Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
pyruvate kinase liver and red blood cell
Synonyms:
R-PK,  Pk-1,  Pk1

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 Pklr mutations

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... OMIM:237800
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia OMIM:140700
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... OMIM:205950
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Increased circulating lactate dehydrogenas... ORPHA:232
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Fetal Cytomegalovirus Syndrome
Splenomegaly, Anemia, Hepatomegaly ORPHA:294
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Increased circulating lactate dehydrogenase... ORPHA:3202
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Glutathione Peroxidase Deficiency
Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia OMIM:614164
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice OMIM:179700
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Spastic Paraplegia And Evans Syndrome
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia OMIM:601608
Intrinsic Factor Deficiency
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Increa... OMIM:261000
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Sideroblastic anemia OMIM:182170
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Glutamate-Cysteine Ligase Deficiency
Hepatosplenomegaly, Hemolytic anemia, Jaundice, Reticulocytosis ORPHA:33574
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Recurrent respiratory infections, Autoimmune thromb... OMIM:614470
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly ORPHA:46532
Glutathione Synthetase Deficiency
Hemolytic anemia, Reduced glutathione synthetase level ORPHA:32
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenom... OMIM:616860
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Persistent CMV viremia, Autoimmune thrombocytopenia... OMIM:617514
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia, Fava bean-induced hemolytic anemia OMIM:618660
Adenosine Triphosphatase Deficiency, Anemia Due To
Nonspherocytic hemolytic anemia OMIM:102800
Hemolytic Anemia With Thermal Sensitivity Of Red Cells
Congenital hemolytic anemia OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain
Compensated hemolytic anemia OMIM:142309
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane
Nonspherocytic hemolytic anemia OMIM:206300
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Increased mean corp... ORPHA:98870
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis OMIM:612126
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... OMIM:616278
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin con... OMIM:618892
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Hemolytic anemia, Glyoxalase deficiency, Reduced glutathione synthetase level OMIM:231900
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Reduced level of N-acetylglucosaminyltransferase... OMIM:224120
Malaria
Anemia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Thrombocytopenia ORPHA:673
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:230450
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia OMIM:612653
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... OMIM:235700
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... OMIM:616649
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Congenital Atransferrinemia
Abnormality of the pancreas, Anemia, Recurrent infections ORPHA:1195
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... OMIM:182900
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... OMIM:206100
Reticuloendotheliosis, X-Linked
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly OMIM:312500
Glycogen Storage Disease Vii
Hemolytic anemia, Reticulocytosis, Increased circulating lactate dehydrogenase concentration, Ele... OMIM:232800
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Normochromic ane... OMIM:245900
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... OMIM:300908
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Prolo... ORPHA:288
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:620010
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Elevat... OMIM:614034
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Splenomegaly, Anemia, Elevated hepatic transaminase ORPHA:75563
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Recu... OMIM:618849
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... OMIM:615234
Atypical Hemolytic Uremic Syndrome
Abnormal lactate dehydrogenase level, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Abnormal lactate dehydrogenase level, Microangiopathic hemolytic anemia, Decreas... ORPHA:54057
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia ORPHA:2802
Megaloblastic Anemia, Folate-Responsive
Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto... OMIM:601775
Glutathione Synthetase Deficiency
Hemolytic anemia, Reduced glutathione synthetase level, Neutropenia OMIM:266130
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Diamond-Blackfan Anemia 13
Normocytic anemia OMIM:615909
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hypertriglyceridemia, Elevat... ORPHA:158057
Familial Pseudohyperkalemia
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... ORPHA:90044
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Porphyria, Acute Hepatic
Hemolytic anemia OMIM:612740
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias OMIM:620044
Babesiosis
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Recurrent pharyngitis, Recurrent infectio... ORPHA:108
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Recurrent infections,... OMIM:615285
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:619868
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Increased circulating lactate dehydrogenase concent... OMIM:210250
Aicardi-Goutieres Syndrome 6
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly OMIM:615010
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundi... OMIM:194380
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hypokal... OMIM:611590
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Elevated transferrin saturation, Incre... OMIM:613313
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa... ORPHA:71275
Trimethylaminuria
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia OMIM:602079
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, In... OMIM:613839
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hepatoportal Sclerosis
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Hy... ORPHA:64743
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Recurrent respirator... OMIM:607616
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Recurrent infections, Decreased circulating total Ig... OMIM:619774
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis OMIM:130600
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Eosinophilia, Familial
Recurrent bronchitis, Eosinophilia, Thrombocytopenia, Leukocytosis, Anemia OMIM:131400
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Increased circulating ferritin concentration, Anisopoikilocytosis,... ORPHA:300298
Chromosome 5Q Deletion Syndrome
Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia OMIM:153550
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Hy... OMIM:617021
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Hypomethioninemia, Decreased methionine synthase activity, Megaloblastic ... OMIM:277410
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... ORPHA:822
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis ORPHA:713
Nephrotic Syndrome, Type 7
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia OMIM:615008
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia OMIM:611490
Phosphoglycerate Kinase 1 Deficiency
Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis OMIM:300653
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia OMIM:619398
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Recurrent respiratory infections, Decreased proportion of marginal zone B cells, Au... OMIM:619375
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Decreased serum iron, Meningitis, Increased circulating IgE level, Hypereo... OMIM:212050
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Splenomegaly, Recurrent infections, Decreased circulating total IgM, Lymphocytosis OMIM:606445
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Immunodeficiency With Hyper-Igm, Type 1
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo... OMIM:308230
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, BCGosis, ... OMIM:618963
Galactosemia I
Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, El... OMIM:230400
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Anemia, Abnormalit... ORPHA:848
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Hyperlysinemia, Type I
Hyperlysinemia, Anemia OMIM:238700
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Recurrent viral infections, Splenomegaly, Recurrent mycobacterial... ORPHA:169090
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter... OMIM:202700
Hemolytic Anemia, Congenital, X-Linked
Hemolytic anemia, Jaundice OMIM:301015
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Hemochromatosis, Type 5
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... OMIM:615517
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Increased circulating ferritin concentratio... OMIM:613101
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:601859
Nephronophthisis
Anemia ORPHA:655
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia OMIM:608898
Anemia, Autoimmune Hemolytic
Autoimmune hemolytic anemia OMIM:205700
Protoporphyria, Erythropoietic, 1
Hemolytic anemia, Hypertriglyceridemia, Cholelithiasis, Hepatic failure OMIM:177000
Hypermanganesemia With Dystonia 1
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa... OMIM:613280
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Rh-Null, Regulator Type
Hemolytic anemia, Jaundice, Stomatocytosis, Unconjugated hyperbilirubinemia OMIM:268150
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Recurrent respi... OMIM:618278
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphocytopenia, H... ORPHA:83471
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Eleva... OMIM:611881
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Majeed Syndrome
Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:609628
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis OMIM:266140
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Absence of lymph node germin... OMIM:608184
Hemochromatosis, Type 3
Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin... OMIM:604250
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve... ORPHA:247598
Immunodeficiency 46
Recurrent sinopulmonary infections, Chronic oral candidiasis, Intermittent thrombocytopenia, Seps... OMIM:616740
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia, Elevated leukocyte alkaline phosphatase OMIM:162830
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Cernunnos-Xlf Deficiency
Recurrent viral infections, Decreased circulating antibody level, Anemia, T lymphocytopenia, Recu... ORPHA:169079
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S... OMIM:615513
Acute Erythroid Leukemia
Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia ORPHA:318
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... OMIM:603903
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... ORPHA:86839
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, El... OMIM:615559
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... ORPHA:79303
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi... OMIM:300853
Elliptocytosis 3
Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr... OMIM:617948
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ... ORPHA:231222
Methylcobalamin Deficiency Type Cble
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Abnormality of the liver... ORPHA:2169
Immunodeficiency 104
Hepatomegaly, Splenomegaly, Recurrent opportunistic infections, Chronic mucocutaneous candidiasis... OMIM:608971
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... OMIM:267700
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli... OMIM:214900
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, J... OMIM:603552
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly OMIM:273680
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Jaundice, Schistocytosis, Elevated circulating creatinine concentration, Prolong... OMIM:274150
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Alpha-Heavy Chain Disease
Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascites, Anemia ORPHA:100025
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection... OMIM:616452
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Recurre... OMIM:618935
Wolcott-Rallison Syndrome
Hyponatremia, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, Jaundice, Hyper... ORPHA:1667
Chronic Bilirubin Encephalopathy
Neonatal sepsis, Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, N... ORPHA:529808
Acute Bilirubin Encephalopathy
Neonatal sepsis, Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, N... ORPHA:529799
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent respiratory infections, Decreased propor... OMIM:606367
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent bacterial infections, Recurrent vira... OMIM:310350
Ataxia-Pancytopenia Syndrome
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... ORPHA:2585
Cold Agglutinin Disease
Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly ORPHA:56425
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Elevated hepatic transaminase, Re... OMIM:603553
Glycogen Storage Disease Due To Aldolase A Deficiency
Hemolytic anemia, Elevated creatine kinase after exercise, Hyperkalemia, Reduced circulating aldo... ORPHA:57
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619874
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Thrombocytopenia OMIM:616744
Relapsing Fever
Elevated hepatic transaminase, Neutrophilia, Elevated circulating C-reactive protein concentratio... ORPHA:91547
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Recurrent viral infections, Sepsis, Le... ORPHA:811
Formiminoglutamic Aciduria
Abnormal circulating histidine concentration, Abnormal circulating enzyme concentration or activi... ORPHA:51208
Neonatal Lupus Erythematosus
Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Spl... ORPHA:398124
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... OMIM:613011
Immunodeficiency 32B
Hepatomegaly, Recurrent respiratory infections, Neutrophilia, Eosinophilia, Splenomegaly, BCGitis... OMIM:226990
Immunodeficiency 84
Splenomegaly, B lymphocytopenia, Recurrent bacterial infections OMIM:619437
Diamond-Blackfan Anemia 7
Macrocytic anemia, Recurrent infections, Increased mean corpuscular volume, Neutropenia, Recurren... OMIM:612562
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalem... OMIM:608885
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Increased circulating lactate dehydrogenase concentration, Anemi... OMIM:617780
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:615715
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... OMIM:235400
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... ORPHA:75564
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic anemia, Macrocytic dyserythropoietic anemia OMIM:619789
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Persistent EBV vir... OMIM:620282
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:603909
Paroxysmal Cold Hemoglobinuria
Recurrent respiratory infections, Autoimmune hemolytic anemia, Coombs-positive hemolytic anemia ORPHA:90035
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Recurrent respirat... OMIM:618495
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, El... OMIM:235555
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Sepsis, Hepatosplenomegal... OMIM:612840
Hemochromatosis, Type 4
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Cirr... OMIM:606069
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Re... OMIM:617052
Rotor Syndrome
Abnormal circulating enzyme concentration or activity, Conjugated hyperbilirubinemia, Jaundice, I... ORPHA:3111
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia OMIM:610539
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia, Increased total bilirubin ORPHA:90037
Anemia, Sideroblastic, 1
Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ... OMIM:300751
Immunodeficiency 48
Recurrent respiratory infections, Hepatomegaly, Absence of CD8-positive T cells, Splenomegaly, Re... OMIM:269840
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod... ORPHA:100024
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Elevated circulating C-reactive protein concentration, Fulminant hepatitis, Hypo... OMIM:308240
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... ORPHA:90038
Bleeding Disorder, Platelet-Type, 16
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... OMIM:187800
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio... OMIM:153670
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
Sea-Blue Histiocyte Disease
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... OMIM:269600
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Anemia ORPHA:1802
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia OMIM:612527
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Diamond-Blackfan Anemia 12
Macrocytic anemia, Reticulocytopenia, Normochromic anemia OMIM:615550
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Hemolytic anemia, Decreased HDL cholester... ORPHA:650
Systemic Lupus Erythematosus
Hemolytic anemia, Thrombocytopenia, Leukopenia OMIM:152700
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibro... OMIM:557000
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... OMIM:616959
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Severe infection, Increased circulating IgE level, Hep... OMIM:304790
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Recurrent respiratory infectio... OMIM:300635
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Beta-Thalassemia Major
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:231214
Paroxysmal Nocturnal Hemoglobinuria 2
Hemolytic anemia OMIM:615399
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:266120
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level OMIM:247800
Common Variable Immunodeficiency
Elevated hepatic transaminase, Hemolytic anemia, Recurrent respiratory infections, Autoimmune thr... ORPHA:1572
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly ORPHA:163596
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Recurrent infections, Anemia, Bone marrow hypocellularity, Neutr... ORPHA:88
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
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Increased circulating lactate dehydrogenase concentrat... ORPHA:86841
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Hepatic necrosis, Anemia, Leukopenia, Increased mean corpuscular volume, Bone ma... OMIM:127550
Bleeding Disorder, Platelet-Type, 19
Thrombocytopenia, Macrothrombocytopenia, Anemia OMIM:616176
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... ORPHA:79302
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Recurrent respiratory infections, Hepatomegaly ORPHA:139406
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes, ... OMIM:269920
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Abnormal lactate dehydrogenase level, Macrothrombo... ORPHA:67044
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Low neutrophil al... OMIM:245480
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612924
Caroli Syndrome
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Sepsis, Abnormal intrahepatic bile duc... ORPHA:480520
Reticular Dysgenesis
Recurrent respiratory infections, Abnormality of neutrophils, Sepsis, Decreased circulating antib... ORPHA:33355
Acute Myelomonocytic Leukemia
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia ORPHA:517
Immunodeficiency 21
Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal infections, Recu... OMIM:614172
Immunodeficiency 102
Severe varicella zoster infection, Sepsis, Leukopenia, Decreased circulating IgG level, Hepatomeg... OMIM:301082
Hydrops Fetalis, Nonimmune
Anemia OMIM:236750
Fetal Parvovirus Syndrome
Thrombocytopenia, Ascites, Anemia ORPHA:295
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Chronic oral candidi... OMIM:615387
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration... OMIM:251880
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612925
Crigler-Najjar Syndrome Type 1
Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Prolonged n... ORPHA:79234
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Hypouricemia, Increased circulat... OMIM:613179
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Enlarged mesenteric lymph node, ... OMIM:209950
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Intrah... OMIM:613812
Bone Marrow Failure Syndrome 4
Recurrent respiratory infections, Decreased circulating antibody level, Anemia, Leukopenia, Bone ... OMIM:618116
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni... OMIM:278000
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice ORPHA:79235
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Recurrent viral infections, Splenomegaly, T... OMIM:603554
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Invasive parasitic i... ORPHA:400
Immunodeficiency 23
Hemolytic anemia, Recurrent respiratory infections, Eosinophilia, Recurrent staphylococcal infect... OMIM:615816
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Anemia, Neutropenia OMIM:614082
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Hemolytic anemia OMIM:612300
Aceruloplasminemia
Decreased serum iron, Aceruloplasminemia, Increased circulating ferritin concentration, Anemia OMIM:604290
Immunodeficiency 76
Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphop... OMIM:619164
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Anemia OMIM:618313
Hereditary Cryohydrocytosis With Reduced Stomatin
Spontaneous hemolytic crises, Conjugated hyperbilirubinemia, Jaundice, Hepatosplenomegaly, Recurr... ORPHA:168577
Immunodeficiency, Common Variable, 1
Hepatomegaly, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia in presenc... OMIM:607594
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... ORPHA:507
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... ORPHA:447
Immunodeficiency, Common Variable, 7
Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near... OMIM:614699
Immunodeficiency 87 And Autoimmunity
Elevated circulating C-reactive protein concentration, Recurrent viral infections, Sepsis, Elevat... OMIM:619573
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent... OMIM:601847
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... OMIM:619802
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic... OMIM:259720
Hypercholanemia, Familial, 2
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia, Prolonged neonatal jaun... OMIM:619256
Transaldolase Deficiency
Hepatosplenomegaly, Anemia, Abnormal circulating glutamine concentration, Increased serum bile ac... ORPHA:101028
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent herpes, Abnormal CD4:CD8 ratio, Recurrent viral infections, Recurrent candida infection... ORPHA:572
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Severe varicella zoster infection, Rec... OMIM:615122
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos... ORPHA:331206
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Recurrent pneumonia, Decreased c... OMIM:616576
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... OMIM:619463
Protoporphyria, Erythropoietic, X-Linked
Elevated hepatic transaminase, Iron deficiency anemia, Cholelithiasis, Increased erythrocyte prot... OMIM:300752
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Lymphadenopath... OMIM:301078
Diamond-Blackfan Anemia 5
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Leukopenia OMIM:612528
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
Atransferrinemia
Abnormality of the liver, Atransferrinemia, Hypochromic anemia OMIM:209300
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... ORPHA:158061
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... OMIM:619658
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Elevated circulating C-reactive protein concentration, Reduced natural killer cell ... OMIM:616050
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Abnormality of the tonsi... ORPHA:229717
C1Q Deficiency 2
Elevated circulating C-reactive protein concentration, Pneumocystis carinii pneumonia, Sepsis, Re... OMIM:620321
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Recurrent upper respiratory tract infections, Anemia, Hepatomegaly OMIM:620296
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Hyperuricemia, Anemia ORPHA:371
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Recurrent infections, Hyperuricemia, Neutropenia, ... OMIM:617056
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Sepsis, Hyperammonemia, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia ORPHA:289916
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Recurrent urin... OMIM:619487
Vitamin B12-Responsive Methylmalonic Acidemia
Hyperammonemia, Anemia, Hepatomegaly ORPHA:28
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Anemia OMIM:610090
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st... OMIM:605814
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema... ORPHA:2330
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Leukopenia, T lymphocytopenia, Increa... ORPHA:443811
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Hemophagocytic Syndrome Associated With An Infection
Opportunistic bacterial infection, Neutropenia, Hepatomegaly, Severe cytomegalovirus infection, C... ORPHA:158048
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,... OMIM:607765
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Recurrent bacterial skin infections, Anisocytosis, Splenomegal... ORPHA:79277
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality OMIM:237500
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin ORPHA:90036
Immunodeficiency 42
Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Chro... OMIM:616622
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Normochromic anem... OMIM:615512
Edinburgh Malformation Syndrome
Jaundice, Neonatal hyperbilirubinemia OMIM:129850
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Jaundice, Lymphadenopathy, Anemia, Asc... ORPHA:858
Graft Versus Host Disease
Elevated hepatic transaminase, Jaundice, Lymphadenopathy, Hepatosplenomegaly, Chronic hepatitis, ... ORPHA:39812
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Re... OMIM:150550
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C... ORPHA:54251
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent viral infections, Recurrent upper respiratory tract infect... OMIM:614868
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly OMIM:615085
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis OMIM:206200
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Hypoalbuminemia, Hepati... OMIM:277900
Pearson Syndrome
Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatome... ORPHA:699
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia, Jaundice OMIM:237450
Jaundice, Familial Obstructive, Of Infancy
Jaundice, Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia, Jaundice OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Jaundice, Neonatal unconjugated hyperbilirubinemia OMIM:237900
Crigler-Najjar Syndrome, Type Ii
Jaundice, Unconjugated hyperbilirubinemia OMIM:606785
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Hypercalcemia, Anemia, Ascites, Thrombocytopenia ORPHA:2123
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... OMIM:614480
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... ORPHA:124
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... ORPHA:3261
Immunodeficiency, Common Variable, 2
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia... OMIM:240500
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Ascites, Increased total bilirubin ORPHA:890
Familial Benign Copper Deficiency
Decreased circulating copper concentration, Anemia ORPHA:1551
Castleman Disease
Generalized lymphadenopathy, Abdominal mass, Elevated circulating C-reactive protein concentratio... ORPHA:160
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Abetalipoproteinemia
Elevated hepatic transaminase, Reticulocytosis, Decreased HDL cholesterol concentration, Hepatome... ORPHA:14
Crigler-Najjar Syndrome, Type I
Jaundice, Unconjugated hyperbilirubinemia OMIM:218800
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thromb... ORPHA:911
Schnitzler Syndrome
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating IgM level, Anemia ORPHA:37748
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Hepatomegaly, Portal ... ORPHA:79124
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Macrocytic anemia, Elevated hepatic transaminase, Hepatic st... OMIM:615438
Gilbert Syndrome
Elevated hepatic transaminase, Jaundice, Hepatic failure, Unconjugated hyperbilirubinemia OMIM:143500
Immunodeficiency 10
Autoimmune hemolytic anemia, Recurrent infections, Lymphadenopathy, Recurrent bacterial infection... OMIM:612783
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Autoimmune thrombocy... ORPHA:100026
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased circulating lactate dehydroge... ORPHA:824
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:616435
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Abn... ORPHA:101330
Lesch-Nyhan Syndrome
Hyperuricemia, Anemia ORPHA:510
Intermediate Osteopetrosis
Chronic infection, Hepatosplenomegaly, Anemia, Elevated circulating alkaline phosphatase concentr... ORPHA:210110
Fanconi Anemia, Complementation Group V
Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari... OMIM:617243
Specific Granule Deficiency 2
Absent neutrophil specific granules, Recurrent pneumonia, Sepsis, Anemia, Recurrent bacterial inf... OMIM:617475
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia OMIM:118830
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Anemia ORPHA:3204
Caroli Disease
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Hepatic fibrosis, Elevated gamma-gluta... ORPHA:53035
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... OMIM:616828
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... OMIM:618398
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Decreased beta-galactosidase activity, Hypergalactosemia OMIM:230350
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hypertriglyceridemia, Hepatomegaly OMIM:619175
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Ascites, Elevated circulating alkaline phosphatase concentration, Polycystic liver disease, Incre... OMIM:174050
Copper Deficiency, Familial Benign
Decreased circulating copper concentration, Anemia OMIM:121270
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocyt... OMIM:616100
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Splenomegaly, Hyperammonemia, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia ORPHA:79312
Senior-Boichis Syndrome
Elevated hepatic transaminase, Portal hypertension, Malformation of the hepatic ductal plate, Con... ORPHA:84081
Cinca Syndrome
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hepatosplenome... OMIM:607115
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Conjugated hyperbilirubinemia, Hepatic melan... OMIM:208085
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl... OMIM:211600
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Lymphadenopathy,... OMIM:617591
Niemann-Pick Disease, Type A
Hepatomegaly, Recurrent respiratory infections, Elevated circulating aspartate aminotransferase c... OMIM:257200
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity OMIM:616871
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Ascites, Hypoalbuminemia, Anemia OMIM:603278
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Decreased circulating antibody level, Recurrent infections, Iron deficiency anemia,... OMIM:226300
Immunodeficiency 47
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... OMIM:300972
Felty Syndrome
Hepatomegaly, Recurrent urinary tract infections, Recurrent respiratory infections, Splenomegaly,... ORPHA:47612
Pernicious Anemia
Megaloblastic anemia OMIM:170900
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Abnormality of the tonsils, Abnormality of the lymphatic s... ORPHA:47
Sandhoff Disease
Splenomegaly, Recurrent respiratory infections, Hepatomegaly ORPHA:796
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Splenomegaly, Ascites, Anemia ORPHA:1046
Hellp Syndrome
Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat... ORPHA:244242
Mcleod Syndrome
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... OMIM:300842
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Anemia, Hepatomegaly OMIM:618107
Prolidase Deficiency
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Recurr... OMIM:170100
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... OMIM:607271
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Hyperalaninemia OMIM:619046
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Severe varicella zoster infection, Recurrent tonsillitis, Lymphadenop... ORPHA:397596
Aicardi-Goutieres Syndrome 4
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thro... OMIM:610333
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Anemia ORPHA:2668
Myasthenia Gravis
Hemolytic anemia, Abnormal thymus morphology, Hepatitis, Pure red cell aplasia ORPHA:589
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, ... ORPHA:567983
Tempi Syndrome
Increased circulating IgG level, Ascites, Increased hematocrit, Polycythemia ORPHA:284227
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Anemia OMIM:614514
Lathosterolosis
Elevated hepatic transaminase, Bilobate gallbladder, Increased mean platelet volume, Acanthocytos... OMIM:607330
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Hepatic failure, Ascites, Anemia ORPHA:75233
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly OMIM:607685
Dohle Bodies And Leukemia
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia OMIM:223350
Intermediate Generalized Junctional Epidermolysis Bullosa
Anemia ORPHA:79402
Immunodeficiency 25
Autoimmune hemolytic anemia, Recurrent herpes, Eosinophilia, Increased circulating IgA level, Inc... OMIM:610163
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... ORPHA:309854
Mitochondrial Myopathy And Sideroblastic Anemia
Anemia ORPHA:2598
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:263400
Shigellosis
Hyponatremia, Leukocytosis, Peritonitis, Abnormal blood ion concentration, Cholestasis, Sepsis, M... ORPHA:810
Mixed Connective Tissue Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Leuko... ORPHA:809
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... ORPHA:436159
Rhabdoid Tumor
Hypercalcemia, Lymphadenopathy, Anemia, Neoplasm of the liver, Thrombocytopenia ORPHA:69077
Hemochromatosis, Type 2A
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Increased serum iron, C... OMIM:602390
Hijazi-Reis Syndrome
Recurrent respiratory infections, Recurrent ear infections, Hyperbilirubinemia OMIM:301094
Bile Acid Conjugation Defect 1
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:619232
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Acute hepatitis, Splenomegaly, Fulminant hepatiti... ORPHA:2137
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces... OMIM:233710
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Splenomegaly, Decreased beta-glucocerebrosidase level, Thrombocytopenia OMIM:231000
Orthostatic Hypotension 2
Anemia OMIM:618182
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619662
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff... OMIM:612714
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Hyperammonemia, Anemia, Leukopenia, Pancreatitis, Thrombocytopenia ORPHA:27
Aggressive Systemic Mastocytosis
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomeg... ORPHA:98850
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Recurrent respiratory infections, Decreased circulating antibody level OMIM:618042
Isolated Polycystic Liver Disease
Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Increased total bilirubin ORPHA:2924
Lipoyltransferase 1 Deficiency
Elevated hepatic transaminase, Hyperglutaminemia, Hyperprolinemia, Decreased liver function, Incr... OMIM:616299
Atelis Syndrome 1
Leukopenia, Thrombocytopenia, Anemia, Recurrent infections OMIM:620184
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Persistent CMV viremia, Splenomegaly, Recurrent upper respirator... OMIM:616005
Hepatoerythropoietic Porphyria
Hemolytic anemia, Abnormal circulating enzyme concentration or activity, Recurrent bacterial skin... ORPHA:95159
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Hepatomegaly, Recurrent urinary tract infections, Recurrent resp... OMIM:620210
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Anemia ORPHA:2325
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces... OMIM:233690
Aceruloplasminemia
Refractory anemia, Abnormal circulating enzyme concentration or activity, Decreased circulating c... ORPHA:48818
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Reduced natural killer cell ac... ORPHA:540
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Hepatomegaly, Splenomegaly, Increase... OMIM:615846
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Hyperuricemia, Anemia OMIM:613092
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Hypercalcemia, Enlarged kidney, Increased blood urea nitrogen ORPHA:251004
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Prolonged neo... OMIM:231100
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... OMIM:214950
Fumarase Deficiency
Decreased fumarate hydratase activity, Intrahepatic cholestasis, Hyperbilirubinemia, Hepatic fail... OMIM:606812
Osteopetrosis, Autosomal Recessive 9
Elevated circulating alkaline phosphatase concentration, Elevated circulating creatinine concentr... OMIM:620366
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating uroporphyrin concent... OMIM:263700
Senior-Loken Syndrome 4
Anemia OMIM:606996
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia OMIM:616738
Amed Syndrome, Digenic
Acute myeloid leukemia, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:619151
Mevalonic Aciduria
Elevated hepatic transaminase, Normocytic hypoplastic anemia, Elevated circulating creatine kinas... OMIM:610377
Autosomal Erythropoietic Protoporphyria
Microcytic anemia, Abnormal circulating porphyrin concentration, Decreased liver function, Cirrho... ORPHA:79278
Transcobalamin Ii Deficiency
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased... OMIM:275350
Hjv Or Hamp-Related Hemochromatosis
Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin... ORPHA:79230
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... ORPHA:905
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy, Leukopenia, Ascites, Microangiopathic hemolytic anemia, Increased circulating la... ORPHA:93552
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Decreased methionine synthase activity, Megal... OMIM:277380
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Recurrent infe... OMIM:260400
Congenital Enterovirus Infection