Gene Summary

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

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 alkaline phosphatase level Abcb11tm1b(EUCOMM)Hmgu HET Early adult 1.68×10-19
increased circulating alanine transaminase level Abcb11tm1a(EUCOMM)Hmgu HOM   Early adult 1.85×10-11
increased circulating unsaturated transferrin level Abcb11tm1b(EUCOMM)Hmgu HET Early adult 2.24×10-11
increased circulating potassium level Abcb11tm1a(EUCOMM)Hmgu HOM   Early adult 1.37×10-08
increased circulating fructosamine level Abcb11tm1b(EUCOMM)Hmgu HET Early adult 8.83×10-12
decreased circulating LDL cholesterol level Abcb11tm1a(EUCOMM)Hmgu HOM   Early adult 7.03×10-05
preweaning lethality, incomplete penetrance Abcb11tm1b(EUCOMM)Hmgu HOM   Early adult 0.0455
increased circulating iron level Abcb11tm1a(EUCOMM)Hmgu HOM   Early adult 3.24×10-06
increased circulating bilirubin level Abcb11tm1b(EUCOMM)Hmgu HET Early adult 0.00
hypoactivity Abcb11tm1b(EUCOMM)Hmgu HET   Early adult 3.08×10-06
abnormal retina morphology Abcb11tm1a(EUCOMM)Hmgu HOM Early adult 1.26×10-07
decreased circulating triglyceride level Abcb11tm1b(EUCOMM)Hmgu HET Early adult 3.07×10-05
increased circulating alkaline phosphatase level Abcb11tm1a(EUCOMM)Hmgu HOM   Early adult 0.00
increased circulating aspartate transaminase level Abcb11tm1a(EUCOMM)Hmgu HOM   Early adult 9.47×10-17
increased circulating amylase level Abcb11tm1b(EUCOMM)Hmgu HET Early adult 3.03×10-07
increased circulating amylase level Abcb11tm1a(EUCOMM)Hmgu HOM   Early adult 3.03×10-05
increased circulating aspartate transaminase level Abcb11tm1b(EUCOMM)Hmgu HET Early adult 7.31×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

X-ray

XRay Images Whole Body Dorso Ventral

13 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
Hypercholesterolemia, Cirrhosis, Intrahepatic cholestasis, Growth delay, Hyperbilirubinemia, Hype... OMIM:605814
Glycogen Storage Disease Vi
Hypercholesterolemia, Elevated hepatic transaminase, Hyperlipidemia, Postnatal growth retardation... OMIM:232700
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Steatorrhea, Hepatomegaly, Ja... OMIM:613812
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Proximal Myopathy With Focal Depletion Of Mitochondria
Elevated circulating creatine kinase concentration OMIM:600706
Charcot-Marie-Tooth Disease, Axonal, Type 2Y
Elevated circulating creatine kinase concentration OMIM:616687
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Intrahepatic cholestasis, Hyperbilirubinemia, Steatorrhea, Hepatom... OMIM:235555
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hyperbi... OMIM:607765
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hyperbilirubinemia... OMIM:214950
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Severe... OMIM:211600
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatocellular carcinoma, Conjugated hyperbilirubinemia, Hep... OMIM:601847
Myopathy, Vacuolar, With Casq1 Aggregates
Elevated circulating creatine kinase concentration OMIM:616231
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Elevated hepatic transaminase, Growth delay, Hypoglycemia, Hepatomegaly, Hy... OMIM:306000
Glycogen Storage Disease Xiii
Elevated circulating creatine kinase concentration OMIM:612932
Myopathy, Distal, Tateyama Type
Elevated circulating creatine kinase concentration OMIM:614321
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21
Elevated circulating creatine kinase concentration OMIM:617232
Cholestasis, Benign Recurrent Intrahepatic, 2
Intrahepatic cholestasis, Conjugated hyperbilirubinemia, Cholelithiasis, Hepatomegaly, Jaundice, ... OMIM:605479
Cholestasis, Intrahepatic, Of Pregnancy, 1
Elevated hepatic transaminase, Intrahepatic cholestasis, Abnormal liver function tests during pre... OMIM:147480
Cholestasis, Benign Recurrent Intrahepatic, 1
Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Hepatomegaly, Int... OMIM:243300
Cholestasis, Intrahepatic, Of Pregnancy 3
Jaundice, Intrahepatic cholestasis, Abnormal liver function tests during pregnancy, Increased ser... OMIM:614972
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Hypermethioninemia, Elevated hepatic transaminase OMIM:606664
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splen... OMIM:602347
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 8
Elevated circulating creatine kinase concentration OMIM:618135
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Hypertriglyceri... OMIM:614480
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Splenomegaly OMIM:619175
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Cholestasis, Progressive Familial Intrahepatic, 4
Cirrhosis, Intrahepatic cholestasis, Hepatocellular carcinoma, Hepatic failure, Portal hypertension OMIM:615878
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Hyperalaninemia, Elevated hepatic transaminase, Failure to thrive OMIM:614582
Caroli Disease
Cirrhosis, Intrahepatic cholestasis, Elevated circulating alanine aminotransferase concentration,... ORPHA:53035
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Platelet-Activating Factor Acetylhydrolase Deficiency
Increased level of platelet-activating factor, Platelet-activating factor acetylhydrolase deficiency OMIM:614278
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Malaria
Gait imbalance, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration ORPHA:673
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Mednik Syndrome
Decreased circulating ceruloplasmin concentration, Intrahepatic cholestasis, Decreased circulatin... ORPHA:171851
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatic steatosis, Intrahepatic cholestasis, Hypoglycemia, Hepatit... OMIM:614921
Cholestasis-Lymphedema Syndrome
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Conjugated hyperbil... OMIM:214900
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hyperkalemia OMIM:268200
Congenital Bile Acid Synthesis Defect Type 3
Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnormality, Hep... ORPHA:79302
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:3111
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Splenomegaly ORPHA:294
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Elevated alkaline phosphatase of ... OMIM:616828
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Hyponatremia, Increased circulating renin level, Incr... OMIM:610600
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154275
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Irida Syndrome
Intrahepatic cholestasis, Decreased circulating copper concentration ORPHA:209981
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Growth delay, Hyperlipidemia,... ORPHA:369
Glycogen Storage Disease Ixb
Hepatomegaly, Increased hepatic glycogen content, Short stature OMIM:261750
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hepatic steatosis, Hypertriglyceridemia, Abnormal circulating lipid concentration OMIM:615238
Hyperlipoproteinemia, Type Id
Hepatomegaly, Hyperlipoproteinemia, Failure to thrive, Splenomegaly OMIM:615947
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154276
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hypoglycemia, Cholest... OMIM:617156
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Retinitis Pigmentosa 59
Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Intrauterine growth retardation OMIM:613861
Rft1-Cdg
Hepatomegaly, Failure to thrive, Short stature ORPHA:244310
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
Somatostatinoma
Increased circulating cortisol level, Extrahepatic cholestasis, Abnormal abdomen morphology, Intr... ORPHA:97283
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia OMIM:179700
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Caroli Syndrome
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Conjugated hyperbilirubinemia... ORPHA:480520
Galactose Mutarotase Deficiency
Hypergalactosemia, Cholestasis, Hepatomegaly, Decreased liver function, Failure to thrive, Abnorm... ORPHA:570422
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Elevated hepatic transaminase, Hepatic steatosis, Elevated circulating alka... OMIM:616829
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Cholestasis, Hepatomegaly, Jaundice, Short stature, Splenomegaly, Failure to thrive ORPHA:172
Niemann-Pick Disease, Type B
Hepatomegaly, Hypertriglyceridemia, Short stature, Splenomegaly, Increased LDL cholesterol concen... OMIM:607616
Ppoma
Increased circulating cortisol level, Extrahepatic cholestasis, Abnormal abdomen morphology, Intr... ORPHA:97278
Myopathy, Distal, With Anterior Tibial Onset
Elevated circulating creatine kinase concentration OMIM:606768
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypocalcemia, Insulin resistance, Hepatic steatosis, Hepatomegaly, Hypertri... OMIM:612526
Mulibrey Nanism
Hepatomegaly, Cachexia, Short stature, Intrauterine growth retardation ORPHA:2576
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Short statu... OMIM:610717
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Cirrhosis, Hepatomegaly, Jaundice, Hypertriglyceridemia, Hepatic failure, S... ORPHA:75234
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Chronic hepatic fai... ORPHA:79303
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Hepatic cysts, Intrahepatic cholestasis with episodic jaundice, Ne... ORPHA:100085
Gracile Syndrome
Increased circulating ferritin concentration, Increased serum pyruvate, Increased serum iron OMIM:603358
Galactose Epimerase Deficiency
Growth delay, Weight loss, Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Vipoma
Increased circulating cortisol level, Extrahepatic cholestasis, Abnormal abdomen morphology, Intr... ORPHA:97282
Galactosemia Iii
Hypergalactosemia, Hepatomegaly, Jaundice, Failure to thrive, Splenomegaly OMIM:230350
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:145600
Late-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Hyponatremia, Increased circulating renin level, Hyperkalemia, A... ORPHA:556037
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Elevated circulating creatine kinase concentration OMIM:160570
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:203400
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Immunodeficiency 48
Hepatomegaly, Failure to thrive, Splenomegaly OMIM:269840
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnor... ORPHA:79301
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Growth delay, Hepatomegaly, Failure to thrive, Elevated circulatin... OMIM:615895
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Cirrhosis, Elevated hepatic transaminase, Growth delay, Hepatomegaly, Hyper... OMIM:613027
Grfoma
Increased circulating cortisol level, Extrahepatic cholestasis, Abnormal abdomen morphology, Intr... ORPHA:97261
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia OMIM:237800
Chylomicron Retention Disease
Hypotriglyceridemia, Steatorrhea, Hypocholesterolemia, Decreased LDL cholesterol concentration, H... OMIM:246700
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Insulin resistance, Hepatic steatosis, Hypertriglyceridemia, Type II diabet... OMIM:615703
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyperaldosteronism, Hyponatremia, Increased circulating renin level OMIM:177735
Early-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Hyponatremia, Increased circulating renin level, Hyperkalemia, A... ORPHA:556030
Glucagonoma
Increased circulating cortisol level, Extrahepatic cholestasis, Abnormal abdomen morphology, Intr... ORPHA:97280
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Gait disturbance, Incre... OMIM:616516
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hypoglycemia, Hepatic fibrosis, Hepatomegaly, Short stature, Eleva... OMIM:232400
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body ... ORPHA:890
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Conjugated hyperbilirubinemia, Chole... ORPHA:567983
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Elevated hepatic transaminase, Portal hypertension, Hyperb... OMIM:616278
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia OMIM:609016
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver, Intrauterine growth retardation ORPHA:1980
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Elevated circulating creatine kinase concentration, Optic atrophy, Retinal dysplasia OMIM:613154
Biliary Atresia, Extrahepatic
Increased total bilirubin, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahe... OMIM:210500
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Elevated hepatic transaminase, Hepatic steatosis, Postnatal growth retardation, Decreased liver f... OMIM:617093
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology ORPHA:3032
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostasis OMIM:613313
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Decreased plasma ... OMIM:619048
Cholestasis-Lymphedema Syndrome
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:1414
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Cirrhosis, Hepatocellular necrosis, Abnormality of ... OMIM:231100
Anemia, Congenital Dyserythropoietic, Type Iv
Hyperbilirubinemia OMIM:613673
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia OMIM:615158
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia OMIM:141000
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Lysosomal Acid Lipase Deficiency
Elevated circulating aspartate aminotransferase concentration, Cirrhosis, Hypercholesterolemia, D... OMIM:278000
Peroxisome Biogenesis Disorder 10A (Zellweger)
Hepatomegaly OMIM:614882
Lipoyltransferase 1 Deficiency
Increased total bilirubin, Dystonia OMIM:616299
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia OMIM:601775
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Abnormal magnesium concentration, Hypokalemia, Increased serum prostaglandin E2, Increased circul... OMIM:241150
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly OMIM:605911
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Intrauterine growth retardation, Short stature, Splenomegaly OMIM:618541
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Jaundice, Elevated circulating aspartate aminotransferase concentration OMIM:614876
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Bile Acid Conjugation Defect 1
Elevated circulating alanine aminotransferase concentration, Conjugated hyperbilirubinemia, Hepat... OMIM:619232
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Elevated hepatic transaminase, Cholestasis, Hepatomegaly, Jaundice, He... OMIM:618528
Liddle Syndrome 2
Decreased circulating renin level, Hypokalemia OMIM:618114
Lathosterolosis
Intrahepatic cholestasis, Hepatomegaly, Failure to thrive, Hepatic failure, Intrauterine growth r... ORPHA:46059
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased serum iron ORPHA:446
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Large for gestational age ORPHA:2432
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia OMIM:614736
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypokalemia, Hypertensive retinopathy OMIM:218030
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia OMIM:609734
Systemic Primary Carnitine Deficiency
Hepatomegaly, Elevated hepatic transaminase ORPHA:158
Farber Disease
Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Hepatic fibrosis,... ORPHA:333
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hepatomegaly, Jaundice, Hypertriglyceridemia, Splen... OMIM:603552
Multiple Symmetric Lipomatosis
Hepatomegaly, Insulin resistance ORPHA:2398
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Failure to thrive, Splenomegaly OMIM:618495
Glycogen Storage Disease Due To Aldolase A Deficiency
Elevated creatine kinase after exercise, Hyperkalemia ORPHA:57
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Hypoglycemia, Failure to thrive ORPHA:67046
Immunodeficiency 47
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jau... OMIM:300972
Liver Failure, Infantile, Transient
Hyperbilirubinemia OMIM:613070
Galactokinase Deficiency
Hypercholesterolemia, Hyperinsulinemia, Increased level of galactitol in plasma, Hypergalactosemi... ORPHA:79237
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Congenital Bile Acid Synthesis Defect Type 4
Cirrhosis, Biliary tract abnormality, Cholestasis, Hepatomegaly, Type II diabetes mellitus ORPHA:79095
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, Failure to thrive secondary to recurrent infections, Splenomegaly OMIM:608971
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Liddle Syndrome 3
Hypokalemia OMIM:618126
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly ORPHA:46532
Gallbladder Disease 1
Elevated hepatic transaminase, Cholesterol gallstones, Cholelithiasis, Hepatic fibrosis, Jaundice... OMIM:600803
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Increased serum iron, Unconjugated hyperbilirubinem... ORPHA:766
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Acute hepatic failure, Splenomegaly ORPHA:882
Sclerosing Cholangitis, Neonatal
Cirrhosis, Elevated hepatic transaminase, Sclerosing cholangitis, Biliary cirrhosis, Cholestasis,... OMIM:617394
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Jaundice,... OMIM:301045
Combined Oxidative Phosphorylation Deficiency 34
Hepatic steatosis, Hypoglycemia, Hepatomegaly, Failure to thrive, Hepatic failure OMIM:617872
Congenital Disorder Of Glycosylation, Type Ii
Hepatomegaly OMIM:607906
Heme Oxygenase 1 Deficiency
Hepatomegaly, Growth delay OMIM:614034
Hypermanganesemia With Dystonia 1
Increased total iron binding capacity, Dystonia, Bradykinesia, Steppage gait, Unconjugated hyperb... OMIM:613280
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Type I diabetes melli... OMIM:618549
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hyperbilirubinemia, Hypermethioninemia OMIM:614300
Lathosterolosis
Elevated hepatic transaminase, Intrahepatic cholestasis, Growth delay, Hyperbilirubinemia, Biloba... OMIM:607330
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Lethargy ORPHA:95717
Isolated Biliary Atresia
Xanthelasma, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Elevated gamma-glutam... ORPHA:30391
Aceruloplasminemia
Increased circulating ferritin concentration, Decreased serum iron, Aceruloplasminemia, Retinal d... OMIM:604290
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyponatremia, Hyperaldosteronism OMIM:264350
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis, Failure to thrive OMIM:618234
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Myopathy Due To Malate-Aspartate Shuttle Defect
Elevated circulating creatine kinase concentration OMIM:254960
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypercholesterolemia, Hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic steatosis... ORPHA:209902
Wolman Disease
Growth delay, Steatorrhea, Hepatomegaly, Ascites, Hepatic failure, Splenomegaly, Cachexia ORPHA:75233
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Short stature, Splenomegaly ORPHA:417
Hyperkalemic Periodic Paralysis
Elevated circulating creatine kinase concentration, Hypokalemia, Hyponatremia, Hyperkalemia ORPHA:682
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Hepatic failure ORPHA:60
Congenital Disorder Of Glycosylation, Type Iik
Elevated hepatic transaminase, Growth delay, Hepatomegaly, Failure to thrive, Short stature, Elev... OMIM:614727
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hepatomegaly, Hypertriglyceridemia, Increased circulating chylomicron conce... OMIM:207750
Fanconi-Bickel Syndrome
Hypophosphatemia, Fasting hypoglycemia, Postprandial hyperglycemia, Hepatocellular carcinoma, Ele... ORPHA:2088
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hypoketotic hypoglycemia, Hepatomegaly, Cardiom... OMIM:255120
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Hyponatremia, Increased circulating renin level, Glucocortocoid-insensitive primary... ORPHA:171876
Hemochromatosis Type 2
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Elevated transferr... ORPHA:79230
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Sandhoff Disease
Hepatomegaly, Failure to thrive, Splenomegaly ORPHA:796
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin level, Conjugated hyperbilirubinemia ORPHA:95715
African Iron Overload
Peritonitis, Micronodular cirrhosis, Increased circulating ferritin concentration, Increased circ... ORPHA:139507
Congenital Disorder Of Glycosylation, Type In
Hepatomegaly, Failure to thrive, Short stature OMIM:612015
Dimethylglycine Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration ORPHA:243343
Harderoporphyria
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia OMIM:618892
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Steatorrhea, Hepatomegaly, Jaundice, Failure to thrive, Spleno... OMIM:612714
Budd-Chiari Syndrome
Peritonitis, Cirrhosis, Elevated hepatic transaminase, Cholecystitis, Acute hepatic failure, Weig... ORPHA:131
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Cirrhosis, Fasting hypoglycemia, Elevated hepatic transaminase, Hepatocellu... ORPHA:370
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... OMIM:251880
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Acute pancreatitis, Hepatomegaly, Hypertriglyceridemia, Hype... OMIM:608600
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Cirrhosis, Elevated hepatic transaminase, Conjugate... OMIM:616860
Carnitine Deficiency, Systemic Primary
Decreased plasma carnitine, Elevated hepatic transaminase, Hepatic steatosis, Recurrent hypoglyce... OMIM:212140
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Hepatic steatosis, Insulin-resistant diabetes mellitus, Hepatomegaly, Hypertr... ORPHA:79085
Hemoglobin H Disease
Hepatomegaly, Splenomegaly OMIM:613978
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Retinal d... OMIM:312700
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... OMIM:144250
Lambert Syndrome
Failure to thrive in infancy, Intrauterine growth retardation, Cholestasis, Jaundice, Intrahepati... ORPHA:1296
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Delayed puberty, Elevated circulating creatine kinase concentration, Abnorm... ORPHA:264580
Acth Deficiency, Isolated
Fasting hypoglycemia, Jaundice, Decreased circulating cortisol level, Cholestasis OMIM:201400
Dimethylglycine Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Elevated N,N-dimethylglycine level OMIM:605850
Mitochondrial Myopathy, Infantile, Transient
Decreased plasma carnitine, Increased serum pyruvate, Hepatomegaly, Failure to thrive, Elevated c... OMIM:500009
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Focal pancreatic islet hyperplasia, Hyperinsulinemic... ORPHA:276575
Infantile Liver Failure Syndrome 3
Elevated hepatic transaminase, Hepatic steatosis, Hepatic bridging fibrosis, Acute hepatic failur... OMIM:618641
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Weight loss, Splenomegaly ORPHA:86893
Developmental And Epileptic Encephalopathy 36
Hepatomegaly OMIM:300884
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Growth delay, Cholestasis, Delayed puberty, Failure to t... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Growth delay, Cholestasis, Delayed puberty, Failure to t... ORPHA:71526
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly OMIM:616719
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Macrovesicular hepati... OMIM:256810
Benign Recurrent Intrahepatic Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Cholelithiasis, Weight loss, ... ORPHA:65682
Peroxisome Biogenesis Disorder 3B
Hepatomegaly, Failure to thrive, Steatorrhea, Hypocholesterolemia OMIM:266510
Hypobetalipoproteinemia, Familial, 1
Decreased LDL cholesterol concentration, Rod-cone dystrophy, Retinal degeneration OMIM:615558
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hepatomegaly, Hypertriglyceridemia, Hepatitis, Sple... OMIM:300635
Liddle Syndrome 1
Decreased circulating renin level, Hypokalemia OMIM:177200
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice OMIM:613977
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Trichohepatoenteric Syndrome 2
Cirrhosis, Hepatomegaly, Decreased serum iron, Hepatitis, Small for gestational age, Failure to t... OMIM:614602
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Hepatomegaly, Pancreatitis, Diabetes mel... ORPHA:79084
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Hypok... ORPHA:276556
Congenital Toxoplasmosis
Elevated hepatic transaminase, Failure to thrive in infancy, Hepatomegaly, Jaundice, Cardiomegaly... ORPHA:858
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia, Biliary tract abnormality, Hepatomegaly, Jaundice, Abnormality of ... ORPHA:234
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Splenomegaly OMIM:606445
Peroxisome Biogenesis Disorder 13A (Zellweger)
Hepatomegaly, Jaundice, Cholestasis OMIM:614887
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Growth delay, Increased circulating ferritin concentration, Splenomegaly OMIM:615234
Combined Oxidative Phosphorylation Deficiency 1
Hepatomegaly, Fulminant hepatic failure, Intrauterine growth retardation, Cholestasis OMIM:609060
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Lethargy ORPHA:95716
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hyperinsulinemic hypoglycemia, Hepatic fibrosis, Hepatomegaly, Hypoalbuminemia, Failur... OMIM:602579
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Klatskin Tumor
Extrahepatic cholestasis, Weight loss, Hepatomegaly, Jaundice, Cholangiocarcinoma ORPHA:99978
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia, Ataxia ORPHA:713
Propionic Acidemia
Hepatomegaly, Propionyl-CoA carboxylase deficiency, Hyperammonemia, Hypoglycemia ORPHA:35
Lcat Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly ORPHA:650
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Hepatic failure, Transient hyperlipidemia ORPHA:156
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Hepatic fibrosis, Cirrhosis, Growth delay, Cholestasis OMIM:609313
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Decreased liver function OMIM:614870
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Failure to thrive, Splenomegaly OMIM:615285
Spherocytosis, Type 4
Hyperbilirubinemia OMIM:612653
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Increased circulating renin level, Hypochloremia OMIM:300971
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Increas... OMIM:267700
Nephronophthisis 19
Cholestasis, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Bile duct proliferation OMIM:616217
Galactosemia I
Increased level of galactitol in red blood cells, Cirrhosis, Increased level of galactitol in pla... OMIM:230400
Hypokalemic Periodic Paralysis
Mildly elevated creatine kinase, Episodic hypokalemia ORPHA:681
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Jaundice, Splenomegaly, Cholecystitis, Intrauterine growth retardation, Unconjuga... OMIM:266200
Facioscapulohumeral Dystrophy
Elevated circulating creatine kinase concentration, Abnormal retinal vascular morphology ORPHA:269
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Hyperammonemia, Failure to thrive ORPHA:28
Citrullinemia Type Ii
Hypercholesterolemia, Decreased body mass index, Hypoproteinemia, Elevated hepatic transaminase, ... ORPHA:247585
Cholestasis, Progressive Familial Intrahepatic, 5
Cirrhosis, Elevated hepatic transaminase, Hypoglycemia, Jaundice, Failure to thrive, Hepatic fail... OMIM:617049
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis ORPHA:75563
Gracile Syndrome
Increased circulating ferritin concentration, Cirrhosis, Decreased transferrin saturation, Hepati... ORPHA:53693
Pyruvate Dehydrogenase E3 Deficiency
Decreased plasma carnitine, Elevated hepatic transaminase, Elevated plasma branched chain amino a... ORPHA:2394
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Failure to thrive... OMIM:618805
Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:427
Amyloidosis, Familial Visceral
Hepatomegaly, Splenomegaly, Cholestasis OMIM:105200
Birk-Landau-Perez Syndrome
Hyperkalemia OMIM:617595
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hypoketotic hypoglycemia, Increased circulating lactate dehydrogen... OMIM:600649
Alpha-Heavy Chain Disease
Hypocalcemia, Growth delay, Hepatomegaly, Ascites, Splenomegaly ORPHA:100025
Familial Pseudohyperkalemia
Hyperkalemia ORPHA:90044
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Hepatomegaly, Growth delay, Elevated circulating creatine kinase concentration, Delayed puberty OMIM:615704
Glycogen Storage Disease Vii
Increased total bilirubin, Hyperuricemia OMIM:232800
Leber Congenital Amaurosis 1
Hepatomegaly, Growth delay, Hyperthreoninemia OMIM:204000
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Immunodeficiency 54
Postnatal growth retardation, Hepatomegaly, Short stature, Splenomegaly, Intrauterine growth reta... OMIM:609981
Mitochondrial Complex I Deficiency, Nuclear Type 3
Hepatomegaly OMIM:618224
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Failure to thrive in infancy, Hepatomegaly, Hyperalaninemia, Cardi... OMIM:619064
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia OMIM:608885
Gaucher Disease, Type Iii
Decreased beta-glucocerebrosidase level, Decreased body weight, Hepatomegaly, Short stature, Sple... OMIM:231000
Congenital Disorder Of Glycosylation, Type Iij
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alkaline phosphatase... OMIM:613489
Disorder Of Bile Acid Synthesis
Abnormality of the liver, Elevated hepatic transaminase, Biliary tract abnormality, Cholestasis ORPHA:79168
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Hepatomegaly, Ascites, Weight loss ORPHA:2198
Wilson Disease
Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failu... ORPHA:905
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Macrovesicular hepatic steatosis, Failure to thrive, Cholestasis OMIM:614924
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia, Hyperactivity OMIM:609727
Combined Oxidative Phosphorylation Deficiency 47
Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Failure to thrive, Intrauterine growth... OMIM:618958
Spherocytosis, Type 1
Hyperbilirubinemia OMIM:182900
Anemia, Congenital Dyserythropoietic, Type Ib
Growth delay, Hepatomegaly, Jaundice, Short stature, Splenomegaly OMIM:615631
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Insulin-resistant diabetes mellitus, Hepatomegaly, Hypertriglyceridemia, Pancr... ORPHA:435651
Mast Cell Sarcoma
Hepatomegaly, Weight loss, Splenomegaly ORPHA:66661
Hodgkin Lymphoma
Hepatomegaly, Weight loss, Splenomegaly ORPHA:98293
Spherocytosis, Type 2
Hyperbilirubinemia OMIM:616649
Coproporphyria, Hereditary
Hepatomegaly, Jaundice, Splenomegaly OMIM:121300
Hyperaldosteronism, Familial, Type Iii
Decreased circulating renin level, Hypokalemia, Hyperaldosteronism OMIM:613677
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hepatomegaly, Failure to thrive, Hyperammonemia, Short stature OMIM:604273
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hepatomegaly, Growth delay, Elevated hepatic transaminase, Failure to thrive OMIM:613561
Dihydrolipoamide Dehydrogenase Deficiency
Hepatomegaly, Decreased liver function, Elevated hepatic transaminase, Hypoglycemia OMIM:246900
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Intrauterine growth retardation, Splenomegaly OMIM:608540
Liddle Syndrome
Hypokalemia ORPHA:526
Infantile Liver Failure Syndrome 1
Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failure, Hepatomegaly, Failure to... OMIM:615438
Griscelli Syndrome Type 2
Hepatomegaly, Jaundice, Hyperlipidemia, Splenomegaly ORPHA:79477
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Hepatic lobular inflammation, Elevated hepatic tran... ORPHA:101330
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Hepatom... ORPHA:528
Dysplastic Cortical Hyperostosis
Hepatomegaly, Short stature, Splenomegaly ORPHA:2204
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Cirrhosis, Hepatomegaly, Splenomegaly, Increased se... OMIM:602390
Duodenal Neuroendocrine Tumor
Elevated hepatic transaminase, Extrahepatic cholestasis, Insulinoma, Intrahepatic cholestasis wit... ORPHA:100076
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia OMIM:269920
Mu-Heavy Chain Disease
Hepatomegaly, Weight loss, Splenomegaly ORPHA:100024
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia OMIM:185000
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Elevated hepatic transaminase, Diffuse hepatic steatosis OMIM:264470
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Hypocholesterolemia OMIM:616834
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Elevated hepatic transaminase, Hyperinsuline... ORPHA:263455
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Farber Lipogranulomatosis
Hepatomegaly, Failure to thrive, Splenomegaly OMIM:228000
Congenital Disorder Of Glycosylation, Type Ih
Cholestasis, Hepatomegaly, Decreased liver function, Ascites, Failure to thrive, Hypoalbuminemia,... OMIM:608104
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Increased serum pyruvate, Hypoglycemia OMIM:614741
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Glucose intolerance, Impaired glucose tolerance, Cholestasis, Hepatic fibrosis, Hepatomegaly, Hep... OMIM:615630
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Abnormality of circulating cortisol level, Hypokalemia, Hypert... ORPHA:320
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Hepatomegaly, Mildly elevated creatine kinase, Decreased plasma carnitine, Abnormality of the liver ORPHA:254864
Candidiasis, Familial, 2
Decreased serum iron OMIM:212050
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Extrahepatic cholestasis, Weight loss, Biliary tract obstruction, Elevate... ORPHA:100086
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:73272
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly OMIM:607685
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Hepatic steatosis, Insulin-resistant diabetes mellitus, Hepatomegaly, Hypertr... ORPHA:435660
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90037
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Insulin resistance, Hepatic steatosis, Hepatomegaly, Hypertriglyce... OMIM:615381
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Cholestasis, Hepatomegaly, Jaundice, Splenomegaly, Portal hypertension ORPHA:59303
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability
Hypomagnesemia, Episodic hypokalemia ORPHA:564178
Pediatric Hepatocellular Carcinoma
Hepatic fibrosis, Hepatic necrosis, Elevated alpha-fetoprotein, Hepatomegaly ORPHA:33402
Bachmann-Bupp Syndrome
Hyperbilirubinemia, Attention deficit hyperactivity disorder OMIM:619075
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatomegaly, Hepatic cysts OMIM:617004
Peroxisome Biogenesis Disorder 7A (Zellweger)
Hepatomegaly, Jaundice OMIM:614872
Dysbetalipoproteinemia
Hypercholesterolemia, Xanthelasma, Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Hypertrig... ORPHA:412
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Failure to thrive, Splenomegaly OMIM:615085
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Hepatic steatosis, Abnormal circulating creatine kinase concentration, Elevated hep... ORPHA:369840
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Jaundice, Pigment gallstones, Splenomegaly, Cholecystitis, Decreased glucosephosp... OMIM:613470
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Hepatomegaly, Hypertriglyceri... ORPHA:363400
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Decreased plasma total carnitine, Elevated hepatic transaminase, Hepatic steatosis, Hypoketotic h... ORPHA:228305
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Lactescent serum, Increased circulating chylomicron concentration, Jaundice... OMIM:238600
Ectopic Aldosterone-Producing Tumor
Decreased circulating renin level, Hypokalemia, Glucocortocoid-insensitive primary hyperaldostero... ORPHA:231632
Aicardi-Goutieres Syndrome 4
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Intrauterine growth retardation, Hepat... OMIM:610333
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Hyperbilirubinemia, Cholelithiasis, Jaundice, Splenomegaly, Cholecystitis OMIM:235700
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Hepatomegaly, Failure to thrive, Short stature, Intrauterine growth retardation ORPHA:50812
Galactosemia
Cirrhosis, Elevated hepatic transaminase, Increased level of galactitol in plasma, Hypergalactose... ORPHA:352
Glycogen Storage Disease Xii
Cholecystitis, Cholelithiasis, Jaundice, Delayed puberty, Short stature, Splenomegaly OMIM:611881
Pyruvate Carboxylase Deficiency
Hepatomegaly, Increased serum pyruvate, Hyperalaninemia, Hypoglycemia OMIM:266150
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperkalemia, Hyperphosphatemia ORPHA:423
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased plasma total carnitine, Elevated hepatic transaminase, Hepatic steatosis, Hypoglycemia,... ORPHA:42
Dehydrated Hereditary Stomatocytosis 2
Hyperbilirubinemia OMIM:616689
Intrahepatic Cholestasis Of Pregnancy
Elevated hepatic transaminase, Hyperbilirubinemia, Jaundice, Abnormality of the pancreas, Elevate... ORPHA:69665
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia ORPHA:98870
Wolcott-Rallison Syndrome
Difficulty walking, Hyperbilirubinemia, Hyponatremia, Hypoalbuminemia, Hyperammonemia ORPHA:1667
Maternal Uniparental Disomy Of Chromosome 1
Growth delay, Hepatomegaly, Type I diabetes mellitus, Failure to thrive, Short stature ORPHA:251009
Hyperbiliverdinemia
Decreased liver function, Cholelithiasis, Cholestasis OMIM:614156
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hypoglycemia, Glycosuria, Hepatomegaly, Short stature, Diabetes mellitus, Large for... OMIM:616026
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Low alkaline phosphatase, Hepatomegaly, Splenomegaly, Failure to thrive, Short stature OMIM:201100
Medullary Thyroid Carcinoma
Weight loss, Abnormal liver parenchyma morphology ORPHA:1332
Pfapa Syndrome
Hepatomegaly, Weight loss, Splenomegaly ORPHA:42642
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Cirrhosis, Elevated hepatic transaminase, Glucose i... OMIM:235200
Diabetes Insipidus, Neurohypophyseal Type
Hypokalemia OMIM:304900
Familial Chylomicronemia Syndrome
Hepatic steatosis, Decreased body weight, Recurrent pancreatitis, Acute pancreatitis, Jaundice, H... ORPHA:444490
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hyponat... OMIM:603553
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Increased serum iron OMIM:604250
Abetalipoproteinemia
Gait ataxia, Hypotriglyceridemia, Hyperbilirubinemia, Ataxia, Hypocholesterolemia, Decreased LDL ... ORPHA:14
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hyperbilirubinemia, Elevated circulating long chain fatty acid concentration OMIM:614886
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90036
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529799
Pyruvate Carboxylase Deficiency
Dystonia, Hypernatremia, Hypoglutaminemia, Increased serum pyruvate, Increased level of L-glutami... ORPHA:3008
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypomagnesemia, Hypokalemia OMIM:618314
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly OMIM:133180
Bartter Syndrome, Type 3
Increased circulating renin level, Hyperaldosteronism, Abnormal choroid morphology, Hypokalemia, ... OMIM:607364
Hypothyroidism Due To Tsh Receptor Mutations
Neonatal hyperbilirubinemia, Lethargy, Increased circulating thyroglobulin level ORPHA:90673
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Elevated... OMIM:617713
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia, Tip-toe gait, Attention deficit hyperactivity disorder ORPHA:293939
Maternal Uniparental Disomy Of Chromosome 4
Pigmentary retinopathy, Abetalipoproteinemia, Hypocholesterolemia, Decreased LDL cholesterol conc... ORPHA:96180
Hypomagnesemia 2, Renal
Hypomagnesemia, Hypokalemia OMIM:154020
Cystic Echinococcosis
Peritoneal abscess, Elevated hepatic transaminase, Hepatic cysts, Abnormality of the peritoneum, ... ORPHA:400
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
Argininemia
Micronodular cirrhosis, Postnatal growth retardation, Cholestasis, Hepatomegaly, Hyperargininemia... OMIM:207800
Reynolds Syndrome
Elevated hepatic transaminase, Biliary cirrhosis, Hyperbilirubinemia, Steatorrhea, Hepatomegaly, ... OMIM:613471
Retinitis Pigmentosa And Erythrocytic Microcytosis
Photoreceptor layer loss on macular OCT, Retinal atrophy, Retinal pigment epithelial atrophy, Epi... OMIM:616959
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Lethargy, Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin l... ORPHA:90674
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Low plasma citrulline, Fasting hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Hypogly... OMIM:261680
Transaldolase Deficiency
Micronodular cirrhosis, Cirrhosis, Hepatic fibrosis, Hepatomegaly, Decreased liver function, Smal... OMIM:606003
Infantile Refsum Disease
Hepatomegaly, Elevated levels of phytanic acid, Failure to thrive, Short stature ORPHA:772
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Hepatomegaly, Mild postnatal growth r... ORPHA:456312
Metachromatic Leukodystrophy
Gallbladder dysfunction, Cholecystitis OMIM:250100
Erythrocytosis, Familial, 8
Jaundice, Cholecystitis, Cholelithiasis, Splenomegaly OMIM:222800
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Splenomegaly OMIM:618852
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Hepatic cysts, Failure to thrive, Short stature, Hepatosplenomegaly OMIM:618999
Primary Unilateral Adrenal Hyperplasia
Decreased circulating renin level, Hypokalemia, Glucocortocoid-insensitive primary hyperaldostero... ORPHA:231580
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Conjugated hyperbilirubinemia OMIM:613404
Solute carrier family 4 (anion exchanger), member 1
Hyperbilirubinemia OMIM:109270
Pleural Mesothelioma
Hepatomegaly, Weight loss ORPHA:50251
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Increased total bilirubin, Neonatal hyperbilirubine... ORPHA:3202
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Acute hepatitis, Hyperornithinemia, Hepatomegaly, Decreased liver function, Failure to thrive, Hy... OMIM:238970
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Maternal diabetes, Insulin resistance, Hepatic steatosis, Hyperuricemia, Insulin-resis... ORPHA:79083
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Decreased circulating renin level, Hypokalemia, Increased circulating cortisol level, Glucocortoc... ORPHA:231625
Squalene Synthase Deficiency
Elevated circulating methylsuccinic acid concentration, Hypocholesterolemia, Decreased LDL choles... OMIM:618156
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyperkalemia, Decreased circulating cortisol level, Hyponatremia, Increased circulating renin level ORPHA:90791
Glycogen Storage Disease Ia
Xanthelasma, Elevated hepatic transaminase, Enlarged kidney, Hepatocellular carcinoma, Hyperurice... OMIM:232200
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Decreased plasma carnitine, Elevated hepatic transaminase, Hepatic steatosis, Hypoglycemia, Hepat... OMIM:201450
Congenital Rubella Syndrome
Hepatomegaly, Jaundice, Type I diabetes mellitus, Short stature, Splenomegaly, Intrauterine growt... ORPHA:290
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Ascites, Hepati... ORPHA:367
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia OMIM:613239
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-... ORPHA:91547
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hypoglycemia, Hepatomegaly, Cholestatic liver disease, Failure to thrive ORPHA:5
Beta-Thalassemia
Abnormality of iron homeostasis, Cholelithiasis, Hepatomegaly, Hepatitis, Splenomegaly ORPHA:848
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly OMIM:614859
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia OMIM:259720
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased circulating ferritin concentration, Cholelithiasis, Hepatomegaly, Jaundice, Hepatitis, ... OMIM:194380
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Intrauterine growth retardation, Splenomegaly OMIM:615846
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia OMIM:188580
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia OMIM:602722
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased LDL cholesterol concentration, Hypocholesterolemia OMIM:256840
Fish-Eye Disease
Hepatomegaly, Decreased HDL cholesterol concentration, Splenomegaly ORPHA:79292
Babesiosis
Hepatomegaly, Jaundice, Hepatic failure, Splenomegaly ORPHA:108
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia, Steatorrhea, Cholestasis, Hepatitis, Cholestatic liver disease, Short... ORPHA:440713
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Abnormal circulating lipid co... ORPHA:79086
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Splenomegaly, Failure to thrive, Pancreatitis, Hyperammonemia ORPHA:79312
Glycogen Storage Disease Ib
Xanthelasma, Elevated hepatic transaminase, Enlarged kidney, Hepatocellular carcinoma, Hyperurice... OMIM:232220
Hereditary Elliptocytosis
Neonatal hyperbilirubinemia, Hyperbilirubinemia ORPHA:288
Aredyld Syndrome
Hepatomegaly, Type I diabetes mellitus, Cachexia, Short stature, Splenomegaly, Intrauterine growt... ORPHA:1133
Neuroleptic Malignant Syndrome
Hypocalcemia, Hypernatremia, Hyponatremia, Elevated circulating creatine kinase concentration, Hy... ORPHA:94093
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Jaundice OMIM:613839
Cystic Fibrosis
Hepatomegaly, Biliary cirrhosis, Exocrine pancreatic insufficiency ORPHA:586
Macrocephaly/Autism Syndrome
Hepatomegaly, Obesity, Splenomegaly OMIM:605309
East Syndrome
Hypomagnesemia, Hyperaldosteronism, Hypokalemia, Increased circulating renin level ORPHA:199343
Congenital Disorder Of Glycosylation, Type Iil
Cirrhosis, Elevated hepatic transaminase, Growth delay, Elevated circulating creatine kinase conc... OMIM:614576
Neutral Lipid Storage Myopathy
Abnormal circulating creatine kinase concentration, Elevated hepatic transaminase, Chronic pancre... ORPHA:98908
Griscelli Syndrome
Abnormal circulating lipid concentration, Hepatomegaly, Jaundice, Hepatitis, Ascites, Short statu... ORPHA:381
Zinc Deficiency, Transient Neonatal
Decreased serum zinc OMIM:608118
Renal Tubular Acidosis Iii
Hypokalemia OMIM:267200
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Hyperaldosteronism, Hypochloremia OMIM:214700
Mitchell-Riley Syndrome
Hyperglycemia, Annular pancreas, Biliary atresia, Hyperbilirubinemia, Cholestasis, Pancreatic hyp... OMIM:615710
Interstitial Lung And Liver Disease
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Decreased liver functi... OMIM:615486
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Aceruloplasminemia
Increased circulating ferritin concentration, Abnormality of retinal pigmentation, Decreased circ... ORPHA:48818
Hereditary Spherocytosis
Hyperbilirubinemia, Ataxia ORPHA:822
Meckel Syndrome, Type 3
Hepatic fibrosis, Bile duct proliferation, Malformation of the hepatic ductal plate, Hepatomegaly OMIM:607361
Thyrotoxic Periodic Paralysis
Mildly elevated creatine kinase, Transient hypophosphatemia, Episodic hypokalemia, Hypomagnesemia... ORPHA:79102
Sialidosis Type 2
Hepatomegaly, Ascites, Short stature, Splenomegaly ORPHA:87876
Chylomicron Retention Disease
Retinopathy, Steatorrhea, Hypocholesterolemia ORPHA:71
Acute Adrenal Insufficiency
Decreased circulating cortisol level, Hyponatremia, Hyperuricemia, Increased circulating renin le... ORPHA:95409
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Conjugated hyperbilirubinemia OMIM:208085
Familial Partial Lipodystrophy, Dunnigan Type
Insulin resistance, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Pancreatitis, Splenome... ORPHA:2348
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Hypercalcemia, Ascites ORPHA:2123
Leishmaniasis
Elevated hepatic transaminase, Weight loss, Hepatomegaly, Hypoalbuminemia, Splenomegaly ORPHA:507
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Cirrhosis, Abnormality of iron homeostasis, Hepatoc... ORPHA:465508
Hurler-Scheie Syndrome
Hepatomegaly, Short stature, Splenomegaly ORPHA:93476
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased plasma carnitine, Hepatocellular necrosis, Hepatic steatosis, Periportal fibrosis, Nonk... OMIM:201475
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Lethargy, Decreased plasma total carnitine, Decreased plasma free carn... OMIM:608836
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Growth delay, Hyperammonemia, Pancreatitis