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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
Elevated hepatic transaminase, Hepatomegaly, 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
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, ... OMIM:232700
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia OMIM:606664
Hemochromatosis, Neonatal
Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,... OMIM:231100
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:619868
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs... OMIM:226990
Fetal Cytomegalovirus Syndrome
Splenomegaly, Anemia, Hepatomegaly ORPHA:294
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... OMIM:616828
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... OMIM:614480
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619874
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, J... OMIM:603552
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... OMIM:616829
Pediatric Hepatocellular Carcinoma
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat... ORPHA:33402
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated circulating C-reactive protein concentration, Squamous cell carcinoma, Prostate cancer, ... ORPHA:158057
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Increased LDL ... OMIM:615703
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatosp... OMIM:612526
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating... ORPHA:139507
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Elevated ci... OMIM:610717
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Lymphoproliferative disorder, Autoimmune thrombocyt... OMIM:614470
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy... OMIM:306000
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase OMIM:618400
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... OMIM:606069
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... OMIM:619802
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Pancytopenia, Hypoglycemia, Elevated circulating creatinine concentration, Increase... OMIM:617872
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein... OMIM:251880
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:615395
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia OMIM:261650
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa... ORPHA:75234
Diarrhea 13
Elevated hepatic transaminase, Hepatic steatosis, Recurrent hypoglycemia, Hypoalbuminemia 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
Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin... OMIM:604250
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni... OMIM:278000
Congenital Disorder Of Glycosylation, Type Iir
Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Jaundi... OMIM:301045
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cardio... OMIM:201475
Immunodeficiency 21
Aplastic anemia, Myelodysplasia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropen... OMIM:614172
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... ORPHA:75564
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp... OMIM:618986
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam... ORPHA:71212
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Hypoglycemic seizures, Hepatic necrosis, Hepatic steatosis, Hypoketoti... OMIM:231530
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hypertriglyceridemia, Hepatomegaly OMIM:619175
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia, Myelodysplasia OMIM:162830
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hepatic steatosis ORPHA:436182
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Decrea... OMIM:619048
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio... OMIM:308240
Idiopathic Copper-Associated Cirrhosis
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre... ORPHA:209919
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevat... OMIM:615158
Patent Ductus Venosus
Hepatic steatosis, Hypergalactosemia, Hyperammonemia, Decreased liver function OMIM:601466
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia OMIM:609016
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circu... OMIM:619386
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancrea... ORPHA:79084
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver, Thrombocytopenia ORPHA:1980
Acquired Partial Lipodystrophy
Insulin resistance, Hepatic steatosis, Lymphocytosis ORPHA:79087
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... OMIM:603471
Trimethylaminuria
Splenomegaly, Anemia, Neutropenia OMIM:602079
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Hemophagocytosis, Neutropenia ORPHA:79477
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circula... OMIM:605814
Glycogen Storage Disease Ixb
Hepatomegaly, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Hyperuricemia, Incre... OMIM:261750
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... ORPHA:158061
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly ORPHA:46532
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619662
Multiple Symmetric Lipomatosis
Hepatomegaly, Insulin resistance, Multiple lipomas ORPHA:2398
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:620010
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Thrombocytopenia, Hyperammonemia, Neutropenia, Pancreatitis, Anemia ORPHA:289916
Alpha-Thalassemia-Myelodysplastic Syndrome
Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thr... ORPHA:231401
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel... OMIM:607616
Galactokinase Deficiency
Hepatomegaly, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Increased level of galactitol i... ORPHA:79237
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob... OMIM:133180
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Hepatic f... ORPHA:280356
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Thrombocytopenia, Splenomegaly, Hyperammonemia, Neutropenia, Pancreatitis, Anemia ORPHA:79312
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:600649
Carcinoid Syndrome
Elevated hepatic transaminase, Hepatic necrosis, Pulmonary carcinoid tumor, Small intestine carci... ORPHA:100093
Neonatal Hemochromatosis
Hypoglycemia, Increased circulating ferritin concentration, Congenital hepatic fibrosis, Increase... ORPHA:446
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increas... OMIM:616860
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:255120
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Microcytic anemia, Elevated circulating alanine aminotransferase concentration, Hyp... OMIM:618805
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Lymphocytosis, Hepatomegaly OMIM:606445
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... OMIM:237800
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Hepatic steatosis, Ketotic hypoglycemia ORPHA:26792
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Hypergalactosemia OMIM:230350
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Abnormal circulating lipid concentration, Hepatic steatosis OMIM:608709
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc... ORPHA:882
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Hyperammonemia, Leukopenia, Hyperglycinemia, ... OMIM:251000
Peroxisome Biogenesis Disorder 10A (Zellweger)
Hepatomegaly OMIM:614882
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... OMIM:605911
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Increased circulating ferritin concent... OMIM:613313
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Jaundice, Generalized aminoaciduria, Glycosuria, Elevated circulating... OMIM:231680
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Hypoglycemia ORPHA:67046
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... OMIM:604367
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly OMIM:607685
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hypoglycemia, Low plasma citrulline, Elevated circulating alanine aminotransferase ... OMIM:261680
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Steatorrhea, Neutropenia OMIM:618752
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Liver abscess, Diabetes mellitus, Cholangitis, Intrahepatic choles... ORPHA:69663
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Myelodysplasia, Hepatic necrosis, Anemia, Leukopenia, Increased mean corpuscular... OMIM:127550
Lipodystrophy, Familial Partial, Type 4
Insulin-resistant diabetes mellitus, Insulin resistance, Hypertriglyceridemia, Hepatic steatosis OMIM:613877
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi... OMIM:613027
Lipodystrophy, Familial Partial, Type 6
Diabetes mellitus, Elevated circulating creatine kinase concentration, Insulin resistance, Hyperl... OMIM:615980
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Neutropenia OMIM:615387
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Diabetic ketoacidosis, Hepatic steatosis, Increased C-peptide... OMIM:615238
Propionic Acidemia
Hepatomegaly, Pancytopenia, Hypoglycemia, Thrombocytopenia, Hyperglycinuria, Hyperammonemia, Hype... OMIM:606054
Rotor Syndrome
Conjugated hyperbilirubinemia, Jaundice, Intermittent jaundice, Hyperbilirubinemia, Storage in he... ORPHA:3111
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Elevated circula... ORPHA:264580
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... OMIM:616278
Cog4-Cdg
Elevated hepatic transaminase, Fatal liver failure in infancy, Hepatosplenomegaly, Cirrhosis, Hyp... ORPHA:263501
Immunodeficiency 104
Splenomegaly, T lymphocytopenia, Hepatomegaly OMIM:608971
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Macrocytic anemia, Elevated hepatic transaminase, Hepatic st... OMIM:615438
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Wolcott-Rallison Syndrome
Hyponatremia, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neonatal insuli... ORPHA:1667
Combined Oxidative Phosphorylation Deficiency 21
Hyperalaninemia, Hepatic steatosis, Hyperprolinemia OMIM:615918
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Typ... OMIM:301078
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Portal fibrosis, Hepat... ORPHA:369
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli... OMIM:214900
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Aminoaciduria, Hepatomegaly ORPHA:417
Obesity And Hypopigmentation
Hyperinsulinemia, Hepatic steatosis OMIM:620195
Gracile Syndrome
Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce... ORPHA:53693
Galactose Epimerase Deficiency
Splenomegaly, Jaundice, Aminoaciduria, Hepatomegaly ORPHA:79238
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diab... ORPHA:324575
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:228305
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Neoplasm, Hypocalcemia ORPHA:172
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... ORPHA:79240
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Diffuse hep... OMIM:264470
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... ORPHA:247598
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypoglycemia, Elevated circulati... ORPHA:26791
Congenital Generalized Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Cirr... ORPHA:528
Systemic Primary Carnitine Deficiency
Elevated hepatic transaminase, Hepatomegaly ORPHA:158
Immunodeficiency 102
Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Neutropenia... OMIM:301082
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Neonatal Lupus Erythematosus
Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Spl... ORPHA:398124
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... OMIM:232400
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... OMIM:212140
Combined Saposin Deficiency
Splenomegaly, Abnormal glycosphingolipid metabolism, Hepatomegaly OMIM:611721
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia OMIM:610539
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly OMIM:269840
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circul... OMIM:300635
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin resistance, Hepa... ORPHA:79085
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa... ORPHA:209902
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Hypoglycemic seizures, Incr... ORPHA:293964
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperglycinuria, Hepatic steatosis OMIM:201450
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoa... OMIM:619013
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferas... OMIM:256810
Hemophagocytic Syndrome Associated With An Infection
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circul... ORPHA:158048
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hyper... OMIM:618641
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Diabetes mellitus OMIM:608320
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Insulin resistance, Hyperinsulinemia, Cirrhosis, Hepatic stea... ORPHA:363400
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Elevated circul... OMIM:619644
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... ORPHA:42
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Aggressive Systemic Mastocytosis
Pancytopenia, Portal hypertension, Hematological neoplasm, Hypersplenism, Thrombocytopenia, Leuko... ORPHA:98850
Sandhoff Disease
Splenomegaly, Abnormal glycosphingolipid metabolism, Hepatomegaly ORPHA:796
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... ORPHA:79303
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin... ORPHA:540
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Hepatomegaly, Increased muscle lipid content, Increased muscle glycogen content, Abnormality of t... ORPHA:254864
Fanconi Anemia, Complementation Group G
Myelodysplasia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:614082
Congenital Macroglossia
Neurofibroma, Abnormal hepatic glycogen storage ORPHA:2430
Congenital Bile Acid Synthesis Defect Type 1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... ORPHA:79301
Neonatal Alloimmune Neutropenia
Jaundice, Neutropenia in presence of anti-neutropil antibodies, Maternal diabetes ORPHA:464370
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Fetal ascites, Hepatomegaly OMIM:619462
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Dia... ORPHA:101330
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomegaly, Microvesicular hepat... OMIM:618278
Citrullinemia Type Ii
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... ORPHA:247585
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphoma, Hypocalcemia, Ascites, Anemia ORPHA:100025
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circu... OMIM:300972
Congenital Enterovirus Infection
Abnormal macrophage morphology, Fetal ascites, Thrombocytopenia, Leukocytosis, Hepatitis, Hyperam... ORPHA:292
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, ... ORPHA:567983
Leigh Syndrome
Hepatocellular necrosis OMIM:256000
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Maternal diabetes, Splenomegaly, Insulin r... ORPHA:79083
Propionic Acidemia
Hepatomegaly, Hypoglycemia, Hyperammonemia ORPHA:35
Methylmalonic Aciduria, Cblb Type
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycin... OMIM:251110
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Jaundice, Elevated circulating aspartate aminotransferase concentration OMIM:614876
Mitochondrial Myopathy, Infantile, Transient
Increased serum pyruvate, Hepatomegaly, Elevated circulating creatine kinase concentration, Incre... OMIM:500009
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly ORPHA:2432
Galactose Mutarotase Deficiency
Hepatomegaly, Hypergalactosemia, Cholestasis, Decreased liver function ORPHA:570422
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia, Prolonged neonatal jaundice OMIM:262400
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Insulin r... ORPHA:435660
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Insulin res... OMIM:615381
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... ORPHA:905
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Hyperinsulinemia, Hypoglycemic seizures, Decreased circulating free fatty acid leve... ORPHA:276575
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, B-cell lymphoma, Splenomegaly, Lymphoma, Breast carcinoma ORPHA:86893
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Reactive hypoglycemia, Hypoglycemic seizures, Decreased circulating free fatty acid... ORPHA:276556
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Sarcoma, Hepatomegaly ORPHA:66661
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Hypoketotic hypoglycemi... ORPHA:276580
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Hypercholesterolemia, Incr... OMIM:620211
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614582
Isolated Polycystic Liver Disease
Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Increased total bilirubin ORPHA:2924
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... OMIM:212138
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Paten... OMIM:277380
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm... OMIM:150550
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Ascites, Increased total bilirubin ORPHA:890
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... ORPHA:412
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... ORPHA:169154
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... OMIM:614300
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Hepatocellular ca... OMIM:232220
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Hypercalcemia, Hemangiomatosis, Visceral angiomatosis, Patent ductus arteriosus, An... ORPHA:2123
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lym... OMIM:613011
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly OMIM:610293
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... OMIM:615234
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Chronic hepatitis due to cryptosporidium infection, Au... ORPHA:572
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hypoglycemia OMIM:601820
Chylomicron Retention Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Acanthocytosis, Steatorrhea, Hypocholesterol... ORPHA:71
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614727
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Po... OMIM:602347
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal... ORPHA:1414
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis OMIM:618234
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hepatic steatosis, Pancr... ORPHA:435651
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Immunodeficiency 67
Liver abscess, Transient neutropenia OMIM:607676
Mitochondrial Pyruvate Carrier Deficiency
Increased serum pyruvate, Hepatomegaly, Hypoglycemia OMIM:614741
Glutathione Synthetase Deficiency
Hemolytic anemia, Increased level of L-pyroglutamic acid in urine, Neutropenia OMIM:266130
Vitamin B12-Responsive Methylmalonic Acidemia
Anemia, Hepatomegaly, Hyperammonemia ORPHA:28
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
Galactosemia I
Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, El... OMIM:230400
Hemochromatosis, Type 2A
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Increased serum iron, C... OMIM:602390
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Interstitial Lung And Liver Disease
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615486
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Myocardial nec... OMIM:260400
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Splenomegaly, Portal hypertension, Hepatomegaly OMIM:617068
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Nonketotic hypoglycemia, Elevated circulati... ORPHA:99901
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegal... OMIM:601859
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,... OMIM:607765
Methylcobalamin Deficiency Type Cble
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Abnormality of the liver... ORPHA:2169
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure OMIM:616719
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Abnorm... ORPHA:98907
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Microcytic anemia, Highly eleva... OMIM:251900
Immunodeficiency, Common Variable, 1
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... OMIM:607594
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:616433
Aicardi-Goutieres Syndrome 6
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly OMIM:615010
Dihydrolipoamide Dehydrogenase Deficiency
Increased serum pyruvate, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Decreased li... OMIM:246900
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Anemia, Increased mean corpuscular volume, ... OMIM:619041
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatic ... ORPHA:2348
Hyperlipoproteinemia, Type I
Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati... OMIM:238600
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Splenomegaly, Hyperammonemia, Aminoaciduria, Hepatic failure ORPHA:664
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Astrocytoma, Insulin resistance, Insulin-... ORPHA:79086
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin con... OMIM:618892
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Hepatitis, Anemia, Coombs-positive hemolytic anemia, N... OMIM:304790
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... ORPHA:507
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Single lineage myelodysplasia, Anemia of inadequate product... ORPHA:98826
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Myelodysplasia, Neutropenia OMIM:610738
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:617093
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Infection associated neutropenia, Neutropenia, Hepatic steatosis, ... ORPHA:445038
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Type I diabetes melli... OMIM:618549
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Mulibrey Nanism
Hepatomegaly ORPHA:2576
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Splenomegaly, Microcytic anemia OMIM:618852
Liver Failure, Infantile, Transient
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... OMIM:613070
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Pyruvate Carboxylase Deficiency
Increased serum pyruvate, Hyperalaninemia, Hypoglycemia, Hepatomegaly OMIM:266150
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating creatine kinase concentration, ... ORPHA:369840
Mu-Heavy Chain Disease
Splenomegaly, Abnormal B cell count, Anemia, Hepatomegaly ORPHA:100024
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hype... OMIM:608600
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Hepatitis, Anemia, Neoplasm, Hypocalcemia, Neutropenia, Th... ORPHA:47
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... OMIM:151660
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycin... OMIM:251100
Hepatoportal Sclerosis
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Hy... ORPHA:64743
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Transcobalamin Ii Deficiency
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia OMIM:275350
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... OMIM:619849
Letterer-Siwe Disease
Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia OMIM:246400
Bile Acid Conjugation Defect 1
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:619232
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly OMIM:616622
Fanconi-Bickel Syndrome
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Elevated circulating aspartate aminotransf... ORPHA:2088
Glycogen Storage Disease Ic
Hepatomegaly, Hypoglycemia, Cyclic neutropenia, Chronic pancreatitis, Hyperlipidemia, Xanthelasma... OMIM:232240
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... OMIM:619463
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Leukopenia, Hepatomegaly, Abnormal circulating serine co... ORPHA:470
Felty Syndrome
Hepatomegaly, Splenomegaly, Lymphoma, Anemia, Neutropenia, Abnormal lymphocyte morphology, Thromb... ORPHA:47612
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent... OMIM:601847
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Macrocephaly-Intellectual Disability-Autism Syndrome
Hurthle cell thyroid adenoma, Multiple lipomas, Hepatic steatosis, Thyroid carcinoma ORPHA:210548
Seckel Syndrome 10
Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, Elevated ci... OMIM:617253
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Leukopenia, Neutropenia, Pancreatic hy... ORPHA:811
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibro... OMIM:557000
Cog7-Cdg
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:79333
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Anemia, Leukopenia, Hypoalbuminemia, Macrov... OMIM:617303
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int... OMIM:243300
Necrotizing Enterocolitis
Hyponatremia, Leukocytosis, Peritonitis, Abnormal glucose homeostasis, Neutropenia, Hyperglycemia... ORPHA:391673
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Hepatomegaly, Splenomegaly, Hepatitis, Chronic hepatitis, Sclerosing cholangiti... OMIM:308230
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Myelodysplasia, Lymphoma, Leukopenia, Monocytosis OMIM:616871
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Leukopenia, Hepatic fibrosis, Neutropenia, Thrombocytopenia OMIM:613989
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperuricemia, Fasting hypoglycemia, H... ORPHA:348
Coproporphyria, Hereditary
Splenomegaly, Jaundice, Hepatomegaly OMIM:121300
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Cardiomegaly, Splenomegaly, Incre... OMIM:235200
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice... OMIM:214500
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C... ORPHA:54251
Aicardi-Goutieres Syndrome 4
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thro... OMIM:610333
Folate Malabsorption, Hereditary
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:229050
Familial Chylomicronemia Syndrome
Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Perianal abscess, Hyperlipidemia, Ja... ORPHA:444490
Dubin-Johnson Syndrome
Hepatomegaly, Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality, Abnormality of ... ORPHA:234
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, Conjugated hyperbilirubinemia, Mic... OMIM:617156
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, Decreased seru... ORPHA:541423
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Biliary tract abnormality, Cholangitis, Neutropenia OMIM:209920
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Lymphoproliferative disorder, Splenomegaly, Lymphoma... OMIM:615122
Bardet-Biedl Syndrome 19
Patent ductus arteriosus, Hepatic steatosis OMIM:615996
Indolent Systemic Mastocytosis
Hepatomegaly, Hematological neoplasm, Splenomegaly, Increased proportion of CD25+ mast cells, Mas... ORPHA:98848
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hypoglycemia, Microvesicular hepatic steatosis, Hepatic failure, T... OMIM:611126
Mitochondrial Complex I Deficiency, Nuclear Type 3
Hepatomegaly OMIM:618224
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... OMIM:210250
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hy... OMIM:235555
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Thrombocytopenia, Hyperammonemia, Leukopenia, Pancreatitis, Anemia ORPHA:27
Methylmalonic Acidemia With Homocystinuria Type Cblf
Hypomethioninemia, Megaloblastic anemia, Elevated circulating palmitoleylcarnitine concentration,... ORPHA:79284
Agammaglobulinemia 10, Autosomal Dominant
Type I diabetes mellitus, Transient neutropenia, Absent circulating B cells OMIM:619707
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Jaundice, Anemia, Ascites, Thrombocyto... ORPHA:858
Amyloidosis, Familial Visceral
Splenomegaly, Cholestasis, Hepatomegaly OMIM:105200
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Neutropenia, Thrombocytopenia OMIM:598500
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Diabetes mellitus, Anemia ... ORPHA:231222
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hepatomegaly, Steatorrhea, Neutropenia, Hyperechogenic pancreas, Thrombocytope... OMIM:617941
Autosomal Agammaglobulinemia
Verrucae, Hepatitis, Neutropenia ORPHA:33110
Babesiosis
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Leukopenia, Hepatic failure, Thrombocytop... ORPHA:108
Classic Mycosis Fungoides
Hepatomegaly, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Neoplasm of the skin, Abnormal l... ORPHA:2584
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Schnitzler Syndrome
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphoma, Anemia ORPHA:37748
Whim Syndrome 1
Verrucae, Neutropenia OMIM:193670
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis OMIM:275630
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Chronic neutropenia, Hyperlipidemia, Hepatocell... ORPHA:79259
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... ORPHA:848
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated hepatic transaminase, Hepatomegaly, Nonketotic hypoglycemia, Hypoglycemia, Elevated circ... OMIM:608836
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... OMIM:267700
Pyruvate Dehydrogenase E3 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating branched chain amino acid conce... ORPHA:2394
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Decreased liver function OMIM:614870
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotr... OMIM:614921
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Bile Acid Malabsorption, Primary, 2
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619481
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Hepatomegaly ORPHA:2204
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Myelodysplasia, Acute lymphoblastic leukem... ORPHA:486
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Neonatal hypoglycemia, Spleno... OMIM:619418
Gaucher Disease Type 2
Splenomegaly, Hepatomegaly ORPHA:77260
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes, ... OMIM:269920
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Splenomegaly, Leukopenia, Lymphopenia, Hepatomegaly OMIM:620210
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Increased serum pyruvate, Elevated hepatic transaminase, Hypoglycemia, Hyperammonemia, Elevated c... OMIM:615160
3-Methylglutaconic Aciduria, Type Viib
Thrombocytopenia, Leukopenia, Neutropenia, Hepatic steatosis, Neonatal hypoglycemia OMIM:616271
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloprolife... ORPHA:3226
Transcobalamin Deficiency
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia ORPHA:859
Dpm1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:79322
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Steatorrhea, Hepatic failure, Anemia ORPHA:75233
Congenital Disorder Of Glycosylation, Type Ik
Splenomegaly, Hepatomegaly OMIM:608540
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly OMIM:615085
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... ORPHA:228308
Leber Congenital Amaurosis 1
Hepatomegaly, Hyperthreoninemia, Hyperthreoninuria OMIM:204000
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Refractory anemia with ringed sideroblasts, Redu... OMIM:619523
Hypermanganesemia With Dystonia 1
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa... OMIM:613280
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... OMIM:619375
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Acute hepatitis, Splenomegaly, Fulminant hepatiti... ORPHA:2137
Lysosomal Acid Lipase Deficiency
Hyponatremia, Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia... ORPHA:275761
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Pelvic mass, Soft tissue neoplasm, Vaginal neoplasm... ORPHA:2126
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatic failure, Hepatitis ORPHA:60
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Splenomegaly, Neutropenia OMIM:617050
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia OMIM:617056
Analbuminemia
Patent ductus arteriosus, Elevated circulating transferrin concentration, Increased LDL cholester... OMIM:616000
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia, Absent circulating B cells, Abnormal T cell morphology OMIM:613501
Acute Generalized Exanthematous Pustulosis
Elevated hepatic transaminase, Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Neutropenia ORPHA:293173
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Sepsis In Premature Infants
Hepatomegaly, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos... ORPHA:90051
Relapsing Fever
Elevated hepatic transaminase, Neutrophilia, Elevated circulating C-reactive protein concentratio... ORPHA:91547
Acute Liver Failure
Elevated hepatic transaminase, Hypoglycemia, Jaundice, Hepatitis, Hepatic necrosis, Hyperammonemi... ORPHA:90062
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Hypomethioninemia, Patent ductus arteriosus, Hyperhomocystinemia, Normoch... OMIM:614857
Mpi-Cdg
Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hepatic fibrosis, Decreased liver function, H... ORPHA:79319
Gaucher Disease, Type Iii
Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatomegaly OMIM:231000
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Transient hyperlipidemia, Hepatic failure ORPHA:156
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protei... ORPHA:829
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Hepatomegaly, Ascites ORPHA:2198
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hepatic steatosis, Decreased liver function ORPHA:70472
Cholestasis, Progressive Familial Intrahepatic, 5
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:617049
Fish-Eye Disease
Splenomegaly, Decreased HDL cholesterol concentration, Hepatomegaly ORPHA:79292
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, Decreased liver function, Thrombocytopenia ORPHA:67048
Ddost-Cdg
Elevated hepatic transaminase, Hepatic steatosis ORPHA:300536
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundi... OMIM:194380
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... OMIM:615595
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl... OMIM:211600
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia OMIM:616949
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegal... OMIM:603909
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... OMIM:615952
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating fatty-acid concentration, Hyper... ORPHA:263455
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Aminoaciduria, Hypoalbu... OMIM:277900
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Hypoplasia of the ... OMIM:300400
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... OMIM:613327
3-Methylglutaconic Aciduria, Type V
Normochromic microcytic anemia, Microvesicular hepatic steatosis, Elevated circulating alanine am... OMIM:610198
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Acute hyperammonemia, Hypoglycemia OMIM:210200
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Ovar... ORPHA:83469
Evans Syndrome
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Jaundice, Auto... ORPHA:1959
Combined Oxidative Phosphorylation Deficiency 1
Fulminant hepatic failure, Hepatomegaly, Cholestasis OMIM:609060
Maternal Uniparental Disomy Of Chromosome 1
Type I diabetes mellitus, Hepatomegaly, Pancytopenia ORPHA:251009
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Leukopenia, Ascites,... ORPHA:381
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Steatorrhea, Exocrine panc... OMIM:612714
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia OMIM:615214
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis ORPHA:59303
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Cholelithiasis OMIM:605479
Immunodeficiency 54
Splenomegaly, Reduced natural killer cell count, Lymphoproliferative disorder, Hepatomegaly OMIM:609981
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... ORPHA:53035
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Anemia OMIM:612840
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Splenomegaly, Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio, Hepatomegaly OMIM:618495
Cardiomyopathy, Familial Restrictive, 6
Hepatomegaly, Ascites, Portal vein hypoplasia OMIM:619433
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Gaisböck Syndrome
Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Increased mean corpuscular hemoglobin conc... ORPHA:90041
Pearson Syndrome
Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatome... ORPHA:699
Immunodeficiency 46
Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytop... OMIM:612541
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, El... OMIM:614034
Autoinflammatory Disease, Systemic, X-Linked
Neutropenia, B lymphocytopenia, Hepatosplenomegaly OMIM:301081
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Hepatomegaly, Elevated circulating creatine kinase concentration OMIM:615704
Specific Granule Deficiency 2
Absent neutrophil specific granules, Myelodysplasia, Anemia, Neutropenia, Thrombocytopenia OMIM:617475
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Nonketotic hypoglycemia, Leukocy... ORPHA:20
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Macrovesicular hepatic steatosis, Cirrhosis, Hyperalaninemia, Anemia ORPHA:298
Immunodeficiency, Common Variable, 6
Hepatomegaly, Enlarged kidney, Autoimmune thrombocytopenia OMIM:613496
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Hepatospleno... OMIM:608233
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Portal hyperte... OMIM:619487
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hepatic steatosis, Elevated circulating creatine kinase concentration ORPHA:52430
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Hyperprolinemia, Hyperalaninemia OMIM:619064
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Increased circulating very long-chain fatty acid concentration OMIM:614859
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Aminoaciduria, Decreased liver function, Glycosuria, Diffuse hepatic steatosis, Anemia ORPHA:436271
Agammaglobulinemia 4, Autosomal Recessive
Neutropenia, Abnormal T cell morphology OMIM:613502
Congenital Disorder Of Glycosylation, Type Iij
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic failure OMIM:613489
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated hepatic transaminase, Sideroblastic anemia, Hepatomegaly OMIM:613561
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Patent ductus arteriosus, Elevated circulating creatinine concentration, Cholestasi... OMIM:608104
Alstrom Syndrome
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Chronic act... OMIM:203800
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Anemia, Hepatomegaly OMIM:618107
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Leukopenia, Hepatic hemangioma, Microangiopathic hemolytic ane... ORPHA:2330
Chédiak-Higashi Syndrome
Hyponatremia, Abnormal leukocyte morphology, Pancytopenia, Hypertriglyceridemia, Elevated hepatic... ORPHA:167
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Pfapa Syndrome
Splenomegaly, Hepatomegaly ORPHA:42642
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Methioninuria, Hyperhomocystinemia, Hypermethioninemia, Homocystinuria, Pancre... OMIM:236200
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Cholestasis, Hypokalemia, Portal fibrosis, Hepatic fibrosis, In... OMIM:619377
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Elevated hepatic transaminase, In... OMIM:603553
Dengue Fever
Hepatomegaly, Leukopenia, Ascites, Hypoproteinemia, Thrombocytopenia ORPHA:99828
Congenital Rubella Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Patent ductus arteriosus, Anemia, Type I diabetes mellitus,... ORPHA:290
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Hematological neop... ORPHA:824
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... ORPHA:436159
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hepatomegaly, Impaired glucose tolerance, Hyperlipidemia, Insulin-resistant diabetes ... OMIM:248370
Aspergillosis
Hepatitis, Eosinophilia, Hematological neoplasm, Neutropenia ORPHA:1163
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypoglycemia, Hyperammonemia, Neutropenia OMIM:618253
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypouricemia, Hypoglycemia, Glyco... OMIM:616026
Intellectual Developmental Disorder, Autosomal Recessive 41
Splenomegaly, Hepatomegaly OMIM:615637
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Elevated hepatic transaminase, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenome... ORPHA:37042
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatomegaly, Hepatic cysts OMIM:617004
Farber Lipogranulomatosis
Splenomegaly, Lipogranulomatosis, Hepatomegaly OMIM:228000
Abetalipoproteinemia
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Reticulocytosis, Hepatome... ORPHA:14
Caroli Syndrome
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... ORPHA:480520
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Steatorrhea, Hyperinsulinemic hypogly... OMIM:602579
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Impaired glucose tolerance, Splenomegaly, Cholestasis, Glucose intolerance, Hepatic... OMIM:615630
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Peritonitis, Decreased eosinophil count, Lymphopenia, Tooth... ORPHA:2686
Schimke Immuno-Osseous Dysplasia
Non-Hodgkin lymphoma, Lymphoproliferative disorder, Thrombocytopenia, Hyperlipidemia, Decreased p... ORPHA:1830
Bone Marrow Failure Syndrome 6
Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo... OMIM:618849
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia ... OMIM:603554
Combined Oxidative Phosphorylation Deficiency 47
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia OMIM:618958
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Hepatomegaly, Transient aminoaciduria, Hypoglycemia, Jaundice, Bic... OMIM:229600
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Very long c... ORPHA:98908
Adrenomyodystrophy
Hepatic steatosis ORPHA:977
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Activated Pi3K-Delta Syndrome
Splenomegaly, Lymphoma, B lymphocytopenia, Hepatomegaly ORPHA:397596
Fusariosis
Brain abscess, Lung abscess, Hematological neoplasm, Abnormality of the spleen, Peritonitis, Abno... ORPHA:228119
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia OMIM:611490
Peroxisome Biogenesis Disorder 7A (Zellweger)
Hepatomegaly, Jaundice, Elevated circulating tetracosanoic acid concentration, Elevated circulati... OMIM:614872
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Elevated circulating alpha-fetoprotein concentration, Neutropenia OMIM:617243
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, S... OMIM:224120
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Abnormal muscle glycogen conten... ORPHA:367
Hyperlipoproteinemia, Type Id
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... OMIM:615947
Retinitis Pigmentosa 59
Elevated hepatic transaminase, Hepatomegaly OMIM:613861
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, Chronic neutropenia, Aut... OMIM:614700
Peroxisome Biogenesis Disorder 3B
Hepatomegaly, Very long chain fatty acid accumulation, Elevated circulating phytanic acid concent... OMIM:266510
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating li... ORPHA:567548
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia OMIM:606843
Niemann-Pick Disease, Type A
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel... OMIM:257200
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Hypoglycemia, Hyperammonemia, Hyperuricemia, Anemia OMIM:246450
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Maturity-onset diabetes of the young ORPHA:254531
Immunodeficiency, Common Variable, 2
Splenomegaly, Neoplasm, Lymphoma, Hepatomegaly OMIM:240500
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614924
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Poikiloderma With Neutropenia
Splenomegaly, Leukopenia, Elevated circulating creatine kinase concentration, Neutropenia OMIM:604173
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Hypertriglyceridemia... OMIM:619573
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Hypoglycemia, Hypoalbuminemia, Macrovesicular hepatic steatosis, D... OMIM:618329
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Myelodysplas... ORPHA:98849
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,... OMIM:613404
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Acute hepatic failure, Pancytopenia, Cholangitis, Portal hypertension, Hypersplenism, Neutropenia... ORPHA:228426
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated hepatic transaminase, Neoplasm of the pancreas, Microcytic anemia, Insulin-resistant dia... ORPHA:2959
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hypochromic microcytic anemia, N... ORPHA:66634
Combined Oxidative Phosphorylation Deficiency 36
Hyperalaninemia, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Eleva... OMIM:617950
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly ORPHA:163596
Mcleod Syndrome
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... OMIM:300842
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia ORPHA:2643
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Th... OMIM:613839
Myopathy With Extrapyramidal Signs
Extremely elevated creatine kinase, Hepatomegaly, Elevated hepatic transaminase, Elevated circula... OMIM:615673
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... OMIM:214950
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Budd-Chiari Syndrome
Elevated hepatic transaminase, Acute hepatic failure, Hepatomegaly, Portal hypertension, Splenome... ORPHA:131
Acth Deficiency, Isolated
Jaundice, Decreased circulating cortisol level, Fasting hypoglycemia, Cholestasis OMIM:201400
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Diabetes m... OMIM:608594
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Macrothrombocytopenia, Thrombocytopenia, Neutropenia OMIM:603585
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Elevated circulating C-reactive protein concentration, Hepatomegaly ORPHA:85414
Sialidosis Type 2
Splenomegaly, Ascites, Hepatomegaly ORPHA:87876
Sézary Syndrome
Hepatomegaly, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Neoplasm of the skin, Abnormal l... ORPHA:3162
Immunodeficiency 92
Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S... OMIM:619652
Neuraminidase Deficiency
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Ascites OMIM:256550
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia, Cholangitis, Elevated circulating C-reactive protein concentration OMIM:614204
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, S... ORPHA:280365
B4Galt1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:79332
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h... OMIM:269700
Laron Syndrome
Hypercholesterolemia, Hypoglycemia ORPHA:633
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipidemia, Pitui... ORPHA:189427
Hurler-Scheie Syndrome
Splenomegaly, Hepatomegaly ORPHA:93476
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Aminoaciduria, Decreased liver function, Increased intramyocellular lipid droplets,... OMIM:220110
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Splenomegaly, Micronodular cirrhosis, Patent ductus arteriosus, Hepat... OMIM:606003
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cholelithias... OMIM:611881
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618835
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Anemia, Hepatomegaly OMIM:620296
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618839
Cinca Syndrome
Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ... ORPHA:1451
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Hyperammonemia, Hyperornithinemia, Decreased liver function, Acute hepatitis, Homoc... OMIM:238970
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Hepatic steatosis, Decreased liver function OMIM:614922
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim... ORPHA:331206
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Steatorrhea, Hypoalbuminemia, Hepatic fibrosis, Hypo... OMIM:212065
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Pe... OMIM:617052
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Lymphoproliferative disorder, Hodgkin lymphoma, Neutropenia, Lymphop... OMIM:614868
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami... OMIM:615558
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Hypouricemia, Increased circulating guanosine concentration, Pure re... OMIM:613179
Combined Oxidative Phosphorylation Deficiency 14
Copper accumulation in liver, Anemia, Aminoaciduria, Elevated hepatic iron concentration, Increas... OMIM:614946
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... OMIM:169400
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Eosinophilia, Absces... ORPHA:400
Classic Hodgkin Lymphoma
Splenomegaly, Neoplasm, Lymphoma, Hepatomegaly ORPHA:391
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cholestatic liver disease, Hypoglycemia, Hypoketotic hypoglycemia ORPHA:5
Cold Agglutinin Disease
Splenomegaly, Hemolytic anemia, Hepatomegaly ORPHA:56425
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Portal hypertension, Cardiomegaly, Hepatocel... ORPHA:465508
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Maturity-onset diabetes of the young OMIM:616222
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia ORPHA:85212
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating acylcarnitine concentration, Hy... ORPHA:159
Developmental And Epileptic Encephalopathy 66
Anemia, Neutropenia OMIM:618067
Acquired Aneurysmal Subarachnoid Hemorrhage
Left ventricular hypertrophy, Hypercholesterolemia, Leukocytosis, Hyperglycemia ORPHA:90065
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Elevated hepatic transaminase, Hyperalaninemia, Hyperammonemia, Neutropenia OMIM:615471
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count OMIM:615592
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Jaundice, Elevated circulatin... OMIM:613095
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Neutrophilia, Abscess, Elevated circulating C-reactive protein concentration, Splen... OMIM:612852
Meckel Syndrome, Type 3
Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate OMIM:607361
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... OMIM:617388
Infantile Liver Failure Syndrome 2
Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Hyperammonemia OMIM:616483
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Pulmonary carcinoid tumor, Abnormal intrahepatic bile duct morphology, Papi... ORPHA:363618
Mitochondrial Trifunctional Protein Deficiency
Cholestasis, Hypocalcemia, Left ventricular hypertrophy, Diffuse hepatic steatosis, Chronic hepat... ORPHA:746
Hyperzincemia With Functional Zinc Depletion
Increased serum zinc, Hepatomegaly OMIM:601979
Autoimmune Lymphoproliferative Syndrome
Hepatocellular carcinoma, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated prop... ORPHA:3261
Bloom Syndrome
Elevated hemoglobin A1c, Lymphoma, Squamous cell carcinoma, Type II diabetes mellitus, Leukemia, ... OMIM:210900
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hepatomegaly, Aminoaciduria, Anisocytosis OMIM:604273
Trichothiodystrophy 3, Photosensitive
Abdominal adhesions, Lymphopenia, Neoplasm of the skin, Neutropenia OMIM:616395
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Abnormality of the spleen, Abnormality of the liver, Myeloproliferative disorder, L... ORPHA:79456
Tyrosinemia, Type I
Hypertyrosinemia, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemi... OMIM:276700
Lig4 Syndrome
Hepatomegaly, Pancytopenia, Leukocytosis, Lymphoma, Acute leukemia, Type II diabetes mellitus ORPHA:99812
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Leukopenia, Glucose intolerance, Hypoalbuminemia, Fasting hypoglycemia,... ORPHA:2298
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia OMIM:616738
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Fetal ascit... OMIM:261515
Omenn Syndrome
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphoma, Abnormal lymphocyte morphology,... ORPHA:39041
Combined Oxidative Phosphorylation Deficiency 53
Hepatomegaly, Hypochromic microcytic anemia, Elevated circulating C-reactive protein concentration OMIM:619423
Pleural Mesothelioma
Hepatomegaly ORPHA:50251
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells, Lymphoproliferative disorder, J... ORPHA:276
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, Cholangitis, Microvesicular hepati... OMIM:124000
Congenital Pulmonary Lymphangiectasia
Splenomegaly, Ascites, Hepatomegaly ORPHA:2414
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... ORPHA:822
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Hepatic fibrosis, Steatorrhea, Hepatic stea... OMIM:616263
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Atretic... ORPHA:30391
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase c... OMIM:614576
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Hypocalcemia, Lymphocytosis, Elevat... OMIM:619991
Monosomy 13Q34
Insulin resistance, Hepatic steatosis, Hypercalcemia ORPHA:96168
Slc35A1-Cdg
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia ORPHA:238459
Congenital Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hepatitis, Hypoglycemic seizure... ORPHA:199296
Trichohepatoenteric Syndrome 2
Hepatomegaly, Cirrhosis, Decreased serum iron, Chronic hepatitis OMIM:614602
Classic Galactosemia
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Abnormal erythrocyte enzyme level, Jau... ORPHA:79239
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Aredyld Syndrome
Hepatomegaly, Splenomegaly, Refractory anemia with ringed sideroblasts, Type II diabetes mellitus... ORPHA:1133
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... ORPHA:309854
Argininemia
Hepatomegaly, Micronodular cirrhosis, Cholestasis, Hyperammonemia, Diaminoaciduria, Portal fibros... OMIM:207800
Free Sialic Acid Storage Disease
Splenomegaly, Ascites, Hepatomegaly ORPHA:834
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce... OMIM:619705
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H... OMIM:607626
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... OMIM:603903
Infantile Refsum Disease
Hepatomegaly, Very long chain fatty acid accumulation, Elevated circulating phytanic acid concent... ORPHA:772
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Cirrhosis, Ascites, ... ORPHA:77259
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Diabetes mellitus, Hyperuricemia ORPHA:77296
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Anemia, Lymphope... OMIM:617591
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Ascites, Hypoproteinemia, ... OMIM:226300
Niemann-Pick Disease, Type C1
Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Bone-marrow foam cells, Splenomegaly... OMIM:257220
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re... ORPHA:2457
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis, Hyperammonemia OMIM:616672
Pgm3-Cdg
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... ORPHA:443811
19P13.12 Microdeletion Syndrome
Hyperlipidemia, Hepatic steatosis ORPHA:254346
Cimdag Syndrome
Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly OMIM:619273
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... ORPHA:157
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hype... ORPHA:79124
Kikuchi-Fujimoto Disease
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating C-reactive protein concentratio... ORPHA:50918
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Pancytopenia, Hypoglycemia, Portal hypertension, Cholestasis, Hypo... OMIM:613658
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hypomethioninemia, Hypoglycemia, Megaloblastic anemia, Jaundice, Hyperamm... ORPHA:79282
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Aplasia of the thymus, Eosinophilia, Splenomegaly, B lymphocytopenia, Abnormally lo... OMIM:602450
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphopenia OMIM:616100
Pediatric-Onset Graves Disease
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Neutropenia in presence of a... ORPHA:525731
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, T lymphocytopenia, B lymphocytopenia, Neutropeni... OMIM:300755
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Diabetes mellitus, Jaundice, Aplasia/Hypoplasia of the pancreas, A... ORPHA:93111
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... OMIM:615415
Peroxisome Biogenesis Disorder 13A (Zellweger)
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:614887
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia OMIM:619752
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Diabetes mellitus, Elevated circulating creatine kinase concentration, Splenomegaly... ORPHA:565612
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Ele... ORPHA:100085
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:615895
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Xanthelasma, Hyperuric... OMIM:232200
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia OMIM:612527
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Hypoalbuminemia, Hepatic fibrosis, Neoplas... ORPHA:171
Fanconi-Bickel Syndrome
Hepatomegaly, Hypouricemia, Elevated circulating aspartate aminotransferase concentration, Intrah... OMIM:227810
Aromatase Deficiency
Enlarged polycystic ovaries, Hyperlipidemia, Insulin resistance, Type II diabetes mellitus, Hepat... ORPHA:91
Combined Oxidative Phosphorylation Deficiency 4
Hepatomegaly, Hyperammonemia OMIM:610678
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Multiple myeloma, Thrombocytopenia OMIM:230800
Cirrhotic Cardiomyopathy
Hepatomegaly, Increased circulating NT-proBNP concentration, Left ventricular hypertrophy, Cardio... ORPHA:57777
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly OMIM:613730
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Beta-Thalassemia Major
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:231214
Developmental And Epileptic Encephalopathy 102
Hepatomegaly OMIM:619881
Leigh Syndrome
Hypoglycemia, Generalized aminoaciduria, Neutropenia, Hyperalaninemia, Hepatic failure, Anemia ORPHA:506
Cronkhite-Canada Syndrome
Hepatomegaly, Splenomegaly, Hamartomatous polyposis, Neoplasm, Anemia ORPHA:2930
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Beta-Ketothiolase Deficiency
Hepatomegaly, Hypoglycemia, Leukocytosis, Hyperammonemia, Hyperuricemia, Thrombocytosis, Hypergly... ORPHA:134
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Elevated circulating creatine kin... OMIM:615356
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... OMIM:208540
Lysinuric Protein Intolerance
Hepatomegaly, Hypolysinemia, Increased circulating ferritin concentration, Thrombocytopenia, Sple... OMIM:222700
Peroxisome Biogenesis Disorder 4A (Zellweger)
Hepatomegaly, Increased circulating very long-chain fatty acid concentration OMIM:614862
Thoraco-Abdominal Enteric Duplication
Hepatomegaly ORPHA:1759
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Splenomegaly, Cardiomegaly OMIM:252920
Somatostatinoma
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Hypercalcemia, Intrahepatic cholestasi... ORPHA:97283
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia, Maturity-onset diabetes of the young ORPHA:96184
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Aminoaciduria, Hypophosphatemia, Anemia OMIM:239200
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Thrombocytopenia, Aminoaciduria, Anemia, Neutropenia OMIM:614520
Klatskin Tumor
Hepatomegaly, Jaundice, Cholangiocarcinoma, Extrahepatic cholestasis ORPHA:99978
Cryoglobulinemic Vasculitis
Splenomegaly, Abnormality of the liver, Viral hepatitis, Hepatomegaly ORPHA:91138
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618838
Cohen Syndrome
Leukopenia, Neutropenia OMIM:216550
Vipoma
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Hypercalcemia, Follicular thyroid carc... ORPHA:97282
Citrullinemia, Classic
Hepatomegaly, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Cirrhosis, Elevat... OMIM:215700
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Hepatomegaly ORPHA:50812
Familial Mediterranean Fever
Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, ... OMIM:249100
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Hypoglycemia OMIM:229700
Acute Promyelocytic Leukemia
Pancytopenia, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia ORPHA:520
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Thrombocytopenia OMIM:259700
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Oropharyngeal squamous cell carcinoma, Autoimmune thrombocytopenia, ... ORPHA:391487
Prolidase Deficiency
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Anemia... OMIM:170100
Reynolds Syndrome
Calcinosis, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Biliary cirrhosi... OMIM:613471
Typhoid
Splenomegaly, Hepatomegaly ORPHA:99745
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, Elevated hepati... OMIM:619355
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Hepatomegaly OMIM:618541
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Prol... ORPHA:90674
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly OMIM:619183
Klippel-Trénaunay Syndrome
Hepatomegaly, Microcytic anemia, Patent ductus arteriosus, Hemangioma, Ascites ORPHA:90308
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Diabetes mellitus, Increased circulating thyroglobulin level, Portal hypertension, ... OMIM:610199
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... ORPHA:101096
Cartilage-Hair Hypoplasia
Hepatomegaly, Abnormality of the pancreas, Hypocalcemia, Neutropenia, Anemia ORPHA:175
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Hepatomegaly, Increased circulating ferritin concentration, Splen... OMIM:615846
Fanconi Anemia, Complementation Group D2
Pancytopenia, Patent ductus arteriosus, Annular pancreas, Reticulocytopenia, Anemia, Neutropenia,... OMIM:227646
3-Methylglutaconic Aciduria, Type Viii
Patent ductus arteriosus, Jaundice, Neonatal hypoglycemia, Neutropenia OMIM:617248
Coach Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Abnormal abdomen ... OMIM:216360
Pseudo-Torch Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Patent ductus arteriosus, De... OMIM:251290
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Splenomegaly, Neoplasm, Thrombocytopenia ORPHA:169090
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly ORPHA:422
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Elevated circulating creatinine concentration OMIM:614376
Alagille Syndrome 1
Elevated hepatic transaminase, Hypertriglyceridemia, Hepatocellular carcinoma, Cholestasis, Reduc... OMIM:118450
Chronic Granulomatous Disease
Splenomegaly, Liver abscess, Abnormality of neutrophils, Hepatomegaly ORPHA:379
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Argininosuccinic Aciduria
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperglutaminemia, H... OMIM:207900
Glutaric Acidemia I
Elevated circulating glutaric acid concentration, Hypoglycemia, Hepatomegaly OMIM:231670
Histidinemia
Histidinuria, Hyperhistidinemia OMIM:235800
Pseudo-Torch Syndrome 2
Elevated hepatic transaminase, Hepatomegaly, Patent ductus arteriosus, Ascites, Thrombocytopenia OMIM:617397
Mucopolysaccharidosis, Type Iiia
Splenomegaly, Hepatomegaly OMIM:252900
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia, Type II diabetes mellitus ORPHA:401923
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalem... OMIM:608885
Toxic Epidermal Necrolysis
Acute hepatic failure, Elevated hepatic transaminase, Anemia, Neutropenia, Pancreatitis, Thromboc... ORPHA:537
Niemann-Pick Disease, Type C2
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Sea-blue histiocytos... OMIM:607625
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla... OMIM:250250
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Methylmalonic acidemia, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Patent ductus ... ORPHA:17
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia ORPHA:88
Macrocephaly/Autism Syndrome
Splenomegaly, Lymphopenia, Hepatomegaly OMIM:605309
Immunodeficiency 23
Hemolytic anemia, Eosinophilia, Abscess, Hodgkin lymphoma, Neutropenia, Lymphopenia OMIM:615816
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch... OMIM:615812
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Patent ductus arteriosus, Hypoglycemia, Neutropenia OMIM:618005
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:619525
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:26793
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Cystathioninuria, Hyperhomocysti... OMIM:277400
Sialuria
Elevated hepatic transaminase, Hepatomegaly, Cholelithiasis, Hepatosplenomegaly ORPHA:3166
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Schimke Immunoosseous Dysplasia
Pancytopenia, Abnormal T cell morphology, Anemia, Neutropenia, Lymphopenia, Thrombocytopenia OMIM:242900
Nodular Non-Suppurative Panniculitis
Splenomegaly, Hepatomegaly ORPHA:33577
Mitochondrial Trifunctional Protein Deficiency 2
Increased circulating NT-proBNP concentration, Hypoglycemia, Elevated circulating aspartate amino... OMIM:620300
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Hypocholesterolemia OMIM:618810
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Myelodysplasia, Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Neutropenia, ... ORPHA:508542
Barth Syndrome
Cyclic neutropenia, Granulocytopenia, Hypochromic microcytic anemia, Neutropenia OMIM:302060
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Iron deficiency anemia, Cardiomegaly, Hepatosplenomegaly ORPHA:99931
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Autoimmune thrombocy... ORPHA:77293
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Lymphoproliferative disorder, Elevated... OMIM:615688
Majeed Syndrome
Hepatomegaly, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Hypochromic microcytic a... ORPHA:77297
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Jaundice, Aminoaciduria, Hypoplasia of the thymus,... OMIM:214110
Peroxisome Biogenesis Disorder 1B
Hyperoxaluria, Hepatic fibrosis, Cirrhosis, Hepatomegaly OMIM:601539
Polycythemia Vera
Hepatomegaly, Portal hypertension, Myelodysplasia, Portal vein thrombosis, Splenomegaly, Acute le... ORPHA:729
Glycogen Storage Disease Ii
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... OMIM:232300
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:617713
Arima Syndrome
Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hepatic steatosis, Anemia OMIM:243910
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Type I diabetes mellitus, Hepatomegaly OMIM:560000
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Prolonged neonatal jaundice, Hypoglycemia, Decreased proportion of class-switched m... OMIM:233600
Bardet-Biedl Syndrome 20
Elevated hepatic transaminase, Hypercholesterolemia, Pancreatitis OMIM:619471
Rothmund-Thomson Syndrome Type 1
Calcinosis, Aplastic anemia, Myelodysplasia, Squamous cell carcinoma, Basal cell carcinoma, Melan... ORPHA:221008
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:819
3-Methylglutaconic Aciduria, Type Viia
Anisopoikilocytosis, Anemia, Neutropenia OMIM:619835
Rothmund-Thomson Syndrome
Calcinosis, Aplastic anemia, Myelodysplasia, Squamous cell carcinoma, Basal cell carcinoma, Melan... ORPHA:2909
Syndromic Diarrhea
Hepatomegaly, Increased mean platelet volume, Splenomegaly, Patent ductus arteriosus, Abnormality... ORPHA:84064
Fanconi Anemia, Complementation Group E
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:600901
Sarcoidosis, Susceptibility To, 2
Splenomegaly, Hepatomegaly OMIM:612387
Hereditary Fructose Intolerance
Hepatomegaly, Reactive hypoglycemia, Jaundice, Hypermagnesemia, Hyperuricemia, Hypophosphatemia, ... ORPHA:469
Mirage Syndrome
Hyponatremia, Hypoglycemia, Myelodysplasia, Thrombocytopenia, Patent ductus arteriosus, Hyperkale... OMIM:617053
Rothmund-Thomson Syndrome Type 2
Calcinosis, Aplastic anemia, Myelodysplasia, Lymphoma, Squamous cell carcinoma, Basal cell carcin... ORPHA:221016
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess OMIM:233710
Gm1-Gangliosidosis, Type Ii
Splenomegaly, Patent ductus arteriosus, Sea-blue histiocytosis, Hepatomegaly OMIM:230600
Glucagonoma
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Hypercalcemia, Acanthocytosis, Intrahe... ORPHA:97280
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... OMIM:263200
Aa Amyloidosis
Hepatomegaly, Enlarged kidney, Cholestasis ORPHA:85445
Diamond-Blackfan Anemia 11
Anemia of inadequate production, Neutropenia OMIM:614900
Scheie Syndrome
Splenomegaly, Hepatomegaly ORPHA:93474
Developmental Delay, Hypotonia, And Impaired Language
Neutropenia OMIM:620012
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Myelodysplasia, Erythroid hypoplasia, Reticulocyto... ORPHA:124
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenom... OMIM:259720
Tyrosinosis
Hypertyrosinemia OMIM:276800
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia, Laryngeal carcinoma, Carcinoma OMIM:610644
Fanconi Anemia, Complementation Group A
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:227650
Ppoma
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Abnormal abdomen... ORPHA:97278
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess OMIM:233690
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Elevated hepatic transaminase, Hepatomegaly, Nodular regenerative hyperplasia of liver, Splenomeg... ORPHA:404454
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Splenomegaly, Decreased serum zinc, Hepatomegaly OMIM:201100
Transketolase Deficiency
Type I diabetes mellitus, Hepatomegaly, Patent ductus arteriosus, Elevated circulating ribitol co... ORPHA:488618
Diamond-Blackfan Anemia 7
Patent ductus arteriosus, Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612562
Late-Onset Isolated Acth Deficiency
Hyponatremia, Normocytic anemia, Macrocytic anemia, Decreased circulating cortisol level, Hypogly... ORPHA:199299
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Hepatomegaly, Elevated circulating creatine kinase concentration OMIM:619424
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Azotemia, Leukocytosis, Hepatic steatosis OMIM:619321
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin... OMIM:102700
Reynolds Syndrome
Hepatomegaly, Jaundice, Ascites, Cirrhosis ORPHA:779
Vici Syndrome
Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, Leukopenia, T l... OMIM:242840
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevat... OMIM:608779
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hepatomegaly OMIM:619053
Aspartylglucosaminuria
Hepatomegaly, Aspartylglucosaminuria, Vacuolated lymphocytes, Neutropenia OMIM:208400
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Abscess, Peritonitis, Elevated circulating cr... ORPHA:36234
Oculoskeletodental Syndrome
Splenomegaly, Hypercalcemia, Hypocalcemia, Hepatomegaly OMIM:618440
American Trypanosomiasis
Splenomegaly, Hepatomegaly ORPHA:3386
Grfoma
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Neoplasm of the thymus, Intrahepatic chole... ORPHA:97261
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepatic fibrosis, Intrahepatic bile duct dilatati... OMIM:619534
Zygomycosis
Brain abscess, Diabetes mellitus, Hematological neoplasm, Peritonitis, Hepatitis, Neutropenia, Sp... ORPHA:73263
Fanconi Anemia, Complementation Group I
Neutropenia OMIM:609053
Gaucher Disease, Type Iiic
Splenomegaly, Pancytopenia, Cardiomegaly, Hepatomegaly OMIM:231005
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... OMIM:203700
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Myelodysplasia, Neutropenia OMIM:617827
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated hemoglobin A1c, Gluco... OMIM:619127
Fanconi Anemia, Complementation Group C
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:227645
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma OMIM:603776
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Congenital hepati... ORPHA:1454
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Hypocalcemia, Hepatic failure, Ascites, ... OMIM:235255
Shigellosis
Hyponatremia, Hypoglycemia, Abscess, Leukocytosis, Peritonitis, Abnormal blood ion concentration,... ORPHA:810
Familial Adenomatous Polyposis 1
Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor... OMIM:175100
Trichohepatoenteric Syndrome 1
Hepatomegaly, Increased mean platelet volume, Splenomegaly, Abnormality of the pancreas, Jaundice... OMIM:222470
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Lymphoma, ... ORPHA:906
Familial Adenomatous Polyposis
Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Angiofibromas, Papillary thyroid carcinoma, Ad... ORPHA:733
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Hepatosplenomegaly, Hypocalcemia, Hepati... ORPHA:1655
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Lymphoma, Leukemia, Mo... ORPHA:33226
Atypical Werner Syndrome
Renal neoplasm, Hypertriglyceridemia, Diabetes mellitus, Insulin-resistant diabetes mellitus, Fas... ORPHA:79474
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Enlarged kidney OMIM:200995
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma OMIM:144010
Joubert Syndrome 8
Hepatomegaly, Prolonged neonatal jaundice OMIM:612291
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Cholangiocarcinoma, Cholangitis, Portal hypertension, Hypersplenism, Splenomegaly, ... ORPHA:731
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Pancreatic islet cell adenoma, Hypercalcemia, Pituitary adenoma, Insulinoma, Increa... OMIM:131100
Biotinidase Deficiency
Splenomegaly, Hyperammonemia, Hepatomegaly OMIM:253260
Steinert Myotonic Dystrophy
Elevated hepatic transaminase, Endometrial carcinoma, Diabetes mellitus, Brain neoplasm, Choroida... ORPHA:273
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Al Amyloidosis
Hepatomegaly, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Abnormality of ... ORPHA:85443
Whim Syndrome
Abnormal neutrophil morphology, Papilloma, Cutaneous melanoma, Neutropenia, Cervix cancer, Lympho... ORPHA:51636
Familial Tumoral Calcinosis
Splenomegaly, Neoplasm of the skin, Hepatomegaly ORPHA:53715
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Jaundice, Hyperammonemia, Hyperprolinemia... OMIM:615751
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Granuloma, R... OMIM:306400
Staphylococcal Necrotizing Pneumonia
Diabetes mellitus, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocyto... ORPHA:36238
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... OMIM:614162
Gardner Syndrome
Neoplasm of the pancreas, Astrocytoma, Brain neoplasm, Adrenocortical carcinoma, Pilomatrixoma, M... ORPHA:79665
Hyper-Igd Syndrome
Neutrophilia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Renal angiomyolipoma OMIM:260920
Isolated Complex I Deficiency
Increased serum pyruvate, Hepatomegaly, Diabetes mellitus, Hypoglycemia ORPHA:2609
Neuroendocrine Tumor Of The Colon
Elevated hepatic transaminase, Hepatomegaly, Carcinoid tumor, Atypical pulmonary carcinoid tumor ORPHA:100080
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Endometrial carcinoma, Decreased circulating cortisol level, Hypoglycemia, Jaundice... ORPHA:90790
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatitis, Hepatosplenomegaly, Anemia,... ORPHA:781
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma OMIM:277460
Trichothiodystrophy
Squamous cell carcinoma, Increased mean corpuscular hemoglobin concentration, Anemia, Neutropenia ORPHA:33364
Spondyloenchondrodysplasia With Immune Dysregulation
T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Neutropenia OMIM:607944
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... OMIM:301068
Intellectual Developmental Disorder, Autosomal Dominant 68
Patent ductus arteriosus, Hepatic steatosis OMIM:619934
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... ORPHA:308552
Neuhauser Syndrome
Hypercholesterolemia OMIM:249310
Gaucher Disease, Type Ii
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly OMIM:230900
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating uroporphyrin concent... OMIM:263700
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Facial capillary hemangioma, Splenomegaly, Patent ductus arteriosus, Cholestatic li... OMIM:270400
Diamond-Blackfan Anemia 1
Macrocytic anemia, Myelodysplasia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence ... OMIM:105650
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Patent ductus arteriosus, Hep... OMIM:602782
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Abnormality of neutrophils, Thrombocyt... ORPHA:1775
Osteopetrosis, Autosomal Recessive 7
Anemia, Splenomegaly, Hypocalcemic seizures, Hepatomegaly OMIM:612301
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Microvesicular hepatic steatosis, Patent ductus arteriosus, Cirrhosis, Elevated hep... OMIM:300868
Neuroendocrine Neoplasm Of Appendix
Elevated hepatic transaminase, Hepatomegaly, Ileal adenocarcinoma, Ovarian neoplasm, Intestinal c... ORPHA:100079
Hermansky-Pudlak Syndrome
Basal cell carcinoma, Squamous cell carcinoma of the skin, Neutropenia ORPHA:79430
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Leukocytosis, Cholestasis OMIM:620233
Neuroendocrine Tumor Of Stomach
Elevated hepatic transaminase, Hepatomegaly, Iron deficiency anemia, Atypical pulmonary carcinoid... ORPHA:100075
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hepatitis, Hyperammonemia, Hyperornithinemia, Decrea... ORPHA:415
Khan-Khan-Katsanis Syndrome
Lymphopenia, Patent ductus arteriosus after premature birth, Anemia, Neutropenia OMIM:618460
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Impaired glucose tolerance, Insulin resistance, Glucose intolerance, Recurr... OMIM:606721
Herpes Simplex Virus Encephalitis
Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration ORPHA:1930
Cohen Syndrome
Neutropenia ORPHA:193
Marburg Hemorrhagic Fever
Elevated hepatic transaminase, Reticulocytosis, Lymphopenia, Hypoglycemia, Elevated circulating c... ORPHA:99826
Yellow Fever
Acute pancreatitis, Neutrophilia, Elevated circulating creatine kinase concentration, Elevated ci... ORPHA:99829
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration ORPHA:1302
Idiopathic Hypereosinophilic Syndrome
Elevated hepatic transaminase, Neutrophilia, Eosinophilia, Cholangitis, Myelodysplasia, Thrombocy... ORPHA:3260
X-Linked Intellectual Disability, Nascimento Type
Recurrent cutaneous abscess formation, Patent ductus arteriosus, Neonatal hyperbilirubinemia, Neu... ORPHA:163956
Beckwith-Wiedemann Syndrome
Hepatomegaly, Hypoglycemia, Nephroblastoma, Elevated circulating alpha-fetoprotein concentration,... ORPHA:116
Sweet Syndrome
Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Hema... ORPHA:3243
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Benign neoplasm of the central nervous system, Hypoammonemia, Anemia, Odontogenic n... ORPHA:534
Beckwith-Wiedemann Syndrome
Hepatomegaly, Neonatal hypoglycemia, Cardiomegaly, Adrenocortical carcinoma, Pancreatic hyperplas... OMIM:130650
Leprechaunism
Hepatomegaly, Enlarged ovaries, Insulin resistance, Hyperinsulinemia, Hypokalemia, Hyperaldostero... ORPHA:508
Brucellosis
Hepatomegaly, Liver abscess, Lung abscess, Elevated circulating C-reactive protein concentration,... ORPHA:1304
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Hepatic steatosis ORPHA:391665
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hamartomatous polyposis, Juvenile gastrointestinal polyposis, Hepatic arteriovenous malformation,... OMIM:175050
Cystic Fibrosis
Hepatomegaly, Biliary cirrhosis, Hepatosplenomegaly, Cirrhosis, Steatorrhea, Pancreatitis, Exocri... OMIM:219700
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Agammaglobulinemia 1, Autosomal Recessive
B lymphocytopenia, Rectal abscess, Neutropenia OMIM:601495
Leukocyte Adhesion Deficiency Type Ii
Hepatomegaly, Neutrophilia, Microcytic anemia, Leukocytosis, Anemia ORPHA:99843
Ogden Syndrome
Maternal diabetes, Cardiomegaly, Microvesicular hepatic steatosis, Jaundice, Patent ductus arteri... OMIM:300855
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Anemia, Leukopeni... ORPHA:2785
Selective Igm Deficiency
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o... ORPHA:331235
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia ORPHA:77261
Turner Syndrome Due To Structural X Chromosome Anomalies
Elevated hepatic transaminase, Hyperinsulinemia, Biliary cirrhosis, Glucose intolerance, Cholesta... ORPHA:99413
Mosaic Monosomy X
Elevated hepatic transaminase, Hyperinsulinemia, Biliary cirrhosis, Glucose intolerance, Cholesta... ORPHA:99228
Monosomy X
Elevated hepatic transaminase, Hyperinsulinemia, Biliary cirrhosis, Glucose intolerance, Cholesta... ORPHA:99226
Turner Syndrome
Elevated hepatic transaminase, Hyperinsulinemia, Biliary cirrhosis, Glucose intolerance, Cholesta... ORPHA:881
Intellectual Developmental Disorder, Autosomal Dominant 54
Neutropenia OMIM:617799
1P36 Deletion Syndrome
Abnormality of the spleen, Patent ductus arteriosus, Abnormality of the liver, Neuroblastoma, Ann... ORPHA:1606
Juvenile Polyposis Syndrome
Neoplasm of the pancreas, Brain abscess, Juvenile gastrointestinal polyposis, Juvenile colonic po... ORPHA:2929
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Pancytopenia, Neutrophilia, Acute pancreatitis, Elevated circulating creatine kinas... ORPHA:99827
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Nephroblastoma, Transient neutropenia, Chronic neutropenia, Enlarged kidney ORPHA:500095
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Elevated circulating C-... OMIM:617099
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypoglycemia, Microvesicular hepatic steatosis, Hyperammonemia, Hyperglycemia, Left ventricular h... OMIM:220111
Digeorge Syndrome
Splenomegaly, Patent ductus arteriosus, Anemia, Hypoplasia of the thymus, Hypocalcemia, Cholelith... OMIM:188400
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Elevated hepatic transaminase, Abnormal abdomen morphology, Jaundice, Neurofibroma, Hyperbilirubi... OMIM:619475
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Neutropenia OMIM:271510
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Elevated hepatic transaminase, Renal tubular epithelial necrosis, Anemia, Neutropenia ORPHA:95455
Ectodermal Dysplasia And Immunodeficiency 2
Splenomegaly, Hepatomegaly OMIM:612132
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Right ventricular hypertrophy, Cardiomegaly ORPHA:555874
Pneumocystosis
Neoplasm, Abnormal neutrophil count ORPHA:723
Lowe Oculocerebrorenal Syndrome
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Bi... OMIM:309000
Thauvin-Robinet-Faivre Syndrome
Nephroblastoma, Transient neutropenia OMIM:617107
Leptospirosis
Hepatomegaly, Jaundice, Hepatitis, Hyperproteinemia, Elevated serum transaminases during infectio... ORPHA:509
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hemolytic anemia, Portal hypertension, Fetal ascites, Cholestasis, Hepatosplenomegaly, Hypocalcem... OMIM:619503
Eisenmenger Syndrome
Brain abscess, Hepatomegaly, Elevated circulating C-reactive protein concentration, Patent ductus... ORPHA:97214
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Right ventricular hypertrophy, Abnormality of the hepatic vasculature, Cardiomegaly ORPHA:1677
Alström Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Portal hypertension, Splenomeg... ORPHA:64
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Hepatic steatosis, Type II diabetes mellitus ORPHA:3455
Telangiectasia, Hereditary Hemorrhagic, Type 2
Brain abscess, Cirrhosis, Hepatic arteriovenous malformation, Polycythemia, Anemia OMIM:600376
Sponastrime Dysplasia
Neutropenia ORPHA:93357
Telangiectasia, Hereditary Hemorrhagic, Type 1
Brain abscess, Cirrhosis, Hepatic arteriovenous malformation, Polycythemia, Anemia OMIM:187300

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

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

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

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