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Gene: Klf1 MGI:1342771

Registered for phenotyping at IMPC

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

Gene Summary

Name:

Kruppel-like transcription factor 1 (erythroid)

Synonyms:

Eklf, Nan

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 Klf1 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.

Human diseases associated with Klf1 (3 diseases)
Human diseases predicted to be associated with Klf1 (713 diseases)

The table below shows human diseases associated to Klf1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia	ORPHA:46532
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi...	OMIM:613673
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380

The table below shows human diseases predicted to be associated to Klf1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
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
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery...	OMIM:206100
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increas...	OMIM:616860
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia	ORPHA:46532
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co...	ORPHA:766
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Hemochromatosis, Type 5	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati...	OMIM:615517
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple...	OMIM:615234
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Anemia, Sideroblastic, 4	Abnormal erythrocyte morphology, Sideroblastic anemia	OMIM:182170
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
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
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati...	OMIM:205950
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis	OMIM:206200
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Elevated hepatic transaminase, Increased circulating ferritin concentration, Reticulocytopenia, A...	ORPHA:300298
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,...	OMIM:300908
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology	OMIM:300622
Iron Overload, Susceptibility To	Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat...	OMIM:620121
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia	ORPHA:517
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid	OMIM:206400
Elliptocytosis 1	Hemolytic anemia, Splenomegaly, Jaundice, Elliptocytosis, Pallor	OMIM:611804
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, S...	OMIM:224120
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi...	OMIM:613673
Congenital Dyserythropoietic Anemia Type Iii	Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Increased serum iro...	ORPHA:98870
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia	OMIM:140700
Diamond-Blackfan Anemia 13	Normocytic anemia	OMIM:615909
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Beta-Thalassemia Intermedia	Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
Breath-Holding Spells	Iron deficiency anemia, Pallor	OMIM:607578
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy	OMIM:312500
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Cyanosis, Transient Neonatal	Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Genetic Hyperferritinemia Without Iron Overload	Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe...	ORPHA:254704
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Congenital thrombocytopenia, Pet...	OMIM:300367
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
X-Linked Sideroblastic Anemia	Splenomegaly, Pallor, Anemia	ORPHA:75563
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Petechiae, Portal hypertension, Thrombo...	ORPHA:824
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ...	ORPHA:75564
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Renal Fanconi syndrome, Cirrhosis, Ele...	ORPHA:53693
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili...	OMIM:237800
Chromosome 5Q Deletion Syndrome	Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia	OMIM:153550
Anemia, Sideroblastic, 1	Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro...	OMIM:300751
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Poikilocytosis, Anemia	OMIM:616959
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia	Anemia	ORPHA:2802
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Skin ulcer, Anemia...	ORPHA:848
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Abnormal hemoglobin, Splenomegaly, Pallor, Anemia	ORPHA:163596
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Orotic Aciduria	Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp...	OMIM:258900
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Nephronophthisis	Anemia	ORPHA:655
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Isobutyryl-Coa Dehydrogenase Deficiency	Anemia	OMIM:611283
Elliptocytosis 3	Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr...	OMIM:617948
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Pyropoikilocytosis, Hereditary	Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis	OMIM:266140
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Combined Oxidative Phosphorylation Deficiency 14	Copper accumulation in liver, Anemia, Aminoaciduria, Elevated hepatic iron concentration, Increas...	OMIM:614946
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa...	ORPHA:71275
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Hep...	ORPHA:101330
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra...	ORPHA:139507
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Trimethylaminuria	Splenomegaly, Neutropenia, Anemia, Trimethylaminuria	OMIM:602079
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Increased circulating ferritin concent...	OMIM:613313
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Anemia, Hepatosplenomegaly	OMIM:273680
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration	OMIM:619398
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Skin ulcer, Lymphadenop...	ORPHA:507
Congenital Atransferrinemia	Abnormality of the pancreas, Anemia	ORPHA:1195
Glutathione Peroxidase Deficiency	Heinz bodies, Compensated hemolytic anemia	OMIM:614164
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Elliptocytosis, Anemia of inadequate production	OMIM:166910
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Spastic Paraplegia And Evans Syndrome	Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia	OMIM:601608
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Neutropenia, Enlarg...	OMIM:615285
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Petechiae, Increased mean platelet volume, Impaired ristocetin-induced platelet...	OMIM:153670
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice	OMIM:179700
Cold Agglutinin Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Pallor	ORPHA:56425
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane	Nonspherocytic hemolytic anemia	OMIM:206300
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
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:612631
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno...	ORPHA:822
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Anisocytosis, Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic a...	OMIM:604273
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria	OMIM:619813
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia	OMIM:608898
Aceruloplasminemia	Refractory anemia, Decreased circulating ceruloplasmin concentration, Decreased circulating coppe...	ORPHA:48818
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Reticulocytosis	OMIM:130600
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Immunodeficiency 69	Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl...	OMIM:618963
Diamond-Blackfan Anemia 16	Anemia	OMIM:617408
Megaloblastic Anemia, Folate-Responsive	Episodic hemolytic anemia, Schistocytosis, Folate-responsive megaloblastic anemia, Hypersegmentat...	OMIM:601775
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Pallor	OMIM:611590
Rh-Null, Regulator Type	Hemolytic anemia, Jaundice, Stomatocytosis	OMIM:268150
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration	Acanthocytosis	OMIM:607236
Familial Pseudohyperkalemia	Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume	ORPHA:90044
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Acute Peripheral Arterial Occlusion	Leukocytosis, Pallor	ORPHA:90064
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Hyperlysinemia, Type I	Hyperlysinemia, Hyperlysinuria, Anemia	OMIM:238700
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Ichthyosis, Congenital, Autosomal Recessive 5	White scaling skin, Acanthocytosis	OMIM:604777
Diamond-Blackfan Anemia 9	Anemia	OMIM:613308
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Sideroblastic anemia, Pallor, Hepatomegaly	OMIM:613561
Acute Erythroid Leukemia	Anemia, Erythroid hypoplasia, Pancytopenia, Leukopenia	ORPHA:318
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia	OMIM:118830
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Pa...	OMIM:613839
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascites, Anemia	ORPHA:100025
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni...	OMIM:603552
Letterer-Siwe Disease	Jaundice, Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia	OMIM:246400
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph...	ORPHA:100024
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Atransferrinemia	Abnormality of the liver, Hypochromic anemia	OMIM:209300
Evans Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Jaundice, Neutropenia in presence of an...	ORPHA:1959
Thiamine-Responsive Megaloblastic Anemia Syndrome	Pallor, Thrombocytopenia, Megaloblastic anemia	ORPHA:49827
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Petechiae, Reduced platelet ...	OMIM:314050
Glutathione Synthetase Deficiency	Hemolytic anemia	ORPHA:32
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Abetalipoproteinemia	Acanthocytosis	OMIM:200100
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly...	OMIM:210250
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel...	OMIM:607616
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Pallor	ORPHA:90037
Red Cell Permeability Defect	Elliptocytosis	OMIM:179650
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic anemia, Macrocytic dyserythropoietic anemia	OMIM:619789
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H...	OMIM:235700
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, C...	OMIM:618278
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly, Hypertriglyceridemia	OMIM:619175
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Anemia	OMIM:618313
Harderoporphyria	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Increased urine harderoporphyrin level, Increase...	OMIM:618892
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Conjuga...	OMIM:620010
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau...	OMIM:603903
Beta-Thalassemia Major	Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ...	ORPHA:231214
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:230450
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc...	ORPHA:882
3-Methylglutaconic Aciduria, Type Viia	Anisopoikilocytosis, Anemia, Neutropenia	OMIM:619835
Hydrops Fetalis, Nonimmune	Anemia	OMIM:236750
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa...	ORPHA:3226
Bleeding Disorder, Platelet-Type, 16	Petechiae, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platel...	OMIM:187800
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple...	ORPHA:232
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis...	OMIM:614480
Malaria	Elevated circulating C-reactive protein concentration, Thrombocytopenia, Hyperbilirubinemia, Acut...	ORPHA:673
Glutamate-Cysteine Ligase Deficiency	Hemolytic anemia, Reticulocytosis, Jaundice, Hepatosplenomegaly, Aminoaciduria	ORPHA:33574
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	OMIM:610539
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg...	OMIM:613101
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Anemia	ORPHA:1802
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Auto...	ORPHA:331206
Hemochromatosis, Type 3	Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin...	OMIM:604250
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia...	OMIM:614470
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Pallor, T...	ORPHA:90045
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Anemia	OMIM:615715
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut...	OMIM:618849
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Tempi Syndrome	Facial erythema, Increased circulating IgG level, Increased hematocrit, Ascites, Polycythemia	ORPHA:284227
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Formiminoglutamic Aciduria	Anemia, Abnormal concentration of acylcarnitine in the urine, Abnormal circulating histidine conc...	ORPHA:51208
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Hypergalactosemia	OMIM:230350
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis	OMIM:612126
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Myelofibrosis	Splenomegaly, Pallor, Myeloproliferative disorder, Purpura	OMIM:254450
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619868
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Pallor, Hypochromic anemia, Erythro...	OMIM:600462
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukocytosis, Abnormal me...	ORPHA:86839
Nephrotic Syndrome, Type 7	Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom...	OMIM:615008
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic leukemia, Pallor	ORPHA:90033
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Hemochromatosis, Type 4	Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Cirr...	OMIM:606069
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Increased muscle glycogen content, Hyperuricemia, Anemia	ORPHA:371
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu...	OMIM:613092
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ...	OMIM:616084
Focal Segmental Glomerulosclerosis 1	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:603278
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia, Purpura	OMIM:235400
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly	OMIM:615010
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Splenomegaly, Anemia, Petechiae, Purpura	OMIM:620296
Hypobetalipoproteinemia, Familial, 1	Acanthocytosis	OMIM:615558
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Renal insufficiency, Proteinuria, Hypercalcemia, Anemia	ORPHA:2668
Developmental And Epileptic Encephalopathy 50	Schistocytosis, Anisopoikilocytosis, Anemia, Acanthocytosis	OMIM:616457
Pernicious Anemia	Megaloblastic anemia	OMIM:170900
Choreoacanthocytosis	Acanthocytosis	OMIM:200150
Plummer-Vinson Syndrome	Iron deficiency anemia, Pallor, Hypochromic microcytic anemia	ORPHA:54028
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Renal insufficiency, Hypercalcemia, Thrombocytopenia, Ascites, Anemia	ORPHA:2123
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Mcleod Syndrome	Hepatomegaly, Splenomegaly, Acanthocytosis	OMIM:300842
Immunodeficiency 104	Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy	OMIM:608971
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Jaundice, Schistocytosis, Microangiopathic hemolytic anemia, Prolonged neonatal ...	OMIM:274150
Lesch-Nyhan Syndrome	Hematuria, Renal insufficiency, Hyperuricemia, Anemia	ORPHA:510
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E...	OMIM:616828
Protoporphyria, Erythropoietic, X-Linked	Elevated hepatic transaminase, Iron deficiency anemia, Cholelithiasis	OMIM:300752
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:615085
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Gracile Syndrome	Increased serum pyruvate, Increased circulating ferritin concentration, Cholestasis, Aminoaciduri...	OMIM:603358
Galactose Epimerase Deficiency	Splenomegaly, Hepatomegaly, Aminoaciduria, Jaundice	ORPHA:79238
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Leukemia, Anemia, Neutropenia	OMIM:614082
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Lymphadenopathy, Abnormal proport...	OMIM:212050
Fetal Parvovirus Syndrome	Thrombocytopenia, Anemia	ORPHA:295
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly, Aminoaciduria	ORPHA:417
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ...	OMIM:271500
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia, Pallor	ORPHA:99931
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Splenomegaly, Abnormality of the ureter, Ascites, Anemia	ORPHA:1046
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Vitamin B12-Responsive Methylmalonic Acidemia	Anemia, Hepatomegaly, Renal insufficiency, Hyperammonemia	ORPHA:28
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Petechiae, Splenomegaly, Leukocytosis, Hepatosplenome...	OMIM:612840
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria, ...	OMIM:245900
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Hypocalcemia, Lymphocytosis, Elevat...	OMIM:619991
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Pallor, Anemia	OMIM:246450
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Petechiae, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Copper Deficiency, Familial Benign	Decreased circulating copper concentration, Anemia	OMIM:121270
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Pallor	ORPHA:90036
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder	OMIM:607685
Transaldolase Deficiency	Thrombocytopenia, Hepatosplenomegaly, Abnormal circulating glutamine concentration, Cirrhosis, In...	ORPHA:101028
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis	OMIM:608885
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia	ORPHA:172
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ...	OMIM:613011
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ...	OMIM:209950
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Anisocytosis, Abnormal circulating porphyrin concentration, Sp...	ORPHA:79277
Erythrocytosis, Familial, 2	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:263400
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy	OMIM:105200
Dohle Bodies And Leukemia	Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia	OMIM:223350
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hypertriglyceridemia, Elevat...	ORPHA:158057
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:618398
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:601859
Combined Saposin Deficiency	Splenomegaly, Hepatomegaly, Abnormal glycosphingolipid metabolism	OMIM:611721
Diamond-Blackfan Anemia 12	Macrocytic anemia, Reticulocytopenia, Normochromic anemia	OMIM:615550
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Focal segmenta...	OMIM:617056
Hemochromatosis, Neonatal	Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Prolonged neo...	OMIM:231100
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased muscle glycogen content, Hyperuricemia, Increased hepatic g...	OMIM:261750
Orthostatic Hypotension 2	Anemia	OMIM:618182
Chylomicron Retention Disease	Increased hepatocellular lipid droplets, Hepatic steatosis, Acanthocytosis	ORPHA:71
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni...	OMIM:278000
Familial Benign Copper Deficiency	Decreased circulating copper concentration, Anemia	ORPHA:1551
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli...	OMIM:214900
Senior-Loken Syndrome 4	Anemia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis	OMIM:606996
Hemolytic Anemia, Congenital, X-Linked	Dark urine, Hemolytic anemia, Jaundice	OMIM:301015
Fanconi Anemia, Complementation Group V	Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari...	OMIM:617243
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po...	ORPHA:64743
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating IgM level, Anemia	ORPHA:37748
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612924
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs...	OMIM:226990
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612926
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Anemic pallor, Anemia	ORPHA:329971
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Hepatomegaly, Portal hypertension, Elevated hepatic transaminase	OMIM:617068
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia	OMIM:612527
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Thrombocytopenia, Splenomegaly, Hyperammonemia, Neutropenia, P...	ORPHA:79312
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Macrocytic anemia, Elevated hepatic transaminase, Hepatic st...	OMIM:615438
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Anemia	ORPHA:3204
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Immunodeficiency 48	Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly	OMIM:269840
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Anemia, Hepatomegaly	OMIM:618107
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste...	OMIM:612526
Aceruloplasminemia	Anemia, Increased circulating ferritin concentration, Aceruloplasminemia, Decreased serum iron	OMIM:604290
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612925
Hemochromatosis, Type 2A	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Increased serum iron, C...	OMIM:602390
Babesiosis	Hemolytic anemia, Renal insufficiency, Hepatomegaly, Splenomegaly, Jaundice, Leukopenia, Hepatic ...	ORPHA:108
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Hypermanganesemia With Dystonia 1	Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa...	OMIM:613280
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Increased circulating ferritin...	OMIM:300635
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating...	OMIM:620282
Coach Syndrome 3	Renal insufficiency, Stage 5 chronic kidney disease, Portal fibrosis, Nephronophthisis, Anemia	OMIM:619113
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Coproporphyria, Hereditary	Hepatomegaly, Splenomegaly, Jaundice, Increased urinary porphobilinogen, Elevated urinary delta-a...	OMIM:121300
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadeno...	ORPHA:858
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati...	OMIM:616452
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration...	ORPHA:158061
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Amme Complex	Elliptocytosis	OMIM:300194
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:616435
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C...	ORPHA:79301
Rhabdoid Tumor	Hypercalcemia, Thrombocytopenia, Lymphadenopathy, Hematuria, Neoplasm of the liver, Anemia	ORPHA:69077
Sepsis In Premature Infants	Hepatomegaly, Petechiae, Splenomegaly, Leukocytosis, Jaundice, Anemia, Pallor, Neutropenia, Throm...	ORPHA:90051
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Thrombocytopenia, Erythema...	OMIM:557000
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa...	ORPHA:75234
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thro...	OMIM:610333
Ornithine Transcarbamylase Deficiency	Splenomegaly, Aminoaciduria, Hepatic failure, Hyperammonemia	ORPHA:664
Idiopathic Copper-Associated Cirrhosis	Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Increased urinar...	ORPHA:209919
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase conc...	OMIM:614034
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Petechiae, Eosinophilia, Chronic noninfectious lymphad...	OMIM:603909
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Immunodeficiency 46	Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Reduced serum a...	OMIM:613490
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Pyoderma gangrenosum, Lympha...	OMIM:150550
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Renal insufficiency, Thrombocytopenia, Hyperammonemia, Renal tubular dysfunction, N...	ORPHA:289916
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Elevated circulating C-reactive protein concentration, Increased circulating ferrit...	OMIM:616050
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Purpura, Abnormality of neutrophils, Splenomegaly, Lymphadenopat...	ORPHA:33226
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Premature skin wrinkling, Poikilocytosis, Acanthocytosis	OMIM:618947
Optic Atrophy 1	Pallor	OMIM:165500
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Sea-Blue Histiocytosis	Hepatomegaly, Petechiae, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Throm...	ORPHA:158029
Hereditary Cryohydrocytosis With Reduced Stomatin	Jaundice, Spontaneous hemolytic crises, Stomatocytosis, Hepatosplenomegaly	ORPHA:168577
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Anemia	OMIM:614514
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Renal insufficiency, Macrocytic anemia, Thrombocytopenia, Hyperammonemia, Leukopeni...	ORPHA:27
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal...	ORPHA:1414
8P11.2 Deletion Syndrome	Splenomegaly, Hemolytic anemia, Spherocytosis	ORPHA:251066
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Hepatic failure, Ascites, Anemia	ORPHA:75233
Short Stature With Microcephaly And Distinctive Facies	Anisopoikilocytosis, Anemia	OMIM:615789
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio...	OMIM:308240
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Dermatitis, Atopic	Dry skin, Pallor, Facial erythema	OMIM:603165
Diamond-Blackfan Anemia 5	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Leukopenia	OMIM:612528
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff...	OMIM:612714
Hjv Or Hamp-Related Hemochromatosis	Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin...	ORPHA:79230
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Neutrophilia, Liver abscess, Elevated circulating C-reactive prote...	ORPHA:54251
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, H...	OMIM:306000
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Increased circulating I...	OMIM:618495
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Mediastinal lymphadeno...	OMIM:300853
Oslam Syndrome	Anemia	OMIM:165660
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cholelithias...	OMIM:611881
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Thrombocytopenia, Chronic ...	OMIM:613845
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Ecchymosis, Th...	ORPHA:88
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po...	OMIM:602347
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hepatomegaly, Microvesicular hepatic steatosis, Cirrhosis, Elevated hepatic iron concentration, V...	OMIM:300868
Maternal Uniparental Disomy Of Chromosome 4	Abnormal erythrocyte morphology, Acanthocytosis	ORPHA:96180
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Gaucher Disease, Type Iii	Splenomegaly, Hepatomegaly, Pancytopenia, Thrombocytopenia	OMIM:231000
Corticosteroid-Binding Globulin Deficiency	Hypokalemia, Anemia, Decreased urinary potassium	OMIM:611489
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa...	OMIM:267700
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Pallor	ORPHA:2786
American Trypanosomiasis	Splenomegaly, Pallor, Lymphadenopathy, Hepatomegaly	ORPHA:3386
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Anemia, Congenital Dyserythropoietic, Type Iiia	Hemosiderinuria, Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemi...	OMIM:105600
Cinca Syndrome	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Lymphadenopath...	OMIM:607115
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Elliptocytosis	ORPHA:86818
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Lymphadenopathy, Hemophagocyt...	ORPHA:79477
Fanconi Anemia, Complementation Group E	Pancytopenia, Anemic pallor, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:600901
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Thrombocytopenia, Splenomegal...	ORPHA:905
Pseudo-Torch Syndrome 3	Proteinuria, Cardiomegaly, Increased circulating ferritin concentration, Lymphadenitis, Leukocyto...	OMIM:618886
Lathosterolosis	Hepatomegaly, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platelet morphology, Thromb...	ORPHA:46059
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Reticulocytosis, Leukocytosis, Schistocytosis, Peritonitis, Microangiopathic hemolytic anemia, Pa...	ORPHA:90038
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis	OMIM:616719
Hereditary Orotic Aciduria	Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,...	ORPHA:30
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Hyperalaninemia	OMIM:619046
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Lathosterolosis	Bilobate gallbladder, Increased mean platelet volume, Acanthocytosis, Intrahepatic cholestasis, S...	OMIM:607330
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia	OMIM:616738
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Thr...	ORPHA:398124
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy	OMIM:611762
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
Fanconi Anemia, Complementation Group A	Pancytopenia, Anemic pallor, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:227650
Bone Marrow Failure Syndrome 4	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:618116
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Intermediate Osteopetrosis	Thrombocytopenia, Hypocalcemia, Anemia, Hepatosplenomegaly	ORPHA:210110
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Pancytopenia, Aplastic anemia, Mediastinal lymphadenopathy, Bone marrow hypocellularity, Cirrhosi...	OMIM:614742
Abcd Syndrome	Neonatal death, Polycythemia	OMIM:600501
Fish-Eye Disease	Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy, Hepatomegaly	ORPHA:79292
Immunodeficiency 102	Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Neutropenia...	OMIM:301082
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hyperphosphaturia, Polyuria, Hypercalcemia, Splenomegaly, Hypercalciuri...	OMIM:239200
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Anemia, Cardiomegaly	OMIM:620135
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Hereditary Coproporphyria	Hyponatremia, Dark urine, Abnormal circulating porphyrin concentration, Porphyrinuria, Increased ...	ORPHA:79273
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif...	OMIM:613027
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H...	OMIM:615122
Osteopetrosis, Autosomal Recessive 9	Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperkalemia, Anemia	OMIM:620366
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Hematuria, Increased mean c...	OMIM:617021
Combined Oxidative Phosphorylation Deficiency 41	Elevated circulating creatine kinase concentration, Anemia, Cardiomegaly	OMIM:618838
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Elevated hepatic transaminase, In...	OMIM:603553
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos...	ORPHA:98848
3-Hydroxy-3-Methylglutaric Aciduria	Hepatomegaly, Acute pancreatitis, Leukocytosis, Jaundice, Lipid accumulation in hepatocytes, Leuk...	ORPHA:20
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,...	OMIM:607765
Maturity-Onset Diabetes Of The Young, Type 14	Elevated hemoglobin A1c	OMIM:616511
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:266120
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Hy...	OMIM:235555
Optic Atrophy 7 With Or Without Auditory Neuropathy	Pallor	OMIM:612989
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Splenomegaly, Intermittent...	OMIM:601847
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Anemia,...	OMIM:606966
Fanconi Anemia, Complementation Group C	Pancytopenia, Anemic pallor, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia,...	OMIM:227645
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pancreatic islet-cell hyperplasia, Pallor	ORPHA:276608
Hydatidiform Mole	Anemia	ORPHA:99927
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration...	OMIM:251880
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Glomerulonephritis, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Hepatitis, Lymph...	OMIM:304790
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Hepatomegaly	ORPHA:2204
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Erythema, Lymphadenopathy	OMIM:619183
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F, Increased size of nasopharyngeal adenoids	OMIM:619769
Niemann-Pick Disease, Type A	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel...	OMIM:257200
Glucagonoma	Neoplasm of the pancreas, Hepatomegaly, Acanthocytosis, Necrolytic migratory erythema, Intrahepat...	ORPHA:97280
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu...	ORPHA:381
Congenital Rubella Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Anemia, Thrombocytopenia	ORPHA:290
Aggressive Systemic Mastocytosis	Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomeg...	ORPHA:98850
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Lymphadenitis, Splenomegaly, Recurrent tonsillitis, Lymphad...	OMIM:618935
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Diffuse pancreatic islet hyperplasia, Pallor, Focal pancreatic islet hyperplasia, Hepatomegaly	ORPHA:276575
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest...	OMIM:613812
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Nephrotic syndrome, Abno...	ORPHA:39041
Fanconi Anemia, Complementation Group I	Pallor, Bone marrow hypocellularity, Neutropenia	OMIM:609053
Hyperinsulinism Due To Ucp2 Deficiency	Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly	ORPHA:276556
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Increased circulating ferritin concent...	OMIM:235200
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato...	OMIM:308230
Stormorken Syndrome	Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Thrombocytopen...	OMIM:185070
Amed Syndrome, Digenic	Acute myeloid leukemia, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:619151
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Thrombocytopenia, Micronodular cirrhosis, Splenomegaly, Hepatosplenom...	OMIM:606003
Relapsing Fever	Elevated hepatic transaminase, Neutrophilia, Elevated circulating C-reactive protein concentratio...	ORPHA:91547
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin...	ORPHA:540
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:230800
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Thrombocytopenia, Splenomegaly, Hematuria...	ORPHA:77259
Adenohypophysitis	Normochromic anemia, Pallor	ORPHA:95512
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly	ORPHA:276580
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Thrombocytopenia, Methylmalonic ac...	OMIM:251110
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Hepatomegaly, Autoimmune thrombocytopenia, Splenomegaly...	OMIM:616100
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Prolidase Deficiency	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperimidodipeptidur...	OMIM:170100
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Elevated hemoglobin A1c, Exocrine pancreatic insufficiency	OMIM:609812
Beta-Ketothiolase Deficiency	Thrombocytosis, Leukocytosis, Pallor, Hepatomegaly	ORPHA:134
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ...	OMIM:139090
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circu...	OMIM:300972
Abetalipoproteinemia	Reticulocytosis, Hepatomegaly, Cardiomegaly, Acanthocytosis, Hepatic fibrosis, Cirrhosis, Hepatic...	ORPHA:14
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta...	ORPHA:309854
Neuraminidase Deficiency	Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel...	OMIM:256550
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Pancytopenia, Enlarged tonsils, Anemia, Leukopenia, Elliptocytosis, Bone marrow hyp...	ORPHA:2785
Primary Hyperoxaluria Type 1	Calcinosis, Hyperoxaluria, Dysuria, Nephrolithiasis, Stage 5 chronic kidney disease, Nephrocalcin...	ORPHA:93598
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circul...	ORPHA:158048
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:231095
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Generalized lymphadenopathy, Eosinophilia, Cholangitis, Thrombocytopenia, Leukocyto...	ORPHA:3260
Nephronophthisis 1	Polyuria, Stage 5 chronic kidney disease, Hyposthenuria, Renal corticomedullary cysts, Nephronoph...	OMIM:256100
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Oliguria, Lymphocytosis, Hypoch...	ORPHA:514
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia	ORPHA:85212
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Impaired renal concentrating ability, Elevated circulating creatin...	OMIM:266900
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Pallor	ORPHA:324575
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Panhypophysitis	Normochromic anemia, Pallor	ORPHA:95513
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:231111
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutrope...	OMIM:260400
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	ORPHA:264580
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Mediastinal lymphadenopat...	ORPHA:83469
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl...	OMIM:211600
Tyrosinemia, Type I	Hypertyrosinemia, Hepatomegaly, Renal insufficiency, Acute hepatic failure, Elevated hepatic tran...	OMIM:276700
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Adams-Oliver Syndrome 6	Splenomegaly, Hepatic fibrosis, Renal hypoplasia, Portal hypertension	OMIM:616589
Castleman Disease	Renal insufficiency, Generalized lymphadenopathy, Abdominal mass, Elevated circulating C-reactive...	ORPHA:160
Spontaneous Periodic Hypothermia	Pallor	ORPHA:29822
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Thrombocytopenia, Splenomegaly...	OMIM:617591
Senior-Boichis Syndrome	Elevated hepatic transaminase, Portal hypertension, Malformation of the hepatic ductal plate, Con...	ORPHA:84081
Fumarase Deficiency	Intrahepatic cholestasis, Ascites, Polycythemia, Pallor	OMIM:606812
Pituitary Apoplexy	Normochromic anemia, Pallor	ORPHA:95613
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hype...	ORPHA:79124
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hypouricemia, Increased circulating guanosine concentration, Pure re...	OMIM:613179
Pantothenate Kinase-Associated Neurodegeneration	Acanthocytosis	ORPHA:157850
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp...	ORPHA:53035
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia	ORPHA:397596
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Aminoaciduria, Hypoalbu...	OMIM:277900
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ...	ORPHA:1451
Nephronophthisis 11	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Hepatic fibrosis, Nephron...	OMIM:613550
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Thrombocytopenia	OMIM:259700
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Neutrophilia, Elevated ...	ORPHA:829
Immunodeficiency 54	Splenomegaly, Hepatomegaly, Reduced natural killer cell count, Lymphadenopathy	OMIM:609981
Renal Hypoplasia, Bilateral	Hyponatremia, Proteinuria, Chronic kidney disease, Hyperkalemia, Renal hypoplasia, Renal cyst, Ol...	ORPHA:97362
Cyclic Vomiting Syndrome	Pallor	OMIM:500007
Muckle-Wells Syndrome	Hepatomegaly, Splenomegaly, Nephrotic syndrome, Nephropathy, Anemia	ORPHA:575
Thymoma	Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Decreased circulating an...	ORPHA:99867
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Pallor, Anemia	ORPHA:667
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia	ORPHA:169090
Non-Functioning Pituitary Adenoma	Pallor, Anemia of inadequate production	ORPHA:91349
Bone Marrow Failure Syndrome 5	Anemia, Erythroid hypoplasia, Pure red cell aplasia	OMIM:618165
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Renal salt wasting, Elevated circulat...	OMIM:174000
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, ...	ORPHA:567983
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Elliptocytosis, Anemia	OMIM:300990
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic ...	OMIM:251100
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Intestinal lymphangiectasi...	OMIM:226300
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Felty Syndrome	Hepatomegaly, Thrombocytopenia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Neutr...	ORPHA:47612
Majeed Syndrome	Hepatomegaly, Proteinuria, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Hypochromic...	ORPHA:77297
Fanconi Anemia, Complementation Group D2	Pancytopenia, Anemic pallor, Annular pancreas, Reticulocytopenia, Anemia, Bone marrow hypocellula...	OMIM:227646
Osteootohepatoenteric Syndrome	Proteinuria, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Cholestasis, Hypok...	OMIM:619377
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:259710
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Anemia, Thrombocytopenia, Lymphopenia, Portal hypertension	OMIM:620365
Essential Thrombocythemia	Splenomegaly, Abnormal platelet morphology, Acute leukemia	ORPHA:3318
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Abnormal lymphatic vessel morphology, Ascites, Reduced proportion of CD4+ ef...	ORPHA:90362
Combined Oxidative Phosphorylation Deficiency 40	Neonatal death, Decreased liver function, Anemia	OMIM:618835
Paroxysmal Nocturnal Hemoglobinuria	Hemoglobinuria, Leukopenia, Renal Fanconi syndrome, Erythroid hyperplasia, Hemolytic anemia, Reti...	ORPHA:447
Sheehan Syndrome	Normochromic anemia, Dry skin, Pallor	ORPHA:91355
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Normochromic anem...	OMIM:615512
Combined Oxidative Phosphorylation Deficiency 42	Neonatal death, Decreased liver function, Anemia	OMIM:618839
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615486
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Pe...	OMIM:617052
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Ketonuria, Anemia, Aminoaciduria, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia	OMIM:614520
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	HbH hemoglobin, Prolonged neonatal jaundice	ORPHA:423479
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Anemia	ORPHA:3405
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp...	ORPHA:2137
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:615895
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Renal insufficiency, Pancreatic fibrosis, Hepatic cysts, Portal hypertension, Malfo...	OMIM:208540
Eosinophilic Gastroenteritis	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi...	ORPHA:2070
Osteopetrosis, Autosomal Recessive 3	Distal renal tubular acidosis, Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly	OMIM:259730
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome...	OMIM:263200
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopathy	ORPHA:85414
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Kaposiform Lymphangiomatosis	Pancreatic cysts, Thrombocytopenia, Splenomegaly, Abnormality of the lymphatic system, Hepatosple...	ORPHA:464329
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym...	OMIM:602450
Myopathic Ehlers-Danlos Syndrome	Pallor	ORPHA:536516
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome...	ORPHA:131
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Hepatocellular carcinoma, In...	ORPHA:465508
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	ORPHA:79240
Congenital Enterovirus Infection	Abnormal macrophage morphology, Fetal ascites, Thrombocytopenia, Leukocytosis, Hepatitis, Hyperam...	ORPHA:292
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Thrombocytopenia, Splenomegaly, Anemia, Nephrotic syndrome, Focal segm...	OMIM:617303
Common Variable Immunodeficiency	Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased circulating antibody level...	ORPHA:1572
Irida Syndrome	Intrahepatic cholestasis, Pallor	ORPHA:209981
Dravet Syndrome	Pallor	ORPHA:33069
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Unilateral renal agenesis, Portal hypertension, Abno...	OMIM:216360
Cryoglobulinemic Vasculitis	Hepatomegaly, Renal insufficiency, Viral hepatitis, Proteinuria, Mediastinal lymphadenopathy, Spl...	ORPHA:91138
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Gaisböck Syndrome	Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased hematocrit, Elevated...	ORPHA:90041
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Congenital Heart Block	Pallor	ORPHA:60041
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Neph...	ORPHA:29073
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Thrombocytopeni...	OMIM:214500
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp...	ORPHA:436159
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Leukopenia...	ORPHA:470
Immunodeficiency 60 And Autoimmunity	Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count	OMIM:618394
Fanconi Anemia, Complementation Group R	Pelvic kidney, Bone marrow hypocellularity, Anemia	OMIM:617244
Mucopolysaccharidosis, Type Iiib	Heparan sulfate excretion in urine, Hepatomegaly, Splenomegaly, Cardiomegaly	OMIM:252920
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pallor, Polycythemia	ORPHA:892
Tangier Disease	Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Thrombocy...	ORPHA:31150
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenom...	OMIM:259720
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Reduced renal corticomedullary differentiation, Hepatomegaly, Splenomegaly	OMIM:618541
Trichohepatoenteric Syndrome 1	Hepatomegaly, Hypospadias, Increased mean platelet volume, Abnormality of the pancreas, Splenomeg...	OMIM:222470
Non-Functioning Paraganglioma	Pallor	ORPHA:94080
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hepatomegaly, Increased hepatic glycogen content, Pancreatic islet-cell hyperplasia, Pallor	ORPHA:263455
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ...	OMIM:616005
Legionnaires Disease	Hyponatremia, Renal insufficiency, Proteinuria, Splenomegaly, Jaundice, Hepatitis, Lymphadenopath...	ORPHA:549
Neutrophilic Dermatosis, Acute Febrile	Anemia, Elevated circulating C-reactive protein concentration	OMIM:608068
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Hyperglutamatemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Anemia, Hyperglycinemi...	OMIM:620358
Lysinuric Protein Intolerance	Hepatomegaly, Hypolysinemia, Increased circulating ferritin concentration, Thrombocytopenia, Sple...	OMIM:222700
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Pancreatic fibrosis, Hepatocellular car...	OMIM:232220
Neurodegeneration With Brain Iron Accumulation 1	Acanthocytosis	OMIM:234200
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Conjugated hyperbilirubinemia, At...	ORPHA:30391
Kcnq2-Related Epileptic Encephalopathy	Pallor, Facial erythema	ORPHA:439218
Pearson Syndrome	Renal cyst, Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Reticulocytos...	ORPHA:699
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Microvesicular hepatic steatosis, Splenomeg...	OMIM:619418
Good Syndrome	Abnormal leukocyte morphology, Mediastinal lymphadenopathy, Thrombocytopenia, Thymoma, Aplasia/Hy...	ORPHA:169105
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Leukocytosis, Pallor, Pancreatitis, Thrombocytopenia	ORPHA:544482
Lysosomal Acid Lipase Deficiency	Hyponatremia, Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia...	ORPHA:275761
Lead Poisoning	Increased circulating IgE level, Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology	ORPHA:330015
Senior-Loken Syndrome 8	Pancreatic cysts, Pallor, Hepatic cysts, Intrahepatic bile duct dilatation	OMIM:616307
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia,...	OMIM:102700
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Intermittent thrombocytopenia, Erythroid hypoplasia, Thrombocytopenia, Splenomegaly...	OMIM:612541
Syndromic Diarrhea	Hepatomegaly, Increased mean platelet volume, Splenomegaly, Renal hypoplasia, Abnormality of the ...	ORPHA:84064
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B...	OMIM:607626
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Incontinentia Pigmenti	Leukocytosis, Erythema, Eosinophilia, Pallor	OMIM:308300
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Elevated hepatic transaminase, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenome...	ORPHA:37042
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema...	ORPHA:2330
Diamond-Blackfan Anemia 10	Macrocytic anemia, Ectopic kidney, Reticulocytopenia, Steroid-responsive anemia, Anemia	OMIM:613309
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Red urine, Elevated circulating uroporphy...	OMIM:263700
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Thrombocytopenia, Hepatic necrosis, Leukopenia, Increased mean corpuscular volum...	OMIM:127550
Juvenile Polyposis Syndrome	Hypokalemia, Hypoalbuminemia, Anemia	OMIM:174900
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Bone-marrow foam cells, Splenomegaly...	OMIM:257220
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Mixed Connective Tissue Disease	Hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy, Leuko...	ORPHA:809
Scheie Syndrome	Splenomegaly, Hepatomegaly, Mucopolysacchariduria	ORPHA:93474
Chédiak-Higashi Syndrome	Hyponatremia, Abnormal leukocyte morphology, Pancytopenia, Hypertriglyceridemia, Elevated hepatic...	ORPHA:167
Rheumatic Fever	Erythema, Pallor	ORPHA:3099
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormal hemoglobin, Anemia	ORPHA:847
Osteopetrosis, Autosomal Recessive 7	Anemia, Hepatomegaly, Hypocalcemic seizures, Splenomegaly	OMIM:612301
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Thrombocytopenia, Splenomegaly, Hepatitis, Hepatospl...	ORPHA:781
Gaucher Disease, Type Ii	Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:230900
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Pulmonary lymphangiectasia, Hepatospleno...	ORPHA:1655
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Hepatic steatosis, Pallor	ORPHA:348
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b...	ORPHA:3261
Choreoacanthocytosis	Abnormal erythrocyte enzyme level, Splenomegaly, Hepatomegaly, Acanthocytosis	ORPHA:2388
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy	ORPHA:379
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Splenomegaly, Hepatomegaly, Decreased serum zinc	OMIM:201100
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Portal hypertension, Elevated circulat...	OMIM:615688
Degcags Syndrome	Hepatomegaly, Pancytopenia, Congenital hypoplastic anemia, Cholestasis, Hepatosplenomegaly, Leuko...	OMIM:619488
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Calcinosis, Hyponatremia, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Hypoka...	OMIM:617913
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Proteinuria, Splenomegaly, Hematuria, Anemia, Thrombocytopenia	ORPHA:77261
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Pancreatic cysts, S...	OMIM:610199
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Anemia	OMIM:127000
Tay-Sachs Disease	Pallor	OMIM:272800
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:301040
Hyper-Igd Syndrome	Neutrophilia, Lymphadenitis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, Ren...	OMIM:260920
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Hypoalbuminemia, Hepatic fibrosis, Neoplas...	ORPHA:171
Gaucher Disease, Type Iiic	Splenomegaly, Hepatomegaly, Pancytopenia, Cardiomegaly	OMIM:231005
Goodpasture Syndrome	Pallor, Anemia	OMIM:233450
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Familial Tumoral Calcinosis	Nephrocalcinosis, Hepatomegaly, Splenomegaly	ORPHA:53715
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr...	OMIM:301068
Familial Thrombocytosis	Acute myeloid leukemia, Thrombocytosis, Chronic myelogenous leukemia, Splenomegaly	ORPHA:71493
Myopathy, Mitochondrial, And Ataxia	Pallor	OMIM:617675
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Autoimmune thrombocy...	ORPHA:77293
Familial Mediterranean Fever	Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, ...	OMIM:249100
Sporadic Pheochromocytoma/Secreting Paraganglioma	Pallor	ORPHA:276621
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Abnormality of the pancreas, Lymphopenia, Anemia	ORPHA:935
Kikuchi-Fujimoto Disease	Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Elevated circulating C-...	ORPHA:50918
Reynolds Syndrome	Calcinosis, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Biliary cirrhosi...	OMIM:613471
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c...	OMIM:619525
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Multiple renal cysts, Hepatic hemangioma, Polycythemia	OMIM:193300
Cystinosis, Nephropathic	Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets...	OMIM:219800
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Renal hypoplasia	OMIM:612918
Hepatoerythropoietic Porphyria	Hemolytic anemia, Abnormal circulating porphyrin concentration, Splenomegaly, Red urine, Red-brow...	ORPHA:95159
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h...	OMIM:269700
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia, V...	ORPHA:565612
Hereditary Pheochromocytoma-Paraganglioma	Pallor	ORPHA:29072
Prolactinoma	Pallor	ORPHA:2965
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:306400
Histiocytoid Cardiomyopathy	Hepatomegaly, Pallor, Cardiomegaly	ORPHA:137675
Alternating Hemiplegia Of Childhood	Pallor	ORPHA:2131
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Fol...	OMIM:619381
Multiple Endocrine Neoplasia Type 2	Neoplasm of the liver, Cervical lymphadenopathy, Pallor	ORPHA:653
Esophageal Atresia	Pallor	ORPHA:1199
Tsh-Secreting Pituitary Adenoma	Pallor	ORPHA:91347
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Pallor	OMIM:253280
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Pallor, Cardiomegaly	ORPHA:99125

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 Klf1

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 Klf1.

There are 14 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Adipocyte-Specific Modulation of KLF14 Expression in Mice Leads to Sex-Dependent Impacts on Adiposity and Lipid Metabolism.	Diabetes (April 2022)	Klf14^{tm1(KOMP)Vlcg}	35081256
KLF11 protects against abdominal aortic aneurysm through inhibition of endothelial cell dysfunction.	JCI insight (March 2021)	Klf11^{tm2a(KOMP)Wtsi}	PMC8021107
Krüppel-like factor 17 upregulates uterine corin expression and promotes spiral artery remodeling in pregnancy.	Proceedings of the National Academy of Sciences of the United States of America (July 2020)	Klf17^{tm1a(KOMP)Wtsi}	32719113
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Klf1^{em1(IMPC)Wtsi} Klf17^{tm1b(KOMP)Wtsi}	PMC7263671
Transcription Factor KLF14 and Metabolic Syndrome.	Frontiers in cardiovascular medicine (May 2020)	Klf14^{tm1.1(KOMP)Vlcg}	PMC7274157
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Klf17^{tm1b(KOMP)Wtsi}	PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Klf17^{tm1b(KOMP)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Klf17^{tm1b(KOMP)Wtsi}	PMC6459510
KLF11 (Krüppel-Like Factor 11) Inhibits Arterial Thrombosis via Suppression of Tissue Factor in the Vascular Wall.	Arteriosclerosis, thrombosis, and vascular biology (March 2019)	Klf11^{tm2a(KOMP)Wtsi}	30602303
Regulatory variants at KLF14 influence type 2 diabetes risk via a female-specific effect on adipocyte size and body composition.	Nature genetics (April 2018)	Klf14^{tm1(KOMP)Vlcg}	PMC5935235
Germline deletion of Krüppel-like factor 14 does not increase risk of diet induced metabolic syndrome in male C57BL/6 mice.	Biochimica et biophysica acta (September 2017)	Klf14^{tm1.1(KOMP)Vlcg}	28962896
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Klf17^{tm1b(KOMP)Wtsi}	PMC5827107
Transcriptome Analysis of Targeted Mouse Mutations Reveals the Topography of Local Changes in Gene Expression.	PLoS genetics (February 2016)	Klf14^{tm1(KOMP)Vlcg}	PMC4739719
New role for Kruppel-like factor 14 as a transcriptional activator involved in the generation of signaling lipids.	The Journal of biological chemistry (April 2014)	Klf14^{tm1(KOMP)Vlcg}	PMC4140934

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MGI Allele	Allele Type	Produced
Klf1^{tm371803(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Klf1^{em1(IMPC)Wtsi}	Deletion	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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