Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
glycosylated lysosomal membrane protein
Synonyms:
0610031J06Rik,  NCU-G1

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Glmp mutations

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

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Hep... OMIM:616860
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Hepatic fibrosis... OMIM:614480
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hep... OMIM:613313
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Elevated cir... OMIM:619658
Glycine N-Methyltransferase Deficiency
Hypermethioninemia, Elevated hepatic transaminase, Hepatomegaly OMIM:606664
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatic failure, Iron deficiency anemia, Elevated... OMIM:616278
African Iron Overload
Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno... ORPHA:139507
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Recurrent bacterial skin infections, Viral hepatiti... ORPHA:101330
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Decreased transf... ORPHA:300298
Gracile Syndrome
Increased circulating ferritin concentration, Decreased transferrin saturation, Cirrhosis, Choles... ORPHA:53693
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619874
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Hepatocellular necrosis, Hepatic failure, Cirrhosis... OMIM:231100
Diamond-Blackfan Anemia 19
Steroid-responsive anemia, Anemia, Erythroid hypoplasia OMIM:618312
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Prolonged neonatal jaundice, Increased serum iron, ... ORPHA:446
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Hep... OMIM:278000
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Colitis, Hepatomegaly, Folliculitis, Hemophagocytos... OMIM:300635
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia, Abnormality of the liver OMIM:206100
Splenoportal Vascular Anomalies
Splenomegaly, Hyperammonemia, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous... OMIM:271500
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Elevated alpha-fetoprotein... OMIM:619662
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis OMIM:613783
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Recurrent ot... ORPHA:444463
Hepatocellular Carcinoma
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Hemochromatosis Type 2
Increased circulating ferritin concentration, Abnormality of endocrine pancreas physiology, Conge... ORPHA:79230
Cyanosis And Hepatic Disease
Abnormal abdomen morphology, Hepatitis OMIM:219400
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly OMIM:616719
Cirrhosis, Familial
Cirrhosis, Hepatitis, Chronic active hepatitis OMIM:118900
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Elevated gamma-glutamyl... OMIM:603471
Beta-Thalassemia Intermedia
Cholelithiasis, Decreased mean corpuscular volume, Anemia of inadequate production, Abnormality o... ORPHA:231222
Glycogen Storage Disease Iii
Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated hepati... OMIM:232400
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatocellular carci... ORPHA:369
Porphyria Cutanea Tarda, Type I
Hyperpigmentation of the skin, Eczema, Hepatic fibrosis OMIM:176090
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Hepatic bridgin... OMIM:613759
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Decreased liver function, Neutropenia, Hepatomegaly... ORPHA:158061
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Ane... OMIM:205950
Halothane Hepatitis
Eosinophilia, Hepatitis, Viral hepatitis, Jaundice OMIM:234350
Fadd-Related Immunodeficiency
Decreased liver function, Hepatic fibrosis ORPHA:306550
Hemochromatosis Type 4
Increased circulating ferritin concentration, Cirrhosis, Congenital hepatic fibrosis, Generalized... ORPHA:139491
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Hepatic fail... OMIM:613812
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Bile Acid Synthesis Defect, Congenital, 4
Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Hepatic failure, Elevated hepatic transam... OMIM:214950
Coach Syndrome 2
Congenital hepatic fibrosis, Elevated hepatic transaminase, Elevated circulating creatinine conce... OMIM:619111
Glycogen Storage Disease Vi
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Hypertriglyceride... OMIM:232700
Gallbladder Disease 1
Cholelithiasis, Pancreatitis, Elevated circulating alkaline phosphatase concentration, Cholestasi... OMIM:600803
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... OMIM:206000
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Elevat... OMIM:619868
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatomegaly, Prolonged neonatal jaundice, Increased LDL cholesterol c... OMIM:616828
Alpha-1-Antitrypsin Deficiency
Hepatitis, Hepatomegaly, Jaundice, Hepatic failure ORPHA:60
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Cholestasis, Progressive Familial Intrahepatic, 6
Elevated circulating alkaline phosphatase concentration, Periportal fibrosis, Elevated gamma-glut... OMIM:619484
Hepatorenocardiac Degenerative Fibrosis
Cirrhosis, Hepatosplenomegaly, Hepatocellular carcinoma, Enlarged kidney, Elevated hepatic transa... OMIM:619902
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Elevated circulating alkaline phosphatase concentration, Increased LDL ... OMIM:616829
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hemophagocytosis, Intestinal inflammation, Hepatosplenomegaly, Membran... OMIM:619858
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Elev... ORPHA:567983
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased circulating ferritin concentration, Cholelithiasis, Hepatomegaly, Splenomegaly, Increas... OMIM:194380
Bile Acid Malabsorption, Primary, 2
Periportal fibrosis, Elevated circulating aspartate aminotransferase concentration, Copper accumu... OMIM:619481
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Abnormality of the pancreas, Abnormal liver parenchyma morphology ORPHA:3032
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Hyperbilirubinemia, P... ORPHA:64743
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Hepatosplenomegaly, Hepatic fibrosis, Acute hepatic failure ORPHA:466794
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatic failure, Cirrhosis,... OMIM:607765
Aceruloplasminemia
Increased circulating ferritin concentration, Abnormal pancreas morphology, Abnormality of retina... ORPHA:48818
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Elevated circulating aspartate aminotransferase c... OMIM:620010
Pediatric Hepatocellular Carcinoma
Elevated alpha-fetoprotein, Hepatic fibrosis, Hepatomegaly, Hepatic necrosis ORPHA:33402
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Increased hepatic glycogen content, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Hypoglycem... ORPHA:293964
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase OMIM:618400
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615395
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... ORPHA:766
Adult-Onset Still Disease
Elevated circulating C-reactive protein concentration, Neutrophilia, Hepatomegaly, Abnormal circu... ORPHA:829
Mpi-Cdg
Decreased liver function, Hepatomegaly, Abnormal enzyme/coenzyme activity, Hepatic fibrosis, Hypo... ORPHA:79319
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Reticulocytosis,... OMIM:237800
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Sclerosing cholangitis, Cholestasis, Duct... OMIM:617394
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Hyperbilirubinemia, Splenomegaly, ... OMIM:251880
Nephronophthisis 19
Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation OMIM:616217
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase ... OMIM:269600
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Ulcerative colitis OMIM:619398
Infantile Liver Failure Syndrome 3
Hepatomegaly, Hyperammonemia, Splenomegaly, Acute hepatic failure, Cholestasis, Elevated hepatic ... OMIM:618641
Retinitis Pigmentosa 89
Hepatosplenomegaly, Hepatic fibrosis, Micronodular cirrhosis, Intrahepatic bile duct dilatation OMIM:618955
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomega... OMIM:214900
Beta-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Abnormality of iron homeostasis,... ORPHA:848
Caroli Disease
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Elevated circulating alkaline phosphatase conce... ORPHA:53035
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Hepatic failure OMIM:261650
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Elevated hepatic transaminase, Cholestatic liver disease OMIM:602114
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Jaundice OMIM:312500
Complement Component 4B Deficiency
Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia, Recurrent otitis media OMIM:614379
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... ORPHA:263458
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Periportal fibrosis OMIM:213010
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Elevated circulating alkaline phosphatase... ORPHA:79303
Griscelli Syndrome
Hepatomegaly, Abnormal circulating lipid concentration, Splenomegaly, Leukopenia, White hair, Thr... ORPHA:381
Autoimmune Hepatitis
Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Sclerosing cholangitis, Fulmi... ORPHA:2137
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Elevated hepatic trans... OMIM:617156
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Hep... OMIM:615234
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Abnormal enzyme/coenzyme activity, Splenomegaly, Cirrhosis, Elevated circulating cr... ORPHA:370
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatic steatosis, Hepatic fibrosis ORPHA:280356
Wilson Disease
Hepatomegaly, Acute hepatitis, Splenomegaly, Acute hepatic failure, Cirrhosis, Thrombocytopenia, ... ORPHA:905
Cyanosis, Transient Neonatal
Methemoglobinemia, Hepatomegaly, Anemia, Reticulocytosis, Jaundice OMIM:613977
Congenital Disorder Of Glycosylation, Type Iih
Elevated circulating creatine kinase concentration, Elevated circulating aspartate aminotransfera... OMIM:611182
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Hepatomegaly OMIM:615158
X-Linked Sideroblastic Anemia
Splenomegaly, Abnormality of iron homeostasis, Elevated hepatic transaminase, Hyperpigmentation o... ORPHA:75563
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly, Skin rash, Splenomegaly OMIM:619175
Gilbert Syndrome
Elevated hepatic transaminase, Jaundice, Unconjugated hyperbilirubinemia, Hepatic failure OMIM:143500
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia, Hepatomegaly OMIM:609016
Alpha-1-Antitrypsin Deficiency
Reduced serum alpha-1-antitrypsin, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated he... OMIM:613490
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated hepatic transaminase, ... OMIM:610717
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Lymphopenia, Cirrhosis, Arthritis, Elevated hepatic... OMIM:604250
Primary Biliary Cholangitis
Elevated circulating alkaline phosphatase concentration, Abnormal circulating lipid concentration... ORPHA:186
Atransferrinemia
Abnormality of the liver, Atransferrinemia, Hypochromic anemia OMIM:209300
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Glucose intolerance, Hepatomegaly, Cirrhosis, Osteo... OMIM:606069
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Nesidioblastosis OMIM:601820
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hepatomegaly, Conjunctivitis, Hemophagocytosis, Spl... OMIM:603552
Systemic Primary Carnitine Deficiency
Elevated hepatic transaminase, Hepatomegaly ORPHA:158
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hepatic failure, Cirrhosis, Hepatic fibrosis, Hypoalbuminemia, Lymphangiectasis OMIM:602579
Congenital Isolated Acth Deficiency
Hepatitis, Hypoglycemic seizures, Hyponatremia, Prolonged neonatal jaundice, Neonatal hypoglycemia ORPHA:199296
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Abnormal enzyme/coenzyme activity, Splenomegaly, Cirrhosis, Elevated circulating cr... ORPHA:264580
Hepatitis, Fulminant Viral, Susceptibility To
Hepatomegaly, Hepatic failure, Fulminant hepatitis, Elevated hepatic transaminase, Hashimoto thyr... OMIM:618549
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Hepatic failure, Abnormal mitochondrial morphology, Cholestasis, Elevated hepatic t... OMIM:618528
Congenital Bile Acid Synthesis Defect Type 4
Cholelithiasis, Cholestatic liver disease, Giant cell hepatitis, Abnormal enzyme/coenzyme activit... ORPHA:79095
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Cirrh... OMIM:300972
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Hypoproteinemia, Splenomegaly, Leukocytosis, Lymphadenitis, Elevated circulating cr... OMIM:615895
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid... OMIM:133180
Congenital Atransferrinemia
Anemia, Abnormality of the pancreas, Arthritis ORPHA:1195
Interstitial Lung And Liver Disease
Hepatomegaly, Hyperammonemia, Hepatic failure, Cirrhosis, Intraalveolar phospholipid accumulation... OMIM:615486
X-Linked Agammaglobulinemia
Sinusitis, Hypocalcemia, Osteomyelitis, Skin rash, Abnormality of the lymphatic system, Chronic o... ORPHA:47
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Decreased HDL ... ORPHA:247585
Transaldolase Deficiency
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Splenomegaly, Cirrhosis, Hepatosp... OMIM:606003
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Isolated Biliary Atresia
Decreased liver function, Hepatomegaly, Periportal fibrosis, Elevated circulating alkaline phosph... ORPHA:30391
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic failure, Hepatosplenomegaly, Cholestasis, Elevated hepatic transaminase, Hepatic fibrosis... ORPHA:541423
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Protoporphyria, Erythropoietic, X-Linked
Cholelithiasis, Increased erythrocyte protoporphyrin concentration, Elevated hepatic transaminase... OMIM:300752
Immunodeficiency 104
Hepatomegaly, Otitis media, Splenomegaly, Eczema, T lymphocytopenia, Chronic mucocutaneous candid... OMIM:608971
Adams-Oliver Syndrome 6
Hepatic fibrosis, Portal hypertension, Splenomegaly OMIM:616589
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decr... OMIM:607616
Galactosemia Iii
Hepatomegaly, Decreased beta-galactosidase activity, Splenomegaly, Hypergalactosemia, Jaundice OMIM:230350
Cholestasis, Intrahepatic, Of Pregnancy, 1
Increased serum bile acid concentration during pregnancy, Elevated hepatic transaminase, Abnormal... OMIM:147480
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hepatic transaminase, ... ORPHA:79301
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Abnormal enzyme/coenzyme activity, Splenomegaly, Cirrhosis, Elevated circulating cr... ORPHA:79240
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Chronic oral candidiasis, Otitis media, Eosinophilia, Hepatosplenomegaly, Hepatitis,... ORPHA:169160
Congenital Enterovirus Infection
Leukocytosis, Hyperammonemia, Hepatic failure, Skin rash, Leukopenia, Cholestasis, Abnormal macro... ORPHA:292
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... OMIM:615631
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Hepatic failure, Splenomegaly, Cholestasis, Hepatic fibrosis OMIM:615630
Biliary Atresia, Extrahepatic
Hepatomegaly, Hyperbilirubinemia, Cirrhosis, Elevated hepatic transaminase, Increased total bilir... OMIM:210500
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Chronic gastritis, Exocrine pancreatic insufficienc... OMIM:619991
Tyrosinemia Type 1
Acute hepatic failure, Hepatocellular carcinoma, Hepatomegaly, Splenomegaly ORPHA:882
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Congenital hepatic fibrosis ORPHA:3156
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Macrovesicular hepatic steatosis, Cholestasis, Hypertrig... ORPHA:209902
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Cirr... ORPHA:231226
Caroli Syndrome
Cholangiocarcinoma, Hepatomegaly, Pancreatitis, Elevated circulating alkaline phosphatase concent... ORPHA:480520
Hepatic Veno-Occlusive Disease
Hepatomegaly, Elevated hepatic transaminase, Increased total bilirubin, Ascites, Jaundice ORPHA:890
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Cholelithiasis, Giant cell hepatitis, Jaundice OMIM:214980
Primary Sclerosing Cholangitis
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Pancreatitis, Cholestasis, Chronic hepatic fail... ORPHA:171
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Hyperammonemia, Necrotizing enterocol... OMIM:201475
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice, Splenomegaly OMIM:179700
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonep... OMIM:304790
Bile Acid Conjugation Defect 1
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Con... OMIM:619232
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Hepatomegaly, Elevated circulating C-reactive protein concentration, Hemophagocytosi... OMIM:308240
Senior-Boichis Syndrome
Elevated circulating alkaline phosphatase concentration, Cirrhosis, Hepatosplenomegaly, Reduced n... ORPHA:84081
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... OMIM:615285
Hemophagocytic Lymphohistiocytosis, Familial, 3
Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia OMIM:608898
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia, Prolonged neonatal jaundice OMIM:262400
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Arthritis, H... OMIM:602390
Graft Versus Host Disease
Inflammatory abnormality of the skin, Elevated circulating alkaline phosphatase concentration, Hy... ORPHA:39812
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Anisopoikilocy... OMIM:616689
Trichohepatoenteric Syndrome 2
Colitis, Hepatomegaly, Cirrhosis, Chronic hepatitis, Decreased serum iron OMIM:614602
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Elevated hepatic transaminase, De... OMIM:301045
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Hyperuricemia, H... OMIM:306000
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Hyperbilirubinemia, Elevated circulating alkaline phosphatase concentration, Spleno... OMIM:235555
Immunodeficiency 69
Increased circulating ferritin concentration, Leukocytosis, Splenomegaly, Skin rash, Hepatospleno... OMIM:618963
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hepatitis ORPHA:363523
Dpm1-Cdg
Hepatomegaly, Hepatosplenomegaly, Elevated circulating creatine kinase concentration, Elevated he... ORPHA:79322
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Elevated circulating alkaline phosphatase concentration, Hyperbilirubi... ORPHA:562639
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Cholestasis, Enlarged kidney, Hepatic fibrosis, Asplenia OMIM:615415
Combined Oxidative Phosphorylation Deficiency 30
Hyperalaninemia, Left ventricular hypertrophy, Decreased liver function, Elevated hepatic transam... OMIM:616974
Immunodeficiency 56
Chronic hepatitis due to cryptosporidium infection, Hepatic failure, Cirrhosis, Recurrent sinusit... OMIM:615207
Avian Influenza
Elevated circulating C-reactive protein concentration, Lymphopenia, Leukopenia, Elevated circulat... ORPHA:454836
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Increased hepatic glycogen content, Chronic hepatitis, Elevated circulating creatin... OMIM:614921
Nephronophthisis 16
Patent ductus arteriosus, Periportal fibrosis, Cholestasis, Enlarged kidney OMIM:615382
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Increased circulating ferritin concentration, Abnormality of the hepatic vasculature, Hepatosplen... ORPHA:210136
Alpha-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... ORPHA:846
Coach Syndrome 1
Abnormal abdomen morphology, Hepatomegaly, Intrahepatic bile duct dilatation, Splenomegaly, Cirrh... OMIM:216360
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphocytosis, Pustule, Acute hepatic failure, Skin rash, Eosinophilia, Interstitial pneumonitis,... ORPHA:139402
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Macrovesicular ... OMIM:600649
Senior-Loken Syndrome 9
Tubulointerstitial nephritis, Hepatic fibrosis, Cholestasis OMIM:616629
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Splenomegaly, Cirrhosis, Pancreatic fibrosis, Hyperechogenic pancreas, Malformation... OMIM:208540
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Hypertriglyceridemia, Hypercholesterolemi... ORPHA:75234
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Anemia of inadequate production, Increased mean cor... ORPHA:3202
Meckel Syndrome, Type 3
Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate OMIM:607361
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Giant cell hepatitis, Cholestatic liver disease, Hepatomegaly, Right ventricular hypertrophy, Ele... OMIM:613404
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hepatic failure, Hypoglycemia, Pancytopenia, Hepatic steatosis OMIM:617872
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, E... ORPHA:231214
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Maturity-onset diabetes of the you... ORPHA:324575
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating alkaline phosphatase concentration, Hyperbilirubinemia, Hepatic failure, Cir... ORPHA:79302
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Left ventricular hypertrophy, Hepatosplenomegaly, Chilblains, Pericarditis, Acute p... OMIM:619487
Aicardi-Goutieres Syndrome 3
Elevated hepatic transaminase, Hepatosplenomegaly, Thrombocytopenia, Chilblains OMIM:610329
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Gastritis, Eczema, Decreased prealbumin level, Pneumonia, Eczematoid dermatitis, Colitis, Osteomy... ORPHA:37042
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, B... OMIM:602347
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Hepatomegaly, Splenomegaly, Cholestasis, Jaundice ORPHA:172
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Chronic otitis media, Arthritis, ... ORPHA:33110
Congenital Respiratory-Biliary Fistula
Abnormality of the liver ORPHA:2040
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased liver function, Hyperornithinemia, Hepatomegaly, Hyperammonemia, Acute hepatitis OMIM:238970
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reduced level of N-acetylglucosami... OMIM:224100
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypoglycemia, Hypertri... OMIM:613027
Joubert Syndrome 9
Hepatic fibrosis OMIM:612285
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... ORPHA:158057
Legionnaires Disease
Pancreatitis, Lymphopenia, Splenomegaly, Endocarditis, Myocarditis, Hepatitis, Infectious encepha... ORPHA:549
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Hyperbiliru... OMIM:613673
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Chronic oral candidiasis, Enlarged tonsils, Splenomegaly, Cirrhosis, Chronic hepati... OMIM:308230
Melioidosis
Splenic abscess, Prostatitis, Osteoarthritis, Abnormality of the spleen, Parotitis, Acute infecti... ORPHA:31202
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Normocytic ane... OMIM:235700
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Microvesicular hepatic steatosis, Hepatomegaly, Elevated circulating alkaline phosphatase concent... OMIM:300868
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Prolonged neonatal jaundice, S... OMIM:224120
Dpm3-Cdg
Elevated creatine kinase after exercise, Elevated hepatic transaminase ORPHA:263494
Autoimmune Lymphoproliferative Syndrome, Type Iii
Elevated circulating C-reactive protein concentration, Hepatomegaly, Splenomegaly, Increased prop... OMIM:615559
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Abnormality of the lymphatic system, Bilia... ORPHA:1414
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration OMIM:612937
Cholestasis, Intrahepatic, Of Pregnancy 3
Abnormal liver function tests during pregnancy, Increased serum bile acid concentration during pr... OMIM:614972
Lysosomal Acid Lipase Deficiency
Decreased liver function, Microvesicular hepatic steatosis, Vacuolated lymphocytes, Elevated circ... ORPHA:275761
Propionic Acidemia
Hypoglycemia, Propionyl-CoA carboxylase deficiency, Hepatomegaly, Hyperammonemia ORPHA:35
Harderoporphyria
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Hemolytic anemia, Hyper... OMIM:618892
Immunodeficiency By Defective Expression Of Mhc Class Ii
Acute otitis media, Sinusitis, Neutropenia, Neutropenia in presence of anti-neutropil antibodies,... ORPHA:572
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ... OMIM:619463
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia, Cholestatic liver disease, Hypochromic microcytic anemia, Cholestasis... ORPHA:440713
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Leishmaniasis
Hepatomegaly, Rhinitis, Splenomegaly, Leukopenia, Abnormal macrophage morphology, Thrombocytopeni... ORPHA:507
Nodular Regenerative Hyperplasia Of The Liver
Abnormality of the hepatic vasculature, Portal hypertension ORPHA:48372
Trichohepatoenteric Syndrome 1
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Generalized hypopigmentation, Cholestasis... OMIM:222470
Hypermethioninemia Due To Adenosine Kinase Deficiency
Decreased liver function, Hyperbilirubinemia, Cholestasis, Hypermethioninemia, Elevated hepatic t... OMIM:614300
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Hepatic failure, Splenomegaly, Hyperammonemia ORPHA:664
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated circulating C-reactive protein concentration, Neutrophilia, Abnormality of the lymph nod... ORPHA:54251
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Hepatic steatosis, Elevated hepatic transaminase OMIM:617093
Bacterial Toxic-Shock Syndrome
Abscess, Myocarditis, Elevated circulating creatinine concentration, Pneumonia, Septic arthritis,... ORPHA:36234
Lichen Planopilaris
Hepatitis, Hypopigmented skin patches ORPHA:525
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Colitis, Hemophagocytosis, Splenomegaly, Hepatosple... OMIM:613101
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellul... OMIM:235200
Osteootohepatoenteric Syndrome
Hypokalemia, Microvesicular hepatic steatosis, Cholestasis, Hepatic fibrosis, Prolonged neonatal ... OMIM:619377
Cryoglobulinemic Vasculitis
Hepatomegaly, Viral hepatitis, Splenomegaly, Mediastinal lymphadenopathy, Arthritis, Keratoconjun... ORPHA:91138
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Cholestatic liver disease, Intrahepatic biliary atresia, Right ventricular ... OMIM:208085
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Splenomegaly, Cholestasis, Pancreatic hypoplasia, Hepatitis, Splenic cyst, Hepatic ... OMIM:610199
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Cirrhosis, H... OMIM:601847
Griscelli Syndrome Type 2
Hyperlipidemia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Hypopigmentation of hair, Pancytope... ORPHA:79477
Argininosuccinic Aciduria
Hepatomegaly, Hyperammonemia, Episodic ammonia intoxication, Hypoargininemia, Hyperglutaminemia, ... OMIM:207900
Laurence-Moon Syndrome
Congenital hepatic fibrosis ORPHA:2377
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Abnormal circulating creatine kinase concentration, Elevated hepatic transaminase, Hepatic steato... ORPHA:369840
Autoimmune Polyendocrine Syndrome, Type Ii
Exocrine pancreatic insufficiency, Type II diabetes mellitus, Cirrhosis, Chronic hepatitis, Kerat... OMIM:269200
Sickle Cell Anemia
Increased mean corpuscular volume, Osteomyelitis, Leukocytosis, Hypochromic anemia, Persistence o... ORPHA:232
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Hepatomegaly, Splenomegaly, Decreased hemoglobin concentration, Cholecystitis, Ch... OMIM:266200
Disorder Of Bile Acid Synthesis
Elevated hepatic transaminase, Abnormality of the liver, Cholestasis, Biliary tract abnormality ORPHA:79168
Isobutyryl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Anemia OMIM:611283
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Decreased liver function, Hyperammonemia, Increased serum pyruvate, Elevated circulating sebacic ... OMIM:615160
Q Fever
Osteomyelitis, Hepatomegaly, Splenomegaly, Maculopapular exanthema, Hepatosplenomegaly, Endocardi... ORPHA:781
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Periportal fibrosis, Splenomegaly, Enlarged kidney, Hepatic cysts, Portal hypertens... OMIM:263200
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Jaundice, Pancreatic cysts, Spl... ORPHA:731
Hypermanganesemia With Dystonia 1
Decreased liver function, Hepatomegaly, Polycythemia, Cirrhosis, Elevated hepatic transaminase, H... OMIM:613280
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Elevated hepati... OMIM:255120
Combined Oxidative Phosphorylation Deficiency 52
Pancreatitis, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... OMIM:619386
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Polycythemia, Normocytic anemia, C... OMIM:222800
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ... OMIM:619849
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Thyroiditis, Neutropenia in presence of anti-neutropil antibodies, Acute hepatic failure, Cirrhos... ORPHA:228426
Syndromic Diarrhea
Colitis, Hepatomegaly, Hepatoblastoma, Lymphopenia, Splenomegaly, Gastritis, Cirrhosis, Hypoplasi... ORPHA:84064
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Increased circulating lactate dehyd... ORPHA:3203
Hardikar Syndrome
Hepatomegaly, Hepatic failure, Cholestasis, Prolonged neonatal jaundice, Bile duct proliferation,... OMIM:301068
Wilson Disease
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Por... OMIM:277900
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis... OMIM:185000
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, E... OMIM:617713
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... ORPHA:69663
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:614034
Immunodeficiency 91 And Hyperinflammation
Elevated circulating C-reactive protein concentration, Neutrophilia, Hepatomegaly, Hemophagocytos... OMIM:619644
Farber Disease
Abnormal enzyme/coenzyme activity, Hepatic failure, Hepatosplenomegaly, Arthritis, Elevated hepat... ORPHA:333
Abetalipoproteinemia
Abnormal circulating apolipoprotein concentration, Abnormality of retinal pigmentation, Hepatomeg... ORPHA:14
Congenital Disorder Of Glycosylation, Type Iij
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Hepatic failure, Splenomeg... OMIM:613489
Trimethylaminuria
Anemia, Neutropenia, Recurrent pneumonia, Splenomegaly OMIM:602079
Myopathy, Congenital, Nonprogressive
Abnormal circulating creatine kinase concentration, Elevated hepatic transaminase, Patent ductus ... OMIM:619967
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Cholestatic liver disease, Pancreatitis, Cirrhosis, Hepatocellular carcinoma, Ele... ORPHA:65682
Dyskeratosis Congenita, Autosomal Dominant 2
Neutropenia, Leukopenia, Aplastic anemia, Hepatic fibrosis, Pancytopenia, Bone marrow hypocellula... OMIM:613989
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Hypercholeste... OMIM:612526
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Hepatomegaly, Skin rash, Splenomegaly, Maculopapular exanthema, Ma... ORPHA:98848
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly OMIM:273680
Peroxisome Biogenesis Disorder 1B
Cirrhosis, Hepatic fibrosis, Hepatomegaly, Hyperoxaluria OMIM:601539
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Formiminoglutamic Aciduria
Megaloblastic anemia, Anemia, Abnormal enzyme/coenzyme activity, Abnormal circulating histidine c... ORPHA:51208
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, Pancytopenia, Thro... OMIM:610333
Bare Lymphocyte Syndrome, Type Ii
Colitis, Viral hepatitis, Biliary tract abnormality, Chronic mucocutaneous candidiasis, Infectiou... OMIM:209920
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Hepatomegaly, Thrombocytopenia, Elevated hepatic transaminas... ORPHA:858
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... OMIM:209950
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Hyperammonemia, Decreased plasma carnitine, Elevated hepatic transaminase, Decrease... OMIM:212140
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hypoglycemia, Elevat... OMIM:619048
Spherocytosis, Type 2
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosi... OMIM:616649
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Elevated hepatic transaminase, Hyperammonemia OMIM:615453
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Cirrhosis, Hepatic fibrosis, Increased circulating very long-chain fatty acid concentration, Chol... OMIM:609313
Spherocytosis, Type 1
Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosi... OMIM:182900
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hepatic failure, Elevated circula... ORPHA:228305
Spherocytosis, Type 4
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:612653
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen... ORPHA:75564
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Hemophagocytosis, Eczema, Decreased proportion of C... OMIM:619802
Donohue Syndrome
Pancreatic islet-cell hyperplasia, Hypermelanotic macule, Hepatic fibrosis, Cholestasis OMIM:246200
Autoimmune Polyendocrinopathy Type 4
Thymoma, Iridocyclitis, Rheumatoid arthritis, Leukopenia, Autoimmune thrombocytopenia, Macrocytic... ORPHA:227990
Spherocytosis, Type 5
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... OMIM:612690
Glycogen Storage Disease Vii
Cholelithiasis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Gout, Hemolytic anemia,... OMIM:232800
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Decreased liver function, Cholestatic liver disease... ORPHA:540
Dihydrolipoamide Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Elevated hepatic transaminase OMIM:246900
Myasthenia Gravis
Rheumatoid arthritis, Glycosuria, Myositis, Hemolytic anemia, Hepatitis, Pure red cell aplasia, H... ORPHA:589
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Microcytic anemia, Hypoa... OMIM:619013
Solute carrier family 4 (anion exchanger), member 1
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis... OMIM:109270
Joubert Syndrome With Hepatic Defect
Neoplasm of the liver, Hepatomegaly, Splenomegaly, Intrahepatic biliary atresia, Cirrhosis, Conge... ORPHA:1454
Mcleod Syndrome
Hepatomegaly, Splenomegaly, Elevated circulating creatine kinase concentration, Elevated circulat... OMIM:300842
Budd-Chiari Syndrome
Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Peritonitis, Cholecystitis, Elevate... ORPHA:131
Anemia, Congenital Dyserythropoietic, Type Iiia
Anemia of inadequate production, Congenital hypoplastic anemia, Increased circulating lactate deh... OMIM:105600
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Thrombocytosis, Hypocholesterolemia, Elevated hepatic transaminase, Hepatic fibrosi... OMIM:212065
Aspergillosis
Keratitis, Sinusitis, Osteomyelitis, Eosinophilia, Hepatitis, Infectious encephalitis, Pneumonia,... ORPHA:1163
Infantile Liver Failure Syndrome 1
Hepatomegaly, Acute hepatic failure, Macrocytic anemia, Elevated hepatic transaminase, Anemia, He... OMIM:615438
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hepatic failure, Low plasma citrulline, Hypoglycemia, Elevated circulating alanine ... OMIM:261680
Alstrom Syndrome
Chronic active hepatitis, Hepatomegaly, Nephritis, Otitis media, Decreased HDL cholesterol concen... OMIM:203800
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M... OMIM:614470
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis OMIM:603529
Cholestasis, Progressive Familial Intrahepatic, 5
Hepatic failure, Elevated alpha-fetoprotein, Cirrhosis, Hyperammonemia, Elevated circulating aspa... OMIM:617049
Cirrhosis, Familial
Micronodular cirrhosis, Cirrhosis, Fulminant hepatitis, Increased level of propylene glycol in bl... OMIM:215600
Lipoyltransferase 1 Deficiency
Decreased liver function, Increased total bilirubin, Elevated hepatic transaminase OMIM:616299
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Hyperprolinemia, Elevated hepatic transaminase, Hyperalaninemia, Cardiomegaly OMIM:619064
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Splenomegaly, Hepatitis, Hashimoto thyroiditis, Portal hypertension, Pancytopenia, ... OMIM:613385
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Cirrhosis, Elevated gamma-glutamyltransferase level, Elevated hepatic transaminase, Hypoalbuminem... OMIM:242150
Telangiectasia, Hereditary Hemorrhagic, Type 5
Elevated hepatic transaminase, Portal hypertension OMIM:615506
Glycogen Storage Disease Xii
Nonspherocytic hemolytic anemia, Cholelithiasis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, ... OMIM:611881
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Hyperbilirubinemia, Acute hepatic failure, Macrov... OMIM:613070
Autoimmune Polyendocrinopathy Type 3
Thymoma, Iridocyclitis, Rheumatoid arthritis, Leukopenia, Autoimmune thrombocytopenia, Macrocytic... ORPHA:227982
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased liver function, Hyperornithinemia, Hepatomegaly, Hyperammonemia, Hepatic failure, Abnor... ORPHA:415
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Elevated hep... ORPHA:98870
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Hemophagocytosis, Hepatic failure, Cervical lymphad... ORPHA:2442
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Abnormal muscle glycogen content, Decreased liver function, Hepatomegaly, Hepatic failure, Cirrho... ORPHA:367
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Episodic hemolytic anemia, Hyperbilirubinemia, Schi... OMIM:601775
Thymic Aplasia
Decreased proportion of naive T cells, Sinusitis, Eczematoid dermatitis, Chronic oral candidiasis... ORPHA:83471
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Hepatomegaly, Gastritis, Uveitis, Bone marrow hypoce... ORPHA:3261
Meckel Syndrome, Type 6
Hepatic cysts, Absent gallbladder, Hepatic fibrosis, Bile duct proliferation, Cystic liver disease OMIM:612284
Bardet-Biedl Syndrome
Hepatic fibrosis, Pigmentary retinopathy ORPHA:110
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Inflammatory abnormality of the skin, Hypoprotein... ORPHA:398063
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Nonspherocytic hemolytic anemia, Decreased glucosephosphate isomerase level, Sple... OMIM:613470
Sea-Blue Histiocytosis
Blepharitis, Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Hypopigmentation of the skin, Me... ORPHA:158029
Late-Onset Isolated Acth Deficiency
Eosinophilia, Normocytic anemia, Macrocytic anemia, Hypoglycemia, Hepatitis, Type I diabetes mell... ORPHA:199299
Orthostatic Hypotension 2
Hypoglycemia, Anemia OMIM:618182
Vitamin B12-Responsive Methylmalonic Acidemia
Anemia, Hepatomegaly, Hyperammonemia ORPHA:28
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hepatomegaly, Hypoproteinemia, Hemophagocytosis, Sp... OMIM:603553
Omenn Syndrome
Hepatomegaly, Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lym... OMIM:603554
Dyskeratosis Congenita, Autosomal Recessive 1
Aplastic anemia, Hyperpigmentation of the skin, Hepatic fibrosis, Bone marrow hypocellularity, Th... OMIM:224230
Systemic-Onset Juvenile Idiopathic Arthritis
Elevated circulating C-reactive protein concentration, Hepatomegaly, Skin rash, Splenomegaly, Juv... ORPHA:85414
Joubert Syndrome 6
Bile duct proliferation, Hepatic fibrosis OMIM:610688
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Pyruvate Dehydrogenase E3 Deficiency
Hepatomegaly, Hyperammonemia, Hepatic failure, Hyperisoleucinemia, Decreased plasma carnitine, El... ORPHA:2394
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Cholestasis, Hypermethioni... ORPHA:247598
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Conjugated hyperbilirubinemia, Jaundice, I... OMIM:211600
Cog4-Cdg
Elevated circulating alkaline phosphatase concentration, Cirrhosis, Hepatosplenomegaly, Elevated ... ORPHA:263501
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Neutropenia OMIM:618752
Ebola Hemorrhagic Fever
Lymphopenia, Maculopapular exanthema, Leukopenia, Acute pancreatitis, Hepatitis, Thrombocytopenia ORPHA:319218
Rh-Null, Regulator Type
Hemolytic anemia, Jaundice, Unconjugated hyperbilirubinemia, Stomatocytosis OMIM:268150
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase conc... ORPHA:42
Mucopolysaccharidosis Type 7
Hepatitis, Ascites, Splenomegaly ORPHA:584
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Pustule, Elevated creatine kinase after exercise, Elevated hepatic transaminase, Superficial derm... ORPHA:284426
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Exocrine pancreatic insufficiency, Lymphopenia, Elevated circulating alkaline phosphatase concent... OMIM:620005
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Enlarged kidney, Hepatic fibrosis, Polysplenia, Ascites OMIM:200995
B4Galt1-Cdg
Inflammatory abnormality of the skin, Hepatomegaly, Abnormal enzyme/coenzyme activity, Splenomega... ORPHA:79332
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Nephritis, Polycystic liver disease, Pancreatic fibrosis, Conjugated hyperbilirubinemia, Hepatic ... OMIM:208500
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Osteomyelitis leading to amputation due to slow healing fractures, Microvesicular hepatic steatos... OMIM:256810
Pyruvate Carboxylase Deficiency
Hyperalaninemia, Increased serum pyruvate, Hypoglycemia, Hepatomegaly OMIM:266150
Eosinophilia, Familial
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis OMIM:131400
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Gastritis, B lymphocytopenia, Pneumonia, D... OMIM:619381
Hereditary Elliptocytosis
Cholelithiasis, Prolonged neonatal jaundice, Hyperbilirubinemia, Splenomegaly, Hemolytic anemia, ... ORPHA:288
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Anemia of inadequate production, Exocrine pancreatic insufficiency, Hepatomegaly, Skin rash, Sple... OMIM:612714
Rh Deficiency Syndrome
Hypochromia, Hyperbilirubinemia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anem... ORPHA:71275
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Recurrent otitis media, Viral hepatitis, Skin rash, Recurrent tonsillitis, Rhe... ORPHA:183675
Transaldolase Deficiency
Cirrhosis, Hepatosplenomegaly, Abnormal circulating glutamine concentration, Anemia, Thrombocytop... ORPHA:101028
Mody
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Hyperinsulinemic hypogly... ORPHA:552
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hepatomegaly, Hypoproteinemia, Increased LDL choles... OMIM:267700
Infantile Liver Failure Syndrome 2
Acute hepatic failure, Hyperammonemia, Hypoglycemia, Elevated hepatic transaminase, Jaundice OMIM:616483
Proteasome-Associated Autoinflammatory Syndrome 3
Sinusitis, Hepatomegaly, Lymphopenia, Skin rash, Splenomegaly, Myositis, Thrombocytopenia, Arthri... OMIM:617591
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Elliptocytosis 3
Decreased mean corpuscular volume, Elliptocytosis, Chronic hemolytic anemia, Pyropoikilocytosis, ... OMIM:617948
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... OMIM:300908
Immune Deficiency Disease
Fulminant hepatitis, Cholangitis OMIM:242850
Immunodeficiency 102
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Increased proportion of CD8-p... OMIM:301082
Aicardi-Goutieres Syndrome 7
Increased circulating ferritin concentration, Hepatomegaly, Skin rash, Splenomegaly, Atopic derma... OMIM:615846
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Enterocolitis, Leukocytosis, Hypoplasia of the thymus, Thrombocytosis, Impaired lymp... OMIM:243150
Sitosterolemia 1
Episodic hemolytic anemia, Stomatocytosis, Splenomegaly, Anemia, Arthritis, Increased circulating... OMIM:210250
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Transient hyperlipidemia, Hepatomegaly, Hepatic failure ORPHA:156
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... OMIM:618398
Nephronophthisis 3
Hepatic fibrosis OMIM:604387
Hereditary Spherocytosis
Cholelithiasis, Hepatomegaly, Hyperbilirubinemia, Spherocytosis, Splenomegaly, Extramedullary hem... ORPHA:822
Wolman Disease
Hepatomegaly, Splenomegaly, Hepatic failure, Anemia, Bone-marrow foam cells, Ascites ORPHA:75233
Anemia, Sideroblastic, 1
Anemia of inadequate production, Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic ... OMIM:300751
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Neutropenia, Hepatomegaly, Abnormal T cell subset d... ORPHA:158048
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:613011
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia, Anemia, Elevated circulating creatine kinase concentration OMIM:618838
Neonatal Lupus Erythematosus
Neutropenia, Hepatomegaly, Skin rash, Splenomegaly, Hepatic failure, Maculopapular exanthema, Apl... ORPHA:398124
Cystic Echinococcosis
Cholestatic liver disease, Hepatomegaly, Hyperbilirubinemia, Elevated circulating alkaline phosph... ORPHA:400
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Iridocyclitis, Chronic active hepatitis, Chronic oral candidiasis, Keratoconjunct... OMIM:240300
Microsporidiosis
Keratitis, Pancreatitis, Lymphadenitis, Myocarditis, Biliary tract abnormality, Pneumonia, Rhinit... ORPHA:2552
Apolipoprotein C-Ii Deficiency
Pancreatitis, Hepatomegaly, Splenomegaly, Decreased circulating apolipoprotein C-II concentration... OMIM:207750
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Prostatitis, Pyoderma, Enteroviral hepatitis, Epididymitis, Absent circulating B cells... OMIM:307200
Combined Oxidative Phosphorylation Deficiency 36
Hyperalaninemia, Elevated circulating alanine aminotransferase concentration, Elevated circulatin... OMIM:617950
Nephronophthisis 11
Anemia, Hepatic fibrosis OMIM:613550
Acute Erythroid Leukemia
Pancytopenia, Leukopenia, Anemia, Erythroid hypoplasia ORPHA:318
Osteopetrosis, Autosomal Recessive 8
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:615085
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis OMIM:263210
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology ORPHA:1332
Fish-Eye Disease
Decreased HDL cholesterol concentration, Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:79292
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Combined Oxidative Phosphorylation Deficiency 40
Hypoglycemia, Decreased liver function, Anemia, Elevated circulating creatine kinase concentration OMIM:618835
Relapsing Fever
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, In... ORPHA:91547
Adams-Oliver Syndrome
Cirrhosis, Leukopenia, Congenital hepatic fibrosis, Thrombocytopenia, Portal hypertension, Ascites ORPHA:974
Combined Oxidative Phosphorylation Deficiency 42
Hypoglycemia, Decreased liver function, Anemia, Elevated circulating creatine kinase concentration OMIM:618839
Interstitial Nephritis, Karyomegalic
Elevated hepatic transaminase, Tubulointerstitial nephritis, Elevated circulating creatinine conc... OMIM:614817
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Spondyloenchondrodysplasia
Skin rash, Juvenile rheumatoid arthritis, Autoimmune thrombocytopenia, Arthritis, Hepatitis, Viti... ORPHA:1855
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Ascites, Hepatic fibrosis OMIM:614091
Becker Muscular Dystrophy
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration ORPHA:98895
Agammaglobulinemia, X-Linked
Bronchiectasis, Recurrent otitis media, Prostatitis, Pyoderma, Enteroviral hepatitis, Hepatocellu... OMIM:300755
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Decreased plasma carnitine, Hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase OMIM:201450
Wolcott-Rallison Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Hyperbilirubinemia, Lymphocytosis, Hyperammonemi... ORPHA:1667
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia, Hepatomegaly, Hypercalcemia ORPHA:2123
Cinca Syndrome
Elevated circulating C-reactive protein concentration, Leukocytosis, Skin rash, Eosinophilia, Hep... OMIM:607115
Idiopathic Hypereosinophilic Syndrome
Pancreatitis, Neutrophilia, Cervical lymphadenopathy, Eczema, Erythroderma, Portal fibrosis, Coli... ORPHA:3260
Aceruloplasminemia
Increased circulating ferritin concentration, Aceruloplasminemia, Decreased serum iron, Diabetes ... OMIM:604290
Lesch-Nyhan Syndrome
Anemia, Gout, Hyperuricemia ORPHA:510
Vitamin B12-Unresponsive Methylmalonic Acidemia
Pancreatitis, Hepatomegaly, Hyperammonemia, Leukopenia, Macrocytic anemia, Anemia, Thrombocytopenia ORPHA:27
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Decreased circulating ferritin concentration, Hepatomegaly, Micronodular cirrhosis, Jaundice, Spl... ORPHA:309854
Rift Valley Fever
Skin rash, Elevated hepatic transaminase, Hepatitis, Uveitis, Infectious encephalitis, Anemia, Th... ORPHA:319251
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Inflammatory abnormality of th... ORPHA:391487
Mccune-Albright Syndrome
Hypophosphatemia, Pancreatitis, Large cafe-au-lait macules with irregular margins, Cholestasis, H... ORPHA:562
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Pancreatic fibrosis, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly OMIM:616263
Galactokinase Deficiency
Hyperinsulinemia, Hepatomegaly, Abnormal enzyme/coenzyme activity, Hepatosplenomegaly, Increased ... ORPHA:79237
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly OMIM:617441
Chronic Mucocutaneous Candidiasis
Hepatitis, Skin rash, Cheilitis ORPHA:1334
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Erythroid hyperplasia OMIM:301083
Genetic Recurrent Myoglobinuria
Hypocalcemia, Elevated aldolase level, Abnormality of glycolipid metabolism, Myositis, Increased ... ORPHA:99845
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pericarditis, Anemia ORPHA:163596
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Anemia, Thrombocytopenia OMIM:611490
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Congenital hepatic fibrosis ORPHA:2031
Blue Diaper Syndrome
Elevated hepatic transaminase, Hyperphosphatemia, Hypercalcemia ORPHA:94086
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Micronodular cirrhosis, Abnormal granulocyte morphology, Abnormal circulating creat... ORPHA:98907
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Glycosur... OMIM:616026
Leptospirosis
Optic neuritis, Hepatomegaly, Skin rash, Hyperproteinemia, Thrombocytopenia, Hepatitis, Uveitis, ... ORPHA:509
Immunodeficiency 98 With Autoinflammation, X-Linked
Recurrent otitis media, Hepatomegaly, Chronic oral candidiasis, Hemophagocytosis, Splenomegaly, B... OMIM:301078
Bleeding Disorder, Platelet-Type, 16
Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Anemia, Thrombocytopenia OMIM:187800
Mitochondrial Trifunctional Protein Deficiency
Elevated circulating acylcarnitine concentration, Hyperammonemia, Elevated circulating creatine k... OMIM:609015
Intrahepatic Cholestasis Of Pregnancy
Elevated circulating alkaline phosphatase concentration, Hyperbilirubinemia, Abnormality of the p... ORPHA:69665
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Hyperammonemia, Elevated creatine kinase after ... ORPHA:99901
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acetylcarnitine concentration, Decreased 3-hydroxyacyl-CoA dehydrogenase lev... ORPHA:71212
Congenital Disorder Of Deglycosylation 1
Hepatomegaly, Elevated alpha-fetoprotein, Elevated hepatic transaminase, Hepatic fibrosis, Hypera... OMIM:615273
Mevalonic Aciduria
Fluctuating hepatomegaly, Morbilliform rash, Elevated circulating C-reactive protein concentratio... OMIM:610377
Drug-Induced Lupus Erythematosus
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Elevated ci... ORPHA:231111
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Propionic Acidemia
Neutropenia, Pancreatitis, Hepatomegaly, Hyperammonemia, Propionyl-CoA carboxylase deficiency, Ec... OMIM:606054
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost... OMIM:233710
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Pancreatitis, Hepatomegaly, Hyperammonemia, Leukopenia, Hypoglycemia, Hyperglycinemia, Tubulointe... OMIM:251000
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Recurrent skin infections... OMIM:612840
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Hepatomegaly, Elevated circulating alkaline phospha... OMIM:619534
Hyperlipoproteinemia, Type I
Hyperlipidemia, Pancreatitis, Splenomegaly, Hepatosplenomegaly, Lactescent serum, Increased circu... OMIM:238600
Primary Myelofibrosis
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Incre... ORPHA:824
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Elevated hepati... OMIM:212138
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Hepatomegaly, Lymphopenia, Skin rash, Lymphadenitis, Eosinophilia, Hepatos... ORPHA:331206
Cranioectodermal Dysplasia 1
Hypocalcemia, Hepatomegaly, Hepatic failure, Malformation of the hepatic ductal plate, Hepatic cy... OMIM:218330
Myh9-Related Disease
Neutrophil inclusion bodies, Nephritis, Congenital thrombocytopenia, Increased mean platelet volu... ORPHA:182050
Combined Immunodeficiency-Enteropathy Spectrum
Hypoplasia of the thymus, Peritoneal abscess, Hepatitis, Rectal abscess, Hashimoto thyroiditis, A... ORPHA:436252
Amoebiasis Due To Entamoeba Histolytica
Acute colitis, Elevated circulating alkaline phosphatase concentration, Leukocytosis, Constrictiv... ORPHA:67
Zygomycosis
Splenic abscess, Sinusitis, Colitis, Pancreatitis, Gastritis, Nephritis, Enterocolitis, Pustule, ... ORPHA:73263
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Hepatosplenomegaly, Absence of lymph node germinal center, T lymphocytopenia, Eleva... ORPHA:79124
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hemophagocytosis, Increased proportion of CD25+ mas... ORPHA:167
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost... OMIM:233690
Reynolds Syndrome
Hepatomegaly, Hyperbilirubinemia, Elevated circulating alkaline phosphatase concentration, Spleno... OMIM:613471
Chylomicron Retention Disease
Acanthocytosis, Elevated hepatic transaminase, Hypocholesterolemia, Increased hepatocellular lipi... ORPHA:71
Postinfectious Vasculitis
Bacterial endocarditis, Inflammatory abnormality of the skin, Elevated circulating C-reactive pro... ORPHA:48435
Gaucher Disease
Osteomyelitis, Elevated circulating C-reactive protein concentration, Hepatomegaly, Splenomegaly,... ORPHA:355
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatomegaly, Fair hair, Hepatosplenomegaly, Cholestasis, Congenital hepatic fibrosis, Hepatic fi... OMIM:266920
Elliptocytosis 1
Hemolytic anemia, Elliptocytosis, Jaundice, Splenomegaly OMIM:611804
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Hyperammonemia, Hypoglycemia, Decreased plasma carnitine, Hyperuricemia, Anemia OMIM:246450
Arima Syndrome
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly OMIM:243910
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Abnormality of... OMIM:610131
Relapsing Polychondritis
Keratitis, Conjunctivitis, Chondritis, Myocarditis, Arthritis, Hepatitis, Uveitis, Recurrent apht... ORPHA:728
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Hepatic failure, Increased serum pyruvate, Hyperprolinemia, Hyperglutaminemia, Elevated circulati... OMIM:619355
Hyperlipoproteinemia, Type Id
Colitis, Hyperlipoproteinemia, Pancreatitis, Hepatomegaly, Splenomegaly, Decreased HDL cholestero... OMIM:615947
Primary Sjögren Syndrome
Chronic active hepatitis, Lymphadenopathy, Arthritis, Arteritis, Lymphopenia, Chronic hepatitis, ... ORPHA:289390
Meckel Syndrome 14
Hepatic fibrosis OMIM:619879
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Insulin-resist... OMIM:262190
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Left ventricular hypertrophy, Hepatic fibrosis, Biliary ... OMIM:209900
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hyperammonemia, Elevated creatine... ORPHA:159
Kawasaki Disease
Cheilitis, Conjunctivitis, Leukocytosis, Skin rash, Cervical lymphadenopathy, Myocarditis, Cholec... ORPHA:2331
Cryohydrocytosis
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly OMIM:185020
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cholelithiasis, Bacterial endocarditis, Splenomegaly, Hepatosplenomegaly, Abnormality of the sple... ORPHA:2072
Mirizzi Syndrome
Cholelithiasis, Pancreatitis, Hyperbilirubinemia, Jaundice, Elevated circulating alkaline phospha... ORPHA:521219
Acute Disseminated Encephalomyelitis
Myelitis, Optic neuritis, Viral hepatitis, Herpes simplex encephalitis ORPHA:83597
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Hyperlipidemia ORPHA:2089
Fanconi Anemia, Complementation Group V
Elevated alpha-fetoprotein, Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Short Rib-Polydactyly Syndrome
Hepatic fibrosis, Abnormality of the liver, Hepatic cysts ORPHA:1505
Gamma-Heavy Chain Disease
Hepatomegaly, Skin rash, Splenomegaly, Rheumatoid arthritis, Autoimmune thrombocytopenia, Abnorma... ORPHA:100026
Joubert Syndrome 1
Hepatic fibrosis OMIM:213300
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated circulating C-reactive protein concentration, Hepatomegaly, Eczema, Pancytopenia, Bone m... OMIM:615688
Acute Liver Failure
Hepatocellular necrosis, Skin rash, Hyperammonemia, Elevated hepatic transaminase, Hepatitis, Hep... ORPHA:90062
Glycogen Storage Disease Ib
Hyperlipidemia, Pancreatitis, Hepatomegaly, Splenomegaly, Pancreatic fibrosis, Hepatocellular car... OMIM:232220
Simple Cryoglobulinemia
Viral hepatitis, Nephritis, Membranoproliferative glomerulonephritis, Arthritis, Chronic lymphati... ORPHA:91139
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Abnormal enzyme/coenzyme activity, Neonatal hypoglycemia, Hypoglycemia, Elevated he... ORPHA:348
Common Variable Immunodeficiency