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Gene: Dmtn MGI:99670

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

dematin actin binding protein

Synonyms:

Epb4.9, dematin

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 Dmtn 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 Dmtn (0 diseases)
Human diseases predicted to be associated with Dmtn (363 diseases)

No human diseases associated to this gene by orthology or annotation.

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

Disease	Matching phenotypes	Source
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
Transient Erythroblastopenia Of Childhood	Anemia, Transient erythroblastopenia	OMIM:227050
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Spherocytosis, Type 2	Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia	OMIM:616649
Spherocytosis, Type 4	Hemolytic anemia, Spherocytosis, Splenomegaly, Reticulocytosis	OMIM:612653
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis	OMIM:603529
Pyropoikilocytosis, Hereditary	Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis	OMIM:266140
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Hemolytic anemia, Reticulocytosis	OMIM:230450
Anemia, Sideroblastic, 4	Sideroblastic anemia, Abnormal erythrocyte morphology	OMIM:182170
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Cyanosis, Transient Neonatal	Anemia, Methemoglobinemia, Reticulocytosis	OMIM:613977
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Spherocytosis, Type 1	Hemolytic anemia, Spherocytosis, Splenomegaly, Reticulocytosis	OMIM:182900
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis	OMIM:237800
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ...	OMIM:301083
Diamond-Blackfan Anemia 13	Normocytic anemia, Elevated red cell adenosine deaminase activity	OMIM:615909
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin	ORPHA:231249
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol...	ORPHA:766
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Cryohydrocytosis	Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:185020
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology	OMIM:300622
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy...	ORPHA:67044
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis	OMIM:179700
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis	OMIM:206200
Rh-Null, Amorph Type	Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis	OMIM:617970
Anemia, Congenital Dyserythropoietic, Type Ii	Splenomegaly, Anemia of inadequate production, Reticulocytosis	OMIM:224100
Elliptocytosis 2	Hemolytic anemia, Reticulocytosis, Elliptocytosis	OMIM:130600
Familial Pseudohyperkalemia	Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia	ORPHA:90044
Heinz Body Anemias	Heinz bodies, Nonspherocytic hemolytic anemia, Heinz body anemia	OMIM:140700
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia	OMIM:205950
Glutamate-Cysteine Ligase Deficiency	Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis	ORPHA:33574
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia	Anemia	ORPHA:2802
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia, Reduced erythrocyte adenylate kinase activity	OMIM:612631
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function	ORPHA:231393
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
Rh Deficiency Syndrome	Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytos...	ORPHA:71275
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Ell...	OMIM:300835
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Chromosome 5Q Deletion Syndrome	Erythroid hypoplasia, Refractory macrocytic anemia, Anemia of inadequate production	OMIM:153550
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Anemia of inadequate production, Elliptocytosis	OMIM:166910
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke...	OMIM:619041
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:610629
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Nephronophthisis	Anemia	ORPHA:655
Elliptocytosis 3	Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis	OMIM:617948
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis	OMIM:619398
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Splenomegaly, Reticulocytosis, Nonspherocytic hemolytic anemia, Reduced erythr...	OMIM:235700
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate...	OMIM:224120
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Isobutyryl-Coa Dehydrogenase Deficiency	Anemia	OMIM:611283
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis	OMIM:300367
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Erythrocytosis, Familial, 3	Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass	OMIM:609820
Reticuloendotheliosis, X-Linked	Anemia, Hepatosplenomegaly	OMIM:312500
Erythrocytosis, Familial, 5	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617907
Hereditary Spherocytosis	Spontaneous hemolytic crises, Increased mean corpuscular hemoglobin concentration, Extramedullary...	ORPHA:822
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Spastic Paraplegia And Evans Syndrome	Autoimmune thrombocytopenia, Coombs-positive hemolytic anemia	OMIM:601608
Dehydrated Hereditary Stomatocytosis	Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemoglobin concentrat...	ORPHA:3202
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Glutathione Peroxidase Deficiency	Compensated hemolytic anemia, Heinz bodies	OMIM:614164
Erythrocytosis, Familial, 7	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617981
Erythrocytosis, Familial, 6	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617980
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Erythrocytosis, Familial, 4	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:611783
Intrinsic Factor Deficiency	Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Inc...	OMIM:261000
Hemoglobin H Disease	Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin	OMIM:613978
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hemolytic anemia	OMIM:185000
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre...	OMIM:603902
Congenital Atransferrinemia	Anemia	ORPHA:1195
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis	OMIM:266120
Phosphoglycerate Kinase 1 Deficiency	Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis	OMIM:300653
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato...	OMIM:613673
Diamond-Blackfan Anemia 12	Reticulocytopenia, Normochromic anemia, Macrocytic anemia, Elevated red cell adenosine deaminase ...	OMIM:615550
Diamond-Blackfan Anemia 16	Anemia	OMIM:617408
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain	Compensated hemolytic anemia	OMIM:142309
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane	Nonspherocytic hemolytic anemia	OMIM:206300
Hemolytic Anemia With Thermal Sensitivity Of Red Cells	Congenital hemolytic anemia	OMIM:235370
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
Anemia, Hypochromic Microcytic, With Iron Overload 2	Sideroblastic anemia, Splenomegaly, Hypochromia, Poikilocytosis, Anemia, Decreased mean corpuscul...	OMIM:615234
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Eosinophilia, Familial	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	OMIM:131400
Diamond-Blackfan Anemia 9	Anemia	OMIM:613308
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Acute Erythroid Leukemia	Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E...	ORPHA:318
Alpha-Thalassemia	Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen...	ORPHA:846
Rh-Null, Regulator Type	Stomatocytosis, Hemolytic anemia	OMIM:268150
Bone Marrow Failure Syndrome 2	Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia	OMIM:615715
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia	OMIM:133180
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume	OMIM:620044
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Anemia, Granulocytopenia	OMIM:608898
Elliptocytosis 1	Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Diamond-Blackfan Anemia 8	Neutropenia, Increased mean corpuscular volume, Macrocytic anemia	OMIM:612563
Osteopetrosis, Autosomal Recessive 4	Anemia, Splenomegaly, Thrombocytopenia, Reticulocytosis	OMIM:611490
Thrombotic Thrombocytopenic Purpura	Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia	ORPHA:54057
Pyruvate Kinase Deficiency Of Red Cells	Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Dec...	OMIM:266200
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ...	OMIM:187800
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Impaired T cell function, Anisocytosis, Hypochromia, Po...	OMIM:258900
Megaloblastic Anemia, Folate-Responsive	Folate-responsive megaloblastic anemia, Episodic hemolytic anemia, Schistocytosis, Hypersegmentat...	OMIM:601775
Glutathione Synthetase Deficiency	Hemolytic anemia	ORPHA:32
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Harderoporphyria	Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:618892
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib...	OMIM:202700
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro...	ORPHA:35858
Anemia, Hypochromic Microcytic, With Iron Overload 1	Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia	OMIM:206100
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia	OMIM:612527
Protoporphyria, Erythropoietic, 2	Iron deficiency anemia	OMIM:618015
Congenital Dyserythropoietic Anemia Type Iii	Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytosis, Poikilocytosis,...	ORPHA:98870
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hepatosplenomegaly, Decreased mean corpuscular volume, Hemolytic anemia, Reticulocytosis	OMIM:611590
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Anemia	OMIM:618313
Hydrops Fetalis, Nonimmune	Anemia	OMIM:236750
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anemia, Thrombocytopenia, Neutropenia, Monocytosis	OMIM:620534
Sitosterolemia 1	Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb...	OMIM:210250
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase activity	OMIM:618660
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis	ORPHA:713
Bleeding Disorder, Platelet-Type, 19	Anemia, Macrothrombocytopenia, Thrombocytopenia	OMIM:616176
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Hepatosplenomegaly	OMIM:273680
Hereditary Elliptocytosis	Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Reticulocytosis, Sp...	ORPHA:288
Anemia, Sideroblastic, 1	Sideroblastic anemia, Hypochromic microcytic anemia, Anemia of inadequate production, Macrocytic ...	OMIM:300751
Refractory Anemia	Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi...	ORPHA:98826
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp...	OMIM:618849
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Increased mean corpuscular hemoglobin concentration, Splenomegaly, Increased red cell hemolysis b...	OMIM:194380
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane...	OMIM:300946
Trimethylaminuria	Anemia, Splenomegaly, Neutropenia	OMIM:602079
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Megaloblastic anemia	OMIM:243320
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic dyserythropoietic anemia, Macrocytic anemia	OMIM:619789
Acute Myelomonocytic Leukemia	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	ORPHA:517
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration	Acanthocytosis	OMIM:607236
Asplenia, Isolated Congenital	Howell-Jolly bodies, Asplenia, Thrombocytosis	OMIM:271400
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Diamond-Blackfan Anemia 5	Erythroid hypoplasia, Leukopenia, Reticulocytopenia, Macrocytic anemia	OMIM:612528
Oslam Syndrome	Abnormality of neutrophils, Increased mean corpuscular volume	ORPHA:2760
Sickle Cell Anemia	Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo...	ORPHA:232
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Thr...	OMIM:615285
Retinitis Pigmentosa And Erythrocytic Microcytosis	Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ...	OMIM:616959
Glycogen Storage Disease Vii	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Reticulocytosis	OMIM:232800
Fetal Parvovirus Syndrome	Anemia, Thrombocytopenia	ORPHA:295
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm...	ORPHA:824
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Fanconi Anemia, Complementation Group G	Leukemia, Anemia, Neutropenia, Thrombocytopenia	OMIM:614082
Amegakaryocytic Thrombocytopenia, Congenital, 2	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia	OMIM:620481
Abetalipoproteinemia	Acanthocytosis	OMIM:200100
8P11.2 Deletion Syndrome	Hemolytic anemia, Spherocytosis, Splenomegaly	ORPHA:251066
Pernicious Anemia	Megaloblastic anemia	OMIM:170900
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate...	OMIM:153670
Immunodeficiency 69	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A...	OMIM:618963
Atransferrinemia	Hypochromic anemia	OMIM:209300
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:231900
Thrombotic Thrombocytopenic Purpura, Hereditary	Schistocytosis, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia	OMIM:274150
3-Methylglutaconic Aciduria, Type Viia	Anemia, Neutropenia, Anisopoikilocytosis	OMIM:619835
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Hepatosplenomegaly, Reticulocytopenia, Dysplastic erythropoesis, Anisopoikilocytosis, Anemia, Dec...	ORPHA:300298
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Cernunnos-Xlf Deficiency	Lymphopenia, Decreased circulating antibody level, Thrombocytopenia, B lymphocytopenia, Anemia, T...	ORPHA:169079
Immunodeficiency 46	Anemia, Decreased circulating antibody level, Neutropenia, Intermittent thrombocytopenia	OMIM:616740
Orthostatic Hypotension 2	Anemia	OMIM:618182
Idiopathic Aplastic Anemia	Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia	ORPHA:88
Dohle Bodies And Leukemia	Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies	OMIM:223350
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Schistocytosis, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia	OMIM:235400
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Monocytosis, Refractory anemia	OMIM:616871
Fanconi Anemia, Complementation Group T	Bone marrow hypocellularity, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia	OMIM:616435
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor...	ORPHA:86841
Formiminoglutamic Aciduria	Anemia, Megaloblastic anemia	ORPHA:51208
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Anemia	ORPHA:371
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Anisocytos...	OMIM:301310
Malaria	Anemia, Thrombocytopenia	ORPHA:673
Ichthyosis, Congenital, Autosomal Recessive 5	Acanthocytosis	OMIM:604777
Rosaï-Dorfman Disease	Anemia, Dysgammaglobulinemia	ORPHA:158014
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Anemia	OMIM:618728
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a...	OMIM:159550
Immunodeficiency 96	Decreased circulating IgG level, Increased proportion of gamma-delta T cells, Increased mean corp...	OMIM:619774
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Breath-Holding Spells	Iron deficiency anemia	OMIM:607578
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Anemia, Decreased circulating antibody...	OMIM:618116
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Anemia	OMIM:614514
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:617243
Developmental And Epileptic Encephalopathy 50	Anemia, Acanthocytosis, Schistocytosis, Anisopoikilocytosis	OMIM:616457
Erythrocytosis, Familial, 2	Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass	OMIM:263400
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume	ORPHA:494444
Oslam Syndrome	Anemia	OMIM:165660
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosi...	OMIM:618278
Mu-Heavy Chain Disease	Anemia, Abnormal B cell count, Splenomegaly, Increased circulating antibody level	ORPHA:100024
Tempi Syndrome	Increased hematocrit, Polycythemia, Increased circulating IgG level	ORPHA:284227
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:613839
Lesch-Nyhan Syndrome	Anemia	ORPHA:510
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly	ORPHA:75563
Stormorken-Sjaastad-Langslet Syndrome	Anemia, Asplenia	ORPHA:3204
Hemolytic Anemia, Congenital, X-Linked	Hemolytic anemia	OMIM:301015
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ...	OMIM:617021
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Lymphopenia, Leukopenia, Neutropenia, Schistocytosis, Anemia, Thrombocytopenia, Hemolytic anemia	OMIM:301110
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells	OMIM:607616
Kasabach-Merritt Phenomenon	Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Neutropenia, Thrombocytopenia, An...	ORPHA:2330
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hypochromia, Anemia, Decre...	OMIM:616860
Alpha-Heavy Chain Disease	Anemia, Dysgammaglobulinemia, Splenomegaly	ORPHA:100025
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Abnormal natural killer cell physiology, Thro...	OMIM:613101
Thrombocythemia 1	Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce...	OMIM:187950
Sickle Cell Disease	Splenic infarction, Increased red cell sickling tendency, Leukocytosis, Splenomegaly, Target cell...	OMIM:603903
Hemangioma-Thrombocytopenia Syndrome	Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:141000
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F	OMIM:612561
Senior-Loken Syndrome 4	Anemia	OMIM:606996
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia	OMIM:603552
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia	OMIM:616738
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocyto...	OMIM:616084
Choreoacanthocytosis	Acanthocytosis	OMIM:200150
Ghosal Hematodiaphyseal Dysplasia	Bone marrow hypocellularity, Leukopenia, Refractory anemia, Thrombocytopenia	OMIM:231095
Hypobetalipoproteinemia, Familial, 1	Acanthocytosis	OMIM:615558
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Intermediate Generalized Junctional Epidermolysis Bullosa	Anemia	ORPHA:79402
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i...	OMIM:617780
Vitamin B12-Responsive Methylmalonic Acidemia	Anemia	ORPHA:28
Hydatidiform Mole	Anemia	ORPHA:99927
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hemolytic anemia	OMIM:609153
Reticular Dysgenesis	Anemia, Leukopenia, Decreased circulating antibody level, Abnormality of neutrophils	ORPHA:33355
Osteopetrosis, Autosomal Recessive 8	Anemia, Splenomegaly, Thrombocytopenia	OMIM:615085
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Anemia	ORPHA:2668
Transcobalamin Ii Deficiency	Decreased circulating IgG level, Pancytopenia, Decreased circulating IgA level, Macrocytic anemia...	OMIM:275350
Amed Syndrome, Digenic	Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia	OMIM:619151
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Leukocytosis, Reticulocytosis, Schistocytosis, Thrombocytopenia	ORPHA:90038
Immunodeficiency 27A	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytosis, Anemia, Increased circulating IgG...	OMIM:209950
Copper Deficiency, Familial Benign	Anemia	OMIM:121270
Hb Bart'S Hydrops Fetalis	Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia	OMIM:620367
Nephronophthisis 9	Anemia	OMIM:613824
Aregenerative Anemia	Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A...	ORPHA:101096
Hemochromatosis, Type 2B	Anemia, Splenomegaly	OMIM:613313
Immunodeficiency 102	Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p...	OMIM:301082
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive...	ORPHA:3261
Chylomicron Retention Disease	Acanthocytosis	ORPHA:71
Immunodeficiency 32B	Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Eosinophilia, Monocytopen...	OMIM:226990
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Anemia	OMIM:613092
Bone Marrow Failure Syndrome 5	Erythroid hypoplasia, Pure red cell aplasia, Anemia, Decreased circulating antibody level	OMIM:618165
Beta-Thalassemia Major	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega...	ORPHA:231214
Beta-Thalassemia	Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia	ORPHA:848
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Megaloblastic anemia, Increased mean corpuscular volume	OMIM:277410
Schnitzler Syndrome	Anemia, Increased circulating IgM level, Leukocytosis, Splenomegaly	ORPHA:37748
Osteopetrosis, Autosomal Dominant 3	Anemia, Splenomegaly	OMIM:618107
Transaldolase Deficiency	Anemia, Hepatosplenomegaly, Thrombocytopenia	ORPHA:101028
Diffuse Neonatal Hemangiomatosis	Anemia, Thrombocytopenia	ORPHA:2123
Familial Benign Copper Deficiency	Anemia	ORPHA:1551
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion...	OMIM:613011
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Myeloid leukemia, Anemia	OMIM:614742
Hemochromatosis, Type 3	Anemia, Lymphopenia, Neutropenia	OMIM:604250
Focal Segmental Glomerulosclerosis 1	Anemia	OMIM:603278
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Anemia, Splenomegaly	OMIM:620296
Amme Complex	Elliptocytosis	OMIM:300194
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Mcleod Syndrome	Acanthocytosis, Splenomegaly	OMIM:300842
Tufted Angioma	Anemia, Thrombocytopenia	ORPHA:1063
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Anemia, Splenomegaly, Pancytopenia, Hemophagocytosis	OMIM:618398
Mitochondrial Complex I Deficiency, Nuclear Type 39	Anemia	OMIM:620135
Infantile Liver Failure Syndrome 1	Anemia, Macrocytic anemia	OMIM:615438
Coach Syndrome 3	Anemia	OMIM:619113
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Neutropenia	ORPHA:2169
Hemochromatosis, Type 5	Anemia	OMIM:615517
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Anemia	ORPHA:3405
Anemia, Congenital Dyserythropoietic, Type Iiia	Macrocytic anemia, Congenital hypoplastic anemia, Anemia of inadequate production	OMIM:105600
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Stomatocytosis, Hemolytic anemia, Splenomegaly	OMIM:608885
Rothmund-Thomson Syndrome, Type 3	Anemia, Anisopoikilocytosis	OMIM:615789
Immune Dysregulation, Autoimmunity, And Autoinflammation	Anemia	OMIM:620514
Imerslund-Grasbeck Syndrome 2	Anemia, Megaloblastic anemia	OMIM:618882
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Anemia	OMIM:612840
Leishmaniasis	Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Increased circulating ant...	ORPHA:507
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Neutropenia	OMIM:617056
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leu...	OMIM:127550
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:612924
Combined Oxidative Phosphorylation Deficiency 41	Anemia	OMIM:618838
Congenital Erythropoietic Porphyria	Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anisocytosis, Thrombocytopenia,...	ORPHA:79277
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:612926
Vitamin B12-Unresponsive Methylmalonic Acidemia	Anemia, Leukopenia, Thrombocytopenia, Macrocytic anemia	ORPHA:27
Paroxysmal Nocturnal Hemoglobinuria	Pancytopenia, Leukopenia, Erythroid hyperplasia, Reticulocytosis, Abnormal erythrocyte enzyme con...	ORPHA:447
Abetalipoproteinemia	Anemia, Acanthocytosis, Reticulocytosis	ORPHA:14
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612562
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Acanthocytosis, Poikilocytosis	OMIM:618947
Hereditary Cryohydrocytosis With Reduced Stomatin	Spontaneous hemolytic crises, Hepatosplenomegaly, Stomatocytosis	ORPHA:168577
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:612925
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Anemia	ORPHA:514
Maternal Uniparental Disomy Of Chromosome 4	Abnormal erythrocyte morphology, Acanthocytosis	ORPHA:96180
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Thrombocytopenia, Anem...	ORPHA:100026
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Elliptocytosis	ORPHA:86818
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Increased circulating IgE level, Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-po...	OMIM:304790
Corticosteroid-Binding Globulin Deficiency	Anemia	OMIM:611489
Wolman Disease	Anemia, Bone-marrow foam cells, Splenomegaly	ORPHA:75233
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Impaired ...	OMIM:608203
Bone Marrow Failure Syndrome 3	Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Persistence of h...	OMIM:617052
Diamond-Blackfan Anemia 10	Anemia, Steroid-responsive anemia, Reticulocytopenia, Macrocytic anemia	OMIM:613309
Aceruloplasminemia	Anemia	OMIM:604290
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal reticulocyte morphology	ORPHA:2522
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Anemia, Lymphopenia, Thrombocytopenia	OMIM:620365
Letterer-Siwe Disease	Anemia, Hepatosplenomegaly, Neutropenia, Thrombocytopenia	OMIM:246400
Pearson Syndrome	Bone marrow hypocellularity, Pancytopenia, Reticulocytosis, Splenomegaly, Neutropenia, Thrombocyt...	ORPHA:699
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin...	ORPHA:124
Abcd Syndrome	Polycythemia	OMIM:600501
Lathosterolosis	Abnormal platelet morphology, Thrombocytopenia, Anisopoikilocytosis	ORPHA:46059
Nephronophthisis 4	Anemia	OMIM:606966
Bazex Syndrome	Anemia	ORPHA:166113
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:614520
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Bone marrow hypocellularity, Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutr...	ORPHA:508542
Shwachman-Diamond Syndrome	Normocytic anemia, Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volum...	ORPHA:811
Icf Syndrome	Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level	ORPHA:2268
Osteopetrosis, Autosomal Recessive 9	Anemia	OMIM:620366
Fanconi Anemia, Complementation Group R	Anemia, Bone marrow hypocellularity	OMIM:617244
Lathosterolosis	Anisopoikilocytosis	OMIM:607330
Fanconi Anemia, Complementation Group E	Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia	OMIM:600901
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymphocytopenia...	OMIM:603554
Immunodeficiency 22	Decreased circulating IgG level, Decreased circulating IgA level, Decreased proportion of CD4-pos...	OMIM:615758
Hereditary Orotic Aciduria	Anemia, Splenomegaly, Impaired T cell function	ORPHA:30
Neutrophilic Dermatosis, Acute Febrile	Anemia	OMIM:608068
Fanconi Anemia, Complementation Group A	Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia	OMIM:227650
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:105650
Good Syndrome	Anemia, Decreased circulating antibody level, Thrombocytopenia, Abnormal leukocyte morphology	ORPHA:169105
Sandifer Syndrome	Anemia	ORPHA:71272
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Lymphopenia, Abnormal lymphocyte morphology, Leukopenia, R...	ORPHA:99826
Fanconi Anemia, Complementation Group C	Bone marrow hypocellularity, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopen...	OMIM:227645
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Refractory sideroblastic anemia, Reticulocytopenia, Neutropen...	OMIM:557000
Pantothenate Kinase-Associated Neurodegeneration	Acanthocytosis	ORPHA:157850
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Anemia	ORPHA:329971
Tafro Syndrome	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytopenia, Anemia	ORPHA:457077
Nephronophthisis 1	Anemia	OMIM:256100
Osteopetrosis With Renal Tubular Acidosis	Bone marrow hypocellularity, Pancytopenia, Leukopenia, Thrombocytopenia, Elliptocytosis, Anemia	ORPHA:2785
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Anemia, Elliptocytosis	OMIM:300990
Glycogen Storage Disease Xii	Normocytic anemia, Splenomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldolase activit...	OMIM:611881
Osteopetrosis, Autosomal Recessive 3	Anemia, Hepatosplenomegaly, Extramedullary hematopoiesis	OMIM:259730
Arteriosclerosis, Severe Juvenile	Anemia	OMIM:208060
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Anemia, Lymphopenia, Agammaglobulinemia	ORPHA:935
Glucagonoma	Acanthocytosis, Normochromic anemia	ORPHA:97280
Senior-Loken Syndrome 1	Anemia	OMIM:266900
Nephronophthisis 11	Anemia	OMIM:613550
Gaisböck Syndrome	Increased red blood cell count, Increased hematocrit, Increased mean corpuscular hemoglobin conce...	ORPHA:90041
Fanconi Anemia, Complementation Group D2	Bone marrow hypocellularity, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopen...	OMIM:227646
Neurodegeneration With Brain Iron Accumulation 1	Acanthocytosis	OMIM:234200
Cogan Syndrome	Anemia, Leukocytosis, Thrombocytosis	ORPHA:1467
Juvenile Polyposis Syndrome	Anemia	OMIM:174900
Choreoacanthocytosis	Abnormal erythrocyte enzyme concentration or activity, Acanthocytosis, Splenomegaly	ORPHA:2388
Eisenmenger Syndrome	Iron deficiency anemia, Increased mean corpuscular volume, Hypochromic microcytic anemia	ORPHA:97214

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 Dmtn

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 Dmtn.

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

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
Dmtn^{tm1e(KOMP)Mbp}	Targeted, non-conditional allele	ES Cells
Dmtn^{tm1a(KOMP)Mbp}	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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