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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 (373 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	Erythroid hypoplasia, Anemia, Steroid-responsive anemia	OMIM:618312
Diamond-Blackfan Anemia-Like	Pure red cell aplasia, Steroid-responsive anemia	OMIM:617911
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, Splenomegal...	OMIM:612690
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Hemoglobin D Disease	Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he...	ORPHA:90039
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis	OMIM:616649
Spherocytosis, Type 4	Splenomegaly, Hemolytic anemia, Reticulocytosis, Spherocytosis	OMIM:612653
Pyropoikilocytosis, Hereditary	Elliptocytosis, Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis	OMIM:266140
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis	OMIM:603529
Anemia, Sideroblastic, 4	Abnormal erythrocyte morphology, Sideroblastic anemia	OMIM:182170
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Cyanosis, Transient Neonatal	Methemoglobinemia, Anemia, Reticulocytosis	OMIM:613977
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Spherocytosis, Type 1	Splenomegaly, Hemolytic anemia, Reticulocytosis, Spherocytosis	OMIM:182900
Hyperbilirubinemia, Shunt, Primary	Splenomegaly, Anemia of inadequate production, Erythroid hyperplasia, Reticulocytosis	OMIM:237800
Diamond-Blackfan Anemia 13	Normocytic anemia, Elevated red cell adenosine deaminase level	OMIM:615909
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin	ORPHA:231249
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Retic...	OMIM:616689
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Stomatocytosis, Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia	OMIM:301083
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho...	ORPHA:766
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
Anemia, Congenital Dyserythropoietic, Type Ib	Anemia, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Anemia of inadequat...	OMIM:615631
Fetal Cytomegalovirus Syndrome	Anemia, Splenomegaly	ORPHA:294
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology	OMIM:300622
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro...	ORPHA:67044
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis	OMIM:179700
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decreased mean corpuscular he...	ORPHA:3203
Iron-Refractory Iron Deficiency Anemia	Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis	OMIM:206200
Elliptocytosis 2	Elliptocytosis, Hemolytic anemia, Reticulocytosis	OMIM:130600
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic...	ORPHA:251380
Anemia, Congenital Dyserythropoietic, Type Ii	Anemia of inadequate production, Splenomegaly, Reticulocytosis	OMIM:224100
Familial Pseudohyperkalemia	Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume	ORPHA:90044
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies	OMIM:140700
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Decreased mean corpuscular volume, Anemia, Sideroblastic anemia, Hypochromia	OMIM:205950
Glutamate-Cysteine Ligase Deficiency	Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly	ORPHA:33574
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia	Anemia	ORPHA:2802
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Abnormal platelet function, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly	ORPHA:231393
Thrombocytopenia With Beta-Thalassemia, X-Linked	Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen...	OMIM:314050
Chromosome 5Q Deletion Syndrome	Anemia of inadequate production, Erythroid hypoplasia, Refractory macrocytic anemia	OMIM:153550
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume	OMIM:252270
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Elliptocytosis, Impaired platelet aggregation, Poikilocytosis, Anisocytosis, Bone marrow hypocell...	OMIM:300835
Rh Deficiency Syndrome	Stomatocytosis, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Anisocytosis, Macrocytic a...	ORPHA:71275
Delta-Beta-Thalassemia	Anemia, Abnormal hemoglobin, Microcytic anemia	ORPHA:231237
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Elliptocytosis, Anemia of inadequate production, Hemolytic anemia	OMIM:166910
Diamond-Blackfan Anemia 3	Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:610629
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Increased mean corpusc...	OMIM:619041
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia	ORPHA:231242
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185000
Nephronophthisis	Anemia	ORPHA:655
Elliptocytosis 3	Decreased mean corpuscular volume, Elliptocytosis, Chronic hemolytic anemia, Pyropoikilocytosis	OMIM:617948
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly	OMIM:617441
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyserythropoietic anemia, Po...	OMIM:224120
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis	OMIM:619398
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis, Poikilocytosis	OMIM:300367
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:612126
Isobutyryl-Coa Dehydrogenase Deficiency	Anemia	OMIM:611283
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Chronic hemolytic anemia, Thrombo...	ORPHA:232
Ovalocytosis, Southeast Asian	Elliptocytosis, Hemolytic anemia	OMIM:166900
Erythrocytosis, Familial, 3	Increased hematocrit, Increased red blood cell mass, Increased hemoglobin	OMIM:609820
Reticuloendotheliosis, X-Linked	Anemia, Hepatosplenomegaly	OMIM:312500
Erythrocytosis, Familial, 8	Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia	OMIM:222800
Hereditary Spherocytosis	Increased mean corpuscular hemoglobin concentration, Anemia, Spontaneous hemolytic crises, Reticu...	ORPHA:822
Erythrocytosis, Familial, 5	Increased hematocrit, Increased hemoglobin, Polycythemia	OMIM:617907
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Spastic Paraplegia And Evans Syndrome	Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia	OMIM:601608
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Glutathione Peroxidase Deficiency	Compensated hemolytic anemia, Heinz bodies	OMIM:614164
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Nonspherocytic hemolytic anemia, Splenomegaly, Normochromic a...	OMIM:235700
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Erythrocytosis, Familial, 6	Increased hematocrit, Increased hemoglobin, Polycythemia	OMIM:617980
Dehydrated Hereditary Stomatocytosis	Increased mean corpuscular hemoglobin concentration, Congenital hemolytic anemia, Hemolytic anemi...	ORPHA:3202
Erythrocytosis, Familial, 4	Increased hematocrit, Increased hemoglobin, Polycythemia	OMIM:611783
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio	OMIM:613978
Intrinsic Factor Deficiency	Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic anemia, Megalo...	OMIM:261000
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he...	OMIM:603902
Acute Erythroid Leukemia	Leukopenia, Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity	ORPHA:318
Congenital Atransferrinemia	Anemia	ORPHA:1195
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Glycogen Storage Disease Vii	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Reticulocytosis	OMIM:232800
Diamond-Blackfan Anemia 12	Elevated red cell adenosine deaminase level, Macrocytic anemia, Reticulocytopenia, Normochromic a...	OMIM:615550
Eosinophilia, Familial	Anemia, Thrombocytopenia, Leukocytosis, Eosinophilia	OMIM:131400
Anemia, Congenital Dyserythropoietic, Type Iv	Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy...	OMIM:613673
Diamond-Blackfan Anemia 16	Anemia	OMIM:617408
Phosphoglycerate Kinase 1 Deficiency	Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis	OMIM:300653
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
Adenosine Triphosphatase Deficiency, Anemia Due To	Nonspherocytic hemolytic anemia	OMIM:102800
Hemolytic Anemia With Thermal Sensitivity Of Red Cells	Congenital hemolytic anemia	OMIM:235370
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:612631
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Heinz bodies, Fava bean-induced hemolytic anemia, Reticulocytosis, Poikilocytosis, Anisocytosis, ...	OMIM:300908
Bone Marrow Failure Syndrome 2	Leukopenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity	OMIM:615715
Diamond-Blackfan Anemia 9	Anemia	OMIM:613308
Hereditary Elliptocytosis	Stomatocytosis, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Reticulocytosis, P...	ORPHA:288
Anemia, Sideroblastic, 5	Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia	OMIM:619523
Anemia, Hypochromic Microcytic, With Iron Overload 2	Anemia, Poikilocytosis, Decreased mean corpuscular volume, Hypochromia, Splenomegaly	OMIM:615234
Protoporphyria, Erythropoietic, 2	Iron deficiency anemia	OMIM:618015
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi...	ORPHA:2133
Rh-Null, Regulator Type	Stomatocytosis, Hemolytic anemia	OMIM:268150
Elliptocytosis 1	Elliptocytosis, Splenomegaly, Hemolytic anemia	OMIM:611804
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Thrombocytopenia, Leukemia	OMIM:133180
Hemophagocytic Lymphohistiocytosis, Familial, 3	Anemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia	OMIM:608898
Bone Marrow Failure And Diabetes Mellitus Syndrome	T-cell acute lymphoblastic leukemias, Pancytopenia, Increased mean corpuscular volume	OMIM:620044
Red Cell Permeability Defect	Elliptocytosis	OMIM:179650
Osteopetrosis, Autosomal Recessive 4	Anemia, Thrombocytopenia, Splenomegaly, Reticulocytosis	OMIM:611490
Megaloblastic Anemia, Folate-Responsive	Episodic hemolytic anemia, Schistocytosis, Hypersegmentation of neutrophil nuclei, Folate-respons...	OMIM:601775
Thrombotic Thrombocytopenic Purpura	Thrombocytopenia, Microangiopathic hemolytic anemia, Reticulocytosis	ORPHA:54057
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Neutropenia, Macrocytic anemia	OMIM:612563
Pyruvate Kinase Deficiency Of Red Cells	Erythroid hyperplasia, Reticulocytosis, Decreased hemoglobin concentration, Chronic hemolytic ane...	OMIM:266200
Glutathione Synthetase Deficiency	Hemolytic anemia	ORPHA:32
Harderoporphyria	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:618892
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Thrombocytopenia, Abnormal hemoglobin	ORPHA:3319
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Anemia, Hypochromia, Erythroid hyperplasia	OMIM:206100
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Increased circulating antibody level, Acute monocytic leukemia, Thrombocytosis, Eosinophi...	OMIM:202700
Orotic Aciduria	Pyrimidine-responsive megaloblastic anemia, Poikilocytosis, Anisocytosis, Impaired T cell functio...	OMIM:258900
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Neutropenia, Macrocytic anemia, Reticulocytopenia	OMIM:612527
Bleeding Disorder, Platelet-Type, 16	Anemia, Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocyto...	OMIM:187800
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Decreased mean corpuscular volume, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly	OMIM:611590
Polycythemia Vera	Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen...	OMIM:263300
Imerslund-Gräsbeck Syndrome	Megaloblastic anemia, Anisopoikilocytosis, Abnormal hemoglobin concentration, Reticulocytosis, Pa...	ORPHA:35858
Congenital Dyserythropoietic Anemia Type Iii	Anemia, Poikilocytosis, Abnormal erythrocyte morphology, Anisocytosis, Increased mean corpuscular...	ORPHA:98870
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Hepatosplenomegaly	OMIM:273680
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:230450
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Hyperlysinemia, Type I	Anemia	OMIM:238700
Diamond-Blackfan Anemia 20	Anemia, Erythroid hypoplasia	OMIM:618313
Anemia, Sideroblastic, 1	Hypochromic microcytic anemia, Anemia of inadequate production, Sideroblastic anemia, Macrocytic ...	OMIM:300751
Sitosterolemia 1	Stomatocytosis, Anemia, Reticulocytosis, Impaired platelet aggregation, Episodic hemolytic anemia...	OMIM:210250
Hydrops Fetalis, Nonimmune	Anemia	OMIM:236750
Bleeding Disorder, Platelet-Type, 19	Anemia, Thrombocytopenia, Macrothrombocytopenia	OMIM:616176
Bone Marrow Failure Syndrome 6	Anemia, Lymphopenia, Persistence of hemoglobin F, Bone marrow hypocellularity, Increased mean cor...	OMIM:618849
Refractory Anemia	Neutropenia, Normocytic anemia, Erythroid hypoplasia, Bone marrow hypocellularity, Macrocytic ane...	ORPHA:98826
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Increased red ce...	OMIM:194380
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis	ORPHA:713
Trimethylaminuria	Anemia, Neutropenia, Splenomegaly	OMIM:602079
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Megaloblastic anemia	OMIM:243320
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Acute Myelomonocytic Leukemia	Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia	ORPHA:517
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia...	OMIM:300946
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Nonspherocytic hemolytic anemia, Splenomegaly	OMIM:206400
Alpha-Thalassemia Myelodysplasia Syndrome	Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio	OMIM:300448
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic anemia, Macrocytic dyserythropoietic anemia	OMIM:619789
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration	Acanthocytosis	OMIM:607236
Asplenia, Isolated Congenital	Asplenia, Howell-Jolly bodies, Thrombocytosis	OMIM:271400
Erythrocytosis, Familial, 1	Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly	OMIM:133100
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anemia, Elliptocytosis, Poikilocytosis, Decreased mean corpuscular volume, Anisocytosis	OMIM:616959
Diamond-Blackfan Anemia 5	Erythroid hypoplasia, Leukopenia, Macrocytic anemia, Reticulocytopenia	OMIM:612528
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Leukopenia, Anemia, Increased circulating antibody level, Extramedullary hematopoiesis, Thrombocy...	OMIM:615285
Developmental And Epileptic Encephalopathy 50	Anemia, Schistocytosis, Anisopoikilocytosis, Acanthocytosis	OMIM:616457
Immunodeficiency 69	Anemia, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly	OMIM:618963
Fetal Parvovirus Syndrome	Anemia, Thrombocytopenia	ORPHA:295
Fanconi Anemia, Complementation Group G	Anemia, Thrombocytopenia, Neutropenia, Leukemia	OMIM:614082
Alpha-Thalassemia	Anemia, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Microcytic anemia	ORPHA:846
Abetalipoproteinemia	Acanthocytosis	OMIM:200100
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Fava bean-induced hemolytic anemia	OMIM:618660
8P11.2 Deletion Syndrome	Hemolytic anemia, Splenomegaly, Spherocytosis	ORPHA:251066
Primary Myelofibrosis	Anemia, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Thrombocytosis, Leukocytosis, Extramedu...	ORPHA:824
Pernicious Anemia	Megaloblastic anemia	OMIM:170900
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Splenomegaly, Impaired collagen-related peptide-induced platelet aggregation, Hem...	OMIM:153670
Atransferrinemia	Hypochromic anemia	OMIM:209300
Thrombotic Thrombocytopenic Purpura, Hereditary	Thrombocytopenia, Schistocytosis, Microangiopathic hemolytic anemia, Reticulocytosis	OMIM:274150
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:231900
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Anemia, Dysplastic erythropoesis, Reticulocytopenia, Anisopoikilocytosis, Hepatosplenomegaly, Dec...	ORPHA:300298
Beta-Thalassemia	Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio	OMIM:613985
Alpha-Thalassemia	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:604131
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circulating antibody level, Lymphopenia, ...	ORPHA:169079
Thrombocytopenia 5	Anemia, Thrombocytopenia, Neutropenia	OMIM:616216
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Thrombocytopenia, Schistocytosis, Microangiopathic hemolytic anemia, Reticulocytosis	OMIM:235400
Immunodeficiency 46	Anemia, Neutropenia, Intermittent thrombocytopenia, Decreased circulating antibody level	OMIM:616740
Orthostatic Hypotension 2	Anemia	OMIM:618182
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:616435
Formiminoglutamic Aciduria	Anemia, Megaloblastic anemia	ORPHA:51208
Glutamate Formiminotransferase Deficiency	Megaloblastic anemia, Hypersegmentation of neutrophil nuclei	OMIM:229100
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Anemia	ORPHA:371
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Erythroid hypoplasia, A...	ORPHA:86841
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
3-Methylglutaconic Aciduria, Type Viia	Anemia, Neutropenia, Anisopoikilocytosis	OMIM:619835
Dohle Bodies And Leukemia	Leukocyte inclusion bodies, Acute myeloid leukemia, Anemia	OMIM:223350
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Leukopenia, Acute myeloid leukemia, Bone marrow hypocellularity, Refractory anemia, Monocytosis	OMIM:616871
Imerslund-Grasbeck Syndrome 2	Megaloblastic anemia	OMIM:618882
Acquired Idiopathic Sideroblastic Anemia	Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt...	ORPHA:75564
Ichthyosis, Congenital, Autosomal Recessive 5	Acanthocytosis	OMIM:604777
Malaria	Anemia, Thrombocytopenia	ORPHA:673
Idiopathic Aplastic Anemia	Anemia, Reticulocytopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	ORPHA:88
Rosaï-Dorfman Disease	Anemia, Dysgammaglobulinemia	ORPHA:158014
Breath-Holding Spells	Iron deficiency anemia	OMIM:607578
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Neutropenia, Bone marrow hypocellularity	OMIM:617243
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Hypoplastic a...	OMIM:159550
Alpha-Thalassemia-Myelodysplastic Syndrome	Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia	ORPHA:231401
Immunodeficiency 96	Decreased circulating total IgM, Increased proportion of gamma-delta T cells, Defective T cell pr...	OMIM:619774
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Elliptocytosis, Reticulocytosis, Hepatosplenomegaly, Poikilocytosis, Anisocytos...	OMIM:618278
Focal Segmental Glomerulosclerosis 1	Anemia	OMIM:603278
Mu-Heavy Chain Disease	Increased circulating antibody level, Anemia, Splenomegaly, Abnormal B cell count	ORPHA:100024
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Anemia	OMIM:610090
Oslam Syndrome	Anemia	OMIM:165660
Erythrocytosis, Familial, 2	Increased hematocrit, Increased red blood cell mass, Increased hemoglobin	OMIM:263400
Tempi Syndrome	Increased hematocrit, Increased circulating IgG level, Polycythemia	ORPHA:284227
Lesch-Nyhan Syndrome	Anemia	ORPHA:510
Bone Marrow Failure Syndrome 4	Leukopenia, Anemia, Decreased circulating antibody level, Bone marrow hypocellularity, Thrombocyt...	OMIM:618116
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly	ORPHA:75563
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Anemia	ORPHA:3204
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia, Pancytopenia	OMIM:613839
Hemolytic Anemia, Congenital, X-Linked	Hemolytic anemia	OMIM:301015
Pontocerebellar Hypoplasia, Type 15	Chronic neutropenia, Thrombocytopenia, Anemia	OMIM:619302
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anemia, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anisocytosi...	OMIM:616860
Kasabach-Merritt Syndrome	Leukopenia, Anemia, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Neutrop...	ORPHA:2330
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Abnormal natural killer cell physiology, Decreased circulating antibody level, Hepatosple...	OMIM:613101
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Anemia, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly	OMIM:607616
Hemangioma-Thrombocytopenia Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Thrombocythemia 1	Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr...	OMIM:187950
Sickle Cell Disease	Splenomegaly, Hemolytic anemia, Target cells, Splenic infarction, Leukocytosis, Increased red cel...	OMIM:603903
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F	OMIM:612561
Senior-Loken Syndrome 4	Anemia	OMIM:606996
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	B lymphocytopenia, Decreased circulating antibody level, Sideroblastic anemia, Hypochromic microc...	OMIM:616084
Hemophagocytic Lymphohistiocytosis, Familial, 4	Anemia, Hemophagocytosis, Thrombocytopenia, Neutropenia, Splenomegaly	OMIM:603552
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia	OMIM:616738
Hypobetalipoproteinemia, Familial, 1	Acanthocytosis	OMIM:615558
Ghosal Hematodiaphyseal Dysplasia	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Refractory anemia	OMIM:231095
Intermediate Generalized Junctional Epidermolysis Bullosa	Anemia	ORPHA:79402
Alpha-Heavy Chain Disease	Anemia, Splenomegaly, Dysgammaglobulinemia	ORPHA:100025
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Thrombocytopenia, Splenomegaly, Anemia	OMIM:610539
Agammaglobulinemia 8B, Autosomal Recessive	Anemia, Decreased circulating total IgM, B lymphocytopenia, Decreased proportion of CD8-positive,...	OMIM:619824
Immunodeficiency 21	Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly...	OMIM:614172
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Megaloblastic anemia, Decreased circulating antibody level, Lymphopenia, Pancytopenia, Thrombocyt...	OMIM:617780
Hydatidiform Mole	Anemia	ORPHA:99927
Vitamin B12-Responsive Methylmalonic Acidemia	Anemia	ORPHA:28
Mitochondrial Myopathy And Sideroblastic Anemia	Anemia	ORPHA:2598
Primary Familial Polycythemia	Abnormal hemoglobin, Polycythemia	ORPHA:90042
Osteopetrosis, Autosomal Recessive 8	Anemia, Thrombocytopenia, Splenomegaly	OMIM:615085
Choreoacanthocytosis	Acanthocytosis	OMIM:200150
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Anemia	ORPHA:2668
Transcobalamin Ii Deficiency	Decreased circulating total IgM, Reticulocytopenia, Pancytopenia, Erythroid hypoplasia, Decreased...	OMIM:275350
Amed Syndrome, Digenic	Acute myeloid leukemia, Leukopenia, Anemia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:619151
Reticular Dysgenesis	Leukopenia, Anemia, Decreased circulating antibody level, Abnormality of neutrophils	ORPHA:33355
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Reticulocytosis, Schistocytosis, Leukocytosis, Thrombocytopenia	ORPHA:90038
Copper Deficiency, Familial Benign	Anemia	OMIM:121270
Immunodeficiency 27A	Anemia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Increased circulating IgM level, Histio...	OMIM:209950
Autoimmune Lymphoproliferative Syndrome	Coombs-positive hemolytic anemia, Reticulocytosis, Bone marrow hypocellularity, Eosinophilia, Dec...	ORPHA:3261
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:266120
Hemochromatosis, Type 2B	Anemia, Splenomegaly	OMIM:613313
Aregenerative Anemia	Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni...	ORPHA:101096
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Anemia	OMIM:613092
Immunodeficiency 102	Leukopenia, Anemia, Reduced natural killer cell count, Decreased circulating total IgM, B lymphoc...	OMIM:301082
Hb Bart'S Hydrops Fetalis	Anemia, Abnormal hemoglobin, Splenomegaly	ORPHA:163596
Bone Marrow Failure Syndrome 5	Anemia, Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level	OMIM:618165
Immunodeficiency 32B	Abnormal circulating IgG level, Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Impaired oxida...	OMIM:226990
Beta-Thalassemia Major	Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decreased mean corpuscular hemoglobin c...	ORPHA:231214
Schnitzler Syndrome	Anemia, Increased circulating IgM level, Splenomegaly, Leukocytosis	ORPHA:37748
Beta-Thalassemia	Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia	ORPHA:848
Osteopetrosis, Autosomal Dominant 3	Anemia, Splenomegaly	OMIM:618107
Diffuse Neonatal Hemangiomatosis	Anemia, Thrombocytopenia	ORPHA:2123
Chylomicron Retention Disease	Acanthocytosis	ORPHA:71
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Increased mean corpuscular volume, Megaloblastic anemia	OMIM:277410
Familial Benign Copper Deficiency	Anemia	ORPHA:1551
Diamond-Blackfan Anemia 11	Anemia, Anemia of inadequate production, Neutropenia, Bone marrow hypocellularity	OMIM:614900
Lymphoproliferative Syndrome 1	Leukopenia, Anemia, Decreased circulating antibody level, Pancytopenia, Autoimmune thrombocytopen...	OMIM:613011
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Anemia, Hemophagocytosis, Splenomegaly, Pancytopenia	OMIM:618398
Hemochromatosis, Type 3	Anemia, Neutropenia, Lymphopenia	OMIM:604250
Transaldolase Deficiency	Anemia, Thrombocytopenia, Hepatosplenomegaly	ORPHA:101028
Amme Complex	Elliptocytosis	OMIM:300194
Mcleod Syndrome	Splenomegaly, Acanthocytosis	OMIM:300842
Coach Syndrome 3	Anemia	OMIM:619113
Hemochromatosis, Type 5	Anemia	OMIM:615517
Mitochondrial Complex I Deficiency, Nuclear Type 39	Anemia	OMIM:620135
Tufted Angioma	Anemia, Thrombocytopenia	ORPHA:1063
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Anemia	ORPHA:3405
Anemia, Congenital Dyserythropoietic, Type Iiia	Congenital hypoplastic anemia, Anemia of inadequate production, Macrocytic anemia	OMIM:105600
Methylcobalamin Deficiency Type Cble	Increased mean corpuscular volume, Neutropenia, Macrocytic anemia, Pancytopenia	ORPHA:2169
Infantile Liver Failure Syndrome 1	Anemia, Macrocytic anemia	OMIM:615438
Leukocyte Adhesion Deficiency, Type Iii	Anemia, Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Splenomegaly	OMIM:612840
Dyskeratosis Congenita, Autosomal Dominant 1	Leukopenia, Anemia, Lymphopenia, Bone marrow hypocellularity, Increased mean corpuscular volume, ...	OMIM:127550
Short Stature With Microcephaly And Distinctive Facies	Anisopoikilocytosis, Anemia	OMIM:615789
Leishmaniasis	Leukopenia, Anemia, Abnormal macrophage morphology, Increased circulating antibody level, Pancyto...	ORPHA:507
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Neutropenia	OMIM:617056
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1	Anemia, Myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Aplastic anemia	OMIM:614742
Congenital Erythropoietic Porphyria	Leukopenia, Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosi...	ORPHA:79277
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Stomatocytosis, Hemolytic anemia, Splenomegaly	OMIM:608885
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:612924
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
Autoinflammation With Infantile Enterocolitis	Reduced natural killer cell count, Anemia, Reduced natural killer cell activity, Pancytopenia, Th...	OMIM:616050
Combined Oxidative Phosphorylation Deficiency 41	Anemia	OMIM:618838
Paroxysmal Nocturnal Hemoglobinuria	Leukopenia, Anemia, Hemolytic anemia, Abnormal erythrocyte enzyme level, Erythroid hyperplasia, R...	ORPHA:447
Vitamin B12-Unresponsive Methylmalonic Acidemia	Leukopenia, Thrombocytopenia, Anemia, Macrocytic anemia	ORPHA:27
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Thrombocytopenia, Neutropenia, Anemia	ORPHA:289916
Dermotrichic Syndrome	Anemia	ORPHA:99688
Abetalipoproteinemia	Acanthocytosis, Anemia, Reticulocytosis	ORPHA:14
Diamond-Blackfan Anemia 7	Increased mean corpuscular volume, Neutropenia, Macrocytic anemia	OMIM:612562
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:612925
Acute Monoblastic/Monocytic Leukemia	Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia	ORPHA:514
Corticosteroid-Binding Globulin Deficiency	Anemia	OMIM:611489
Cinca Syndrome	Leukocytosis, Anemia, Eosinophilia, Hepatosplenomegaly	OMIM:607115
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Acanthocytosis, Poikilocytosis	OMIM:618947
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Elliptocytosis	ORPHA:86818
Hereditary Cryohydrocytosis With Reduced Stomatin	Stomatocytosis, Spontaneous hemolytic crises, Hepatosplenomegaly	ORPHA:168577
Maternal Uniparental Disomy Of Chromosome 4	Abnormal erythrocyte morphology, Acanthocytosis	ORPHA:96180
Gamma-Heavy Chain Disease	Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Thrombocytopenia, Splenomegaly,...	ORPHA:100026
Wolman Disease	Splenomegaly, Anemia, Bone-marrow foam cells	ORPHA:75233
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve...	OMIM:608203
Diamond-Blackfan Anemia 10	Steroid-responsive anemia, Anemia, Macrocytic anemia, Reticulocytopenia	OMIM:613309
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal reticulocyte morphology	ORPHA:2522
Letterer-Siwe Disease	Thrombocytopenia, Anemia, Neutropenia, Hepatosplenomegaly	OMIM:246400
Aceruloplasminemia	Anemia	OMIM:604290
Pearson Syndrome	Anemia, Reticulocytosis, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Hypoplastic...	ORPHA:699
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytop...	OMIM:304790
Blackfan-Diamond Anemia	Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Pure red cell aplasia, Erythroid hypoplasi...	ORPHA:124
Abcd Syndrome	Polycythemia	OMIM:600501
Lathosterolosis	Thrombocytopenia, Abnormal platelet morphology, Anisopoikilocytosis	ORPHA:46059
Nephronophthisis 4	Anemia	OMIM:606966
Bazex Syndrome	Anemia	ORPHA:166113
Shwachman-Diamond Syndrome	Acute myeloid leukemia, Chronic neutropenia, Leukopenia, Anemia, Neutropenia, Impaired neutrophil...	ORPHA:811
Lathosterolosis	Anisopoikilocytosis, Hepatosplenomegaly, Schistocytosis, Increased mean platelet volume, Acanthoc...	OMIM:607330
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Thrombocytopenia, Neutropenia, Bone marrow hypocellularity, Anemia	OMIM:614520
Pseudo-Torch Syndrome 3	Anemia, Congenital thrombocytopenia, Leukocytosis	OMIM:618886
Solitary Rectal Ulcer Syndrome	Anemia	ORPHA:209964
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Leukopenia, Anemia, Reticulocytopenia, B lymphocytopenia, Lymphopenia, Bone marrow hypocellularit...	ORPHA:508542
Icf Syndrome	Anemia, Decreased circulating antibody level, Lymphopenia, Abnormality of neutrophils	ORPHA:2268
Fanconi Anemia, Complementation Group E	Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Neutropenia, Leukemia	OMIM:600901
Omenn Syndrome	Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Eosinophilia, Thro...	OMIM:603554
Immunodeficiency 22	Anemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased circulating IgA lev...	OMIM:615758
Osteopetrosis, Autosomal Recessive 2	Anemia, Pancytopenia, Hepatosplenomegaly, Extramedullary hematopoiesis, Thrombocytopenia	OMIM:259710
Neutrophilic Dermatosis, Acute Febrile	Anemia	OMIM:608068
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Anemia, Neutrophilia	ORPHA:54251
Eosinophilic Gastroenteritis	Leukocytosis, Anemia, Eosinophilia	ORPHA:2070
Fanconi Anemia, Complementation Group A	Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Neutropenia, Leukemia	OMIM:227650
Hereditary Orotic Aciduria	Anemia, Impaired T cell function, Splenomegaly	ORPHA:30
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Iron deficiency anemia, Anemia, Thrombocytosis, Decreased circulating antibody level	OMIM:226300
Stormorken Syndrome	Asplenia, Anemia, Howell-Jolly bodies, Thrombocytopenia, Hypoplastic spleen	OMIM:185070
Gaucher Disease, Type I	Anemia, Hypersplenism, Pancytopenia, Thrombocytopenia, Splenomegaly	OMIM:230800
Marburg Hemorrhagic Fever	Leukopenia, Increased circulating antibody level, Reticulocytosis, Lymphopenia, Neutrophilia in p...	ORPHA:99826
Sandifer Syndrome	Anemia	ORPHA:71272
Fanconi Anemia, Complementation Group C	Anemia, Reticulocytopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropen...	OMIM:227645
Pearson Marrow-Pancreas Syndrome	Anemia, Reticulocytopenia, Refractory sideroblastic anemia, Sideroblastic anemia, Pancytopenia, T...	OMIM:557000
Combined Oxidative Phosphorylation Deficiency 40	Anemia	OMIM:618835
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Anemia	ORPHA:329971
Combined Oxidative Phosphorylation Deficiency 42	Anemia	OMIM:618839
Osteopetrosis With Renal Tubular Acidosis	Leukopenia, Anemia, Elliptocytosis, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia	ORPHA:2785
Good Syndrome	Anemia, Thrombocytopenia, Abnormal leukocyte morphology, Decreased circulating antibody level	ORPHA:169105
Nephronophthisis 1	Anemia	OMIM:256100
Pantothenate Kinase-Associated Neurodegeneration	Acanthocytosis	ORPHA:157850
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Elliptocytosis, Anemia	OMIM:300990
Osteopetrosis, Autosomal Recessive 3	Hepatosplenomegaly, Anemia, Extramedullary hematopoiesis	OMIM:259730
Methylmalonic Aciduria, Cblb Type	Anemia, Thrombocytopenia, Neutropenia, Pancytopenia	OMIM:251110
Glucagonoma	Acanthocytosis, Normochromic anemia	ORPHA:97280
Arteriosclerosis, Severe Juvenile	Anemia	OMIM:208060
Glycogen Storage Disease Xii	Anemia, Normocytic anemia, Nonspherocytic hemolytic anemia, Splenomegaly, Normochromic anemia	OMIM:611881
Proteasome-Associated Autoinflammatory Syndrome 3	Anemia, Increased circulating antibody level, Lymphopenia, Thrombocytopenia, Splenomegaly	OMIM:617591
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Anemia, Agammaglobulinemia, Lymphopenia	ORPHA:935
Nephronophthisis 11	Anemia	OMIM:613550
Senior-Loken Syndrome 1	Anemia	OMIM:266900
Gaisböck Syndrome	Increased mean corpuscular hemoglobin concentration, Increased red blood cell count, Increased he...	ORPHA:90041
Fanconi Anemia, Complementation Group D2	Anemia, Reticulocytopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropen...	OMIM:227646
Cogan Syndrome	Anemia, Thrombocytosis, Leukocytosis	ORPHA:1467
Neurodegeneration With Brain Iron Accumulation 1	Acanthocytosis	OMIM:234200
Lymphatic Malformation 7	Anemia	OMIM:617300
Juvenile Polyposis Syndrome	Anemia	OMIM:174900
Diamond-Blackfan Anemia 1	Reticulocytopenia, Thrombocytosis, Thrombocytopenia, Neutropenia, Elevated red cell adenosine dea...	OMIM:105650
Duodenal Neuroendocrine Tumor	Increased hematocrit, Iron deficiency anemia	ORPHA:100076
Choreoacanthocytosis	Abnormal erythrocyte enzyme level, Splenomegaly, Acanthocytosis	ORPHA:2388
Eisenmenger Syndrome	Hypochromic microcytic anemia, Increased mean corpuscular volume, Iron deficiency anemia	ORPHA:97214
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Anemia	OMIM:175050

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.

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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

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