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Gene: Slc11a2 MGI:1345279

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2

Synonyms:

microcytic anemia, viable anaemia, DMT1, Nramp2, DCT1, van

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 Slc11a2 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 Slc11a2 (1 diseases)
Human diseases predicted to be associated with Slc11a2 (744 diseases)

The table below shows human diseases associated to Slc11a2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Anemia, Hypochromic Microcytic, With Iron Overload 1		Increased circulating iron concentration, Elevated hepatic iron concentration	OMIM:206100

The table below shows human diseases predicted to be associated to Slc11a2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Pallor...	ORPHA:90039
Anemia, Sideroblastic, 4	Sideroblastic anemia, Abnormal erythrocyte morphology	OMIM:182170
Anemia, Congenital Dyserythropoietic, Type Ib	Growth delay, Erythroid hyperplasia, Pallor, Splenomegaly, Anemia of inadequate production, Aniso...	OMIM:615631
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre...	OMIM:603902
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis	OMIM:603529
Diamond-Blackfan Anemia 13	Normocytic anemia, Elevated red cell adenosine deaminase activity	OMIM:615909
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Pallor, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Iron Overload, Susceptibility To	Elevated transferrin saturation, Elevated circulating hepcidin concentration, Elevated hepatic ir...	OMIM:620121
Diamond-Blackfan Anemia 19	Anemia, Erythroid hypoplasia, Steroid-responsive anemia	OMIM:618312
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Hemochromatosis, Type 5	Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir...	OMIM:615517
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy...	ORPHA:67044
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu...	ORPHA:766
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin	ORPHA:231249
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Intrauteri...	ORPHA:2133
Transient Erythroblastopenia Of Childhood	Anemia, Transient erythroblastopenia	OMIM:227050
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis	OMIM:206200
Anemia, Sideroblastic, 1	Sideroblastic anemia, Anemia of inadequate production, Macrocytic anemia, Anemic pallor, Hypochro...	OMIM:300751
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Chromosome 5Q Deletion Syndrome	Erythroid hypoplasia, Refractory macrocytic anemia, Anemia of inadequate production	OMIM:153550
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated...	OMIM:205950
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul...	OMIM:237800
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Congenital Dyserythropoietic Anemia Type Iii	Increased mean corpuscular volume, Abnormal erythrocyte morphology, Pallor, Anisocytosis, Poikilo...	ORPHA:98870
Beta-Thalassemia	Cholelithiasis, Hepatitis, Skin ulcer, Microcytic anemia, Pallor, Splenomegaly, Abnormal hemoglob...	ORPHA:848
Breath-Holding Spells	Iron deficiency anemia, Pallor	OMIM:607578
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, A...	ORPHA:86841
Acute Myelomonocytic Leukemia	Pallor, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia	ORPHA:517
Anemia, Hypochromic Microcytic, With Iron Overload 2	Sideroblastic anemia, Pallor, Splenomegaly, Hypochromia, Poikilocytosis, Anemia, Decreased mean c...	OMIM:615234
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Short stature, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Mild postnatal growth retardation, Re...	OMIM:224120
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice	OMIM:613977
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology	OMIM:300622
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
X-Linked Sideroblastic Anemia	Anemia, Abnormality of iron homeostasis, Pallor, Splenomegaly	ORPHA:75563
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Splenome...	OMIM:616860
Anemia, Hypochromic Microcytic, With Iron Overload 1	Increased circulating iron concentration, Elevated hepatic iron concentration	OMIM:206100
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia	Anemia, Intrauterine growth retardation	ORPHA:2802
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Acanthocytosis, Petechiae, Anemia of inadequate production, Congenital thrombocytopenia, Poikiloc...	OMIM:300367
Majeed Syndrome	Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Anemia of inadequate production, De...	OMIM:609628
Hemoglobin H Disease	Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin	OMIM:613978
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Megaloblastic anemia, Growth delay	OMIM:243320
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato...	OMIM:613673
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P...	OMIM:300835
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Hepatic steatosis, Cirrhosis, Elevated...	ORPHA:53693
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Hyperbilirubinemia, Reticulocytosis, Intermittent jaundice	OMIM:179700
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Rh-Null, Amorph Type	Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis	OMIM:617970
Hemochromatosis, Type 2B	Hepatic fibrosis, Increased circulating iron concentration, Increased circulating ferritin concen...	OMIM:613313
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Hemolytic anemia, Reticulocytosis	OMIM:230450
Protoporphyria, Erythropoietic, 2	Iron deficiency anemia, Increased erythrocyte protoporphyrin concentration	OMIM:618015
Autoinflammation With Episodic Fever And Lymphadenopathy	Microcytic anemia, Splenomegaly	OMIM:618852
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Thrombocytosis, Pyoderma gangrenosum	OMIM:604416
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
Refractory Anemia	Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Neut...	ORPHA:98826
Dominant Beta-Thalassemia	Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F...	ORPHA:231226
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis, Reduced haptoglobin level	OMIM:612126
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Elliptocytosis 1	Hemolytic anemia, Splenomegaly, Pallor, Elliptocytosis	OMIM:611804
Dehydrated Hereditary Stomatocytosis	Neonatal hyperbilirubinemia, Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Inc...	ORPHA:3202
Glutamate-Cysteine Ligase Deficiency	Jaundice, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis	ORPHA:33574
Hemochromatosis, Type 3	Increased circulating iron concentration, Increased circulating ferritin concentration, Lymphopen...	OMIM:604250
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Macrocytic anemia, Neutropenia, Short stature, Growth delay	OMIM:612563
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ...	OMIM:301083
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Pallor, Reticulocy...	OMIM:266200
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Failure to thrive, Hepatosplenomegaly, Pallor, Reticulocytosis, Hypokalemia, Decreased mean corpu...	OMIM:611590
Beta-Thalassemia Major	Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F...	ORPHA:231214
Autosomal Erythropoietic Protoporphyria	Microcytic anemia, Erythema	ORPHA:79278
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Diamond-Blackfan Anemia 4	Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Short stature, Growth delay	OMIM:612527
Atransferrinemia	Abnormality of the liver, Hypochromic anemia, Atransferrinemia	OMIM:209300
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Anisocytosis, Hypochromia, Poikilocytosis, Pyrimidine-r...	OMIM:258900
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:610629
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Anemia of inadequate production, Elliptocytosis	OMIM:166910
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Hypochromic anemia, Microcytic anemia, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyper...	OMIM:600462
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Cholecystit...	OMIM:235700
Intrinsic Factor Deficiency	Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Inc...	OMIM:261000
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Short Fifth Metacarpals-Insulin Resistance Syndrome	Short stature, Spherocytosis, Splenomegaly	ORPHA:66518
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Intrauteri...	OMIM:301310
Cryohydrocytosis	Pseudohyperkalemia, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia	OMIM:185020
Pyropoikilocytosis, Hereditary	Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis	OMIM:266140
Rh Deficiency Syndrome	Stomatocytosis, Hepatosplenomegaly, Intrauterine growth retardation, Reticulocytosis, Macrocytic ...	ORPHA:71275
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm...	ORPHA:824
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Petechiae, Neutropenia, Thromb...	OMIM:616216
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro...	OMIM:619041
Alpha-Thalassemia	Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen...	ORPHA:846
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia, Reduced erythrocyte adenylate kinase activity	OMIM:612631
Elliptocytosis 3	Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis	OMIM:617948
Beta-Thalassemia Intermedia	Cholelithiasis, Skin ulcer, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypogonadi...	ORPHA:231222
Heinz Body Anemias	Heinz bodies, Nonspherocytic hemolytic anemia, Heinz body anemia	OMIM:140700
Harderoporphyria	Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Splenomegaly, Reticulo...	OMIM:618892
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per...	ORPHA:139507
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic dyserythropoietic anemia, Macrocytic anemia	OMIM:619789
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating iron concentration, Increased circulating ferritin concentration, Hypogonad...	ORPHA:300298
Glutamate Formiminotransferase Deficiency	Growth delay, Megaloblastic anemia, Hypersegmentation of neutrophil nuclei	OMIM:229100
Mitochondrial Dna Depletion Syndrome 18	Microcytic anemia	OMIM:618811
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Portal fibrosis, Increased total iron binding capacity, Hyperbilirubinemia, Por...	OMIM:616278
Hereditary Elliptocytosis	Stomatocytosis, Skin ulcer, Postnatal growth retardation, Abnormal erythrocyte morphology, Congen...	ORPHA:288
Spherocytosis, Type 2	Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia	OMIM:616649
Blue Rubber Bleb Nevus	Microcytic anemia	ORPHA:1059
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Increased circula...	OMIM:194380
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Retinitis Pigmentosa And Erythrocytic Microcytosis	Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ...	OMIM:616959
Spherocytosis, Type 4	Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Plummer-Vinson Syndrome	Iron deficiency anemia, Pallor, Decreased circulating ferritin concentration, Hypochromic microcy...	ORPHA:54028
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Petechiae, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:611490
Hb Bart'S Hydrops Fetalis	Anemia, Pallor, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Diamond-Blackfan Anemia 12	Reticulocytopenia, Normochromic anemia, Macrocytic anemia, Elevated red cell adenosine deaminase ...	OMIM:615550
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Majeed Syndrome	Failure to thrive, Leukocytosis, Splenomegaly, Cachexia, Weight loss, Hypochromic microcytic anem...	ORPHA:77297
Megaloblastic Anemia, Folate-Responsive	Folate-responsive megaloblastic anemia, Episodic hemolytic anemia, Schistocytosis, Hypersegmentat...	OMIM:601775
Familial Pseudohyperkalemia	Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia	ORPHA:90044
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Pallor, Reticulocytosi...	ORPHA:35858
Combined Oxidative Phosphorylation Deficiency 53	Elevated circulating C-reactive protein concentration, Hepatomegaly, Failure to thrive, Hypochrom...	OMIM:619423
Erythrocytosis, Familial, 4	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:611783
Pernicious Anemia	Megaloblastic anemia	OMIM:170900
Dermatitis Herpetiformis	Microcytic anemia, Erythema, Skin vesicle	ORPHA:1656
Spherocytosis, Type 1	Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol...	OMIM:182900
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Failure to thrive, Hyperalaninemia, Hypochromic microcytic anemia, Anemia, Increased serum pyruva...	OMIM:619147
Thiamine-Responsive Megaloblastic Anemia Syndrome	Short stature, Pallor, Megaloblastic anemia, Thrombocytopenia	ORPHA:49827
Erythrocytosis, Familial, 5	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617907
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration...	ORPHA:822
Reticular Dysgenesis	Failure to thrive, Aplasia/Hypoplasia of the thymus, Skin ulcer, Leukopenia, Weight loss, Anemia,...	ORPHA:33355
Diamond-Blackfan Anemia 9	Anemia, Growth delay	OMIM:613308
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Elliptocytosis 2	Hemolytic anemia, Reticulocytosis, Elliptocytosis	OMIM:130600
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane...	OMIM:300946
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia	Microcytic anemia, Hypochromic anemia	OMIM:618451
Isobutyryl-Coa Dehydrogenase Deficiency	Anemia	OMIM:611283
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis	OMIM:619398
Diamond-Blackfan Anemia 5	Leukopenia, Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Short stature	OMIM:612528
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen...	ORPHA:232
Nephronophthisis	Anemia	ORPHA:655
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume	OMIM:620044
Protoporphyria, Erythropoietic, X-Linked	Cholelithiasis, Iron deficiency anemia, Increased erythrocyte protoporphyrin concentration	OMIM:300752
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia	ORPHA:54057
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Autoimmune Lymphoproliferative Syndrome	Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Autoimmune hemolytic ane...	OMIM:601859
Hemochromatosis, Type 4	Increased circulating ferritin concentration, Hepatic steatosis, Hepatomegaly, Cirrhosis, Anemia,...	OMIM:606069
Rajab Interstitial Lung Disease With Brain Calcifications 2	Microcytic anemia, Hepatosplenomegaly, Short stature	OMIM:619013
Leishmaniasis	Hypoalbuminemia, Skin ulcer, Pancytopenia, Leukopenia, Pallor, Splenomegaly, Abnormal macrophage ...	ORPHA:507
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Sideroblastic anemia, Growth delay, Pallor	OMIM:613561
Rh-Null, Regulator Type	Stomatocytosis, Hemolytic anemia	OMIM:268150
Sitosterolemia 1	Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Reticulocytosis, Splenomegaly, Redu...	OMIM:210250
Erythrocytosis, Familial, 3	Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass	OMIM:609820
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Microcytic anemia, Short stature, HbH hemoglobin	ORPHA:98791
Reticuloendotheliosis, X-Linked	Anemia, Hepatosplenomegaly	OMIM:312500
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Anemia, Postnatal growth retardation, Severe short stature	OMIM:618728
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a...	OMIM:159550
Triokinase And Fmn Cyclase Deficiency Syndrome	Microcytic anemia	OMIM:618805
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration	Acanthocytosis	OMIM:607236
Ménétrier Disease	Hypoalbuminemia, Weight loss, Hypoproteinemia, Hypochromic microcytic anemia	ORPHA:2494
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto...	OMIM:185000
Mitochondrial Dna Depletion Syndrome 19	Microcytic anemia	OMIM:618972
Erythrocytosis, Familial, 7	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617981
Erythrocytosis, Familial, 6	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617980
Phosphoglycerate Kinase 1 Deficiency	Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis	OMIM:300653
Glutathione Peroxidase Deficiency	Compensated hemolytic anemia, Heinz bodies	OMIM:614164
Congenital Atransferrinemia	Anemia	ORPHA:1195
Congenital Disorder Of Glycosylation, Type Iq	Microcytic anemia, Dry skin, Cutis laxa	OMIM:612379
Aceruloplasminemia	Decreased circulating iron concentration, Abnormal pancreas morphology, Increased circulating fer...	ORPHA:48818
Oslam Syndrome	Short stature, Abnormality of neutrophils, Increased mean corpuscular volume	ORPHA:2760
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocyto...	OMIM:616084
Phosphoglycerate Dehydrogenase Deficiency	Megaloblastic anemia, Thrombocytopenia, Growth delay	OMIM:601815
Acatalasemia	Microcytic anemia	ORPHA:926
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Failure to thrive, Anisocytosis	OMIM:604273
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Hepatosplenomegaly, Neonatal death	OMIM:273680
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume	ORPHA:494444
Refractory Celiac Disease	Normocytic anemia, Hypoalbuminemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology...	ORPHA:398063
Tempi Syndrome	Polycythemia, Ascites, Increased hematocrit, Facial erythema, Increased circulating IgG level	ORPHA:284227
Pulmonary Hemosiderosis	Iron deficiency anemia	OMIM:178550
Ichthyosis, Congenital, Autosomal Recessive 5	White scaling skin, Acanthocytosis	OMIM:604777
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Pancytopenia, Pallor, Megaloblastic anemia, Thrombocytopenia	OMIM:613839
Immunodeficiency 89 And Autoimmunity	Increased circulating IgE level, Increased circulating IgA level, Hypochromic microcytic anemia, ...	OMIM:619632
Acute Peripheral Arterial Occlusion	Leukocytosis, Pallor	ORPHA:90064
Lecithin:Cholesterol Acyltransferase Deficiency	Hemolytic anemia, Normochromic anemia	OMIM:245900
3-Methylglutaconic Aciduria, Type V	Normochromic microcytic anemia, Intrauterine growth retardation, Postnatal growth retardation	OMIM:610198
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Thrombocytopenia, Hypochromic microcytic anemia, Increased circulating ferritin concentration	ORPHA:3240
Autoimmune Lymphoproliferative Syndrome, Type Iia	Reduced delayed hypersensitivity, Petechiae, Chronic noninfectious lymphadenopathy, Autoimmune he...	OMIM:603909
Glycogen Storage Disease Vii	Cholelithiasis, Increased total bilirubin, Reduced erythrocyte 2,3-diphosphoglycerate concentrati...	OMIM:232800
Osteopetrosis, Autosomal Recessive 5	Stillbirth, Extramedullary hematopoiesis, Ascites, Hepatosplenomegaly, Pancytopenia, Leukocytosis...	OMIM:259720
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Hepatosplenomegaly, Short stature	OMIM:619750
Formiminoglutamic Aciduria	Anemia, Megaloblastic anemia	ORPHA:51208
Evans Syndrome	Pallor, Petechiae, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod...	ORPHA:1959
Eosinophilia, Familial	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	OMIM:131400
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia	OMIM:618849
Hypermanganesemia With Dystonia 1	Polycythemia, Increased total iron binding capacity, Cirrhosis, Hypermanganesemia, Hepatomegaly, ...	OMIM:613280
Immunodeficiency 103, Susceptibility To Fungal Infections	Decreased circulating iron concentration, Increased circulating IgE level, Hypereosinophilia, Abn...	OMIM:212050
Hemochromatosis, Type 2A	Increased circulating iron concentration, Increased circulating ferritin concentration, Azoosperm...	OMIM:602390
Ziegler-Huang Syndrome	Persistence of hemoglobin F, Intrauterine growth retardation, Macrocytic anemia, Neutropenia, Gro...	OMIM:620501
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis	ORPHA:713
Diamond-Blackfan Anemia 16	Anemia	OMIM:617408
Abetalipoproteinemia	Acanthocytosis	OMIM:200100
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Failure to thrive, Hepatocellular necrosis, Hepatosplenomegaly, ...	OMIM:618278
Barth Syndrome	Elevated monolysocardiolipin/cardiolipin ratio, Failure to thrive, Cyclic neutropenia, Hypochromi...	OMIM:302060
Abcd Syndrome	Large for gestational age, Polycythemia, Neonatal death	OMIM:600501
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i...	OMIM:617780
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Microcytic anemia, Splenomegaly, Short stature, Bone-marrow foam cells	OMIM:257200
Isolated Sedoheptulokinase Deficiency	Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertension, Hypochromic microcytic an...	ORPHA:440713
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl...	ORPHA:2585
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia	OMIM:133180
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Petechiae, Thrombocytopenia, Anemia, Macrothrombocytopenia	OMIM:187800
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating ...	OMIM:615285
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Vascular Malformation, Primary Intraosseous	Hypochromic anemia	OMIM:606893
Immunodeficiency 69	Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentration, Hepatosplenome...	OMIM:618963
Cold Agglutinin Disease	Hemolytic anemia, Splenomegaly, Pallor	ORPHA:56425
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Splenomegaly, Petechiae, Ecchymosis, Thrombocytopenia, Hemolytic anemia, Increase...	OMIM:153670
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Megaloblastic anemia, Thrombocytopenia	OMIM:598500
Erythrocytosis, Familial, 2	Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell ma...	OMIM:263400
3-Methylglutaconic Aciduria, Type Viia	Anemia, Neutropenia, Anisopoikilocytosis	OMIM:619835
Immunodeficiency 114, Folate-Responsive	Decreased circulating IgG level, Skin ulcer, Increased circulating ferritin concentration, Increa...	OMIM:620603
Srd5A3-Cdg	Microcytic anemia	ORPHA:324737
Fetal Parvovirus Syndrome	Anemia, Intrauterine growth retardation, Thrombocytopenia	ORPHA:295
Fanconi Anemia, Complementation Group G	Anemia, Neutropenia, Thrombocytopenia, Leukemia, Growth delay	OMIM:614082
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis	OMIM:266120
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Lymphocytos...	ORPHA:514
Von Willebrand Disease	Microcytic anemia, Petechiae, Thrombocytopenia	ORPHA:903
Porphyria Cutanea Tarda	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation...	ORPHA:101330
Bleeding Disorder, Platelet-Type, 19	Anemia, Macrothrombocytopenia, Thrombocytopenia	OMIM:616176
Letterer-Siwe Disease	Hepatosplenomegaly, Pallor, Neutropenia, Thrombocytopenia, Anemia	OMIM:246400
Dilated Cardiomyopathy With Ataxia	Normochromic microcytic anemia, Elevated circulating glutaric acid concentration, Hypochromic mic...	ORPHA:66634
Bone Marrow Failure Syndrome 2	Anemia, Leukopenia, Thrombocytopenia	OMIM:615715
Stormorken-Sjaastad-Langslet Syndrome	Anemia, Asplenia, Short stature, Purpura	ORPHA:3204
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anemia, Thrombocytopenia, Neutropenia, Monocytosis	OMIM:620534
Bone Marrow Failure Syndrome 4	Rhizomelia, Dry skin, Leukopenia, Thrombocytopenia, Anemia, Short stature	OMIM:618116
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Hyperlipidemia,...	OMIM:235400
Trimethylaminuria	Anemia, Splenomegaly, Neutropenia	OMIM:602079
Isolated Agammaglobulinemia	Failure to thrive, Skin ulcer, Abnormal lymphocyte morphology, Abnormality of the lymphatic syste...	ORPHA:229717
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane	Nonspherocytic hemolytic anemia	OMIM:206300
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
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Anemic pallor, A...	ORPHA:86839
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
Aceruloplasminemia	Anemia, Decreased circulating iron concentration, Aceruloplasminemia, Increased circulating ferri...	OMIM:604290
Hereditary Folate Malabsorption	Pancytopenia, Pallor, Eosinophilia, Megaloblastic anemia, Thrombocytopenia	ORPHA:90045
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Disproportionate short stature, Lymphopenia, Leukopenia, Neutropenia, Schistocytosis, Anemia, Thr...	OMIM:301110
Alpha-Heavy Chain Disease	Ascites, Splenomegaly, Hypocalcemia, Dysgammaglobulinemia, Hepatomegaly, Lymphadenopathy, Anemia	ORPHA:100025
Imerslund-Grasbeck Syndrome 1	Megaloblastic anemia	OMIM:261100
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Weight l...	ORPHA:100024
Hemophagocytic Lymphohistiocytosis, Familial, 3	Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia	OMIM:608898
Drug-Induced Autoimmune Hemolytic Anemia	Pallor, Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Diamond-Blackfan Anemia 6	Growth delay, Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F	OMIM:612561
Copper Deficiency, Familial Benign	Anemia, Decreased circulating copper concentration, Failure to thrive	OMIM:121270
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Microcytic anemia, Short stature	OMIM:612073
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Pallor, Splenomegaly, Myeloproliferative disorder...	OMIM:254450
Hydrops Fetalis, Nonimmune	Anemia	OMIM:236750
Acute Erythroid Leukemia	Erythroid hypoplasia, Pancytopenia, Anemia, Leukopenia	ORPHA:318
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Microcytic anemia, Moderate intrauterine growth retardation, Severe postnatal growth retardation,...	ORPHA:293967
Aregenerative Anemia	Pancytopenia, Decreased proportion of CD4-positive helper T cells, Pallor, Abnormal proportion of...	ORPHA:101096
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoalbuminemia, Intestinal lymphangiectasia, Ascites, Hepatomegaly, Iron deficiency anemia, Thro...	OMIM:226300
Idiopathic Pulmonary Hemosiderosis	Failure to thrive, Hepatosplenomegaly, Pallor, Cardiomegaly, Iron deficiency anemia, Hepatomegaly	ORPHA:99931
Combined Oxidative Phosphorylation Deficiency 18	Intrauterine growth retardation, Macrocytic anemia, Hypersegmentation of neutrophil nuclei	OMIM:615578
Symptomatic Form Of Hfe-Related Hemochromatosis	Increased circulating ferritin concentration, Infertility, Decreased libido, Portal hypertension,...	ORPHA:465508
Hjv Or Hamp-Related Hemochromatosis	Impotence, Increased circulating ferritin concentration, Hypogonadism, Congenital hepatic fibrosi...	ORPHA:79230
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Postnatal growth retardation, Pancytopenia, Intrauterine growth retardation	OMIM:600546
Klippel-Trénaunay Syndrome	Microcytic anemia	ORPHA:90308
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia, Decreased circulatin...	OMIM:617514
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Reticulocytosis...	OMIM:274150
Trichothiodystrophy 6, Nonphotosensitive	Dry skin, Mild intrauterine growth retardation, Increased HbA2 hemoglobin, Decreased mean corpusc...	OMIM:616943
Prolidase Deficiency	Failure to thrive, Skin ulcer, Splenomegaly, Petechiae, Increased circulating antibody level, Pro...	OMIM:170100
Folate Malabsorption, Hereditary	Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th...	ORPHA:444463
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Anemia	OMIM:618313
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Thiamine-Responsive Megaloblastic Anemia Syndrome	Short stature, Sideroblastic anemia, Thrombocytopenia, Thiamine-responsive megaloblastic anemia	OMIM:249270
Developmental And Epileptic Encephalopathy 50	Anemia, Acanthocytosis, Schistocytosis, Anisopoikilocytosis	OMIM:616457
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ...	OMIM:617021
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Anemia, Anemic pallor, Growth delay	ORPHA:329971
Infantile Liver Failure Syndrome 1	Anemia, Macrocytic anemia	OMIM:615438
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Anemia, Purpura	OMIM:614514
Cernunnos-Xlf Deficiency	Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia, Growth delay	ORPHA:169079
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Increased LDL cholesterol concen...	OMIM:607616
Choreoacanthocytosis	Acanthocytosis	OMIM:200150
Ollier Disease	Anemia, Lymphangioma, Skin ulcer	ORPHA:296
X-Linked Agammaglobulinemia	Failure to thrive, Hepatitis, Skin ulcer, Hypocalcemia, Abnormality of the lymphatic system, Agam...	ORPHA:47
Immunodeficiency 27A	Hypoalbuminemia, Enlarged mesenteric lymph node, Hepatosplenomegaly, Leukocytosis, Splenomegaly, ...	OMIM:209950
Classic Mycosis Fungoides	Erythema, Skin ulcer, Dry skin, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy, He...	ORPHA:2584
Poems Syndrome	Visceromegaly, Polycythemia, Ascites, Hypogonadism, Splenomegaly, Increased circulating antibody ...	ORPHA:2905
Livedoid Vasculopathy	Polycythemia, Abnormal circulating lipid concentration, Skin ulcer, Macular purpura, Pancytopenia...	ORPHA:542643
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,...	OMIM:613101
Hemochromatosis, Neonatal	Hepatic fibrosis, Increased circulating iron concentration, Hepatocellular necrosis, Increased ci...	OMIM:231100
Familial Benign Copper Deficiency	Anemia, Decreased circulating copper concentration	ORPHA:1551
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemi...	OMIM:603552
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Normocytic anemia, Megaloblastic anemia	OMIM:236270
Anemia, Congenital Dyserythropoietic, Type Iiia	Macrocytic anemia, Congenital hypoplastic anemia, Anemia of inadequate production	OMIM:105600
Imerslund-Grasbeck Syndrome 2	Anemia, Megaloblastic anemia, Growth delay	OMIM:618882
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ...	OMIM:202700
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:301040
Somatostatinoma	Intrahepatic cholestasis, Abnormal abdomen morphology, Ascites, Neoplasm of the pancreas, Intermi...	ORPHA:97283
Mixed-Type Autoimmune Hemolytic Anemia	Pallor, Autoimmune hemolytic anemia	ORPHA:90036
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Failure to thrive, Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate producti...	OMIM:612714
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion	OMIM:183350
Vitamin B12-Unresponsive Methylmalonic Acidemia	Anemia, Leukopenia, Thrombocytopenia, Macrocytic anemia	ORPHA:27
Fanconi Anemia, Complementation Group T	Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia, Short stature	OMIM:616435
Hemochromatosis, Type 1	Increased circulating iron concentration, Increased circulating ferritin concentration, Ascites, ...	OMIM:235200
Jervell And Lange-Nielsen Syndrome	Iron deficiency anemia	ORPHA:90647
Chylomicron Retention Disease	Acanthocytosis, Growth delay	ORPHA:71
Hypobetalipoproteinemia, Familial, 1	Acanthocytosis	OMIM:615558
Nephronophthisis 9	Anemia, Postnatal growth retardation	OMIM:613824
Congenital Disorder Of Glycosylation, Type Ii	Hepatomegaly, Iron deficiency anemia, Decreased body weight	OMIM:607906
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Polycythemia, Micronodular cirrhosis, Increased to...	ORPHA:309854
Kasabach-Merritt Phenomenon	Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Abnormal lymphatic vessel morphol...	ORPHA:2330
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating antibody level, Hepatom...	OMIM:614470
Combined Oxidative Phosphorylation Deficiency 14	Increased hepatic glycogen content, Elevated hepatic iron concentration, Copper accumulation in l...	OMIM:614946
Autosomal Dominant Hypophosphatemic Rickets	Hypophosphatemia, Iron deficiency anemia, Hypocalcemia	ORPHA:89937
Amme Complex	Intrauterine growth retardation, Elliptocytosis	OMIM:300194
Sickle Cell Disease	Splenic infarction, Increased red cell sickling tendency, Leukocytosis, Splenomegaly, Target cell...	OMIM:603903
Idiopathic Copper-Associated Cirrhosis	Cirrhosis, Hepatic steatosis, Increased circulating copper concentration, Copper accumulation in ...	ORPHA:209919
Wolcott-Rallison Syndrome	Hypoalbuminemia, Ascites, Exocrine pancreatic insufficiency, Abnormality of the liver, Hyperbilir...	ORPHA:1667
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Microcytic anemia, Neutropenia	OMIM:251900
Birk-Aharoni Syndrome	Macrocytic anemia	OMIM:620071
Asplenia, Isolated Congenital	Howell-Jolly bodies, Asplenia, Thrombocytosis	OMIM:271400
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Folate-unresponsive megaloblastic anemia, Abnormal erythrocyte morphology, Megaloblastic anemia	ORPHA:2575
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Failure to thrive, Splenomegaly, Macrocytic anemia, Hyperprolinemia, Hyperalaninemia, Increased s...	OMIM:619046
Monosomy 22	Hepatosplenomegaly, Aplasia of the thymus, Hypochromic microcytic anemia	ORPHA:96123
Polycythemia Vera	Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Portal hypertension, Portal vein thromb...	ORPHA:729
Autoimmune Hemolytic Anemia, Warm Type	Chronic lymphatic leukemia, Pallor, Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90033
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Stomatocytosis, Growth delay, Splenomegaly, Short stature, Hemolytic anemia	OMIM:608885
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Increased mean corpuscular volume, Growth delay	OMIM:619774
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Leukocytosis, Splenomegaly, Pallor, Thrombocytopenia, Abnormal neutrophil count, ...	ORPHA:3226
Trichohepatoenteric Syndrome 1	Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Small for gestatio...	OMIM:222470
Idiopathic Aplastic Anemia	Bone marrow hypocellularity, Pancytopenia, Ecchymosis, Reticulocytopenia, Thrombocytopenia, Neutr...	ORPHA:88
Progeria-Short Stature-Pigmented Nevi Syndrome	Microcytic anemia, Delayed puberty, T lymphocytopenia, Short stature	ORPHA:2959
Celiac Disease, Susceptibility To, 1	Failure to thrive, Decreased circulating IgA level, Hypocalcemia, Macrocytic anemia, Iron deficie...	OMIM:212750
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Premature skin wrinkling, Intrauterine growth retardation, Acanthocytosis, Poi...	OMIM:618947
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Leukocytosis, R...	ORPHA:90038
Neonatal Hemochromatosis	Prolonged neonatal jaundice, Increased circulating iron concentration, Congenital hepatic fibrosi...	ORPHA:446
Immunodeficiency, Common Variable, 12, With Autoimmunity	Pyoderma gangrenosum, Decreased circulating antibody level, Autoimmune hemolytic anemia, Thromboc...	OMIM:616576
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive...	ORPHA:3261
Hereditary Cryohydrocytosis With Reduced Stomatin	Spontaneous hemolytic crises, Stomatocytosis, Postnatal growth retardation, Hepatosplenomegaly, S...	ORPHA:168577
Immunodeficiency 115 With Autoinflammation	Hypoalbuminemia, Decreased circulating IgG level, Elevated haptoglobin level, Intestinal lymphang...	OMIM:620632
Methylcobalamin Deficiency Type Cble	Increased mean corpuscular volume, Postnatal growth retardation, Pancytopenia, Intrauterine growt...	ORPHA:2169
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Acute leukemia, Skin ulcer, Microcytic anemia, Lymphopenia, Petec...	ORPHA:906
Osteopetrosis, Autosomal Recessive 8	Failure to thrive, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:615085
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Transcobalamin Ii Deficiency	Decreased circulating IgG level, Failure to thrive, Pancytopenia, Decreased circulating IgA level...	OMIM:275350
Maternal Uniparental Disomy Of Chromosome 4	Short stature, Postnatal growth retardation, Abnormal erythrocyte morphology, Acanthocytosis	ORPHA:96180
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Anemia	ORPHA:371
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Syndromic Diarrhea	Hepatic fibrosis, Panhypogammaglobulinemia, Lymphopenia, Abnormality of the liver, Dry skin, Sple...	ORPHA:84064
Gracile Syndrome	Cholestasis, Increased circulating iron concentration, Increased serum pyruvate, Increased circul...	OMIM:603358
Hypocalcemic Vitamin D-Dependent Rickets	Hypochromic anemia, Failure to thrive, Leukocytosis, Splenomegaly, Hypocalcemia, Hypophosphatemia...	ORPHA:289157
Thrombocythemia 1	Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce...	OMIM:187950
Immunodeficiency 32B	Hypoalbuminemia, Failure to thrive, Impaired oxidative burst, Abnormal circulating IgG level, Spl...	OMIM:226990
Diamond-Blackfan Anemia 11	Short stature, Neutropenia, Anemia of inadequate production	OMIM:614900
Congenital Erythropoietic Porphyria	Leukopenia, Erythroid hyperplasia, Abnormal circulating porphyrin concentration, Reticulocytosis,...	ORPHA:79277
Rothmund-Thomson Syndrome, Type 3	Anemia, Severe short stature, Anisopoikilocytosis	OMIM:615789
Gray Platelet Syndrome	Abnormality of the menstrual cycle, Splenomegaly, Thrombocytopenia	ORPHA:721
Leukocyte Adhesion Deficiency Type Ii	Microcytic anemia, Intrauterine growth retardation, Leukocytosis, Skin vesicle, Neutrophilia, Ane...	ORPHA:99843
Dohle Bodies And Leukemia	Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies	OMIM:223350
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, Neutropenia, B lymphocytopenia, Pyoderma g...	OMIM:150550
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Short stature, Neutropenia	OMIM:617243
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Failure to thrive, Increased circulating IgE level, Leukocytosis, Decreased T...	OMIM:618213
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce...	ORPHA:331206
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Pallor, Chronic l...	ORPHA:98849
Acquired Von Willebrand Syndrome	Normocytic anemia, Hypochromic anemia, Metrorrhagia, Refractory anemia, Menorrhagia	ORPHA:99147
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Mcleod Syndrome	Acanthocytosis, Splenomegaly	OMIM:300842
Orthostatic Hypotension 2	Anemia	OMIM:618182
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Impaired ...	OMIM:608203
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia	OMIM:620481
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Short stature, Granulocytopenia, Macrocytic anemia	OMIM:606164
Pancreatic Colipase Deficiency	Megaloblastic anemia	ORPHA:309108
Autoinflammation With Infantile Enterocolitis	Hypoalbuminemia, Reduced natural killer cell count, Failure to thrive, Increased circulating ferr...	OMIM:616050
Immunodeficiency 47	Hepatic bridging fibrosis, Decreased circulating total IgG, Chronic decreased circulating total I...	OMIM:300972
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Short stature, Pallor	ORPHA:2786
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Failure to thrive, Impaired T cell function, Perioral erythema, Hypogonadism, Dry skin, Splenomeg...	OMIM:201100
Abetalipoproteinemia	Hypoalbuminemia, Hepatic fibrosis, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, A...	ORPHA:14
Pearson Syndrome	Bone marrow hypocellularity, Hypomagnesemia, Exocrine pancreatic insufficiency, Pancytopenia, Abn...	ORPHA:699
Hereditary Methemoglobinemia	Methemoglobinemia, Small for gestational age	ORPHA:621
H Syndrome	Microcytic anemia, Hepatosplenomegaly, Delayed puberty, Short stature, Histiocytosis	ORPHA:168569
Paroxysmal Nocturnal Hemoglobinuria	Decreased circulating iron concentration, Impotence, Pancytopenia, Leukopenia, Erythroid hyperpla...	ORPHA:447
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Abnormal circulating eicosanoid concentration, Decreased serum thromboxane B2, Decreased circulat...	OMIM:618372
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hypoalbuminemia, Hepatitis, Hypomagnesemia, Increased circulating IgE level, Failure to thrive in...	ORPHA:37042
Necrobiosis Lipoidica	Erythema, Abnormality of neutrophil physiology, Skin ulcer	ORPHA:542592
Fumarase Deficiency	Intrahepatic cholestasis, Polycythemia, Failure to thrive, Ascites, Hyperbilirubinemia, Pallor	OMIM:606812
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia	OMIM:620367
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Anemia, Petechiae, Purpura, Splenomegaly	OMIM:620296
Wolfram Syndrome 1	Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia, Growth delay	OMIM:222300
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Megaloblastic anemia, Increased mean corpuscular volume	OMIM:277410
Neutrophilic Dermatosis, Acute Febrile	Anemia, Erythema, Elevated circulating C-reactive protein concentration, Pyoderma gangrenosum	OMIM:608068
Fanconi Anemia, Complementation Group E	Pancytopenia, Anemia, Reticulocytopenia, Anemic pallor, Neutropenia, Thrombocytopenia, Leukemia, ...	OMIM:600901
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Growth delay, Persistence...	ORPHA:124
8P11.2 Deletion Syndrome	Growth delay, Splenomegaly, Spherocytosis, Short stature, Hemolytic anemia	ORPHA:251066
Takayasu Arteritis	Anemia, Weight loss, Skin ulcer	ORPHA:3287
Pyridoxal Phosphate-Responsive Seizures	Failure to thrive, Abnormal circulating arginine concentration, Abnormal circulating glycine conc...	ORPHA:79096
Pearson Marrow-Pancreas Syndrome	Erythema, Sideroblastic anemia, Pancytopenia, Pallor, Refractory sideroblastic anemia, Reticulocy...	OMIM:557000
Chilblain Lupus	Chronic myelomonocytic leukemia, Skin ulcer, Increased circulating antibody level	ORPHA:90280
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hemophagocytosis, Increased circulating ferritin concentration, ...	OMIM:613011
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Failure to thrive, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadeno...	OMIM:618495
Oslam Syndrome	Anemia	OMIM:165660
Dyskeratosis Congenita, Autosomal Dominant 3	Aplastic anemia, Growth delay, Dry skin, Pancytopenia, Leukopenia, Intrauterine growth retardatio...	OMIM:613990
Lesch-Nyhan Syndrome	Anemia	ORPHA:510
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Hepatosplenomegaly, Weight loss, Skin ulcer, Hemophagocytosis	ORPHA:86884
Congenital Disorder Of Glycosylation, Type Iit	Decreased serum creatinine, Iron deficiency anemia, Hypotriglyceridemia, Decreased HDL cholestero...	OMIM:618885
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S...	OMIM:612840
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Thrombocytopenia, Normochromic anemia, Neutropenia, Growth delay	OMIM:614857
Glycogen Storage Disease Xii	Normocytic anemia, Splenomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldolase activit...	OMIM:611881
Diamond-Blackfan Anemia 7	Increased mean corpuscular volume, Intrauterine growth retardation, Macrocytic anemia, Neutropeni...	OMIM:612562
Blue Rubber Bleb Nevus	Abnormality of the liver, Iron deficiency anemia, Thrombocytopenia	OMIM:112200
Diamond-Blackfan Anemia 10	Growth delay, Macrocytic anemia, Steroid-responsive anemia, Reticulocytopenia, Anemia, Short stature	OMIM:613309
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Hamamy Syndrome	Microcytic anemia, Hypochromic anemia	OMIM:611174
Fanconi Anemia, Complementation Group A	Pancytopenia, Anemia, Reticulocytopenia, Anemic pallor, Neutropenia, Thrombocytopenia, Leukemia, ...	OMIM:227650
Free Sialic Acid Storage Disease	Skin ulcer, Failure to thrive in infancy, Ascites, Splenomegaly, Hepatomegaly	ORPHA:834
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Short stature, Megaloblastic anemia, Neutropenia, Growth delay	OMIM:250940
Dermatitis, Atopic	Dry skin, Facial erythema, Pallor	OMIM:603165
Oculocerebral Hypopigmentation Syndrome, Preus Type	Abnormality of neutrophils, Hypochromic anemia	ORPHA:2720
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen...	ORPHA:89842
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Combined Immunodeficiency Due To Dock8 Deficiency	Increased circulating IgE level, T lymphocytopenia, Skin ulcer, B lymphocytopenia	ORPHA:217390
Lathosterolosis	Intrauterine growth retardation, Abnormal platelet morphology, Thrombocytopenia, Anisopoikilocytosis	ORPHA:46059
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:105650
Sepsis In Premature Infants	Leukocytosis, Splenomegaly, Pallor, Petechiae, Thrombocytopenia, Neutropenia, Anemia, Purpura	ORPHA:90051
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Elliptocytosis	ORPHA:86818
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Reduced natural killer cell count, Iron deficiency anemia...	OMIM:301074
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Intrauterine growth retardation, Thrombocytopenia, Normochromic anemia	OMIM:618775
Osteopetrosis, Autosomal Recessive 9	Anemia, Postnatal growth retardation	OMIM:620366
Myopathy With Lactic Acidosis, Hereditary	Anemia, Sideroblastic anemia, Leukopenia	OMIM:255125
Diabetes Mellitus, Permanent Neonatal, 1	Elevated hemoglobin A1c, Intrauterine growth retardation	OMIM:606176
Lead Poisoning	Decreased male libido, Imbalanced hemoglobin synthesis, Reduced sperm motility, Increased circula...	ORPHA:330015
Fanconi Anemia, Complementation Group C	Pancytopenia, Intrauterine growth retardation, Anemia, Reticulocytopenia, Anemic pallor, Neutrope...	OMIM:227645
Wilson Disease	Failure to thrive, Hepatitis, Abnormality of the menstrual cycle, Acute hepatitis, Splenomegaly, ...	ORPHA:905
Wolman Disease	Ascites, Splenomegaly, Hepatomegaly, Cachexia, Anemia, Bone-marrow foam cells	ORPHA:75233
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Short stature, Persistence of hemoglobin F	OMIM:617101
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Vexas Syndrome	Thrombocytopenia, Macrocytic anemia	OMIM:301054
Eisenmenger Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Increased mean corpuscular volume,...	ORPHA:97214
Waldenström Macroglobulinemia	Normocytic anemia, Pallor, Splenomegaly, Leukemia, Abnormality of neutrophils, Purpura	ORPHA:33226
Disabling Pansclerotic Morphea Of Childhood	Elevated circulating C-reactive protein concentration, Lymphopenia, Skin ulcer, Neutropenia	OMIM:620443
Maturity-Onset Diabetes Of The Young, Type 14	Elevated hemoglobin A1c	OMIM:616511
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hyper...	OMIM:618398
Diabetes Mellitus, Permanent Neonatal, 4	Elevated hemoglobin A1c, Reduced C-peptide level, Small for gestational age	OMIM:618858
Down Syndrome	Polycythemia, Obesity, Decreased fertility, Acute megakaryocytic leukemia, Abnormality of the lym...	ORPHA:870
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Hepatitis, Exocrine pancreatic insufficiency, Cirrhosis, Iron deficiency anemia, Chronic...	OMIM:269200
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio...	OMIM:267700
Fetal Cytomegalovirus Syndrome	Hepatitis, Splenomegaly, Petechiae, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice, Conjugated ...	ORPHA:294
Hydatidiform Mole	Anemia	ORPHA:99927
Bone Marrow Failure Syndrome 3	Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, In...	OMIM:617052
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Hypoalbuminemia, Lymphopenia, Abnormal lymphocyte morpholo...	ORPHA:99826
Kearns-Sayre Syndrome	Short stature, Sideroblastic anemia	OMIM:530000
Mevalonic Aciduria	Fluctuating splenomegaly, Failure to thrive, Failure to thrive in infancy, Hepatosplenomegaly, Le...	OMIM:610377
Immunodeficiency 7	Failure to thrive, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy,...	OMIM:615387
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No...	OMIM:613470
Optic Atrophy 1	Pallor	OMIM:165500
Wiskott-Aldrich Syndrome	Decreased mean platelet volume, Decreased specific anti-polysaccharide antibody level, Decreased ...	OMIM:301000
Liver Disease, Severe Congenital	Portal inflammation, Hyperbilirubinemia, Hepatic steatosis, Abnormal hepatic echogenicity, Hepato...	OMIM:619991
Omenn Syndrome	Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Ly...	OMIM:603554
Cartilage-Hair Hypoplasia	Neonatal short-limb short stature, Absent pubertal growth spurt, Lymphopenia, Macrocytic anemia, ...	OMIM:250250
Dyskeratosis Congenita, Autosomal Dominant 1	Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leukopenia, Thrombocytopenia, An...	OMIM:127550
Omenn Syndrome	Failure to thrive, Dry skin, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatome...	ORPHA:39041
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Iron deficiency anemia, Weight loss, Chronic noninfectious lymphadenopathy	ORPHA:100075
Fanconi Anemia, Complementation Group I	Short stature, Intrauterine growth retardation, Pallor, Neutropenia	OMIM:609053
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Bone marrow hypocellularity, Skin ulcer, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Leukopeni...	OMIM:615688
Proteasome-Associated Autoinflammatory Syndrome 1	Irregular menstruation, Erythema, Failure to thrive, Decreased HDL cholesterol concentration, Mic...	OMIM:256040
Adenohypophysitis	Pallor, Normochromic anemia	ORPHA:95512
Von Hippel-Lindau Syndrome	Hepatic hemangioma, Pancreatic cysts, Polycythemia, Neoplasm of the pancreas	OMIM:193300
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Foxp1 Syndrome	Decreased circulating iron concentration, Overweight, Failure to thrive	ORPHA:391372
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Anemia, Pallor	OMIM:246450
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Failure to thrive, Increased he...	OMIM:278000
Acquired Purpura Fulminans	Elevated circulating C-reactive protein concentration, Pyoderma gangrenosum, Thrombocytopenia, Ma...	ORPHA:49566
Trichohepatoenteric Syndrome 2	Decreased circulating iron concentration, Failure to thrive, Cirrhosis, Chronic hepatitis, Hepato...	OMIM:614602
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio...	OMIM:603553
Pgm3-Cdg	Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Failure t...	ORPHA:443811
Optic Atrophy 7 With Or Without Auditory Neuropathy	Pallor	OMIM:612989
Triosephosphate Isomerase Deficiency	Normocytic anemia, Splenomegaly, Macrocytic anemia, Hemolytic anemia, Chronic hemolytic anemia, N...	OMIM:615512
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Overweight, Increased size of nasopharyngeal adenoids, Persistence of hemoglobin F	OMIM:619769
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Failure to thrive, Hepatitis, Dry skin, Hyperuricemia, Macrocytic anemia, Hypo...	ORPHA:199299
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Petechiae,...	OMIM:619463
Lathosterolosis	Anisopoikilocytosis	OMIM:607330
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hepatomegaly, Cirrhosis, Elevated hepatic iron concentration, Microvesicular hepatic steatosis	OMIM:300868
Immunodeficiency With Hyper-Igm, Type 1	Increased circulating IgA level, Cirrhosis, Neutropenia, Hepatomegaly, Impaired Ig class switch r...	OMIM:308230
Hepatoportal Sclerosis	Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of t...	ORPHA:64743
Autoinflammation With Arthritis And Dyskeratosis	Failure to thrive, Dry skin, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Hepato...	OMIM:617388
Cyclic Vomiting Syndrome	Growth delay, Pallor	OMIM:500007
Cryoglobulinemic Vasculitis	Skin ulcer, Abnormality of the liver, Splenomegaly, Petechiae, Purpura, Hepatomegaly, Mediastinal...	ORPHA:91138
Panhypophysitis	Pallor, Normochromic anemia	ORPHA:95513
Neuroblastoma	Anemia, Anemic pallor, Thrombocytopenia	ORPHA:635
Shwachman-Diamond Syndrome 1	Failure to thrive, Persistence of hemoglobin F, Exocrine pancreatic insufficiency, Pancytopenia, ...	OMIM:260400
Pyoderma Gangrenosum	Skin vesicle, Skin ulcer, Myeloid leukemia, Increased circulating antibody level	ORPHA:48104
3-Hydroxy-3-Methylglutaric Aciduria	Leukopenia, Leukocytosis, Pallor, Thrombocytosis, Anemia	ORPHA:20
Shwachman-Diamond Syndrome 2	Normocytic anemia, Thrombocytopenia, Short stature, Neutropenia	OMIM:617941
Chronic Granulomatous Disease	Skin ulcer, Splenomegaly, Hepatomegaly, Abnormality of neutrophils, Mediastinal lymphadenopathy, ...	ORPHA:379
Methylmalonic Acidemia With Homocystinuria Type Cblf	Intrauterine growth retardation, Megaloblastic anemia, Neutropenia, Growth delay	ORPHA:79284
Autosomal Dominant Optic Atrophy, Classic Form	Macrocytic anemia	ORPHA:98673
Adult-Onset Still Disease	Bone marrow hypocellularity, Erythema, Hepatitis, Abnormal circulating lipid concentration, Incre...	ORPHA:829
Gray Platelet Syndrome	Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ...	OMIM:139090
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Neutropenia, Anemia, Short stature	OMIM:277380
Shwachman-Diamond Syndrome	Normocytic anemia, Aplastic anemia, Increased mean corpuscular volume, Growth delay, Pancytopenia...	ORPHA:811
Thymoma	Aplastic anemia, Imbalanced hemoglobin synthesis, Weight loss, Leukemia, Pure red cell aplasia, D...	ORPHA:99867
Acute Radiation Syndrome	Skin ulcer, Lymphopenia, Scaling skin, Thrombocytopenia, Granulocytopenia	ORPHA:454831
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Bone marrow hypocellularity, Lymphopenia, Leukopenia, Dry skin, Reticulocytopenia, B lymphocytope...	ORPHA:508542
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Anemia, Short stature, Elliptocytosis	OMIM:300990
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pallor	ORPHA:276608
Pituitary Apoplexy	Pallor, Normochromic anemia	ORPHA:95613
Non-Functioning Pituitary Adenoma	Irregular menstruation, Male hypogonadism, Abnormality of the menstrual cycle, Hypogonadism, Decr...	ORPHA:91349
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Elevated hemoglobin A1c	OMIM:609812
Polyendocrine-Polyneuropathy Syndrome	Short stature, Elevated hemoglobin A1c, Postnatal growth retardation	OMIM:616113
Congenital Disorder Of Glycosylation, Type Iiw	Microcytic anemia, Anemia, Splenomegaly, Thrombocytopenia	OMIM:619525
Tafro Syndrome	Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Elevated circulating C-rea...	ORPHA:457077
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Lymphade...	ORPHA:100026
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Decreased circulating IgG level, Hemophagocytosis, Agranulocytosis, ...	OMIM:301078
Beta-Ketothiolase Deficiency	Leukocytosis, Pallor, Thrombocytosis	ORPHA:134
Pancreatic Triacylglycerol Lipase Deficiency	Exocrine pancreatic insufficiency, Iron deficiency anemia, Weight loss	ORPHA:309031
Catastrophic Antiphospholipid Syndrome	Thrombocytopenia, Skin ulcer, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia	ORPHA:464343
Proteasome-Associated Autoinflammatory Syndrome 3	Failure to thrive, Lymphopenia, Splenomegaly, Increased circulating antibody level, Hepatomegaly,...	OMIM:617591
Pantothenate Kinase-Associated Neurodegeneration	Acanthocytosis	ORPHA:157850
Diffuse Palmoplantar Keratoderma, Bothnian Type	Erythema, Skin ulcer	ORPHA:2337
Von Hippel-Lindau Disease	Polycythemia, Pallor, Pancreatic islet cell adenoma, Pancreatic cysts, Neoplasm of the pancreas	ORPHA:892
Peutz-Jeghers Syndrome	Iron deficiency anemia, Bile duct polyp, Neoplasm of the pancreas, Biliary tract abnormality	OMIM:175200
Nephronophthisis 4	Anemia, Growth delay	OMIM:606966
Lysinuric Protein Intolerance	Hemophagocytosis, Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, I...	ORPHA:470
Ileal Neuroendocrine Tumor	Iron deficiency anemia, Weight loss, Lymphadenopathy, Extrahepatic cholestasis	ORPHA:100078
Pulmonary Arteriovenous Malformation	Iron deficiency anemia, Liver abscess	ORPHA:2038
Gaisböck Syndrome	Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he...	ORPHA:90041
Revesz Syndrome	Macrocytic anemia, Intrauterine growth retardation, Aplastic anemia, Neutropenia	OMIM:268130
Spontaneous Periodic Hypothermia	Pallor	ORPHA:29822
American Trypanosomiasis	Pallor, Splenomegaly	ORPHA:3386
Glucagonoma	Necrolytic migratory erythema, Acanthocytosis, Normochromic anemia	ORPHA:97280
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Lymphopenia, Pyoderma gangrenosum, Eosinophilia, Acute myeloid leukemia, Neutrop...	ORPHA:486
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:612924
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Leukopenia, Thrombocytopenia, Elliptocytosis, Anemia, Short stature	ORPHA:2785
Ogden Syndrome	Polycythemia, Facial wrinkling, Hyperbilirubinemia, Redundant skin, Redundant neck skin, Microves...	OMIM:300855
Dermatofibrosarcoma Protuberans	Erythema, Skin ulcer	ORPHA:31112
Sheehan Syndrome	Dry skin, Pallor, Normochromic anemia	ORPHA:91355
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal reticulocyte morphology	ORPHA:2522
Leukocyte Adhesion Deficiency	Bone marrow hypocellularity, Abnormality of neutrophil physiology, Recurrent tonsillitis, Polycyt...	ORPHA:2968
Chromosome 15Q25 Deletion Syndrome	Polysplenia, Intrauterine growth retardation, Macrocytic anemia, Short stature, Growth delay	OMIM:614294
Beckwith-Wiedemann Syndrome	Visceromegaly, Polycythemia, Abnormal pancreas morphology, Exocrine pancreatic insufficiency, Obe...	ORPHA:116
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Pallor, Thrombocytopenia, Megaloblastic anemia, Neutropenia	OMIM:277400
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Thrombocytopenia, Normochromic anemia	OMIM:254900
Lesch-Nyhan Syndrome	Short stature, Megaloblastic anemia	OMIM:300322
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Toxic Epidermal Necrolysis	Erythema, Skin ulcer, Weight loss, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia	ORPHA:537
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Acute Adrenal Insufficiency	Normocytic anemia, Failure to thrive, Dry skin, Decreased female libido, Hyperuricemia, Hyponatre...	ORPHA:95409
Congenital Heart Block	Intrauterine growth retardation, Pallor	ORPHA:60041
Fanconi Anemia, Complementation Group D2	Pancytopenia, Anemia, Reticulocytopenia, Anemic pallor, Neutropenia, Thrombocytopenia, Leukemia, ...	OMIM:227646
Hyperinsulinism Due To Ucp2 Deficiency	Pallor	ORPHA:276556
Proliferating Trichilemmal Cyst	Skin ulcer	ORPHA:492
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Immunodeficiency 55	Absent natural killer cells, Postnatal growth retardation, Lymphopenia, Intrauterine growth retar...	OMIM:617827
Congenital Factor Xii Deficiency	Penetrating foot ulcers	ORPHA:330
Addison Disease	Normocytic anemia, Thymoma, Failure to thrive, Dry skin, Decreased female libido, Hyperuricemia, ...	ORPHA:85138
Sweet Syndrome	Leukocytosis, Pyoderma gangrenosum, Chronic lymphatic leukemia, Skin vesicle, Acute myeloid leuke...	ORPHA:3243
Hyperparathyroidism, Neonatal Severe	Failure to thrive, Splenomegaly, Hepatomegaly, Hypophosphatemia, Calcinosis, Anemia, Hypercalcemia	OMIM:239200
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Pallor	ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Pallor	ORPHA:276580
Dyskeratosis Congenita, Autosomal Recessive 5	Postnatal growth retardation, Leukopenia, Intrauterine growth retardation	OMIM:615190
Hyperinsulinism Due To Hnf1A Deficiency	Pallor	ORPHA:324575
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Acral ulceration, Skin ulcer	ORPHA:139578
Common Variable Immunodeficiency	Failure to thrive in infancy, Lymphopenia, Abnormality of the liver, Decreased circulating antibo...	ORPHA:1572
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection	Pyoderma gangrenosum	OMIM:619986
Chilblain Lupus 1	Skin ulcer	OMIM:610448
Dyskeratosis Congenita	Bone marrow hypocellularity, Skin ulcer, Splenomegaly, Hepatomegaly, Skin vesicle, Cirrhosis, Thr...	ORPHA:1775
Neuropathy, Hereditary Sensory, Type Iic	Acral ulceration	OMIM:614213
Myopathic Ehlers-Danlos Syndrome	Pallor	ORPHA:536516
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Normochromic anemia	ORPHA:247691
Dravet Syndrome	Pallor	ORPHA:33069
Aplasia Cutis Congenita	Erythema, Skin ulcer	ORPHA:1114
Autoimmune Polyendocrinopathy Type 4	Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Thymoma, Biliary...	ORPHA:227990
Autosomal Recessive Malignant Osteopetrosis	Anemia, Growth delay, Splenomegaly, Pallor	ORPHA:667
Degcags Syndrome	Failure to thrive, Cholestasis, Hepatosplenomegaly, Pancytopenia, Leukopenia, Hyperbilirubinemia,...	OMIM:619488
Idiopathic Hypereosinophilic Syndrome	Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Pallor, Eosinophilia, Thrombocyto...	ORPHA:3260
Multiple Myeloma	Elevated circulating creatinine concentration, Splenomegaly, Increased circulating IgA level, Wei...	ORPHA:29073
Prolidase Deficiency	Erythema, Skin ulcer, Dry skin, Splenomegaly, Hepatomegaly	ORPHA:742
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic fibrosis, Cholestasis, Hepatosplenomegaly, Hepatic steatosis, Decreased serum zinc, Derma...	ORPHA:541423
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Increased circulating IgE level, Skin vesicle, Eosinophilia, Skin ulcer	ORPHA:2314
Polyarteritis Nodosa	Elevated circulating C-reactive protein concentration, Erythema, Weight loss, Skin ulcer	ORPHA:767
Hyperferritinemia With Or Without Cataract	Abnormal transferrin saturation, Decreased transferrin saturation, Abnormal circulating iron conc...	OMIM:600886
Vipoma	Intrahepatic cholestasis, Erythema, Abnormal abdomen morphology, Ascites, Neoplasm of the pancrea...	ORPHA:97282
Dracunculiasis	Skin ulcer	ORPHA:231
Wilson Disease	Hypouricemia, Hypoalbuminemia, Portal fibrosis, Ascites, Hyperbilirubinemia, Splenomegaly, Increa...	OMIM:277900
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Short stature, Intrauterine growth retardation, Megaloblastic anemia	ORPHA:79351
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hepatic fibrosis, Cholelithiasis, Skin ulcer, Abnormality of the spleen, Hepatosplenomegaly, Panc...	ORPHA:2072
Gitelman Syndrome	Hypermagnesemia, Failure to thrive, Hypomagnesemia, Hypocalcemia, Hypokalemia, Iron deficiency an...	ORPHA:358
Non-Functioning Paraganglioma	Pallor	ORPHA:94080
Neurodegeneration With Brain Iron Accumulation 1	Acanthocytosis	OMIM:234200
Acrogeria	Skin ulcer, Excessive wrinkled skin	ORPHA:2500
Incontinentia Pigmenti	Erythema, Leukocytosis, Pallor, Eosinophilia, Short stature	OMIM:308300
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Abnormal circulating selenium concentration, Iron deficiency anemia, Decreased serum zinc, Anemia...	ORPHA:79408
Papa Syndrome	Skin ulcer, Lymphadenopathy, Increased circulating antibody level	ORPHA:69126
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Anemia, Short stature, Abnormal hemoglobin	ORPHA:847
Autoimmune Polyendocrinopathy Type 3	Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Thymoma, Biliary...	ORPHA:227982
Juvenile Hyaline Fibromatosis	Skin ulcer	ORPHA:2028
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Iron deficiency anemia	ORPHA:93315
Primary Sjögren Syndrome	Normocytic anemia, Biliary cirrhosis, Skin ulcer, Chronic active hepatitis, Lymphopenia, Leukopen...	ORPHA:289390
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Hepatoblastoma, Iron deficiency anemia	ORPHA:261584
Infection-Related Hemolytic Uremic Syndrome	Pallor, Hemolytic anemia, Thrombocytopenia, Leukocytosis	ORPHA:544482
Leukocyte Adhesion Deficiency, Type I	Elevated circulating C-reactive protein concentration, Leukocytosis, Skin ulcer	OMIM:116920
Kcnq2-Related Epileptic Encephalopathy	Facial erythema, Pallor	ORPHA:439218
Irida Syndrome	Intrahepatic cholestasis, Decreased circulating copper concentration, Pallor	ORPHA:209981
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	High nonceruloplasmin-bound serum copper, Thrombocytopenia	ORPHA:457351
Flynn-Aird Syndrome	Cachexia, Skin ulcer	ORPHA:2047
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss, Skin ulcer	ORPHA:312
Buerger Disease	Skin ulcer	ORPHA:36258
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Hypoalbuminemia, Failure to thrive, Increased serum bile acid concentration, Cirrhosis, Decreased...	OMIM:242150
Aplasia Cutis-Myopia Syndrome	Skin ulcer	ORPHA:1117
Cushing Disease	Abnormal libido, Skin ulcer, Lymphopenia, Striae distensae, Leukocytosis, Ecchymosis, Increased b...	ORPHA:96253
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Failure to thrive, Hyperammonemia, H...	OMIM:617093
Hyperkeratosis Lenticularis Perstans	Skin ulcer	ORPHA:409
Myopathy, Mitochondrial, And Ataxia	Short stature, Growth delay, Pallor	OMIM:617675
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Elevated circulating creatinine concentration, Weight loss, Increased blood ur...	ORPHA:49041
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Limited Cutaneous Systemic Sclerosis	Skin ulcer	ORPHA:220402
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Purpura, Skin ulcer	ORPHA:743
Rheumatic Fever	Erythema, Pallor	ORPHA:3099
Granulomatosis With Polyangiitis	Weight loss, Skin ulcer, Granulomatosis	OMIM:608710
Hereditary Sensory And Autonomic Neuropathy Type 1	Skin ulcer, Penetrating foot ulcers	ORPHA:36386
Infantile Myofibromatosis	Skin ulcer, Hypercalcemia, Neoplasm of the pancreas	ORPHA:2591
Goodpasture Syndrome	Anemia, Pallor	OMIM:233450
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Pallor	ORPHA:263455
Werner Syndrome	Skin ulcer, Hypogonadism, Slender build, Decreased fertility, Lack of skin elasticity, Secondary ...	ORPHA:902
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Telangiectasia, Hereditary Hemorrhagic, Type 2	Anemia, Cirrhosis, Polycythemia, Hepatic arteriovenous malformation	OMIM:600376
Blau Syndrome	Erythema, Skin ulcer, Dry skin, Abnormality of the liver, Splenomegaly, Lymphadenopathy, Anemia	ORPHA:90340
Autosomal Dominant Kenny-Caffey Syndrome	Growth delay, Postnatal growth retardation, Intrauterine growth retardation, Anemia, Short stature	ORPHA:93325
Fusariosis	Skin ulcer, Abnormality of the spleen, Lymphopenia, Abnormality of the liver, Peritonitis, Neutro...	ORPHA:228119
Mednik Syndrome	Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Decreased circulatin...	ORPHA:171851
Tay-Sachs Disease	Pallor	OMIM:272800
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Choreoacanthocytosis	Abnormal erythrocyte enzyme concentration or activity, Acanthocytosis, Splenomegaly	ORPHA:2388
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Skin ulcer, Lymphadenopathy	ORPHA:424019
Huppke-Brendel Syndrome	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration	OMIM:614482
Congenital Disorder Of Glycosylation, Type Iiq	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration	OMIM:617395
Cog2-Cdg	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration	ORPHA:435934
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Intrauterine growth retardation, Megaloblastic anemia, Thrombocytopenia, Neutropenia, Growth delay	ORPHA:79282
Telangiectasia, Hereditary Hemorrhagic, Type 1	Anemia, Cirrhosis, Polycythemia, Hepatic arteriovenous malformation	OMIM:187300
Lichen Planopilaris	Skin ulcer, Hepatitis	ORPHA:525
Simple Cryoglobulinemia	Monoclonal immunoglobulin M proteinemia, Paraproteinemia, Acral ulceration, Monoclonal elevation ...	ORPHA:91139
Senior-Loken Syndrome 8	Pallor	OMIM:616307
Acrodermatitis Enteropathica	Erythema, Skin ulcer, Failure to thrive, Dry skin, Weight loss	ORPHA:37
Oculocerebrorenal Syndrome Of Lowe	Failure to thrive, Skin ulcer, Azoospermia, Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercho...	ORPHA:534
Reynolds Syndrome	Skin ulcer, Ascites, Cirrhosis, Hepatomegaly, Jaundice	ORPHA:779
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly, Increased serum zinc	OMIM:601979
Calciphylaxis	Hyperphosphatemia, Skin ulcer	ORPHA:280062
Granulomatosis With Polyangiitis	Skin ulcer, Prostatitis, Weight loss, Pancreatitis, Granulomatosis, Elevated circulating C-reacti...	ORPHA:900
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Cushing Syndrome Due To Ectopic Acth Secretion	Abnormal libido, Skin ulcer, Abnormal lymph node morphology, Pancreatic adenocarcinoma, Lymphopen...	ORPHA:99889
Amoebiasis Due To Free-Living Amoebae	Increased red blood cell count, Skin ulcer	ORPHA:68
Chronic Mucocutaneous Candidiasis	Erythema, Dyspareunia, Hepatitis, Skin ulcer	ORPHA:1334
Brooke-Spiegler Syndrome	Skin ulcer	ORPHA:79493
Fructose-1,6-Bisphosphatase Deficiency	Pallor	ORPHA:348
Sporadic Pheochromocytoma/Secreting Paraganglioma	Pallor	ORPHA:276621
Juvenile Dermatomyositis	Erythema, Skin ulcer, Dry skin, Elevated circulating creatine kinase concentration, Weight loss, ...	ORPHA:93672
Neurodegeneration And Seizures Due To Copper Transport Defect	Cardiomegaly, Abnormal circulating copper concentration, Abnormal circulating ceruloplasmin conce...	OMIM:620306
Infantile Systemic Hyalinosis	Skin ulcer, Failure to thrive, Aplasia/Hypoplasia of the thymus	ORPHA:2176
Mhc Class I Deficiency 1	Skin ulcer	OMIM:604571
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Abnormal circulating copper concentration	ORPHA:521411
Slc39A8-Cdg	Failure to thrive in infancy, Hypomanganesemia, Abnormality of the liver, Abnormal blood zinc con...	ORPHA:468699
Adult Polyglucosan Body Disease	Skin ulcer	ORPHA:206583
Giant Cell Arteritis	Weight loss, Mediastinal lymphadenopathy, Skin ulcer	ORPHA:397
Dermatoosteolysis, Kirghizian Type	Skin ulcer	ORPHA:1657
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Anemia, Decreased circulating iron concentration	ORPHA:438213
Prolactinoma	Delayed puberty, Pallor	ORPHA:2965
Diffuse Cutaneous Systemic Sclerosis	Dyspareunia, Skin ulcer	ORPHA:220393
Familial Multiple Nevi Flammei	Skin ulcer	ORPHA:624
Incontinentia Pigmenti	Erythema, Eosinophilia, Skin ulcer	ORPHA:464
Hajdu-Cheney Syndrome	Skin ulcer, Failure to thrive, Dry skin, Splenomegaly, Hepatomegaly	ORPHA:955
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome	Skin ulcer	ORPHA:2218
Dermatomyositis	Erythema, Abnormal eosinophil morphology, Skin ulcer, V-sign, Dry skin, Elevated circulating crea...	ORPHA:221
Hereditary Pheochromocytoma-Paraganglioma	Pallor	ORPHA:29072
Microscopic Polyangiitis	Erythema, Peritonitis, Pancreatitis, Skin ulcer	ORPHA:727
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Skin ulcer	OMIM:613640
Zinc Deficiency, Transient Neonatal	Decreased serum zinc	OMIM:608118
Meige Disease	Lymph node hypoplasia, Skin ulcer, Absence of lymph node germinal center	ORPHA:90186
Fanconi Anemia	Growth delay, Leukopenia, Intrauterine growth retardation, Thrombocytopenia, Anemia, Short statur...	ORPHA:84
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Erythema, Skin ulcer	ORPHA:659
Neuropathy, Hereditary Sensory And Autonomic, Type Iib	Acral ulceration	OMIM:613115
Alkaptonuria	Methemoglobinemia, Prostatitis, Hemolytic anemia, Black pigment gallstones	ORPHA:56
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Elevated circulating creatinine concentration, Reduced hematocrit, Increased c...	ORPHA:91500
Attenuated Chédiak-Higashi Syndrome	Skin ulcer	ORPHA:352723
Alternating Hemiplegia Of Childhood	Pallor	ORPHA:2131
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Leukemia, Dry skin, Skin ulcer, Scaling skin	ORPHA:2526
Chime Syndrome	Erythema, Acute leukemia, Skin ulcer	ORPHA:3474
Chronic Graft Versus Host Disease	Erythema, Skin ulcer, Ascites, Pancytopenia, Skin vesicle, Weight loss	ORPHA:99921
Malakoplakia	Abnormality of the menstrual cycle, Skin ulcer, Follicular hyperplasia, Orchitis	ORPHA:556
Esophageal Atresia	Growth delay, Pallor	ORPHA:1199
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Acral ulceration	OMIM:162400
Ectodermal Dysplasia-Blindness Syndrome	Skin ulcer	ORPHA:1806
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anemia, Skin ulcer, Neutropenia	ORPHA:95455
Atypical Werner Syndrome	Failure to thrive, Skin ulcer, Hypogonadism, Decreased fertility, Hepatic steatosis, Decreased bo...	ORPHA:79474
Histiocytoid Cardiomyopathy	Pallor	ORPHA:137675
Tsh-Secreting Pituitary Adenoma	Delayed puberty, Pallor	ORPHA:91347
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Hypotriglyceridemia, Decreased circulating apolipoprotein B concentration, Acral ulceration	OMIM:256840
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Failure to thrive, Micronodular cirrhosis, Hepatocellular necrosis, Cholestasis, Ascites, Hepatic...	OMIM:256810
Parkes Weber Syndrome	Scaling skin, Abnormal circulating B-type natriuretic peptide concentration, Skin ulcer, Abnormal...	ORPHA:90307
Plague	Lymphadenitis, Skin ulcer, Dry skin, Splenomegaly, Hepatomegaly, Enlarged mesenteric lymph node	ORPHA:707
Adult Syndrome	Dry skin, Skin ulcer	ORPHA:978
Immunoglobulin A Vasculitis	Erythema, Purpura, Skin ulcer, Orchitis	ORPHA:761
Leprosy	Abnormality of the spleen, Abnormality of the liver, Acral ulceration, Penetrating foot ulcers	ORPHA:548
Familial Keratoacanthoma	Skin ulcer	ORPHA:493
Multiple Endocrine Neoplasia Type 2	Pallor	ORPHA:653
Hereditary Acrokeratotic Poikiloderma	Erythema, Skin ulcer	ORPHA:2907
Systemic Sclerosis	Digital ulcer, Acral ulceration, Elevated circulating creatine kinase concentration	ORPHA:90291
Occipital Horn Syndrome	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Re...	OMIM:304150
Acute Transverse Myelitis	Decreased circulating copper concentration, Priapism, Abnormal libido	ORPHA:139417
Wrinkly Skin Syndrome	Failure to thrive, Excessive wrinkled skin, Cutis laxa, Excessive skin wrinkling on dorsum of han...	ORPHA:2834
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Acral ulceration	OMIM:201300
Neuropathy, Hereditary Sensory And Autonomic, Type V	Acral ulceration	OMIM:608654
Charcot-Marie-Tooth Disease Type 4B2	Penetrating foot ulcers	ORPHA:99956
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Pallor	OMIM:253280
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Skin ulcer	OMIM:245660
Insensitivity To Pain, Congenital, With Anhidrosis	Acral ulceration	OMIM:256800
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Skin ulcer, Lymphadenopathy	ORPHA:424016
Blau Syndrome	Skin ulcer	OMIM:186580
Congenital Total Pulmonary Venous Return Anomaly	Pallor	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 Slc11a2

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 Slc11a2.

No publications found that use IMPC mice or data for Slc11a2.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Slc11a2^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Slc11a2^{tm297156(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Slc11a2^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

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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