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Gene: Glmp MGI:1913318

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

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 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
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increas... OMIM:616860
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... OMIM:614480
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... OMIM:619658
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Hyperpigmentation of the skin, Increased circulating... OMIM:613313
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia OMIM:606664
Iron Overload, Susceptibility To
Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat... OMIM:620121
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple... OMIM:615234
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... OMIM:616278
Hemochromatosis, Type 5
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... OMIM:615517
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra... ORPHA:139507
Combined Low Ldl And Fibrinogen
Elevated circulating aspartate aminotransferase concentration, Decreased LDL cholesterol concentr... OMIM:620364
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Abn... ORPHA:101330
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619874
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... ORPHA:254704
Gracile Syndrome
Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce... ORPHA:53693
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Increased circulating ferritin concentration, Reticulocytopenia, A... ORPHA:300298
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Prolonged neo... OMIM:231100
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... OMIM:206100
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased serum iron, Congenital hepatic fibrosis, ... ORPHA:446
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni... OMIM:278000
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Acne, Recurrent skin infection... OMIM:300635
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619662
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ... OMIM:271500
Hepatocellular Carcinoma
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis OMIM:613783
Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, With Or Without Cerebellar Ataxia
Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentration, Elevate... OMIM:310490
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... OMIM:603471
Hjv Or Hamp-Related Hemochromatosis
Elevated hepatic transaminase, Generalized hyperpigmentation, Increased circulating ferritin conc... ORPHA:79230
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:232400
Beta-Thalassemia Intermedia
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... ORPHA:231222
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis OMIM:616719
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hyperlipidemia, Portal fibrosis, Hepatic fibrosis, C... ORPHA:369
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Howell-Jolly bo... OMIM:613759
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Macrophage Activation Syndrome
Hepatomegaly, Increased inflammatory response, Hypertriglyceridemia, Elevated circulating asparta... ORPHA:158061
Porphyria Cutanea Tarda, Type I
Hepatic fibrosis, Eczema, Hyperpigmentation of the skin OMIM:176090
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... OMIM:205950
Bile Acid Malabsorption, Primary, 2
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619481
Fadd-Related Immunodeficiency
Hepatic fibrosis, Decreased liver function ORPHA:306550
Aceruloplasminemia
Refractory anemia, Abnormal circulating enzyme concentration or activity, Abnormality of retinal ... ORPHA:48818
Coach Syndrome 2
Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce... OMIM:619111
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:619868
Cholestasis, Progressive Familial Intrahepatic, 6
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periporta... OMIM:619484
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatic failure, Hepatitis ORPHA:60
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... OMIM:600803
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... OMIM:616828
Pediatric Hepatocellular Carcinoma
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat... ORPHA:33402
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, ... OMIM:232700
Hepatorenocardiac Degenerative Fibrosis
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Hepatosplenomegaly, ... OMIM:619902
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,... OMIM:607765
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, ... ORPHA:567983
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... OMIM:616829
Hepatoportal Sclerosis
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... ORPHA:64743
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Reticulocytosis, Splenomegaly, Increased circulating ferritin concentration, Jaundi... OMIM:194380
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology ORPHA:3032
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Membranoproliferative glomerulonephritis, Chilblains, Intestinal inflammation, Hepa... OMIM:619858
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase OMIM:618400
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:620010
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:615395
Caroli Disease
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Hepatic fibrosis, Elevated gamma-gluta... ORPHA:53035
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly ORPHA:466794
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating lactate dehydrogenase concentration, Hepatomegaly, Elevated circulating ala... OMIM:605911
Mpi-Cdg
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Portal hypertension, Hypoalb... ORPHA:79319
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... OMIM:237800
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophi... ORPHA:829
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Reduced red cell pyruvate kinase level, Splenomegaly, Increased ci... ORPHA:766
Sea-Blue Histiocyte Disease
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... OMIM:269600
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Ulcerative colitis, Anemia, Elevated circulating C-reactive protein concentration OMIM:619398
Retinitis Pigmentosa 89
Micronodular cirrhosis, Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatosplenomegaly OMIM:618955
Complement Component 4B Deficiency
Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia OMIM:614379
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hyper... OMIM:618641
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ... ORPHA:848
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli... OMIM:214900
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia, Elevated leukocyte alkaline phosphatase OMIM:162830
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp... ORPHA:2137
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co... ORPHA:79303
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Elevated hepatic transaminase, Cholestatic liver disease OMIM:602114
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbilirubinemia, Int... OMIM:617093
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... OMIM:214950
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, White hair, Silver-gray hair, H... ORPHA:381
Reticuloendotheliosis, X-Linked
Jaundice, Anemia, Hepatosplenomegaly OMIM:312500
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia OMIM:261650
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hypertriglyceridemia, Hepatic fibrosis ORPHA:280356
Congenital Disorder Of Glycosylation, Type Iih
Interface hepatitis, Elevated serum transaminases during infections, Elevated circulating asparta... OMIM:611182
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Throm... ORPHA:905
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Periportal fibrosis OMIM:213010
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Hemoglobin H Disease
Hepatomegaly, Hemolytic anemia, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Cyanosis, Transient Neonatal
Hepatomegaly, Reticulocytosis, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia OMIM:609016
Combined Oxidative Phosphorylation Deficiency 14
Copper accumulation in liver, Anemia, Elevated hepatic iron concentration, Increased hepatic glyc... OMIM:614946
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Splenomegaly, Bronchiectasis, Cirrhosis, Hepatocellular carcinoma,... OMIM:613490
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Hyperpigmentation of the skin, Splenomegaly, Abnormality of iron h... ORPHA:75563
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration... OMIM:251880
Gilbert Syndrome
Elevated hepatic transaminase, Jaundice, Hepatic failure, Unconjugated hyperbilirubinemia OMIM:143500
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Skin rash OMIM:619175
Diarrhea 13
Elevated hepatic transaminase, Hepatic steatosis, Hypoalbuminemia OMIM:620357
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated... OMIM:615158
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... OMIM:610717
Hemochromatosis, Type 3
Elevated hepatic transaminase, Hyperpigmentation of the skin, Increased circulating ferritin conc... OMIM:604250
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Skin rash, Splenomegaly, Increased circulating ferritin conce... OMIM:603552
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hypoglycemia OMIM:601820
Primary Biliary Cholangitis
Portal hypertension, Conjugated hyperbilirubinemia, Jaundice, Hepatic failure, Biliary cirrhosis,... ORPHA:186
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Elevated circulating aspartate aminotransferase... OMIM:613752
Congenital Isolated Acth Deficiency
Hyponatremia, Hyperkalemia, Hepatitis, Hypoglycemic seizures, Prolonged neonatal jaundice, Neonat... ORPHA:199296
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure, Hash... OMIM:618549
Systemic Primary Carnitine Deficiency
Elevated hepatic transaminase, Hepatomegaly ORPHA:158
Atransferrinemia
Abnormality of the liver, Hypochromic anemia, Atransferrinemia OMIM:209300
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... OMIM:606069
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... ORPHA:79095
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:264580
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Hepatic failure, Lymphangiectasis OMIM:602579
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Pancytopenia, Portal hypertension, Premature graying of hair, Hepatic fibrosis, Bone marrow hypoc... OMIM:617341
Interstitial Lung And Liver Disease
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615486
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Abnormality of the tonsils, Skin... ORPHA:47
Immunodeficiency 47
Elevated hepatic transaminase, Hepatomegaly, Accessory spleen, Normocytic anemia, Decreased circu... OMIM:300972
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:615895
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Portal inflammat... OMIM:602347
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Congenital Atransferrinemia
Abnormality of the pancreas, Anemia, Arthritis ORPHA:1195
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Atretic gallbladder, ... ORPHA:30391
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Splenomegaly, Patent ductus arteriosus, Micronodular cirrhosis, Throm... OMIM:606003
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Decreased beta-galactosidase activity, Hypergalactosemia OMIM:230350
Citrullinemia Type Ii
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... ORPHA:247585
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Decreased serum zinc, Hepatic fib... ORPHA:541423
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel... OMIM:607616
Cholestasis, Intrahepatic, Of Pregnancy, 1
Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Abnormal liver function tests ... OMIM:147480
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Adams-Oliver Syndrome 6
Splenomegaly, Hepatic fibrosis, Portal hypertension OMIM:616589
Protoporphyria, Erythropoietic, X-Linked
Elevated hepatic transaminase, Cholelithiasis, Iron deficiency anemia, Increased erythrocyte prot... OMIM:300752
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... OMIM:607626
Caroli Syndrome
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... ORPHA:480520
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:79240
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, Hepatosplenomegaly, Otitis... ORPHA:169160
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Congenital Bile Acid Synthesis Defect Type 1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... ORPHA:79301
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Hepatic failure OMIM:615630
Congenital Enterovirus Infection
Abnormal macrophage morphology, Skin rash, Fetal ascites, Thrombocytopenia, Leukocytosis, Myocard... ORPHA:292
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma ORPHA:882
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Ascites, Increased total bilirubin ORPHA:890
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, Jaund... OMIM:615631
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Hyperpigmentat... ORPHA:231226
Graft Versus Host Disease
Elevated hepatic transaminase, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammat... ORPHA:39812
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio... OMIM:308240
Preeclampsia/Eclampsia 1
Elevated hepatic transaminase, Thrombocytopenia OMIM:189800
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia, Neutrope... OMIM:304790
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hypoalbuminemia, Hepatic fibrosis... ORPHA:171
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Hypocalcemia, Lymphocytosis, El... OMIM:619991
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Decreased proportion of CD4-positive T cells, Jaundi... OMIM:301045
Senior-Loken Syndrome
Congenital hepatic fibrosis, Abnormality of retinal pigmentation ORPHA:3156
Bile Acid Conjugation Defect 1
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:619232
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa... ORPHA:209902
Dpm1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:79322
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Card... OMIM:201475
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice OMIM:179700
Senior-Boichis Syndrome
Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con... ORPHA:84081
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, El... OMIM:235555
Trichohepatoenteric Syndrome 2
Hepatomegaly, Decreased serum iron, Chronic hepatitis, Colitis, Cirrhosis OMIM:614602
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:614921
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:600649
Avian Influenza
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu... ORPHA:454836
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia OMIM:608898
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, H... OMIM:306000
Hemochromatosis, Type 2A
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Azoospermia, Arthritis,... OMIM:602390
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm... ORPHA:562639
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Eosinophilia, Pustule, Myocardit... ORPHA:139402
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Immunodeficiency 56
Cholangitis, Recurrent pneumonia, Bronchiectasis, Cirrhosis, Chronic hepatitis due to cryptospori... OMIM:615207
Immunodeficiency 69
Pancytopenia, Skin rash, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis... OMIM:618963
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hepatitis ORPHA:363523
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Hyperammonemia, Hyperornithinemia, Decreased liver function, Acute hepatitis OMIM:238970
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, In... ORPHA:210136
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Coach Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Abnormal abdomen ... OMIM:216360
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa... ORPHA:75234
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... ORPHA:79302
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia, Prolonged neonatal jaundice OMIM:262400
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Nephronophthisis 16
Enlarged kidney, Periportal fibrosis, Patent ductus arteriosus, Cholestasis OMIM:615382
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,... OMIM:613404
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Increased circulating lactate dehydrogenase concentration, Mac... ORPHA:3202
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Abnormal blood ion concentration, Iron deficiency anemia, Tubulointerstitial nephritis,... ORPHA:37042
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... OMIM:208540
Meckel Syndrome, Type 3
Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate OMIM:607361
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia ORPHA:172
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Hepatitis, Bronchiectasis, Arthri... ORPHA:33110
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Hemolytic anemia, Chronic oral candidiasis, Absence of lymph node germinal center, ... OMIM:308230
Beta-Thalassemia Major
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:231214
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hemolytic anemia, Pericarditis, ... OMIM:619487
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Congenital Respiratory-Biliary Fistula
Abnormality of the liver ORPHA:2040
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Reduced level of N-acetylglucosaminyltransferase II, Anemia of inadequate produc... OMIM:224100
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated hepatic transaminase, Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevat... ORPHA:158057
Joubert Syndrome 9
Hepatic fibrosis OMIM:612285
Senior-Loken Syndrome 9
Tubulointerstitial nephritis, Hepatic fibrosis, Cholestasis OMIM:616629
Cholestasis, Intrahepatic, Of Pregnancy 3
Abnormal liver function tests during pregnancy, Increased serum bile acid concentration during pr... OMIM:614972
Legionnaires Disease
Hyponatremia, Pericarditis, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Lymphad... ORPHA:549
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diab... ORPHA:324575
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... OMIM:615415
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Conjugated hyperbilirubinemia, Hepatic melan... OMIM:208085
Propionic Acidemia
Propionyl-CoA carboxylase deficiency, Hepatomegaly, Hypoglycemia, Hyperammonemia ORPHA:35
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Hemolyti... OMIM:613673
Isolated Sedoheptulokinase Deficiency
Portal hypertension, Hepatitis, Cholestasis, Hypochromic microcytic anemia, Cholestatic liver dis... ORPHA:440713
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C... ORPHA:54251
Melioidosis
Brain abscess, Foot osteomyelitis, Liver abscess, Lung abscess, Pneumonia, Abnormality of the spl... ORPHA:31202
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi... OMIM:613027
Lysosomal Acid Lipase Deficiency
Hyponatremia, Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia... ORPHA:275761
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Reduced level of N-acetylglucosaminyltransferase... OMIM:224120
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal... ORPHA:1414
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration OMIM:612937
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Pancreatic cysts, S... OMIM:610199
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... OMIM:619463
Dpm3-Cdg
Elevated hepatic transaminase, Elevated creatine kinase after exercise ORPHA:263494
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st... OMIM:605814
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:255120
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Nonspherocytic h... OMIM:235700
Lichen Planopilaris
Hypopigmented skin patches, Hepatitis ORPHA:525
Laurence-Moon Syndrome
Congenital hepatic fibrosis, Cryptorchidism ORPHA:2377
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Skin rash, Abnormal CD4:CD8 ratio, Autoimmu... ORPHA:572
Harderoporphyria
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased circulating ferritin con... OMIM:618892
Glycogen Storage Disease Ixb
Hepatomegaly, Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content OMIM:261750
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Increased circulating ferritin concent... OMIM:235200
Cryoglobulinemic Vasculitis
Hepatomegaly, Viral hepatitis, Splenomegaly, Mediastinal lymphadenopathy, Arthritis, Abnormality ... ORPHA:91138
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... ORPHA:507
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Splenomegaly, Intermittent... OMIM:601847
Trichohepatoenteric Syndrome 1
Hepatomegaly, Increased mean platelet volume, Abnormality of the pancreas, Jaundice, Splenomegaly... OMIM:222470
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Hypopigmentation of hair, Partial albinism, Splenomegaly, Hyperlipide... ORPHA:79477
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly, Lymphocytosis OMIM:606445
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Increased cir... ORPHA:36234
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Seborrheic dermatitis, Microvesicular hepatic steatosis, Patent ductus arteriosus, ... OMIM:300868
Nodular Regenerative Hyperplasia Of The Liver
Portal hypertension, Abnormality of the hepatic vasculature ORPHA:48372
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Cholestasis, Hypokalemia, Portal fibrosis, Hepatic fibrosis, In... OMIM:619377
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Pancytopenia, Hypoglycemia, Elevated circulating creatinine concentration, Increase... OMIM:617872
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hepatic failure, Hypoglycemia, Hyperammonemia ORPHA:664
Argininosuccinic Aciduria
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperglutaminemia, H... OMIM:207900
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... OMIM:613101
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Increased serum pyruvate, Elevated hepatic transaminase, Hypoglycemia, Hyperammonemia, Elevated c... OMIM:615160
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Chronic hepatitis, Keratoconjunctivitis, ... OMIM:269200
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... OMIM:263200
Sickle Cell Anemia
Pigment gallstones, Hemolytic anemia, Osteomyelitis, Reticulocytosis, Thrombocytosis, Microcytic ... ORPHA:232
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema... ORPHA:781
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Hypoalb... OMIM:277900
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kina... OMIM:266200
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Congenital Myopathy 11
Elevated hepatic transaminase, Patent ductus arteriosus, Abnormal circulating creatine kinase con... OMIM:619967
Immunodeficiency 42
Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu... OMIM:616622
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, E... ORPHA:731
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Acute hepatic failure, Pancytopenia, Cholangitis, Portal hypertension, Hypersplenism, Hepatitis, ... ORPHA:228426
Farber Disease
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Intrahepati... ORPHA:333
Heme Oxygenase 1 Deficiency
Hepatomegaly, Hemolytic anemia, Thrombocytosis, Elevated circulating aspartate aminotransferase c... OMIM:614034
Hypermanganesemia With Dystonia 1
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa... OMIM:613280
Overhydrated Hereditary Stomatocytosis
Reticulocytosis, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Abetalipoproteinemia
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Reticulocyt... ORPHA:14
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circu... OMIM:619386
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Membranoprolife... OMIM:619644
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Hypoglycemic seizures, Incr... ORPHA:293964
Syndromic Diarrhea
Hepatomegaly, Hypopigmentation of hair, Gastritis, Increased mean platelet volume, Splenomegaly, ... ORPHA:84064
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... OMIM:301068
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Reticulated skin pigmentation, Premature graying of hair, Leukopen... OMIM:613989
Trimethylaminuria
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia OMIM:602079
Benign Recurrent Intrahepatic Cholestasis
Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He... ORPHA:65682
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr... ORPHA:69663
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste... OMIM:612526
Formiminoglutamic Aciduria
Anemia, Abnormal circulating enzyme concentration or activity, Abnormal circulating histidine con... ORPHA:51208
Congenital Disorder Of Glycosylation, Type Iiq
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu... OMIM:617395
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Abnormal lactate dehydrogenase level, Macrothrombo... ORPHA:67044
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Cholangitis, Biliary tract abnormality, Chronic mucocutaneous candidiasis, Colit... OMIM:209920
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:228305
Peroxisome Biogenesis Disorder 1B
Hyperoxaluria, Hepatic fibrosis, Cirrhosis, Hepatomegaly OMIM:601539
Mcleod Syndrome
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:300842
Indolent Systemic Mastocytosis
Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Lymphadenopathy, Increased propor... ORPHA:98848
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Decrea... OMIM:619048
Immunodeficiency 27A
Increased inflammatory response, Pneumonia, Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosp... OMIM:209950
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly OMIM:273680
Congenital Disorder Of Glycosylation, Type Iij
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Elevated circulating alkaline phosphat... OMIM:613489
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C... OMIM:619802
Alstrom Syndrome
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Chronic act... OMIM:203800
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... OMIM:616649
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoa... OMIM:619013
Cholestasis, Progressive Familial Intrahepatic, 5
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:617049
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, B... OMIM:226990
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia OMIM:240900
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Iridocyclitis, Hepatitis, Bil... ORPHA:227990
Mednik Syndrome
Cirrhosis, Cholestasis, Hepatic fibrosis, Increased circulating very long-chain fatty acid concen... OMIM:609313
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... OMIM:182900
Aspergillosis
Sinusitis, Osteomyelitis, Eosinophilia, Pneumonia, Keratitis, Hepatitis, Bronchiectasis, Neutrope... ORPHA:1163
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Macrocytic anemia, Hepatic st... OMIM:615438
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Congenital hepatic fibrosis, Sp... ORPHA:1454
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia OMIM:612653
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Maculopapular exanthema, Skin ... ORPHA:540
Donohue Syndrome
Hepatic fibrosis, Pancreatic islet-cell hyperplasia, Cholestasis, Hypermelanotic macule OMIM:246200
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hepatitis, Hyperammonemia, Hyperornithinemia, Decrea... ORPHA:415
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Hyperprolinemia, Hyperalaninemia OMIM:619064
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Hypoalbuminemia, Hepatic fibrosis, Hyp... OMIM:212065
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Bardet-Biedl Syndrome
Cryptorchidism, Hepatic fibrosis, Pigmentary retinopathy ORPHA:110
Myasthenia Gravis
Hemolytic anemia, Myositis, Pure red cell aplasia, Hepatitis, Rheumatoid arthritis, Glycosuria, H... ORPHA:589
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hypoglycemia, Low plasma citrulline, Elevated circulating alanine aminotransferase ... OMIM:261680
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Hyperlipidemia ORPHA:329249
Liver Failure, Infantile, Transient
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... OMIM:613070
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Sinusitis, Pneumonia, Atypical or p... ORPHA:83471
Cirrhosis, Familial
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Increased level of prop... OMIM:215600
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Pancytopenia, Portal hypertension, Hypersplenism, Splenomegaly, Hepatitis, Hashimot... OMIM:613385
Anemia, Congenital Dyserythropoietic, Type Iiia
Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemia, Jaundice, Incr... OMIM:105600
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu... OMIM:242150
Inflammatory Pseudotumor Of The Liver
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro... ORPHA:90003
Late-Onset Isolated Acth Deficiency
Hyponatremia, Normocytic anemia, Macrocytic anemia, Hypoglycemia, Hypercalcemia, Eosinophilia, Hy... ORPHA:199299
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Iridocyclitis, Hepatitis, Bil... ORPHA:227982
Budd-Chiari Syndrome
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... ORPHA:131
Dyskeratosis Congenita, Autosomal Recessive 1
Pancytopenia, Aplastic anemia, Hyperpigmentation of the skin, Reticular hyperpigmentation, Hepati... OMIM:224230
Telangiectasia, Hereditary Hemorrhagic, Type 5
Elevated hepatic transaminase, Portal hypertension OMIM:615506
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve... ORPHA:247598
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Hypercholesterolemia, Incr... OMIM:620211
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Eleva... OMIM:611881
Vitamin B12-Responsive Methylmalonic Acidemia
Anemia, Hepatomegaly, Hyperammonemia ORPHA:28
Megaloblastic Anemia, Folate-Responsive
Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto... OMIM:601775
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Abnormal muscle glycogen conten... ORPHA:367
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Increased serum iro... ORPHA:98870
Autoimmune Lymphoproliferative Syndrome
Uveitis, Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8... ORPHA:3261
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:42
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Pancytopenia, Sk... OMIM:603553
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Sea-Blue Histiocytosis
Hepatomegaly, Hypopigmentation of the skin, Hyperpigmentation of the skin, Splenomegaly, Mediasti... ORPHA:158029
Refractory Celiac Disease
Elevated hepatic transaminase, Normocytic anemia, Macrocytic anemia, Inflammatory abnormality of ... ORPHA:398063
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Orthostatic Hypotension 2
Hypoglycemia, Anemia OMIM:618182
Meckel Syndrome, Type 6
Absent gallbladder, Cystic liver disease, Bile duct proliferation, Hepatic fibrosis, Hepatic cysts OMIM:612284
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl... OMIM:211600
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Elevated hepatic transaminase, Neutropenia, Exocrine pancreatic insufficiency OMIM:618752
Joubert Syndrome 6
Bile duct proliferation, Hepatic fibrosis OMIM:610688
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, T l... OMIM:619381
Ebola Hemorrhagic Fever
Acute pancreatitis, Maculopapular exanthema, Hepatitis, Leukopenia, Lymphopenia, Thrombocytopenia ORPHA:319218
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Elevated circulating C-reactive protein ... ORPHA:85414
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Elevated hepatic transaminase, Accessory spleen, Severe B lymphocytopenia, Portal hypertension, T... OMIM:620005
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Superficial dermal p... ORPHA:284426
Mucopolysaccharidosis Type 7
Splenomegaly, Ascites, Hepatitis ORPHA:584
Rh-Null, Regulator Type
Hemolytic anemia, Jaundice, Stomatocytosis, Unconjugated hyperbilirubinemia OMIM:268150
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... OMIM:267700
Infantile Liver Failure Syndrome 2
Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Hyperammonemia OMIM:616483
Cystic Echinococcosis
Elevated hepatic transaminase, Hepatomegaly, Abnormal peritoneum morphology, Eosinophilia, Absces... ORPHA:400
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Polycystic liver disease, Pancreatic fibrosis, Conjugated hyperbilirubinemia, Pancreatic cysts, J... OMIM:208500
Rh Deficiency Syndrome
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anisocytosis, Jaundice, Spherocytosis, Hepa... ORPHA:71275
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Enlarged kidney OMIM:200995
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Neonatal Lupus Erythematosus
Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Mac... ORPHA:398124
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Psoriasi... OMIM:243150
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Hemolytic anemia, Generalized lymphadenopathy, Pancytopenia, Atrophic gastritis, Ch... OMIM:615846
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Viral hepatitis, Chronic gastritis, Liver abscess, Psoriasiform dermatitis, Cholangitis, Pneumoni... ORPHA:183675
Transaldolase Deficiency
Thrombocytopenia, Hepatosplenomegaly, Abnormal circulating glutamine concentration, Cirrhosis, In... ORPHA:101028
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... OMIM:613011
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Myositis, Hypertriglyceridemia, Sinusitis, Skin rash... OMIM:617591
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Chronic active hepatitis, Asplenia, Iridocyclitis, Chronic mucocutaneous cand... OMIM:240300
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Jaundice, Leukocytosis, Unconjugated hyperbilirubine... OMIM:300908
Immunodeficiency 102
Hepatomegaly, Recurrent skin infections, Nodular regenerative hyperplasia of liver, Autoimmune th... OMIM:301082
Hemophagocytic Syndrome Associated With An Infection
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circul... ORPHA:158048
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Infectious encephalit... ORPHA:2552
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia, Elevated circulating creatine kinase concentration, Anemia OMIM:618838
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,... OMIM:307200
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Transient hyperlipidemia ORPHA:156
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Increased circulating lactate dehydrogenase concent... OMIM:210250
Pyruvate Carboxylase Deficiency
Increased serum pyruvate, Hyperalaninemia, Hypoglycemia, Hepatomegaly OMIM:266150
Combined Oxidative Phosphorylation Deficiency 40
Hypoglycemia, Elevated circulating creatine kinase concentration, Anemia, Decreased liver function OMIM:618835
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Pancytopenia, Hepatocellular adenoma, Hepatitis, Cholestasis, La... ORPHA:562
Anemia, Sideroblastic, 1
Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ... OMIM:300751
Combined Oxidative Phosphorylation Deficiency 42
Hypoglycemia, Elevated circulating creatine kinase concentration, Anemia, Decreased liver function OMIM:618839
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis OMIM:263210
Elliptocytosis 3
Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr... OMIM:617948
Hereditary Spherocytosis
Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Maculopapular exanthema, Spontaneous... ORPHA:822
Acute Erythroid Leukemia
Anemia, Erythroid hypoplasia, Pancytopenia, Leukopenia ORPHA:318
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating creatine kinase concentration, ... ORPHA:369840
Relapsing Fever
Elevated hepatic transaminase, Neutrophilia, Elevated circulating C-reactive protein concentratio... ORPHA:91547
Spondyloenchondrodysplasia
Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmune thrombocytopenia, Hep... ORPHA:1855
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, ... OMIM:300755
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology ORPHA:1332
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Nephronophthisis 11
Hepatic fibrosis, Anemia OMIM:613550
Becker Muscular Dystrophy
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration ORPHA:98895
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentration, Elevate... OMIM:620138
Wolcott-Rallison Syndrome
Hyponatremia, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Hyper... ORPHA:1667
Nephronophthisis 3
Hepatic fibrosis OMIM:604387
Adams-Oliver Syndrome
Portal hypertension, Congenital hepatic fibrosis, Leukopenia, Cirrhosis, Ascites, Thrombocytopenia ORPHA:974
Fish-Eye Disease
Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy, Hepatomegaly ORPHA:79292
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, P... OMIM:618398
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Inflammatory abnormality of the skin, Eczema, Autoimmune thrombocyto... ORPHA:391487
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Microvesicular he... OMIM:617156
Idiopathic Hypereosinophilic Syndrome
Generalized lymphadenopathy, Cholangitis, Colitis, Neutrophilia, Leukocytosis, Chronic hepatitis,... ORPHA:3260
Generalized Pustular Psoriasis
Hyponatremia, Elevated hepatic transaminase, Elevated circulating C-reactive protein concentratio... ORPHA:247353
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Ascites, Hepatic fibrosis OMIM:614091
Chronic Mucocutaneous Candidiasis
Cheilitis, Skin rash, Hepatitis ORPHA:1334
Aceruloplasminemia
Diabetes mellitus, Decreased serum iron, Increased circulating ferritin concentration, Acerulopla... OMIM:604290
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Cryptorchidism, Elevated circu... OMIM:615381
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... ORPHA:309854
Rift Valley Fever
Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Uveitis, Anemia, Infectious enceph... ORPHA:319251
Lesch-Nyhan Syndrome
Anemia, Hyperuricemia, Gout ORPHA:510
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Thrombocytopenia, Hyperammonemia, Leukopenia, Pancreatitis, Anemia ORPHA:27
Galactokinase Deficiency
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Hypoglycemia, Hyperinsulinem... ORPHA:79237
Cinca Syndrome
Skin rash, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Uve... OMIM:607115
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Elevated hepatic transaminase, Cholangitis, Microvesicular hepatic steatosis, C... OMIM:124000
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia ORPHA:163596
Mitochondrial Trifunctional Protein Deficiency 1
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Ele... OMIM:609015
Interstitial Nephritis, Karyomegalic
Elevated hepatic transaminase, Tubulointerstitial nephritis, Elevated circulating creatinine conc... OMIM:614817
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Elevated circulating acylcarnitine concentr... ORPHA:99901
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr... ORPHA:100085
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Genetic Recurrent Myoglobinuria
Elevated hepatic transaminase, Myositis, Abnormality of glycolipid metabolism, Hyperkalemia, High... ORPHA:99845
Leptospirosis
Hepatomegaly, Pericarditis, Skin rash, Jaundice, Hepatitis, Uveitis, Lymphadenopathy, Hyperprotei... ORPHA:509
Bleeding Disorder, Platelet-Type, 16
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Thrombocytopenia OMIM:187800
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam... ORPHA:71212
Blue Diaper Syndrome
Elevated hepatic transaminase, Hyperphosphatemia, Hypercalcemia ORPHA:94086
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypouricemia, Hypoglycemia, Glyco... OMIM:616026
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ... OMIM:603554
Cadds
Elevated hepatic transaminase, Cholestasis, Cholangitis, Increased circulating very long-chain fa... ORPHA:369942
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Hepatic steatosis, Exocrine pancreatic insuf... OMIM:616263
Congenital Disorder Of Deglycosylation 1
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration... OMIM:615273
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Congenital hepatic fibrosis ORPHA:2031
Intrahepatic Cholestasis Of Pregnancy
Elevated hepatic transaminase, Skin rash, Abnormality of the pancreas, Jaundice, Elevated circula... ORPHA:69665
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:212138
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Lymphadenopath... OMIM:301078
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis OMIM:201450
Acute Generalized Exanthematous Pustulosis
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosino... ORPHA:293173
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Abnorm... ORPHA:98907
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:233710
Hyperlipoproteinemia, Type I
Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati... OMIM:238600
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis... OMIM:612840
Kawasaki Disease
Pericarditis, Skin rash, Myocarditis, Leukocytosis, Cervical lymphadenopathy, Jaundice, Hepatitis... ORPHA:2331
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Hyperammonemia, Tubulointerstitial nephritis,... OMIM:251000
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim... ORPHA:331206
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Hepatitis, Hypoplasia of the thymus, Rectal... ORPHA:436252
Chylomicron Retention Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Acanthocytosis, Hypocholesterolemia, Increas... ORPHA:71
Zygomycosis
Brain abscess, Fasciitis, Sinusitis, Pericarditis, Gastritis, Pustule, Mediastinal lymphadenopath... ORPHA:73263
Postinfectious Vasculitis
Abnormal circulating protein concentration, Viral hepatitis, Inflammatory abnormality of the skin... ORPHA:48435
Cranioectodermal Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Tubulointerstitial nephritis, Hepatic fib... OMIM:218330
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hype... ORPHA:79124
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Increased mean corpuscular ... OMIM:617021
Chédiak-Higashi Syndrome
Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, Periodo... ORPHA:167
Tyrosinemia, Type Iii
Hypertyrosinemia, Elevated hepatic transaminase OMIM:276710
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:233690
Amoebiasis Due To Entamoeba Histolytica
Elevated hepatic transaminase, Liver abscess, Lung abscess, Acute colitis, Leukocytosis, Elevated... ORPHA:67
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepatic fibrosis, Elevated gamma-glutamyltransfer... OMIM:619534
Gaucher Disease
Hepatomegaly, Pancytopenia, Osteomyelitis, Elevated circulating C-reactive protein concentration,... ORPHA:355
Immunodeficiency 21
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ... OMIM:614172
Relapsing Polychondritis
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Uveitis, Scle... ORPHA:728
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatomegaly, Cholangitis, Pancreatic cysts, Congenital hepatic fibrosis, Cholestasis, Hepatosple... OMIM:266920
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Biliary tract abnormality, Hepatic fibrosis, Left ventri... OMIM:209900
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Leukopenia, Tubulointerstitial nephritis, ... ORPHA:289390
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating acylcarnitine concentration, Hy... ORPHA:159
Acute Disseminated Encephalomyelitis
Viral hepatitis, Herpes simplex encephalitis, Optic neuritis, Myelitis ORPHA:83597
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Elevated circulating alpha-fetoprotein concentration, Neutropenia OMIM:617243
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Hepatomegaly, Interstitial pneumonitis, Anemia OMIM:620296
Elliptocytosis 1
Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis OMIM:611804
Hyperlipoproteinemia, Type Id
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... OMIM:615947
Tyrosinemia, Type I
Acute hepatic failure, Hypertyrosinemia, Hepatomegaly, Elevated hepatic transaminase, Elevated ci... OMIM:276700
Mirizzi Syndrome
Elevated hepatic transaminase, Pancreatitis, Jaundice, Elevated circulating alkaline phosphatase ... ORPHA:521219
Meckel Syndrome 14
Hepatic fibrosis OMIM:619879
Arima Syndrome
Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hepatic steatosis, Anemia OMIM:243910
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Joubert Syndrome 1
Hepatic fibrosis OMIM:213300
Reynolds Syndrome
Calcinosis, Hepatomegaly, Elevated hepatic transaminase, Erythema nodosum, Splenomegaly, Jaundice... OMIM:613471
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytopenia, Splenomegaly, ... ORPHA:100026
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia, Hepatosplenomegaly, Azoo... ORPHA:2072
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hyperlipidemia, N... OMIM:232220
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Portal hypertension, Thrombocytopenia, Type I diabetes mellitus, Lymphopenia, Anemia OMIM:620365
Acute Liver Failure
Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Hepatic necrosis, Hyperammonemia, ... ORPHA:90062
Simple Cryoglobulinemia
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Chronic lymphatic leukem... ORPHA:91139
Johanson-Blizzard Syndrome
Hepatomegaly, Fair hair, Elevated circulating aspartate aminotransferase concentration, Increased... OMIM:243800
Mitochondrial Trifunctional Protein Deficiency 2
Increased circulating NT-proBNP concentration, Hypoglycemia, Elevated circulating aspartate amino... OMIM:620300
Common Variable Immunodeficiency
Elevated hepatic transaminase, Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Splenome... ORPHA:1572
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibro... OMIM:557000
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Hepatom... OMIM:615688
Letterer-Siwe Disease
Seborrheic dermatitis, Thrombocytopenia, Jaundice, Hepatosplenomegaly, Neutropenia, Stomatitis, A... OMIM:246400
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:348
Copper Deficiency, Familial Benign
Decreased circulating copper concentration, Anemia, Seborrheic dermatitis OMIM:121270
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Leukopenia, Tubulointerstitial nephritis, Hepatomegaly, ... ORPHA:470
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho... ORPHA:456312
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Periportal fibrosis, Ascites OMIM:269860
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Recurrent sinusitis, Neutropenia,... OMIM:618849
Familial Pancreatic Carcinoma
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Hep... ORPHA:1333
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis OMIM:130600
Methylmalonic Aciduria, Cblb Type
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycin... OMIM:251110
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Anemia OMIM:618313
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Lujo Hemorrhagic Fever
Elevated hepatic transaminase, Maculopapular exanthema, Skin rash, Elevated circulating C-reactiv... ORPHA:319213
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Very long chain fatty acid acc... ORPHA:98908
Neutrophilic Dermatosis, Acute Febrile
Elevated circulating C-reactive protein concentration, Panniculitis, Cystic acne, Acne inversa, A... OMIM:608068
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pancreatic fibrosis, Hepatic fibrosis OMIM:263520
Turner Syndrome Due To Structural X Chromosome Anomalies
Elevated hepatic transaminase, Numerous congenital melanocytic nevi, Biliary cirrhosis, Thyroidit... ORPHA:99413
Turner Syndrome
Elevated hepatic transaminase, Numerous congenital melanocytic nevi, Biliary cirrhosis, Thyroidit... ORPHA:881
Mosaic Monosomy X
Elevated hepatic transaminase, Numerous congenital melanocytic nevi, Biliary cirrhosis, Thyroidit... ORPHA:99228
Monosomy X
Elevated hepatic transaminase, Numerous congenital melanocytic nevi, Biliary cirrhosis, Thyroidit... ORPHA:99226
Orofaciodigital Syndrome I
Pancreatic cysts, Hepatic fibrosis, Hepatic cysts OMIM:311200
Shigellosis
Hyponatremia, Hypoglycemia, Pneumonia, Myocarditis, Peritonitis, Leukocytosis, Thrombocytopenia, ... ORPHA:810
Meckel Syndrome
Accessory spleen, Pancreatic fibrosis, Asplenia, Congenital hepatic fibrosis, Pancreatic cysts, C... ORPHA:564
Kikuchi-Fujimoto Disease
Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Skin rash, Elevated cir... ORPHA:50918
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612924
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Gout, Hyperuricemia, F... OMIM:232200
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612926
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... OMIM:616959
Alg9-Cdg
Enlarged kidney, Hepatomegaly, Periportal fibrosis, Hepatic cysts ORPHA:79328
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Bicarbonaturia, Hyperuricemia, Hyperbiliru... OMIM:229600
Occipital Horn Syndrome
Esophagitis, Jaundice, Hepatitis, Cholestasis ORPHA:198
Diaphanospondylodysostosis
Abnormal liver lobulation OMIM:608022
Glycogen Storage Disease Ic
Hepatomegaly, Stomatitis, Cyclic neutropenia, Hypoglycemia, Chronic pancreatitis, Hyperlipidemia,... OMIM:232240
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... ORPHA:447
Alström Syndrome
Hypoplasia of the Leydig cells, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Otiti... ORPHA:64
Mosaic Trisomy 9
Asplenia, Abnormal liver lobulation ORPHA:99776
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hepatic arteriovenous malformation OMIM:175050
Pmm2-Cdg
Elevated hepatic transaminase, Pericarditis, Reduced thyroxin-binding globulin, Abnormal liver pa... ORPHA:79318
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Congenital hepatic fibrosis, Cryptorchidism ORPHA:93271
Sarcoidosis
Hepatomegaly, Portal hypertension, Abnormal liver parenchyma morphology, Decreased liver function... ORPHA:797
Telangiectasia, Hereditary Hemorrhagic, Type 2
Hepatic arteriovenous malformation, Cirrhosis OMIM:600376
Juvenile Polyposis Syndrome
Neoplasm of the pancreas, Hepatic arteriovenous malformation, Extrahepatic portal hypertension ORPHA:2929
Telangiectasia, Hereditary Hemorrhagic, Type 1
Hepatic arteriovenous malformation, Cirrhosis 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 Glmp

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 Glmp.

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

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Glmptm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Glmptm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Glmptm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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