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Gene: Abcb11 MGI:1351619

Gene Summary

Name:

ATP-binding cassette, sub-family B (MDR/TAP), 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
abnormal lung morphology	Abcb11^{tm1b(EUCOMM)Hmgu}	HET	Early adult	0.00
decreased circulating triglyceride level	Abcb11^{tm1b(EUCOMM)Hmgu}	HET	Early adult	3.05×10^-05
increased circulating fructosamine level	Abcb11^{tm1b(EUCOMM)Hmgu}	HET	Early adult	8.83×10^-12
increased circulating bilirubin level	Abcb11^{tm1b(EUCOMM)Hmgu}	HET	Early adult	0.00
increased circulating aspartate transaminase level	Abcb11^{tm1b(EUCOMM)Hmgu}	HET	Early adult	7.31×10^-05
increased circulating alkaline phosphatase level	Abcb11^{tm1a(EUCOMM)Hmgu}	HOM	Early adult	2.10×10^-05
increased lean body mass	Abcb11^{tm1a(EUCOMM)Hmgu}	HOM	Early adult	1.14×10^-05
increased circulating potassium level	Abcb11^{tm1a(EUCOMM)Hmgu}	HOM	Early adult	4.20×10^-10
increased circulating alkaline phosphatase level	Abcb11^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.68×10^-19
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
decreased locomotor activity	Abcb11^{tm1b(EUCOMM)Hmgu}	HET	Early adult	3.24×10^-06
abnormal retina morphology	Abcb11^{tm1a(EUCOMM)Hmgu}	HOM	Early adult	1.26×10^-07
increased circulating unsaturated transferrin level	Abcb11^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.78×10^-11

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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.

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

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Electrocardiogram (ECG)

Waveform Image

34 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 (691 diseases)

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

Disease	Matching phenotypes	Source
Cholestasis, Progressive Familial Intrahepatic, 2	Intermittent jaundice, Cirrhosis, Short stature, Hepatocellular carcinoma, Intrahepatic cholestas...	OMIM:601847
Cholestasis, Benign Recurrent Intrahepatic, 2	Jaundice, Intrahepatic cholestasis, Elevated circulating alkaline phosphatase concentration, Hepa...	OMIM:605479
Intrahepatic Cholestasis Of Pregnancy	Abnormality of the pancreas, Small for gestational age, Jaundice, Hyperbilirubinemia, Elevated he...	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	Hepatic failure, Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Steatorrhea, Intrah...	OMIM:235555
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglycemia, Hepatomegaly, Hy...	OMIM:232700
Citrullinemia, Type Ii, Neonatal-Onset	Hyperlysinemia, Hyperargininemia, Hypercholesterolemia, Conjugated hyperbilirubinemia, Hyperthreo...	OMIM:605814
Bile Acid Synthesis Defect, Congenital, 1	Hepatic failure, Cirrhosis, Jaundice, Elevated hepatic transaminase, Acholic stools, Steatorrhea,...	OMIM:607765
Bile Acid Synthesis Defect, Congenital, 3	Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Hepatiti...	OMIM:613812
Low Phospholipid-Associated Cholelithiasis	Hypercholesterolemia, Biliary cirrhosis, Liver abscess, Neoplasm of the liver, Sclerosing cholang...	ORPHA:69663
Cholestasis, Progressive Familial Intrahepatic, 2	Intermittent jaundice, Cirrhosis, Short stature, Hepatocellular carcinoma, Intrahepatic cholestas...	OMIM:601847
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Elevated hepatic transaminase, Portal inflammation, Portal fibrosis, Intrahe...	OMIM:602347
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Cholestasis, Progressive Familial Intrahepatic, 6	Periportal fibrosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Elevated circulatin...	OMIM:619484
Cholestasis, Intrahepatic, Of Pregnancy, 1	Jaundice, Elevated hepatic transaminase, Intrahepatic cholestasis, Increased serum bile acid conc...	OMIM:147480
Cholestasis, Benign Recurrent Intrahepatic, 2	Jaundice, Intrahepatic cholestasis, Elevated circulating alkaline phosphatase concentration, Hepa...	OMIM:605479
Cholestasis, Progressive Familial Intrahepatic, 10	Increased total bilirubin, Elevated circulating alanine aminotransferase concentration, Short sta...	OMIM:619868
Cholestasis, Intrahepatic, Of Pregnancy 3	Increased serum bile acid concentration during pregnancy, Jaundice, Abnormal liver function tests...	OMIM:614972
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Fibro-obliterative ...	OMIM:619849
Glycine N-Methyltransferase Deficiency	Hypermethioninemia, Elevated hepatic transaminase, Hepatomegaly	OMIM:606664
Cholestasis, Benign Recurrent Intrahepatic, 1	Intermittent jaundice, Increased serum bile acid concentration, Hepatomegaly, Intrahepatic choles...	OMIM:243300
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Short stature, Elevated hepatic transaminase, Hepatic steatosis, Elevated gamma...	OMIM:614480
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Short stature, Jaundice, Failure to thrive, Hepatomegaly, Cholelithiasis, Intrahepatic...	OMIM:211600
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level	ORPHA:2843
Bile Acid Synthesis Defect, Congenital, 4	Hepatic failure, Hyperbilirubinemia, Elevated hepatic transaminase, Decreased serum bile acid con...	OMIM:214950
Cholestasis, Progressive Familial Intrahepatic, 11	Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino...	OMIM:619874
Cholestasis, Progressive Familial Intrahepatic, 4	Hepatic failure, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Portal hypertension	OMIM:615878
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia, Failure to thrive in infancy, Splenomegaly, Hepatomegaly	OMIM:619175
Caroli Disease	Biliary cirrhosis, Cholangiocarcinoma, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia,...	ORPHA:53035
Crigler-Najjar Syndrome Type 2	Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia	ORPHA:79235
Platelet-Activating Factor Acetylhydrolase Deficiency	Increased level of platelet-activating factor, Platelet-activating factor acetylhydrolase deficiency	OMIM:614278
Congenital Disorder Of Glycosylation, Type Icc	Hepatomegaly	OMIM:301031
Mednik Syndrome	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, In...	ORPHA:171851
Malaria	Hyperbilirubinemia, Gait imbalance, Elevated circulating C-reactive protein concentration	ORPHA:673
Hyperchlorhidrosis, Isolated	Failure to thrive, Hyperkalemia, Hyponatremia	OMIM:143860
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
Crigler-Najjar Syndrome, Type Ii	Unconjugated hyperbilirubinemia	OMIM:606785
Peroxisome Biogenesis Disorder 13A (Zellweger)	Elevated circulating alanine aminotransferase concentration, Jaundice, Increased circulating very...	OMIM:614887
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Hyperbilirubinemia	OMIM:618660
Cholestasis, Progressive Familial Intrahepatic, 12	Elevated circulating alanine aminotransferase concentration, Short stature, Jaundice, Hyperbiliru...	OMIM:620010
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Elevated hepatic transaminase, Elevated circulating alkaline phosphatase con...	OMIM:214900
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly	ORPHA:294
Hyperbilirubinemia, Rotor Type	Conjugated hyperbilirubinemia	OMIM:237450
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Irida Syndrome	Decreased circulating copper concentration, Intrahepatic cholestasis	ORPHA:209981
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	OMIM:237500
Crigler-Najjar Syndrome, Type I	Unconjugated hyperbilirubinemia	OMIM:218800
Congenital Disorder Of Glycosylation, Type Iio	Elevated alkaline phosphatase of bone origin, Hypercholesterolemia, Cirrhosis, Hepatic failure, D...	OMIM:616828
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Cirrhosis, Short stature, Elevated hepatic transaminase, Hepatocellular carcino...	ORPHA:369
Rft1-Cdg	Failure to thrive, Short stature, Hepatomegaly	ORPHA:244310
Congenital Disorder Of Glycosylation, Type It	Elevated circulating alanine aminotransferase concentration, Short stature, Hepatitis, Elevated h...	OMIM:614921
Caroli Syndrome	Cirrhosis, Hepatic failure, Periportal fibrosis, Liver abscess, Hypersplenism, Jaundice, Hyperbil...	ORPHA:480520
Citrullinemia, Type Ii, Adult-Onset	Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Ballooning hepatoc...	OMIM:603471
Edinburgh Malformation Syndrome	Neonatal hyperbilirubinemia	OMIM:129850
Primary Hepatic Neuroendocrine Carcinoma	Intermittent jaundice, Elevated alkaline phosphatase of hepatic origin, Weight loss, Neoplasm of ...	ORPHA:100085
Glycogen Storage Disease Ixa1	Hyperuricemia, Elevated hepatic transaminase, Hypoglycemia, Growth delay, Hepatomegaly, Hyperchol...	OMIM:306000
Somatostatinoma	Intermittent jaundice, Extrahepatic cholestasis, Weight loss, Increased circulating cortisol leve...	ORPHA:97283
Galactose Mutarotase Deficiency	Hypergalactosemia, Abnormal circulating enzyme concentration or activity, Failure to thrive, Chol...	ORPHA:570422
Glycogen Storage Disease Ixc	Cirrhosis, Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglycemia, Bile ...	OMIM:613027
Rotor Syndrome	Hyperbilirubinemia, Conjugated hyperbilirubinemia	ORPHA:3111
Congenital Disorder Of Glycosylation, Type Iip	Decreased circulating ceruloplasmin concentration, Elevated hepatic transaminase, Hepatic steatos...	OMIM:616829
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Elevated circulating alanine aminotransferase concentration, Hyperbilirubinemia, Elevated circula...	OMIM:619685
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly	ORPHA:79281
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating lactate dehydrogenase concentration, Elevated circulating alanine aminotran...	OMIM:605911
Ppoma	Intermittent jaundice, Extrahepatic cholestasis, Weight loss, Increased circulating cortisol leve...	ORPHA:97278
Progressive Familial Intrahepatic Cholestasis	Short stature, Jaundice, Failure to thrive, Cholestasis, Hepatomegaly, Hypocalcemia, Splenomegaly	ORPHA:172
Crigler-Najjar Syndrome Type 1	Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia	ORPHA:79234
Cholesteryl Ester Storage Disease	Hepatic failure, Cirrhosis, Jaundice, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, S...	ORPHA:75234
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Scleros...	OMIM:619662
Neutral Lipid Storage Disease With Myopathy	Short stature, Elevated hepatic transaminase, Elevated circulating creatine kinase concentration,...	OMIM:610717
Red Cell Phospholipid Defect With Hemolysis	Hyperbilirubinemia	OMIM:179700
Mulibrey Nanism	Short stature, Cachexia, Intrauterine growth retardation, Hepatomegaly	ORPHA:2576
Lipodystrophy, Congenital Generalized, Type 3	Short stature, Insulin resistance, Hepatosplenomegaly, Hepatic steatosis, Diabetes mellitus, Hepa...	OMIM:612526
Galactose Epimerase Deficiency	Weight loss, Jaundice, Growth delay, Hepatomegaly, Splenomegaly	ORPHA:79238
Galactosemia Iii	Hypergalactosemia, Decreased beta-galactosidase activity, Jaundice, Failure to thrive, Hepatomega...	OMIM:230350
Vipoma	Intermittent jaundice, Extrahepatic cholestasis, Weight loss, Increased circulating cortisol leve...	ORPHA:97282
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Elevated hepatic transaminase, Biliary tract abnormality, Neonatal cholestat...	ORPHA:79301
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Jaundice, Elevated...	OMIM:619658
Grfoma	Intermittent jaundice, Extrahepatic cholestasis, Weight loss, Increased circulating cortisol leve...	ORPHA:97261
Gilbert Syndrome	Unconjugated hyperbilirubinemia	OMIM:143500
Exudative Vitreoretinopathy 7	Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal degeneration, Retinal detachment	OMIM:617572
Retinoschisis 1, X-Linked, Juvenile	Retinal pigment epithelial atrophy, Vitreous hemorrhage, Retinal atrophy, Retinal degeneration, M...	OMIM:312700
Morbid Obesity And Spermatogenic Failure	Type II diabetes mellitus, Insulin resistance, Obesity, Hepatic steatosis, Increased LDL choleste...	OMIM:615703
Nphp3-Related Meckel-Like Syndrome	Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology	ORPHA:3032
Gracile Syndrome	Increased circulating ferritin concentration, Increased serum pyruvate, Cholestasis, Intrauterine...	OMIM:603358
Glucagonoma	Intermittent jaundice, Extrahepatic cholestasis, Weight loss, Increased circulating cortisol leve...	ORPHA:97280
Congenital Bile Acid Synthesis Defect Type 2	Hepatic failure, Jaundice, Abnormal serum bile acid concentration, Elevated hepatic transaminase,...	ORPHA:79303
Biliary Atresia, Extrahepatic	Increased total bilirubin, Atretic gallbladder, Cirrhosis, Extrahepatic biliary duct atresia, Unc...	OMIM:210500
Glycogen Storage Disease Iii	Hepatic fibrosis, Short stature, Elevated hepatic transaminase, Elevated circulating creatine kin...	OMIM:232400
Bile Acid Synthesis Defect, Congenital, 5	Hepatic failure, Hepatic fibrosis, Increased total iron binding capacity, Jaundice, Hyperbilirubi...	OMIM:616278
Hepatic Veno-Occlusive Disease	Increased total bilirubin, Jaundice, Elevated hepatic transaminase, Hepatomegaly, Ascites, Increa...	ORPHA:890
Hyperbilirubinemia, Shunt, Primary	Hyperbilirubinemia	OMIM:237800
Niemann-Pick Disease, Type B	Short stature, Decreased acid sphingomyelinase activity, Increased LDL cholesterol concentration,...	OMIM:607616
Gallbladder Disease 1	Hepatic fibrosis, Cholesterol gallstones, Jaundice, Elevated hepatic transaminase, Portal inflamm...	OMIM:600803
Lysosomal Acid Lipase Deficiency	Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Hypercholesterolemia, Splenomegaly, Hepatic ...	OMIM:278000
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia, Hepatomegaly	OMIM:609016
Exudative Vitreoretinopathy 3	Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal exudate, Retinal detachment	OMIM:605750
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Small for gestational age, Jau...	ORPHA:567983
Hemochromatosis, Neonatal	Hepatic failure, Hepatic fibrosis, Cirrhosis, Increased serum iron, Abnormality of iron homeostas...	OMIM:231100
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal cholestatic liver diseas...	ORPHA:1414
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Decreased liver function, In...	OMIM:617093
3-Methylglutaconic Aciduria Type 1	Failure to thrive, Hypoglycemia, Hepatomegaly	ORPHA:67046
Bilateral Striopallidodentate Calcinosis	Abnormality of the liver, Intrauterine growth retardation, Hepatomegaly	ORPHA:1980
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated circulating a...	OMIM:615158
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia	OMIM:609153
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyperkalemia, Increased circulating renin level, Hyponatremia	OMIM:620126
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Decreased plasma fr...	OMIM:619048
Corticosterone Methyloxidase Type Ii Deficiency	Failure to thrive, Hyperkalemia, Increased circulating renin level, Hyponatremia	OMIM:610600
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyperkalemia, Increased circulating renin level, Hyponatremia	OMIM:620125
Familial Drusen	Macular drusen, Hypoautofluorescent macular lesion, Hyperautofluorescent macular lesion, Macular ...	ORPHA:75376
X-Linked Retinal Dysplasia	Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology	ORPHA:1852
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Increased total bilirubin	OMIM:174050
Farber Disease	Hepatic fibrosis, Hepatic failure, Short stature, Elevated hepatic transaminase, Abnormal circula...	ORPHA:333
Corticosterone Methyloxidase Type I Deficiency	Failure to thrive, Hyperkalemia, Increased circulating renin level, Hyponatremia	OMIM:203400
Lathosterolosis	Hepatic failure, Intrahepatic cholestasis, Failure to thrive, Hepatomegaly, Intrauterine growth r...	ORPHA:46059
Systemic Primary Carnitine Deficiency	Elevated hepatic transaminase, Hepatomegaly	ORPHA:158
Peroxisome Biogenesis Disorder 8A (Zellweger)	Jaundice, Elevated circulating aspartate aminotransferase concentration, Hepatomegaly	OMIM:614876
Bile Acid Conjugation Defect 1	Elevated circulating alanine aminotransferase concentration, Hepatic failure, Jaundice, Elevated ...	OMIM:619232
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Increased total bilirubin, Hepatic failure, Jaundice, Elevated hepatic transaminase, Cholestasis,...	OMIM:618528
Hyperkalemic Periodic Paralysis	Hyperkalemia	OMIM:170500
Cog7-Cdg	Small for gestational age, Jaundice, Elevated hepatic transaminase, Hepatosplenomegaly, Elevated ...	ORPHA:79333
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Large for gestational age, Hepatomegaly	ORPHA:2432
Megaloblastic Anemia, Folate-Responsive	Hyperbilirubinemia, Hyperhomocystinemia, Increased circulating ferritin concentration	OMIM:601775
Isolated Polycystic Liver Disease	Increased total bilirubin	ORPHA:2924
Galactokinase Deficiency	Hyperinsulinemia, Hypergalactosemia, Increased level of galactitol in plasma, Small for gestation...	ORPHA:79237
Hemochromatosis, Type 2B	Hepatic fibrosis, Cirrhosis, Increased serum iron, Elevated transferrin saturation, Elevated hepa...	OMIM:613313
Glycogen Storage Disease Ixb	Hyperuricemia, Short stature, Increased hepatic glycogen content, Hypoglycemia, Growth delay, Hep...	OMIM:261750
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Periportal fibrosis, Hypersplenism, Jaundice, Hyperbil...	ORPHA:64743
Multiple Symmetric Lipomatosis	Insulin resistance, Hepatomegaly	ORPHA:2398
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hypertriglyceridemia, Hepatomegaly	OMIM:615924
Hemophagocytic Lymphohistiocytosis, Familial, 4	Jaundice, Increased circulating ferritin concentration, Hepatomegaly, Hypertriglyceridemia, Splen...	OMIM:603552
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating C-reactive...	ORPHA:158057
Sclerosing Cholangitis, Neonatal	Biliary cirrhosis, Cirrhosis, Hepatic failure, Sclerosing cholangitis, Jaundice, Acholic stools, ...	OMIM:617394
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia	OMIM:141000
Lathosterolosis	Bilobate gallbladder, Abnormal circulating cholesterol concentration, Hyperbilirubinemia, Elevate...	OMIM:607330
Malignant Hyperthermia, Susceptibility To, 1	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Isolated Biliary Atresia	Atretic gallbladder, Cirrhosis, Periportal fibrosis, Small for gestational age, Jaundice, Elevate...	ORPHA:30391
Tyrosinemia Type 1	Acute hepatic failure, Hepatocellular carcinoma, Splenomegaly, Hepatomegaly	ORPHA:882
Apparent Mineralocorticoid Excess	Small for gestational age, Decreased circulating renin level, Hypokalemia, Failure to thrive, Hyp...	OMIM:218030
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Jaundice, Steatorrhea, Failure to thrive, Hepatomegaly, Exocrine pancreatic insufficiency, Spleno...	OMIM:612714
Budd-Chiari Syndrome	Cirrhosis, Weight loss, Jaundice, Elevated hepatic transaminase, Cholecystitis, Hepatomegaly, Por...	ORPHA:131
Hyperinsulinism Due To Hnf1A Deficiency	Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Ketotic hypoglycemia, Smal...	ORPHA:324575
Congenital Disorder Of Glycosylation, Type Iir	Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Micronodular cirrhosis, Hepatomegaly,...	OMIM:301045
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated hepatic tra...	ORPHA:247598
Pyruvate Kinase Deficiency Of Red Cells	Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Jaundice, Intrauterine growth retarda...	OMIM:266200
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Failure to thrive, Hyperkalemia, Increased circulating renin level, Hyponatremia	OMIM:177735
Hepatitis, Fulminant Viral, Susceptibility To	Hepatic failure, Fulminant hepatitis, Jaundice, Elevated hepatic transaminase, Type I diabetes me...	OMIM:618549
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Unconjugated hyperbilirubinemia, Elevated transferrin saturation, Increased circulating ferritin ...	ORPHA:766
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly	ORPHA:46532
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Hepatitis, Cholesterol gallstones, Hepatic steatosis, Increased LDL cholest...	ORPHA:209902
Pseudohypoaldosteronism, Type Iia	Hyperkalemia	OMIM:145260
Wolman Disease	Hepatic failure, Cachexia, Steatorrhea, Growth delay, Hepatomegaly, Ascites, Splenomegaly	ORPHA:75233
Liver Disease, Severe Congenital	Peritonitis, Elevated hepatic transaminase, Portal inflammation, Hyperinsulinemic hypoglycemia, E...	OMIM:619991
Congenital Disorder Of Glycosylation, Type Iik	Elevated circulating alanine aminotransferase concentration, Short stature, Elevated circulating ...	OMIM:614727
Apolipoprotein C-Ii Deficiency	Pancreatitis, Decreased circulating apolipoprotein C-II concentration, Hepatomegaly, Hypercholest...	OMIM:207750
Lipoyltransferase 1 Deficiency	Increased total bilirubin, Hyperprolinemia, Hyperglutaminemia	OMIM:616299
Sandhoff Disease	Failure to thrive, Splenomegaly, Hepatomegaly	ORPHA:796
Alpha-1-Antitrypsin Deficiency	Hepatitis, Jaundice, Hepatic failure, Hepatomegaly	ORPHA:60
Immunodeficiency 48	Failure to thrive, Splenomegaly, Hepatomegaly	OMIM:269840
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Neonatal Severe Primary Hyperparathyroidism	Short stature, Splenomegaly, Hepatomegaly	ORPHA:417
Rhizomelic Chondrodysplasia Punctata, Type 2	Disproportionate short stature, Failure to thrive, Decreased circulating plasmalogen concentratio...	OMIM:222765
African Iron Overload	Hepatic fibrosis, Increased circulating cortisol level, Hepatitis, Elevated transferrin saturatio...	ORPHA:139507
Carnitine Palmitoyltransferase I Deficiency	Hypoketotic hypoglycemia, Elevated circulating alanine aminotransferase concentration, Elevated h...	OMIM:255120
Late-Onset Familial Hypoaldosteronism	Failure to thrive, Hyperkalemia, Increased circulating renin level, Hyponatremia	ORPHA:556037
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia	OMIM:614495
Acth Deficiency, Isolated	Fasting hypoglycemia, Jaundice, Decreased circulating cortisol level, Cholestasis	OMIM:201400
Pseudohypoaldosteronism, Type Iic	Decreased circulating renin level, Hyperchloremia, Hyperkalemia	OMIM:614492
Congenital Disorder Of Glycosylation, Type In	Failure to thrive, Short stature, Hepatomegaly	OMIM:612015
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Jaundice...	ORPHA:79302
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypocholesterolemia, Hypersplenism, Splenomegaly, Hepatomegaly	OMIM:610539
Lambert Syndrome	Intrahepatic biliary atresia, Jaundice, Cholestasis, Failure to thrive in infancy, Intrauterine g...	ORPHA:1296
Immunodeficiency 104	Failure to thrive secondary to recurrent infections, Splenomegaly, Hepatomegaly	OMIM:608971
Obesity Due To Prohormone Convertase I Deficiency	Childhood-onset truncal obesity, Hyperinsulinemia, Failure to thrive, Hypoglycemic seizures, Dela...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Childhood-onset truncal obesity, Hyperinsulinemia, Failure to thrive, Hypoglycemic seizures, Dela...	ORPHA:71526
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Type II diabetes mellitus, Jaundice, Elevated hepatic transaminase, Hepatosplenomegaly...	OMIM:616860
Combined Oxidative Phosphorylation Deficiency 34	Hepatic failure, Hepatic steatosis, Failure to thrive, Hypoglycemia, Increased blood urea nitroge...	OMIM:617872
Mitochondrial Myopathy, Infantile, Transient	Decreased plasma carnitine, Elevated circulating creatine kinase concentration, Failure to thrive...	OMIM:500009
Benign Recurrent Intrahepatic Cholestasis	Cholelithiasis, Cirrhosis, Weight loss, Jaundice, Hepatocellular carcinoma, Elevated hepatic tran...	ORPHA:65682
Hyperlipoproteinemia, Type Id	Recurrent pancreatitis, Splenomegaly, Decreased LDL cholesterol concentration, Failure to thrive,...	OMIM:615947
Idiopathic Congenital Hypothyroidism	Lethargy, Neonatal hyperbilirubinemia	ORPHA:95717
Harderoporphyria	Neonatal hyperbilirubinemia, Increased circulating ferritin concentration	OMIM:618892
Hypermanganesemia With Dystonia 1	Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubinemia, Steppa...	OMIM:613280
Nephronophthisis 19	Hepatic fibrosis, Malformation of the hepatic ductal plate, Bile duct proliferation, Cholestasis,...	OMIM:616217
Fanconi-Bickel Syndrome	Elevated circulating alanine aminotransferase concentration, Hepatic failure, Abnormal hepatic gl...	ORPHA:2088
Hemophagocytic Lymphohistiocytosis, Familial, 1	Increased total bilirubin, Increased VLDL cholesterol concentration, Ataxia, Increased LDL choles...	OMIM:267700
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Hepatocellular ...	ORPHA:370
Hemochromatosis, Type 4	Cirrhosis, Impaired glucose tolerance, Elevated transferrin saturation, Hepatic steatosis, Diabet...	OMIM:606069
Hypermethioninemia Due To Adenosine Kinase Deficiency	Hypermethioninemia, Hyperbilirubinemia, Elevated circulating creatine kinase concentration	OMIM:614300
Lipodystrophy, Familial Partial, Type 1	Acute pancreatitis, Insulin-resistant diabetes mellitus, Hepatomegaly, Hyperglycemia, Hypertrigly...	OMIM:608600
Portal Hypertension, Noncirrhotic, 1	Portal hypertension, Elevated hepatic transaminase, Splenomegaly, Hepatomegaly	OMIM:617068
Galactosemia I	Elevated circulating alanine aminotransferase concentration, Cirrhosis, Increased level of galact...	OMIM:230400
Hemoglobin H Disease	Splenomegaly, Hepatomegaly	OMIM:613978
Early-Onset Familial Hypoaldosteronism	Failure to thrive, Hyperkalemia, Increased circulating renin level, Hyponatremia	ORPHA:556030
Cholestasis, Progressive Familial Intrahepatic, 5	Pleural effusion, Hyperammonemia, Conjugated hyperbilirubinemia, Elevated circulating alpha-fetop...	OMIM:617049
Congenital Toxoplasmosis	Jaundice, Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Ascites, Failure to thrive i...	ORPHA:858
Retinitis Pigmentosa 59	Failure to thrive, Elevated hepatic transaminase, Intrauterine growth retardation, Hepatomegaly	OMIM:613861
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Hepatic steato...	ORPHA:264580
Infantile Liver Failure Syndrome 3	Short stature, Jaundice, Elevated hepatic transaminase, Hepatic bridging fibrosis, Hepatic steato...	OMIM:618641
Lipodystrophy, Familial Partial, Type 5	Increased C-peptide level, Diabetic ketoacidosis, Hepatic steatosis, Hepatomegaly, Hypertriglycer...	OMIM:615238
Lymphoproliferative Syndrome, X-Linked, 2	Hepatitis, Increased circulating ferritin concentration, Hepatomegaly, Hypertriglyceridemia, Sple...	OMIM:300635
Akt2-Related Familial Partial Lipodystrophy	Insulin resistance, Hepatic steatosis, Hyperlipidemia, Hepatomegaly, Insulin-resistant diabetes m...	ORPHA:79085
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly	OMIM:606445
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Weight loss, Splenomegaly, Hepatomegaly	ORPHA:86893
Autosomal Dominant Spastic Paraplegia Type 29	Hyperbilirubinemia	ORPHA:101009
Familial Thyroid Dyshormonogenesis	Abnormal circulating thyroglobulin level, Lethargy, Neonatal hyperbilirubinemia	ORPHA:95716
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Abnormal circulating thyroglobulin level, Conjugated hyperbilirubinemia	ORPHA:95715
Gracile Syndrome	Cirrhosis, Decreased transferrin saturation, Hepatic steatosis, Increased circulating ferritin co...	ORPHA:53693
Hyperbiliverdinemia	Decreased liver function, Elevated circulating biliverdin concentration, Cholestasis, Cholelithiasis	OMIM:614156
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Decreased circulating free...	ORPHA:276575
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Splenomegaly, Hepatomegaly	OMIM:619462
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Failure to thrive, Hyperkalemia, Hyponatremia	OMIM:264350
Dubin-Johnson Syndrome	Abnormality of the liver, Jaundice, Biliary tract abnormality, Hepatomegaly, Conjugated hyperbili...	ORPHA:234
Propionic Acidemia	Hypoglycemia, Hyperammonemia, Propionyl-CoA carboxylase deficiency, Hepatomegaly	ORPHA:35
Cyanosis, Transient Neonatal	Jaundice, Hepatomegaly	OMIM:613977
Glutaric Acidemia Type 3	Lethargy, Elevated circulating glutaric acid concentration, Abnormality of circulating enzyme level	ORPHA:35706
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hyperkalemia	OMIM:614496
Pseudohypoaldosteronism Type 2	Hyperkalemia	ORPHA:757
Combined Oxidative Phosphorylation Deficiency 1	Intrauterine growth retardation, Cholestasis, Hepatomegaly, Fulminant hepatic failure	OMIM:609060
Hypoadrenocorticism, Familial	Hyperkalemia, Hyponatremia	OMIM:240200
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatic failure, Elevated hepatic transaminase, Transient hyperlipidemia, Hypoglycemia, Hepatomegaly	ORPHA:156
Retinitis Pigmentosa 13	Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm...	OMIM:600059
Klatskin Tumor	Extrahepatic cholestasis, Weight loss, Jaundice, Cholangiocarcinoma, Hepatomegaly	ORPHA:99978
Bile Acid Malabsorption, Primary, 2	Elevated circulating alanine aminotransferase concentration, Periportal fibrosis, Decreased circu...	OMIM:619481
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hyperbilirubinemia, Ataxia	ORPHA:713
Hyperinsulinism Due To Ucp2 Deficiency	Hypoketotic hypoglycemia, Increased C-peptide level, Decreased circulating free fatty acid level,...	ORPHA:276556
Disorder Of Bile Acid Synthesis	Elevated hepatic transaminase, Abnormality of the liver, Cholestasis, Biliary tract abnormality	ORPHA:79168
Familial Partial Lipodystrophy, Köbberling Type	Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Pancrea...	ORPHA:79084
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Maternal diabetes, Large f...	ORPHA:276580
Vitamin B12-Responsive Methylmalonic Acidemia	Failure to thrive, Hyperammonemia, Hepatomegaly	ORPHA:28
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal hypertension, Portal vein thrombosis, Splenomegaly, Hepatomegaly	OMIM:610293
Congenital Disorder Of Glycosylation, Type Iij	Cirrhosis, Hepatic failure, Elevated hepatic transaminase, Elevated circulating alkaline phosphat...	OMIM:613489
Mpi-Cdg	Hepatic fibrosis, Abnormal circulating enzyme concentration or activity, Hyperinsulinemic hypogly...	ORPHA:79319
Pyruvate Dehydrogenase E3 Deficiency	Hepatic failure, Decreased plasma carnitine, Elevated hepatic transaminase, Elevated plasma branc...	ORPHA:2394
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hypoketotic hypoglycemia, Elevated hepatic transaminase, Elevated circulating creatine kinase con...	OMIM:600649
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic failure, Hepatic fibrosis, Hepatic bridging fibrosis, Hepatomegaly, Splenomegaly	OMIM:616719
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia	OMIM:613345
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Hyperbilirubinemia, Decreased circulating cortisol level	OMIM:609734
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Ketotic hypoglycemia, Short stature, Elevated ...	ORPHA:79240
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatic failure, Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in ...	OMIM:251880
Combined Oxidative Phosphorylation Deficiency 9	Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Elevated circulatin...	OMIM:614582
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hyperalaninemia, Elevated hepatic transaminase, Hyperprolinemia, Hepatomegaly, Cardiomegaly, Fail...	OMIM:619064
Peroxisome Biogenesis Disorder 3B	Elevated circulating phytanic acid concentration, Steatorrhea, Failure to thrive, Hepatomegaly, H...	OMIM:266510
Liddle Syndrome 3	Hypokalemia	OMIM:618126
Congenital Disorder Of Glycosylation, Type Ib	Hepatic failure, Hepatic fibrosis, Cirrhosis, Steatorrhea, Hyperinsulinemic hypoglycemia, Failure...	OMIM:602579
Citrullinemia Type Ii	Hypercholesterolemia, Hepatic fibrosis, Hypertriglyceridemia, Elevated hepatic transaminase, Hepa...	ORPHA:247585
Alpha-Heavy Chain Disease	Hypocalcemia, Growth delay, Hepatomegaly, Ascites, Splenomegaly	ORPHA:100025
Immunodeficiency 54	Splenomegaly, Short stature, Failure to thrive, Hepatomegaly, Intrauterine growth retardation, Po...	OMIM:609981
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Weight loss, Ascites, Hepatomegaly	ORPHA:2198
Glycogen Storage Disease Vii	Increased total bilirubin, Hyperuricemia	OMIM:232800
Porphyria Cutanea Tarda	Abnormal circulating porphyrin concentration, Periportal fibrosis, Decreased circulating hepcidin...	ORPHA:101330
Dihydrolipoamide Dehydrogenase Deficiency	Elevated hepatic transaminase, Hypoglycemia, Increased serum pyruvate, Hepatomegaly, Decreased li...	OMIM:246900
Generalized Pseudohypoaldosteronism Type 1	Weight loss, Hyperkalemia, Increased circulating renin level, Hyponatremia, Failure to thrive in ...	ORPHA:171876
Pediatric Hepatocellular Carcinoma	Hepatic fibrosis, Hepatic necrosis, Elevated circulating alpha-fetoprotein concentration, Portal ...	ORPHA:33402
Spherocytosis, Type 4	Hyperbilirubinemia	OMIM:612653
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hyperbilirubinemia	OMIM:301083
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Lethargy, Conjugated hyperbilirubinemia...	OMIM:617156
Triokinase And Fmn Cyclase Deficiency Syndrome	Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Hepatomegaly, Fai...	OMIM:618805
Duodenal Neuroendocrine Tumor	Hepatic failure, Extrahepatic cholestasis, Elevated hepatic transaminase, Insulinoma, Intrahepati...	ORPHA:100076
Gaucher Disease, Type Iii	Decreased body weight, Short stature, Decreased beta-glucocerebrosidase level, Hepatomegaly, Sple...	OMIM:231000
Infantile Sialic Acid Storage Disease	Conjugated hyperbilirubinemia	OMIM:269920
Amyloidosis, Familial Visceral	Splenomegaly, Cholestasis, Hepatomegaly	OMIM:105200
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Failure to thrive, Hyperkalemia, Hyponatremia	OMIM:614736
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentration, Increased circul...	OMIM:241150
Hodgkin Lymphoma	Weight loss, Splenomegaly, Hepatomegaly	ORPHA:98293
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Decreased glucosephosphate isomerase level, Jaundice, Cholecystitis, Cholelithiasis, Pigment gall...	OMIM:613470
Wilson Disease	Cirrhosis, Weight loss, Hepatitis, Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Fa...	ORPHA:905
Trichohepatoenteric Syndrome 2	Cirrhosis, Small for gestational age, Decreased serum iron, Failure to thrive, Hepatomegaly, Chro...	OMIM:614602
Peroxisome Biogenesis Disorder 6A (Zellweger)	Decreased liver function, Hepatomegaly	OMIM:614870
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Jaundice, Hyperbilirubinemia, Cholecystitis, Cholelithiasis, Splenomegaly	OMIM:235700
Gallbladder Neuroendocrine Tumor	Intermittent jaundice, Extrahepatic cholestasis, Elevated alkaline phosphatase of hepatic origin,...	ORPHA:100086
Griscelli Syndrome Type 2	Jaundice, Hyperlipidemia, Splenomegaly, Hepatomegaly	ORPHA:79477
Glycogen Storage Disease Xii	Reduced haptoglobin level, Elevated circulating alanine aminotransferase concentration, Short sta...	OMIM:611881
Hyperkalemic Periodic Paralysis	Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration	ORPHA:682
Anemia, Congenital Dyserythropoietic, Type Ib	Short stature, Jaundice, Growth delay, Hepatomegaly, Splenomegaly	OMIM:615631
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Lactescent serum, Hepatosplenomegaly, Hyperlipidemia, Hypercholesterolemi...	OMIM:238600
Coproporphyria, Hereditary	Jaundice, Splenomegaly, Hepatomegaly	OMIM:121300
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Hepatocellular carcinoma, Elevated hepatic transaminas...	OMIM:619463
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Failure to thrive, Enlarged kidney, Splenomegaly, Hepatomegaly	OMIM:615285
Hemochromatosis, Type 2A	Cirrhosis, Splenomegaly, Increased circulating ferritin concentration, Hepatomegaly, Increased se...	OMIM:602390
Dysplastic Cortical Hyperostosis	Short stature, Splenomegaly, Hepatomegaly	ORPHA:2204
Liver Failure, Infantile, Transient	Hyperbilirubinemia, Hypoalbuminemia	OMIM:613070
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Decreased plasma carnitine, Abnormality of the liver, Hepatomegaly, Mildly elevated creatine kinase	ORPHA:254864
Carnitine Deficiency, Systemic Primary	Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, Im...	OMIM:212140
Combined Oxidative Phosphorylation Deficiency 47	Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Hepatomegaly, Intrauterine growth...	OMIM:618958
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Cholestasis, Hepatomegaly, Portal hypertension, Splenomegaly	ORPHA:59303
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Failure to thrive, Elevated hepatic transaminase, Growth delay, Hepatomegaly	OMIM:613561
Infantile Liver Failure Syndrome 1	Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Hepatomegaly, Acute hepatic ...	OMIM:615438
Hemophagocytic Lymphohistiocytosis, Familial, 2	Increased total bilirubin, Ataxia, Increased circulating ferritin concentration, Hypoproteinemia,...	OMIM:603553
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatic failure, Hepatic fibrosis, Short stature, Impaired glucose tolerance, Glucose intolerance...	OMIM:615630
Spherocytosis, Type 1	Hyperbilirubinemia	OMIM:182900
Congenital Generalized Lipodystrophy	Cirrhosis, Hyperinsulinemia, Increased C-peptide level, Insulin resistance, Hepatic steatosis, Fa...	ORPHA:528
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hepatomegaly, Intrauterine growth retardation	OMIM:615010
Wolcott-Rallison Syndrome	Hyperbilirubinemia, Hyperammonemia, Difficulty walking, Hyponatremia, Hypoalbuminemia	ORPHA:1667
Cidec-Related Familial Partial Lipodystrophy	Hepatic steatosis, Hyperlipidemia, Hepatomegaly, Insulin-resistant diabetes mellitus, Hypertrigly...	ORPHA:435651
Spherocytosis, Type 2	Hyperbilirubinemia	OMIM:616649
Mitochondrial Pyruvate Carrier Deficiency	Hypoglycemia, Increased serum pyruvate, Hepatomegaly	OMIM:614741
Mu-Heavy Chain Disease	Weight loss, Splenomegaly, Hepatomegaly	ORPHA:100024
Mast Cell Sarcoma	Weight loss, Splenomegaly, Hepatomegaly	ORPHA:66661
Car T Cell Therapy-Associated Cytokine Release Syndrome	Pleural effusion, Elevated circulating creatinine concentration, Hyperbilirubinemia, Pulmonary edema	ORPHA:542323
Hyperaldosteronism, Familial, Type Ii	Hypokalemia	OMIM:605635
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Hepatomegaly	OMIM:607685
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated circulating alanine aminotransferase concentration, Elevated hepatic transaminase, Insul...	OMIM:615381
Dysbetalipoproteinemia	Hypertriglyceridemia, Hepatic steatosis, Diabetes mellitus, Acute pancreatitis, Increased LDL cho...	ORPHA:412
Macrophage Activation Syndrome	Elevated circulating alanine aminotransferase concentration, Increased circulating lactate dehydr...	ORPHA:158061
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatic failure, Elevated circulating alanine aminotransferase concentration, Impaired gluconeoge...	OMIM:261680
Rh-Null, Regulator Type	Unconjugated hyperbilirubinemia	OMIM:268150
Liddle Syndrome 2	Decreased circulating renin level, Hypokalemia	OMIM:618114
Drug-Induced Autoimmune Hemolytic Anemia	Increased total bilirubin	ORPHA:90037
Tangier Disease	Left ventricular hypertrophy, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased ci...	OMIM:205400
Medullary Thyroid Carcinoma	Weight loss, Abnormal liver parenchyma morphology	ORPHA:1332
Leber Congenital Amaurosis 1	Hyperthreoninemia, Growth delay, Hepatomegaly	OMIM:204000
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Short stature, Glycosuria, Hypophosphatemia, Elevated hepatic transaminase, Large for gestational...	OMIM:616026
Overhydrated Hereditary Stomatocytosis	Hyperbilirubinemia	OMIM:185000
Hyperinsulinism Due To Hnf4A Deficiency	Hypoketotic hypoglycemia, Hyperinsulinemia, Glycosuria, Elevated hepatic transaminase, Large for ...	ORPHA:263455
Glycogen Storage Disease Due To Aldolase A Deficiency	Hyperkalemia, Elevated creatine kinase after exercise	ORPHA:57
Mitochondrial Complex I Deficiency, Nuclear Type 11	Failure to thrive, Macrovesicular hepatic steatosis, Hepatomegaly	OMIM:618234
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Failure to thrive, Short stature, Intrauterine growth retardation, Hepatomegaly	ORPHA:50812
Intrahepatic Cholestasis Of Pregnancy	Abnormality of the pancreas, Small for gestational age, Jaundice, Hyperbilirubinemia, Elevated he...	ORPHA:69665
Congenital Dyserythropoietic Anemia Type Iii	Hyperbilirubinemia, Increased total iron binding capacity, Increased serum iron	ORPHA:98870
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Glycosuria, Jaundice, Elevated hepatic transaminase, Failure to thrive, Giant cell hepatitis, Hep...	OMIM:613404
Aicardi-Goutieres Syndrome 4	Splenomegaly, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatomegaly, Intrauterine growt...	OMIM:610333
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Aplasia/Hypoplasia of the pancreas, Mild postnatal growth retardation, Failure to thrive, Diabete...	ORPHA:456312
Galactosemia	Cirrhosis, Hepatic failure, Hypergalactosemia, Increased level of galactitol in plasma, Jaundice,...	ORPHA:352
Lipe-Related Familial Partial Lipodystrophy	Insulin resistance, Elevated circulating creatine kinase concentration, Hepatic steatosis, Hyperl...	ORPHA:435660
Severe Neurodegenerative Syndrome With Lipodystrophy	Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Hepatomegaly, Hypertriglyceri...	ORPHA:363400
Elliptocytosis 2	Neonatal hyperbilirubinemia	OMIM:130600
Maternal Uniparental Disomy Of Chromosome 1	Short stature, Type I diabetes mellitus, Failure to thrive, Growth delay, Hepatomegaly	ORPHA:251009
Congenital Isolated Acth Deficiency	Hyperkalemia, Hyponatremia	ORPHA:199296
Metachromatic Leukodystrophy	Cholecystitis, Gallbladder dysfunction	OMIM:250100
Peroxisome Biogenesis Disorder 7A (Zellweger)	Elevated circulating tetracosanoic acid concentration, Jaundice, Hepatomegaly, Elevated circulati...	OMIM:614872
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Cardiomegaly, Cachexia, Elevated hepatic transaminase, Elevated circulating creatine kinase conce...	ORPHA:42
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hypoketotic hypoglycemia, Reduced carnitine O-palmitoyltransferase level, Hepatic failure, Elevat...	ORPHA:228305
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Delayed puberty, Growth delay, Hepatomegaly, Elevated circulating creatine kinase concentration	OMIM:615704
Pfapa Syndrome	Weight loss, Splenomegaly, Hepatomegaly	ORPHA:42642
Hypocalcemia, Autosomal Dominant 1	Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Abetalipoproteinemia	Gait ataxia, Decreased LDL cholesterol concentration, Hyperbilirubinemia, Abnormal circulating ap...	ORPHA:14
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatic cysts, Hepatomegaly	OMIM:617004
Pyruvate Carboxylase Deficiency	Hypoglycemia, Hyperalaninemia, Increased serum pyruvate, Hepatomegaly	OMIM:266150
Birk-Landau-Perez Syndrome	Increased circulating creatine kinase MB isoform, Failure to thrive in infancy, Optic atrophy, Hy...	OMIM:617595
Hemochromatosis, Type 1	Cirrhosis, Increased serum iron, Glucose intolerance, Elevated hepatic transaminase, Hepatocellul...	OMIM:235200
Cardiomyopathy, Familial Restrictive, 6	Portal artery hyperplasia, Ascites, Portal vein hypoplasia, Hepatomegaly	OMIM:619433
Immunodeficiency 47	Hypercholesterolemia, Hepatic fibrosis, Elevated circulating alanine aminotransferase concentrati...	OMIM:300972
Combined Oxidative Phosphorylation Deficiency 33	Left ventricular hypertrophy, Elevated hepatic transaminase, Elevated circulating creatine kinase...	OMIM:617713
Familial Hypoaldosteronism	Failure to thrive, Hyperkalemia, Increased circulating renin level, Hyponatremia	ORPHA:427
Cystic Echinococcosis	Abnormal subpleural morphology, Hyperbilirubinemia, Pulmonary cyst, Multiple pulmonary cysts	ORPHA:400
Anemia, Congenital Dyserythropoietic, Type Ia	Small for gestational age, Hyperbilirubinemia, Mild postnatal growth retardation, Reduced level o...	OMIM:224120
Glycogen Storage Disease Ia	Hyperuricemia, Short stature, Enlarged kidney, Elevated hepatic transaminase, Hepatocellular carc...	OMIM:232200
Familial Chylomicronemia Syndrome	Recurrent pancreatitis, Decreased body weight, Jaundice, Hepatosplenomegaly, Hepatic steatosis, F...	ORPHA:444490
Chronic Bilirubin Encephalopathy	Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia	ORPHA:529799
Relapsing Fever	Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-...	ORPHA:91547
Isolated Sedoheptulokinase Deficiency	Short stature, Hepatitis, Steatorrhea, Postprandial hyperglycemia, Cholestasis, Cholestatic liver...	ORPHA:440713
Erythroleukemia, Familial, Susceptibility To	Splenomegaly, Hepatomegaly	OMIM:133180
Mixed-Type Autoimmune Hemolytic Anemia	Increased total bilirubin	ORPHA:90036
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hepatic failure, Cirrhosis, Elevated hepatic transaminase, Hepatosplenomegaly, Failure to thrive,...	ORPHA:367
Autoinflammation, Immune Dysregulation, And Eosinophilia	Short stature, Hepatosplenomegaly, Eosinophilic liver infiltration, Failure to thrive, Hepatic cysts	OMIM:618999
Distal Xq28 Microduplication Syndrome	Tip-toe gait, Neonatal hyperbilirubinemia, Recurrent upper respiratory tract infections	ORPHA:293939
Beta-Thalassemia, Dominant Inclusion Body Type	Splenomegaly, Hepatomegaly	OMIM:603902
Neutral Lipid Storage Myopathy	Abnormal circulating creatine kinase concentration, Hypertriglyceridemia, Chronic pancreatitis, S...	ORPHA:98908
Dehydrated Hereditary Stomatocytosis 2	Hyperbilirubinemia	OMIM:616689
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hypocalcemia, Hyperkalemia, Hyperphosphatemia	ORPHA:99845
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Increased total bilirubin, Decreased plasma free carnitine, Elevated circulating long chain fatty...	OMIM:608836
Immunodeficiency 42	Splenomegaly, Hepatomegaly	OMIM:616622
Anemia, Hypochromic Microcytic, With Iron Overload 2	Elevated transferrin saturation, Increased circulating ferritin concentration, Growth delay, Hepa...	OMIM:615234
Peroxisome Biogenesis Disorder 12A (Zellweger)	Hyperbilirubinemia, Elevated circulating long chain fatty acid concentration	OMIM:614886
Niemann-Pick Disease, Type A	Elevated circulating alanine aminotransferase concentration, Short stature, Elevated circulating ...	OMIM:257200
Bachmann-Bupp Syndrome	Hyperbilirubinemia	OMIM:619075
Argininemia	Portal fibrosis, Hyperammonemia, Micronodular cirrhosis, Cholestasis, Hepatomegaly, Hyperarginine...	OMIM:207800
Osteopetrosis, Autosomal Recessive 8	Failure to thrive, Splenomegaly, Hepatomegaly	OMIM:615085
Autoinflammation With Episodic Fever And Lymphadenopathy	Splenomegaly, Hepatomegaly	OMIM:618852
Pparg-Related Familial Partial Lipodystrophy	Cirrhosis, Splenomegaly, Hyperuricemia, Maternal diabetes, Insulin resistance, Hepatic steatosis,...	ORPHA:79083
Congenital Disorder Of Glycosylation, Type Ih	Failure to thrive, Cholestasis, Hepatomegaly, Decreased liver function, Elevated circulating crea...	OMIM:608104
Pleural Mesothelioma	Weight loss, Hepatomegaly	ORPHA:50251
Infantile Refsum Disease	Elevated circulating phytanic acid concentration, Failure to thrive, Short stature, Hepatomegaly	ORPHA:772
Spastic Paraplegia 29, Autosomal Dominant	Neonatal hyperbilirubinemia	OMIM:609727
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoketotic hypoglycemia, Failure to thrive, Hypoglycemia, Hepatomegaly, Cholestatic liver disease	ORPHA:5
Combined Oxidative Phosphorylation Deficiency 19	Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El...	OMIM:615595
Fish-Eye Disease	Decreased HDL cholesterol concentration, Splenomegaly, Hepatomegaly	ORPHA:79292
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Elevated circulating apolipoprotein B concentration, In...	OMIM:144250
B4Galt1-Cdg	Decreased LDL cholesterol concentration, Small for gestational age, Elevated hepatic transaminase...	ORPHA:79332
Hypothyroidism Due To Tsh Receptor Mutations	Increased circulating thyroglobulin level, Lethargy, Neonatal hyperbilirubinemia	ORPHA:90673
Neutral Lipid Storage Disease With Ichthyosis	Abnormal circulating creatine kinase concentration, Hypertriglyceridemia, Short stature, Elevated...	ORPHA:98907
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:602088
Reese Retinal Dysplasia	Retinal dysplasia, Remnants of the hyaloid vascular system	OMIM:266400
Transaldolase Deficiency	Hepatic fibrosis, Cirrhosis, Small for gestational age, Hepatosplenomegaly, Failure to thrive, Mi...	OMIM:606003
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Intrahepatic biliary atresia, Hepatic fibrosis, Hepatic failure, Sclerosing cholangitis, Jaundice...	OMIM:607626
Familial Pseudohyperkalemia	Hyperkalemia	ORPHA:90044
Heme Oxygenase 1 Deficiency	Asplenia, Elevated circulating alanine aminotransferase concentration, Elevated circulating aspar...	OMIM:614034
Pyruvate Carboxylase Deficiency	Hyperlysinemia, Hyperalaninemia, Tip-toe gait, Hypoglutaminemia, Hypertaurinemia, Ataxia, Neonata...	ORPHA:3008
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Failure to thrive, Hyperammonemia, Hepatomegaly, Hyperornithinemia, Decreased liver function, Acu...	OMIM:238970
Interstitial Lung And Liver Disease	Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Cirrhosis, Hepatic...	OMIM:615486
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehydrogenase level in blood	OMIM:300908
Mitchell-Riley Syndrome	Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Hyperbilirubinemia, Acholic stools, D...	OMIM:615710
Meckel Syndrome, Type 3	Hepatic fibrosis, Bile duct proliferation, Malformation of the hepatic ductal plate, Hepatomegaly	OMIM:607361
Dehydrated Hereditary Stomatocytosis	Increased total bilirubin, Increased circulating ferritin concentration, Neonatal hyperbilirubine...	ORPHA:3202
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Decreased plasma carnitine, Elevated hepatic transaminase, Hepatic steatosis, Hypoglycemia, Hepat...	OMIM:201450
Congenital Rubella Syndrome	Short stature, Jaundice, Type I diabetes mellitus, Hepatomegaly, Intrauterine growth retardation,...	ORPHA:290
Bartter Syndrome, Type 5, Antenatal, Transient	Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia	OMIM:300971
Congenital Disorder Of Glycosylation, Type Iil	Cirrhosis, Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Ele...	OMIM:614576
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Hepatocellular carcinoma, Hepatic steatosis, Hypoglycemia, Hepatomegaly, Elevated circulating ala...	OMIM:256810
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Splenomegaly, Hepatitis, Jaundice, Increased circulating ferritin concentration, Hepatomegaly, Ch...	OMIM:194380
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Jaundice, Hypokalemia, Elevated circulating alpha-fetoprotein concentration, Elevated gamma-gluta...	OMIM:613095
Beta-Thalassemia	Abnormality of iron homeostasis, Hepatitis, Hepatomegaly, Cholelithiasis, Splenomegaly	ORPHA:848
Anemia, Congenital Dyserythropoietic, Type Iv	Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Reduced haptoglobin level	OMIM:613673
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cirrhosis, Microvesicular hepatic steatosis, Polysplenia, Macronodular cirrhosis, Neonatal hypogl...	OMIM:619418
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Splenomegaly, Failure to thrive, Hyperammonemia, Hepatomegaly, Pancreatitis	ORPHA:79312
Farber Lipogranulomatosis	Failure to thrive, Decreased acid ceramidase activity, Splenomegaly, Hepatomegaly	OMIM:228000
Rh Deficiency Syndrome	Reduced haptoglobin level, Hyperbilirubinemia	ORPHA:71275
Aredyld Syndrome	Short stature, Type II diabetes mellitus, Cachexia, Type I diabetes mellitus, Hepatomegaly, Intra...	ORPHA:1133
Acquired Generalized Lipodystrophy	Cirrhosis, Hyperinsulinemia, Abnormal circulating lipid concentration, Insulin resistance, Hepati...	ORPHA:79086
Glycogen Storage Disease Ib	Splenomegaly, Hyperuricemia, Short stature, Enlarged kidney, Elevated hepatic transaminase, Hepat...	OMIM:232220
Isolated Thyroid-Stimulating Hormone Deficiency	Abnormal circulating thyroglobulin level, Lethargy, Neonatal hyperbilirubinemia, Hypercholesterol...	ORPHA:90674
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Small for gestational age,...	ORPHA:26793
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Neonatal hyperbilirubinemia	ORPHA:73272
Griscelli Syndrome	Abnormal circulating lipid concentration, Short stature, Hepatitis, Jaundice, Hepatomegaly, Ascit...	ORPHA:381
Sickle Cell Anemia	Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration	ORPHA:232
Leishmaniasis	Weight loss, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hypoalbuminemia	ORPHA:507
Hereditary Spherocytosis	Hyperbilirubinemia, Ataxia	ORPHA:822
Liddle Syndrome 1	Decreased circulating renin level, Hypokalemia	OMIM:177200
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia	OMIM:170400
Symptomatic Form Of Hemochromatosis Type 1	Cirrhosis, Abnormality of iron homeostasis, Weight loss, Elevated transferrin saturation, Cholang...	ORPHA:465508
Hurler-Scheie Syndrome	Short stature, Splenomegaly, Hepatomegaly	ORPHA:93476
Diffuse Neonatal Hemangiomatosis	Ascites, Hypercalcemia, Hepatomegaly	ORPHA:2123
Secondary Short Bowel Syndrome	Weight loss, Steatorrhea, Abnormal blood ion concentration, Failure to thrive, Growth delay, Chol...	ORPHA:95427
Hereditary Elliptocytosis	Hyperbilirubinemia, Neonatal hyperbilirubinemia	ORPHA:288
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Hepatocellular necrosis, Nonketotic hypoglycemia, Decreased plasma carnitine...	OMIM:201475
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Growth delay, Hyperammonemia, Pancreatitis, Hepatomegaly	ORPHA:289916
Familial Hemophagocytic Lymphohistiocytosis	Jaundice, Elevated hepatic transaminase, Increased circulating ferritin concentration, Hepatomega...	ORPHA:540
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Failure to thrive, Splenomegaly, Hepatomegaly	OMIM:618495
Combined Oxidative Phosphorylation Deficiency 53	Failure to thrive, Short stature, Elevated circulating C-reactive protein concentration, Hepatome...	OMIM:619423
Familial Partial Lipodystrophy, Dunnigan Type	Splenomegaly, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Hypertrigly...	ORPHA:2348
Fumarase Deficiency	Hyperbilirubinemia	OMIM:606812
Fucosidosis	Abnormality of the gallbladder, Failure to thrive, Cardiomegaly, Hepatomegaly	ORPHA:349
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatic fibrosis, Short stature, Steatorrhea, Hepatic steatosis, Failure to thrive, Diabetes mell...	OMIM:616263
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Hypomagnesemia	ORPHA:564178
Alstrom Syndrome	Hyperinsulinemia, Hyperuricemia, Short stature, Chronic active hepatitis, Elevated hepatic transa...	OMIM:203800
Pituitary Hormone Deficiency, Combined, 6	Hyperbilirubinemia	OMIM:613986
Liddle Syndrome	Hypokalemia	ORPHA:526
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia, Weight loss	OMIM:188580
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Ataxia, Inability to walk, Hyperkalemia, Conjugated hyperbilirubinemia	OMIM:608885
Reynolds Syndrome	Biliary cirrhosis, Calcinosis, Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Steat...	OMIM:613471
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia, Aspiration pneumonia	ORPHA:95232
Carnitine Palmitoyltransferase Ii Deficiency	Hypoketotic hypoglycemia, Reduced carnitine O-palmitoyltransferase level, Hepatic failure, Elevat...	ORPHA:157
Beta-Thalassemia Intermedia	Cholelithiasis, Cirrhosis, Abnormality of the liver, Abnormality of iron homeostasis, Jaundice, H...	ORPHA:231222
Graft Versus Host Disease	Hyperbilirubinemia, Pneumonia	ORPHA:39812
Citrullinemia, Classic	Cirrhosis, Episodic ammonia intoxication, Failure to thrive, Hyperammonemia, Hypoargininemia, Hep...	OMIM:215700
Renal Tubular Acidosis, Distal, 1	Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia	OMIM:179800
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Hyperbilirubinemia, Lethargy	OMIM:218700
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hypokalemia, Hyperamylasemia	OMIM:604278
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cirrhosis, Granulomatous cholangitis, Sclerosing cholangitis, Interface hepatitis, Elevated hepat...	ORPHA:562639
Renal Hypoplasia, Bilateral	Small for gestational age, Failure to thrive, Hyperkalemia, Hyponatremia	ORPHA:97362
Fructose-1,6-Bisphosphatase Deficiency	Hyperalaninemia, Hyperuricemia, Neonatal hyperbilirubinemia	ORPHA:348
Congenital Pulmonary Lymphangiectasia	Growth delay, Ascites, Splenomegaly, Hepatomegaly	ORPHA:2414
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Failure to thrive, Hypokalemia	OMIM:602722
Combined Oxidative Phosphorylation Deficiency 4	Hyperammonemia, Intrauterine growth retardation, Hepatomegaly	OMIM:610678
Propionic Acidemia	Hyperglycinemia, Short stature, Failure to thrive, Hypoglycemia, Hyperammonemia, Propionyl-CoA ca...	OMIM:606054
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Failure to thrive, Hepatomegaly, Hypertriglyceridemia, Splenomegaly	OMIM:617591
Renal-Hepatic-Pancreatic Dysplasia 2	Asplenia, Hepatic fibrosis, Enlarged kidney, Malformation of the hepatic ductal plate, Cholestasi...	OMIM:615415
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly, Increased serum zinc	OMIM:601979
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Short stature, Growth delay, Hepatomegaly, Intrauterine growth retardation, Splenomegaly	OMIM:618541
Classic Hodgkin Lymphoma	Weight loss, Splenomegaly, Hepatomegaly	ORPHA:391
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Microvesicular hepatic steatosis, Weight loss, Hypokalemia, Portal fibrosis, Fa...	OMIM:619377
Immunodeficiency 32B	Failure to thrive, Splenomegaly, Hepatomegaly, Hypoalbuminemia	OMIM:226990
Tyrosinemia, Type I	Hypermethioninemia, Cirrhosis, Hepatic failure, Enlarged kidney, Elevated hepatic transaminase, H...	OMIM:276700
Desmoplastic Small Round Cell Tumor

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Gene: Abcb11 MGI:1351619

Gene Summary

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IMPC Phenotype Summary

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lacZ Expression

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Human diseases caused by Abcb11 mutations