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Gene: Bpnt1 MGI:1338800

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

3'(2'), 5'-bisphosphate nucleotidase 1

Synonyms:

bisphosphate 3'-nucleotidase 1, BPntase

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Bpnt1 mutations

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

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

Human diseases associated with Bpnt1 (0 diseases)
Human diseases predicted to be associated with Bpnt1 (460 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Bpnt1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619868
Glycogen Storage Disease Xiii	Elevated circulating creatine kinase concentration	OMIM:612932
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level	ORPHA:2843
Proximal Myopathy With Focal Depletion Of Mitochondria	Elevated circulating creatine kinase concentration	OMIM:600706
Muscle Cramps, Familial	Elevated circulating creatine kinase concentration	OMIM:158400
Cramps, Familial Adolescent	Elevated circulating creatine kinase concentration	OMIM:218050
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Elevated circulating aspartate aminotransferase...	OMIM:613752
Diarrhea 13	Elevated hepatic transaminase, Hepatic steatosis, Hypoalbuminemia	OMIM:620357
Glycine N-Methyltransferase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia	OMIM:606664
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia, Edema	OMIM:600995
Pancreatic insufficiency, combined exocrine	Anasarca, Hypoproteinemia, Exocrine pancreatic insufficiency	OMIM:260450
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619874
Analbuminemia	Edema, Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, H...	OMIM:616000
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia, Edema	OMIM:614652
Myopathy, Vacuolar, With Casq1 Aggregates	Elevated circulating creatine kinase concentration	OMIM:616231
Focal Segmental Glomerulosclerosis 1	Edema, Hyperlipidemia, Hypoalbuminemia, Pleural effusion, Ascites	OMIM:603278
Nephrotic Syndrome, Type 9	Hypoalbuminemia, Edema	OMIM:615573
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia, Edema	OMIM:614131
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Palpebral edema, Edema, Facial edema, Hyperlipidemia, Pedal edema, Anasarca, Hypoalbuminemia, Ple...	ORPHA:567546
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Secondary Intestinal Lymphangiectasia	Intestinal lymphedema, Edema, Lymphedema, Reduced circulating transferrin concentration, Chylous ...	ORPHA:90363
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Hypoproteinemia, Generalized edema	OMIM:207731
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Cardiomegaly	ORPHA:88643
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 8	Elevated circulating creatine kinase concentration	OMIM:618135
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Polyhydramnios, Pericardial effusion, Anasarca, Hypoalbuminem...	OMIM:618183
Erythroderma, Lethal Congenital	Hypoalbuminemia	OMIM:227090
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Nephrotic Syndrome, Type 8	Hypoalbuminemia, Edema, Generalized edema	OMIM:615244
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ed...	ORPHA:103910
Mpi-Cdg	Hepatomegaly, Portal hypertension, Edema, Hypoalbuminemia, Hepatic fibrosis, Decreased liver func...	ORPHA:79319
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Genera...	OMIM:267700
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoalbuminemia, Hepat...	OMIM:618805
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Chylomicron Retention Disease	Decreased LDL cholesterol concentration, Hypoalbuminemia, Steatorrhea, Hypotriglyceridemia, Hypoc...	OMIM:246700
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Edema, Hypoalbuminemia, Ascites, Hypoproteinemia, Generalized edema	OMIM:226300
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Hypertriglyceridemia, Hepatosplenomegaly, Hypoalbuminemia, Hepatic...	OMIM:619013
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po...	ORPHA:64743
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Edema, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Steatorrhea, Hepatic failure	OMIM:602579
Fibronectin Glomerulopathy	Hypoalbuminemia, Pedal edema	ORPHA:84090
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hypercholester...	OMIM:232700
Nephrotic Syndrome, Type 3	Hypoalbuminemia, Edema	OMIM:610725
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Generalized edem...	OMIM:603553
Cryoglobulinemia, Familial Mixed	Anasarca, Elevated circulating creatinine concentration	OMIM:123550
Nephrotic Syndrome, Type 22	Hypoproteinemia, Generalized edema	OMIM:619155
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Pleural effusion, Anasarca, Hypoalbuminemia, Edema	OMIM:254900
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E...	OMIM:616828
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration	ORPHA:206599
Nephrotic Syndrome, Type 6	Hypoalbuminemia, Edema	OMIM:614196
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Hepatomegaly, Nonimmune hydrops fetalis, Portal hypertension, Poly...	ORPHA:367
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly, Hypertriglyceridemia	OMIM:619175
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Edema, Pericardial effusion, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, ...	ORPHA:90362
Nephrotic Syndrome, Type 7	Hypoalbuminemia	OMIM:615008
Alg6-Cdg	Abnormality of the liver, Hypoalbuminemia, Decreased LDL cholesterol concentration, Jaundice	ORPHA:79320
Congenital Analbuminemia	Edema, Facial edema, Hyperlipidemia, Pedal edema, Increased alpha-globulin, Hypoalbuminemia, Hype...	ORPHA:86816
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Congenital Lethal Erythroderma	Hypoalbuminemia	ORPHA:1954
Castleman Disease	Jaundice, Anasarca, Abdominal mass, Elevated circulating C-reactive protein concentration	ORPHA:160
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Edema, Elevated circulating creatinine concentration, Cholestasis, Hypoalbuminemia,...	OMIM:608104
Citrullinemia Type Ii	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp...	ORPHA:247585
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration...	OMIM:251880
Immunodeficiency 87 And Autoimmunity	Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration...	OMIM:619573
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates	Elevated circulating creatine kinase concentration	ORPHA:88635
Liver Failure, Infantile, Transient	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato...	OMIM:613070
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Edema, Periorbital edema, Peritonitis, Hypoalbuminemia, Hypercholesterolemi...	ORPHA:567548
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration...	ORPHA:158061
Myopathy, Distal, With Anterior Tibial Onset	Elevated circulating creatine kinase concentration	OMIM:606768
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Lymphedema, Conjugated hyperbilirubinemia, Splenomeg...	OMIM:214900
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	OMIM:610717
Congenital Disorder Of Glycosylation, Type Iid	Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina...	OMIM:607091
Genetic Steroid-Resistant Nephrotic Syndrome	Periorbital edema, Peritonitis, Hypoalbuminemia, Edema	ORPHA:656
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Portal hypertension, Cholestasis, Anasarca, Hypoalbuminemia, Hypoc...	OMIM:613658
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:620010
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis...	OMIM:614480
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Abnormal circu...	ORPHA:88618
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Fulminant hepa...	OMIM:308240
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Hypoalbuminemia, Splenomegaly	ORPHA:507
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Elevat...	OMIM:613313
Eosinophilic Gastroenteritis	Edema, Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Steatorrhea, Ascites	ORPHA:2070
Immunodeficiency 32B	Splenomegaly, Hepatomegaly, Hypoalbuminemia	OMIM:226990
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu...	OMIM:242150
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Autoinflammation With Infantile Enterocolitis	Splenomegaly, Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating...	OMIM:616050
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbilirubinemia, Int...	OMIM:617093
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Edema	OMIM:256300
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Wolcott-Rallison Syndrome	Hyponatremia, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Hyper...	ORPHA:1667
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Immunodeficiency 27A	Splenomegaly, Hypoalbuminemia, Hepatosplenomegaly	OMIM:209950
Alg1-Cdg	Hypoalbuminemia, Decreased liver function	ORPHA:79327
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr...	OMIM:603471
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Edema, Splenomegaly, Increased circulating ferritin concentra...	OMIM:603552
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Elevated hepatic transaminase, Polyhydramnios, Conjugated hyperbilirubinemia, M...	OMIM:617156
Myopathy, Autophagic Vacuolar, Infantile-Onset	Elevated circulating creatine kinase concentration	OMIM:609500
Cardiomyopathy, Dilated, 1I	Elevated circulating creatine kinase concentration, Cardiomegaly	OMIM:604765
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:64753
Cardiomyopathy, Dilated, 3B	Increased circulating creatine kinase MB isoform	OMIM:302045
Congenital Enterovirus Infection	Fetal ascites, Polyhydramnios, Pericardial effusion, Hepatitis, Cholestasis, Hyperammonemia, Hydr...	ORPHA:292
Pediatric Hepatocellular Carcinoma	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat...	ORPHA:33402
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:232400
Mitochondrial Myopathy, Infantile, Transient	Increased serum pyruvate, Hepatomegaly, Elevated circulating creatine kinase concentration	OMIM:500009
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Nonimmune hydrops fetalis, Hypoalbuminemia, Decreased liver function, Ascites, Oligohydramnios	OMIM:617021
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans	Elevated circulating creatine kinase concentration	OMIM:160570
Galloway-Mowat Syndrome 6	Hypoalbuminemia	OMIM:618347
Hepatic Veno-Occlusive Disease	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Ascites, Increased total bilirubin	ORPHA:890
Primary Biliary Cholangitis	Portal hypertension, Conjugated hyperbilirubinemia, Jaundice, Hepatic failure, Biliary cirrhosis,...	ORPHA:186
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619662
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin...	ORPHA:540
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ...	OMIM:616278
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Hepatomegaly, Abnormality of the liver, Mildly elevated creatine kinase, Decreased circulating ca...	ORPHA:254864
Immunodeficiency 43	Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia	OMIM:241600
Sulfide:Quinone Oxidoreductase Deficiency	Elevated circulating creatine kinase concentration	OMIM:619221
Galactosemia Iii	Splenomegaly, Hepatomegaly, Jaundice, Hypergalactosemia	OMIM:230350
Muscular Dystrophy, Progressive Pectorodorsal	Elevated circulating creatine kinase concentration	OMIM:310095
Ménétrier Disease	Hypoproteinemia, Peripheral edema, Hypoalbuminemia	ORPHA:2494
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12	Elevated circulating creatine kinase concentration	OMIM:616094
Galactose Mutarotase Deficiency	Hepatomegaly, Hypergalactosemia, Cholestasis, Decreased liver function	ORPHA:570422
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4	Elevated circulating creatine kinase concentration	OMIM:613152
Hyperbilirubinemia, Shunt, Primary	Splenomegaly, Hepatomegaly, Jaundice, Hyperbilirubinemia	OMIM:237800
Nphp3-Related Meckel-Like Syndrome	Polyhydramnios, Abnormality of the pancreas, Abnormal liver parenchyma morphology, Abnormal bilia...	ORPHA:3032
Myopathy, Centronuclear, 4	Abnormal circulating creatine kinase concentration	OMIM:614807
Distal Myopathy With Anterior Tibial Onset	Abnormal circulating creatine kinase concentration	ORPHA:178400
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa...	ORPHA:75234
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Hypoalbuminemia	OMIM:616730
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato...	OMIM:203700
Refractory Celiac Disease	Elevated hepatic transaminase, Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, H...	ORPHA:398063
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:600649
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Liver abscess, Hypoalbuminemia, Pleural empyema, Pleural effusion	ORPHA:67
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Portal hypertension, Edema, Peri...	OMIM:619487
Avian Influenza	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu...	ORPHA:454836
Reni Syndrome	Hypertriglyceridemia, Hypoalbuminemia, Edema	OMIM:617575
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Lymphedema, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tr...	ORPHA:1414
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, H...	OMIM:306000
Hydrops Fetalis	Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Pleural effusion, As...	ORPHA:1041
Congenital Myopathy 11	Elevated hepatic transaminase, Abnormal circulating creatine kinase concentration, Polyhydramnios	OMIM:619967
Hemochromatosis, Type 2A	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Increased serum iron, C...	OMIM:602390
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema	OMIM:618773
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Increased circulating...	OMIM:616860
Generalized Pustular Psoriasis	Hyponatremia, Elevated hepatic transaminase, Elevated circulating C-reactive protein concentratio...	ORPHA:247353
Chronic Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice	ORPHA:529799
Isolated Polycystic Liver Disease	Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Increased total bilirubin	ORPHA:2924
Hemochromatosis, Type 4	Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Cirr...	OMIM:606069
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Hyperammonemia, Dehydration	ORPHA:28
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Hypoalbuminemia	OMIM:614441
Congenital Disorder Of Glycosylation, Type Iik	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614727
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra...	ORPHA:139507
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po...	OMIM:602347
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:255120
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatomegaly, Nonimmune hydrops fetalis, Edema, Pericardial effusi...	OMIM:212065
Bile Acid Conjugation Defect 1	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619232
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Edema, Pedal edema, Hyp...	OMIM:277900
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hypertriglyceridemia	OMIM:615924
Idiopathic Copper-Associated Cirrhosis	Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre...	ORPHA:209919
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hyperlipidemia, Portal fibrosis, Hepatic fibrosis, C...	ORPHA:369
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Hypoalbuminemia, Macrovesicular hepatic steatosis, Decreased liver...	OMIM:618329
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Increased C-peptide level	OMIM:615238
Saccharopinuria	Hypercystinemia, Hyperammonemia, Abnormality of circulating enzyme level, Elevated plasma citrull...	ORPHA:3124
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia	ORPHA:172
Lujo Hemorrhagic Fever	Elevated hepatic transaminase, Elevated circulating C-reactive protein concentration, Periorbital...	ORPHA:319213
Distal Myopathy, Tateyama Type	Hypercholesterolemia, Abnormal circulating creatine kinase concentration	ORPHA:488650
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:300635
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,...	OMIM:607765
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int...	OMIM:243300
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pericardial effusion, Anasarca, Peripheral edema, Pleural effusion, Ascites, Enlarg...	OMIM:261740
Lymphatic Malformation 6	Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenomegaly, Polyhydr...	OMIM:616843
Cog7-Cdg	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:79333
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste...	OMIM:612526
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Hepatomegaly, Elevated circulating creatine kinase concentration	OMIM:615704
Primary Sclerosing Cholangitis	Acute hepatic failure, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the gallbladder, Hepatomega...	ORPHA:171
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Nonimmune hydrops fetalis, Splenomegaly, Jaundice, Cholecystitis, Unconjugated hype...	OMIM:266200
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24	Biliary atresia, Elevated circulating creatine kinase concentration	ORPHA:565899
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Joint swelling...	ORPHA:85414
Harderoporphyria	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Prolonged neonatal jaun...	OMIM:618892
Al Amyloidosis	Hepatomegaly, Increased circulating NT-proBNP concentration, Xerostomia, Abnormality of the liver...	ORPHA:85443
Glycogen Storage Disease Ixb	Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Hyperuricemia	OMIM:261750
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Abnormal circulating albumin concentration, Pedal edema	ORPHA:86839
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Hepatomegaly, Splenomegaly, Hypocholesterolemia	OMIM:610539
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increa...	OMIM:607616
Alpha-Heavy Chain Disease	Splenomegaly, Hepatomegaly, Ascites, Hypocalcemia	ORPHA:100025
Abetalipoproteinemia	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Cardiomegal...	ORPHA:14
Trichohepatoenteric Syndrome 1	Hepatomegaly, Polyhydramnios, Abnormality of the pancreas, Splenomegaly, Jaundice, Cholestasis, I...	OMIM:222470
Juvenile Polyposis Syndrome	Neoplasm of the pancreas, Edema, Anasarca, Extrahepatic portal hypertension, Hepatic arteriovenou...	ORPHA:2929
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Hy...	OMIM:235555
Propionic Acidemia	Hepatomegaly, Hyperammonemia	ORPHA:35
Mogs-Cdg	Hepatomegaly, Pulmonary edema, Edema, Cardiomegaly, Polyhydramnios, Hepatosplenomegaly, Left vent...	ORPHA:79330
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2	Elevated circulating creatine kinase concentration	OMIM:613158
Hemochromatosis, Type 5	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati...	OMIM:615517
Muscular Dystrophy, Cardiac Type	Elevated circulating creatine kinase concentration	OMIM:309930
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Hypercalcemia, Polyhydramnios, Hydrops fetalis, Ascites	ORPHA:2123
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple...	OMIM:615234
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Increased circulating ferritin concent...	OMIM:235200
Congenital Disorder Of Glycosylation, Type Iib	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Generalized edema	OMIM:606056
Axial Osteomalacia	Polycystic liver disease, Elevated circulating creatine kinase concentration	OMIM:109130
Johanson-Blizzard Syndrome	Hepatomegaly, Generalized edema, Elevated circulating aspartate aminotransferase concentration, I...	OMIM:243800
Erythrocyte Lactate Transporter Defect	Elevated circulating creatine kinase concentration	OMIM:245340
Dubin-Johnson Syndrome	Hepatomegaly, Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality, Abnormality of ...	ORPHA:234
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
Dimethylglycine Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration	ORPHA:243343
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Polyhydramnios, Fetal ascites, Splenomegaly, Hydrops fetalis	OMIM:619462
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Splenomegaly, Hypoalbuminemia, Macrovesicular hepatic steatosis, Enlarged kidney	OMIM:617303
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:212140
Bacterial Toxic-Shock Syndrome	Elevated circulating creatine kinase concentration, Edema, Peritonitis, Elevated circulating crea...	ORPHA:36234
Dimethylglycine Dehydrogenase Deficiency	Elevated circulating N,N-dimethylglycine concentration, Elevated circulating creatine kinase conc...	OMIM:605850
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Ascites, Hypoalbuminemia	OMIM:610965
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Nonimmune hydrops fetalis, Elevated circulating creatine ki...	OMIM:618838
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Cholelithiasis	OMIM:605479
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1	Generalized edema, Oligohydramnios	OMIM:249210
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Decreased plasma fre...	OMIM:619048
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hepat...	OMIM:617872
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Splenomegaly, Intermittent...	OMIM:601847
Cirrhotic Cardiomyopathy	Hepatomegaly, Increased circulating NT-proBNP concentration, Left ventricular hypertrophy, Cardio...	ORPHA:57777
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif...	OMIM:613027
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Hep...	ORPHA:101330
Dpagt1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Anasarca	ORPHA:86309
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:228305
Mitochondrial Pyruvate Carrier Deficiency	Increased serum pyruvate, Hepatomegaly	OMIM:614741
B4Galt1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:79332
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemi...	OMIM:278000
Dihydrolipoamide Dehydrogenase Deficiency	Increased serum pyruvate, Hepatomegaly, Decreased liver function, Elevated hepatic transaminase	OMIM:246900
Glutaric Acidemia Type 3	Elevated circulating glutaric acid concentration, Abnormality of circulating enzyme level	ORPHA:35706
Hyperinsulinism Due To Ucp2 Deficiency	Decreased circulating free fatty acid level, Diffuse pancreatic islet hyperplasia, Hepatomegaly, ...	ORPHA:276556
Fetal Akinesia Deformation Sequence 3	Generalized edema	OMIM:618389
Myoglobinuria, Autosomal Dominant	Elevated circulating creatine kinase concentration	OMIM:160010
Ovarian Hyperstimulation Syndrome	Generalized edema, Enlarged polycystic ovaries, Peripheral edema, Pleural effusion, Ascites, Pulm...	ORPHA:64739
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hydrops fetalis, Ascites	OMIM:269920
Galactosemia I	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:230400
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Decreased circulating free fatty acid level, Diffuse pancreatic islet hyperplasia, ...	ORPHA:276575
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp...	ORPHA:53035
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:619055
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, H...	OMIM:201475
Eisenmenger Syndrome	Hepatomegaly, Elevated circulating C-reactive protein concentration, Pedal edema, Abnormality of ...	ORPHA:97214
Biliary, Renal, Neurologic, And Skeletal Syndrome	Edema, Polyhydramnios, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepatic fibrosis, Intrahep...	OMIM:619534
Facioscapulohumeral Dystrophy	Palpebral edema, Elevated circulating creatine kinase concentration	ORPHA:269
Structural Heart Defects And Renal Anomalies Syndrome	Elevated circulating creatinine concentration, Generalized edema	OMIM:617478
Pyruvate Carboxylase Deficiency	Increased serum pyruvate, Hyperalaninemia, Hepatomegaly	OMIM:266150
Alg12-Cdg	Hyponatremia, Elevated hepatic transaminase, Edema, Polyhydramnios, Hypoalbuminemia, Hypocholeste...	ORPHA:79324
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypernatremia, Hypoalbuminemia	OMIM:615508
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Nonimmune hydrops fetalis, Lymphedema, Periorbital edema, Pericardial effusion, Hypoalbuminemia, ...	OMIM:235510
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:42
Galloway-Mowat Syndrome 3	Hypoalbuminemia, Edema, Oligohydramnios	OMIM:617729
Juvenile Polyposis Syndrome	Hypokalemia, Hypoalbuminemia	OMIM:174900
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating creatine kinase concentration, ...	ORPHA:369840
Lymphoproliferative Syndrome 1	Hepatomegaly, Elevated circulating C-reactive protein concentration, Pericardial effusion, Spleno...	OMIM:613011
Mcleod Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:300842
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia	OMIM:608600
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Hyperprolinemia, Hyperalaninemia	OMIM:619064
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl...	OMIM:211600
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundice, Hepatitis, Ch...	OMIM:194380
Lipe-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Elevated circulating creatine kinase conce...	ORPHA:435660
Pyruvate Dehydrogenase E3 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating branched chain amino acid conce...	ORPHA:2394
Peroxisome Biogenesis Disorder 3A (Zellweger)	Hepatomegaly, Increased circulating very long-chain fatty acid concentration	OMIM:614859
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hyper...	OMIM:618641
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, ...	ORPHA:567983
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate...	OMIM:214950
Combined Oxidative Phosphorylation Deficiency 40	Decreased circulating cortisol level, Nonimmune hydrops fetalis, Elevated circulating creatine ki...	OMIM:618835
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Elevated hepatic transaminase, Splenomegaly, Abnormal blood ion concentration, Hepatitis, Hypoalb...	ORPHA:37042
Combined Oxidative Phosphorylation Deficiency 42	Decreased circulating cortisol level, Nonimmune hydrops fetalis, Elevated circulating creatine ki...	OMIM:618839
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Splenomegaly, Hyperammonemia, Dehydration, Pancreatitis	ORPHA:79312
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating C-reacti...	OMIM:619644
Heme Oxygenase 1 Deficiency	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614034
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,...	ORPHA:79303
Combined Oxidative Phosphorylation Deficiency 33	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:617713
Pmm2-Cdg	Elevated hepatic transaminase, Lymphedema, Pericardial effusion, Reduced thyroxin-binding globuli...	ORPHA:79318
Leber Congenital Amaurosis 1	Hepatomegaly, Hyperthreoninemia	OMIM:204000
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Diffuse pancreatic islet hyperplasia, Increased C-peptide level	ORPHA:276580
Congenital Disorder Of Glycosylation, Type Iir	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu...	OMIM:301045
Hyperinsulinism Due To Hnf1A Deficiency	Decreased circulating free fatty acid level, Hepatomegaly, Increased C-peptide level	ORPHA:324575
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating C-reactive protein concentratio...	ORPHA:829
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Jaundice, Elevated circulatin...	OMIM:613095
Hypermanganesemia With Dystonia 1	Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa...	OMIM:613280
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Edema, Hyperkalemia, Pleural empyema, Hypocalcemia, Pancreatitis, Generalized edema	ORPHA:544482
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Decreased serum iron, Decreased serum zinc, Hypoalbuminemia, Decreased circulating carnitine conc...	ORPHA:89842
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Transient hyperlipidemia	ORPHA:156
Galactokinase Deficiency	Hepatomegaly, Hepatosplenomegaly, Increased level of galactitol in plasma, Hypergalactosemia, Hyp...	ORPHA:79237
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Abnormal circulating fatty-acid concentration, Enlarged polycystic ovaries, Bil...	ORPHA:2298
Spinal muscular atrophy, type I, with congenital bone fractures	Generalized edema	OMIM:271225
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C...	ORPHA:79301
Fish-Eye Disease	Splenomegaly, Decreased HDL cholesterol concentration, Hepatomegaly	ORPHA:79292
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami...	OMIM:615558
Dengue Fever	Hepatomegaly, Ascites, Hypoproteinemia	ORPHA:99828
Peroxisome Biogenesis Disorder 3B	Hepatomegaly, Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia	OMIM:266510
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly	ORPHA:882
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Pancreatitis, Hyperammonemia, Dehydration	ORPHA:27
Hyperzincemia With Functional Zinc Depletion	Increased serum zinc, Hepatomegaly	OMIM:601979
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Conjugated hyperbilirubinemia, Hepatic melan...	OMIM:208085
Peroxisome Biogenesis Disorder 7A (Zellweger)	Hepatomegaly, Jaundice, Elevated circulating tetracosanoic acid concentration, Elevated circulati...	OMIM:614872
Myopathy With Extrapyramidal Signs	Extremely elevated creatine kinase, Hepatomegaly, Elevated hepatic transaminase, Elevated circula...	OMIM:615673
Griscelli Syndrome Type 2	Splenomegaly, Hepatomegaly, Hyperlipidemia, Jaundice	ORPHA:79477
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Hepatomegaly, Hydrops fetalis, Polyhydramnios	ORPHA:2204
Glycogen Storage Disease Xii	Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Jaundice, Elevate...	OMIM:611881
Citrullinemia, Classic	Hepatomegaly, Hyperglutaminemia, Cerebral edema, Hyperammonemia, Episodic ammonia intoxication, C...	OMIM:215700
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:212138
Hellp Syndrome	Elevated hepatic transaminase, Pleural effusion, Pulmonary edema, Generalized edema	ORPHA:244242
Autoimmune Lymphoproliferative Syndrome, Type Iii	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615559
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614582
Congenital Generalized Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Cirrhosis, Hypercholesterolemia, Hepatic steatosis, Increased...	ORPHA:528
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Galloway-Mowat Syndrome 1	Hypoalbuminemia, Oligohydramnios	OMIM:251300
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	ORPHA:264580
Combined Oxidative Phosphorylation Deficiency 53	Hepatomegaly, Elevated circulating C-reactive protein concentration	OMIM:619423
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Pancreatitis, Hyperammonemia	ORPHA:289916
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypoalbuminemia, Enlarged kidney, Hepatosplenomegaly	ORPHA:505248
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Hepatocellular carcinoma, Cardiomegaly, In...	ORPHA:465508
Amyloidosis, Familial Visceral	Splenomegaly, Hepatomegaly, Cholestasis, Edema	OMIM:105200
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	ORPHA:79240
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis	ORPHA:79085
Beta-Thalassemia	Hepatomegaly, Splenomegaly, Hepatitis, Abnormality of iron homeostasis, Cholelithiasis	ORPHA:848
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Ele...	ORPHA:100085
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:329178
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:614576
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Griscelli Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Pedal edema, Ascites, Abnormal circulating lipid...	ORPHA:381
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Low plasma citrulline, Elevated circulating alanine aminotransferase concentration,...	OMIM:261680
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Abnorm...	ORPHA:98907
Glycogen Storage Disease Ii	Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase...	OMIM:232300
Marburg Hemorrhagic Fever	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Hyperamylasemi...	ORPHA:99826
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatomegaly, Hyperammonemia, Hyperornithinemia, Decreased liver function, Acute hepatitis	OMIM:238970
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating acylcarnitine concentration, Hy...	ORPHA:159
Cardiomyopathy, Familial Restrictive, 6	Hepatomegaly, Portal vein hypoplasia, Hydrops fetalis, Ascites	OMIM:619433
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Atretic gallbladder, ...	ORPHA:30391
Pancreatic Lipase Deficiency	Steatorrhea, Hypocholesterolemia	OMIM:614338
Combined Oxidative Phosphorylation Deficiency 4	Hepatomegaly, Hyperammonemia	OMIM:610678
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:26793
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Pancreatitis	ORPHA:435651
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hepatomegaly, Hyperammonemia, Dehydration, Hyperglycinemia, Pancreatitis	OMIM:251000
Cinca Syndrome	Splenomegaly, Hepatomegaly, Elevated circulating C-reactive protein concentration, Edema	ORPHA:1451
Trichohepatoenteric Syndrome 2	Hepatomegaly, Cirrhosis, Decreased serum iron, Chronic hepatitis	OMIM:614602
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Polyhydramnios, Hypocholesterolemia	OMIM:618810
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Hepatomegaly, Elevated circulating creatine kinase concentration	OMIM:619424
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Splenomegaly, Hepatomegaly, Joint swelling, Elevated circulating C-reactive protein concentration	OMIM:612852
Tropical Endomyocardial Fibrosis	Hepatomegaly, Cardiomegaly, Splenomegaly, Pedal edema, Peripheral edema, Hypoalbuminemia, Ascites	ORPHA:75565
Peroxisome Biogenesis Disorder 13A (Zellweger)	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:614887
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta...	ORPHA:309854
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:157
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating alanine a...	OMIM:615381
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hypoalbuminemia	ORPHA:79396
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hepatomegaly, Hyperammonemia, Oligohydramnios	ORPHA:1194
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,...	OMIM:613404
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Splenomegaly, Jaundice, Hyperbilirubinemia, Prolonged neonatal jaundice	OMIM:185000
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:608836
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Abnormal circulating creatine kinase concentration, Abnormal circulating copper concentration	ORPHA:521411
Autoinflammation With Arthritis And Dyskeratosis	Splenomegaly, Hepatomegaly, Elevated circulating C-reactive protein concentration	OMIM:617388
Dehydrated Hereditary Stomatocytosis 2	Splenomegaly, Hepatomegaly, Jaundice, Hyperbilirubinemia	OMIM:616689
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Polyhydramnios, Lymphedema, Splenomegaly, Pancreatic lymphangiectasis, Ascites, Hyp...	OMIM:235255
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614924
Immunodeficiency 82 With Systemic Inflammation	Elevated circulating C-reactive protein concentration, Splenomegaly, Hepatitis, Joint swelling, H...	OMIM:619381
Chylomicron Retention Disease	Elevated hepatic transaminase, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia, Increased ...	ORPHA:71
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:614921
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Smith-Lemli-Opitz Syndrome	Hepatomegaly, Splenomegaly, Cholestatic liver disease, Hypoalbuminemia, Elevated circulating 7-de...	OMIM:270400
Tyrosinemia, Type I	Acute hepatic failure, Hypertyrosinemia, Hepatomegaly, Elevated hepatic transaminase, Elevated ci...	OMIM:276700
Peroxisome Biogenesis Disorder 4A (Zellweger)	Hepatomegaly, Increased circulating very long-chain fatty acid concentration	OMIM:614862
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Splenomegaly, Hydrops fetalis, Hepatosplenomegaly, Unconjugated hyperbilirubinemia,...	OMIM:613673
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat...	ORPHA:228308
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Highly elevated creatine kinase, Elevated circulating creatine kinase concentration, Hepatomegaly	OMIM:251900
Argininemia	Hepatomegaly, Micronodular cirrhosis, Cholestasis, Hyperammonemia, Portal fibrosis, Hyperargininemia	OMIM:207800
Juvenile Polyposis Of Infancy	Hypoalbuminemia	ORPHA:79076
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Splenomegaly, Hydrops fetalis, Chylopericardium, Pleural effusion, Ascites	ORPHA:2414
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:615895
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Cirrhosis, Hepatic steatosis, Pa...	ORPHA:79083
Argininosuccinic Aciduria	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperglutaminemia, C...	OMIM:207900
Caroli Syndrome	Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port...	ORPHA:480520
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Omenn Syndrome	Splenomegaly, Hepatomegaly, Hypoproteinemia	OMIM:603554
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ...	ORPHA:412
Propionic Acidemia	Hepatomegaly, Dehydration, Hyperammonemia, Hyperglycinemia, Pancreatitis	OMIM:606054
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Beta-Thalassemia Intermedia	Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Hepatosplenomegaly, Abnormality o...	ORPHA:231222
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor...	ORPHA:400
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Hepatomegaly, Hyperammonemia, Dehydration, Hyperglycinemia	OMIM:251110
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Fanconi-Bickel Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration...	ORPHA:2088
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615486
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatic failure, Hepatitis	ORPHA:60
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Splenomegaly, Hydrops fetalis, Hyperbilirubinemia, Prolonged neonatal jaundice	OMIM:224120
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Polyhydramnios, Splenomegaly, Pancreatic lymphangiectasis, Hepatosplenomegaly, Asci...	ORPHA:1655
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin...	ORPHA:158048
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Hyperuricemia, Hyperammonemia	OMIM:246450
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated circulating creatine ki...	ORPHA:26791
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circulating copper conce...	OMIM:300972
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Polyhydramnios, Splenomegaly, Hydrops fetalis, Oligohydramnios	ORPHA:163596
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic steatosis, Pancreatitis	ORPHA:2348
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Pancreatic cysts, S...	OMIM:610199
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat...	ORPHA:308552
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Hypouricemia, Hypophosphatemia	OMIM:616026
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia, P...	ORPHA:565612
Familial Mediterranean Fever	Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Peritonitis, E...	OMIM:249100
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hepatomegaly, Polyhydramnios, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalemia	OMIM:608885
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	OMIM:613327
Polymyositis	Hepatomegaly, Elevated circulating creatine kinase concentration	ORPHA:732
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating fatty-acid concentration, Pancr...	ORPHA:263455
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Cirrhosis, Abnormal circulating lipid con...	ORPHA:79086
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hepatoce...	OMIM:232200
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Periorbital edema, Splenomegaly	OMIM:617591
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Chronic pancreatitis, Abnormal...	ORPHA:98908
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome...	ORPHA:131
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hyperlipidemia, X...	OMIM:232220
Wolman Disease	Hepatomegaly, Splenomegaly, Ascites, Steatorrhea, Hepatic failure	ORPHA:75233
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Hepatomegaly, Hyperammonemia, Dehydration, Hyperglycinemia	OMIM:251100
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Hepatomegaly, Abnormal circulating serine concentration,...	ORPHA:470
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Hepatic fibrosis, Cirrhosis, Hepatomegaly	OMIM:601539
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia	OMIM:614748
Sepsis In Premature Infants	Hepatomegaly, Elevated circulating C-reactive protein concentration, Edema, Splenomegaly, Jaundic...	ORPHA:90051
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hyperuricemia, Hyperalaninemia, Hepatic steatosis, N...	ORPHA:348
Reynolds Syndrome	Calcinosis, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Biliary cirrhosi...	OMIM:613471
Beta-Ketothiolase Deficiency	Hepatomegaly, Edema, Dehydration, Hyperammonemia, Hyperuricemia	ORPHA:134
Fanconi-Bickel Syndrome	Hepatomegaly, Hypouricemia, Elevated circulating aspartate aminotransferase concentration, Intrah...	OMIM:227810
Hereditary Spherocytosis	Hepatomegaly, Splenomegaly, Jaundice, Hyperbilirubinemia, Cholelithiasis	ORPHA:822
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho...	ORPHA:456312
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,...	OMIM:208540
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ...	OMIM:615415
Primary Hyperoxaluria Type 1	Calcinosis, Hyperoxaluria, Abnormality of circulating enzyme level	ORPHA:93598
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Hypophosphatemia	OMIM:239200
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Abnormal abdomen...	ORPHA:97278
Hereditary Fructose Intolerance	Hepatomegaly, Jaundice, Hypermagnesemia, Hyperuricemia, Hypophosphatemia, Chronic hepatic failure	ORPHA:469
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Splenomegaly, Hepatomegaly, Decreased serum zinc	OMIM:201100
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Elevated circulating creatine kin...	OMIM:615356
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hydrops fetalis, Macronodular c...	OMIM:557000
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatomegaly, Hepatic cysts	OMIM:617004
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology	ORPHA:1332
Vipoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Abnormal abdomen...	ORPHA:97282
Somatostatinoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Abnormal abdomen...	ORPHA:97283
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Microvesicular hepatic steatosis, Splenomeg...	OMIM:619418
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B...	OMIM:607626
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Hypocalcemia, Elevated hepatic iron concentration, Pancreatic ...	OMIM:619991
Diaphanospondylodysostosis	Increased nuchal translucency, Abnormal liver lobulation, Enlarged kidney, Oligohydramnios	OMIM:608022
Biotinidase Deficiency	Splenomegaly, Hepatomegaly, Hyperammonemia	OMIM:253260
Neu-Laxova Syndrome 1	Polyhydramnios, Generalized edema	OMIM:256520
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia	OMIM:610505
Meckel Syndrome, Type 3	Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate	OMIM:607361
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hepatitis, Hyperammonemia, Hyperornithinemia, Decrea...	ORPHA:415
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ...	OMIM:151660
Transketolase Deficiency	Hepatomegaly, Elevated circulating ribitol concentration	ORPHA:488618
Lysinuric Protein Intolerance	Hepatomegaly, Hypolysinemia, Increased circulating ferritin concentration, Splenomegaly, Intraalv...	OMIM:222700
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Dehydration, Periportal fibros...	OMIM:263200
Pearson Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypomagnesemia, Splenomegaly, H...	ORPHA:699
Glycogen Storage Disease Ic	Hepatomegaly, Chronic pancreatitis, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hepatocellular ca...	OMIM:232240
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Hypersplenism, Splen...	ORPHA:77293
Grfoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Abnormal abdomen...	ORPHA:97261
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Bicarbonaturia, Hyperuricemia, Hyperbiliru...	OMIM:229600
Pulmonary Alveolar Microlithiasis	Hepatomegaly, Abnormal circulating calcium concentration, Peripheral edema, Increased circulating...	ORPHA:60025
Mosaic Trisomy 9	Polyhydramnios, Asplenia, Hydrops fetalis, Abnormal liver lobulation, Oligohydramnios	ORPHA:99776
Hardikar Syndrome	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic bile duct cysts, Cholangitis, Portal hy...	OMIM:301068
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h...	OMIM:269700
Glucagonoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Abnormal abdomen...	ORPHA:97280
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Splenomega...	OMIM:608594
Klatskin Tumor	Hepatomegaly, Jaundice, Cholangiocarcinoma, Extrahepatic cholestasis	ORPHA:99978
Sarcoidosis	Hepatomegaly, Hypercalcemia, Portal hypertension, Abnormal liver parenchyma morphology, Joint swe...	ORPHA:797
Porphyria, Congenital Erythropoietic	Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating uroporphyrin concentration, Cholelithi...	OMIM:263700
Leptospirosis	Hepatomegaly, Jaundice, Hepatitis, Hyperproteinemia, Elevated serum transaminases during infectio...	ORPHA:509
Cystic Fibrosis	Hepatomegaly, Biliary cirrhosis, Dehydration, Hepatosplenomegaly, Cirrhosis, Steatorrhea, Pancrea...	OMIM:219700

Histopathology

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

There is no histopathology data for Bpnt1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Bpnt1.

No publications found that use IMPC mice or data for Bpnt1.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Bpnt1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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