Gene Summary

Name:
ATP-binding cassette, sub-family B member 11
Synonyms:
Bsep,  PGY4,  Lith1,  PFIC2,  ABC16,  sister of P-glycoprotein

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating bilirubin level Abcb11tm1b(EUCOMM)Hmgu HET Early adult 0.00
increased circulating aspartate transaminase level Abcb11tm1b(EUCOMM)Hmgu HET Early adult 7.31×10-05
increased circulating potassium level Abcb11tm1a(EUCOMM)Hmgu HOM Early adult 4.20×10-10
increased circulating amylase level Abcb11tm1b(EUCOMM)Hmgu HET Early adult 3.03×10-07
decreased circulating triglyceride level Abcb11tm1b(EUCOMM)Hmgu HET Early adult 3.05×10-05
preweaning lethality, incomplete penetrance Abcb11tm1b(EUCOMM)Hmgu HOM   Early adult 0.0455
increased circulating alkaline phosphatase level Abcb11tm1a(EUCOMM)Hmgu HOM Early adult 2.10×10-05
decreased locomotor activity Abcb11tm1b(EUCOMM)Hmgu HET   Early adult 3.24×10-06
increased lean body mass Abcb11tm1a(EUCOMM)Hmgu HOM Early adult 1.14×10-05
increased circulating alkaline phosphatase level Abcb11tm1b(EUCOMM)Hmgu HET Early adult 1.68×10-19
abnormal retina morphology Abcb11tm1a(EUCOMM)Hmgu HOM Early adult 1.26×10-07
increased circulating fructosamine level Abcb11tm1b(EUCOMM)Hmgu HET Early adult 8.83×10-12
abnormal lung morphology Abcb11tm1b(EUCOMM)Hmgu HET Early adult 0.00
increased circulating unsaturated transferrin level Abcb11tm1b(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.

Electrocardiogram (ECG)

Waveform Image

34 Images

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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.

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Portal fibrosis, Hypertyrosinemia,... OMIM:605814
Bile Acid Synthesis Defect, Congenital, 2
Steatorrhea, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concen... OMIM:235555
Glycogen Storage Disease Vi
Hypertriglyceridemia, Postnatal growth retardation, Hepatomegaly, Elevated circulating hepatic tr... OMIM:232700
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Jaundice, Intrahepatic cholestasis, Cirrhosis, Hepatomegaly, Elevated circulating he... OMIM:607765
Bile Acid Synthesis Defect, Congenital, 3
Steatorrhea, Jaundice, Intrahepatic cholestasis, Cirrhosis, Hepatomegaly, Elevated circulating al... OMIM:613812
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Pancreatitis, ... ORPHA:69663
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic... OMIM:601847
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr... OMIM:602347
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Elevated circu... OMIM:619484
Cholestasis, Intrahepatic, Of Pregnancy, 1
Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Abno... OMIM:147480
Cholestasis, Benign Recurrent Intrahepatic, 2
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Cholelithiasis, Conjugated hyperbilirubinemia, ... OMIM:605479
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Increased serum bile acid concentration, Elevated circul... OMIM:619868
Cholestasis, Intrahepatic, Of Pregnancy 3
Jaundice, Intrahepatic cholestasis, Increased serum bile acid concentration during pregnancy, Abn... OMIM:614972
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypermethioninemia OMIM:606664
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Pancreatitis, Increased serum bile acid concentration, Intrahepatic cholestasis wit... OMIM:243300
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... OMIM:619849
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Shor... OMIM:614480
Bile Acid Synthesis Defect, Congenital, 4
Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... OMIM:214950
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Postnatal growth retardation, Intrahepatic cholestasis, Jaundice, Eleva... OMIM:617093
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration ORPHA:2843
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Increased serum bile acid concentration, Elevated circulating alanine aminotransfer... OMIM:619874
Cholestasis, Progressive Familial Intrahepatic, 4
Cirrhosis, Intrahepatic cholestasis, Hepatocellular carcinoma, Portal hypertension, Hepatic failure OMIM:615878
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Failure to thrive in infancy, Hepatomegaly, Splenomegaly OMIM:619175
Caroli Disease
Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a... ORPHA:53035
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated 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
Malaria
Hyperbilirubinemia, Gait imbalance, Elevated circulating C-reactive protein concentration ORPHA:673
Fanconi-Bickel Syndrome
Postnatal growth retardation, Hepatomegaly, Intrahepatic cholestasis, Increased serum bile acid c... OMIM:227810
Mednik Syndrome
Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Decreased circulatin... ORPHA:171851
Galactosemia Iv
Prolonged neonatal jaundice, Hepatomegaly, Hypergalactosemia OMIM:618881
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hepatomegaly, Increased serum bile acid concentration, Hyperbilirubinemia, Cholestasis,... OMIM:620010
Hyperchlorhidrosis, Isolated
Hyperkalemia, Failure to thrive, Hyponatremia OMIM:143860
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hyper... OMIM:214900
Hypercholanemia, Familial, 2
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia OMIM:619256
Peroxisome Biogenesis Disorder 13A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Intrahepatic cholestasis, Hepatom... OMIM:614887
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
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con... OMIM:616828
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Irida Syndrome
Intrahepatic cholestasis, Decreased circulating copper concentration ORPHA:209981
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:3111
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Delayed puberty, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration... ORPHA:369
Rft1-Cdg
Short stature, Failure to thrive, Hepatomegaly ORPHA:244310
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Redu... OMIM:306000
Congenital Disorder Of Glycosylation, Type It
Delayed puberty, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentratio... OMIM:614921
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Caroli Syndrome
Cirrhosis, Intrahepatic cholestasis, Jaundice, Elevated circulating hepatic transaminase concentr... ORPHA:480520
Galactose Mutarotase Deficiency
Decreased liver function, Hepatomegaly, Abnormal circulating enzyme concentration or activity, Hy... ORPHA:570422
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Intrahepatic cholestasis, Increased serum bile acid concentration, Hyperbilirubinemia, Elevated c... OMIM:619685
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Postnatal growth retardation, Cirrhosis, Hepatomegaly, Elevated circulating... OMIM:613027
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Progressive Familial Intrahepatic Cholestasis
Jaundice, Hepatomegaly, Hypocalcemia, Cholestasis, Short stature, Failure to thrive, Splenomegaly ORPHA:172
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Elevated plasma citrulline, Pancreatitis, Portal inflammation, Hepatocellul... OMIM:603471
Somatostatinoma
Steatorrhea, Intrahepatic cholestasis, Neoplasm of the pancreas, Gallbladder dysfunction, Hepatom... ORPHA:97283
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Biliary tract obstruction,... ORPHA:100085
Galactosemia Iii
Jaundice, Hepatomegaly, Hypergalactosemia, Failure to thrive, Splenomegaly, Decreased beta-galact... OMIM:230350
Lathosterolosis
Bilobate gallbladder, Intrahepatic cholestasis, Elevated circulating alkaline phosphatase concent... OMIM:607330
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hypercholesterolemia, Hepa... ORPHA:75234
Cholestasis, Progressive Familial Intrahepatic, 8
Cirrhosis, Jaundice, Hepatomegaly, Increased serum bile acid concentration, Sclerosing cholangiti... OMIM:619662
Ppoma
Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Cholelithiasis, Abnormal abdome... ORPHA:97278
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Elevated circulating hepatic transaminase concentration, Hypercholester... OMIM:616829
Mulibrey Nanism
Short stature, Cachexia, Hepatomegaly, Intrauterine growth retardation ORPHA:2576
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia OMIM:179700
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Growth delay, Splenomegaly, Weight loss ORPHA:79238
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hepatomegaly, Hypocalcemia, Short stature, Insulin resistance, Hepatospleno... OMIM:612526
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, ... OMIM:619658
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Bilia... ORPHA:79301
Vipoma
Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Hypokalemia, Abnormal abdomen m... ORPHA:97282
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti... OMIM:312700
Biliary Atresia, Extrahepatic
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Porta... OMIM:210500
Glycogen Storage Disease Iii
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Reduced muscle glycogen de... OMIM:232400
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold OMIM:617572
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hepatomegaly,... OMIM:616278
Congenital Bile Acid Synthesis Defect Type 2
Postnatal growth retardation, Steatorrhea, Jaundice, Elevated circulating hepatic transaminase co... ORPHA:79303
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Abnormality of the pancreas ORPHA:3032
Gracile Syndrome
Increased serum pyruvate, Cholestasis, Increased circulating iron concentration, Intrauterine gro... OMIM:603358
Hepatic Veno-Occlusive Disease
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Increased body w... ORPHA:890
Grfoma
Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Cholelithiasis, Abnormal abdome... ORPHA:97261
Gallbladder Disease 1
Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholangitis, Cho... OMIM:600803
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Increased LDL choles... OMIM:607616
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia, Hepatomegaly OMIM:609016
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Increased circulating... OMIM:278000
Exudative Vitreoretinopathy 3
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia OMIM:237800
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia, Increased LD... OMIM:615703
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole... ORPHA:567983
Hijazi-Reis Syndrome
Hyperbilirubinemia, Recurrent respiratory infections, Gait disturbance OMIM:301094
3-Methylglutaconic Aciduria Type 1
Failure to thrive, Hypoglycemia, Hepatomegaly ORPHA:67046
Wolman Disease
Hepatomegaly, Reduced lysosomal acid lipase activity, Failure to thrive, Acute hepatic failure, S... OMIM:620151
Glucagonoma
Steatorrhea, Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Abnormal abdomen m... ORPHA:97280
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Hyperlipidemia, Portal hypertension, Biliary tract abnormality... ORPHA:1414
Hemochromatosis, Neonatal
Cirrhosis, Abnormality of iron homeostasis, Cholestasis, Hypoglycemia, Hepatocellular necrosis, P... OMIM:231100
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated... OMIM:615158
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Ataxia, Neonatal hyperbilirubinemia ORPHA:3363
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:620126
Bilateral Striopallidodentate Calcinosis
Abnormality of the liver, Hepatomegaly, Intrauterine growth retardation ORPHA:1980
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Hyperalaninemia, Elevated circulating alanine aminotransferase concentration, Left ... OMIM:619048
Familial Drusen
Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne... ORPHA:75376
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:620125
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Failure to thrive, Hyponatremia, Increased circulating renin level OMIM:610600
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Bile Acid Conjugation Defect 1
Jaundice, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Conjugated h... OMIM:619232
Farber Disease
Elevated circulating hepatic transaminase concentration, Abnormal circulating enzyme concentratio... ORPHA:333
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Failure to thrive, Hyponatremia, Increased circulating renin level OMIM:203400
Glycogen Storage Disease Ixb
Hepatomegaly, Hyperuricemia, Increased hepatic glycogen content, Growth delay, Short stature, Spl... OMIM:261750
Systemic Primary Carnitine Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration ORPHA:158
Peroxisome Biogenesis Disorder 8A (Zellweger)
Elevated circulating aspartate aminotransferase concentration, Jaundice, Hepatomegaly OMIM:614876
Lathosterolosis
Hepatomegaly, Intrahepatic cholestasis, Failure to thrive, Intrauterine growth retardation, Hepat... ORPHA:46059
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
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Cog7-Cdg
Postnatal growth retardation, Jaundice, Elevated circulating hepatic transaminase concentration, ... ORPHA:79333
Galactokinase Deficiency
Hepatomegaly, Hyperinsulinemia, Abnormal circulating enzyme concentration or activity, Increased ... ORPHA:79237
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age, Hepatomegaly ORPHA:2432
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Hepatomegaly OMIM:615924
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Fumarase Deficiency
Decreased fumarate hydratase activity, Intrahepatic cholestasis, Hyperbilirubinemia, Ascites, Fai... OMIM:606812
Megaloblastic Anemia, Folate-Responsive
Hyperbilirubinemia, Increased circulating ferritin concentration, Hyperhomocystinemia OMIM:601775
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Elevated circulating hepatic transaminase concent... ORPHA:64743
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Multiple Symmetric Lipomatosis
Insulin resistance, Hepatomegaly ORPHA:2398
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased circu... OMIM:613313
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Jaundice, Hepatomegaly, Splenomegaly, Increased circulating ferritin concen... OMIM:603552
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole... OMIM:617394
Isolated Biliary Atresia
Decreased liver function, Xanthelasma, Cirrhosis, Jaundice, Elevated circulating hepatic transami... ORPHA:30391
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Budd-Chiari Syndrome
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Ascit... ORPHA:131
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia OMIM:141000
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hyperkalemia, Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated cir... OMIM:618528
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Rhizomelic Chondrodysplasia Punctata, Type 2
Reduced Acyl-CoA:dihydroxyacetone phosphate acyltransferase activity in cultured fibroblasts, Rhi... OMIM:222765
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubinemia, Hypermethionine... OMIM:614300
Pyruvate Kinase Deficiency Of Red Cells
Jaundice, Hepatomegaly, Reduced haptoglobin level, Cholelithiasis, Reduced red cell pyruvate kina... OMIM:266200
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Steatorrhea, Jaundice, Hepatomegaly, Failure to thrive, Exocrine pancreatic insufficiency, Spleno... OMIM:612714
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating renin level, Failure to thrive, Hypertensive retinopathy, Smal... OMIM:218030
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma ORPHA:882
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, ... ORPHA:158057
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Hepa... OMIM:301045
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Failure to thrive, Hyponatremia, Increased circulating renin level OMIM:177735
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating alanine am... OMIM:614727
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hepatomegaly, Hyperinsulinemia, Maturity-onset diab... ORPHA:324575
Hepatitis, Fulminant Viral, Susceptibility To
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Fulminant hepati... OMIM:618549
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Failure to thrive, Hyponatremia, Increased circulating renin level ORPHA:556037
Idiopathic Congenital Hypothyroidism
Lethargy, Neonatal hyperbilirubinemia ORPHA:95717
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Elevated transferrin saturation, Increased circulating ferritin concentration, Increased circulat... ORPHA:766
Liver Disease, Severe Congenital
Elevated circulating hepatic transaminase concentration, Hypoproteinemia, Ascites, Biliary hyperp... OMIM:619991
Wolman Disease
Steatorrhea, Hepatomegaly, Cachexia, Ascites, Growth delay, Splenomegaly, Hepatic failure ORPHA:75233
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly ORPHA:46532
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Macrovesicular hepatic steatosis, Acute hepatic steatosis, Increased LDL ch... ORPHA:209902
Lipoyltransferase 1 Deficiency
Increased total bilirubin, Hyperglutaminemia, Hyperprolinemia OMIM:616299
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypoglycemia, Increased blood urea nitrogen, Failure to thrive, Elevated circulatin... OMIM:617872
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin concentration, Conjugated hyperbilirubinemia ORPHA:95715
Congenital Bile Acid Synthesis Defect Type 3
Cirrhosis, Jaundice, Hyperbilirubinemia, Cholestasis, Elevated circulating alanine aminotransfera... ORPHA:79302
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration... OMIM:207750
Sandhoff Disease
Failure to thrive, Hepatomegaly, Splenomegaly ORPHA:796
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Acth Deficiency, Isolated
Jaundice, Decreased circulating cortisol level, Cholestasis, Fasting hypoglycemia OMIM:201400
Pseudohypoaldosteronism, Type Iib
Hyperkalemia, Hyperchloremia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperkalemia, Hyperchloremia OMIM:614495
Neonatal Severe Primary Hyperparathyroidism
Short stature, Hepatomegaly, Splenomegaly ORPHA:417
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Decreased circulating renin level, Hyperchloremia OMIM:614492
Galactosemia I
Decreased liver function, Increased level of galactitol in red blood cells, Cirrhosis, Hepatomega... OMIM:230400
Congenital Disorder Of Glycosylation, Type In
Short stature, Failure to thrive, Hepatomegaly OMIM:612015
Lambert Syndrome
Jaundice, Intrahepatic biliary atresia, Cholestasis, Intrauterine growth retardation, Failure to ... ORPHA:1296
Dietary Iron Overload Disease
Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis... ORPHA:139507
Immunodeficiency 104
Hepatomegaly, Splenomegaly, Failure to thrive secondary to recurrent infections OMIM:608971
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Eleva... OMIM:616860
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Cholestasis, Biliary cirrh... OMIM:620454
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concent... ORPHA:65682
Mitochondrial Myopathy, Infantile, Transient
Hepatomegaly, Decreased circulating carnitine concentration, Increased serum pyruvate, Elevated c... OMIM:500009
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Hypoglycemic seizures, Childhood-onset truncal obesity, Hyperinsulinemia, Choles... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Hypoglycemic seizures, Childhood-onset truncal obesity, Hyperinsulinemia, Choles... ORPHA:71526
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Failure to thrive, Hyponatremia, Increased circulating renin level ORPHA:556030
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:267700
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Hypocholesterolemia, Hepatomegaly, Splenomegaly OMIM:610539
Bile Acid Malabsorption, Primary, 2
Steatorrhea, Decreased circulating chenodeoxycholic acid concentration, Periportal fibrosis, Elev... OMIM:619481
Hyperlipoproteinemia, Type Id
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Increa... OMIM:615947
Harderoporphyria
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia OMIM:618892
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper... OMIM:617068
Hypermanganesemia With Dystonia 1
Bradykinesia, Steppage gait, Increased total iron binding capacity, Unconjugated hyperbilirubinem... OMIM:613280
Nephronophthisis 19
Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ... OMIM:616217
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hepatomegaly, Fasting hypoglycemia, Increased hepatic glycogen content, Hep... ORPHA:2088
Hyperbiliverdinemia
Decreased liver function, Elevated circulating biliverdin concentration, Cholestasis, Cholelithiasis OMIM:614156
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia, Hepatomegaly, Acute pancreatitis, Hyperglycemia, Insulin-resistant diabetes... OMIM:608600
Retinitis Pigmentosa 59
Intrauterine growth retardation, Failure to thrive, Hepatomegaly, Elevated circulating hepatic tr... OMIM:613861
Infantile Liver Failure Syndrome 3
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Cholestasis, Sho... OMIM:618641
Propionic Acidemia
Hyperammonemia, Hypoglycemia, Hepatomegaly, Propionyl-CoA carboxylase deficiency ORPHA:35
Hemoglobin H Disease
Hepatomegaly, Splenomegaly OMIM:613978
Congenital Toxoplasmosis
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Ascites, Cardiom... ORPHA:858
Dubin-Johnson Syndrome
Jaundice, Hepatomegaly, Biliary tract abnormality, Conjugated hyperbilirubinemia, Abnormality of ... ORPHA:234
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus, Elev... OMIM:606069
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Delayed puberty, Hepatocellular adenoma, Elevated circulating hepatic trans... ORPHA:264580
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Splenomegaly OMIM:606445
Cholestasis, Progressive Familial Intrahepatic, 5
Hyperammonemia, Elevated circulating alpha-fetoprotein concentration, Pleural effusion, Conjugate... OMIM:617049
Lymphoproliferative Syndrome, X-Linked, 2
Hypertriglyceridemia, Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, H... OMIM:300635
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Hepatomegaly, Splenomegaly OMIM:619462
Vitamin B12-Responsive Methylmalonic Acidemia
Hyperammonemia, Hepatomegaly, Failure to thrive ORPHA:28
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Hepatomegaly, Increased C-peptide level, Diabetic ketoacidosis, Hepatic ste... OMIM:615238
Pyruvate Dehydrogenase E3 Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased circulating carn... ORPHA:2394
Osteopetrosis, Autosomal Recessive 9
Hyperkalemia, Elevated circulating creatinine concentration, Papilledema OMIM:620366
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperkalemia, Failure to thrive, Hyponatremia OMIM:264350
Pseudohypoaldosteronism, Type Iie
Hyperkalemia, Hyperchloremia OMIM:614496
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Weight loss ORPHA:86893
Cyanosis, Transient Neonatal
Jaundice, Hepatomegaly OMIM:613977
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Large for gestational age, Hepatomegaly, Hyperinsulinemia, Diffuse pancrea... ORPHA:276575
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste... OMIM:600649
Gracile Syndrome
Cirrhosis, Decreased transferrin saturation, Cholestasis, Elevated hepatic iron concentration, In... ORPHA:53693
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension OMIM:610293
Combined Oxidative Phosphorylation Deficiency 1
Fulminant hepatic failure, Hepatomegaly, Cholestasis, Intrauterine growth retardation OMIM:609060
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin concentration, Lethargy, Neonatal hyperbilirubinemia ORPHA:95716
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperalaninemia, Cardiomeg... OMIM:619064
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Transient hyperlipidemia, ... ORPHA:156
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru... OMIM:600059
Glycogen Storage Disease Vii
Increased total bilirubin, Elevated circulating creatine kinase concentration, Hyperuricemia OMIM:232800
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Glutaric Acidemia Type 3
Abnormal circulating enzyme concentration, Elevated circulating glutaric acid concentration, Leth... ORPHA:35706
Alpha-Heavy Chain Disease
Hepatomegaly, Hypocalcemia, Ascites, Growth delay, Splenomegaly ORPHA:100025
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Jaundice, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reduced erythrocyte hexokinase activi... OMIM:235700
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia, Ataxia ORPHA:713
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoglycemia,... OMIM:605911
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Large for gestational age, Hepatomegaly, Diffuse pancreatic islet hyperpla... ORPHA:276556
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Hyperalaninemia, Elevated circulating alanine aminotransferase concentration, Failu... OMIM:614582
Mpi-Cdg
Decreased liver function, Hepatomegaly, Hyperinsulinemic hypoglycemia, Abnormal circulating enzym... ORPHA:79319
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure OMIM:616719
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, ... OMIM:255120
Klatskin Tumor
Jaundice, Hepatomegaly, Weight loss, Cholangiocarcinoma, Extrahepatic cholestasis ORPHA:99978
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Large for gestational age, Hepatomegaly, Hyperinsulinemia, Diffuse pancrea... ORPHA:276580
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Postnatal growth retardation, Hepatocellular adenoma, Cirrhosis, Elevated c... ORPHA:79240
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Pancreatitis, Hyperinsulinemia, Insulin resistance, Diabetes mellitus, Hepatic stea... ORPHA:79084
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Elevated circulating... ORPHA:247585
Johanson-Blizzard Syndrome
Intrahepatic cholestasis, Hepatomegaly, Hypocalcemia, Severe intrauterine growth retardation, Asc... OMIM:243800
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Increased circulating renin level, Hyponatremia, Weight loss, Failure to thrive in ... ORPHA:171876
Dihydrolipoamide Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... OMIM:246900
Immunodeficiency 54
Postnatal growth retardation, Hepatomegaly, Short stature, Failure to thrive, Splenomegaly, Intra... OMIM:609981
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia, Decreased circulating cortisol level OMIM:609734
Barth Syndrome
Growth delay, Failure to thrive, Elevated monolysocardiolipin/cardiolipin ratio OMIM:302060
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Elevated circulating hepatic transaminase concentration, Periportal... ORPHA:101330
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Periportal fibro... OMIM:251880
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Hepatomegaly, Ascites, Weight loss ORPHA:2198
Congenital Disorder Of Glycosylation, Type Ib
Steatorrhea, Hepatomegaly, Cirrhosis, Hyperinsulinemic hypoglycemia, Failure to thrive, Hypoalbum... OMIM:602579
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Jaundice, Hepatomegaly, Hepatocellular carcinoma, Cholestasis, Reduced circulating alp... ORPHA:60
Intrahepatic Cholestasis Of Pregnancy
Jaundice, Elevated circulating hepatic transaminase concentration, Increased serum bile acid conc... ORPHA:69665
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Failure ... OMIM:618805
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Insulin resistance, Hepatic steatosis, Insulin-resistant diab... ORPHA:79085
Immunodeficiency 114, Folate-Responsive
Hypertriglyceridemia, Postnatal growth retardation, Hepatomegaly, Splenomegaly, Increased circula... OMIM:620603
Congenital Disorder Of Glycosylation, Type Iij
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Failure to thri... OMIM:613489
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Failure to thrive, Hyponatremia OMIM:614736
Glycogen Storage Disease Xii
Delayed puberty, Jaundice, Hepatomegaly, Reduced haptoglobin level, Cholelithiasis, Decreased ery... OMIM:611881
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia OMIM:269920
Griscelli Syndrome Type 2
Jaundice, Hyperlipidemia, Splenomegaly, Hepatomegaly ORPHA:79477
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Decreased glucosephosphate isomerase level, Splenomegaly, Pigment galls... OMIM:613470
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Lethargy, Hypoalbuminemia, H... OMIM:617156
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ... OMIM:619463
Wilson Disease
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Acute... ORPHA:905
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circulating renin l... OMIM:241150
Spherocytosis, Type 4
Hyperbilirubinemia OMIM:612653
Peroxisome Biogenesis Disorder 6A (Zellweger)
Decreased liver function, Hepatomegaly OMIM:614870
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:266120
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Decreased circulating carnitine concentration, Impaired gluconeogenesis, Microvesic... OMIM:212140
Gaucher Disease, Type Iii
Hepatomegaly, Decreased body weight, Short stature, Decreased beta-glucocerebrosidase level, Sple... OMIM:231000
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Fasting hypoglycemia, Elevated circulating alanine aminotransferase concentration, ... OMIM:261680
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Hepatomegaly, Elevated circulating phytanic acid concentration, Failure to thrive, H... OMIM:266510
Trichohepatoenteric Syndrome 2
Cirrhosis, Hepatomegaly, Chronic hepatitis, Failure to thrive, Decreased circulating iron concent... OMIM:614602
Hyperkalemic Periodic Paralysis
Hyperkalemia, Hyponatremia, Elevated circulating creatine kinase concentration, Hypokalemia ORPHA:682
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Enlarged kidney, Hepatomegaly, Splenomegaly OMIM:615285
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Hepatomegaly, Growth delay, Short stature, Splenomegaly OMIM:615631
Infantile Liver Failure Syndrome 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute h... OMIM:615438
Pediatric Hepatocellular Carcinoma
Hepatomegaly, Portal vein thrombosis, Hepatic necrosis, Elevated circulating alpha-fetoprotein co... ORPHA:33402
Coproporphyria, Hereditary
Jaundice, Splenomegaly, Hepatomegaly OMIM:121300
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Abnormality of the liver, Hepatomegaly, Mildly elevated creatine kinase, Decreased circulating ca... ORPHA:254864
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Short stature, Hepatomegaly, Splenomegaly ORPHA:2204
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly ORPHA:59303
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:301083
Gallbladder Neuroendocrine Tumor
Biliary tract obstruction, Elevated alkaline phosphatase of hepatic origin, Intermittent jaundice... ORPHA:100086
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Failure to thrive, Intraut... OMIM:618958
Amyloidosis, Familial Visceral
Hepatomegaly, Cholestasis, Splenomegaly OMIM:105200
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Growth delay, Failure to thrive, Hepatomegaly, Elevated circulating hepatic transaminase concentr... OMIM:613561
Mitochondrial Pyruvate Carrier Deficiency
Increased serum pyruvate, Hypoglycemia, Hepatomegaly OMIM:614741
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Gia... OMIM:208085
Hemochromatosis, Type 2A
Cirrhosis, Hepatomegaly, Increased circulating iron concentration, Splenomegaly, Increased circul... OMIM:602390
Familial Chylomicronemia Syndrome
Hypertriglyceridemia, Jaundice, Increased circulating chylomicron concentration, Hyperlipidemia, ... ORPHA:444490
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Hypoproteinemia, Increased total bilirubin, Hyponatremia, Ataxia, Hypoalbum... OMIM:603553
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Elevated circulating creatinine concentration, Pleural effusion, Pulmonary edema ORPHA:542323
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Cholestasis, Impaired glucose tolerance, Short stature, Obesity, Splenomegaly, Hepa... OMIM:615630
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Large for gestational age, Hepatomegaly, Elevated circulating hepatic transaminase concentration,... OMIM:616026
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Glycogen Storage Disease Due To Aldolase A Deficiency
Hyperkalemia, Elevated creatine kinase after exercise ORPHA:57
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Hypercholesterolemia, Hyperinsulinemia, Failure to... ORPHA:528
Rh-Null, Amorph Type
Hyperbilirubinemia OMIM:617970
Wolcott-Rallison Syndrome
Difficulty walking, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Hypoalbuminemia ORPHA:1667
Immunodeficiency 48
Failure to thrive, Hepatomegaly, Splenomegaly OMIM:269840
Metachromatic Leukodystrophy
Reduced leukocyte arylsulfatase A activity, Gallbladder dysfunction, Cholecystitis OMIM:250100
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elev... OMIM:615381
Leber Congenital Amaurosis 1
Growth delay, Hepatomegaly, Hyperthreoninemia OMIM:204000
Mu-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Weight loss ORPHA:100024
Spherocytosis, Type 1
Hyperbilirubinemia OMIM:182900
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Weight loss ORPHA:66661
Liddle Syndrome 2
Decreased circulating renin level, Hypokalemia OMIM:618114
Liddle Syndrome 3
Decreased circulating renin level, Hypokalemia OMIM:618126
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... ORPHA:42
Dysbetalipoproteinemia
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Hepatomegaly, Hyperch... ORPHA:412
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly OMIM:607685
Spherocytosis, Type 2
Hyperbilirubinemia OMIM:616649
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Fetal Cytomegalovirus Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Splenomegaly, Co... ORPHA:294
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Gia... OMIM:613404
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Spleno... OMIM:610333
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90037
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Neonatal hypoglycemia, Hepatomegaly, Elevated circulating hepatic tran... ORPHA:263455
Tangier Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased circulatin... OMIM:205400
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis OMIM:618234
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia OMIM:620152
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Hepatomegaly, Insulin resistance, Hepatic stea... ORPHA:363400
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Delayed puberty, Hepatomegaly, Elevated circulating creatine kinase concentration, Growth delay OMIM:615704
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology, Weight loss ORPHA:1332
Peroxisome Biogenesis Disorder 7A (Zellweger)
Elevated circulating hexacosanoic acid concentration, Elevated circulating tetracosanoic acid con... OMIM:614872
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Hyperbilirubinemia, Increased total iron binding capacity ORPHA:98870
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Intrauterine growth retardation, Failure to thrive, Hepatomegaly, Short stature ORPHA:50812
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Weight loss ORPHA:42642
Pyruvate Carboxylase Deficiency
Increased serum pyruvate, Hypoglycemia, Hepatomegaly, Hyperalaninemia OMIM:266150
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Delayed puberty, Abnormal liver parenchyma morphology, Hyperechogenic pancreas, Aplasia/Hypoplasi... ORPHA:456312
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, ... ORPHA:228305
Maternal Uniparental Disomy Of Chromosome 1
Hepatomegaly, Short stature, Failure to thrive, Growth delay, Type I diabetes mellitus ORPHA:251009
Macrophage Activation Syndrome
Hypertriglyceridemia, Decreased liver function, Hepatomegaly, Elevated circulating C-reactive pro... ORPHA:158061
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Steatorrhea, Steppage gait, Hypotriglyceridemia, Broad-b... ORPHA:14
Cardiomyopathy, Familial Restrictive, 6
Hepatic artery hyperplasia, Hepatomegaly, Portal vein hypoplasia, Ascites OMIM:619433
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Xanthelasma, Steatorrhea, Jaundice, Cirrhosis, Hepatome... ORPHA:186
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia OMIM:601198
Birk-Landau-Perez Syndrome
Hyperkalemia, Failure to thrive in infancy, Increased circulating creatine kinase MB isoform, Opt... OMIM:617595
Argininemia
Postnatal growth retardation, Hepatomegaly, Portal fibrosis, Reduced erythrocyte arginase activit... OMIM:207800
Distal Xq28 Microduplication Syndrome
Tip-toe gait, Neonatal hyperbilirubinemia, Recurrent upper respiratory tract infections ORPHA:293939
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Reduced level of N-acetylglucosaminyltransferase II, Hyperbilirubinemia, Increased ... OMIM:224120
Hyperlipoproteinemia, Type I
Lactescent serum, Jaundice, Increased circulating chylomicron concentration, Hyperlipidemia, Acut... OMIM:238600
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-... ORPHA:91547
Glycogen Storage Disease Ia
Delayed puberty, Xanthelasma, Enlarged kidney, Hepatomegaly, Elevated circulating hepatic transam... OMIM:232200
Familial Hypoaldosteronism
Hyperkalemia, Failure to thrive, Hyponatremia, Increased circulating renin level ORPHA:427
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Hepatic steatosis, Insulin-resistant diabetes m... ORPHA:435651
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Immunodeficiency 47
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased circu... OMIM:300972
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatic cysts, Hepatomegaly OMIM:617004
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin concentration, Lethargy, Neonatal hyperbilirubinemia ORPHA:90673
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Glucose intoler... OMIM:235200
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Abnorma... ORPHA:369840
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly OMIM:133180
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Decreased liver function, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc... ORPHA:367
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Cystic Echinococcosis
Multiple pulmonary cysts, Hyperbilirubinemia, Abnormal subpleural morphology, Pulmonary cyst ORPHA:400
Genetic Recurrent Myoglobinuria
Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase, Hyperkalemia ORPHA:99845
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Steatorrhea, Severe postnatal growth retardation, Cholestasis, Portal ... ORPHA:440713
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Short stature, Failure to thrive, Hepatosplenomegaly, Hepatic cysts OMIM:618999
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating long chain fatty acid concentration, Elevated circulating creatine kinase co... OMIM:608836
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90036
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly OMIM:603902
Pleural Mesothelioma
Hepatomegaly, Weight loss ORPHA:50251
Bachmann-Bupp Syndrome
Hyperbilirubinemia OMIM:619075
Liddle Syndrome 1
Decreased circulating renin level, Hypokalemia OMIM:177200
Immunodeficiency 42
Hepatomegaly, Splenomegaly OMIM:616622
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Hepatomegaly, Cholestasis, Ascites, Failure to thrive, Intrauterine gro... OMIM:608104
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Hepatomegaly, Chronic pancreatitis, Elevated circulating hepatic transamina... ORPHA:98908
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hyperbilirubinemia, Elevated circulating long chain fatty acid concentration OMIM:614886
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Short stature, Hepatomegaly, Postnatal growth retardation, Splenomegaly OMIM:620210
Niemann-Pick Disease, Type A
Hepatomegaly, Ascites, Elevated circulating alanine aminotransferase concentration, Short stature... OMIM:257200
Interstitial Lung And Liver Disease
Cirrhosis, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration... OMIM:615486
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased liver function, Hepatomegaly, Hyperornithinemia, Acute hepatitis, Hyperammonemia, Failu... OMIM:238970
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Pancreatitis, Maternal diabetes, Hyperuricemia, Sp... ORPHA:79083
Dehydrated Hereditary Stomatocytosis 2
Hyperbilirubinemia OMIM:616689
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Insulin r... ORPHA:435660
Cadds
Increased circulating very long-chain fatty acid concentration, Elevated circulating hepatic tran... ORPHA:369942
Peroxisome Biogenesis Disorder 3A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Hepatomegaly OMIM:614859
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Hyperbilirubinemia, Pancreatic hypoplasia, Cholestasis, Ascite... OMIM:615710
Familial Pseudohyperkalemia
Hyperkalemia ORPHA:90044
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Macrovesicular hepatic steatosis, Microvesicular hepatic steatosis, Elevated circul... OMIM:615595
Infantile Refsum Disease
Elevated circulating phytanic acid concentration, Failure to thrive, Hepatomegaly, Short stature ORPHA:772
Osteopetrosis, Autosomal Recessive 8
Failure to thrive, Hepatomegaly, Splenomegaly OMIM:615085
Citrullinemia, Classic
Elevated plasma citrulline, Cirrhosis, Hepatomegaly, Reduced tissue argininosuccinate synthetase ... OMIM:215700
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Splenomegaly OMIM:618852
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cholestatic liver disease, Hepatomegaly, Hypoketotic hypoglycemia, Failure to thrive, Hypoglycemia ORPHA:5
B4Galt1-Cdg
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Abnormal circulating enzym... ORPHA:79332
Pyruvate Carboxylase Deficiency
Hypertaurinemia, Tip-toe gait, Elevated plasma citrulline, Hyperglutamatemia, Increased serum pyr... ORPHA:3008
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal... OMIM:607626
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased circulating carn... OMIM:201450
Transaldolase Deficiency
Decreased liver function, Cirrhosis, Hepatomegaly, Failure to thrive, Hepatosplenomegaly, Splenom... OMIM:606003
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Neutral Lipid Storage Disease With Myopathy
Hypertriglyceridemia, Hepatomegaly, Chronic pancreatitis, Elevated circulating hepatic transamina... OMIM:610717
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia OMIM:609727
Fish-Eye Disease
Decreased HDL cholesterol concentration, Hepatomegaly, Splenomegaly ORPHA:79292
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Pancreatitis, Failure to thrive, Hyperammonemia, Splenomegaly ORPHA:79312
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Portal hypertension, Splenomegaly, Nodular regenerative hyperplasia of liver, Cholecystitis, Hepa... OMIM:620367
Nephronophthisis 2
Hyperkalemia, Elevated circulating creatinine concentration OMIM:602088
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Jaundice, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Hypokalemia, Ele... OMIM:613095
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbilirubinemia OMIM:300908
Glycogen Storage Disease Ib
Delayed puberty, Xanthelasma, Enlarged kidney, Hepatomegaly, Elevated circulating hepatic transam... OMIM:232220
Heme Oxygenase 1 Deficiency
Hepatomegaly, Elevated circulating C-reactive protein concentration, Elevated circulating alanine... OMIM:614034
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin concentration, Hypercholesterolemia, Lethargy, Neonatal hyperb... ORPHA:90674
Mitochondrial Trifunctional Protein Deficiency 1
Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, Cholestasis, E... OMIM:609015
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Growth delay, Elevated hepatic iron concentration, Splenomegaly, Elevated transferr... OMIM:615234
Meckel Syndrome, Type 3
Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate, Bile duct proliferation OMIM:607361
Bartter Syndrome, Type 5, Antenatal, Transient
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia OMIM:300971
Beta-Thalassemia
Abnormality of iron homeostasis, Hepatomegaly, Cholelithiasis, Splenomegaly, Hepatitis ORPHA:848
Congenital Rubella Syndrome
Jaundice, Hepatomegaly, Short stature, Splenomegaly, Intrauterine growth retardation, Type I diab... ORPHA:290
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cholestasis, Ascites, Prolonged neonatal jaundice, Acute hepatic failure, Micronodular cirrhosis,... OMIM:256810
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hypertriglyceridemia, Cholestatic liver disease, Cirrhosis, Hepatomegaly, Neonatal hypoglycemia, ... OMIM:619418
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Splenomegaly, Increased circulating ferritin concentratio... OMIM:194380
Congenital Disorder Of Glycosylation, Type Iil
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circul... OMIM:614576
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hypoketotic hypo... ORPHA:26793
Rh Deficiency Syndrome
Hyperbilirubinemia, Reduced haptoglobin level ORPHA:71275
Anemia, Congenital Dyserythropoietic, Type Iv
Hyperbilirubinemia, Reduced haptoglobin level, Unconjugated hyperbilirubinemia OMIM:613673
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Growth delay, Hyperammonemia, Hepatomegaly, Pancreatitis ORPHA:289916
Aredyld Syndrome
Hepatomegaly, Cachexia, Short stature, Splenomegaly, Type II diabetes mellitus, Intrauterine grow... ORPHA:1133
Dehydrated Hereditary Stomatocytosis
Abnormal blood potassium concentration, Increased circulating ferritin concentration, Increased t... ORPHA:3202
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia OMIM:185000
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Hepatomegaly, Hyperins... ORPHA:79086
Secondary Short Bowel Syndrome
Steatorrhea, Cholestasis, Growth delay, Failure to thrive, Weight loss, Abnormal blood ion concen... ORPHA:95427
Gaucher Disease Type 1
Delayed puberty, Cirrhosis, Hepatomegaly, Decreased HDL cholesterol concentration, Cholelithiasis... ORPHA:77259
Farber Lipogranulomatosis
Failure to thrive, Hepatomegaly, Decreased acid ceramidase activity, Splenomegaly OMIM:228000
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Periportal fibrosis, Decreased circulating carnitine concentration, Elevated circul... OMIM:201475
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Griscelli Syndrome
Abnormal circulating lipid concentration, Jaundice, Hepatomegaly, Ascites, Short stature, Splenom... ORPHA:381
Leishmaniasis
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Weight loss,... ORPHA:507
Hurler-Scheie Syndrome
Short stature, Hepatomegaly, Splenomegaly ORPHA:93476
Congenital Pulmonary Lymphangiectasia
Growth delay, Ascites, Hepatomegaly, Splenomegaly ORPHA:2414
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia ORPHA:73272
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Failure to thrive, Hepatomegaly, Splenomegaly OMIM:618495
Reynolds Syndrome
Steatorrhea, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Cal... OMIM:613471
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Hypercalcemia, Ascites ORPHA:2123
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Shor... ORPHA:98907
Hereditary Spherocytosis
Hyperbilirubinemia, Ataxia ORPHA:822
Fucosidosis
Cardiomegaly, Failure to thrive, Abnormality of the gallbladder, Hepatomegaly ORPHA:349
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Hypomagnesemia ORPHA:564178
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Delayed puberty, Postnatal growth retardation, Steatorrhea, Hepatomegaly, Short stature, Failure ... OMIM:616263
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Cholestatic liver disease, Decreased liver function, Jaundice, Elevated cir... ORPHA:540
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Ataxia, Inability to walk, Conjugated hyperbilirubinemia OMIM:608885
Combined Oxidative Phosphorylation Deficiency 53
Short stature, Failure to thrive, Hepatomegaly, Elevated circulating C-reactive protein concentra... OMIM:619423
Liddle Syndrome
Hypokalemia ORPHA:526
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia, Neonatal hyperbilirubinemia ORPHA:95232
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, El... ORPHA:562639
Osteootohepatoenteric Syndrome
Portal fibrosis, Increased serum bile acid concentration, Hypokalemia, Microvesicular hepatic ste... OMIM:619377
Combined Oxidative Phosphorylation Deficiency 4
Intrauterine growth retardation, Hyperammonemia, Hepatomegaly OMIM:610678
Renal Hypoplasia, Bilateral
Hyperkalemia, Failure to thrive, Hyponatremia, Small for gestational age ORPHA:97362
Propionic Acidemia
Hepatomegaly, Pancreatitis, Propionyl-CoA carboxylase deficiency, Short stature, Hyperammonemia, ... OMIM:606054
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Splenomegaly, Insulin resistance, Diabetes mell... ORPHA:2348
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Reduced tissue carnitine O-palmitoyltransferase 2 activit... ORPHA:157
Hypokalemic Periodic Paralysis
Mildly elevated creatine kinase, Episodic hypokalemia ORPHA:681
Symptomatic Form Of Hfe-Related Hemochromatosis
Cirrhosis, Hepatomegaly, Abnormality of iron homeostasis, Cardiomegaly, Hepatocellular carcinoma,... ORPHA:465508
Primary Sclerosing Cholangitis
Elevated circulating hepatic transaminase concentration, Cholestasis, Ascites, Acute hepatic fail... ORPHA:171
Graft Versus Host Disease
Pneumonia, Hyperbilirubinemia ORPHA:39812
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Weight loss OMIM:188580
Apparent Mineralocorticoid Excess
Failure to thrive, Decreased circulating renin level, Hypertensive retinopathy, Hypokalemia ORPHA:320