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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

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 Similarity of
phenotypes
Matching phenotypes Source
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Charcot-Marie-Tooth Disease, Axonal, Type 2Y
Elevated circulating creatine kinase concentration OMIM:616687
Proximal Myopathy With Focal Depletion Of Mitochondria
Elevated circulating creatine kinase concentration OMIM:600706
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Ascites, Cirrhosis, Cholestasis, Hepatic failure, Hypoalbuminem... OMIM:617156
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Myopathy, Vacuolar, With Casq1 Aggregates
Elevated circulating creatine kinase concentration OMIM:616231
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia OMIM:606664
Myopathy, Distal, Tateyama Type
Elevated circulating creatine kinase concentration OMIM:614321
Glycogen Storage Disease Xiii
Elevated circulating creatine kinase concentration OMIM:612932
Nephrotic Syndrome, Type 2
Edema, Hyperlipidemia, Hypoalbuminemia OMIM:600995
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21
Elevated circulating creatine kinase concentration OMIM:617232
Pancreatic insufficiency, combined exocrine
Hypoproteinemia, Exocrine pancreatic insufficiency, Anasarca OMIM:260450
Focal Segmental Glomerulosclerosis 1
Edema, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Nephrotic Syndrome, Type 9
Edema, Hypoalbuminemia OMIM:615573
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Edema, H... OMIM:616000
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 8
Elevated circulating creatine kinase concentration OMIM:618135
Myopathy, Distal, Infantile-Onset
Elevated circulating creatine kinase concentration OMIM:160300
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Pericardial effusion, Ascites, Anasarca, Polyhydramnios, Hypocalcemia, Hypomagnesem... OMIM:618183
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Focal Segmental Glomerulosclerosis 6
Edema, Hypoalbuminemia OMIM:614131
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Ascites, Hyperlipidemia, Edema, Anasarca, Facial edema, Palpebral edema, Hypoalbuminemia, Pedal e... ORPHA:567546
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Reduced circulating transferrin concentration, Hypocholesterolemia, E... ORPHA:90363
Chylomicron Retention Disease
Hypocholesterolemia, Hypotriglyceridemia, Steatorrhea, Hypoalbuminemia, Decreased LDL cholesterol... OMIM:246700
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia, Generalized edema OMIM:207731
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Hypoproteinemia, Ascites, Edema, Hypoalbuminemia, Generalized edema OMIM:226300
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:88643
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Edema, Abnormal circulating protein concentrat... ORPHA:103910
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Hepatic steatosis, Elevated circulating alanine aminotransferase conc... OMIM:618805
Mpi-Cdg
Hepatomegaly, Hepatic fibrosis, Edema, Decreased liver function, Hypoalbuminemia, Portal hyperten... ORPHA:79319
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Hyponatremia, Decreased HDL cholesterol concentration, Hypoproteinemia, Increased L... OMIM:267700
Nephrotic Syndrome, Type 6
Edema, Hypoalbuminemia OMIM:614196
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hepatic failure, Hypoalbuminemia OMIM:602579
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Glycogen Storage Disease Vi
Hepatomegaly, Hyperlipidemia, Increased hepatic glycogen content, Hypercholesterolemia, Hypertrig... OMIM:232700
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatic steatosis, Hepatosplenomegaly, Oligohydramnios, Hypertriglyceridemia, Hypoalbuminemia, El... OMIM:619013
Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, With Or Without Cerebellar Ataxia
Elevated circulating creatine kinase concentration OMIM:310490
Hepatocellular Carcinoma
Hepatomegaly, Hyponatremia, Hypercalcemia, Hemobilia, Ascites, Hypokalemia, Hepatic necrosis, Ana... ORPHA:88673
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Elevated circulating creatine kinase concentration OMIM:616209
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Nephrotic Syndrome, Type 3
Edema, Hypoalbuminemia OMIM:610725
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hepatocellular necrosis, Ascites, Depletion of mitochondrial DNA in liver, Micronod... OMIM:251880
Fibronectin Glomerulopathy
Pedal edema, Hypoalbuminemia ORPHA:84090
Hepatoportal Sclerosis
Hepatocellular carcinoma, Ascites, Hyperbilirubinemia, Nodular regenerative hyperplasia of liver,... ORPHA:64743
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Hyponatremia, Hypoproteinemia, Edema, Increased total bilirubin, Splenomegaly, Incr... OMIM:603553
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration, Anasarca OMIM:123550
Nephrotic Syndrome, Type 22
Hypoproteinemia, Generalized edema OMIM:619155
Nephrotic Syndrome, Type 8
Edema, Hypoalbuminemia OMIM:615244
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Ascites, Decreased liver function, Oligohydramnios, Cholestasis, Hypoalbuminemia OMIM:608104
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Edema, Hypoalbuminemia OMIM:600351
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Elevated hepatic transaminase, Increased LDL cholesterol concentration, Elevated ci... OMIM:616828
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia, Elevated h... OMIM:614480
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatomegaly, Nonimmune hydrops fetalis, Ascites, Polyhydramnios, Cirrhosis, Decreased liver func... ORPHA:367
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia, Splenomegaly OMIM:619175
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypoproteinemia, Pericardial effusion, Ascites, Edema, Hypocalcemia, Hypomagnese... ORPHA:90362
Alg6-Cdg
Abnormality of the liver, Hypoalbuminemia, Decreased LDL cholesterol concentration, Jaundice ORPHA:79320
Citrullinemia Type Ii
Hepatomegaly, Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hepatoc... ORPHA:247585
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Ascites, Hypokalemia, Anasarca, Hepatic steatosis, Elevated circulating alanine ami... OMIM:619573
Klhl9-Related Early-Onset Distal Myopathy
Abnormal circulating creatine kinase concentration ORPHA:399081
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Retinohepatoendocrinologic Syndrome
Elevated circulating creatine kinase concentration, Degenerative liver disease OMIM:268040
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration OMIM:615895
Macrophage Activation Syndrome
Hepatomegaly, Hepatitis, Splenomegaly, Decreased liver function, Elevated circulating aspartate a... ORPHA:158061
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Edema, Facial edema, Hypercholesterolemia, Oligohydramnios, Hypo... ORPHA:86816
Castleman Disease
Elevated circulating C-reactive protein concentration, Anasarca, Abdominal mass, Jaundice ORPHA:160
Idiopathic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Abnormal circulating lipid concentration, Edema, Hypercholesterolemia, Hypertriglyce... ORPHA:567548
Leigh Syndrome With Nephrotic Syndrome
Oligohydramnios, Cardiomegaly, Generalized edema, Hypoalbuminemia ORPHA:255249
Cholestasis-Lymphedema Syndrome
Lymphedema, Hepatomegaly, Hyperlipidemia, Splenomegaly, Cirrhosis, Neonatal cholestatic liver dis... OMIM:214900
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Hepatic steatosis, Hypertriglyc... OMIM:610717
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Edema, Periorbital edema, Peritonitis ORPHA:656
Nonaka Myopathy
Elevated circulating creatine kinase concentration OMIM:605820
Myopathy, Distal, With Anterior Tibial Onset
Elevated circulating creatine kinase concentration OMIM:606768
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Hypoalbuminemia, Splenomegaly ORPHA:507
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Pancreatitis, Hyp... OMIM:603471
Congenital Disorder Of Glycosylation, Type Iid
Elevated circulating creatine kinase concentration OMIM:607091
S-Adenosylhomocysteine Hydrolase Deficiency
Hyperhomocystinemia, Hepatocellular carcinoma, Elevated circulating creatine kinase concentration... ORPHA:88618
Hemochromatosis, Type 2B
Increased serum iron, Hepatomegaly, Hepatic fibrosis, Elevated transferrin saturation, Splenomega... OMIM:613313
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Eosinophilic Gastroenteritis
Ascites, Edema, Steatorrhea, Hypoalbuminemia, Elevated circulating C-reactive protein concentration ORPHA:2070
Rajab Interstitial Lung Disease With Brain Calcifications 1
Unconjugated hyperbilirubinemia, Ascites, Bile duct proliferation, Anasarca, Hypocalcemia, Cirrho... OMIM:613658
Nephrotic Syndrome, Type 1
Hypoproteinemia, Edema, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Immunodeficiency 27A
Hypoalbuminemia, Hepatosplenomegaly, Splenomegaly OMIM:209950
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating C-reactive pr... OMIM:616050
Lipodystrophy, Familial Partial, Type 5
Abnormal circulating lipid concentration, Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis OMIM:615238
Myopathy, Myofibrillar, 5
Elevated circulating creatine kinase concentration OMIM:609524
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Hyperammonemia, Hepatosplenomegaly, Hyperthreoninemia, Hypermethioninemia, Jau... ORPHA:247598
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Edema, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid... OMIM:603552
Wolcott-Rallison Syndrome
Hepatomegaly, Hyponatremia, Ascites, Hyperbilirubinemia, Hyperammonemia, Abnormality of the liver... ORPHA:1667
Myopathy, Autophagic Vacuolar, Infantile-Onset
Elevated circulating creatine kinase concentration OMIM:609500
Hyperlipoproteinemia, Type Id
Hepatomegaly, Hyperlipoproteinemia, Splenomegaly OMIM:615947
Distal Myopathy With Anterior Tibial Onset
Abnormal circulating creatine kinase concentration ORPHA:178400
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Alg1-Cdg
Decreased liver function, Hypoalbuminemia ORPHA:79327
Congenital Enterovirus Infection
Fetal ascites, Pericardial effusion, Hepatitis, Polyhydramnios, Hyperammonemia, Cholestasis, Hepa... ORPHA:292
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Elevated circulating creatine kinase concentration OMIM:300717
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Elevated circulating creatine kinase concentration OMIM:160570
Primary Biliary Cholangitis
Abnormality of the intrahepatic bile duct, Hepatic fibrosis, Hepatocellular carcinoma, Ascites, A... ORPHA:186
Glycogen Storage Disease Iii
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Elevated circulating creatine kinase concentratio... OMIM:232400
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypercholesterole... ORPHA:64753
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia OMIM:208920
Nephrotic Syndrome, Type 14
Edema, Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Hepatic Veno-Occlusive Disease
Hepatomegaly, Ascites, Increased total bilirubin, Elevated hepatic transaminase, Jaundice ORPHA:890
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Splenomegaly, Decreased liver function, Cholestatic liver disease, Increased circul... ORPHA:540
Pediatric Hepatocellular Carcinoma
Elevated alpha-fetoprotein, Hepatomegaly, Hepatic necrosis, Hepatic fibrosis ORPHA:33402
Mitochondrial Myopathy, Infantile, Transient
Elevated circulating creatine kinase concentration, Hepatomegaly, Decreased plasma carnitine, Inc... OMIM:500009
Muscular Dystrophy, Progressive Pectorodorsal
Elevated circulating creatine kinase concentration OMIM:310095
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Increased total iron binding capacity, Hyperbili... OMIM:616278
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Increased circulating ferritin concentration, Splenomegaly OMIM:615234
Sulfide:Quinone Oxidoreductase Deficiency
Elevated circulating creatine kinase concentration OMIM:619221
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Cirrhosis, Elevated circulating aspartat... OMIM:619662
Niemann-Pick Disease, Type B
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, S... OMIM:607616
Galactosemia Iii
Jaundice, Hepatomegaly, Hypergalactosemia, Splenomegaly OMIM:230350
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Nonimmune hydrops fetalis, Hepatic fibrosis, Pericardial effusion, Hypocholesterole... OMIM:212065
Amoebiasis Due To Entamoeba Histolytica
Pleural empyema, Hypoalbuminemia, Elevated hepatic transaminase, Pleural effusion, Liver abscess ORPHA:67
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Elevated circulating creatine kinase concentration, Hepatomegaly OMIM:615704
Ménétrier Disease
Hypoproteinemia, Peripheral edema, Hypoalbuminemia ORPHA:2494
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:237800
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Hyperbilirubinemia, Hydrops fetalis, Splenomegaly OMIM:613673
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Galactose Mutarotase Deficiency
Decreased liver function, Hepatomegaly, Hypergalactosemia, Cholestasis ORPHA:570422
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ... OMIM:617713
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Hepatic steatosis, Elevated circulating creatine kinase... OMIM:615980
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Hepatic fibrosis, Ascites, Pericardial effusion, Edema, Left ventricular hypertroph... OMIM:619487
Refractory Celiac Disease
Hypoproteinemia, Hypophosphatemia, Hypocalcemia, Hypomagnesemia, Abnormal spleen physiology, Hypo... ORPHA:398063
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatic failur... ORPHA:75234
Miyoshi Muscular Dystrophy 3
Elevated circulating creatine kinase concentration OMIM:613319
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Abnormality of the liver, Hepatomegaly, Decreased plasma carnitine, Mildly elevated creatine kinase ORPHA:254864
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... OMIM:616516
Chronic Bilirubin Encephalopathy
Prolonged neonatal jaundice, Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Prolonged neonatal jaundice, Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529799
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, H... OMIM:255120
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Decreased c... OMIM:207750
Cholestasis-Lymphedema Syndrome
Lymphedema, Hepatomegaly, Acholic stools, Biliary tract abnormality, Hyperlipidemia, Splenomegaly... ORPHA:1414
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, M... OMIM:600649
Biliary Atresia, Extrahepatic
Hepatomegaly, Unconjugated hyperbilirubinemia, Portal fibrosis, Acholic stools, Atretic gallbladd... OMIM:210500
Rippling Muscle Disease 2
Elevated circulating creatine kinase concentration OMIM:606072
Hemochromatosis, Type 4
Hepatomegaly, Elevated transferrin saturation, Cirrhosis, Increased circulating ferritin concentr... OMIM:606069
Hemochromatosis, Type 2A
Increased serum iron, Hepatomegaly, Splenomegaly, Cirrhosis, Increased circulating ferritin conce... OMIM:602390
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Pericardial effusion, Polyhydramnios, Pleural effusion, Generalized edema OMIM:618773
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Hyperbilirubinemia, Macrovesicular hepatic steato... OMIM:613070
Isolated Polycystic Liver Disease
Hepatomegaly, Increased total bilirubin, Polycystic liver disease, Abnormality of the pancreas ORPHA:2924
Avian Influenza
Elevated circulating creatine kinase concentration, Hepatitis, Hypoalbuminemia, Elevated hepatic ... ORPHA:454836
Nphp3-Related Meckel-Like Syndrome
Polyhydramnios, Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Abnormal... ORPHA:3032
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4
Elevated circulating creatine kinase concentration OMIM:613152
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12
Elevated circulating creatine kinase concentration OMIM:616094
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatic steatosis, Abnormal circulating creatine kinase concentrat... ORPHA:369840
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Elevated hepatic iron concentration, Splenomegaly, Cirrhosis, Increased circulating... OMIM:616860
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Elevated circulating creatine kinase concentration OMIM:617072
Hydrops Fetalis
Nonimmune hydrops fetalis, Pericardial effusion, Ascites, Polyhydramnios, Pleural effusion, Gener... ORPHA:1041
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Primary Sclerosing Cholangitis
Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatitis, Splenomegaly, Hepatosplenomegaly, Por... ORPHA:171
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Elevated circulating creatine kinase concentration OMIM:612998
Bile Acid Conjugation Defect 1
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619232
Congenital Disorder Of Glycosylation, Type Iik
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration OMIM:614727
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Increased total bilirubin, Cholestasis, Hepatic failure, Elevated hepatic transamin... OMIM:618528
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... ORPHA:139507
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Hypercholesterolemia, Hepatic steatosis, Hepatosplenomegaly, Hypertri... OMIM:612526
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Dehydration, Hyperammonemia ORPHA:28
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Elevated circulating creatine kinase concentration ORPHA:1878
Cog7-Cdg
Hepatomegaly, Elevated circulating creatine kinase concentration, Hepatosplenomegaly, Elevated he... ORPHA:79333
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Splenomegaly, Cholestasis, Hypocalcemia, Jaundice ORPHA:172
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Increased hepatic glycogen content, Hepatocellul... ORPHA:369
Combined Oxidative Phosphorylation Deficiency 37
Bile duct proliferation, Hyperalaninemia, Macrovesicular hepatic steatosis, Decreased liver funct... OMIM:618329
Hereditary Continuous Muscle Fiber Activity
Elevated circulating creatine kinase concentration ORPHA:972
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hepatitis, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyc... OMIM:300635
Saccharopinuria
Hypercystinemia, Abnormality of circulating enzyme level, Hyperammonemia, Elevated plasma citrull... ORPHA:3124
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Elevated circulating creatine kinase concentration OMIM:608807
Lujo Hemorrhagic Fever
Fulminant hepatitis, Facial edema, Cerebral edema, Elevated hepatic transaminase, Elevated circul... ORPHA:319213
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration OMIM:612937
Harderoporphyria
Hepatomegaly, Neonatal hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concentra... OMIM:618892
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Hypocholesterolemia, Hyperbilirubinemia, Sple... OMIM:607765
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Splenomegaly, Elevated circulating C-reactive protein concentration, Pleural effusi... ORPHA:85414
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Elevated circulating creatine kinase concentration OMIM:613818
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Pancreatitis, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbili... OMIM:243300
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Elevated circulating creatine kinase concentration, Biliary atresia ORPHA:565899
Lymphatic Malformation 6
Nonimmune hydrops fetalis, Ascites, Edema, Chylothorax, Facial edema, Genital edema, Splenomegaly... OMIM:616843
Muscular Dystrophy, Becker Type
Elevated circulating creatine kinase concentration OMIM:300376
Abetalipoproteinemia
Hepatomegaly, Decreased HDL cholesterol concentration, Hepatic fibrosis, Decreased LDL cholestero... ORPHA:14
Al Amyloidosis
Hepatomegaly, Xerostomia, Abnormality of the liver, Increased circulating NT-proBNP concentration... ORPHA:85443
Trichohepatoenteric Syndrome 1
Increased serum iron, Hepatomegaly, Abnormality of iron homeostasis, Hepatic fibrosis, Polyhydram... OMIM:222470
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Pedal edema, Abnormal circulating albumin concentration ORPHA:86839
Myopathy Due To Malate-Aspartate Shuttle Defect
Elevated circulating creatine kinase concentration OMIM:254960
Combined Oxidative Phosphorylation Deficiency 52
Hyperamylasemia, Elevated circulating creatine kinase concentration, Pancreatitis, Hyperglycinemi... OMIM:619386
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hepatomegaly, Hypersplenism, Splenomegaly OMIM:610539
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Elevated circulating creatine kinase concentration OMIM:616052
Juvenile Polyposis Syndrome
Hypoproteinemia, Edema, Anasarca, Neoplasm of the pancreas, Extrahepatic portal hypertension, Hep... ORPHA:2929
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration OMIM:309930
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Elevated circulating creatine kinase concentration OMIM:612999
Familial Isolated Dilated Cardiomyopathy
Elevated circulating creatine kinase concentration ORPHA:154
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Polycystic liver disease OMIM:109130
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Splenomegaly, Macrovesicular hepatic steatosis, Hypoalbuminemia, Enlarged kidney OMIM:617303
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Hypercalcemia, Ascites, Polyhydramnios, Hydrops fetalis ORPHA:2123
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Elevated circulating creatine kinase concentration OMIM:613869
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Elevated circulating creatine kinase concentration OMIM:613723
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Hyperbilirubinemia, Hepatic fa... OMIM:214950
Dubin-Johnson Syndrome
Hepatomegaly, Abnormality of the liver, Conjugated hyperbilirubinemia, Biliary tract abnormality,... ORPHA:234
Alpha-Heavy Chain Disease
Hepatomegaly, Hypocalcemia, Ascites, Splenomegaly ORPHA:100025
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Steatorrhea, Hepatic failure, Elevated hepatic tr... OMIM:235555
Hemochromatosis, Type 1
Increased serum iron, Hepatomegaly, Hepatocellular carcinoma, Ascites, Cardiomegaly, Splenomegaly... OMIM:235200
Propionic Acidemia
Hepatomegaly, Hyperammonemia ORPHA:35
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Elevated circulating creatine kinase concentration OMIM:613158
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Elevated circulating creatine kinase concentration OMIM:253601
Mogs-Cdg
Hepatomegaly, Edema, Cardiomegaly, Polyhydramnios, Left ventricular hypertrophy, Hepatosplenomega... ORPHA:79330
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Elevated circulating creatine kinase concentration, Hepatomegaly OMIM:251900
Glycogen Storage Disease, Type Ixd
Elevated circulating creatine kinase concentration OMIM:300559
Bacterial Toxic-Shock Syndrome
Peritonitis, Elevated circulating creatine kinase concentration, Edema, Hepatitis, Elevated circu... ORPHA:36234
Dimethylglycine Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration ORPHA:243343
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Decreased plasma free carnitine, Hyperalaninemia, Left ventricular hypertrophy, Hep... OMIM:619048
Dimethylglycine Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating N,N-dimethylglycine conc... OMIM:605850
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Nonimmune hydrops fetalis, Cardiomegaly, Decr... OMIM:618838
Glycogen Storage Disease Ixc
Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly, Cirrhosi... OMIM:613027
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Decreased plasma free carnitine, Elevated circulating creatine kinase concentration... ORPHA:228305
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Oligohydramnios, Generalized edema OMIM:249210
Porphyria Cutanea Tarda
Increased serum iron, Elevated hepatic iron concentration, Hepatocellular carcinoma, Chronic hepa... ORPHA:101330
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Cholelithiasis, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice OMIM:605479
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Elevated circulating creatine kinase concentration OMIM:613157
Muscular Dystrophy, Limb-Girdle, Type 1H
Elevated circulating creatine kinase concentration OMIM:613530
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased C-peptide level, Decreased circulating free fatty... ORPHA:276556
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Conjugated hyperbilirubinemia, I... OMIM:601847
Dpagt1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Anasarca ORPHA:86309
Glutaric Acidemia Type 3
Abnormality of circulating enzyme level, Elevated circulating glutaric acid concentration ORPHA:35706
Ovarian Hyperstimulation Syndrome
Ascites, Pulmonary edema, Pleural effusion, Peripheral edema, Generalized edema, Enlarged polycys... ORPHA:64739
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Increased serum pyruvate OMIM:614741
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Decreased HDL cholesterol concentration, Increased hepatic echogenicity, Hepatic fi... OMIM:278000
Myoglobinuria, Autosomal Dominant
Elevated circulating creatine kinase concentration OMIM:160010
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Focal pancreatic islet hyperplasia, Diffuse pancreatic islet hyperplasia, Decreased... ORPHA:276575
Biliary, Renal, Neurologic, And Skeletal Syndrome
Splenomegaly, Increased circulating ferritin concentration, Conjugated hyperbilirubinemia, Prolon... OMIM:619534
Johanson-Blizzard Syndrome
Increased VLDL cholesterol concentration, Anasarca, Cholestasis, Hepatic failure, Hypocalcemia, E... OMIM:243800
Glycogen Storage Disease Xi
Elevated circulating creatine kinase concentration, Increased serum pyruvate OMIM:612933
Facioscapulohumeral Dystrophy
Elevated circulating creatine kinase concentration, Palpebral edema ORPHA:269
Leber Congenital Amaurosis 1
Hepatomegaly, Hyperthreoninemia OMIM:204000
Pyruvate Carboxylase Deficiency
Hepatomegaly, Increased serum pyruvate, Hyperalaninemia OMIM:266150
Fetal Akinesia Deformation Sequence 3
Generalized edema OMIM:618389
Galloway-Mowat Syndrome 3
Edema, Oligohydramnios, Hypoalbuminemia OMIM:617729
Infantile Sialic Acid Storage Disease
Hepatomegaly, Ascites, Cardiomegaly, Splenomegaly, Conjugated hyperbilirubinemia, Hydrops fetalis OMIM:269920
Cirrhotic Cardiomyopathy
Hepatomegaly, Ascites, Increased circulating galectin-3 level, Cardiomegaly, Abnormal B-type natr... ORPHA:57777
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Hepatocellular necrosis, Elevated circulating creatine kinase concentration, Cardio... OMIM:201475
Focal Myositis
Elevated circulating creatine kinase concentration ORPHA:48918
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Polyhydramnios, Splenomegaly OMIM:618541
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Elevated circulating creatine kinase concentration, Hypoalbuminemia OMIM:619055
Alpha-B Crystallin-Related Late-Onset Myopathy
Abnormal circulating creatine kinase concentration ORPHA:399058
Galactosemia I
Hepatomegaly, Hypergalactosemia, Increased level of galactitol in red blood cells, Cirrhosis, Dec... OMIM:230400
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Hyperlipidemia, Elevated circulating creatine kinase concentration, Hepatic steatos... ORPHA:435660
Eisenmenger Syndrome
Hepatomegaly, Elevated circulating C-reactive protein concentration, Ascites, Abnormal B-type nat... ORPHA:97214
Glycogen Storage Disease X
Elevated circulating creatine kinase concentration OMIM:261670
Glycogen Storage Disease V
Elevated circulating creatine kinase concentration OMIM:232600
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial effusion, Hypoalbuminemia, Pleural effusion, Periorbital edema, Lymphedema OMIM:235510
Dent Disease 2
Elevated circulating creatine kinase concentration, Elevated circulating aspartate aminotransfera... OMIM:300555
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia OMIM:608600
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly OMIM:605911
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
B4Galt1-Cdg
Hepatomegaly, Elevated circulating creatine kinase concentration, Decreased LDL cholesterol conce... ORPHA:79332
Alg12-Cdg
Hyponatremia, Hypocholesterolemia, Edema, Polyhydramnios, Hypoalbuminemia, Elevated hepatic trans... ORPHA:79324
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, D... ORPHA:42
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Hepatitis, Cholelithiasis, Splenomegaly, Increased circulating ferritin concentrati... OMIM:194380
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Hyperammonemia, Hepatic steatosis, Acute hepatic failure, Cholestasis... OMIM:618641
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Abnormal circulating fatty-acid concentration, Ch... ORPHA:567983
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration, Generalized edema OMIM:617478
Heme Oxygenase 1 Deficiency
Hepatomegaly, Asplenia, Increased circulating ferritin concentration, Elevated circulating alanin... OMIM:614034
Carnitine Deficiency, Systemic Primary
Decreased carnitine level in liver, Hepatomegaly, Cardiomegaly, Hyperammonemia, Hepatic steatosis... OMIM:212140
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased C-peptide level, Hepatomegaly ORPHA:276580
Congenital Disorder Of Glycosylation, Type Iir
Hepatomegaly, Ascites, Micronodular cirrhosis, Decreased liver function, Hepatic steatosis, Eleva... OMIM:301045
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Hepatocellular carcinoma, Elevated circulating c... ORPHA:370
Lymphoproliferative Syndrome 1
Hepatomegaly, Pericardial effusion, Splenomegaly, Increased circulating ferritin concentration, E... OMIM:613011
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jau... OMIM:211600
Hypermanganesemia With Dystonia 1
Hepatomegaly, Unconjugated hyperbilirubinemia, Hypermanganesemia, Cirrhosis, Decreased liver func... OMIM:613280
Pmm2-Cdg
Hepatic fibrosis, Pericardial effusion, Anasarca, Abnormal liver parenchyma morphology, Reduced t... ORPHA:79318
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Edema, Acute hepatic failure, Hepatosplenomegaly, Elevated hepatic transaminase, El... OMIM:619644
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Increased C-peptide level, Decreased circulating free fatty acid level ORPHA:324575
Combined Oxidative Phosphorylation Deficiency 40
Decreased liver function, Nonimmune hydrops fetalis, Decreased circulating cortisol level, Elevat... OMIM:618835
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Hepatitis, Hypocalcemia, Splenomegaly, Hypomagnesemia, Hypoalbuminemi... ORPHA:37042
Combined Oxidative Phosphorylation Deficiency 42
Decreased liver function, Nonimmune hydrops fetalis, Decreased circulating cortisol level, Elevat... OMIM:618839
Adult-Onset Still Disease
Hepatomegaly, Abnormal circulating lipid concentration, Hepatitis, Splenomegaly, Elevated hepatic... ORPHA:829
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hyponatremia, Edema, Pancreatitis, Pleural empyema, Hypocalcemia, Generalized edema ORPHA:544482
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Abnormal serum bil... ORPHA:79303
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Increased serum pyruvate ORPHA:2364
Pyruvate Dehydrogenase E3 Deficiency
Hepatomegaly, Hyperisoleucinemia, Hyperammonemia, Elevated plasma branched chain amino acids, Hep... ORPHA:2394
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Hepatomegaly, Steatorrhea OMIM:266510
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Enlarged ovaries, Abnormal circulating fatty-acid conce... ORPHA:2298
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly, Hyperalaninemia, Hyperprolinemia, Elevated hepatic transaminase OMIM:619064
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hepatic steatosis ORPHA:79085
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Pancreatitis, Hyperammonemia, Splenomegaly, Dehydration ORPHA:79312
Central Core Disease
Elevated circulating creatine kinase concentration, Abnormal circulating creatine kinase concentr... ORPHA:597
Becker Muscular Dystrophy
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration ORPHA:98895
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Transient hyperlipidemia, Hepatic failure ORPHA:156
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevated hepatic trans... ORPHA:79301
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hepatomegaly, Hyperammonemia OMIM:604273
Dengue Fever
Hypoproteinemia, Hepatomegaly, Ascites ORPHA:99828
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:185000
Spinal muscular atrophy, type I, with congenital bone fractures
Generalized edema OMIM:271225
Fish-Eye Disease
Hepatomegaly, Decreased HDL cholesterol concentration, Splenomegaly ORPHA:79292
Galactokinase Deficiency
Hepatomegaly, Hypergalactosemia, Hypercholesterolemia, Hepatosplenomegaly, Increased level of gal... ORPHA:79237
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Hepatic steatosis, Cerebral edema, Elevated hepatic transaminase, Decreased plasma ... OMIM:201450
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum zinc, Decreased serum iron, Abnormal circulating selenium concentration, Hypoalbu... ORPHA:89842
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Hyperalaninemia, Hepatic steatosis, Elevated circulating alanine aminotransferase c... OMIM:614582
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Methylmalonic acidemia, Pancreatitis, Hyperglycinemia, Hyperammonemia, Dehydration OMIM:251000
Myotonia, Potassium-Aggravated
Elevated circulating creatine kinase concentration OMIM:608390
Caroli Disease
Cholangitis, Hepatomegaly, Cholangiocarcinoma, Hepatic fibrosis, Ascites, Cholelithiasis, Splenom... ORPHA:53035
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Hyperlipidemia, Pancreatitis, Hepatic steatosis, Hypertriglyceridemia ORPHA:435651
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Elevat... OMIM:615559
Congenital Generalized Lipodystrophy
Hepatomegaly, Cirrhosis, Hepatic steatosis, Hypercholesterolemia, Hypertriglyceridemia, Increased... ORPHA:528
Tyrosinemia Type 1
Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Dehydration, Pancreatitis, Hyperammonemia ORPHA:27
Hyperzincemia With Functional Zinc Depletion
Hepatomegaly, Increased serum zinc OMIM:601979
Congenital Disorder Of Glycosylation, Type Ie
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:608799
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Griscelli Syndrome Type 2
Jaundice, Hepatomegaly, Hyperlipidemia, Splenomegaly ORPHA:79477
Symptomatic Form Of Hemochromatosis Type 1
Hepatomegaly, Abnormality of iron homeostasis, Cholangiocarcinoma, Hepatocellular carcinoma, Card... ORPHA:465508
Hellp Syndrome
Elevated hepatic transaminase, Pulmonary edema, Generalized edema, Pleural effusion ORPHA:244242
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Hepatosplenomegaly, Enlarged kidney ORPHA:505248
Amyloidosis, Familial Visceral
Hepatomegaly, Edema, Cholestasis, Splenomegaly OMIM:105200
Dysplastic Cortical Hyperostosis
Hepatomegaly, Hydrops fetalis, Polyhydramnios, Splenomegaly ORPHA:2204
Omenn Syndrome
Hypoproteinemia, Hepatomegaly, Splenomegaly OMIM:603554
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia, Hepatic steatos... OMIM:212138
Tyrosinemia, Type I
Hepatomegaly, Hepatocellular carcinoma, Ascites, Hypertyrosinemia, Splenomegaly, Cirrhosis, Pancr... OMIM:276700
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Elevated circulating creatine kinase concentrati... ORPHA:264580
Beta-Thalassemia
Hepatomegaly, Abnormality of iron homeostasis, Hepatitis, Cholelithiasis, Splenomegaly ORPHA:848
Galactosemia
Hepatomegaly, Hypergalactosemia, Ascites, Cirrhosis, Hepatic failure, Elevated hepatic transamina... ORPHA:352
Trichohepatoenteric Syndrome 2
Cirrhosis, Hepatomegaly, Hepatitis, Decreased serum iron OMIM:614602
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Elevated circulating creatine kinase co... ORPHA:79240
Combined Oxidative Phosphorylation Deficiency 53
Hepatomegaly, Elevated circulating C-reactive protein concentration OMIM:619423
Galloway-Mowat Syndrome 1
Oligohydramnios, Hypoalbuminemia OMIM:251300
Myopathy With Extrapyramidal Signs
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypervalinemia, Extremely eleva... OMIM:615673
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Abnormal circulating creatine kinase concentration, Micronodular cirrhosis, Hepatic... ORPHA:98907
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Pancreatitis, Hyperammonemia ORPHA:289916
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Elevated hepatic transaminase, Hepatomegaly, Polyhydramnios, Elevated circulating creatine kinase... ORPHA:329178
Marburg Hemorrhagic Fever
Hyperamylasemia, Hypokalemia, Elevated circulating creatine kinase concentration, Elevated circul... ORPHA:99826
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia ORPHA:363400
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Jaundice, Hepatomegaly, Hyperkalemia, Splenomegaly OMIM:608885
Citrullinemia, Classic
Hepatomegaly, Hyperglutaminemia, Hypoargininemia, Hyperammonemia, Cirrhosis, Cerebral edema, Epis... OMIM:215700
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Peau d'orange, Elevated circulating creatine kinase concentration, Splenomegaly, Ci... OMIM:614576
Griscelli Syndrome
Hepatomegaly, Ascites, Abnormal circulating lipid concentration, Hepatitis, Splenomegaly, Pedal e... ORPHA:381
Hemoglobin H Disease
Hepatomegaly, Splenomegaly OMIM:613978
Glycogen Storage Disease Ii
Elevated circulating creatine kinase concentration, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Dehydrated Hereditary Stomatocytosis 2
Jaundice, Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:616689
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Acute hepatitis, Hyperammonemia, Decreased liver function, Hyperornithinemia OMIM:238970
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Elevated creatine kinase after exercise, Hyperammonemia, Elevated circulating acylc... ORPHA:159
Isolated Biliary Atresia
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli... ORPHA:30391
Cinca Syndrome
Hepatomegaly, Edema, Elevated circulating C-reactive protein concentration, Splenomegaly ORPHA:1451
Tropical Endomyocardial Fibrosis
Hepatomegaly, Ascites, Cardiomegaly, Splenomegaly, Hypoalbuminemia, Pedal edema, Peripheral edema ORPHA:75565
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic fibrosis, Hepatic failure, Splenomegaly OMIM:616719
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia ORPHA:79396
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia OMIM:615381
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Acholic stools, Hepatitis, Splenomegaly, Cirrhosis, Steatorrhea, Hepatic failure, E... OMIM:613812
Combined Oxidative Phosphorylation Deficiency 4
Hepatomegaly, Hyperammonemia OMIM:610678
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hepatomegaly, Oligohydramnios, Hyperammonemia ORPHA:1194
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoproteinemia, Pericardial effusion, Elevated circulating creatine kinase concent... ORPHA:26793
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Hepatic calcification, Decreased plasma free carnitine, Hyperlipidemia, Elevated ci... ORPHA:157
Familial Dilated Cardiomyopathy
Left ventricular hypertrophy, Abnormal circulating creatine kinase concentration ORPHA:217607
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Hepatomegaly, Elevated circulating C-reactive protein concentration, Joint swelling, Splenomegaly OMIM:612852
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Splenomegaly OMIM:606445
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Hypoproteinemia, Ascites, Polyhydramnios, Splenomegaly, Pancreatic lymphangiectasis... OMIM:235255
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly OMIM:617388
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Low plasma citrulline, Hepatic failure, Hepatic steatosis OMIM:261680
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Increased hepatic glycogen content, Elevated hepatic transaminase, Elevated circula... OMIM:614921
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Elevated circulating creatine kinase concentration, Hepatomegaly OMIM:619424
Chylomicron Retention Disease
Hypocholesterolemia, Increased hepatocellular lipid droplets, Hepatic steatosis, Steatorrhea, Ele... ORPHA:71
Juvenile Polyposis Of Infancy
Hypoalbuminemia ORPHA:79076
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia, Hepatomegaly, Polyhydramnios OMIM:618810
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Hepatomegaly, Hyperglutaminemia, Hyperalaninemia, Acute hyperammonemia, Hyperammonemia ORPHA:927
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Decreased circulating ferritin concentration, Micronodular cirrhosis, Abnormal bloo... ORPHA:309854
Tangier Disease
Left ventricular hypertrophy, Hepatomegaly, Decreased HDL cholesterol concentration, Splenomegaly OMIM:205400
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Ascites, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, Splen... OMIM:619463
Hepatitis, Fulminant Viral, Susceptibility To
Hepatomegaly, Fulminant hepatitis, Hepatic failure, Elevated hepatic transaminase, Jaundice OMIM:618549
Fanconi-Bickel Syndrome
Hepatomegaly, Hepatocellular carcinoma, Increased hepatic glycogen content, Abnormal hepatic glyc... ORPHA:2088
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hepatic calcification, Decreased plasma free carnitine, Hyperlipidemia, Elevated ci... ORPHA:228308
Cardiomyopathy, Familial Restrictive, 6
Hepatomegaly, Hydrops fetalis, Ascites OMIM:619433
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Methylmalonic acidemia, Hyperglycinemia, Hyperammonemia, Dehydration OMIM:251110
Dpm1-Cdg
Hepatomegaly, Hepatic fibrosis, Elevated circulating creatine kinase concentration, Hepatic steat... ORPHA:79322
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Elevated hepatic transaminase, Biliary cirrho... OMIM:617394
Dysbetalipoproteinemia
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, H... ORPHA:412
Argininemia
Hepatomegaly, Portal fibrosis, Micronodular cirrhosis, Hyperammonemia, Cholestasis, Hyperargininemia OMIM:207800
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Splenomegaly, Cirrhosis, Elevated hepatic... OMIM:602347
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hepatic steatosis... OMIM:613327
Caroli Syndrome
Abnormality of the intrahepatic bile duct, Cholangitis, Hepatomegaly, Cholangiocarcinoma, Elevate... ORPHA:480520
Argininosuccinic Aciduria
Hepatomegaly, Hepatic fibrosis, Hyperglutaminemia, Hypoargininemia, Hyperammonemia, Elevated circ... OMIM:207900
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Pancreatitis, Splenomegaly, Cirrhosis, Hepatic steatosis, Hyperuricemia, Hypertrigl... ORPHA:79083
Interstitial Lung And Liver Disease
Hepatomegaly, Hepatic fibrosis, Hyperammonemia, Cirrhosis, Hepatic steatosis, Elevated circulatin... OMIM:615486
Cystic Echinococcosis
Hepatomegaly, Splenic cyst, Peritoneal abscess, Biliary tract obstruction, Hepatic cysts, Abnorma... ORPHA:400
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Decreased plasma carnitine, Hyperuricemia, Hyperammonemia OMIM:246450
Infantile Refsum Disease
Hepatomegaly, Elevated levels of phytanic acid ORPHA:772
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Hepatitis, Hepatic failure, Jaundice ORPHA:60
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Chylopericardium, Ascites, Splenomegaly, Pleural effusion, Hydrops fetalis ORPHA:2414
Immunodeficiency 82 With Systemic Inflammation
Hypernatremia, Hepatitis, Splenomegaly, Hypoalbuminemia, Elevated circulating C-reactive protein ... OMIM:619381
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Methylmalonic acidemia, Hyperglycinemia, Hyperammonemia, Dehydration OMIM:251100
Reynolds Syndrome
Hepatomegaly, Calcinosis, Hyperbilirubinemia, Splenomegaly, Steatorrhea, Elevated hepatic transam... OMIM:613471
Beta-Thalassemia Intermedia
Hepatomegaly, Abnormality of iron homeostasis, Elevated hepatic iron concentration, Hepatocellula... ORPHA:231222
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Hepatic calcification, Decreased plasma free carnitine, Elevated circulating long c... OMIM:608836
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Hyperproteinemia, Splenomegaly, Increased circulating ferritin concentration, Hyper... ORPHA:158048
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Hypoproteinemia, Ascites, Polyhydramnios, Splenomegaly, Hepatosplenomegaly, Pancrea... ORPHA:1655
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Ascites, Hyperbilirubinemia, Splenomegaly, Hepatic failure, Hypocalcemia OMIM:259720
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Hypouricemia OMIM:616026
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Polyhydramnios, Splenomegaly, Oligohydramnios, Hydrops fetalis ORPHA:163596
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia, Decreased liver... ORPHA:26791
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Pancreatitis, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia ORPHA:2348
Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Increased hepatic glycogen content, Abnormal circulating fatty-acid concentration, ... ORPHA:263455
Immunodeficiency 47
Hepatomegaly, Hepatic fibrosis, Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Accessory... OMIM:300972
Familial Mediterranean Fever
Hepatomegaly, Peritonitis, Elevated circulating amyloid A, Splenomegaly, Elevated circulating C-r... OMIM:249100
Propionic Acidemia
Hepatomegaly, Pancreatitis, Hyperglycinemia, Hyperammonemia, Dehydration OMIM:606054
Neutral Lipid Storage Myopathy
Hepatomegaly, Abnormal circulating creatine kinase concentration, Hepatic steatosis, Chronic panc... ORPHA:98908
Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Hyperlipidemia, Elevated circulating creatine kinase concentration, Pancreatitis, S... ORPHA:565612
Wilson Disease
Hepatomegaly, Hepatitis, Acute hepatitis, Splenomegaly, Cirrhosis, Hepatic steatosis, Acute hepat... ORPHA:905
Acquired Generalized Lipodystrophy
Hepatomegaly, Abnormal circulating lipid concentration, Cirrhosis, Hepatic steatosis, Acute pancr... ORPHA:79086
Glycogen Storage Disease Ia
Hepatomegaly, Hepatocellular carcinoma, Hyperlipidemia, Pancreatitis, Hyperuricemia, Xanthelasma,... OMIM:232200
Polymyositis
Elevated circulating creatine kinase concentration, Hepatomegaly ORPHA:732
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ... ORPHA:308552
Niemann-Pick Disease, Type C2
Fetal ascites, Hepatomegaly, Abnormal circulating cholesterol concentration, Splenomegaly, Prolon... OMIM:607625
Nephronophthisis 19
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Splenomegaly, Cholestasis OMIM:616217
Budd-Chiari Syndrome
Hepatomegaly, Ascites, Peritonitis, Splenomegaly, Cirrhosis, Acute hepatic failure, Cholecystitis... ORPHA:131
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Periorbital edema OMIM:617591
Glycogen Storage Disease Ib
Hepatomegaly, Hepatocellular carcinoma, Hyperlipidemia, Pancreatitis, Hyperuricemia, Xanthelasma,... OMIM:232220
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Decreased liver f... OMIM:608779
Wolman Disease
Hepatomegaly, Ascites, Splenomegaly, Steatorrhea, Hepatic failure ORPHA:75233
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
Hypoalbuminemia OMIM:614748
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Elevated circulating creatinine concentration OMIM:614376
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Neonatal hyperbilirubinemia, Hyperuricemia, Hyperalaninemia, Hepatic steatosis, Ele... ORPHA:348
Peroxisome Biogenesis Disorder 1B
Cirrhosis, Hepatomegaly, Hepatic fibrosis, Hyperoxaluria OMIM:601539
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Hepatic fibrosis, Asplenia, Oligohydramnios, Cholestasis, Enlarged kidney OMIM:615415
Glutaric Acidemia I
Hepatomegaly, Elevated circulating glutaric acid concentration OMIM:231670
Hereditary Spherocytosis
Hepatomegaly, Hyperbilirubinemia, Cholelithiasis, Splenomegaly, Jaundice ORPHA:822
Beta-Ketothiolase Deficiency
Hepatomegaly, Edema, Hyperuricemia, Hyperammonemia, Dehydration ORPHA:134
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice ORPHA:59303
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hepatic steatosis, Elevated circulating glutaric acid concentration, Hepatic peripo... OMIM:231680
Sepsis In Premature Infants
Hepatomegaly, Edema, Splenomegaly, Decreased liver function, Elevated circulating C-reactive prot... ORPHA:90051
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Pancreatic cysts, Hepatic cysts, Splenomegaly, Oligohydramnios, Portal hypertension... OMIM:263200
Wilson Disease
Hepatomegaly, Hepatocellular carcinoma, Cirrhosis, Hepatic failure, High nonceruloplasmin-bound s... OMIM:277900
Ppoma
Hepatomegaly, Hypercalcemia, Ascites, Increased circulating cortisol level, Neoplasm of the pancr... ORPHA:97278
Lysinuric Protein Intolerance
Hyperglycinemia, Hyperammonemia, Increased circulating ferritin concentration, Hepatosplenomegaly... ORPHA:470
Combined Oxidative Phosphorylation Deficiency 3
Elevated circulating creatine kinase concentration, Hepatomegaly OMIM:610505
Vipoma
Hepatomegaly, Hypercalcemia, Ascites, Hypokalemia, Increased circulating cortisol level, Neoplasm... ORPHA:97282
Sea-Blue Histiocytosis
Hepatomegaly, Edema, Splenomegaly ORPHA:158029
Primary Hyperoxaluria Type 1
Abnormality of circulating enzyme level, Calcinosis, Hyperoxaluria ORPHA:93598
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Decreased HDL cholesterol concentration, Elevated circulating creatinine concentrat... ORPHA:85450
Alstrom Syndrome
Hepatomegaly, Chronic active hepatitis, Decreased HDL cholesterol concentration, Hyperuricemia, H... OMIM:203800
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Elevated circulating creatine kin... OMIM:615356
Hereditary Fructose Intolerance
Hepatomegaly, Hypophosphatemia, Hyperuricemia, Hypermagnesemia, Chronic hepatic failure, Jaundice ORPHA:469
Somatostatinoma
Hepatomegaly, Hypercalcemia, Ascites, Gallbladder dysfunction, Increased circulating cortisol lev... ORPHA:97283
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Hypercalcemia, Calcinosis, Hypophosphatemia, Splenomegaly OMIM:239200
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Bile duct proliferation, Hepatic cyst... OMIM:208540
Mastocytosis
Angioedema, Hepatomegaly, Hypercalcemia, Splenomegaly ORPHA:98292
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatomegaly, Hepatic cysts OMIM:617004
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Lipid accumulation in hepatocytes, Edema, Hyperammonemia, Hyperuricemia, Acute panc... ORPHA:20
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Hyperechogenic pancreas, Abnormal liver parench... ORPHA:456312
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology ORPHA:1332
Glycogen Storage Disease Ic
Hepatomegaly, Hyperlipidemia, Hepatocellular carcinoma, Hepatoblastoma, Hyperuricemia, Xanthelasm... OMIM:232240
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Decreased HDL cholesterol concentration, Hypercholesterolemia, Hepatic steatosis, A... OMIM:151660
Diaphanospondylodysostosis
Abnormal liver lobulation, Increased nuchal translucency, Oligohydramnios, Enlarged kidney OMIM:608022
Oculoskeletodental Syndrome
Hepatomegaly, Hypercalcemia, Hypocalcemia, Splenomegaly OMIM:618440
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hyperlysinemia, Hypernatremia, Neonatal hyperbilirubinemia, Increased level of L-gl... ORPHA:3008
Neu-Laxova Syndrome 1
Generalized edema, Polyhydramnios OMIM:256520
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Splenomegaly, Steatorrhea, Exocrine pancreatic insufficiency, Jaundice OMIM:612714
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Microvesicular hepatic steatosis, Hepatomegaly, Macronodular cirrhosis, Splenomegaly, Cirrhosis, ... OMIM:619418
Fructose Intolerance, Hereditary
Hepatomegaly, Hypophosphatemia, Hyperbilirubinemia, Hyperuricosuria, Cirrhosis, Hepatic steatosis... OMIM:229600
Transketolase Deficiency
Hepatomegaly, Elevated circulating ribitol concentration ORPHA:488618
Biotinidase Deficiency
Hyperammonemia, Hepatomegaly, Splenomegaly OMIM:253260
Grfoma
Hepatomegaly, Hypercalcemia, Ascites, Increased circulating cortisol level, Neoplasm of the pancr... ORPHA:97261
Cardiomyopathy, Familial Hypertrophic, 4
Hepatomegaly, Pericardial effusion, Ascites, Cardiomegaly, Pulmonary edema OMIM:115197
Meckel Syndrome, Type 3
Bile duct proliferation, Hepatomegaly, Malformation of the hepatic ductal plate, Hepatic fibrosis OMIM:607361
Beta-Thalassemia Major
Hepatomegaly, Abnormality of iron homeostasis, Hepatic fibrosis, Hepatocellular carcinoma, Spleno... ORPHA:231214
Pearson Syndrome
Hepatomegaly, Hypokalemia, Macronodular cirrhosis, Corneal stromal edema, Hydrops fetalis, Hypoph... ORPHA:699
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Hepatitis, Hyperammonemia, Decreased liver function, Abnormal circulating citrullin... ORPHA:415
Pancreatitis, Sclerosing Cholangitis, And Sicca Complex
Hepatomegaly, Xerostomia, Pancreatitis, Sclerosing cholangitis, Jaundice OMIM:260480
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Decreased HDL cholesterol concentration, Hyperlipidemia, Increased LDL cholesterol ... ORPHA:77293
Lysinuric Protein Intolerance
Hepatomegaly, Pancreatitis, Hyperammonemia, Splenomegaly, Increased circulating ferritin concentr... OMIM:222700
Glucagonoma
Hepatomegaly, Hypercalcemia, Ascites, Increased circulating cortisol level, Neoplasm of the pancr... ORPHA:97280
Caroli Disease, Isolated
Hepatomegaly, Cholangitis, Portal hypertension, Liver abscess OMIM:600643
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Edema, Splenomegaly ORPHA:33577
Mosaic Trisomy 9
Asplenia, Polyhydramnios, Abnormal liver lobulation, Oligohydramnios, Hydrops fetalis ORPHA:99776
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic steatosis, Acute pancreatitis, Hypertriglyceridemi... OMIM:608594
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Edema, Splenomegaly OMIM:619183
Cystic Fibrosis
Hepatomegaly, Biliary cirrhosis, Exocrine pancreatic insufficiency ORPHA:586
Klatskin Tumor
Hepatomegaly, Extrahepatic cholestasis, Cholangiocarcinoma, Jaundice ORPHA:99978
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Hepatocellular carcinoma, Increased hepatic glycogen content, Hyperlipidemia, Hepat... ORPHA:79259
Pulmonary Alveolar Microlithiasis
Increased circulating surfactant protein level, Hepatomegaly, Peripheral edema ORPHA:60025
Hardikar Syndrome
Cholangitis, Hepatomegaly, Hepatic fibrosis, Elevated hepatic transaminase, Intrahepatic bile duc... OMIM:301068
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic steatosis, Acute pancreatitis, Hypertriglyceridemi... OMIM:269700
Leptospirosis
Hepatomegaly, Hyperproteinemia, Elevated serum transaminases during infections, Hepatitis, Pleura... ORPHA:509
Syndromic Diarrhea
Hepatomegaly, Abnormality of iron homeostasis, Hepatic fibrosis, Hepatoblastoma, Splenomegaly, Ci... ORPHA:84064
Osteopetrosis With Renal Tubular Acidosis
Elevated circulating creatine kinase concentration, Hepatomegaly, Oligohydramnios, Hypocalcemia ORPHA:2785
Sarcoidosis
Hepatomegaly, Hypercalcemia, Abnormal liver parenchyma morphology, Decreased liver function, Hepa... ORPHA:797
Kikuchi-Fujimoto Disease
Hepatomegaly, Splenomegaly, Palpebral edema, Elevated hepatic transaminase, Elevated circulating ... ORPHA:50918
Leprechaunism
Hepatomegaly, Hypokalemia, Enlarged ovaries, Hyperaldosteronism, Increased circulating renin leve... ORPHA:508
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Hypocalcemic seizures, Splenomegaly OMIM:612301
Cystic Fibrosis
Hepatomegaly, Pancreatitis, Cirrhosis, Hepatosplenomegaly, Steatorrhea, Exocrine pancreatic insuf... 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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MGI Allele Allele Type Produced
Bpnt1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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