2A	Increased circulating iron concentration, Increased circulating ferritin concentration, Splenomeg...	OMIM:602390
Liver Failure, Infantile, Transient	Hypoalbuminemia, Hyperbilirubinemia	OMIM:613070
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatic fibrosis, Hepatic failure, Cholestasis, Obesity, Glucose intolerance, Splenomegaly, Hepat...	OMIM:615630
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Insulin resistance, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, E...	OMIM:615381
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia, ...	OMIM:616026
Congenital Generalized Lipodystrophy	Insulin resistance, Failure to thrive, Hyperinsulinemia, Hepatic steatosis, Cirrhosis, Hyperchole...	ORPHA:528
Car T Cell Therapy-Associated Cytokine Release Syndrome	Pulmonary edema, Elevated circulating creatinine concentration, Hyperbilirubinemia, Pleural effusion	ORPHA:542323
Immunodeficiency 48	Hepatomegaly, Splenomegaly, Failure to thrive	OMIM:269840
Metachromatic Leukodystrophy	Gallbladder dysfunction, Reduced leukocyte arylsulfatase A activity, Cholecystitis	OMIM:250100
Hyperaldosteronism, Familial, Type Ii	Hypokalemia	OMIM:605635
Hypocalcemia, Autosomal Dominant 1	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level	OMIM:601198
Leber Congenital Amaurosis 1	Hepatomegaly, Hyperthreoninemia, Growth delay	OMIM:204000
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Hypertr...	OMIM:603553
Mu-Heavy Chain Disease	Hepatomegaly, Weight loss, Splenomegaly	ORPHA:100024
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Xanthelasma, Increased LDL cholesterol concentration, Ob...	ORPHA:412
Wolcott-Rallison Syndrome	Hypoalbuminemia, Difficulty walking, Hyperbilirubinemia, Hyperammonemia, Hyponatremia	ORPHA:1667
Mast Cell Sarcoma	Hepatomegaly, Weight loss, Splenomegaly	ORPHA:66661
Rh-Null, Amorph Type	Hyperbilirubinemia	OMIM:617970
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Decreased liver function, Hypoglycemia, ...	ORPHA:42
Glycogen Storage Disease Due To Aldolase A Deficiency	Hyperkalemia, Elevated creatine kinase after exercise	ORPHA:57
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Splenomegaly	OMIM:607685
Spherocytosis, Type 1	Hyperbilirubinemia	OMIM:182900
Fetal Cytomegalovirus Syndrome	Elevated circulating hepatic transaminase concentration, Hepatitis, Intrauterine growth retardati...	ORPHA:294
Tangier Disease	Decreased HDL cholesterol concentration, Splenomegaly, Elevated circulating apolipoprotein A-II c...	OMIM:205400
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen...	OMIM:613404
Aicardi-Goutieres Syndrome 4	Elevated circulating hepatic transaminase concentration, Intrauterine growth retardation, Hepatos...	OMIM:610333
Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Failure to thrive, Increased circulating renin level	ORPHA:427
Severe Neurodegenerative Syndrome With Lipodystrophy	Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Cirrhosis, Hypertriglyceridemia, Hepatom...	ORPHA:363400
Spherocytosis, Type 2	Hyperbilirubinemia	OMIM:616649
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated circulating hepatic transaminase concentration, Glycosuria, Large for gestational age, H...	ORPHA:263455
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Macrovesicular hepatic steatosis, Failure to thrive	OMIM:618234
Rh-Null, Regulator Type	Unconjugated hyperbilirubinemia	OMIM:268150
Drug-Induced Autoimmune Hemolytic Anemia	Increased total bilirubin	ORPHA:90037
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Weight loss	ORPHA:1332
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Hepatomegaly, Growth delay, Delayed puberty, Elevated circulating creatine kinase concentration	OMIM:615704
Peroxisome Biogenesis Disorder 7A (Zellweger)	Hepatomegaly, Jaundice, Elevated circulating tetracosanoic acid concentration, Elevated circulati...	OMIM:614872
Pfapa Syndrome	Hepatomegaly, Weight loss, Splenomegaly	ORPHA:42642
Macrophage Activation Syndrome	Hypoalbuminemia, Increased circulating lactate dehydrogenase concentration, Hepatitis, Decreased ...	ORPHA:158061
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Hepatomegaly, Intrauterine growth retardation, Short stature, Failure to thrive	ORPHA:50812
Pyruvate Carboxylase Deficiency	Hepatomegaly, Increased serum pyruvate, Hyperalaninemia, Hypoglycemia	OMIM:266150
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Failure to thrive, Exocrine pancreatic insufficiency, Mild postnatal growth retardation, Hyperech...	ORPHA:456312
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t...	ORPHA:228305
Primary Biliary Cholangitis	Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Elevated gamma-glutamyltra...	ORPHA:186
Maternal Uniparental Disomy Of Chromosome 1	Type I diabetes mellitus, Growth delay, Failure to thrive, Hepatomegaly, Short stature	ORPHA:251009
Abetalipoproteinemia	Hypoalbuminemia, Broad-based gait, Hypotriglyceridemia, Decreased HDL cholesterol concentration, ...	ORPHA:14
Congenital Dyserythropoietic Anemia Type Iii	Increased circulating iron concentration, Hyperbilirubinemia, Increased total iron binding capacity	ORPHA:98870
Cardiomyopathy, Familial Restrictive, 6	Ascites, Hepatomegaly, Portal vein hypoplasia, Hepatic artery hyperplasia	OMIM:619433
Liddle Syndrome 2	Hypokalemia, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypokalemia, Decreased circulating renin level	OMIM:618126
Cidec-Related Familial Partial Lipodystrophy	Insulin-resistant diabetes mellitus, Hepatic steatosis, Pancreatitis, Hypertriglyceridemia, Hepat...	ORPHA:435651
Argininemia	Portal fibrosis, Micronodular cirrhosis, Cholestasis, Postnatal growth retardation, Hyperammonemi...	OMIM:207800
Anemia, Congenital Dyserythropoietic, Type Ia	Increased circulating lactate dehydrogenase concentration, Hyperbilirubinemia, Mild postnatal gro...	OMIM:224120
Glycogen Storage Disease Ia	Elevated circulating hepatic transaminase concentration, Growth delay, Hypoglycemia, Xanthelasma,...	OMIM:232200
Hyperlipoproteinemia, Type I	Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid...	OMIM:238600
Birk-Landau-Perez Syndrome	Failure to thrive in infancy, Optic atrophy, Increased circulating creatine kinase MB isoform, Hy...	OMIM:617595
Distal Xq28 Microduplication Syndrome	Recurrent upper respiratory tract infections, Neonatal hyperbilirubinemia, Tip-toe gait	ORPHA:293939
Immunodeficiency 47	Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans...	OMIM:300972
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatomegaly, Hepatic cysts	OMIM:617004
Isolated Sedoheptulokinase Deficiency	Cholestatic liver disease, Postprandial hyperglycemia, Hepatitis, Cholestasis, Portal hypertensio...	ORPHA:440713
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia	OMIM:613345
Relapsing Fever	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:91547
Hemochromatosis, Type 1	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	OMIM:235200
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Hepatomegaly, Abnormal circulating creatine kinase concentration, Elevated circulating hepatic tr...	ORPHA:369840
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Splenomegaly	OMIM:133180
Elliptocytosis 2	Neonatal hyperbilirubinemia	OMIM:130600
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hypoalbuminemia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Failur...	ORPHA:367
Hypothyroidism Due To Tsh Receptor Mutations	Lethargy, Neonatal hyperbilirubinemia, Increased circulating thyroglobulin concentration	ORPHA:90673
Cystic Echinococcosis	Cholestatic liver disease, Peritoneal abscess, Elevated gamma-glutamyltransferase level, Elevated...	ORPHA:400
Autoinflammation, Immune Dysregulation, And Eosinophilia	Failure to thrive, Hepatosplenomegaly, Hepatic cysts, Short stature, Eosinophilic liver infiltration	OMIM:618999
Neutral Lipid Storage Myopathy	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	ORPHA:98908
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Splenomegaly	OMIM:603902
Genetic Recurrent Myoglobinuria	Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase	ORPHA:99845
Pleural Mesothelioma	Hepatomegaly, Weight loss	ORPHA:50251
Acute Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia	ORPHA:529799
Chronic Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia	ORPHA:529808
Immunodeficiency 42	Hepatomegaly, Splenomegaly	OMIM:616622
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Failure to thrive, Decreased liver function, Cholestasis, Elevated circulating c...	OMIM:608104
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Increased total bilirubin, Elevated circulating creatinine concentration, Decreased plasma free c...	OMIM:608836
Bachmann-Bupp Syndrome	Hyperbilirubinemia	OMIM:619075
Mixed-Type Autoimmune Hemolytic Anemia	Increased total bilirubin	ORPHA:90036
Bartter Syndrome, Type 5, Antenatal, Transient	Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level	OMIM:300971
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia	OMIM:614886
Lipe-Related Familial Partial Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Elevated circulating ...	ORPHA:435660
Pparg-Related Familial Partial Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Splenomegaly, Hepatic steatosis, Hyperur...	ORPHA:79083
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Postnatal growth retardation, Short stature, Splenomegaly	OMIM:620210
Niemann-Pick Disease, Type A	Failure to thrive, Ascites, Elevated circulating aspartate aminotransferase concentration, Spleno...	OMIM:257200
Interstitial Lung And Liver Disease	Hepatic fibrosis, Hepatic failure, Elevated gamma-glutamyltransferase level, Failure to thrive, C...	OMIM:615486
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Failure to thrive, Decreased liver function, Acute hepatitis, Hyperornithinemia, Hyperammonemia, ...	OMIM:238970
Cadds	Elevated circulating hepatic transaminase concentration, Cholestasis, Intrauterine growth retarda...	ORPHA:369942
Mitchell-Riley Syndrome	Annular pancreas, Pancreatic hypoplasia, Cholestasis, Ascites, Intrauterine growth retardation, H...	OMIM:615710
Peroxisome Biogenesis Disorder 3A (Zellweger)	Hepatomegaly, Increased circulating very long-chain fatty acid concentration	OMIM:614859
Dehydrated Hereditary Stomatocytosis 2	Hyperbilirubinemia	OMIM:616689
Combined Oxidative Phosphorylation Deficiency 19	Elevated gamma-glutamyltransferase level, Failure to thrive, Elevated circulating aspartate amino...	OMIM:615595
Infantile Refsum Disease	Hepatomegaly, Elevated circulating phytanic acid concentration, Short stature, Failure to thrive	ORPHA:772
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Failure to thrive	OMIM:615085
Familial Pseudohyperkalemia	Hyperkalemia	ORPHA:90044
Citrullinemia, Classic	Reduced tissue argininosuccinate synthetase activity, Failure to thrive, Hyperammonemia, Hyperglu...	OMIM:215700
Neutral Lipid Storage Disease With Myopathy	Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Splenomegaly, Hepa...	OMIM:610717
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Splenomegaly	OMIM:618852
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Cholestatic liver disease, Failure to thrive, Hypoglycemia, Hypoketotic hypoglycemia, Hepatomegaly	ORPHA:5
B4Galt1-Cdg	Elevated circulating hepatic transaminase concentration, Abnormal circulating enzyme concentratio...	ORPHA:79332
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho...	OMIM:607626
Liddle Syndrome 1	Hypokalemia, Decreased circulating renin level	OMIM:177200
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated circulating hepatic transaminase concentration, Decreased circulating carnitine concentr...	OMIM:201450
Pyruvate Carboxylase Deficiency	Neonatal hyperbilirubinemia, Tip-toe gait, Hyperammonemia, Hyperglutamatemia, Hyperprolinemia, Hy...	ORPHA:3008
Transaldolase Deficiency	Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Failure to thrive, Hepatosple...	OMIM:606003
Reese Retinal Dysplasia	Retinal dysplasia, Remnants of the hyaloid vascular system	OMIM:266400
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Decreased HDL cholesterol concentration	ORPHA:79292
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Failure to thrive, Hyperammonemia, Splenomegaly, Pancreatitis, Hepatomegaly	ORPHA:79312
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Hepatic failure, Portal hypertension, Cholecystitis, S...	OMIM:620367
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Elevated gamma-glutamyltransferase level, Elevated circulating creatinine concentration, Hepatic ...	OMIM:613095
Spastic Paraplegia 29, Autosomal Dominant	Neonatal hyperbilirubinemia	OMIM:609727
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:602088
Glycogen Storage Disease Ib	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Reduced hepatic glucose-6-...	OMIM:232220
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Elevated gamma-glutamyltransferase level, Recurrent hypoglycemia, Cholestasis, Acute hepatic fail...	OMIM:256810
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Failure to thrive, Polysplenia, Hypoglycemia, Exocri...	OMIM:619418
Heme Oxygenase 1 Deficiency	Increased circulating lactate dehydrogenase concentration, Increased circulating ferritin concent...	OMIM:614034
Mitochondrial Trifunctional Protein Deficiency 1	Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce...	OMIM:609015
Anemia, Hypochromic Microcytic, With Iron Overload 2	Increased circulating ferritin concentration, Splenomegaly, Elevated hepatic iron concentration, ...	OMIM:615234
Meckel Syndrome, Type 3	Malformation of the hepatic ductal plate, Hepatic fibrosis, Bile duct proliferation, Hepatomegaly	OMIM:607361
Congenital Rubella Syndrome	Type I diabetes mellitus, Intrauterine growth retardation, Splenomegaly, Hepatomegaly, Jaundice, ...	ORPHA:290
Beta-Thalassemia	Cholelithiasis, Hepatitis, Splenomegaly, Hepatomegaly, Abnormality of iron homeostasis	ORPHA:848
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	ORPHA:26793
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Hepatitis, Increased circulating ferritin concentration, Splenomegaly, Hepatomega...	OMIM:194380
Congenital Disorder Of Glycosylation, Type Iil	Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration...	OMIM:614576
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehydrogenase level in blood	OMIM:300908
Isolated Thyroid-Stimulating Hormone Deficiency	Abnormal circulating thyroglobulin concentration, Lethargy, Neonatal hyperbilirubinemia, Hypercho...	ORPHA:90674
Secondary Short Bowel Syndrome	Failure to thrive, Cholestasis, Low plasma citrulline, Weight loss, Steatorrhea, Abnormal blood i...	ORPHA:95427
Acquired Generalized Lipodystrophy	Insulin resistance, Abnormal circulating lipid concentration, Insulin-resistant diabetes mellitus...	ORPHA:79086
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Pancreatitis, Hyperammonemia, Growth delay	ORPHA:289916
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Hepa...	OMIM:201475
Aredyld Syndrome	Type I diabetes mellitus, Intrauterine growth retardation, Type II diabetes mellitus, Splenomegal...	ORPHA:1133
Rh Deficiency Syndrome	Hyperbilirubinemia, Reduced haptoglobin level	ORPHA:71275
Anemia, Congenital Dyserythropoietic, Type Iv	Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Reduced haptoglobin level	OMIM:613673
Gaucher Disease Type 1	Splenic infarction, Elevated circulating CCL18 level, Cholelithiasis, Hepatic failure, Growth del...	ORPHA:77259
Farber Lipogranulomatosis	Hepatomegaly, Decreased acid ceramidase activity, Splenomegaly, Failure to thrive	OMIM:228000
Reynolds Syndrome	Elevated circulating hepatic transaminase concentration, Biliary cirrhosis, Cholestasis, Hyperbil...	OMIM:613471
Overhydrated Hereditary Stomatocytosis	Hyperbilirubinemia	OMIM:185000
Dehydrated Hereditary Stomatocytosis	Increased total bilirubin, Neonatal hyperbilirubinemia, Abnormal blood potassium concentration, I...	ORPHA:3202
Griscelli Syndrome	Hepatitis, Abnormal circulating lipid concentration, Ascites, Splenomegaly, Hepatomegaly, Jaundic...	ORPHA:381
Leishmaniasis	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Splenomegaly, Weight lo...	ORPHA:507
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia	OMIM:170400
Hurler-Scheie Syndrome	Hepatomegaly, Short stature, Splenomegaly	ORPHA:93476
Congenital Pulmonary Lymphangiectasia	Ascites, Hepatomegaly, Growth delay, Splenomegaly	ORPHA:2414
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatic fibrosis, Failure to thrive, Exocrine pancreatic insufficiency, Postnatal growth retardat...	OMIM:616263
Neutral Lipid Storage Disease With Ichthyosis	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Abnormal circula...	ORPHA:98907
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Splenomegaly, Failure to thrive	OMIM:618495
Diffuse Neonatal Hemangiomatosis	Ascites, Hepatomegaly, Hypercalcemia	ORPHA:2123
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Neonatal hyperbilirubinemia	ORPHA:73272
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Hypoalbuminemia, Elevated circulating hepatic transaminase concentrati...	ORPHA:540
Fucosidosis	Hepatomegaly, Abnormality of the gallbladder, Cardiomegaly, Failure to thrive	ORPHA:349
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Hypomagnesemia	ORPHA:564178
Hereditary Spherocytosis	Hyperbilirubinemia, Ataxia	ORPHA:822
Combined Oxidative Phosphorylation Deficiency 53	Hepatomegaly, Short stature, Elevated circulating C-reactive protein concentration, Failure to th...	OMIM:619423
Familial Partial Lipodystrophy, Dunnigan Type	Insulin resistance, Splenomegaly, Hepatic steatosis, Pancreatitis, Hypertriglyceridemia, Hepatome...	ORPHA:2348
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating acylcarnitine concentration, Hepatic failure, Hypoketotic hypoglycemia, Decr...	ORPHA:157
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Inability to walk, Hyperkalemia, Conjugated hyperbilirubinemia, Ataxia	OMIM:608885
Pituitary Hormone Deficiency, Combined, 6	Hyperbilirubinemia	OMIM:613986
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic...	ORPHA:562639
Liddle Syndrome	Hypokalemia	ORPHA:526
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Microvesicular hepatic steatos...	OMIM:619377
Combined Oxidative Phosphorylation Deficiency 4	Hepatomegaly, Intrauterine growth retardation, Hyperammonemia	OMIM:610678
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia, Aspiration pneumonia	ORPHA:95232
Propionic Acidemia	Failure to thrive, Hypoglycemia, Propionyl-CoA carboxylase deficiency, Hyperglycinemia, Hyperammo...	OMIM:606054
Symptomatic Form Of Hfe-Related Hemochromatosis	Increased circulating ferritin concentration, Hyperglycemia, Portal hypertension, Splenomegaly, C...	ORPHA:465508
Renal Hypoplasia, Bilateral	Hyponatremia, Hyperkalemia, Small for gestational age, Failure to thrive	ORPHA:97362
Primary Sclerosing Cholangitis	Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
Carnitine-Acylcarnitine Translocase Deficiency	Reduced tissue carnitine-acylcarnitine translocase activity, Elevated circulating hepatic transam...	OMIM:212138
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia, Weight loss	OMIM:188580
Graft Versus Host Disease	Pneumonia, Hyperbilirubinemia	ORPHA:39812
Diarrhea 1, Secretory Chloride, Congenital	Failure to thrive, Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level	OMIM:214700
Classic Hodgkin Lymphoma	Hepatomegaly, Weight loss, Splenomegaly	ORPHA:391
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Hypomagnesemia, Obesity, Weight loss, Transient hypophosphatemia, Hyperkale...	ORPHA:79102
Beta-Thalassemia Intermedia	Abnormality of iron homeostasis, Cholelithiasis, Decreased liver function, Hepatosplenomegaly, Ab...	ORPHA:231222
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Mildly elevated creatine kinase	ORPHA:681
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypokalemia, Failure to thrive	OMIM:602722
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Hyperkalemia, Failure to thrive, Increased circulating renin level	ORPHA:90791
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated circulating hepatic transaminase concentration, Failure to thrive, Splenomegaly, Hypertr...	OMIM:617591
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hypokalemia, Hyperamylasemia	OMIM:604278
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly, Increased serum zinc	OMIM:601979
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hyperbilirubinemia, Hyperalaninemia, Hyperuricemia	ORPHA:348
Desmoplastic Small Round Cell Tumor	Ascites, Cachexia, Weight loss, Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pan...	ORPHA:83469
Apparent Mineralocorticoid Excess	Hypokalemia, Hypertensive retinopathy, Failure to thrive, Decreased circulating renin level	ORPHA:320
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating acylcarnitine concentration, Hepatic failure, Hypoketotic hypoglycemia, Decr...	ORPHA:228308
Hypothyroidism, Congenital, Nongoitrous, 2	Lethargy, Hyperbilirubinemia, Increased circulating thyroglobulin concentration	OMIM:218700
Gaisböck Syndrome	Obesity, Cholecystitis, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinem...	ORPHA:90041
Mcleod Syndrome	Elevated gamma-glutamyltransferase level, Increased circulating lactate dehydrogenase concentrati...	OMIM:300842
Argininosuccinic Aciduria	Hepatic fibrosis, Failure to thrive, Elevated circulating aspartate aminotransferase concentratio...	OMIM:207900
Renal-Hepatic-Pancreatic Dysplasia 2	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg...	OMIM:615415
Immunodeficiency 7	Hepatomegaly, Splenomegaly, Failure to thrive	OMIM:615387
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Growth delay, Intrauterine growth retardation, Splenomegaly, Hepatomegaly, Short stature	OMIM:618541
Immunodeficiency 32B	Hepatomegaly, Splenomegaly, Failure to thrive, Hypoalbuminemia	OMIM:226990
Methylmalonic Aciduria, Cblb Type	Failure to thrive, Hypoglycemia, Elevated circulating propionylcarnitine concentration, Decreased...	OMIM:251110
Rett Syndrome	Failure to thrive, Hyperammonemia, Cholecystitis, Increased serum pyruvate, Growth delay	ORPHA:778
Neuroleptic Malignant Syndrome	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kin...	ORPHA:94093
Renal-Hepatic-Pancreatic Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole...	OMIM:208540
Tyrosinemia, Type I	Hypermethioninemia, Elevated circulating alpha-fetoprotein concentration, Hepatic failure, Elevat...	OMIM:276700
Acute Adrenal Insufficiency	Failure to thrive, Hyperuricemia, Hyponatremia, Weight loss, Hyperkalemia, Hypercalcemia, Increas...	ORPHA:95409
Prolidase Deficiency	Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, P...	OMIM:170100
Lipodystrophy, Familial Partial, Type 2	Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration, Hyperglycemia, Hype...	OMIM:151660
Triploidy	Hepatomegaly, Intrauterine growth retardation, Abnormality of the gallbladder, Abnormality of the...	ORPHA:3376
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t...	ORPHA:159
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Abnormal lung morphology, Diffuse alveolar hemorrhage, Hyperbilirubinemia	ORPHA:464321
Malignant Hyperthermia Of Anesthesia	Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise	ORPHA:423
Familial Glucocorticoid Deficiency	Hyponatremia, Weight loss, Hyperkalemia, Failure to thrive	ORPHA:361
Shwachman-Diamond Syndrome 1	Elevated circulating hepatic transaminase concentration, Failure to thrive, Exocrine pancreatic i...	OMIM:260400
Hereditary Elliptocytosis	Neonatal hyperbilirubinemia, Hyperbilirubinemia	ORPHA:288
Cirrhotic Cardiomyopathy	Abnormal circulating B-type natriuretic peptide concentration, Ascites, Cardiomegaly, Left ventri...	ORPHA:57777
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hypokalemia, Weight loss	OMIM:613239
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Failure to thrive, Splenomegaly, Low alkaline phosphatase, Decreased serum zinc, Hepatomegaly, Sh...	OMIM:201100
Combined Oxidative Phosphorylation Deficiency 12	Failure to thrive, Cholestasis, Elevated circulating aspartate aminotransferase concentration, El...	OMIM:614924
Mirage Syndrome	Hyponatremia, Hyperkalemia, Decreased body weight	OMIM:617053
Lipodystrophy, Congenital Generalized, Type 4	Insulin resistance, Elevated circulating hepatic transaminase concentration, Failure to thrive, H...	OMIM:613327
Corticosteroid-Binding Globulin Deficiency	Hypokalemia, Reduced circulating cortisol-binding globulin concentration	OMIM:611489
Coach Syndrome 1	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Abnormal abdomen morph...	OMIM:216360
Shwachman-Diamond Syndrome 2	Failure to thrive, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Hepatomegaly, Shor...	OMIM:617941
Pseudo-Torch Syndrome 1	Elevated circulating hepatic transaminase concentration, Failure to thrive, Decreased liver funct...	OMIM:251290
Immunodeficiency 40	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:616433
Hereditary Fructose Intolerance	Hypermagnesemia, Reduced circulating aldolase concentration, Reactive hypoglycemia, Hyperuricemia...	ORPHA:469
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Hepatic failure, Decreased liver function, Abnormal circulating lipid concentrati...	ORPHA:77293
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Growth delay, Failure ...	OMIM:615895
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Failure to thrive, Hypoglycemia, Hyperglycinemia, Hyperammonemia, Pancreatitis, Hepatomegaly, Met...	OMIM:251000
Joubert Syndrome 8	Prolonged neonatal jaundice, Hepatomegaly, Obesity	OMIM:612291
Cystic Fibrosis	Biliary cirrhosis, Failure to thrive, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Cirr...	OMIM:219700
Autoinflammation With Arthritis And Dyskeratosis	Failure to thrive, Splenomegaly, Elevated circulating C-reactive protein concentration, Hepatomeg...	OMIM:617388
Bronchial Neuroendocrine Tumor	Hepatomegaly, Hepatic failure, Weight loss, Increased circulating cortisol level	ORPHA:97287
Hypomagnesemia 2, Renal	Hypokalemia, Hypomagnesemia	OMIM:154020
Glutaric Acidemia I	Elevated circulating glutaric acid concentration, Failure to thrive, Hypoglycemia, Hepatomegaly, ...	OMIM:231670
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Splenomegaly	OMIM:618107
Lysinuric Protein Intolerance	Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, Cirrhosis, Hepatome...	ORPHA:470
Trichohepatoenteric Syndrome 1	Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Hypermethioninemia, Increased circulating iro...	OMIM:222470
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Hypocholesterolemia	OMIM:618810
Triosephosphate Isomerase Deficiency	Cholelithiasis, Failure to thrive, Cholecystitis, Splenomegaly, Prolonged neonatal jaundice, Jaun...	OMIM:615512
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Growth delay, Splenomegaly	OMIM:611490
Pearson Marrow-Pancreas Syndrome	Steatorrhea, Lethargy, Hyperbilirubinemia	OMIM:557000
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin-resistant diabetes mellitus, Postnatal growth retardation, Hyperglycemia, Hyperinsulinemi...	OMIM:248370
Congenital Disorder Of Glycosylation, Type Iie	Growth delay, Failure to thrive, Decreased liver function, Hypoglycemia, Elevated circulating asp...	OMIM:608779
Mednik Syndrome	Hepatic fibrosis, Cholestasis, Cirrhosis, Increased circulating very long-chain fatty acid concen...	OMIM:609313
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Cystathioninemia, Failure to thrive, Elevated circulating propionylcarnitine concentration, Decre...	OMIM:277380
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Elevated circulating hepatic transaminase concentr...	ORPHA:309854
Autoimmune Hepatitis	Increased total bilirubin	ORPHA:2137
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Hyperkalemia, Failure to thrive	ORPHA:90790
Cystinosis	Hypophosphatemia, Retinopathy, Failure to thrive, Hypokalemia	ORPHA:213
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hypokalemia, Hypomagnesemia	OMIM:618314
Immunodeficiency 87 And Autoimmunity	Elevated gamma-glutamyltransferase level, Hepatic failure, Cholestasis, Ascites, Elevated circula...	OMIM:619573
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Weight loss, Splenomegaly	ORPHA:33577
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Intrauterine growth retardation,...	OMIM:610199
Senior-Boichis Syndrome	Malformation of the hepatic ductal plate, Hepatic fibrosis, Elevated circulating hepatic transami...	ORPHA:84081
Fructose Intolerance, Hereditary	Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemia, Glycosu...	OMIM:229600
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypoglycemic seizures, Growth delay, Failure to thrive, Hypoglycemia, Xanthelasma, Abnormal circu...	ORPHA:79259
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated circulating glutaric acid concentration, Glycosuria, Hypoglycemia, Hepatic periportal ne...	OMIM:231680
Osteopetrosis, Autosomal Recessive 5	Hyperbilirubinemia, Hypocalcemia	OMIM:259720
Genitopalatocardiac Syndrome	Abnormal mesentery morphology, Intrauterine growth retardation, Abnormality of the gallbladder	ORPHA:2075
Hereditary Cryohydrocytosis With Reduced Stomatin	Conjugated hyperbilirubinemia, Ataxia	ORPHA:168577
Bartter Syndrome, Type 3	Hyperchloriduria, Abnormal choroid morphology, Hypokalemia, Abnormal retinal vascular morphology,...	OMIM:607364
Oculoskeletodental Syndrome	Splenomegaly, Hypocalcemia, Short stature, Hepatomegaly, Hypercalcemia, Small for gestational age	OMIM:618440
Peroxisome Biogenesis Disorder 4A (Zellweger)	Hepatomegaly, Increased circulating very long-chain fatty acid concentration	OMIM:614862
Combined Oxidative Phosphorylation Deficiency 33	Elevated circulating hepatic transaminase concentration, Intrauterine growth retardation, Elevate...	OMIM:617713
Peroxisome Biogenesis Disorder 5A (Zellweger)	Elevated circulating phytanic acid concentration, Lethargy, Increased circulating very long-chain...	OMIM:614866
Beta-Thalassemia Major	Hepatic fibrosis, Abnormality of iron homeostasis, Failure to thrive in infancy, Hepatosplenomega...	ORPHA:231214
Diaphanospondylodysostosis	Intrauterine growth retardation, Disproportionate short-trunk short stature, Enlarged kidney, Abn...	OMIM:608022
Hyperaldosteronism, Familial, Type Iii	Hypokalemia, Decreased circulating renin level	OMIM:613677
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Splenomegaly	OMIM:620296
Mirizzi Syndrome	Hyperbilirubinemia	ORPHA:521219
Adult-Onset Still Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Abnormal circulating lipid co...	ORPHA:829
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Hyperbilirubinemia, Cirrhosi...	OMIM:301068
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis	OMIM:275630
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly	ORPHA:85414
Alstrom Syndrome	Elevated circulating hepatic transaminase concentration, Insulin-resistant diabetes mellitus, Dec...	OMIM:203800
Q Fever	Elevated circulating hepatic transaminase concentration, Hepatitis, Hepatosplenomegaly, Abnormali...	ORPHA:781
Glycogen Storage Disease Ic	Hypoglycemia, Xanthelasma, Chronic pancreatitis, Hyperlipidemia, Hyperuricemia, Hepatoblastoma, D...	OMIM:232240
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hypokalemia, Failure to thrive	OMIM:611590
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Splenomegaly	ORPHA:163596
Tafro Syndrome	Increased circulating lactate dehydrogenase concentration, Ascites, Hepatosplenomegaly, Splenomeg...	ORPHA:457077
Addison Disease	Failure to thrive, Hyperuricemia, Hyponatremia, Weight loss, Hyperkalemia, Hypercalcemia, Increas...	ORPHA:85138
Renal Tubular Acidosis Iii	Hypokalemia	OMIM:267200
Niemann-Pick Disease, Type C1	Fetal ascites, Splenomegaly, Fatal liver failure in infancy, Prolonged neonatal jaundice, Low cho...	OMIM:257220
Primary Triglyceride Deposit Cardiomyovasculopathy	Abnormal circulating enzyme concentration or activity, Hyperlipidemia, Splenomegaly, Elevated cir...	ORPHA:565612
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatitis, Decreased li...	ORPHA:415
Peutz-Jeghers Syndrome	Pancreatic adenocarcinoma, Biliary tract neoplasm, Abnormality of the gallbladder, Enlarged polyc...	ORPHA:2869
Immunodeficiency With Hyper-Igm, Type 1	Hepatitis, Failure to thrive, Splenomegaly, Sclerosing cholangitis, Cirrhosis, Chronic hepatitis,...	OMIM:308230
Reynolds Syndrome	Hepatomegaly, Jaundice, Cirrhosis, Ascites	ORPHA:779
Hypocalcemic Vitamin D-Dependent Rickets	Failure to thrive, Postnatal growth retardation, Elevated alkaline phosphatase of bone origin, Sp...	ORPHA:289157
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Recurrent respiratory infections, Conjugated hyperbilirubinemia, Pulmonary hypoplasia	OMIM:208500
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Abnormal circulating cholesterol concentration, Failure to thrive, Hyponatremia, Hyperkalemia, In...	ORPHA:168558
Wilson Disease	Hypouricemia, Hypoalbuminemia, Hyperbilirubinemia, Increased circulating copper concentration, De...	OMIM:277900
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Increased circulating lactate dehydrogenase concentration, Failure to thrive, Abnormal circulatin...	ORPHA:308552
Pearson Syndrome	Postnatal growth retardation, Hepatic steatosis, Hypophosphatemia, Hepatomegaly, Hypoplastic sple...	ORPHA:699
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Cachexia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Unconjugated hyperbilirubinemia, Recurrent respiratory infections, Pulmonary fibrosis, Atelectasis	OMIM:618278
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Abnormal circulating cholesterol concentration, Failure to thrive, Hyponatremia, Hyperkalemia, In...	ORPHA:289548
East Syndrome	Hypokalemia, Increased circulating renin level, Hypomagnesemia	ORPHA:199343
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated circulating hepatic transaminase concentration, Ascites, Failure to thrive in infancy, H...	ORPHA:79124
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Splenomegaly, Cardiomegaly, Hepatomegaly, Jaundice	OMIM:603903
Ectopic Aldosterone-Producing Tumor	Hypokalemia, Decreased circulating renin level	ORPHA:231632
Peroxisome Biogenesis Disorder 1B	Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hyperoxaluria	OMIM:601539
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Weight loss	ORPHA:100080
Methylmalonic Aciduria, Cbla Type	Failure to thrive, Decreased methylmalonyl-CoA mutase activity, Hyperglycinemia, Hyperammonemia, ...	OMIM:251100
Lysosomal Acid Lipase Deficiency	Failure to thrive, Hyponatremia, Cachexia, Weight loss, Hypercholesterolemia, Hypertriglyceridemi...	ORPHA:275761
Hemophagocytic Syndrome Associated With An Infection	Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra...	ORPHA:158048
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Unconjugated hyperbilirubinemia, Emphysema, Hypocalcemia, Abnormal pulmonary int...	OMIM:613658
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Failure to thrive, Cholestasis, Eleva...	OMIM:620376
Lipodystrophy, Congenital Generalized, Type 1	Elevated circulating hepatic transaminase concentration, Hyperinsulinemia, Hepatic steatosis, Spl...	OMIM:608594
Leprechaunism	Postprandial hyperglycemia, Insulin resistance, Failure to thrive, Hyperaldosteronism, Postnatal ...	ORPHA:508
Familial Isolated Restrictive Cardiomyopathy	Hepatomegaly, Postnatal growth retardation	ORPHA:75249
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Hepatic cysts, Splenomegaly, Hepatome...	OMIM:263200
X-Linked Intellectual Disability, Nascimento Type	Peripheral pulmonary artery stenosis, Neonatal hyperbilirubinemia, Recurrent respiratory infections	ORPHA:163956
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hypokalemia, Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypo...	ORPHA:90038
Isolated Complex I Deficiency	Failure to thrive, Hypoglycemia, Intrauterine growth retardation, Hepatomegaly, Increased serum p...	ORPHA:2609
Hyperparathyroidism, Neonatal Severe	Failure to thrive, Splenomegaly, Hypophosphatemia, Calcinosis, Hepatomegaly, Hypercalcemia	OMIM:239200
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Failure to thrive in infancy, Elevated circulating C-reactive protein concentration...	OMIM:612852
Autosomal Recessive Polycystic Kidney Disease	Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Hypersplenism, Congeni...	ORPHA:731
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperbilirubinemia, Hypocalcemia	ORPHA:163979
Omenn Syndrome	Hepatomegaly, Hypoproteinemia, Splenomegaly, Failure to thrive	OMIM:603554
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Reduced tissue fructose-1,6-bisphosphatase activity, Hypoglycemia	OMIM:229700
Ogden Syndrome	Peripheral pulmonary artery stenosis, Hyperbilirubinemia, Pulmonary edema, Pulmonary artery steno...	OMIM:300855
Lipodystrophy, Congenital Generalized, Type 2	Elevated circulating hepatic transaminase concentration, Hyperinsulinemia, Type II diabetes melli...	OMIM:269700
Ethylene Glycol Poisoning	Hyperkalemia, Hypocalcemia	ORPHA:31826
Romano-Ward Syndrome	Hypokalemia	ORPHA:101016
Immunodeficiency 92	Hepatomegaly, Cholangitis, Sclerosing cholangitis	OMIM:619652
Niemann-Pick Disease, Type C2	Fetal ascites, Splenomegaly, Hepatomegaly, Low cholesterol esterification rate, Prolonged neonata...	OMIM:607625
Transketolase Deficiency	Hepatomegaly, Type I diabetes mellitus, Elevated circulating ribitol concentration, Proportionate...	ORPHA:488618
Myelofibrosis	Hepatomegaly, Splenomegaly	OMIM:254450
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Broad-based gait, Falls, Tip-toe gait, Hyperbilirubinemia, Ataxia	OMIM:619475
Colchicine Poisoning	Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con...	ORPHA:31824
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Failure to thrive, Hypokalemia, Hyponatremia, Hypochloremia	OMIM:613090
Sickle Cell Anemia	Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration	ORPHA:232
Cranioectodermal Dysplasia 2	Recurrent pneumonia, Hyperbilirubinemia	OMIM:613610
Primary Unilateral Adrenal Hyperplasia	Hypokalemia, Decreased circulating renin level	ORPHA:231580
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Hyperkalemia	OMIM:201810
Familial Hyperaldosteronism Type Ii	Hypokalemia	ORPHA:404
Familial Hyperaldosteronism Type I	Hypokalemia	ORPHA:403
Fanconi Renotubular Syndrome 1	Hypokalemia, Hypophosphatemia	OMIM:134600
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Type I diabetes mellitus, Growth delay, Splenomegaly	OMIM:301078
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Cholelithiasis, Hypoglycemia, Hepatosplenomegaly, Obesity, Cholecystitis, Hepatomegaly	OMIM:301066
Paroxysmal Nocturnal Hemoglobinuria	Decreased circulating iron concentration, Reduced haptoglobin level, Lethargy, Increased blood ur...	ORPHA:447
Porphyria, Congenital Erythropoietic	Cholelithiasis, Elevated circulating uroporphyrin concentration, Reduced erythrocyte uroporphyrin...	OMIM:263700
Congenital Tricuspid Valve Dysplasia	Intrauterine growth retardation, Right ventricular hypertrophy, Cardiomegaly, Hepatomegaly, Small...	ORPHA:555874
Vacterl/Vater Association	Intrauterine growth retardation, Abnormality of the gallbladder, Abnormality of the pancreas	ORPHA:887
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis,...	OMIM:203700
Yellow Fever	Elevated circulating creatinine concentration, Hyperbilirubinemia, Elevated circulating creatine ...	ORPHA:99829
Exercise-Induced Malignant Hyperthermia	Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration	ORPHA:466650
Juvenile Polyposis Syndrome	Hypoalbuminemia, Failure to thrive, Hypokalemia	OMIM:174900
Infantile Nephropathic Cystinosis	Pigmentary retinopathy, Failure to thrive, Hypokalemia, Hypophosphatemia, Abnormal blood ion conc...	ORPHA:411629
Hemorrhagic Fever-Renal Syndrome	Elevated circulating creatinine concentration, Hyperkalemia, Hyperphosphatemia, Decreased body we...	ORPHA:340
Lysinuric Protein Intolerance	Failure to thrive, Increased circulating ferritin concentration, Splenomegaly, Hyperammonemia, Pa...	OMIM:222700
Mosaic Trisomy 9	Asplenia, Intrauterine growth retardation, Abnormal liver lobulation	ORPHA:99776
Neurooculorenal Syndrome	Decreased circulating cortisol level, Conjugated hyperbilirubinemia	OMIM:620305
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Hypokalemia, Decreased circulating renin level	ORPHA:231625
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Hepatitis, Intrauterine growth retardation, Splenomegaly, Elevated circulating C-reactive protein...	OMIM:620565
Congenital Erythropoietic Porphyria	Unconjugated hyperbilirubinemia, Abnormal circulating porphyrin concentration, Reduced haptoglobi...	ORPHA:79277
Degcags Syndrome	Pneumonia, Hyperbilirubinemia	OMIM:619488
Syndromic Diarrhea	Hepatic fibrosis, Abnormality of the liver, Intrauterine growth retardation, Splenomegaly, Hepato...	ORPHA:84064
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hypoalbuminemia, Pulmonary artery dilatation, Increased circulating ferritin concentration, Eleva...	OMIM:619534
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hyperkalemia, Hypocalcemia	ORPHA:544482
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hepatic sinusoidal dilatation, Splenic cyst, Decreased body weight, Cardiomegaly, Pancreatitis, S...	OMIM:620371
Familial Hyperaldosteronism Type Iii	Hypokalemia	ORPHA:251274
Metachromatic Leukodystrophy, Late Infantile Form	Cholecystitis	ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form	Cholecystitis	ORPHA:309263
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Viral hepatitis, Cholecystitis, Cholangitis, Diabetes mellitus, Liver abscess	ORPHA:183675
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Hypokalemia, Decreased circulating renin level	OMIM:615474
Bartter Syndrome Type 4	Failure to thrive, Hypomagnesemia, Increased circulating renin level, Hypokalemia, Severe failure...	ORPHA:89938
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypokalemia, Increased circulating renin level, Hypomagnesemia	OMIM:612780
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Unconjugated hyperbilirubinemia, Recurrent respiratory infections	OMIM:620186
Cholera	Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia	ORPHA:173
Juvenile Nephropathic Cystinosis	Hypouricemia, Failure to thrive, Elevated circulating creatinine concentration, Hypocalcemic teta...	ORPHA:411634
Metachromatic Leukodystrophy, Adult Form	Neoplasm of the gallbladder, Cholecystitis	ORPHA:309271
Gitelman Syndrome	Hypokalemia, Increased circulating renin level, Failure to thrive, Hypomagnesemia	OMIM:263800
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Optic atrophy, Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis	OMIM:617913
Igg4-Related Kidney Disease	Decreased retinol-binding protein level, Decreased liver function, Abnormal mesentery morphology,...	ORPHA:449395
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Failure to thrive, Hypomagnesemia, Increased ...	OMIM:601678
Pituitary Adenoma 4, Acth-Secreting	Hypokalemia, Obesity, Abdominal obesity	OMIM:219090
Cystinosis, Nephropathic	Pigmentary retinopathy, Decreased circulating carnitine concentration, Failure to thrive, Retinal...	OMIM:219800
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Failure to thrive, Hyponatremia, Weight loss, Hyperkalemia, Hypochloremia	ORPHA:90794
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hyperbilirubinemia	OMIM:210710
Adrenocortical Carcinoma	Increased body weight, Weight loss, Hypokalemia	ORPHA:1501
Mercury Poisoning	Hypokalemia	ORPHA:330021
Helix Syndrome	Hypokalemia, Hypermagnesemia	OMIM:617671
Sarcoidosis	Hepatic failure, Decreased liver function, Portal hypertension, Abnormal liver parenchyma morphol...	ORPHA:797
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Hypokalemia	ORPHA:369929
Listeriosis	Cholecystitis, Peritonitis, Hepatic granulomatosis, Splenic abscess, Jaundice, Liver abscess	ORPHA:533
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Splenomegaly, Failure to thrive	OMIM:612132
Congenital Disorder Of Glycosylation, Type Iim	Neonatal hyperbilirubinemia	OMIM:300896
Kawasaki Disease	Hypoalbuminemia, Hepatitis, Cholecystitis, Elevated circulating C-reactive protein concentration,...	ORPHA:2331
Crimean-Congo Hemorrhagic Fever	Hepatic failure, Increased circulating lactate dehydrogenase concentration, Ascites, Cholecystiti...	ORPHA:99827
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Failure to thrive, Hypokalemia, Hyponatremia, Hypochloremia	OMIM:602522
Primary Fanconi Renotubular Syndrome	Hypouricemia, Decreased circulating carnitine concentration, Hypophosphatemic rickets, Hypokalemi...	ORPHA:3337
Wolf-Hirschhorn Syndrome	Intrauterine growth retardation, Abnormality of the gallbladder, Failure to thrive, Abdominal sit...	ORPHA:280
Rabson-Mendenhall Syndrome	Hypokalemia, Increased C-peptide level, Retinopathy	ORPHA:769
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Failure to thrive, Hypomagnesemia, Increased ...	OMIM:241200
Smith-Lemli-Opitz Syndrome	Rhizomelia, Intrauterine growth retardation, Abnormality of the gallbladder, Elevated circulating...	ORPHA:818
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Hypokalemia, Decreased circulating renin level	ORPHA:90795
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Hypokalemia, Failure to thrive, Decreased circulating renin level	ORPHA:90793
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Hyperkalemia, Small for gestational age, Decreased circulating renin level	OMIM:201750
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypokalemia, Decreased circulating renin level	OMIM:202010
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hypokalemia, Hyponatremia, Failure to thrive	OMIM:618426
Andersen Cardiodysrhythmic Periodic Paralysis	Hypokalemia	OMIM:170390
Hereditary Hemorrhagic Telangiectasia	Cholelithiasis, Hepatic failure, Portal hypertension, Cholecystitis, Hepatic arteriovenous malfor...	ORPHA:774
Nelson Syndrome	Hypokalemia, Optic nerve compression	ORPHA:199244
Oculocerebrorenal Syndrome Of Lowe	Failure to thrive, Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Hypoammonem...	ORPHA:534
Gitelman Syndrome	Hypermagnesemia, Failure to thrive, Hypomagnesemia, Hypocalcemia, Hypokalemia	ORPHA:358
Distal Renal Tubular Acidosis	Hypokalemia, Failure to thrive	ORPHA:18
Marburg Hemorrhagic Fever	Hypoalbuminemia, Elevated circulating creatinine concentration, Hyperamylasemia, Hyperammonemia, ...	ORPHA:99826
Scorpion Envenomation	Hypokalemia, Increased circulating creatine kinase MB isoform, Increased circulating NT-proBNP co...	ORPHA:466677
Pmm2-Cdg	Hypoalbuminemia, Hepatic fibrosis, Insulin resistance, Elevated circulating hepatic transaminase ...	ORPHA:79318
Proximal Renal Tubular Acidosis	Hypokalemia, Failure to thrive, Bicarbonaturia	ORPHA:47159
Generalized Glucocorticoid Resistance Syndrome	Hypokalemia	ORPHA:786
Tsh-Secreting Pituitary Adenoma	Hypokalemia, Weight loss	ORPHA:91347
Vascular Ehlers-Danlos Syndrome	Hypokalemia	ORPHA:286

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Abcb11

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Abcb11.

No publications found that use IMPC mice or data for Abcb11.

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MGI Allele	Allele Type	Produced
Abcb11^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Abcb11^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice
Abcb11^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Abcb11^{tm27268(L1L2_gt1)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Abcb11 MGI:1351619

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Electrocardiogram (ECG)

X-ray

X-ray

Human diseases caused by Abcb11 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data