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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 (730 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 serum iron, 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	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Anemia, Sideroblastic, 4	Abnormal erythrocyte morphology, Sideroblastic anemia	OMIM:182170
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Short stature, Anisocytosis, Anemia of inadequate production, Splenomegaly, Grow...	OMIM:615631
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Pallor, Anemia	ORPHA:46532
Iron Overload, Susceptibility To	Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat...	OMIM:620121
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
Diamond-Blackfan Anemia 13	Normocytic anemia	OMIM:615909
Hemochromatosis, Type 5	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati...	OMIM:615517
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Hemoglobin E-Beta-Thalassemia Syndrome	Abnormal hemoglobin, Anemia	ORPHA:231249
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Anemia, Sideroblastic, 1	Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro...	OMIM:300751
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis	OMIM:206200
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Chromosome 5Q Deletion Syndrome	Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia	OMIM:153550
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati...	OMIM:205950
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Genetic Hyperferritinemia Without Iron Overload	Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe...	ORPHA:254704
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili...	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	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Congenital Dyserythropoietic Anemia Type Iii	Short stature, Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, ...	ORPHA:98870
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Breath-Holding Spells	Iron deficiency anemia, Pallor	OMIM:607578
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia	ORPHA:517
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly...	ORPHA:848
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Mild postnatal growth retardation, Anemia of inadequate produc...	OMIM:224120
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology	OMIM:300622
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Short stature, Abnormal hemoglobin, Anemia	ORPHA:3319
Anemia, Hypochromic Microcytic, With Iron Overload 2	Splenomegaly, Growth delay, Decreased mean corpuscular volume, Pallor, Poikilocytosis, Hypochromi...	OMIM:615234
Cyanosis, Transient Neonatal	Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
X-Linked Sideroblastic Anemia	Abnormality of iron homeostasis, Splenomegaly, Pallor, Anemia	ORPHA:75563
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Increased circ...	OMIM:616860
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Congenital thrombocytopenia, Pet...	OMIM:300367
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia	Intrauterine growth retardation, Anemia	ORPHA:2802
Anemia, Hypochromic Microcytic, With Iron Overload 1	Increased serum iron, Elevated hepatic iron concentration	OMIM:206100
Majeed Syndrome	Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Growth delay, Decreased m...	OMIM:609628
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, 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
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Growth delay, Megaloblastic anemia	OMIM:243320
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Protoporphyria, Erythropoietic, 2	Iron deficiency anemia	OMIM:618015
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce...	ORPHA:53693
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice	OMIM:179700
Fetal Cytomegalovirus Syndrome	Splenomegaly, Anemia	ORPHA:294
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Thrombocytosis, Anemia of ...	ORPHA:75564
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Pallor, Poikilocytosis, Fava bean-indu...	OMIM:300908
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa...	OMIM:613313
Autoinflammation With Episodic Fever And Lymphadenopathy	Splenomegaly, Microcytic anemia	OMIM:618852
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe...	ORPHA:232
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Microcytic anemia, Pyoderma gangrenosum, Hepatosplenomegaly, Thrombocytosis	OMIM:604416
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Poikilocytosis, Anemia	OMIM:616959
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr...	ORPHA:231226
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Elliptocytosis, Pallor	OMIM:611804
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis	OMIM:612126
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Petechiae, Reduced platelet ...	OMIM:314050
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Glutamate-Cysteine Ligase Deficiency	Hepatosplenomegaly, Hemolytic anemia, Jaundice, Reticulocytosis	ORPHA:33574
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Hemochromatosis, Type 3	Purpura, Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Elevated tr...	OMIM:604250
Diamond-Blackfan Anemia 8	Macrocytic anemia, Short stature, Growth delay, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hypokal...	OMIM:611590
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Beta-Thalassemia Major	Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ...	ORPHA:231214
Autosomal Erythropoietic Protoporphyria	Erythema, Microcytic anemia	ORPHA:79278
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal...	OMIM:612690
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Diamond-Blackfan Anemia 4	Macrocytic anemia, Short stature, Erythroid hypoplasia, Reticulocytopenia, Growth delay, Neutropenia	OMIM:612527
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Elliptocytosis, Anemia of inadequate production	OMIM:166910
Orotic Aciduria	Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi...	OMIM:258900
Atransferrinemia	Abnormality of the liver, Atransferrinemia, Hypochromic anemia	OMIM:209300
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Intrinsic Factor Deficiency	Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio...	OMIM:261000
Pyropoikilocytosis, Hereditary	Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis	OMIM:266140
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis, Short stature	ORPHA:66518
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Sideroblastic anemia, Hypochromic microcytic anemia	OMIM:301310
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Growth delay, Pallor, Hypochromic a...	OMIM:600462
Dermatitis Herpetiformis	Skin vesicle, Erythema, Microcytic anemia	ORPHA:1656
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome...	ORPHA:71275
Elliptocytosis 3	Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia	OMIM:617948
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Thrombocytopenia 5	Petechiae, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia...	OMIM:616216
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H...	OMIM:235700
Harderoporphyria	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Increased circulating ferritin con...	OMIM:618892
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia	OMIM:140700
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating ferritin concentration, Anisopoikilocytosis, Reticulocytopenia, Hepatosplen...	ORPHA:300298
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra...	ORPHA:139507
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Postnatal growt...	ORPHA:288
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Primary Myelofibrosis	Pancytopenia, Extramedullary hematopoiesis, Petechiae, Thrombocytopenia, Leukocytosis, Splenomega...	ORPHA:824
Mitochondrial Dna Depletion Syndrome 18	Microcytic anemia	OMIM:618811
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic anemia, Macrocytic dyserythropoietic anemia	OMIM:619789
Glutamate Formiminotransferase Deficiency	Growth delay, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia	OMIM:229100
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis	OMIM:616649
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased circulating ferritin concentrati...	OMIM:194380
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Petechiae, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Blue Rubber Bleb Nevus	Microcytic anemia	ORPHA:1059
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia	OMIM:612653
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Plummer-Vinson Syndrome	Iron deficiency anemia, Decreased circulating ferritin concentration, Pallor, Hypochromic microcy...	ORPHA:54028
Hb Bart'S Hydrops Fetalis	Splenomegaly, Pallor, Abnormal hemoglobin, Anemia	ORPHA:163596
Megaloblastic Anemia, Folate-Responsive	Episodic hemolytic anemia, Schistocytosis, Folate-responsive megaloblastic anemia, Hypersegmentat...	OMIM:601775
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Familial Pseudohyperkalemia	Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume	ORPHA:90044
Majeed Syndrome	Hepatomegaly, Cachexia, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Hypochromic mi...	ORPHA:77297
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho...	OMIM:182900
Combined Oxidative Phosphorylation Deficiency 53	Hepatomegaly, Failure to thrive, Elevated circulating C-reactive protein concentration, Hypochrom...	OMIM:619423
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Reticulocytosis	OMIM:130600
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Increased serum pyruvate, Small for gestational age, Hypochromic microcytic anemia, Hyperalaninem...	OMIM:619147
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno...	ORPHA:822
Pernicious Anemia	Megaloblastic anemia	OMIM:170900
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Thiamine-Responsive Megaloblastic Anemia Syndrome	Short stature, Pallor, Thrombocytopenia, Megaloblastic anemia	ORPHA:49827
Protoporphyria, Erythropoietic, X-Linked	Iron deficiency anemia, Cholelithiasis, Increased erythrocyte protoporphyrin concentration	OMIM:300752
Diamond-Blackfan Anemia 9	Growth delay, Anemia	OMIM:613308
Reticular Dysgenesis	Abnormality of neutrophils, Skin ulcer, Decreased circulating antibody level, Weight loss, Leukop...	ORPHA:33355
Isobutyryl-Coa Dehydrogenase Deficiency	Anemia	OMIM:611283
Nephronophthisis	Anemia	ORPHA:655
Diamond-Blackfan Anemia 5	Macrocytic anemia, Short stature, Erythroid hypoplasia, Reticulocytopenia, Leukopenia	OMIM:612528
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Anemia	OMIM:619398
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias	OMIM:620044
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:54057
Imerslund-Grasbeck Syndrome 2	Megaloblastic anemia	OMIM:618882
Hemochromatosis, Type 4	Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Impo...	OMIM:606069
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia	Hypochromic anemia, Microcytic anemia	OMIM:618451
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, I...	OMIM:601859
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration	Acanthocytosis	OMIM:607236
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Growth delay, Sideroblastic anemia, Pallor	OMIM:613561
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Reduced haptoglobin level, Thrombocytopenia, Spleno...	OMIM:210250
Diamond-Blackfan Anemia 12	Macrocytic anemia, Reticulocytopenia, Normochromic anemia	OMIM:615550
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Short stature, Microcytic anemia	ORPHA:98791
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Skin ulcer, Lymphadenop...	ORPHA:507
Triokinase And Fmn Cyclase Deficiency Syndrome	Microcytic anemia	OMIM:618805
Reticuloendotheliosis, X-Linked	Anemia, Hepatosplenomegaly	OMIM:312500
Rh-Null, Regulator Type	Hemolytic anemia, Stomatocytosis	OMIM:268150
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia, Weight loss	ORPHA:2494
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Phosphoglycerate Kinase 1 Deficiency	Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis	OMIM:300653
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Immunodeficiency 89 And Autoimmunity	Elevated circulating C-reactive protein concentration, Increased circulating IgA level, Increased...	OMIM:619632
Glutathione Peroxidase Deficiency	Heinz bodies, Compensated hemolytic anemia	OMIM:614164
Congenital Atransferrinemia	Anemia	ORPHA:1195
Mitochondrial Dna Depletion Syndrome 19	Microcytic anemia	OMIM:618972
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hepatosplenomegaly, Short stature, Microcytic anemia	OMIM:619013
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Oslam Syndrome	Increased mean corpuscular volume, Short stature, Abnormality of neutrophils	ORPHA:2760
Pulmonary Hemosiderosis	Iron deficiency anemia	OMIM:178550
Congenital Disorder Of Glycosylation, Type Iq	Dry skin, Cutis laxa, Microcytic anemia	OMIM:612379
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ...	OMIM:616084
Aceruloplasminemia	Refractory anemia, Decreased circulating ceruloplasmin concentration, Decreased circulating coppe...	ORPHA:48818
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Anemia, Hepatosplenomegaly	OMIM:273680
Ichthyosis, Congenital, Autosomal Recessive 5	White scaling skin, Acanthocytosis	OMIM:604777
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Failure to thrive, Anisocytosis	OMIM:604273
Lecithin:Cholesterol Acyltransferase Deficiency	Hemolytic anemia, Normochromic anemia	OMIM:245900
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Acatalasemia	Microcytic anemia	ORPHA:926
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Phosphoglycerate Dehydrogenase Deficiency	Growth delay, Thrombocytopenia, Megaloblastic anemia	OMIM:601815
Tempi Syndrome	Facial erythema, Increased circulating IgG level, Increased hematocrit, Ascites, Polycythemia	ORPHA:284227
Acute Peripheral Arterial Occlusion	Leukocytosis, Pallor	ORPHA:90064
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Jaundice, ...	OMIM:232800
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,...	ORPHA:398063
Formiminoglutamic Aciduria	Anemia, Megaloblastic anemia	ORPHA:51208
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Megaloblastic anemia, Increased mean corpuscular volume, Pallor, Thrombocytopenia	OMIM:613839
3-Methylglutaconic Aciduria, Type V	Normochromic microcytic anemia, Intrauterine growth retardation, Postnatal growth retardation	OMIM:610198
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic...	OMIM:259720
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl...	OMIM:618963
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Hepatosplenomegaly, Short stature, Microcytic anemia	OMIM:619750
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Petechiae, Eosinophilia, Chronic noninfectious lymphad...	OMIM:603909
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Increased circulating IgE level, Hypereosinophilia, ...	OMIM:212050
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concent...	OMIM:602390
Abetalipoproteinemia	Acanthocytosis	OMIM:200100
Red Cell Permeability Defect	Elliptocytosis	OMIM:179650
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis	ORPHA:713
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Failure to thri...	OMIM:618278
Hypermanganesemia With Dystonia 1	Hepatomegaly, Hypermanganesemia, Increased total iron binding capacity, Cirrhosis, Unconjugated h...	OMIM:613280
Evans Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop...	ORPHA:1959
Niemann-Pick Disease, Type A	Short stature, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Sea-blue histiocytosis	OMIM:257200
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy...	OMIM:617780
Abcd Syndrome	Neonatal death, Polycythemia, Large for gestational age	OMIM:600501
Diamond-Blackfan Anemia 16	Anemia	OMIM:617408
Isolated Sedoheptulokinase Deficiency	Portal hypertension, Hepatitis, Cholestasis, Hypochromic microcytic anemia, Cholestatic liver dis...	ORPHA:440713
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia	OMIM:133180
Vascular Malformation, Primary Intraosseous	Hypochromic anemia	OMIM:606893
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased...	OMIM:615285
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Increased circulating ferritin concentration, Hypochromic microcytic anemia, Thrombocytopenia	ORPHA:3240
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:598500
Cold Agglutinin Disease	Splenomegaly, Hemolytic anemia, Pallor	ORPHA:56425
Erythrocytosis, Familial, 2	Increased red blood cell mass, Failure to thrive, Increased hematocrit, Increased hemoglobin	OMIM:263400
Bleeding Disorder, Platelet-Type, 16	Petechiae, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Thrombocytopenia	OMIM:187800
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Petechiae, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Ecchym...	OMIM:153670
3-Methylglutaconic Aciduria, Type Viia	Anisopoikilocytosis, Anemia, Neutropenia	OMIM:619835
Barth Syndrome	Cyclic neutropenia, Hypochromic microcytic anemia, Granulocytopenia, Neutropenia, Failure to thrive	OMIM:302060
Acute Erythroid Leukemia	Anemia, Erythroid hypoplasia, Pancytopenia, Leukopenia	ORPHA:318
Fetal Parvovirus Syndrome	Thrombocytopenia, Anemia, Intrauterine growth retardation	ORPHA:295
Fanconi Anemia, Complementation Group G	Growth delay, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:614082
Wt Limb-Blood Syndrome	Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia	OMIM:194350
Dilated Cardiomyopathy With Ataxia	Bilateral cryptorchidism, Microvesicular hepatic steatosis, Hypochromic microcytic anemia, Normoc...	ORPHA:66634
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Weight loss, Lymphocytosis, Hyp...	ORPHA:514
Letterer-Siwe Disease	Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia	OMIM:246400
Srd5A3-Cdg	Microcytic anemia	ORPHA:324737
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M...	OMIM:235400
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Hep...	ORPHA:101330
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Short stature, Anemia, Purpura	ORPHA:3204
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Anemia	OMIM:615715
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
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
Isolated Agammaglobulinemia	Failure to thrive, Abnormality of the tonsils, Abnormality of neutrophils, Thrombocytopenia, Abno...	ORPHA:229717
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl...	OMIM:617514
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukocytosis, Abnormal me...	ORPHA:86839
Aceruloplasminemia	Decreased serum iron, Aceruloplasminemia, Increased circulating ferritin concentration, Anemia	OMIM:604290
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:612631
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
Copper Deficiency, Familial Benign	Failure to thrive, Decreased circulating copper concentration, Anemia	OMIM:121270
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Megaloblastic anemia, Pallor, Thrombocytopenia	ORPHA:90045
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly	OMIM:608898
Imerslund-Grasbeck Syndrome 1	Megaloblastic anemia	OMIM:261100
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Increased circul...	ORPHA:100024
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Growth delay	OMIM:612561
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Short stature, Microcytic anemia	OMIM:612073
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Pallor	ORPHA:90037
Alpha-Heavy Chain Disease	Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascites, Anemia	ORPHA:100025
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Pallor, Neutropenia, Decreased proportion ...	ORPHA:101096
Hydrops Fetalis, Nonimmune	Anemia	OMIM:236750
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia	OMIM:600546
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Jaundice, Schistocytosis, Elevated circulating creatinine concentration, Increas...	OMIM:274150
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Short stature, Microcytic anemia, Severe postnatal growth retardation, Delayed puberty, Moderate ...	ORPHA:293967
Combined Oxidative Phosphorylation Deficiency 18	Intrauterine growth retardation, Macrocytic anemia, Hypersegmentation of neutrophil nuclei	OMIM:615578
Hjv Or Hamp-Related Hemochromatosis	Congenital hepatic fibrosis, Increased circulating ferritin concentration, Elevated transferrin s...	ORPHA:79230
Klippel-Trénaunay Syndrome	Microcytic anemia	ORPHA:90308
Bone Marrow Failure Syndrome 4	Rhizomelia, Short stature, Anemia, Leukopenia, Dry skin, Thrombocytopenia	OMIM:618116
Folate Malabsorption, Hereditary	Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Decreased circulating antibody level, Iron deficiency anemia, Hypoalbuminemia, Thro...	OMIM:226300
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia, Pallor, Failure to thrive	ORPHA:99931
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomegal...	ORPHA:465508
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Growth delay, Anemic pallor, Anemia	ORPHA:329971
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Anemia	OMIM:618313
Hypobetalipoproteinemia, Familial, 1	Acanthocytosis	OMIM:615558
Developmental And Epileptic Encephalopathy 50	Schistocytosis, Anisopoikilocytosis, Anemia, Acanthocytosis	OMIM:616457
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er...	OMIM:617021
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Short stature, Thrombocytopenia	OMIM:249270
Choreoacanthocytosis	Acanthocytosis	OMIM:200150
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, Growth delay, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Anemia, Purpura	OMIM:614514
Infantile Liver Failure Syndrome 1	Macrocytic anemia, Anemia	OMIM:615438
Niemann-Pick Disease, Type B	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cel...	OMIM:607616
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Increased circulating ferritin concentratio...	OMIM:613101
Ollier Disease	Lymphangioma, Skin ulcer, Anemia	ORPHA:296
Livedoid Vasculopathy	Pancytopenia, Leukocytosis, Skin ulcer, Hyperhomocystinemia, Macular purpura, Ecchymosis, Abnorma...	ORPHA:542643
Pancreatic Colipase Deficiency	Growth delay, Megaloblastic anemia	ORPHA:309108
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Cryptorchidism, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:301040
X-Linked Agammaglobulinemia	Abnormality of the tonsils, Abnormality of the lymphatic system, Hepatitis, Skin ulcer, Weight lo...	ORPHA:47
Classic Mycosis Fungoides	Hepatomegaly, Splenomegaly, Erythema, Skin ulcer, Lymphadenopathy, Dry skin, Abnormal lymphocyte ...	ORPHA:2584
Prolidase Deficiency	Hepatomegaly, Petechiae, Splenomegaly, Skin ulcer, Anemia, Increased circulating antibody level, ...	OMIM:170100
Familial Benign Copper Deficiency	Decreased circulating copper concentration, Anemia	ORPHA:1551
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increased circulating ferritin concen...	OMIM:603552
Anemia, Congenital Dyserythropoietic, Type Iiia	Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemia	OMIM:105600
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Enlarged mesenteric lymph node, ...	OMIM:209950
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Normocytic anemia, Megaloblastic anemia	OMIM:236270
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Megaloblastic anemia	OMIM:250940
Somatostatinoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Abnormal abdomen...	ORPHA:97283
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Hepatomegaly, Abnormal blood inorganic cation concentration, Portal hypertension, Splenomegaly, M...	ORPHA:309854
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Short stature, Thrombocytopenia, Anemia	OMIM:616435
Kasabach-Merritt Syndrome	Reticulocytosis, Petechiae, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, H...	ORPHA:2330
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy	OMIM:183350
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Pallor	ORPHA:90036
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Failure to thrive, Exocrin...	OMIM:612714
Vitamin B12-Unresponsive Methylmalonic Acidemia	Thrombocytopenia, Leukopenia, Macrocytic anemia, Anemia	ORPHA:27
Congenital Disorder Of Glycosylation, Type Ii	Iron deficiency anemia, Decreased body weight, Hepatomegaly	OMIM:607906
Hemochromatosis, Type 1	Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Increased circulating fe...	OMIM:235200
Jervell And Lange-Nielsen Syndrome	Iron deficiency anemia	ORPHA:90647
Hemochromatosis, Neonatal	Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Increased ser...	OMIM:231100
Autosomal Dominant Hypophosphatemic Rickets	Iron deficiency anemia, Hypocalcemia, Hypophosphatemia	ORPHA:89937
Combined Oxidative Phosphorylation Deficiency 14	Increased hepatic glycogen content, Copper accumulation in liver, Elevated hepatic iron concentra...	OMIM:614946
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia...	OMIM:614470
Wolcott-Rallison Syndrome	Hyponatremia, Hepatomegaly, Decreased body weight, Jaundice, Hyperammonemia, Iron deficiency anem...	ORPHA:1667
Poems Syndrome	Lymphadenopathy, Weight loss, Increased circulating antibody level, Hypogonadism, Erectile dysfun...	ORPHA:2905
Chylomicron Retention Disease	Growth delay, Acanthocytosis	ORPHA:71
Sickle Cell Disease	Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Increased red cell sickling ten...	OMIM:603903
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Neutropenia, Microcytic anemia	OMIM:251900
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Hyperalaninemia, Fail...	OMIM:619046
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Amme Complex	Intrauterine growth retardation, Elliptocytosis	OMIM:300194
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Abnormal erythrocyte morphology, Folate-unresponsive megaloblastic anemia, Megaloblastic anemia	ORPHA:2575
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Pallor, Anemia	OMIM:246450
Monosomy 22	Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly	ORPHA:96123
Autoimmune Hemolytic Anemia, Warm Type	Splenomegaly, Autoimmune hemolytic anemia, Pallor, Chronic lymphatic leukemia	ORPHA:90033
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG...	ORPHA:3261
Deafness-Lymphedema-Leukemia Syndrome	Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde...	ORPHA:3226
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Weight loss, Iron deficiency anemia, Infertility, Hypocalcemia, Thrombocytosis...	OMIM:212750
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Short stature, Splenomegaly, Growth delay, Stomatocytosis	OMIM:608885
Birk-Aharoni Syndrome	Macrocytic anemia	OMIM:620071
Progeria-Short Stature-Pigmented Nevi Syndrome	T lymphocytopenia, Short stature, Delayed puberty, Microcytic anemia	ORPHA:2959
Immunodeficiency 96	Growth delay, Increased proportion of gamma-delta T cells, Increased mean corpuscular volume	OMIM:619774
Trichohepatoenteric Syndrome 1	Hepatomegaly, Small for gestational age, Increased mean platelet volume, Splenomegaly, Abnormalit...	OMIM:222470
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Acanthocytosis, Growth delay, Poikilocytosis, Intrauterine growth retardation,...	OMIM:618947
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia	OMIM:615085
Neonatal Hemochromatosis	Congenital hepatic fibrosis, Increased serum iron, Increased circulating ferritin concentration, ...	ORPHA:446
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Peritonitis, Elevated circulating cr...	ORPHA:90038
Idiopathic Aplastic Anemia	Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, Ecch...	ORPHA:88
Maternal Uniparental Disomy Of Chromosome 4	Abnormal erythrocyte morphology, Postnatal growth retardation, Short stature, Acanthocytosis	ORPHA:96180
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Pancytopenia, Postnatal growth retardation, Increased mean corpuscular volume,...	ORPHA:2169
Hereditary Cryohydrocytosis With Reduced Stomatin	Spontaneous hemolytic crises, Short stature, Postnatal growth retardation, Hepatosplenomegaly, St...	ORPHA:168577
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Pyoderma gangrenosum, Thrombocytopenia, Decreased circulating antibo...	OMIM:616576
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Anemia	ORPHA:371
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Gracile Syndrome	Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron, Cho...	OMIM:603358
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Abnormal circulating porphyrin con...	ORPHA:79277
Diamond-Blackfan Anemia 11	Short stature, Anemia of inadequate production, Neutropenia	OMIM:614900
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Failure to thrive, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta T...	OMIM:619824
Myelofibrosis	Splenomegaly, Pallor, Myeloproliferative disorder, Purpura	OMIM:254450
Fanconi Anemia, Complementation Group V	Anemia, Short stature, Thrombocytopenia, Neutropenia	OMIM:617243
Syndromic Diarrhea	Hepatomegaly, Small for gestational age, Increased mean platelet volume, Splenomegaly, Dry skin, ...	ORPHA:84064
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalb...	OMIM:226990
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Petechiae, Microcytic anemia, Thrombocytopenia,...	ORPHA:906
Short Stature With Microcephaly And Distinctive Facies	Severe short stature, Anisopoikilocytosis, Anemia	OMIM:615789
Transcobalamin Ii Deficiency	Hepatomegaly, Macrocytic anemia, Pancytopenia, Failure to thrive, Erythroid hypoplasia, Reticuloc...	OMIM:275350
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Pyoderma gangrenosum, Lympha...	OMIM:150550
Leukocyte Adhesion Deficiency Type Ii	Neutrophilia, Short stature, Microcytic anemia, Leukocytosis, Skin vesicle, Intrauterine growth r...	ORPHA:99843
Mcleod Syndrome	Splenomegaly, Acanthocytosis	OMIM:300842
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia, Abnormality of the menstrual cycle	ORPHA:721
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp...	ORPHA:331206
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly	OMIM:606445
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Orthostatic Hypotension 2	Anemia	OMIM:618182
Dohle Bodies And Leukemia	Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia	OMIM:223350
Pyridoxal Phosphate-Responsive Seizures	Pyridoxine-responsive sideroblastic anemia, Abnormal circulating glycine concentration, Abnormal ...	ORPHA:79096
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Failure to thrive, Elevated circulating C-reactive protein concentration, Reduced n...	OMIM:616050
Acquired Von Willebrand Syndrome	Normocytic anemia, Refractory anemia, Metrorrhagia, Menorrhagia, Hypochromic anemia	ORPHA:99147
Immunodeficiency 47	Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal...	OMIM:300972
Pearson Syndrome	Reticulocytosis, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Small for gestational age, Sple...	ORPHA:699
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Perianal erythema, Impaired T cell function, Splenomegaly, Dry skin, Decreased seru...	OMIM:201100
Abetalipoproteinemia	Reticulocytosis, Hepatomegaly, Decreased HDL cholesterol concentration, Cardiomegaly, Acanthocyto...	ORPHA:14
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Leukocytosis, Increased circulating IgE level, Increased circulating IgG level, Defective T cell ...	OMIM:618213
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Short stature, Pallor	ORPHA:2786
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Macrocytic anemia, Short stature, Granulocytopenia	OMIM:606164
Wolfram Syndrome 1	Growth delay, Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia	OMIM:222300
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym...	ORPHA:447
Hereditary Methemoglobinemia	Small for gestational age, Methemoglobinemia	ORPHA:621
Necrobiosis Lipoidica	Erythema, Skin ulcer, Abnormality of neutrophil physiology	ORPHA:542592
Neutrophilic Dermatosis, Acute Febrile	Erythema, Elevated circulating C-reactive protein concentration, Pyoderma gangrenosum, Anemia	OMIM:608068
H Syndrome	Short stature, Microcytic anemia, Hepatosplenomegaly, Delayed puberty, Histiocytosis	ORPHA:168569
8P11.2 Deletion Syndrome	Hemolytic anemia, Short stature, Splenomegaly, Spherocytosis, Growth delay	ORPHA:251066
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Decreased circulating 12-HETE, Iron deficiency anemia, Decreased serum thromboxane B2, Impaired p...	OMIM:618372
Diamond-Blackfan Anemia	Acute myeloid leukemia, Short stature, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytop...	ORPHA:124
Fumarase Deficiency	Intrahepatic cholestasis, Ascites, Pallor, Hyperbilirubinemia, Failure to thrive, Polycythemia	OMIM:606812
Takayasu Arteritis	Skin ulcer, Anemia, Weight loss	ORPHA:3287
Fanconi Anemia, Complementation Group E	Pancytopenia, Short stature, Anemic pallor, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thr...	OMIM:600901
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ...	OMIM:613011
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Failure to thrive in infancy, Cachexia, Autoimmune thrombocytopenia,...	ORPHA:37042
Oslam Syndrome	Anemia	OMIM:165660
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Increased mean corpuscular volume, Megaloblastic anemia	OMIM:277410
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Erythema, Reticulocytopenia, Pallor, Neutro...	OMIM:557000
Lesch-Nyhan Syndrome	Anemia	ORPHA:510
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Splenomegaly, Lymphadenopathy, Incr...	OMIM:618495
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Petechiae, Splenomegaly, Leukocytosis, Hepatosplenome...	OMIM:612840
Chilblain Lupus	Increased circulating antibody level, Skin ulcer, Chronic myelomonocytic leukemia	ORPHA:90280
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Petechiae, Anemia, Purpura	OMIM:620296
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Growth delay, Normochromic anemia, Thrombocytopenia, Neutropenia	OMIM:614857
Congenital Disorder Of Glycosylation, Type Iit	Decreased serum creatinine, Iron deficiency anemia, Decreased HDL cholesterol concentration, Hypo...	OMIM:618885
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss, Hemophagocytosis, Skin ulcer, Hepatosplenomegaly	ORPHA:86884
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia	OMIM:616738
Diamond-Blackfan Anemia 10	Macrocytic anemia, Short stature, Reticulocytopenia, Growth delay, Steroid-responsive anemia, Anemia	OMIM:613309
Optic Atrophy 1	Pallor	OMIM:165500
Diamond-Blackfan Anemia 7	Macrocytic anemia, Growth delay, Increased mean corpuscular volume, Neutropenia, Intrauterine gro...	OMIM:612562
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis	ORPHA:66661
Blue Rubber Bleb Nevus	Iron deficiency anemia, Abnormality of the liver, Thrombocytopenia	OMIM:112200
Hamamy Syndrome	Hypochromic anemia, Microcytic anemia	OMIM:611174
Fanconi Anemia, Complementation Group A	Pancytopenia, Short stature, Anemic pallor, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thr...	OMIM:227650
Free Sialic Acid Storage Disease	Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Skin ulcer, Ascites	ORPHA:834
Oculocerebral Hypopigmentation Syndrome, Preus Type	Abnormality of neutrophils, Hypochromic anemia	ORPHA:2720
Glycogen Storage Disease Xii	Normocytic anemia, Short stature, Splenomegaly, Normochromic anemia, Delayed puberty, Nonspherocy...	OMIM:611881
Dermatitis, Atopic	Dry skin, Pallor, Facial erythema	OMIM:603165
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia, Skin ulcer	ORPHA:217390
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Decreased serum iron, Anemia, Decreased circulating carnitine concentration, Decreased serum zinc...	ORPHA:89842
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Elliptocytosis	ORPHA:86818
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Sepsis In Premature Infants	Petechiae, Splenomegaly, Leukocytosis, Anemia, Pallor, Neutropenia, Thrombocytopenia, Purpura	ORPHA:90051
Lathosterolosis	Thrombocytopenia, Anisopoikilocytosis, Abnormal platelet morphology, Intrauterine growth retardation	ORPHA:46059
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Intrauterine growth retardation, Normochromic anemia, Thrombocytopenia	OMIM:618775
Osteopetrosis, Autosomal Recessive 9	Postnatal growth retardation, Anemia	OMIM:620366
Myopathy With Lactic Acidosis, Hereditary	Anemia, Sideroblastic anemia, Leukopenia	OMIM:255125
Diabetes Mellitus, Permanent Neonatal, 1	Intrauterine growth retardation, Elevated hemoglobin A1c	OMIM:606176
Fanconi Anemia, Complementation Group C	Pancytopenia, Short stature, Anemic pallor, Reticulocytopenia, Anemia, Neutropenia, Intrauterine ...	OMIM:227645
Wilson Disease	Hepatomegaly, Abnormality of the menstrual cycle, Splenomegaly, Jaundice, Hepatitis, Increased bo...	ORPHA:905
Diamond-Blackfan Anemia 1	Macrocytic anemia, Short stature, Congenital hypoplastic anemia, Reticulocytopenia, Persistence o...	OMIM:105650
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Elevated circulating C-reactive protein concentration, Weight loss, Iron deficiency anemia, Lymph...	OMIM:301074
Vexas Syndrome	Macrocytic anemia, Thrombocytopenia	OMIM:301054
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Ascites, Anemia	ORPHA:75233
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F, Short stature	OMIM:617101
Eisenmenger Syndrome	Hepatomegaly, Elevated circulating C-reactive protein concentration, Hypochromic microcytic anemi...	ORPHA:97214
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Maturity-Onset Diabetes Of The Young, Type 14	Elevated hemoglobin A1c	OMIM:616511
Lead Poisoning	Decreased HDL cholesterol concentration, Decreased female libido, Small for gestational age, Abno...	ORPHA:330015
Diabetes Mellitus, Permanent Neonatal, 4	Reduced C-peptide level, Small for gestational age, Elevated hemoglobin A1c	OMIM:618858
Waldenström Macroglobulinemia	Normocytic anemia, Abnormality of neutrophils, Splenomegaly, Pallor, Leukemia, Purpura	ORPHA:33226
Autoimmune Polyendocrine Syndrome, Type Ii	Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Exocrine panc...	OMIM:269200
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:618398
Hereditary Hemorrhagic Telangiectasia	Microcytic anemia	ORPHA:774
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Hydatidiform Mole	Anemia	ORPHA:99927
Kearns-Sayre Syndrome	Sideroblastic anemia, Short stature	OMIM:530000
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa...	OMIM:267700
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Short stature, Thrombocytopenia, Persisten...	OMIM:617052
Marburg Hemorrhagic Fever	Lymphopenia, Reticulocytosis, Petechiae, Elevated circulating creatine kinase concentration, Hype...	ORPHA:99826
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Mevalonic Aciduria	Normocytic hypoplastic anemia, Failure to thrive, Failure to thrive in infancy, Elevated circulat...	OMIM:610377
Lathosterolosis	Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hepatospleno...	OMIM:607330
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Polycythemia, Hepatic hemangioma, Pancreatic cysts	OMIM:193300
Liver Disease, Severe Congenital	Biliary hyperplasia, Hypocalcemia, Elevated hepatic iron concentration, Pancreatic hypoplasia, He...	OMIM:619991
Omenn Syndrome	Hepatomegaly, Failure to thrive, Eosinophilia, Splenomegaly, Leukocytosis, Dry skin, Lymphadenopa...	ORPHA:39041
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Portal hypertension, Elevated circulating C-reactive protein concentr...	OMIM:615688
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop...	OMIM:127550
Fanconi Anemia, Complementation Group I	Intrauterine growth retardation, Short stature, Pallor, Neutropenia	OMIM:609053
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Adenohypophysitis	Normochromic anemia, Pallor	ORPHA:95512
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating...	OMIM:256040
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hyponatremia, Macrocytic anemia, Premature ovarian insufficiency, Eosinophilia...	ORPHA:199299
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Absent pubertal gr...	OMIM:250250
Cholesteryl Ester Storage Disease	Hepatomegaly, Failure to thrive, Decreased HDL cholesterol concentration, Hypertriglyceridemia, B...	OMIM:278000
Purine Nucleoside Phosphorylase Deficiency	Increased circulating inosine concentration, Autoimmune hemolytic anemia, Failure to thrive, Hypo...	OMIM:613179
Trichohepatoenteric Syndrome 2	Hepatomegaly, Small for gestational age, Decreased serum iron, Chronic hepatitis, Cirrhosis, Fail...	OMIM:614602
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F, Overweight, Increased size of nasopharyngeal adenoids	OMIM:619769
Acquired Purpura Fulminans	Elevated circulating C-reactive protein concentration, Pyoderma gangrenosum, Thrombocytopenia, Ma...	ORPHA:49566
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Normochromic anemia, Chroni...	OMIM:615512
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Overweight, Failure to thrive, Decreased serum iron	ORPHA:391372
Optic Atrophy 7 With Or Without Auditory Neuropathy	Pallor	OMIM:612989
Neuroendocrine Tumor Of Stomach	Iron deficiency anemia, Weight loss, Chronic noninfectious lymphadenopathy, Hepatomegaly	ORPHA:100075
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Reduced natural killer cell activ...	OMIM:603553
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hepatomegaly, Microvesicular hepatic steatosis, Cirrhosis, Elevated hepatic iron concentration	OMIM:300868
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato...	OMIM:308230
Pgm3-Cdg	Hemolytic anemia, Failure to thrive, Abnormal proportion of CD8-positive T cells, Eosinophilia, I...	ORPHA:443811
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Hepatoportal Sclerosis	Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Splenomegaly, Port...	ORPHA:64743
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Petechiae, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenome...	OMIM:619463
Non-Functioning Pituitary Adenoma	Macroorchidism, postpubertal, Decreased female libido, Hypogonadotropic hypogonadism, Female hypo...	ORPHA:91349
Cryoglobulinemic Vasculitis	Viral hepatitis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Skin ulcer, Abnormality...	ORPHA:91138
Cyclic Vomiting Syndrome	Growth delay, Pallor	OMIM:500007
Gaisböck Syndrome	Hypertriglyceridemia, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentrati...	ORPHA:90041
Pyoderma Gangrenosum	Skin vesicle, Myeloid leukemia, Increased circulating antibody level, Skin ulcer	ORPHA:48104
Panhypophysitis	Normochromic anemia, Pallor	ORPHA:95513
Shwachman-Diamond Syndrome 2	Normocytic anemia, Short stature, Thrombocytopenia, Neutropenia	OMIM:617941
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Small for gestational age, Persistence of hem...	OMIM:260400
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Intrauterine growth retardation, HbH hemoglobin, Short stature	ORPHA:423479
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Small for gestational age, Megaloblastic anem...	OMIM:277380
3-Hydroxy-3-Methylglutaric Aciduria	Leukocytosis, Leukopenia, Pallor, Thrombocytosis, Anemia	ORPHA:20
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ...	OMIM:139090
Pituitary Apoplexy	Normochromic anemia, Pallor	ORPHA:95613
Autosomal Dominant Optic Atrophy, Classic Form	Macrocytic anemia	ORPHA:98673
Thymoma	Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Decreased circulating an...	ORPHA:99867
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Short stature, Elliptocytosis, Anemia	OMIM:300990
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopath...	ORPHA:379
Methylmalonic Acidemia With Homocystinuria Type Cblf	Growth delay, Intrauterine growth retardation, Neutropenia, Megaloblastic anemia	ORPHA:79284
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Bile duct polyp, Biliary tract abnormality, Iron deficiency anemia, Pre...	OMIM:175200
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Acute Radiation Syndrome	Skin ulcer, Scaling skin, Granulocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:454831
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pallor	ORPHA:276608
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Elevated hemoglobin A1c	OMIM:609812
Polyendocrine-Polyneuropathy Syndrome	Postnatal growth retardation, Short stature, Elevated hemoglobin A1c	OMIM:616113
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Thrombocytopenia, Reticulocytopenia, Dry skin, Leukopenia, B lymphocytopenia, Bone marrow hypocel...	ORPHA:508542
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Ogden Syndrome	Redundant neck skin, Redundant skin, Facial wrinkling, Cardiomegaly, Thrombocytopenia, Jaundice, ...	OMIM:300855
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pallor, Polycythemia	ORPHA:892
Pancreatic Triacylglycerol Lipase Deficiency	Iron deficiency anemia, Weight loss, Exocrine pancreatic insufficiency	ORPHA:309031
Catastrophic Antiphospholipid Syndrome	Coombs-positive hemolytic anemia, Skin ulcer, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:464343
Congenital Disorder Of Glycosylation, Type Iiw	Splenomegaly, Thrombocytopenia, Anemia, Microcytic anemia	OMIM:619525
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Short stature, Anemia, Leukopenia, Elliptocytosis, Thrombocytopenia	ORPHA:2785
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Leukopenia, Hepatomegaly, Abnormal circulating serine co...	ORPHA:470
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Splenomegaly, Lymphadenopathy, Anemia, Inc...	OMIM:617591
Pantothenate Kinase-Associated Neurodegeneration	Acanthocytosis	ORPHA:157850
Non-Epidermolytic Palmoplantar Keratoderma	Erythema, Skin ulcer	ORPHA:2337
Ileal Neuroendocrine Tumor	Iron deficiency anemia, Weight loss, Extrahepatic cholestasis, Lymphadenopathy	ORPHA:100078
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Leukocytosis, Peritonitis, Recurrent tonsillitis, Pyoderma gangrenosum, V...	ORPHA:2968
Beta-Ketothiolase Deficiency	Thrombocytosis, Leukocytosis, Pallor	ORPHA:134
Beckwith-Wiedemann Syndrome	Hepatomegaly, Redundant skin, Elevated circulating alpha-fetoprotein concentration, Cardiomegaly,...	ORPHA:116
Nephronophthisis 4	Growth delay, Anemia	OMIM:606966
Glucagonoma	Necrolytic migratory erythema, Normochromic anemia, Acanthocytosis	ORPHA:97280
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Pyoderma gangrenosum, Acute lymphoblastic ...	ORPHA:486
Pulmonary Arteriovenous Malformation	Iron deficiency anemia, Liver abscess	ORPHA:2038
Spontaneous Periodic Hypothermia	Pallor	ORPHA:29822
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612924
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal reticulocyte morphology	ORPHA:2522
American Trypanosomiasis	Splenomegaly, Pallor	ORPHA:3386
Dermatofibrosarcoma Protuberans	Erythema, Skin ulcer	ORPHA:31112
Sheehan Syndrome	Normochromic anemia, Dry skin, Pallor	ORPHA:91355
Chromosome 15Q25 Deletion Syndrome	Macrocytic anemia, Short stature, Growth delay, Polysplenia, Intrauterine growth retardation	OMIM:614294
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Acute Adrenal Insufficiency	Normocytic anemia, Hyponatremia, Decreased female libido, Hypercalcemia, Hyperkalemia, Dry skin, ...	ORPHA:95409
Addison Disease	Normocytic anemia, Hyponatremia, Premature ovarian insufficiency, Primary testicular failure, Dec...	ORPHA:85138
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Hypophosphatemia, Failure to thrive, Anemia	OMIM:239200
Lesch-Nyhan Syndrome	Short stature, Megaloblastic anemia	OMIM:300322
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Wilson Disease	Hemolytic anemia, Hepatomegaly, Decreased circulating ceruloplasmin concentration, Hypouricemia, ...	OMIM:277900
Fanconi Anemia, Complementation Group D2	Pancytopenia, Short stature, Anemic pallor, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thr...	OMIM:227646
Congenital Heart Block	Intrauterine growth retardation, Pallor	ORPHA:60041
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:266120
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Normochromic anemia, Thrombocytopenia	OMIM:254900
Hyperinsulinism Due To Ucp2 Deficiency	Pallor	ORPHA:276556
Immunodeficiency 55	Absent natural killer cells, Short stature, Postnatal growth retardation, Dry skin, Neutropenia, ...	OMIM:617827
Sweet Syndrome	Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk...	ORPHA:3243
Proliferating Trichilemmal Cyst	Skin ulcer	ORPHA:492
Congenital Factor Xii Deficiency	Penetrating foot ulcers	ORPHA:330
Toxic Epidermal Necrolysis	Erythema, Skin ulcer, Weight loss, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia	ORPHA:537
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Pallor	ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Pallor	ORPHA:276580
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Acral ulceration, Skin ulcer	ORPHA:139578
Hyperinsulinism Due To Hnf1A Deficiency	Pallor	ORPHA:324575
Common Variable Immunodeficiency	Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombocytopenia, Splenomegaly, Decrea...	ORPHA:1572
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection	Pyoderma gangrenosum	OMIM:619986
Dyskeratosis Congenita	Neoplasm of the pancreas, Hepatomegaly, Abnormality of neutrophils, Thrombocytopenia, Splenomegal...	ORPHA:1775
Chilblain Lupus 1	Skin ulcer	OMIM:610448
Dyskeratosis Congenita, Autosomal Recessive 5	Postnatal growth retardation, Leukopenia, Intrauterine growth retardation	OMIM:615190
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Erythema, Lymphadenopathy	OMIM:619183
Autosomal Recessive Malignant Osteopetrosis	Growth delay, Splenomegaly, Pallor, Anemia	ORPHA:667
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
Multiple Myeloma	Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con...	ORPHA:29073
Degcags Syndrome	Hepatomegaly, Pancytopenia, Small for gestational age, Congenital hypoplastic anemia, Cryptorchid...	OMIM:619488
Prolidase Deficiency	Hepatomegaly, Splenomegaly, Erythema, Skin ulcer, Dry skin	ORPHA:742
Dravet Syndrome	Pallor	ORPHA:33069
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Mye...	ORPHA:3260
Polyarteritis Nodosa	Erythema, Skin ulcer, Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:767
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Cholestasis, Hepatosplenomegaly, Decreased serum zinc, Hepatic fibrosis, Hepatic steatosis, Derma...	ORPHA:541423
Autosomal Dominant Hyper-Ige Syndrome	Skin vesicle, Increased circulating IgE level, Eosinophilia, Skin ulcer	ORPHA:2314
Dracunculiasis	Skin ulcer	ORPHA:231
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Cachexia, Abnormality of the spleen, Splenomegaly, Skin ulcer, Hepatosplenomegaly, ...	ORPHA:2072
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Intrauterine growth retardation, Short stature, Megaloblastic anemia	ORPHA:79351
Aplasia Cutis Congenita	Skin ulcer	ORPHA:1114
Vipoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Abnormal abdomen...	ORPHA:97282
Gitelman Syndrome	Neoplasm of the pancreas, Hypermagnesemia, Iron deficiency anemia, Hypokalemia, Hypocalcemia, Hyp...	ORPHA:358
Idiopathic Copper-Associated Cirrhosis	Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre...	ORPHA:209919
Buerger Disease	Skin ulcer	ORPHA:36258
Non-Functioning Paraganglioma	Pallor	ORPHA:94080
Neurodegeneration With Brain Iron Accumulation 1	Acanthocytosis	OMIM:234200
Acrogeria	Excessive wrinkled skin, Skin ulcer	ORPHA:2500
Incontinentia Pigmenti	Short stature, Eosinophilia, Leukocytosis, Erythema, Pallor	OMIM:308300
Autoimmune Polyendocrinopathy Type 4	Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopenia, Biliary cirrhosis...	ORPHA:227990
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Iron deficiency anemia	ORPHA:93315
Juvenile Hyaline Fibromatosis	Skin ulcer	ORPHA:2028
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Short stature, Abnormal hemoglobin, Anemia	ORPHA:847
Papa Syndrome	Increased circulating antibody level, Skin ulcer, Lymphadenopathy	ORPHA:69126
Leukocyte Adhesion Deficiency, Type I	Leukocytosis, Skin ulcer, Elevated circulating C-reactive protein concentration	OMIM:116920
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Hepatoblastoma, Iron deficiency anemia	ORPHA:261584
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	Skin ulcer, Cachexia	ORPHA:2047
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Leukocytosis, Pallor, Thrombocytopenia	ORPHA:544482
Primary Sjögren Syndrome	Normocytic anemia, Chronic active hepatitis, Biliary cirrhosis, Skin ulcer, Decreased circulating...	ORPHA:289390
Kcnq2-Related Epileptic Encephalopathy	Pallor, Facial erythema	ORPHA:439218
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopenia, Biliary cirrhosis...	ORPHA:227982
Autosomal Dominant Epidermolytic Ichthyosis	Skin ulcer, Weight loss	ORPHA:312
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Hy...	OMIM:242150
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Abnormal circulating selenium concentration, Iron deficiency anemia, Decreased serum zinc, Decrea...	ORPHA:79408
Cushing Disease	Purpura, Leukocytosis, Increased body weight, Secondary amenorrhea, Skin ulcer, Truncal obesity, ...	ORPHA:96253
Aplasia Cutis-Myopia Syndrome	Skin ulcer	ORPHA:1117
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Cystathioni...	OMIM:277400
Hyperkeratosis Lenticularis Perstans	Skin ulcer	ORPHA:409
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr...	ORPHA:49041
Myopathy, Mitochondrial, And Ataxia	Growth delay, Short stature, Pallor	OMIM:617675
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Small for gestational age, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Hyp...	OMIM:617093
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Werner Syndrome	Decreased fertility, Secondary amenorrhea, Lack of skin elasticity, Skin ulcer, Hypogonadism, Apl...	ORPHA:902
Limited Cutaneous Systemic Sclerosis	Skin ulcer	ORPHA:220402
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Skin ulcer, Purpura	ORPHA:743
Rheumatic Fever	Erythema, Pallor	ORPHA:3099
Infantile Myofibromatosis	Neoplasm of the pancreas, Hypercalcemia, Skin ulcer	ORPHA:2591
Granulomatosis With Polyangiitis	Granulomatosis, Skin ulcer, Weight loss	OMIM:608710
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Pallor	ORPHA:263455
Hereditary Sensory And Autonomic Neuropathy Type 1	Penetrating foot ulcers, Skin ulcer	ORPHA:36386
Telangiectasia, Hereditary Hemorrhagic, Type 2	Cirrhosis, Hepatic arteriovenous malformation, Polycythemia, Anemia	OMIM:600376
Blau Syndrome	Splenomegaly, Erythema, Skin ulcer, Lymphadenopathy, Abnormality of the liver, Dry skin, Anemia	ORPHA:90340
Autosomal Dominant Kenny-Caffey Syndrome	Short stature, Postnatal growth retardation, Growth delay, Intrauterine growth retardation, Anemia	ORPHA:93325
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Fusariosis	Abnormality of the spleen, Peritonitis, Skin ulcer, Abnormality of the liver, Neutropenia, Lympho...	ORPHA:228119
Mednik Syndrome	Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Decreased circulatin...	ORPHA:171851
Goodpasture Syndrome	Pallor, Anemia	OMIM:233450
Tay-Sachs Disease	Pallor	OMIM:272800
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Skin ulcer, Lymphadenopathy	ORPHA:424019
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Megaloblastic anemia, Growth delay, Neutropenia, Intrauterine growth retardation, Thrombocytopenia	ORPHA:79282
Choreoacanthocytosis	Abnormal erythrocyte enzyme level, Splenomegaly, Acanthocytosis	ORPHA:2388
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
Simple Cryoglobulinemia	Viral hepatitis, Purpura, Monoclonal elevation of circulating IgA, Monoclonal elevation of IgG, P...	ORPHA:91139
Telangiectasia, Hereditary Hemorrhagic, Type 1	Cirrhosis, Hepatic arteriovenous malformation, Polycythemia, Anemia	OMIM:187300
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Hypoammonemia, Cryptorchidism, Thrombocytopenia, Skin ulcer, Azoospermia, Hypokalem...	ORPHA:534
Lichen Planopilaris	Hepatitis, Skin ulcer	ORPHA:525
Amoebiasis Due To Free-Living Amoebae	Increased red blood cell count, Skin ulcer	ORPHA:68
Calciphylaxis	Hyperphosphatemia, Skin ulcer	ORPHA:280062
Reynolds Syndrome	Hepatomegaly, Jaundice, Skin ulcer, Cirrhosis, Ascites	ORPHA:779
Senior-Loken Syndrome 8	Pallor	OMIM:616307
Acrodermatitis Enteropathica	Failure to thrive, Erythema, Skin ulcer, Weight loss, Dry skin	ORPHA:37
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly, Increased serum zinc	OMIM:601979
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Abnormal circulating creatine kinase concentration, Abnormal circulating copper concentration	ORPHA:521411
Fructose-1,6-Bisphosphatase Deficiency	Pallor	ORPHA:348
Granulomatosis With Polyangiitis	Elevated circulating C-reactive protein concentration, Skin ulcer, Weight loss, Granulomatosis, P...	ORPHA:900
Cushing Syndrome Due To Ectopic Acth Secretion	Pancreatic adenocarcinoma, Purpura, Pancreatoblastoma, Neoplasm of the thymus, Leukocytosis, Incr...	ORPHA:99889
Juvenile Dermatomyositis	Calcinosis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive p...	ORPHA:93672
Chronic Mucocutaneous Candidiasis	Dyspareunia, Erythema, Hepatitis, Skin ulcer	ORPHA:1334
Brooke-Spiegler Syndrome	Skin ulcer	ORPHA:79493
Sporadic Pheochromocytoma/Secreting Paraganglioma	Pallor	ORPHA:276621
Bare Lymphocyte Syndrome, Type I	Skin ulcer	OMIM:604571
Neurodegeneration And Seizures Due To Copper Transport Defect	Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper concentration, Card...	OMIM:620306
Infantile Systemic Hyalinosis	Failure to thrive, Aplasia/Hypoplasia of the thymus, Skin ulcer	ORPHA:2176
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Decreased serum iron, Cryptorchidism, Anemia	ORPHA:438213
Adult Polyglucosan Body Disease	Skin ulcer	ORPHA:206583
Dermatoosteolysis, Kirghizian Type	Skin ulcer	ORPHA:1657
Slc39A8-Cdg	Hypomanganesemia, Abnormality of the liver, Failure to thrive in infancy, Abnormal blood zinc con...	ORPHA:468699
Prolactinoma	Pallor, Delayed puberty	ORPHA:2965
Giant Cell Arteritis	Mediastinal lymphadenopathy, Skin ulcer, Weight loss	ORPHA:397
Familial Multiple Nevi Flammei	Skin ulcer	ORPHA:624
Diffuse Cutaneous Systemic Sclerosis	Dyspareunia, Skin ulcer	ORPHA:220393
Incontinentia Pigmenti	Erythema, Eosinophilia, Skin ulcer	ORPHA:464
Dermatomyositis	Abnormal eosinophil morphology, Erythema, Skin ulcer, Weight loss, Dry skin	ORPHA:221
Hajdu-Cheney Syndrome	Hepatomegaly, Splenomegaly, Skin ulcer, Dry skin, Failure to thrive	ORPHA:955
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome	Skin ulcer	ORPHA:2218
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Skin ulcer	OMIM:613640
Microscopic Polyangiitis	Peritonitis, Erythema, Pancreatitis, Skin ulcer	ORPHA:727
Hereditary Pheochromocytoma-Paraganglioma	Pallor	ORPHA:29072
Meige Disease	Lymph node hypoplasia, Skin ulcer, Absence of lymph node germinal center	ORPHA:90186
Zinc Deficiency, Transient Neonatal	Decreased serum zinc	OMIM:608118
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Short stature, Thrombocytopenia, Growth delay, Leukop...	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
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr...	ORPHA:91500
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Leukemia, Dry skin, Scaling skin, Skin ulcer	ORPHA:2526
Attenuated Chédiak-Higashi Syndrome	Skin ulcer	ORPHA:352723
Chime Syndrome	Erythema, Skin ulcer, Acute leukemia	ORPHA:3474
Alternating Hemiplegia Of Childhood	Pallor	ORPHA:2131
Esophageal Atresia	Growth delay, Pallor	ORPHA:1199
Malakoplakia	Orchitis, Skin ulcer, Abnormality of the menstrual cycle, Follicular hyperplasia	ORPHA:556
Chronic Graft Versus Host Disease	Pancytopenia, Erythema, Skin ulcer, Weight loss, Skin vesicle, Ascites	ORPHA:99921
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Acral ulceration	OMIM:162400
Ectodermal Dysplasia-Blindness Syndrome	Skin ulcer	ORPHA:1806
Atypical Werner Syndrome	Failure to thrive, Premature ovarian insufficiency, Hypertriglyceridemia, Decreased fertility, Se...	ORPHA:79474
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Hypotriglyceridemia, Decreased circulating apolipoprotein B concentration, Acral ulceration	OMIM:256840
Tsh-Secreting Pituitary Adenoma	Pallor, Delayed puberty	ORPHA:91347
Histiocytoid Cardiomyopathy	Pallor	ORPHA:137675
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Skin ulcer, Anemia, Neutropenia	ORPHA:95455
Plague	Hepatomegaly, Splenomegaly, Lymphadenitis, Skin ulcer, Enlarged mesenteric lymph node, Dry skin	ORPHA:707
Leprosy	Abnormality of the spleen, Testicular mass, Penetrating foot ulcers, Abnormality of the liver, Ac...	ORPHA:548
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Hepatomegaly, Failure to thrive, Hepatocellular carcinoma, Microvesicular hepatic steatosis, Micr...	OMIM:256810
Parkes Weber Syndrome	Scaling skin, Abnormal B-type natriuretic peptide concentration, Skin ulcer, Abnormal lymphatic v...	ORPHA:90307
Adult Syndrome	Dry skin, Skin ulcer	ORPHA:978
Familial Keratoacanthoma	Skin ulcer	ORPHA:493
Immunoglobulin A Vasculitis	Orchitis, Erythema, Skin ulcer, Purpura	ORPHA:761
Multiple Endocrine Neoplasia Type 2	Pallor	ORPHA:653
Systemic Sclerosis	Acral ulceration, Elevated circulating creatine kinase concentration, Digital ulcer	ORPHA:90291
Hereditary Acrokeratotic Poikiloderma	Erythema, Skin ulcer	ORPHA:2907
Occipital Horn Syndrome	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Re...	OMIM:304150
Wrinkly Skin Syndrome	Cryptorchidism, Excessive skin wrinkling on dorsum of hands and fingers, Cutis laxa, Excessive wr...	ORPHA:2834
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Acral ulceration	OMIM:201300
Acute Transverse Myelitis	Decreased circulating copper concentration, Priapism, Abnormal libido	ORPHA:139417
Neuropathy, Hereditary Sensory And Autonomic, Type V	Acral ulceration	OMIM:608654
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Pallor	OMIM:253280
Charcot-Marie-Tooth Disease Type 4B2	Penetrating foot ulcers	ORPHA:99956
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Skin ulcer, Lymphadenopathy	ORPHA:424016
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Skin ulcer	OMIM:245660
Insensitivity To Pain, Congenital, With Anhidrosis	Acral ulceration	OMIM:256800
Blau Syndrome	Skin ulcer	OMIM:186580
Congenital Total Pulmonary Venous Return Anomaly	Pallor	ORPHA:99125
Split Cord Malformation	Penetrating foot ulcers	ORPHA:573278

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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