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Gene: Gnmt MGI:1202304

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
glycine N-methyltransferase
Synonyms:
glycine N methyl transferase

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 Gnmt mutations

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypermethioninemia OMIM:606664

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Incr... OMIM:232700
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypermethioninemia OMIM:606664
Hemochromatosis, Neonatal
Cirrhosis, Abnormality of iron homeostasis, Cholestasis, Hypoglycemia, Hepatocellular necrosis, P... OMIM:231100
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Increased serum bile acid concentration, Elevated circul... OMIM:619868
Immunodeficiency 32B
Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Hypoalbuminemi... OMIM:226990
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con... OMIM:616828
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Sple... OMIM:614480
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Hypercholesterolemia, Elevated circulating hepatic transaminase concent... OMIM:616829
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Thrombocytopenia, Splenom... OMIM:603552
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Increased serum bile acid concentration, Elevated circulating alanine aminotransfer... OMIM:619874
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hepatomegaly, Hypercholesterolemia, Hypocalcemia, Hepatosplenomegaly, Splen... OMIM:612526
Pediatric Hepatocellular Carcinoma
Hepatomegaly, Portal vein thrombosis, Hepatic necrosis, Elevated circulating alpha-fetoprotein co... ORPHA:33402
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia, Increased LD... OMIM:615703
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Hodgkin lymphoma, ... ORPHA:158057
Dietary Iron Overload Disease
Increased circulating ferritin concentration, Hepatomegaly, Abnormal pancreas morphology, Hepatoc... ORPHA:139507
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Lymphocytosis, Lymphoma, Splenomegaly, Hemolytic anemia, Autoimmune t... OMIM:614470
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary... OMIM:615285
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hype... OMIM:306000
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Mildly elevated creatine kinase, Hepatic steatosis, Elevated circulating hepatic transaminase con... OMIM:618400
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Pancytopenia, Hypoglycemia, Increased blood urea nitrogen, Elevated circulating cre... OMIM:617872
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, ... OMIM:619802
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Anemia, Increased circulating ferritin concentration, Impaired glucose t... OMIM:606069
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia, Hepatic steatosis, Hepatic failure OMIM:261650
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Generalized amin... OMIM:251880
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:615395
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hypercholesterolemia, Hepa... ORPHA:75234
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Increased hepatic glycoge... ORPHA:293964
Diarrhea 13
Hypoalbuminemia, Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Recu... OMIM:620357
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Hemochromatosis, Type 3
Cirrhosis, Elevated circulating hepatic transaminase concentration, Anemia, Increased circulating... OMIM:604250
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Periportal fibrosis, Decreased circulating carnitine concentration, Elevated circul... OMIM:201475
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Leukopenia, Splenomeg... OMIM:278000
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Hepa... OMIM:301045
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Refra... ORPHA:75564
Immunodeficiency 21
Aplastic anemia, Cervical intraepithelial neoplasia, Anemia, Neutropenia, B lymphocytopenia, Lymp... OMIM:614172
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, B lymphocytopenia, T lymphocytopenia, Leukopenia, Hepatosplenomegaly, Lymphopenia, ... OMIM:618986
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Elevated circulating hepatic transaminase concentra... ORPHA:71212
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly, Splenomegaly OMIM:619175
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hypoketotic hypoglycemia, Hepatic necrosis, Fulminant hepatic failure, Hep... OMIM:231530
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly, Myelodysplasia OMIM:162830
Galactosemia Iv
Prolonged neonatal jaundice, Hepatomegaly, Hypergalactosemia OMIM:618881
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Elevated circulating C-reactive protein concentr... OMIM:308240
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Hepatic steatosis, Insulin-resistant diabetes mellitus ORPHA:436182
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Hyperalaninemia, Elevated circulating alanine aminotransferase concentration, Decre... OMIM:619048
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... OMIM:615158
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hepatomegaly OMIM:609016
Combined Oxidative Phosphorylation Deficiency 52
Pancreatitis, Hyperamylasemia, Hyperalaninemia, Elevated circulating creatine kinase concentratio... OMIM:619386
Patent Ductus Venosus
Decreased liver function, Hyperammonemia, Hypergalactosemia, Hepatic steatosis OMIM:601466
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Pancreatitis, Hyperinsulinemia, Insulin resistance, Diabetes mellitus, Hepatic stea... ORPHA:79084
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Elevated plasma citrulline, Pancreatitis, Argininosuccinic aciduria, Portal... OMIM:603471
Acquired Partial Lipodystrophy
Lymphocytosis, Insulin resistance, Hepatic steatosis ORPHA:79087
Bilateral Striopallidodentate Calcinosis
Abnormality of the liver, Hepatomegaly, Thrombocytopenia ORPHA:1980
Griscelli Syndrome Type 2
Jaundice, Hepatomegaly, Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Neutropenia ORPHA:79477
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Cirrhosis, Intrahepatic cholestasis, Macrovesicular hepatic steatosis, Port... OMIM:605814
Carcinoid Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Elevated circulating hepatic trans... ORPHA:100093
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hepatomegaly, Increased serum bile acid concentration, Hyperbilirubinemia, Cholestasis,... OMIM:620010
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Glycogen Storage Disease Ixb
Increased muscle glycogen content, Hepatomegaly, Increased hepatic glycogen content, Hyperuricemi... OMIM:261750
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Pancreatitis, Anemia, Hyperammonemia, Thrombocytopenia, Neutropenia ORPHA:289916
Multiple Symmetric Lipomatosis
Insulin resistance, Multiple lipomas, Hepatomegaly ORPHA:2398
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Anemia, He... OMIM:607616
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Myelodysplasia... ORPHA:231401
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Refractory anemia with ringed sideroblasts, Thrombo... OMIM:133180
Cholestasis, Progressive Familial Intrahepatic, 8
Cirrhosis, Jaundice, Hepatomegaly, Increased serum bile acid concentration, Sclerosing cholangiti... OMIM:619662
Galactokinase Deficiency
Hyperinsulinemia, Hepatomegaly, Increased level of galactitol in plasma, Hypergalactosemia, Hepat... ORPHA:79237
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste... OMIM:600649
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Pancreatitis, Anemia, Hyperammonemia, Thrombocytopenia, Splenomegaly, Neutropenia ORPHA:79312
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Hepatic fibrosis, Hepatic steatosis, Insulin-resistant di... ORPHA:280356
Macrophage Activation Syndrome
Decreased liver function, Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal ... ORPHA:158061
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio... OMIM:616860
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Spl... OMIM:237800
Idiopathic Copper-Associated Cirrhosis
Copper accumulation in liver, Increased circulating copper concentration, Cirrhosis, Hepatic stea... ORPHA:209919
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Increased circulating iron concentration, Congenital hepatic fibrosi... ORPHA:446
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Hypoalbu... OMIM:618805
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Hepatomegaly, Splenomegaly OMIM:606445
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Hepatic steatosis, Elevated circulating acylcarnitine concentration ORPHA:26792
Lipodystrophy, Partial, Acquired, Susceptibility To
Abnormal circulating lipid concentration, Diabetes mellitus, Hepatic steatosis OMIM:608709
Galactosemia Iii
Jaundice, Hepatomegaly, Hypergalactosemia, Splenomegaly, Aminoaciduria OMIM:230350
Peroxisome Biogenesis Disorder 10A (Zellweger)
Hepatomegaly OMIM:614882
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Generalized aminoaciduria, Hepatic periportal necrosis, Glycosuria, Hypog... OMIM:231680
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
3-Methylglutaconic Aciduria Type 1
Hypoglycemia, Hepatomegaly ORPHA:67046
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Maternal diabetes, Decreased HDL cholesterol c... OMIM:604367
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration... OMIM:207750
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Increas... OMIM:613313
Tyrosinemia Type 1
Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Acute hepatic failure, Splenom... ORPHA:882
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Squamous cell carcinoma of... OMIM:127550
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Fasting hypoglycemia, Elevated circulating alanine aminotransferase concentration, ... OMIM:261680
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly OMIM:607685
Immunodeficiency 7
Autoimmune hemolytic anemia, Hepatomegaly, Splenomegaly, Hypereosinophilia, Neutropenia OMIM:615387
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Insulin resistance, Hepatic steatosis, Insulin-resistant diabetes mellitus OMIM:613877
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Liver abscess,... ORPHA:69663
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Hyperlipidemia, Elevated circulating creatine kinase co... OMIM:615980
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, Hepato... OMIM:616278
Infantile Liver Failure Syndrome 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Macrocytic anemia,... OMIM:615438
Propionic Acidemia
Hepatomegaly, Pancreatitis, Anemia, Pancytopenia, Hyperglycinuria, Hyperammonemia, Thrombocytopen... OMIM:606054
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia OMIM:618310
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Hepatomegaly, Increased C-peptide level, Diabetic ketoacidosis, Hepatic ste... OMIM:615238
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hyper... OMIM:214900
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr... OMIM:613027
Combined Oxidative Phosphorylation Deficiency 21
Hyperprolinemia, Hepatic steatosis, Hyperalaninemia OMIM:615918
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Neutropenia, Lymphopenia ORPHA:2688
Cog4-Cdg
Cirrhosis, Elevated circulating hepatic transaminase concentration, Thrombocytopenia, Hepatosplen... ORPHA:263501
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Anemia, Elevated circulating hepatic tra... ORPHA:264580
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hyperkalemia, Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated cir... OMIM:618528
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Abnorma... ORPHA:369840
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Immunodeficiency 104
Hepatomegaly, Splenomegaly, T lymphocytopenia OMIM:608971
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Pancreatitis, Methylmalonic acidemia, Hyperammonemia, Thrombocytopenia, Leukopenia,... OMIM:251000
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatomegaly, Cholestasis, Biliary cirrhosis, Hypoglycemia, Hyperammonemia, Patent ductus arterio... OMIM:620454
Wolcott-Rallison Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, Hepato... ORPHA:1667
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, B lymphocytopenia, Agranulocytosis, ... OMIM:301078
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Exocrine pancreatic insufficiency, Steatorrhea, Elevated circulating hepatic transaminase concent... OMIM:618752
Progressive Familial Intrahepatic Cholestasis
Jaundice, Hepatomegaly, Hypocalcemia, Cholestasis, Splenomegaly, Neoplasm ORPHA:172
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased circulating carn... OMIM:201450
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Cirrhosis, Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transaminase concentration... ORPHA:369
Obesity And Hypopigmentation
Hyperinsulinemia, Hepatic steatosis OMIM:620195
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Hepatomegaly, Splenomegaly ORPHA:417
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hepatomegaly, Hyperinsulinemia, Maturity-onset diab... ORPHA:324575
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, ... ORPHA:228305
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Decreased circulating carnitine concentration, Impaired gluconeogenesis, Microvesic... OMIM:212140
Methylmalonic Aciduria, Cblb Type
Elevated circulating methylmalonylcarnitine concentration, Hepatomegaly, Anemia, Methylmalonic ac... OMIM:251110
Galactose Epimerase Deficiency
Aminoaciduria, Jaundice, Splenomegaly, Hepatomegaly ORPHA:79238
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Macrovesicular hepatic steatosis, Hypercholesterolemia, Acute hepatic steat... ORPHA:209902
Multiple Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... ORPHA:26791
Gracile Syndrome
Cirrhosis, Decreased transferrin saturation, Cholestasis, Elevated hepatic iron concentration, In... ORPHA:53693
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly... OMIM:619013
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Elevated circulating hepatic transaminas... ORPHA:79240
Systemic Primary Carnitine Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration ORPHA:158
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, ... OMIM:255120
Glycogen Storage Disease Iii
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Hypoglycem... OMIM:232400
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Hepatomegaly, Hypercholesterolemia, Increased ... ORPHA:528
Combined Saposin Deficiency
Abnormal glycosphingolipid metabolism, Hepatomegaly, Splenomegaly OMIM:611721
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hypertriglyceridemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly... OMIM:300635
Immunodeficiency 102
Hepatomegaly, Anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, De... OMIM:301082
Peroxisomal Acyl-Coa Oxidase Deficiency
Very long chain fatty acid accumulation, Hepatomegaly, Elevated circulating hepatic transaminase ... OMIM:264470
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia OMIM:616738
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Insulin resistance, Hepatic steatosis, Insulin-resistant diab... ORPHA:79085
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cirrhosis, Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Microvesicular hepatic steat... OMIM:256810
Infantile Liver Failure Syndrome 3
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Cholestasis, Hep... OMIM:618641
Neonatal Lupus Erythematosus
Aplastic anemia, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, P... ORPHA:398124
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Hypersplenism OMIM:610539
Coronary Artery Disease, Autosomal Dominant, 1
Diabetes mellitus, Hypercholesterolemia OMIM:608320
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Hepatomegaly, Insulin resistance, Hepatic stea... ORPHA:363400
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... ORPHA:42
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Elevated... OMIM:619644
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice, Anemia, Reticulocytosis, Methemoglobinemia OMIM:613977
Congenital Bile Acid Synthesis Defect Type 2
Steatorrhea, Jaundice, Elevated circulating hepatic transaminase concentration, Giant cell hepati... ORPHA:79303
Aggressive Systemic Mastocytosis
Decreased liver function, Anemia, Increased proportion of CD25+ mast cells, Pancytopenia, Leukocy... ORPHA:98850
Sandhoff Disease
Abnormal glycosphingolipid metabolism, Hepatomegaly, Splenomegaly ORPHA:796
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Increased circulating ferritin concentration, Elevated circulating ... ORPHA:101330
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,... ORPHA:158048
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Bilia... ORPHA:79301
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle glycogen content, Hepatomegaly, Decreased circulating carnitine concentration, M... ORPHA:254864
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased cir... OMIM:605911
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Elevat... ORPHA:247585
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Hypocalcemia, Lymphoma, Ascites, Splenomegaly ORPHA:100025
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Hepatomegaly, Splenomegaly OMIM:619462
Congenital Macroglossia
Abnormal hepatic glycogen storage, Neurofibroma ORPHA:2430
Familial Hemophagocytic Lymphohistiocytosis
Decreased liver function, Cholestatic liver disease, Hypertriglyceridemia, Jaundice, Anemia, Hemo... ORPHA:540
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Hepatomegaly, Microvesicular hepatic steatosis, Leukocytosis, Reticuloc... OMIM:618278
Fanconi Anemia, Complementation Group G
Anemia, Leukemia, Thrombocytopenia, Myelodysplasia, Neutropenia OMIM:614082
Mitochondrial Myopathy, Infantile, Transient
Increased muscle glycogen content, Hepatomegaly, Decreased circulating carnitine concentration, I... OMIM:500009
Congenital Enterovirus Infection
Anemia, Abnormal macrophage morphology, Cholestasis, Leukocytosis, Hepatic failure, Hyperammonemi... ORPHA:292
Neonatal Alloimmune Neutropenia
Neutropenia in presence of anti-neutropil antibodies, Jaundice, Maternal diabetes ORPHA:464370
Propionic Acidemia
Hyperammonemia, Hypoglycemia, Hepatomegaly ORPHA:35
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Immunodeficiency 47
Normocytic anemia, Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepatomega... OMIM:300972
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole... ORPHA:567983
Leigh Syndrome
Hepatocellular necrosis OMIM:256000
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Pancreatitis, Maternal diabetes, Hyperuricemia, Sp... ORPHA:79083
Wolman Disease
Hepatomegaly, Acute hepatic failure, Splenomegaly OMIM:620151
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elev... OMIM:615381
Peroxisome Biogenesis Disorder 8A (Zellweger)
Elevated circulating aspartate aminotransferase concentration, Jaundice, Hepatomegaly OMIM:614876
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Jaundice, Homocystinuria, Hyperhomocystinemia, Megaloblastic anemia, Hypomethioninemia, Neutropenia OMIM:250940
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly ORPHA:2432
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Insulin r... ORPHA:435660
Galactose Mutarotase Deficiency
Decreased liver function, Hepatomegaly, Cholestasis, Hypergalactosemia ORPHA:570422
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Hepatomegaly, Hyperinsulinemia, Diffuse pancreatic islet hyperplasia, Hypo... ORPHA:276575
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Lymphoma, Splenomegaly, Breast carcinoma, B-cell lymphoma ORPHA:86893
Isolated Polycystic Liver Disease
Increased total bilirubin, Hepatomegaly, Abnormality of the pancreas, Polycystic liver disease ORPHA:2924
Wilson Disease
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Anemia, Hepatomegal... ORPHA:905
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hepatomegaly, Diffuse pancreatic islet hyperplasia, Hypoketotic hypoglycem... ORPHA:276556
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemic seizures, Hyperinsulinemia, Hyperammonemia, Increased C-peptide level, Hypoglycemia,... OMIM:620211
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Hyperalaninemia, Elevated circulating alanine aminotransferase concentration, Eleva... OMIM:614582
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Hepatomegaly, Diffuse pancreatic islet hyperplasia, Hypo... ORPHA:276580
Isolated Growth Hormone Deficiency, Type Ia
Prolonged neonatal jaundice, Hypoglycemia OMIM:262400
Mast Cell Sarcoma
Sarcoma, Hepatomegaly, Splenomegaly, Mastocytosis ORPHA:66661
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Elevated circulating C-react... OMIM:613011
Immunodeficiency 48
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ... OMIM:269840
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubinemia... OMIM:614300
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic transam... OMIM:602347
Hepatic Veno-Occlusive Disease
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Ascites, Increas... ORPHA:890
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Dysbetalipoproteinemia
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Hepatomegaly, Hyperch... ORPHA:412
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hepatomegaly, Anemia, Methylmalonic acidemia, Pancytopenia, Cystathioninuria, Homocystinuria, Meg... OMIM:277380
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-positive T cells, Lymph... ORPHA:169154
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating alanine am... OMIM:614727
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension OMIM:610293
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil ... OMIM:619220
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Neutropenia, B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abscess, Abnormal CD... OMIM:150550
Diffuse Neonatal Hemangiomatosis
Hemangiomatosis, Hepatomegaly, Anemia, Ascites, Thrombocytopenia, Hypercalcemia, Patent ductus ar... ORPHA:2123
Biliary Atresia, Extrahepatic
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Porta... OMIM:210500
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Abnormal T cell count, Transient neutropenia, ... OMIM:607676
Interstitial Lung And Liver Disease
Cirrhosis, Hepatomegaly, Anemia, Intraalveolar phospholipid accumulation, Cholestasis, Elevated c... OMIM:615486
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Hepatic steatosis, Insulin-resistant diabetes m... ORPHA:435651
Vitamin B12-Responsive Methylmalonic Acidemia
Hyperammonemia, Hepatomegaly, Anemia ORPHA:28
Galactosemia I
Decreased liver function, Increased level of galactitol in red blood cells, Cirrhosis, Hepatomega... OMIM:230400
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Hyperlipidemia, Portal hypertension, Biliary tract abnormality... ORPHA:1414
Carnitine-Acylcarnitine Translocase Deficiency
Neonatal hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ele... OMIM:212138
Immunodeficiency By Defective Expression Of Mhc Class Ii
Autoimmune hemolytic anemia, Sclerosing cholangitis, Pancytopenia, Neutropenia in presence of ant... ORPHA:572
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Abno... ORPHA:98907
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis OMIM:618234
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Hepatomegaly OMIM:615924
Immunodeficiency, Common Variable, 1
Hepatomegaly, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Neutropen... OMIM:607594
Glycogen Storage Disease Ib
Xanthelasma, Enlarged kidney, Hepatomegaly, Elevated circulating hepatic transaminase concentrati... OMIM:232220
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating hepatic transaminase concentration, Decreased circulating carnitine concentr... ORPHA:99901
Mitochondrial Pyruvate Carrier Deficiency
Increased serum pyruvate, Hypoglycemia, Hepatomegaly OMIM:614741
Glutathione Synthetase Deficiency
Increased level of L-pyroglutamic acid in urine, Hemolytic anemia, Neutropenia OMIM:266130
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Hyperhomocystinemia, Hypometh... ORPHA:2169
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... OMIM:610021
Immunodeficiency 40
Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating alanine aminotransferase con... OMIM:616433
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Decreased FOXP3-expressing T cell count, Type I diabetes mellitus, Thrombocytopenia, Coom... OMIM:304790
Transcobalamin Ii Deficiency
Hepatomegaly, Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia,... OMIM:275350
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper... OMIM:617068
Chylomicron Retention Disease
Steatorrhea, Elevated circulating hepatic transaminase concentration, Acanthocytosis, Hypocholest... ORPHA:71
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure OMIM:616719
Neutral Lipid Storage Disease With Myopathy
Hypertriglyceridemia, Hepatomegaly, Chronic pancreatitis, Elevated circulating hepatic transamina... OMIM:610717
Shwachman-Diamond Syndrome 1
Steatorrhea, Hepatomegaly, Anemia, Acute myeloid leukemia, Elevated circulating hepatic transamin... OMIM:260400
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant... OMIM:601859
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic transam... OMIM:607765
Harderoporphyria
Hepatomegaly, Reticulocytosis, Prolonged neonatal jaundice, Splenomegaly, Neonatal hyperbilirubin... OMIM:618892
Hemochromatosis, Type 2A
Cirrhosis, Hepatomegaly, Increased circulating iron concentration, Splenomegaly, Increased circul... OMIM:602390
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co... OMIM:615234
Dihydrolipoamide Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... OMIM:246900
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Microcytic anemia, Highly eleva... OMIM:251900
Ataxia-Pancytopenia Syndrome
Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro... OMIM:159550
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Splenomegaly, Hypoglycemia, Aminoaciduria, Hepatic failure ORPHA:664
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Hepatomegaly, Hyperins... ORPHA:79086
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Splenomegaly, Insulin resistance, Diabetes mell... ORPHA:2348
Leishmaniasis
Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Pancytopenia, Abno... ORPHA:507
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Intrahepatic cholestasis, Jaundice, Hypoglycemia, Elevated circulating ... OMIM:617093
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Anemia, Methylmalonic acidemia, Pancytopenia, Hyperammonemia, Thrombocytopenia, Hyp... OMIM:251100
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Myelodysplasia, Neutropenia OMIM:610738
Refractory Anemia
Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Single lineage m... ORPHA:98826
Macrocephaly-Intellectual Disability-Autism Syndrome
Thyroid carcinoma, Intestinal polyposis, Multiple lipomas, Hepatic steatosis, Hurthle cell thyroi... ORPHA:210548
Liver Failure, Infantile, Transient
Jaundice, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steatos... OMIM:613070
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Hepatitis, Fulminant Viral, Susceptibility To
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Fulminant hepati... OMIM:618549
3-Methylglutaconic Aciduria Type 7
Infection associated neutropenia, Neonatal hypoglycemia, Elevated circulating hepatic transaminas... ORPHA:445038
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Thrombocytopenia, Splenomegaly, Hemolytic anemia OMIM:615010
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Mulibrey Nanism
Hepatomegaly ORPHA:2576
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly OMIM:618852
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia, Hepatomegaly, Acute pancreatitis, Hyperglycemia, Insulin-resistant diabetes... OMIM:608600
Pyruvate Carboxylase Deficiency
Increased serum pyruvate, Hypoglycemia, Hepatomegaly, Hyperalaninemia OMIM:266150
Bile Acid Conjugation Defect 1
Jaundice, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Conjugated h... OMIM:619232
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Anemia, Elevated circulating hepatic transaminase... ORPHA:64743
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Splenomegaly, Abnormal B cell count ORPHA:100024
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ... OMIM:619463
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Hepatomegaly, Hy... OMIM:151660
Familial Chylomicronemia Syndrome
Hypertriglyceridemia, Perianal abscess, Jaundice, Increased circulating chylomicron concentration... ORPHA:444490
X-Linked Agammaglobulinemia
Anemia, Hypocalcemia, Thrombocytopenia, Neoplasm, Recurrent cutaneous abscess formation, Hepatiti... ORPHA:47
Immunodeficiency 114, Folate-Responsive
Hypertriglyceridemia, Hepatomegaly, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphop... OMIM:620603
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Hepatomegaly, Choleli... OMIM:266200
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Lysinuric Protein Intolerance
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Argininuria, Elevated circulating ... ORPHA:470
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... OMIM:619849
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hepatomegaly, Generalized aminoaciduria, Increased hepatic glycogen content... ORPHA:2088
Glycogen Storage Disease Ic
Xanthelasma, Hepatomegaly, Chronic pancreatitis, Hyperuricemia, Hepatocellular carcinoma, Hyperli... OMIM:232240
Hyperlipoproteinemia, Type I
Lactescent serum, Jaundice, Increased circulating chylomicron concentration, Acute pancreatitis, ... OMIM:238600
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic... OMIM:601847
Nephronophthisis 19
Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ... OMIM:616217
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Xanthelasma, Cirrhosis, Jaundice, Hepatomegaly, Hyperch... ORPHA:186
Seckel Syndrome 10
Hypertriglyceridemia, Acute pancreatitis, Impaired glucose tolerance, Elevated circulating alanin... OMIM:617253
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Letterer-Siwe Disease
Jaundice, Anemia, Thrombocytopenia, Hepatosplenomegaly, Neutropenia OMIM:246400
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Monocytosis, Lymphoma, Leukopenia, Refractory anemia, Myelodysplasia OMIM:616871
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Fas... ORPHA:348
Pearson Marrow-Pancreas Syndrome
Steatorrhea, Hepatomegaly, Refractory sideroblastic anemia, Anemia, Elevated circulating hepatic ... OMIM:557000
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Pancreatitis, Increased serum bile acid concentration, Intrahepatic cholestasis wit... OMIM:243300
Felty Syndrome
Hepatomegaly, Anemia, Abnormal lymphocyte morphology, Lymphoma, Thrombocytopenia, Splenomegaly, N... ORPHA:47612
Cog7-Cdg
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Elevated circula... ORPHA:79333
Shwachman-Diamond Syndrome
Aplastic anemia, Steatorrhea, Elevated circulating hepatic transaminase concentration, Macrocytic... ORPHA:811
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Hepatomegaly, Anemia, Macrovesicular hepatic steatosis, Thrombocytopenia, Leukop... OMIM:617303
Dubin-Johnson Syndrome
Jaundice, Hepatomegaly, Biliary tract abnormality, Conjugated hyperbilirubinemia, Abnormality of ... ORPHA:234
Dyskeratosis Congenita, Autosomal Dominant 2
Aplastic anemia, Pancytopenia, Thrombocytopenia, Leukopenia, Hepatic fibrosis, Neutropenia OMIM:613989
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Thrombocytopenia, Splenomegal... OMIM:308230
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancytopenia, Thrombocytop... OMIM:610333
Bare Lymphocyte Syndrome, Type Ii
Biliary tract abnormality, Cholangitis, Viral hepatitis, Neutropenia OMIM:209920
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Elevated circulating hepatic transaminase concentration, Anemia, Elevated circulat... ORPHA:54251
Disabling Pansclerotic Morphea Of Childhood
Squamous cell carcinoma of the skin, Neutropenia, Elevated circulating C-reactive protein concent... OMIM:620443
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hypertyrosinemia, M... OMIM:617156
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Pancreatitis, Anemia, Macrocytic anemia, Hyperammonemia, Thrombocytopenia, Leukopenia ORPHA:27
Sitosterolemia 1
Xanthelasma, Chronic hemolytic anemia, Giant platelets, Anemia, Reduced haptoglobin level, Elevat... OMIM:210250
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Immunodeficiency 53
Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin OMIM:617585
Chediak-Higashi Syndrome
Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Leukopenia, Splenomegaly, Impaired neutrophil b... OMIM:214500
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Thrombocytopenia, Leukopenia, Neutropenia OMIM:229050
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated circulating hepatic transaminase concentration, Microvesicular hepatic steatosis, Thromb... OMIM:611126
Lymphoproliferative Syndrome 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Lymphoma, Ascites, Hodgkin lymphom... OMIM:615122
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated circulating hepatic transaminase concentration, Cholestasis, Hepatosplenomegaly, Decreas... ORPHA:541423
Babesiosis
Jaundice, Hepatomegaly, Thrombocytopenia, Leukopenia, Splenomegaly, Hemolytic anemia, Hepatic fai... ORPHA:108
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased circu... OMIM:235200
Bardet-Biedl Syndrome 19
Hepatic steatosis, Patent ductus arteriosus OMIM:615996
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Steatorrhea, Acholic stools, Hyperbi... OMIM:613812
Bile Acid Synthesis Defect, Congenital, 2
Steatorrhea, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concen... OMIM:235555
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,... OMIM:620565
Mitochondrial Complex I Deficiency, Nuclear Type 3
Hepatomegaly OMIM:618224
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Jaundice, Anemia, Hemophagocytosis... OMIM:267700
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Pyruvate Dehydrogenase E3 Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased circulating carn... ORPHA:2394
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis OMIM:275630
Autosomal Agammaglobulinemia
Verrucae, Hepatitis, Neutropenia ORPHA:33110
Congenital Toxoplasmosis
Jaundice, Elevated circulating hepatic transaminase concentration, Anemia, Hepatomegaly, Ascites,... ORPHA:858
Agammaglobulinemia 10, Autosomal Dominant
Type I diabetes mellitus, Transient neutropenia, Absent circulating B cells OMIM:619707
Coproporphyria, Hereditary
Jaundice, Splenomegaly, Hepatomegaly OMIM:121300
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Leber Congenital Amaurosis 1
Hepatomegaly, Hyperthreoninemia, Hyperthreoninuria OMIM:204000
Beta-Thalassemia
Hepatomegaly, Anemia, Abnormality of iron homeostasis, Cholelithiasis, Thrombocytopenia, Splenome... ORPHA:848
Peroxisome Biogenesis Disorder 6A (Zellweger)
Decreased liver function, Hepatomegaly OMIM:614870
Infantile Sialic Acid Storage Disease
Hepatomegaly, Vacuolated lymphocytes, Ascites, Splenomegaly, Conjugated hyperbilirubinemia, Cardi... OMIM:269920
Wolfram Syndrome, Mitochondrial Form
Megaloblastic anemia, Sideroblastic anemia, Thrombocytopenia, Diabetes mellitus, Neutropenia OMIM:598500
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
Classic Mycosis Fungoides
Hepatomegaly, Neoplasm of the skin, Abnormal lymphocyte morphology, Lymphoma, Splenomegaly, Cutan... ORPHA:2584
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating hepatic tra... OMIM:608836
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Hypoglycemic seizures, Hepatocellular adenoma, Hepatomegaly, Anemia, Pancre... ORPHA:79259
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hepatomegaly, Hyperechogenic pancreas, Steatorrhea, Thrombocytopenia, Exocrine... OMIM:617941
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Splenomegaly ORPHA:2204
Methylmalonic Acidemia With Homocystinuria Type Cblf
Hyperhomocystinemia, Megaloblastic anemia, Elevated circulating palmitoleylcarnitine concentratio... ORPHA:79284
Schnitzler Syndrome
Hepatomegaly, Anemia, Leukocytosis, Lymphoma, Splenomegaly ORPHA:37748
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Leukopenia, Splenomegaly, Lymphopenia OMIM:620210
Beta-Thalassemia Intermedia
Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Abnormality of iron homeostasis, Cho... ORPHA:231222
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Abnormal T cell count, Abnormal B cell count, Autoimmune thrombocy... OMIM:613496
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Decreased liver function, Elevated circulating hepatic transaminase concentration, Elevated circu... OMIM:615160
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal circulating C-peptide concentration, Hypoglycemia, Recurr... ORPHA:263458
Hypermanganesemia With Dystonia 1
Decreased liver function, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc... OMIM:613280
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatomegaly, ... OMIM:614921
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cholestatic liver disease, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Anemia, Neonatal hypogl... OMIM:619418
Transcobalamin Deficiency
Neutropenia, Lymphopenia, Thrombocytopenia, Pancytopenia ORPHA:859
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal tubular epithelial necrosis, Hepatomegaly, Hypoketotic hypoglycemia, Hyperlipidemia, Elevat... ORPHA:228308
Agammaglobulinemia 7, Autosomal Recessive
Abnormal T cell morphology, Reduced natural killer cell count, Neutropenia OMIM:615214
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Splenomegaly OMIM:608540
Indolent Systemic Mastocytosis
Hepatomegaly, Increased proportion of CD25+ mast cells, Mastocytosis, Splenomegaly, Abnormal mast... ORPHA:98848
Dpm1-Cdg
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating creat... ORPHA:79322
3-Methylglutaconic Aciduria, Type Viib
Neonatal hypoglycemia, Thrombocytopenia, Leukopenia, Hepatic steatosis, Neutropenia OMIM:616271
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,... OMIM:615559
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Acute myeloid leukemia, Hemangioma, Acute lymphoblastic leukemia, Myelodysplasia... ORPHA:486
Wolman Disease
Steatorrhea, Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly, Hepatic failure ORPHA:75233
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Hepatomegaly, Abnormal neutrophil count, Myeloproliferative disorder, Leukocytosi... ORPHA:3226
Autoimmune Hepatitis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Sclerosing cholangi... ORPHA:2137
Amyloidosis, Familial Visceral
Hepatomegaly, Cholestasis, Splenomegaly OMIM:105200
Whim Syndrome 1
Verrucae, Neutropenia OMIM:193670
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole... OMIM:617394
Lysosomal Acid Lipase Deficiency
Decreased liver function, Hypertriglyceridemia, Hyperkalemia, Jaundice, Anemia, Elevated circulat... ORPHA:275761
Acute Liver Failure
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatic periportal necrosis, H... ORPHA:90062
Relapsing Fever
Jaundice, Anemia, Elevated circulating hepatic transaminase concentration, Elevated circulating C... ORPHA:91547
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Refractory anemia with ringed siderobl... OMIM:619523
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:615085
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Splenomegaly, Neutropenia OMIM:617050
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of class-switched memory B cells, Hodgkin lymphoma, Coombs-pos... OMIM:619375
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Necrotizing Enterocolitis
Abnormal glucose homeostasis, Ascites, Leukocytosis, Hyponatremia, Thrombocytopenia, Hyperglycemi... ORPHA:391673
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia OMIM:617056
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Patent d... OMIM:616000
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Neutropenia, Absent circulating B cells OMIM:613501
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Normochromic anemia, Homocystinuria, Hyperhomocystinemia, Elevated circul... OMIM:614857
Acute Generalized Exanthematous Pustulosis
Elevated circulating hepatic transaminase concentration, Cholestasis, Leukocytosis, Neutrophilia,... ORPHA:293173
Cardiomyopathy, Familial Restrictive, 6
Hepatic artery hyperplasia, Hepatomegaly, Portal vein hypoplasia, Ascites OMIM:619433
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant... OMIM:603909
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly, Hepatomegaly ORPHA:158029
Mpi-Cdg
Decreased liver function, Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hyperinsulinemic hy... ORPHA:79319
Ddost-Cdg
Hepatic steatosis, Elevated circulating hepatic transaminase concentration ORPHA:300536
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Fish-Eye Disease
Decreased HDL cholesterol concentration, Hepatomegaly, Splenomegaly ORPHA:79292
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Transient hyperlipidemia, ... ORPHA:156
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Decreased liver function, Hepatic steatosis ORPHA:70472
Gaucher Disease, Type Iii
Hepatomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia OMIM:231000
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Hepatomegaly, Ascites ORPHA:2198
Sepsis In Premature Infants
Decreased liver function, Jaundice, Anemia, Hepatomegaly, Elevated circulating C-reactive protein... ORPHA:90051
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Hodgkin lympho... OMIM:615952
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Macrovesicular hepatic steatosis, Microvesicular hepatic steatosis, Elevated circul... OMIM:615595
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hype... OMIM:613327
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... OMIM:194380
Myelofibrosis
Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop... OMIM:254450
Solitary Fibrous Tumor
Pelvic mass, Hypophosphatemic rickets, Abnormal peritoneum morphology, Genital neoplasm, Neoplasm... ORPHA:2126
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia OMIM:616949
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Neonatal hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyp... ORPHA:263455
Desmoplastic Small Round Cell Tumor
Neoplasm of the central nervous system, Hepatomegaly, Anemia, Neoplasm of the pancreas, Ovarian n... ORPHA:83469
Severe Combined Immunodeficiency, X-Linked
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the thymu... OMIM:300400
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Hypoglycemia, Acute hyperammonemia OMIM:210200
Evans Syndrome
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... ORPHA:1959
3-Methylglutaconic Aciduria Type 4
Decreased liver function, Hypoglycemia, Thrombocytopenia ORPHA:67048
Cholestasis, Progressive Familial Intrahepatic, 5
Cirrhosis, Jaundice, Ascites, Elevated circulating alanine aminotransferase concentration, Hypera... OMIM:617049
3-Methylglutaconic Aciduria, Type V
Normochromic microcytic anemia, Microvesicular hepatic steatosis, Elevated circulating alanine am... OMIM:610198
Cholestasis, Benign Recurrent Intrahepatic, 2
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Cholelithiasis, Conjugated hyperbilirubinemia OMIM:605479
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Steatorrhea, Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insuffi... OMIM:612714
Fetal Cytomegalovirus Syndrome
Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Thromboc... ORPHA:294
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Hepatomegaly, Elevated circulating creatine kinase concentration OMIM:615704
Maternal Uniparental Disomy Of Chromosome 1
Type I diabetes mellitus, Hepatomegaly, Pancytopenia ORPHA:251009
Immunodeficiency 54
Lymphoproliferative disorder, Reduced natural killer cell count, Splenomegaly, Hepatomegaly OMIM:609981
Combined Oxidative Phosphorylation Deficiency 1
Fulminant hepatic failure, Hepatomegaly, Cholestasis OMIM:609060
3-Hydroxy-3-Methylglutaric Aciduria
Jaundice, Anemia, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hyperuri... ORPHA:20
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Decreased CD4:CD8 ratio, Splenomegaly OMIM:618495
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly ORPHA:59303
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Elevated circulating alpha-fetoprotein c... OMIM:620481
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Elevated circulating hepatic transaminase concentration, Anemia, Macrovesicular hepati... ORPHA:298
Immunodeficiency 46
Anemia, Intermittent thrombocytopenia, Neutropenia OMIM:616740
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Extramedullary hematopoiesis OMIM:612840
Griscelli Syndrome
Abnormal circulating lipid concentration, Jaundice, Hepatomegaly, Ascites, Thrombocytopenia, Leuk... ORPHA:381
Autoinflammatory Disease, Systemic, X-Linked
B lymphocytopenia, Hepatosplenomegaly, Neutropenia OMIM:301081
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Hepatomegaly, Anemia, Erythroid hypoplasia, Patent ductus arteriosus, Hypoplasi... OMIM:612541
Tangier Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased circulatin... OMIM:205400
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Hepatomegaly, Chronic pancreatitis, Elevated circulating hepatic transamina... ORPHA:98908
Pearson Syndrome
Steatorrhea, Elevated circulating hepatic transaminase concentration, Reticulocytosis, Splenomega... ORPHA:699
Immunodeficiency, Common Variable, 2
Hepatomegaly, Lymphoma, Abnormal T cell count, Splenomegaly, Neoplasm OMIM:240500
Primary Myelofibrosis
Hepatomegaly, Anemia, Pancytopenia, Extramedullary hematopoiesis, Leukocytosis, Portal hypertensi... ORPHA:824
Specific Granule Deficiency 2
Anemia, Thrombocytopenia, Absent neutrophil specific granules, Myelodysplasia, Neutropenia OMIM:617475
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperalaninemia, Cardiomeg... OMIM:619064
Osteootohepatoenteric Syndrome
Portal fibrosis, Anemia, Increased serum bile acid concentration, Hypokalemia, Microvesicular hep... OMIM:619377
Aspergillosis
Eosinophilia, Hematological neoplasm, Hepatitis, Neutropenia ORPHA:1163
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Enlarged platelet... OMIM:608233
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Hepatomegaly, Anemia, Cholestasis, Ascites, Thrombocytopenia, Patent du... OMIM:608104
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Jaundice, Hepatomegaly, Hepatocellular carcinoma, Cholestasis, Reduced circulating alp... ORPHA:60
Bile Acid Malabsorption, Primary, 2
Steatorrhea, Decreased circulating chenodeoxycholic acid concentration, Periportal fibrosis, Elev... OMIM:619481
Gaisböck Syndrome
Hypertriglyceridemia, Increased red blood cell count, Elevated plasma cell count, Increased mean ... ORPHA:90041
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Neutropenia OMIM:613502
Peroxisome Biogenesis Disorder 3A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Hepatomegaly OMIM:614859
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Hepatomegaly, Elevated circulating C-reactive prote... OMIM:614034
Pfapa Syndrome
Hepatomegaly, Splenomegaly ORPHA:42642
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, P... OMIM:185000
Congenital Disorder Of Glycosylation, Type Iij
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, H... OMIM:613489
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hepatic steatosis, Elevated circulating creatine kinase concentration ORPHA:52430
Caroli Disease
Cirrhosis, Liver abscess, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepato... ORPHA:53035
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Decreased liver function, Hepatomegaly, Anemia, Glycosuria, Aminoaciduria, Diffuse hepatic steatosis ORPHA:436271
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Acute pancreatitis... OMIM:619487
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly OMIM:618107
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Jaundice, Anemia, Hemophagocytosis, Elevated circulating hepatic transamina... OMIM:603553
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Sideroblastic anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration OMIM:613561
Gaucher Disease Type 1
Cirrhosis, Hepatomegaly, Anemia, Decreased HDL cholesterol concentration, Cholelithiasis, Pancyto... ORPHA:77259
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Pancreatitis, Homocystinuria, Hyperhomocystinemia, Methioninuria, Hepatic steatosis, Hypermethion... OMIM:236200
Kasabach-Merritt Phenomenon
Hepatic hemangioma, Anemia, Capillary hemangioma, Neoplasm of the skin, Tufted angioma, Reticuloc... ORPHA:2330
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hyperammonemia, Hypoglycemia, Neutropenia OMIM:618253
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypouricemia, Glycosuria, ... OMIM:616026
Congenital Rubella Syndrome
Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Patent ductus arteriosus, Type I ... ORPHA:290
Dengue Fever
Hepatomegaly, Hypoproteinemia, Ascites, Thrombocytopenia, Leukopenia ORPHA:99828
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Elevated circulating hepatic transaminase concentration, Iron defici... ORPHA:37042
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Hepatomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:436159
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Chédiak-Higashi Syndrome
Decreased liver function, Hypertriglyceridemia, Jaundice, Anemia, Hemophagocytosis, Increased pro... ORPHA:167
Intellectual Developmental Disorder, Autosomal Recessive 41
Hepatomegaly, Splenomegaly OMIM:615637
Abetalipoproteinemia
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Decreas... ORPHA:14
Immunodeficiency, Common Variable, 8, With Autoimmunity
Autoimmune hemolytic anemia, Pancytopenia, Decreased proportion of class-switched memory B cells,... OMIM:614700
Fructose Intolerance, Hereditary
Bicarbonaturia, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hep... OMIM:229600
Farber Lipogranulomatosis
Lipogranulomatosis, Hepatomegaly, Splenomegaly OMIM:228000
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hepatomegaly, Steatorrhea, Hypoalbuminemia, Hyperinsulinemic hypoglycemia, Hepatic fib... OMIM:602579
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatic cysts, Hepatomegaly OMIM:617004
Schimke Immuno-Osseous Dysplasia
Anemia, Pancreatitis, Abnormal proportion of naive CD4 T cells, Hyperlipidemia, Decreased proport... ORPHA:1830
Mody
Hepatocellular adenoma, Neonatal hypoglycemia, Abnormal circulating C-peptide concentration, Panc... ORPHA:552
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Hyperbilirubinemia, Macrocytic dyserythropoietic anemia, Anemia of inadequate produ... OMIM:224120
Fusariosis
Lung abscess, Brain abscess, Granuloma, Hematological neoplasm, Abnormality of the spleen, Perito... ORPHA:228119
Omenn Syndrome
Hepatomegaly, Anemia, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thymus, Severe B lymp... OMIM:603554
Combined Oxidative Phosphorylation Deficiency 47
Hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration OMIM:618958
Activated Pi3K-Delta Syndrome
Lymphoma, B lymphocytopenia, Hepatomegaly, Splenomegaly ORPHA:397596
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cirrhosis, Cholangitis, Pancytopenia, Neutropenia in presence of anti-neutropil antibodies, Porta... ORPHA:228426
Adrenomyodystrophy
Hepatic steatosis ORPHA:977
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Cholestasis, Impaired glucose tolerance, Splenomegaly, Hepatic fibrosis, Glucose in... OMIM:615630
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Hepatomegaly, Reduced haptoglobin level, Hyperbilirubinemia, Anemia o... OMIM:613673
Wilson Disease
Portal fibrosis, Ascites, Acute hepatic failure, Splenomegaly, High nonceruloplasmin-bound serum ... OMIM:277900
Peroxisome Biogenesis Disorder 7A (Zellweger)
Elevated circulating hexacosanoic acid concentration, Elevated circulating tetracosanoic acid con... OMIM:614872
Caroli Syndrome
Cirrhosis, Liver abscess, Elevated circulating hepatic transaminase concentration, Jaundice, Intr... ORPHA:480520
Hyperlipoproteinemia, Type Id
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Increa... OMIM:615947
Immunodeficiency 87 And Autoimmunity
Autoimmune hemolytic anemia, Hypertriglyceridemia, Hepatic steatosis, Jaundice, Hepatomegaly, Hyp... OMIM:619573
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hyperinsulinemia, Hepatomegaly, Hyperlipidemia, Impaired glucose tolerance, Hyperglyc... OMIM:248370
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Decreased liver function, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc... ORPHA:367
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia OMIM:606843
Cyclic Neutropenia
Perianal abscess, Lymphopenia, Tooth abscess, Thrombocytopenia, Peritonitis, Decreased eosinophil... ORPHA:2686
Retinitis Pigmentosa 59
Hepatomegaly, Elevated circulating hepatic transaminase concentration OMIM:613861
Argininemia
Hepatomegaly, Portal fibrosis, Reduced erythrocyte arginase activity, Cholestasis, Hyperargininem... OMIM:207800
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Squamous cell carcinoma of the tongue, Persistence of ... OMIM:618849
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hepatomegaly, Methylmalonic acidemia, Homocystinuria, Cystathioninuria, Hyperhomocystinemia, Mega... OMIM:277400
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Anemia, Reduced haptoglobin level, Schistocytosis, Leukopenia, Thrombocytopenia, Lymphopenia, Ele... OMIM:301110
Tafro Syndrome
Hepatomegaly, Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Ascite... ORPHA:457077
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly OMIM:611490
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Abnormal circulating lipid concentration, Peritonitis, Hypoalbuminemia, Hyp... ORPHA:567548
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis OMIM:619281
Poikiloderma With Neutropenia
Elevated circulating creatine kinase concentration, Leukopenia, Splenomegaly, Neutropenia OMIM:604173
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Hypercholesterolemia ORPHA:254531
Dilated Cardiomyopathy With Ataxia
Neonatal hypoglycemia, Elevated circulating hepatic transaminase concentration, Hypochromic micro... ORPHA:66634
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Ascites, Elevated circulating alani... OMIM:257200
Combined Oxidative Phosphorylation Deficiency 37
Decreased liver function, Elevated circulating hepatic transaminase concentration, Macrovesicular... OMIM:618329
Budd-Chiari Syndrome
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Ascit... ORPHA:131
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia ORPHA:494444
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Gia... OMIM:613404
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l... ORPHA:98849
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Elevated circulating hepatic transaminase concentration, T lymphocytope... ORPHA:2959
Myopathy With Extrapyramidal Signs
Hypervalinemia, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Leukocytos... OMIM:615673
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Jaundice, Hepatomegaly, Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Th... OMIM:613839
Bile Acid Synthesis Defect, Congenital, 4
Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... OMIM:214950
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Hepatomegaly, Elevated circulating phytanic acid concentration, Very long chain fatt... OMIM:266510
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
Fanconi Anemia, Complementation Group V
Thrombocytopenia, Anemia, Elevated circulating alpha-fetoprotein concentration, Neutropenia OMIM:617243
Glycogen Storage Disease Xii
Normocytic anemia, Jaundice, Anemia, Decreased erythrocyte fructose-1,6-bisphosphate aldolase act... OMIM:611881
Mcleod Syndrome
Hepatomegaly, Reduced haptoglobin level, Elevated circulating creatine kinase concentration, Elev... OMIM:300842
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia ORPHA:2643
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Thrombocytopenia, Aminoaciduria, Neutropenia OMIM:603585
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr... OMIM:608594
Sialidosis Type 2
Ascites, Hepatomegaly, Splenomegaly ORPHA:87876
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Neoplasm of the tongue, Abnormal lymphocyte mo... ORPHA:100026
Acth Deficiency, Isolated
Jaundice, Cholestasis, Fasting hypoglycemia, Decreased circulating cortisol level OMIM:201400
Immunodeficiency 92
Hepatomegaly, Cholangitis, Sclerosing cholangitis, Decreased proportion of class-switched memory ... OMIM:619652
B4Galt1-Cdg
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating creat... ORPHA:79332
Hurler-Scheie Syndrome
Hepatomegaly, Splenomegaly ORPHA:93476
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Macrovesicular hepatic steatosis, Cholestasis, Elevated circulating alanine aminotr... OMIM:614924
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Anemia, Splenomegaly OMIM:620296
Transaldolase Deficiency
Decreased liver function, Cirrhosis, Hepatomegaly, Anemia, Patent ductus arteriosus, Pancytopenia... OMIM:606003
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased liver function, Hepatomegaly, Hyperornithinemia, Acute hepatitis, Hyperammonemia, Homoc... OMIM:238970
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Spleno... ORPHA:280365
Sézary Syndrome
Hepatomegaly, Neoplasm of the skin, Abnormal lymphocyte morphology, Lymphoma, Splenomegaly, Cutan... ORPHA:3162
Psoriasis 14, Pustular
Cholangitis, Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:614204
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr... OMIM:269700
Classic Hodgkin Lymphoma
Lymphoma, Hepatomegaly, Splenomegaly, Neoplasm ORPHA:391
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Ascites, Splenomegaly, Cardiomegaly OMIM:256550
Cinca Syndrome
Hepatomegaly, Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Abnorm... ORPHA:1451
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Renal cell carcinoma, Hyperlipidemia, Pituitary adenoma, Meningioma, Hyperaldosteronism, Paradoxi... ORPHA:189427
Laron Syndrome
Hypoglycemia, Hypercholesterolemia ORPHA:633
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Verrucae, Hodgkin lymphoma, Lymphopenia, Lymphoproliferative disorde... OMIM:614868
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Decreased liver function, Hepatomegaly, Anemia, Increased hepatocellular lipid droplets, Glycosur... OMIM:220110
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Focal pancreatic islet hyperplasia, ... ORPHA:79644
Cystic Echinococcosis
Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Abn... ORPHA:400
Gm1-Gangliosidosis, Type Iii
Hepatomegaly, Splenomegaly OMIM:230650
Congenital Disorder Of Glycosylation, Type Ia
Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypocholester... OMIM:212065
Combined Oxidative Phosphorylation Deficiency 40
Decreased liver function, Anemia, Elevated circulating creatine kinase concentration, Decreased c... OMIM:618835
Immunodeficiency 10
Autoimmune hemolytic anemia, Hepatomegaly, Kaposi's sarcoma, Hypoglycemia, Abnormal lymphocyte co... OMIM:612783
Combined Oxidative Phosphorylation Deficiency 11
Decreased liver function, Hepatomegaly, Hepatic steatosis OMIM:614922
Combined Oxidative Phosphorylation Deficiency 42
Decreased liver function, Anemia, Elevated circulating creatine kinase concentration, Decreased c... OMIM:618839
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cholestatic liver disease, Hypoglycemia, Hepatomegaly, Hypoketotic hypoglycemia ORPHA:5
Cold Agglutinin Disease
Hepatomegaly, Splenomegaly, Hemolytic anemia ORPHA:56425
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Fasting hypoglycemia, Hypo... ORPHA:159
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio... ORPHA:331206
Bone Marrow Failure Syndrome 3
Aplastic anemia, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia, Pancytopenia, Increased... OMIM:617052
Combined Oxidative Phosphorylation Deficiency 14
Anemia, Increased hepatic glycogen content, Elevated hepatic iron concentration, Copper accumulat... OMIM:614946
Pelger-Huet Anomaly
Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Abnormality of neutroph... OMIM:169400
Congenital Pulmonary Lymphangiectasia
Ascites, Hepatomegaly, Splenomegaly ORPHA:2414
Developmental And Epileptic Encephalopathy 66
Anemia, Neutropenia OMIM:618067
Temple Syndrome
Hypertriglyceridemia, Maturity-onset diabetes of the young, Hypercholesterolemia OMIM:616222
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Jaundice, Hepatomegaly, Hypokalemia, Elevated circulating alpha-fetoprotein concentration, Hepati... OMIM:613095
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly ORPHA:85212
Adult-Onset Still Disease
Abnormal circulating lipid concentration, Hepatomegaly, Anemia, Elevated circulating hepatic tran... ORPHA:829
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count OMIM:615592
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Hyperammonemia, Elevated circulating hepatic transaminase concentration, Hyperalaninemia, Neutrop... OMIM:615471
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Splenomegaly, Elevated circulating C-reactive protein concentration ORPHA:85414
Pleural Mesothelioma
Hepatomegaly ORPHA:50251
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Elevated circulating C-reactive protein concentration, Neutrophilia, Splenomegaly, ... OMIM:612852
Symptomatic Form Of Hfe-Related Hemochromatosis
Cirrhosis, Hepatomegaly, Abnormality of iron homeostasis, Increased circulating ferritin concentr... ORPHA:465508
Alstrom Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Elevated circulating... OMIM:203800
Specific Granule Deficiency 1
Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bactericida... OMIM:245480
Infantile Liver Failure Syndrome 2
Jaundice, Elevated circulating hepatic transaminase concentration, Hyperammonemia, Acute hepatic ... OMIM:616483
Meckel Syndrome, Type 3
Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate, Bile duct proliferation OMIM:607361
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Hyperglycemia, Leukocytosis, Left ventricular hypertrophy ORPHA:90065
Lig4 Syndrome
Acute leukemia, Hepatomegaly, Pancytopenia, Leukocytosis, Lymphoma, Type II diabetes mellitus ORPHA:99812
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hypotriglyceridemia, Biliary cirrhosis, Hodgkin lymphom... ORPHA:2298
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis, Hepatomegaly, Aminoaciduria OMIM:604273
Bloom Syndrome
Squamous cell carcinoma, Lymphoma, Elevated hemoglobin A1c, Type II diabetes mellitus, Hepatic st... OMIM:210900
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Jaundice, Hepatomegaly, Decreased proportion of CD3-positive T cells, Decreased proportion of nai... ORPHA:276
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spleen, Abnormality ... ORPHA:79456
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Basal cell carcinoma, Squamous cell carcinoma of the skin, Pulmonary carcin... ORPHA:363618
Cronkhite-Canada Syndrome
Hepatomegaly, Intestinal polyposis, Anemia, Stomach cancer, Hamartomatous polyposis, Colon cancer... ORPHA:2930
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,... OMIM:617388
D-Bifunctional Protein Deficiency
Increased circulating very long-chain fatty acid concentration, Hepatomegaly, Elevated circulatin... OMIM:261515
Hyperzincemia With Functional Zinc Depletion
Hepatomegaly, Increased serum zinc OMIM:601979
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Steatorrhea, Hepatomegaly, Diabetes mellitus, Exocrine pancreatic insufficiency, Hepatic fibrosis... OMIM:616263
Mitochondrial Trifunctional Protein Deficiency
Hypoketotic hypoglycemia, Hypocalcemia, Chronic hepatic failure, Cholestasis, Left ventricular hy... ORPHA:746
Omenn Syndrome
Hepatomegaly, Anemia, Abnormal lymphocyte morphology, Leukocytosis, Lymphoma, Splenomegaly, Eosin... ORPHA:39041
Trichothiodystrophy 3, Photosensitive
Neoplasm of the skin, Neutropenia, Abdominal adhesions, Lymphopenia OMIM:616395
Isolated Biliary Atresia
Decreased liver function, Xanthelasma, Cirrhosis, Jaundice, Elevated circulating hepatic transami... ORPHA:30391
Hereditary Spherocytosis
Jaundice, Anemia, Hepatomegaly, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp... ORPHA:822
Combined Oxidative Phosphorylation Deficiency 53
Hepatomegaly, Hypochromic microcytic anemia, Elevated circulating C-reactive protein concentration OMIM:619423
Monosomy 13Q34
Hypercalcemia, Insulin resistance, Hepatic steatosis ORPHA:96168
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Decreased liver function, Elevated circulating hepatic transaminase concentration, Cholangitis, P... OMIM:124000
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Anemia, Iron deficiency anemia, Hypoproteinemia, Ascites, Hypoalbuminemia, Thromboc... OMIM:226300
Liver Disease, Severe Congenital
Elevated circulating hepatic transaminase concentration, Lymphocytosis, Hypoproteinemia, Ascites,... OMIM:619991
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Prolonged neonatal jaundice, Hyponatremia, Decrease... ORPHA:199296
Slc35A1-Cdg
Thrombocytopenia, Giant platelets, Abnormal platelet granules, Neutropenia ORPHA:238459
Congenital Disorder Of Glycosylation, Type Iil
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancytopenia, C... OMIM:614576
Classic Galactosemia
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Jaundice, Abnormal erythro... ORPHA:79239
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Hypouricemia, Neutropenia in presence of anti-neutropil antibodies, ... OMIM:613179
Trichohepatoenteric Syndrome 2
Chronic hepatitis, Cirrhosis, Hepatomegaly, Decreased circulating iron concentration OMIM:614602
Tyrosinemia, Type I
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Enlarge... OMIM:276700
Sickle Cell Disease
Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells, Splenomeg... OMIM:603903
Aredyld Syndrome
Hepatomegaly, Refractory anemia with ringed sideroblasts, Splenomegaly, Type II diabetes mellitus... ORPHA:1133
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis, Hyperammonemia OMIM:616672
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anem... OMIM:617591
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Increased total ... ORPHA:309854
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Elevated circulating ... OMIM:615558
Rajab Interstitial Lung Disease With Brain Calcifications 1
Decreased liver function, Cirrhosis, Elevated circulating hepatic transaminase concentration, Ane... OMIM:613658
19P13.12 Microdeletion Syndrome
Hyperlipidemia, Hepatic steatosis ORPHA:254346
Pgm3-Cdg
Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie... ORPHA:443811
Infantile Refsum Disease
Elevated circulating phytanic acid concentration, Very long chain fatty acid accumulation, Hepato... ORPHA:772
Free Sialic Acid Storage Disease
Ascites, Hepatomegaly, Splenomegaly ORPHA:834
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Neoplasm of the tongue, Neoplasm of the skin, Reticulocytosis, Hodgkin lymphoma, S... ORPHA:3261
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal... OMIM:607626
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Hypercholesterolemia, Hyperuricemia ORPHA:77296
Cirrhotic Cardiomyopathy
Abnormal circulating B-type natriuretic peptide concentration, Cirrhosis, Jaundice, Hepatomegaly,... ORPHA:57777
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
B lymphocytopenia, Decreased proportion of class-switched memory B cells, Absent circulating B ce... OMIM:619705
Carnitine Palmitoyltransferase Ii Deficiency
Renal tubular epithelial necrosis, Hepatomegaly, Hypoketotic hypoglycemia, Hyperlipidemia, Elevat... ORPHA:157
Niemann-Pick Disease, Type C1
Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundice, Spleno... OMIM:257220
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Hepatomegaly, Hyperalaninemia, Hyperammonemia, Acute hyperammonemia, Hyperglutaminemia, Myelodysp... ORPHA:927
Mandibuloacral Dysplasia
Hypertriglyceridemia, Hyperinsulinemia, Insulin resistance, Increased circulating free fatty acid... ORPHA:2457
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Jaundice, Anemia, Elevated circulating hepatic transaminase concentration, Abnormal natural kille... ORPHA:79124
Kikuchi-Fujimoto Disease
Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Elevated circulati... ORPHA:50918
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Jaundice, Elevated circulating hepatic transaminase concentration, Abnormality of endocrine pancr... ORPHA:93111
Cimdag Syndrome
Microvesicular hepatic steatosis, Hepatomegaly, Cholelithiasis OMIM:619273
Fanconi-Bickel Syndrome
Hepatomegaly, Intrahepatic cholestasis, Increased serum bile acid concentration, Generalized amin... OMIM:227810
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Jaundice, Methylmalonic acidemia, Hyperhomocystinemia, Megaloblastic anemia, Elevated circulating... ORPHA:79282
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Pancreatitis, Vacuolated lymphocytes, Hyperlipidemia, Elevated circulating creatine... ORPHA:565612
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphopenia, Autoimmune thrombocytopenia OMIM:616100
Combined Oxidative Phosphorylation Deficiency 4
Hyperammonemia, Hepatomegaly OMIM:610678
Pediatric-Onset Graves Disease
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Neutropenia in p... ORPHA:525731
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Hepatomegaly, Cholestasis, Asplenia, Hepatic cysts, Hepatic fibrosis, Malformati... OMIM:615415
Beta-Ketothiolase Deficiency
Hepatomegaly, Hyperuricemia, Leukocytosis, Hyperammonemia, Hyperglycemia, Hypoglycemia, Thrombocy... ORPHA:134
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Splenomegaly, Lymphopenia, Abnormally low... OMIM:602450
Peroxisome Biogenesis Disorder 13A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Intrahepatic cholestasis, Hepatom... OMIM:614887
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Reduced natural killer cell count, Neutropenia, Cutaneous abscess, Lymphopenia OMIM:619752
Glycogen Storage Disease Ia
Xanthelasma, Enlarged kidney, Hepatomegaly, Pancreatitis, Elevated circulating hepatic transamina... OMIM:232200
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Ascites, Splenomegaly, Hypoalbuminemia, Hypocholesterolemia OMIM:608776
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Hypoproteinemia, C... OMIM:615895
Agammaglobulinemia, X-Linked
Anemia, B lymphocytopenia, Hepatocellular carcinoma, Enteroviral hepatitis, T lymphocytopenia, Ne... OMIM:300755
Aromatase Deficiency
Hyperlipidemia, Enlarged polycystic ovaries, Type II diabetes mellitus, Insulin resistance, Hepat... ORPHA:91
Gaucher Disease, Type I
Hepatomegaly, Anemia, Pancytopenia, Multiple myeloma, Thrombocytopenia, Splenomegaly, Hypersplenism OMIM:230800
Diamond-Blackfan Anemia 4
Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia, Neutropenia OMIM:612527
Vipoma
Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Normochromic anemia, Hypokalemi... ORPHA:97282
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevate... OMIM:615356
Developmental And Epileptic Encephalopathy 102
Hepatomegaly OMIM:619881
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly OMIM:613730
Barth Syndrome
Hypochromic microcytic anemia, Elevated monolysocardiolipin/cardiolipin ratio, Cyclic neutropenia... OMIM:302060
Beta-Thalassemia Major
Anisopoikilocytosis, Cirrhosis, Jaundice, Hypochromic microcytic anemia, Hepatomegaly, Abnormalit... ORPHA:231214
Somatostatinoma
Steatorrhea, Intrahepatic cholestasis, Neoplasm of the pancreas, Hypochromic microcytic anemia, G... ORPHA:97283
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Lysinuric Protein Intolerance
Hepatomegaly, Anemia, Hemophagocytosis, Pancreatitis, Intraalveolar phospholipid accumulation, Hy... OMIM:222700
Prolidase Deficiency
Hepatomegaly, Anemia, Prolonged neonatal jaundice, Thrombocytopenia, Splenomegaly, Elevated circu... OMIM:170100
Leigh Syndrome
Anemia, Neutropenia, Generalized aminoaciduria, Hyperalaninemia, Hypoglycemia, Hepatic failure ORPHA:506
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Enlarged kidney, Cholestasis, Biliary cirrhosis... OMIM:208540
Thoraco-Abdominal Enteric Duplication
Hepatomegaly ORPHA:1759
Peroxisome Biogenesis Disorder 4A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Hepatomegaly OMIM:614862
Klatskin Tumor
Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Hepatomegaly ORPHA:99978
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Thrombocytopenia, Anemia, Aminoaciduria, Neutropenia OMIM:614520
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Maturity-onset diabetes of the young, Hypercholesterolemia ORPHA:96184
Mucopolysaccharidosis, Type Iiib
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:252920
Citrullinemia, Classic
Elevated plasma citrulline, Cirrhosis, Hepatomegaly, Hyperammonemia, Episodic ammonia intoxicatio... OMIM:215700
Reynolds Syndrome
Calcinosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Stea... OMIM:613471
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Elevated circulating creatine kinase concentration, Decreased circulating cortisol level,... OMIM:618838
Cryoglobulinemic Vasculitis
Abnormality of the liver, Hepatomegaly, Splenomegaly, Viral hepatitis ORPHA:91138
Cohen Syndrome
Leukopenia, Neutropenia OMIM:216550
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Hepatomegaly ORPHA:50812
Garg-Mishra Progeroid Syndrome
Microvesicular hepatic steatosis OMIM:620601
Typhoid
Hepatomegaly, Splenomegaly ORPHA:99745
Acute Promyelocytic Leukemia
Anemia, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Neutropenia ORPHA:520
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Familial Mediterranean Fever
Hepatomegaly, Elevated circulating C-reactive protein concentration, Leukocytosis, Neutrophilia, ... OMIM:249100
Cartilage-Hair Hypoplasia
Hepatomegaly, Anemia, Hypocalcemia, Abnormality of the pancreas, Neutropenia ORPHA:175
Argininosuccinic Aciduria
Hepatomegaly, Increased circulating argininosuccinic acid, Hyperammonemia, Episodic ammonia intox... OMIM:207900
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Elevated circulating tetradecanoylcarnitine concentration, Elevated circulating hepatic transamin... OMIM:619355
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Anemia, Hypercalcemia, Hypophosphatemia, Splenomegaly, Aminoaciduria OMIM:239200
Pseudo-Torch Syndrome 1
Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Hepa... OMIM:251290
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Anemia, Pancytopenia, Hepatitis, Thrombocytopenia, Splenomegaly, Increased circulat... OMIM:615846
Primary Sclerosing Cholangitis
Elevated circulating hepatic transaminase concentration, Adenocarcinoma of the large intestine, C... ORPHA:171
Isolated Thyroid-Stimulating Hormone Deficiency
Prolonged neonatal jaundice, Abnormal circulating thyroglobulin concentration, Hypercholesterolem... ORPHA:90674
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Hepatomegaly, Splenomegaly OMIM:619183
Fructose-1,6-Bisphosphatase Deficiency
Hypoglycemia, Hepatomegaly OMIM:229700
Klippel-Trénaunay Syndrome
Hepatomegaly, Ascites, Hemangioma, Patent ductus arteriosus, Microcytic anemia ORPHA:90308
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration, Hepatomegaly OMIM:614376
Ziegler-Huang Syndrome
Persistence of hemoglobin F, Macrocytic anemia, Neutropenia OMIM:620501
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Chronic Granulomatous Disease
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Liver abscess ORPHA:379
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Splenic cyst, Increased circulating thyroglobulin concentration, Pancreatic hypopla... OMIM:610199
Glutaric Acidemia I
Hypoglycemia, Hepatomegaly, Elevated circulating glutaric acid concentration OMIM:231670
Coach Syndrome 1
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Abnormal abdome... OMIM:216360
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Jaundice, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia, Stomatocytosis... OMIM:608885
Aregenerative Anemia
Erythroid hypoplasia, Pancytopenia, Abnormal proportion of CD8-positive T cells, Reticulocytopeni... ORPHA:101096
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Anemia, Pancytopenia, Hypocalcemia, Thrombocytopenia, Splenomegaly OMIM:259700
Macrocephaly/Autism Syndrome
Hepatomegaly, Splenomegaly, Lymphopenia OMIM:605309
Fanconi Anemia, Complementation Group D2
Annular pancreas, Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Patent ductus arteri... OMIM:227646
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Anemia, Hyperuricemia, Decreased circulating carnitine concentration, Elevated circ... OMIM:246450
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly ORPHA:422
Peroxisome Biogenesis Disorder 1B
Hyperoxaluria, Cirrhosis, Hepatomegaly, Hepatic fibrosis OMIM:601539
Immunodeficiency 23
Hodgkin lymphoma, Lymphopenia, Eosinophilia, Abscess, Hemolytic anemia, Neutropenia OMIM:615816
3-Methylglutaconic Aciduria, Type Viii
Neonatal hypoglycemia, Jaundice, Patent ductus arteriosus, Neutropenia OMIM:617248
Sialuria
Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hepatosplenomegaly, Cholel... ORPHA:3166
Pseudo-Torch Syndrome 2
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ascites, Thrombocytopenia,... OMIM:617397
Toxic Epidermal Necrolysis
Elevated circulating hepatic transaminase concentration, Anemia, Pancreatitis, Thrombocytopenia, ... ORPHA:537
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Elevated circulati... OMIM:619525
Idiopathic Aplastic Anemia
Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia ORPHA:88
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Patent ductus arteriosus, ... ORPHA:17
Alagille Syndrome 1
Hypertriglyceridemia, Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepatoc... OMIM:118450
Cartilage-Hair Hypoplasia
Basal cell carcinoma, Impaired lymphocyte transformation with phytohemagglutinin, Anemia, Macrocy... OMIM:250250
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Thrombocytopenia, Splenomegaly, Neoplasm, Hemolytic anemia ORPHA:169090
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia ORPHA:99931
Polycythemia Vera
Acute leukemia, Hepatomegaly, Leukocytosis, Portal hypertension, Portal vein thrombosis, Polycyth... ORPHA:729
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hypoketotic hypo... ORPHA:26793
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia, Type II diabetes mellitus ORPHA:401923
Niemann-Pick Disease, Type C2
Sea-blue histiocytosis, Jaundice, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundi... OMIM:607625
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibod... ORPHA:391487
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Anemia, B lymphocytopenia, Reticulocytopenia, Leukopenia, Thrombocytopenia, Lymphopenia, Myelodys... ORPHA:508542
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Splenomegaly ORPHA:33577
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Splenomegaly OMIM:252900
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia, Hepatomegaly OMIM:618810
Majeed Syndrome
Hepatomegaly, Hypochromic microcytic anemia, Leukocytosis, Splenomegaly, Congenital hypoplastic a... ORPHA:77297
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hypoglycemia, Patent ductus arteriosus, Neutropenia OMIM:618005
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Anemia, Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia OMIM:242900
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Biliary tract obstruction,... ORPHA:100085
Mitochondrial Trifunctional Protein Deficiency 2
Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase concentration... OMIM:620300
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Poikilocytosis, Elliptocytosis, Anisocytosis, Thrombocytopenia, Abnormal retic... OMIM:300835
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hyperglycemia, Type II diabetes me... OMIM:615812
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Type I diabetes mellitus, Hepatomegaly OMIM:560000
Peroxisome Biogenesis Disorder 2A (Zellweger)
Jaundice, Hepatomegaly, Intrahepatic biliary dysgenesis, Hypoplasia of the thymus, Elevated circu... OMIM:214110
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Elevated circulati... OMIM:615688
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating creat... OMIM:617713
Arima Syndrome
Cirrhosis, Hepatomegaly, Anemia, Hepatic fibrosis, Hepatic steatosis OMIM:243910
Immunodeficiency 59 And Hypoglycemia
Prolonged neonatal jaundice, Hypoglycemia, Hepatomegaly, Decreased proportion of class-switched m... OMIM:233600
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Scheie Syndrome
Hepatomegaly, Splenomegaly ORPHA:93474
3-Methylglutaconic Aciduria, Type Viia
Anisopoikilocytosis, Anemia, Neutropenia OMIM:619835
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased liver function, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Abnormal circulating lip... ORPHA:77293
Aa Amyloidosis
Enlarged kidney, Hepatomegaly, Cholestasis ORPHA:85445
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:819
Glycogen Storage Disease Ii
Increased muscle glycogen content, Hepatomegaly, Increased circulating NT-proBNP concentration, E... OMIM:232300
Bardet-Biedl Syndrome 20
Hypercholesterolemia, Pancreatitis, Elevated circulating hepatic transaminase concentration OMIM:619471
Hereditary Fructose Intolerance
Hypermagnesemia, Jaundice, Hepatomegaly, Hyperuricemia, Chronic hepatic failure, Hypophosphatemia... ORPHA:469
Familial Adenomatous Polyposis
Lipoma, Odontoma, Pituitary adenoma, Neoplasm of the gastrointestinal tract, Desmoid tumors, Duod... ORPHA:733
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Splenomegaly OMIM:612387
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Periportal fibrosis, Portal hypertension, Splenomegaly, Hepatic cy... OMIM:263200
Syndromic Diarrhea
Cirrhosis, Hepatomegaly, Abnormality of iron homeostasis, Patent ductus arteriosus, Hypoplasia of... ORPHA:84064
Fanconi Anemia, Complementation Group E
Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Leukemia, Neutropenia OMIM:600901
Ppoma
Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Cholelithiasis, Adrenocortical ... ORPHA:97278
Gm1-Gangliosidosis, Type Ii
Hepatomegaly, Sea-blue histiocytosis, Splenomegaly, Patent ductus arteriosus OMIM:230600
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Liver abscess, Hepatomegaly, Rectal abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Liver abscess, Hepatomegaly, Rectal abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis OMIM:233710
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Anemia, Hypochromic microcytic anemia, Pancytopenia, Hypocalcemia, Hyperbilirubinem... OMIM:259720
Glucagonoma
Steatorrhea, Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Normochromic anemi... ORPHA:97280
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Generalized aminoaciduria,... ORPHA:404454
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Hepatomegaly, Elevated circulating creatine kinase concentration OMIM:619424
Developmental Delay, Hypotonia, And Impaired Language
Neutropenia OMIM:620012
Grfoma
Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Cholelithiasis, Adrenocortical ... ORPHA:97261
Hereditary Amyloidosis With Primary Renal Involvement
Decreased liver function, Decreased HDL cholesterol concentration, Hepatomegaly, Anemia, Decrease... ORPHA:85450
Diamond-Blackfan Anemia 11
Anemia of inadequate production, Neutropenia OMIM:614900
Rothmund-Thomson Syndrome Type 1
Aplastic anemia, Basal cell carcinoma, Calcinosis, Anemia, Squamous cell carcinoma, Neoplasm of t... ORPHA:221008
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Carcinoma, Hypercholesterolemia, Hypertriglyceridemia, Laryngeal carcinoma OMIM:610644
Familial Adenomatous Polyposis 1
Fibroma, Osteoma, Duodenal polyposis, Adrenocortical adenoma, Adenomatous colonic polyposis, Carc... OMIM:175100
Fanconi Anemia, Complementation Group A
Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Leukemia, Neutropenia OMIM:227650
Gardner Syndrome
Neoplasm of the pancreas, Lipoma, Odontoma, Ampulla of Vater carcinoma, Desmoid tumors, Multiple ... ORPHA:79665
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hepatic steatosis, Leukocytosis, Azotemia OMIM:619321
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Splenomegaly, Decreased serum zinc OMIM:201100
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Patent ductus arteriosus, Macrocytic anemia, Neutropenia OMIM:612562
Rothmund-Thomson Syndrome
Aplastic anemia, Basal cell carcinoma, Calcinosis, Anemia, Squamous cell carcinoma, Neoplasm of t... ORPHA:2909
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Liver abscess, Hepatomegaly, Rectal abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis OMIM:233690
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Hepatomegaly, B lymphocy... OMIM:102700
Oculoskeletodental Syndrome
Hypocalcemia, Hepatomegaly, Hypercalcemia, Splenomegaly OMIM:618440
Dyskeratosis Congenita, Autosomal Dominant 3
Aplastic anemia, Anemia, Macrocytic anemia, Pancytopenia, Leukopenia, Thrombocytopenia, Neutropenia OMIM:613990
Zygomycosis
Pancreatitis, Neutropenia, Splenic abscess, Peritonitis, Hematological neoplasm, Diabetes mellitu... ORPHA:73263
Transketolase Deficiency
Type I diabetes mellitus, Hepatomegaly, Elevated circulating ribitol concentration, Patent ductus... ORPHA:488618
Rothmund-Thomson Syndrome Type 2
Aplastic anemia, Basal cell carcinoma, Calcinosis, Anemia, Squamous cell carcinoma, Neoplasm of t... ORPHA:221016
American Trypanosomiasis
Hepatomegaly, Splenomegaly ORPHA:3386
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hepatomegaly OMIM:619053
Hypocalcemic Vitamin D-Dependent Rickets
Hepatomegaly, Hypocalcemic seizures, Generalized aminoaciduria, Hypocalcemia, Leukocytosis, Splen... ORPHA:289157
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Microvesicular h... OMIM:203700
Vici Syndrome
Elevated circulating creatine kinase concentration, T lymphocytopenia, Left ventricular hypertrop... OMIM:242840
Congenital Disorder Of Glycosylation, Type Iie
Decreased liver function, Hepatomegaly, Jaundice, Elevated circulating creatine kinase concentrat... OMIM:608779
Reynolds Syndrome
Cirrhosis, Jaundice, Ascites, Hepatomegaly ORPHA:779
Autoinflammatory Disease, Systemic, With Vasculitis
Jaundice, Anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration, Increased ... OMIM:620376
Biliary, Renal, Neurologic, And Skeletal Syndrome
Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosis, Ascites, Prolonged neonatal ja... OMIM:619534
Multiple Endocrine Neoplasia, Type I
Adenoma sebaceum, Glucagonoma, Adrenocortical adenoma, Pancreatic islet cell adenoma, Pituitary p... OMIM:131100
Gaucher Disease, Type Iiic
Cardiomegaly, Hepatomegaly, Splenomegaly, Pancytopenia OMIM:231005
Fanconi Anemia, Complementation Group I
Neutropenia OMIM:609053
Trichohepatoenteric Syndrome 1
Cirrhosis, Jaundice, Hepatomegaly, Abnormality of iron homeostasis, Hypermethioninemia, Cholestas... OMIM:222470
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia ORPHA:86816
Aspartylglucosaminuria
Vacuolated lymphocytes, Hepatomegaly, Aspartylglucosaminuria, Neutropenia OMIM:208400
Immunodeficiency 55
Absent natural killer cells, Neutropenia, Myelodysplasia, Lymphopenia OMIM:617827
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma OMIM:603776
Mandibuloacral Dysplasia Progeroid Syndrome
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macr... OMIM:619127
Joubert Syndrome With Hepatic Defect
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Intrahepatic bi... ORPHA:1454
Wiskott-Aldrich Syndrome
Acute leukemia, Anemia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Lymphoma, Abnor... ORPHA:906
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Hypocalcemia, Pancreatic lymphangiectasis, Hypoproteinemia, Ascites, Splenomegaly, ... OMIM:235255
Fanconi Anemia, Complementation Group C
Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Leukemia, Neutropenia OMIM:227645
Atypical Werner Syndrome
Neoplasm of the oral cavity, Neoplasm of the thyroid gland, Hypertriglyceridemia, Renal neoplasm,... ORPHA:79474
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Hypocalcemia, Pancreatic lymphangiectasis, Hypoproteinemia, Ascites, Hepatosplenome... ORPHA:1655
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Lymphoma, Splenomegaly, Monoclonal immunoglobulin M proteinemia,... ORPHA:33226
Staphylococcal Necrotizing Pneumonia
Elevated circulating C-reactive protein concentration, Leukocytosis, Neutrophilia, Leukopenia, Di... ORPHA:36238
Poems Syndrome
Hepatomegaly, Visceromegaly, Ascites, Hemangioma, Polycythemia, Diabetes mellitus, Splenomegaly, ... ORPHA:2905
Al Amyloidosis
Hepatomegaly, Anemia, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Abnorma... ORPHA:85443
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Jaundice, Hyperalaninemia, Hyperammonemia, Hypernatremia, Hypoornithinemia, Hyperprolinemia, Low ... OMIM:615751
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Steinert Myotonic Dystrophy
Hyperinsulinemia, Elevated circulating hepatic transaminase concentration, Cholelithiasis, Neopla... ORPHA:273
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Hepatomegaly, Ascites, Hepatic fibrosis, Pancreatic fibrosis, Polysplenia OMIM:200995
Biotinidase Deficiency
Hyperammonemia, Hepatomegaly, Splenomegaly OMIM:253260
Immunodeficiency 31C
Autoimmune hemolytic anemia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglut... OMIM:614162
Joubert Syndrome 8
Prolonged neonatal jaundice, Hepatomegaly OMIM:612291
Granulomatous Disease, Chronic, X-Linked
Liver abscess, Hepatomegaly, Rectal abscess, Ascites, Granuloma, Splenomegaly, Impaired oxidative... OMIM:306400
Whim Syndrome
Neutropenia, Abnormal neutrophil morphology, Papilloma, Verrucae, Lymphopenia, Cutaneous melanoma... ORPHA:51636
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Familial Tumoral Calcinosis
Neoplasm of the skin, Hepatomegaly, Splenomegaly ORPHA:53715
Isolated Complex I Deficiency
Increased serum pyruvate, Hypoglycemia, Hepatomegaly, Diabetes mellitus ORPHA:2609
Pyruvate Carboxylase Deficiency
Hypertaurinemia, Elevated plasma citrulline, Hepatomegaly, Hyperglutamatemia, Increased serum pyr... ORPHA:3008
Neuroendocrine Tumor Of The Colon
Carcinoid tumor, Atypical pulmonary carcinoid tumor, Hepatomegaly, Elevated circulating hepatic t... ORPHA:100080
Hyper-Igd Syndrome
Leukocytosis, Neutrophilia, Hepatosplenomegaly, Splenomegaly, Renal angiomyolipoma OMIM:260920
Q Fever
Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Granuloma, Hepatos... ORPHA:781
Prader-Willi Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Type II diabetes... OMIM:176270
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Cholestasis, Leukocytosis OMIM:620233
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:277460
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Porphyria, Congenital Erythropoietic
Jaundice, Hepatomegaly, Cholelithiasis, Elevated circulating uroporphyrin concentration, Thromboc... OMIM:263700
Neuroendocrine Tumor Of Stomach
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, At... ORPHA:100075
Diamond-Blackfan Anemia 1
Basal cell carcinoma, Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increase... OMIM:105650
Intellectual Developmental Disorder, Autosomal Dominant 68
Hepatic steatosis, Patent ductus arteriosus OMIM:619934
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Jaundice, Hyponatremia, Decreased circulating cortisol level, Breast carcinoma, Hyp... ORPHA:90790
Trichothiodystrophy
Increased mean corpuscular hemoglobin concentration, Anemia, Squamous cell carcinoma, Neutropenia ORPHA:33364
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmune thrombocytopenia, Neutropenia, Lymphopenia, T lymphocytopenia OMIM:607944
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating alanine am... ORPHA:308552
Gaucher Disease, Type Ii
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:230900
Hardikar Syndrome
Decreased liver function, Elevated circulating hepatic transaminase concentration, Intrahepatic b... OMIM:301068
Dyskeratosis Congenita
Cirrhosis, Neoplasm of the pancreas, Anemia, Hepatomegaly, Lymphoma, Diabetes mellitus, Thrombocy... ORPHA:1775
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Smith-Lemli-Opitz Syndrome
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating 7-dehydrocholesterol con... OMIM:270400
Juvenile Polyposis Syndrome
Neoplasm of the pancreas, Anemia, Hepatic arteriovenous malformation, Stomach cancer, Hamartomato... ORPHA:2929
Hermansky-Pudlak Syndrome
Basal cell carcinoma, Squamous cell carcinoma of the skin, Neutropenia ORPHA:79430
Osteopetrosis, Autosomal Recessive 7
Hypocalcemic seizures, Hepatomegaly, Anemia, Splenomegaly OMIM:612301
Neuhauser Syndrome
Hypercholesterolemia OMIM:249310
Neuroendocrine Neoplasm Of Appendix
Hepatomegaly, Ovarian neoplasm, Elevated circulating hepatic transaminase concentration, Adenocar... ORPHA:100079
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Pancreatic hypoplasia, Histiocytosis, Hepatosplenomegaly, Splenomegaly, Patent duct... OMIM:602782
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Impaired glucose tolerance, Recurrent pancreatitis, Insulin resistance, Typ... OMIM:606721
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Cirrhosis, Hepatomegaly, Microvesicular hepatic steatosis, Elevated hepatic iron concentration, P... OMIM:300868
Herpes Simplex Virus Encephalitis
Hyponatremia, Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:1930
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hepatic arteriovenous malformation, Anemia, Hamartomatous polyposis, Juvenile gastrointestinal po... OMIM:175050
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... ORPHA:415
Cystic Fibrosis
Cirrhosis, Hepatomegaly, Pancreatitis, Steatorrhea, Biliary cirrhosis, Hepatosplenomegaly, Exocri... OMIM:219700
X-Linked Intellectual Disability, Nascimento Type
Recurrent cutaneous abscess formation, Patent ductus arteriosus, Neonatal hyperbilirubinemia, Neu... ORPHA:163956
Cryptogenic Organizing Pneumonia
Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:1302
Marburg Hemorrhagic Fever
Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Hypokalemia, Neu... ORPHA:99826
Khan-Khan-Katsanis Syndrome
Patent ductus arteriosus after premature birth, Neutropenia, Anemia, Lymphopenia OMIM:618460
Idiopathic Hypereosinophilic Syndrome
Anemia, Elevated circulating hepatic transaminase concentration, Portal fibrosis, Cholangitis, Pa... ORPHA:3260
Cohen Syndrome
Neutropenia ORPHA:193
Beckwith-Wiedemann Syndrome
Rhabdomyosarcoma, Enlarged kidney, Large intestinal polyposis, Splenomegaly, Neoplasm, Cardiomega... ORPHA:116
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Neonatal hypoglycemia, Cardiomegaly, Gonadoblastoma, Pancreatic hy... OMIM:130650
Yellow Fever
Jaundice, Hyperbilirubinemia, Acute pancreatitis, Leukocytosis, Elevated circulating alanine amin... ORPHA:99829
Sweet Syndrome
Anemia, Acute myeloid leukemia, Elevated circulating C-reactive protein concentration, Chronic ly... ORPHA:3243
Oculocerebrorenal Syndrome Of Lowe
Anemia, Hypokalemia, Neoplasm of the skin, Hyponatremia, Thrombocytopenia, Hypophosphatemia, Hype... ORPHA:534
Leprechaunism
Enlarged kidney, Hyperinsulinemia, Hepatomegaly, Fasting hypoglycemia, Hypokalemia, Increased cir... ORPHA:508
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Hepatic steatosis ORPHA:391665
Brucellosis
Lung abscess, Liver abscess, Anemia, Hepatomegaly, Elevated circulating C-reactive protein concen... ORPHA:1304
Bardet-Biedl Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Impaired fasting glucose, Elevated... ORPHA:110
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... OMIM:608203
Agammaglobulinemia 1, Autosomal Recessive
Rectal abscess, B lymphocytopenia, Neutropenia OMIM:601495
Gaucher Disease
Cirrhosis, Hepatomegaly, Anemia, Decreased HDL cholesterol concentration, Cholelithiasis, Pancyto... ORPHA:355
Selective Igm Deficiency
Thyroid carcinoma, Decreased proportion of CD8-positive T cells, Stomach cancer, Decreased propor... ORPHA:331235
Leukocyte Adhesion Deficiency Type Ii
Hepatomegaly, Anemia, Leukocytosis, Neutrophilia, Microcytic anemia ORPHA:99843
Ogden Syndrome
Enlarged kidney, Jaundice, Macrovesicular hepatic steatosis, Iron deficiency anemia, Maternal dia... OMIM:300855
Turner Syndrome Due To Structural X Chromosome Anomalies
Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Elevated circulating hepatic transaminase... ORPHA:99413
Mosaic Monosomy X
Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Elevated circulating hepatic transaminase... ORPHA:99228
Monosomy X
Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Elevated circulating hepatic transaminase... ORPHA:99226
Turner Syndrome
Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Elevated circulating hepatic transaminase... ORPHA:881
Gaucher Disease Type 3
Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly ORPHA:77261
1P36 Deletion Syndrome
Annular pancreas, Neuroblastoma, Abnormality of the spleen, Patent ductus arteriosus, Abnormality... ORPHA:1606
Revesz Syndrome
Aplastic anemia, Macrocytic anemia, Neutropenia OMIM:268130
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Anemia, Pancytopenia, Hypocalcemia, Elevated circulating creatine kinase concentrat... ORPHA:2785
Intellectual Developmental Disorder, Autosomal Dominant 54
Neutropenia OMIM:617799
Cardiogenic Shock
Elevated circulating creatinine concentration, Hepatomegaly ORPHA:97292
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Increased prop... OMIM:617099
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Hyperammonemia, Hyperglycemia, Left ventricular hypertrophy, Hy... OMIM:220111
Crimean-Congo Hemorrhagic Fever
Jaundice, Hepatomegaly, Pancytopenia, Acute pancreatitis, Leukocytosis, Ascites, Elevated circula... ORPHA:99827
Digeorge Syndrome
Anemia, Cholelithiasis, Hypocalcemia, Hypoplasia of the thymus, Thrombocytopenia, Splenomegaly, P... OMIM:188400
Cystinosis, Nephropathic
Hepatomegaly, Hypophosphatemic rickets, Generalized aminoaciduria, Reduced blood urea nitrogen, H... OMIM:219800
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Nephroblastoma, Enlarged kidney, Chronic neutropenia, Transient neutropenia ORPHA:500095
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Jaundice, Elevated circulating hepatic transaminase concentration, Abnormal abdomen morphology, H... OMIM:619475
Congenital Tricuspid Valve Dysplasia
Cardiomegaly, Hepatomegaly, Right ventricular hypertrophy ORPHA:555874
Ectodermal Dysplasia And Immunodeficiency 2
Hepatomegaly, Splenomegaly OMIM:612132
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Elevated circulating hepatic transaminase concentration, Renal tubular epithelial necrosis, Anemi... ORPHA:95455
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Neutropenia OMIM:271510
Pneumocystosis
Abnormal neutrophil count, Neoplasm ORPHA:723
Hereditary Hemorrhagic Telangiectasia
Cirrhosis, Hepatic arteriovenous malformation, Anemia, Intestinal polyposis, Cholelithiasis, Port... ORPHA:774
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hypocalcemia, Cholestasis, Portal hypertension, Hepatosplenomegaly, Hypomagnesemia, Fetal ascites... OMIM:619503
Thauvin-Robinet-Faivre Syndrome
Nephroblastoma, Transient neutropenia OMIM:617107
Leptospirosis
Hepatomegaly, Jaundice, Thrombocytopenia, Elevated serum transaminases during infections, Hyperpr... ORPHA:509
Lowe Oculocerebrorenal Syndrome
Bicarbonaturia, Elevated circulating creatine kinase concentration, Elevated amniotic fluid alpha... OMIM:309000
Eisenmenger Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Hepatomegaly, Hypochromic microcyt... ORPHA:97214
Familial Idiopathic Dilatation Of The Right Atrium
Cardiomegaly, Hepatomegaly, Right ventricular hypertrophy, Abnormality of the hepatic vasculature ORPHA:1677
Alström Syndrome
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Abnormal liver physiology, Elevated circulating he... ORPHA:64
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Hepatic steatosis, Type II diabetes mellitus ORPHA:3455
Telangiectasia, Hereditary Hemorrhagic, Type 2
Cirrhosis, Hepatic arteriovenous malformation, Anemia, Polycythemia, Brain abscess OMIM:600376
Telangiectasia, Hereditary Hemorrhagic, Type 1
Cirrhosis, Hepatic arteriovenous malformation, Anemia, Polycythemia, Brain abscess OMIM:187300
Sponastrime Dysplasia
Neutropenia ORPHA:93357

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 Gnmt

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 Gnmt.

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

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Gnmttm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Gnmttm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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