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Gene: Lmo2 MGI:102811

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
LIM domain only 2
Synonyms:
Rhom-2,  Rbtn2,  Rbtn-2

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 Lmo2 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.

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

The table below shows human diseases predicted to be associated to Lmo2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... OMIM:261000
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias OMIM:620044
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Amegakaryocytic Thrombocytopenia, Congenital, 1
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia OMIM:604498
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb... OMIM:226990
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Sideroblastic anemia OMIM:182170
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i... OMIM:619130
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... ORPHA:232
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia OMIM:133180
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Anemia OMIM:615715
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Anemia, Hypochromic Microcytic, With Iron Overload 1
Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Bleeding Disorder, Platelet-Type, 16
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... OMIM:187800
Spastic Paraplegia And Evans Syndrome
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia OMIM:601608
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Anemia, Neutropenia OMIM:614082
Familial Pseudohyperkalemia
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume ORPHA:90044
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Bleeding Disorder, Platelet-Type, 19
Thrombocytopenia, Macrothrombocytopenia, Anemia OMIM:616176
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Acute Myelomonocytic Leukemia
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia ORPHA:517
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia OMIM:615285
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... OMIM:614470
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... ORPHA:3202
Trimethylaminuria
Splenomegaly, Anemia, Neutropenia OMIM:602079
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Leukopenia, Monocytosis, Refractory anemia OMIM:616871
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia OMIM:613839
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... OMIM:173590
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia OMIM:617948
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp... OMIM:618986
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... ORPHA:98870
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume OMIM:185000
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er... OMIM:617021
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... ORPHA:75564
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia OMIM:612527
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Immunodeficiency 46
Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Gray Platelet Syndrome
Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia ORPHA:721
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia OMIM:616738
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Malaria
Anemia, Thrombocytopenia ORPHA:673
Hemophagocytic Lymphohistiocytosis, Familial, 4
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia OMIM:603552
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ... OMIM:155100
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia OMIM:607616
Folate Malabsorption, Hereditary
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:229050
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
Transcobalamin Deficiency
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia ORPHA:859
Majeed Syndrome
Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:609628
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype... OMIM:616860
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:598500
Anemia, Hypochromic Microcytic, With Iron Overload 2
Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Hypochromia, Anemia OMIM:615234
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia OMIM:616435
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly OMIM:608898
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume OMIM:619774
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Thrombocythemia 2
Thrombocytosis OMIM:601977
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Increased mean corpuscular volume, Pancytopenia, Neutropenia ORPHA:2169
Slc35A1-Cdg
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia ORPHA:238459
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Nephrotic Syndrome, Type 7
Hemolytic anemia, Thrombocytopenia OMIM:615008
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Thrombocythemia 3
Thrombocytosis OMIM:614521
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Leukopenia, Thrombocytopenia OMIM:231095
Phosphoglycerate Dehydrogenase Deficiency
Thrombocytopenia, Megaloblastic anemia OMIM:601815
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Hermansky-Pudlak Syndrome 9
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count OMIM:615592
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ... ORPHA:86839
Bone Marrow Failure Syndrome 4
Leukopenia, Thrombocytopenia, Anemia OMIM:618116
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis OMIM:300367
Aicardi-Goutieres Syndrome 6
Splenomegaly, Hemolytic anemia, Thrombocytopenia OMIM:615010
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Hemophagocytosis, Anemia OMIM:613101
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Thrombocytopenia, Anemia, Splenomegaly OMIM:610539
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop... OMIM:127550
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia ORPHA:88
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Thrombocytopenia OMIM:616744
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Wt Limb-Blood Syndrome
Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia OMIM:194350
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia OMIM:277410
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Thrombo... OMIM:231200
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume, Reticulocytosis OMIM:611590
Diamond-Blackfan Anemia 7
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612562
Systemic Lupus Erythematosus 17
Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia OMIM:301080
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... OMIM:617052
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Anemia OMIM:615085
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, B lymphocytopenia, ... OMIM:150550
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Amed Syndrome, Digenic
Acute myeloid leukemia, Leukopenia, Thrombocytopenia, Anemia OMIM:619151
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia OMIM:615214
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... OMIM:617443
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, Dy... ORPHA:300298
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... OMIM:612690
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia, Absent circulating B cells, Abnormal T cell morphology OMIM:613501
Shwachman-Diamond Syndrome
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... ORPHA:811
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... ORPHA:124
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g... OMIM:601399
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia ORPHA:848
Systemic Lupus Erythematosus
Hemolytic anemia, Thrombocytopenia, Leukopenia OMIM:152700
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia OMIM:616959
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Thrombocytopenia, Anemia, Neutropenia ORPHA:289916
Isovaleric Acidemia
Leukopenia, Pancytopenia, Thrombocytopenia OMIM:243500
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Anemia ORPHA:2123
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia ORPHA:67048
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Anemia, Leu... OMIM:613011
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia OMIM:611490
Transaldolase Deficiency
Thrombocytopenia, Anemia, Hepatosplenomegaly ORPHA:101028
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Thrombocytopenia ORPHA:507
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Abnormality of neutrophils, Thrombocytopenia, Abnormal lym... ORPHA:229717
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Thrombocytopenia, Anemia, Neutropenia ORPHA:79312
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Diamond-Blackfan Anemia 12
Macrocytic anemia, Reticulocytopenia, Normochromic anemia OMIM:615550
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Tufted Angioma
Anemia, Thrombocytopenia ORPHA:1063
Vitamin B12-Unresponsive Methylmalonic Acidemia
Thrombocytopenia, Leukopenia, Macrocytic anemia, Anemia ORPHA:27
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Sea-Blue Histiocytosis
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... ORPHA:158057
Letterer-Siwe Disease
Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly OMIM:246400
Diamond-Blackfan Anemia 5
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Leukopenia OMIM:612528
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Absent circulating B cells OMIM:619693
Specific Granule Deficiency 2
Absent neutrophil specific granules, Thrombocytopenia, Anemia, Neutropenia OMIM:617475
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Neutropenia, Agra... OMIM:301078
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Stuve-Wiedemann Syndrome 2
Thrombocytopenia OMIM:619751
Babesiosis
Splenomegaly, Leukopenia, Hemolytic anemia, Thrombocytopenia ORPHA:108
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... ORPHA:101096
Myh9-Related Disease
Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele... ORPHA:182050
Moyamoya Disease 6 With Or Without Achalasia
Thrombocytopenia OMIM:615750
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... ORPHA:231222
Hemochromatosis, Type 3
Lymphopenia, Anemia, Neutropenia OMIM:604250
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia OMIM:603585
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio... OMIM:153670
Noonan Syndrome 12
Lymphopenia, Thrombocytopenia OMIM:618624
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Congenital Toxoplasmosis
Thrombocytopenia, Anemia ORPHA:858
Bleeding Disorder, Platelet-Type, 17
Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll... OMIM:187900
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... ORPHA:486
Gaucher Disease, Type Iii
Splenomegaly, Pancytopenia, Thrombocytopenia OMIM:231000
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Splenomegaly, Anemia, Reduced natural killer cell count, Thrombocytopenia OMIM:616050
Atelis Syndrome 1
Leukopenia, Thrombocytopenia, Anemia OMIM:620184
Aicardi-Goutieres Syndrome 4
Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly OMIM:610333
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thrombocytopenia, Megaloblastic anemia ORPHA:49827
Agammaglobulinemia 4, Autosomal Recessive
Neutropenia, Abnormal T cell morphology OMIM:613502
Acute Peripheral Arterial Occlusion
Leukocytosis, Pallor ORPHA:90064
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Splenomegaly, Lymphocytosis, Hemophagocytosis, Neutropenia, Thromb... OMIM:308240
Immune Thrombocytopenia
Thrombocytopenia ORPHA:3002
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Absent circulating B cells OMIM:619707
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Abnorma... ORPHA:100026
Primary Myelofibrosis
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatos... ORPHA:824
Whim Syndrome 1
Neutropenia OMIM:193670
Peripheral Cone Dystrophy
Pallor OMIM:609021
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Thrombocytopenia, Lymphopenia, Anemia OMIM:620365
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... OMIM:169400
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,... OMIM:304790
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... OMIM:603909
Braddock-Carey Syndrome 2
Thrombocytopenia OMIM:619981
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612924
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia OMIM:614727
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612926
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ... OMIM:139090
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Thrombocytopenia OMIM:619644
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:612783
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia OMIM:606843
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Neutropenia OMIM:617056
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Thrombocytopenia OMIM:249270
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Aggressive Systemic Mastocytosis
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increased propor... ORPHA:98850
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Sitosterolemia 1
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... OMIM:210250
Rhabdoid Tumor
Thrombocytopenia, Anemia ORPHA:69077
Stt3B-Cdg
Thrombocytopenia ORPHA:370924
Congenital Heart Block
Pericardial effusion, Patent ductus arteriosus, Pallor, Endocardial fibroelastosis, Intrauterine ... ORPHA:60041
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612925
Optic Atrophy 1
Pallor OMIM:165500
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Thrombocytopenia, Anemia, Neutropenia OMIM:614520
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Pallor, Poikilocyto... OMIM:615631
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Sideroblastic anemia, Hypertrophic cardiomyopathy, Pallor OMIM:613561
Breath-Holding Spells
Iron deficiency anemia, Pallor OMIM:607578
3-Methylglutaconic Aciduria, Type Viia
Anisopoikilocytosis, Anemia, Neutropenia OMIM:619835
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde... ORPHA:3226
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia OMIM:615597
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... OMIM:603554
Neonatal Lupus Erythematosus
Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia ORPHA:398124
Preeclampsia
Thrombocytopenia ORPHA:275555
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia ORPHA:90045
Thrombocytopenia 6
Thrombocytopenia OMIM:616937
Macrophage Activation Syndrome
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cell count, Thromboc... ORPHA:158061
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Thrombocytopenia OMIM:613987
Relapsing Fever
Neutrophilia, Leukocytosis, Anemia, Leukopenia, Thrombocytopenia ORPHA:91547
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Intermediate Osteopetrosis
Thrombocytopenia, Anemia, Hepatosplenomegaly ORPHA:210110
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Tularemia
Brain abscess, Leukocytosis, Anemia, Thrombocytopenia, Cutaneous abscess ORPHA:3392
X-Linked Sideroblastic Anemia
Splenomegaly, Pallor, Anemia ORPHA:75563
Immunodeficiency 7
Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia, Neutropenia OMIM:615387
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... ORPHA:231214
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:259710
Von Willebrand Disease, Type 3
Impaired platelet aggregation, Thrombocytopenia OMIM:277480
Congenital Rubella Syndrome
Splenomegaly, Thrombocytopenia, Anemia ORPHA:290
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... ORPHA:169154
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Leukopenia, Thrombocytopenia, Pancytopenia, Anemia OMIM:613845
Methylmalonic Aciduria, Cblb Type
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia OMIM:251110
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... ORPHA:331206
Pseudo-Torch Syndrome 3
Leukocytosis, Congenital thrombocytopenia, Anemia OMIM:618886
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Normochromic anemia, Thrombocytopenia, Neutropenia OMIM:614857
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Thrombocytopenia, Hepatosplenomegaly ORPHA:210136
Blue Rubber Bleb Nevus
Iron deficiency anemia, Thrombocytopenia OMIM:112200
Proteasome-Associated Autoinflammatory Syndrome 2
B lymphocytopenia, Increased CD4:CD8 ratio, Decreased proportion of memory B cells, Thrombocytopenia OMIM:618048
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr... ORPHA:2686
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Portal Hypertension, Noncirrhotic, 2
Splenomegaly, Thrombocytopenia OMIM:619463
Maturity-Onset Diabetes Of The Young, Type 14
Elevated hemoglobin A1c OMIM:616511
Propionic Acidemia
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia OMIM:606054
Immunodeficiency 67
Transient neutropenia, Liver abscess OMIM:607676
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia OMIM:605432
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia ORPHA:292
Beemer-Ertbruggen Syndrome
Thrombocytopenia ORPHA:1237
Acute Promyelocytic Leukemia
Pancytopenia, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia ORPHA:520
Drug-Induced Lupus Erythematosus
Thrombocytopenia, Anemia ORPHA:231111
Fetal Gaucher Disease
Splenomegaly, Abnormality of the spleen, Pancytopenia, Thrombocytopenia ORPHA:85212
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia ORPHA:2643
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro... ORPHA:158048
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Thrombocytopenia OMIM:616577
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... OMIM:618278
Sengers Syndrome
Thrombocytopenia OMIM:212350
Gaucher Disease, Type I
Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:230800
Transcobalamin Ii Deficiency
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia OMIM:275350
X-Linked Agammaglobulinemia
Thrombocytopenia, Recurrent cutaneous abscess formation, Anemia, Neutropenia ORPHA:47
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Thrombocytopenia, Splenomegaly, Neutropenia, Leukopeni... OMIM:214500
Stormorken Syndrome
Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Griscelli Syndrome Type 2
Splenomegaly, Pancytopenia, Hemophagocytosis, Neutropenia ORPHA:79477
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Thrombocytopenia, Neutropenia OMIM:251000
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce... OMIM:619705
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... ORPHA:2330
Felty Syndrome
Splenomegaly, Anemia, Neutropenia, Abnormal lymphocyte morphology, Thrombocytopenia ORPHA:47612
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia OMIM:614074
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Castleman Disease
Decreased mean corpuscular volume, Thrombocytopenia, Anemia ORPHA:160
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:274150
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... OMIM:260400
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Leukocytosis, Anemia ORPHA:90060
Griscelli Syndrome
Splenomegaly, Leukopenia, Thrombocytopenia, Abnormality of neutrophils ORPHA:381
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome... OMIM:612541
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Wolfram Syndrome 1
Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia OMIM:222300
Immunodeficiency 22
Decreased proportion of CD4-positive helper T cells, Thrombocytopenia, Abscess, Anemia OMIM:615758
Cyclic Vomiting Syndrome
Cardiomyopathy, Pallor OMIM:500007
Boutonneuse Fever
Leukopenia, Thrombocytopenia ORPHA:83313
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Leukopenia, Neutropenia, Thrombocytopenia OMIM:613989
Immunodeficiency 40
T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia OMIM:616433
Fanconi Anemia, Complementation Group E
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:600901
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Thrombocytopenia, Anemia ORPHA:3322
Hepatoportal Sclerosis
Hypersplenism, Splenomegaly, Anemia, Leukopenia, Thrombocytopenia ORPHA:64743
Dengue Fever
Leukopenia, Thrombocytopenia ORPHA:99828
Cog4-Cdg
Thrombocytopenia, Hepatosplenomegaly ORPHA:263501
Thrombocytopenia 1
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia OMIM:313900
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:235400
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Neutropenia, Lymphopenia, Anemia ORPHA:508542
Acute Radiation Syndrome
Lymphopenia, Granulocytopenia, Thrombocytopenia ORPHA:454831
Vexas Syndrome
Macrocytic anemia, Thrombocytopenia OMIM:301054
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Pallor ORPHA:276556
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis OMIM:266140
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Evans Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... ORPHA:1959
Rheumatic Fever
Pericarditis, Abnormal heart valve morphology, Myocarditis, Erythema, Endocarditis, Abnormal aort... ORPHA:3099
Good Syndrome
Abnormal leukocyte morphology, Thrombocytopenia, Anemia ORPHA:169105
Fanconi Anemia, Complementation Group A
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:227650
Methylmalonic Aciduria, Cbla Type
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia OMIM:251100
Anemia, Sideroblastic, 1
Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro... OMIM:300751
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Pallor ORPHA:276575
Cholesteryl Ester Storage Disease
Bone-marrow foam cells, Hypersplenism, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Leukop... OMIM:278000
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Pallor ORPHA:276580
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:263400
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Hypochromic microcytic anemia, Thrombocytopenia ORPHA:3240
Acquired Purpura Fulminans
Thrombocytopenia ORPHA:49566
Familial Hemophagocytic Lymphohistiocytosis
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia ORPHA:540
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Hemolytic anemia, Thrombocytopenia ORPHA:169090
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N... ORPHA:572
Holocarboxylase Synthetase Deficiency
Thrombocytopenia ORPHA:79242
Transaldolase Deficiency
Pancytopenia, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:606003
Prolidase Deficiency
Splenomegaly, Thrombocytopenia, Anemia OMIM:170100
Congenital Disorder Of Glycosylation, Type Ih
Thrombocytopenia, Anemia OMIM:608104
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Thrombocytopenia ORPHA:83601
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Megaloblastic anemia, Anemia, Neutropenia, Thrombocytopenia OMIM:277380
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Pallor, Hypochromic anemia, Erythro... OMIM:600462
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Thrombocytopenia, Lymphopenia, Anemia OMIM:617591
Hemophagocytic Lymphohistiocytosis, Familial, 1
Splenomegaly, Anemia, Leukopenia, Hemophagocytosis, Thrombocytopenia OMIM:267700
Developmental And Epileptic Encephalopathy 66
Anemia, Neutropenia OMIM:618067
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, He... ORPHA:79124
Pyruvate Kinase Deficiency Of Red Cells
Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kinase level, Sple... OMIM:266200
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Hereditary Spherocytosis
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero... ORPHA:822
Osteopetrosis, Autosomal Recessive 1
Splenomegaly, Thrombocytopenia, Pancytopenia, Anemia OMIM:259700
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Gaucher Disease Type 1
Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Thrombocytopenia ORPHA:77259
Necrotizing Enterocolitis
Leukocytosis, Thrombocytopenia, Neutropenia ORPHA:391673
Diamond-Blackfan Anemia 11
Anemia of inadequate production, Neutropenia OMIM:614900
Wilson Disease
Splenomegaly, Thrombocytopenia, Anemia ORPHA:905
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... OMIM:614700
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Splenomegaly, Hepatosplenomegaly, Anemia, Leukopenia, Hemophagocytosis, Thrombocyto... OMIM:603553
Maternal Uniparental Disomy Of Chromosome 6
Thrombocytopenia ORPHA:96181
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Pallor, Neutropenia, Atrial septal defect, Intrauterine growth retarda... OMIM:609053
Shwachman-Diamond Syndrome 2
Normocytic anemia, Thrombocytopenia, Neutropenia OMIM:617941
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Normochromic anemia, Thrombocytopenia OMIM:618775
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Impaired ADP-induced plate... OMIM:608233
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Lymphopenia, Neutropenia OMIM:614868
Schimke Immunoosseous Dysplasia
Pancytopenia, Abnormal T cell morphology, Anemia, Neutropenia, Lymphopenia, Thrombocytopenia OMIM:242900
Ebola Hemorrhagic Fever
Leukopenia, Lymphopenia, Thrombocytopenia ORPHA:319218
Combined Oxidative Phosphorylation Deficiency 14
Thrombocytopenia, Anemia OMIM:614946
Abcd Syndrome
Polycythemia OMIM:600501
Braddock-Carey Syndrome 1
Thrombocytopenia OMIM:619980
Mitochondrial Complex I Deficiency, Nuclear Type 20
Thrombocytopenia OMIM:611126
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Ivic Syndrome
Leukocytosis, Thrombocytopenia ORPHA:2307
Snakebite Envenomation
Thrombocytopenia ORPHA:449285
Fanconi Anemia, Complementation Group C
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:227645
Alg8-Cdg
Thrombocytopenia, Anemia ORPHA:79325
Retinitis Pigmentosa 51
Pallor OMIM:613464
Dyskeratosis Congenita, Autosomal Dominant 3
Leukopenia, Pancytopenia, Aplastic anemia, Thrombocytopenia OMIM:613990
Lig4 Syndrome
Acute lymphoblastic leukemia, Pancytopenia, Thrombocytopenia OMIM:606593
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Thrombocytopenia OMIM:617710
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Immunodeficiency With Hyper-Igm, Type 1
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Neutropenia OMIM:308230
Zika Virus Disease
Thrombocytopenia ORPHA:448237
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Neutropenia, Hypoplastic... OMIM:557000
Idiopathic Pulmonary Hemosiderosis
Iron deficiency anemia, Cardiomegaly, Pallor, Hepatosplenomegaly ORPHA:99931
Mirage Syndrome
Anemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Thrombocytopenia OMIM:617053
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia OMIM:619752
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Mevalonic Aciduria
Normocytic hypoplastic anemia, Fluctuating splenomegaly, Leukocytosis, Hepatosplenomegaly, Anemia... OMIM:610377
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Dravet Syndrome
Pallor ORPHA:33069
Schimke Immuno-Osseous Dysplasia
Thrombocytopenia, Decreased proportion of naive CD8 T cells, Abnormal proportion of naive CD4 T c... ORPHA:1830
Cold Agglutinin Disease
Splenomegaly, Hemolytic anemia, Pallor ORPHA:56425
Developmental Delay, Hypotonia, And Impaired Language
Neutropenia OMIM:620012
Barth Syndrome
Cyclic neutropenia, Granulocytopenia, Hypochromic microcytic anemia, Neutropenia OMIM:302060
Pediatric Systemic Lupus Erythematosus
Leukopenia, Lymphopenia, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:93552
Smith-Kingsmore Syndrome
Thrombocytopenia OMIM:616638
Mucopolysaccharidosis-Plus Syndrome
Splenomegaly, Anemia, Leukopenia, Neutropenia, Thrombocytopenia OMIM:617303
American Trypanosomiasis
Myocarditis, Splenomegaly, Pallor, Cardiomyopathy ORPHA:3386
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia, Pallor ORPHA:90037
Hellp Syndrome
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Microangiopathic hemolytic... ORPHA:244242
Dyskeratosis Congenita, Autosomal Recessive 1
Pancytopenia, Aplastic anemia, Thrombocytopenia OMIM:224230
Catastrophic Antiphospholipid Syndrome
Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:464343
Fetal And Neonatal Alloimmune Thrombocytopenia
Neonatal alloimmune thrombocytopenia ORPHA:853
Pseudo-Torch Syndrome 2
Thrombocytopenia OMIM:617397
Sepsis In Premature Infants
Splenomegaly, Leukocytosis, Anemia, Neutropenia, Thrombocytopenia ORPHA:90051
Congenital Disorder Of Glycosylation, Type Iil
Splenomegaly, Pancytopenia, Thrombocytopenia OMIM:614576
Overlap Myositis
Leukopenia, Thrombocytopenia ORPHA:206572
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor, Anemia OMIM:246450
Fanconi Anemia, Complementation Group F
Leukopenia, Thrombocytopenia, Anemia OMIM:603467
Recon Progeroid Syndrome
Thrombocytopenia, Anemia OMIM:620370
Eisenmenger Syndrome
Iron deficiency anemia, Brain abscess, Increased mean corpuscular volume, Hypochromic microcytic ... ORPHA:97214
Avian Influenza
Leukopenia, Lymphopenia, Thrombocytopenia ORPHA:454836
3-Methylglutaconic Aciduria, Type Viib
Leukopenia, Thrombocytopenia, Neutropenia OMIM:616271
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Pallor, Poikilocytosis, Fava bean-indu... OMIM:300908
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic microcytic an... OMIM:259720
Myelofibrosis
Splenomegaly, Pallor, Myeloproliferative disorder, Purpura OMIM:254450
Pediatric-Onset Graves Disease
Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia ORPHA:525731
Holocarboxylase Synthetase Deficiency
Thrombocytopenia OMIM:253270
Pseudo-Torch Syndrome 1
Splenomegaly, Thrombocytopenia OMIM:251290
Diamond-Blackfan Anemia 21
Erythroid hypoplasia, Thrombocytopenia, Anemia OMIM:620072
Autoinflammatory Disease, Systemic, X-Linked
Neutropenia, B lymphocytopenia, Hepatosplenomegaly OMIM:301081
Gaucher Disease, Type Ii
Splenomegaly, Thrombocytopenia, Anemia OMIM:230900
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Pancytopenia, Thrombocytopenia, Splenomegaly, Vacuolated lymphocyt... ORPHA:167
Thymoma
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis ORPHA:99867
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Elliptocytosis, Pallor OMIM:611804
Pgm3-Cdg
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... ORPHA:443811
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Pallor ORPHA:90036
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... ORPHA:906
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Normochromic anemia, Thrombocytopenia OMIM:254900
Autoimmune Hemolytic Anemia, Warm Type
Splenomegaly, Autoimmune hemolytic anemia, Pallor, Chronic lymphatic leukemia ORPHA:90033
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Leukopenia, Thrombocytopenia OMIM:301056
Fanconi Anemia, Complementation Group B
Aplastic anemia, Thrombocytopenia OMIM:300514
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Leukocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:90038
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased red... OMIM:194380
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce... ORPHA:274
Tangier Disease
Thrombocytopenia, Anemia, Hepatosplenomegaly ORPHA:31150
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
HbH hemoglobin ORPHA:423479
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla... OMIM:250250
Congenital Disorder Of Glycosylation, Type Iig
Thrombocytopenia, Giant platelets, Anemia OMIM:611209
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:277400
Plummer-Vinson Syndrome
Iron deficiency anemia, Pallor, Hypochromic microcytic anemia ORPHA:54028
Acyl-Coa Dehydrogenase 9 Deficiency
Thrombocytopenia ORPHA:99901
Acute Generalized Exanthematous Pustulosis
Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia ORPHA:293173
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Neutropenia OMIM:617827
Mitochondrial Complex I Deficiency, Nuclear Type 33
Neutropenia OMIM:618253
Aicardi-Goutieres Syndrome 1
Splenomegaly, Thrombocytopenia OMIM:225750
Adams-Oliver Syndrome
Leukopenia, Thrombocytopenia ORPHA:974
Lysinuric Protein Intolerance
Splenomegaly, Anemia, Leukopenia, Hemophagocytosis, Thrombocytopenia OMIM:222700
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Thrombocytopenia OMIM:208085
Irida Syndrome
Pallor ORPHA:209981
Combined Oxidative Phosphorylation Deficiency 55
Thrombocytopenia, Anemia OMIM:619743
Kaposiform Lymphangiomatosis
Splenomegaly, Hepatosplenomegaly, Anemia, Abnormal spleen morphology, Thrombocytopenia ORPHA:464329
Immunodeficiency 23
Hemolytic anemia, Abscess, Eosinophilia, Neutropenia, Lymphopenia OMIM:615816
Noonan Syndrome 4
Thrombocytopenia OMIM:610733
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... ORPHA:391487
Autosomal Agammaglobulinemia
Neutropenia ORPHA:33110
Fanconi Anemia, Complementation Group D2
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:227646
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Neutropenia, Microcytic anemia OMIM:251900
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Methylmalonic Acidemia With Homocystinuria Type Cblf
Neutropenia, Megaloblastic anemia ORPHA:79284
Gaucher Disease, Perinatal Lethal
Splenomegaly, Thrombocytopenia, Anemia, Hepatosplenomegaly OMIM:608013
Lathosterolosis
Thrombocytopenia, Anisopoikilocytosis, Abnormal platelet morphology ORPHA:46059
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Neutropenia OMIM:616395
Cohen Syndrome
Leukopenia, Neutropenia OMIM:216550
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Pallor ORPHA:263455
Toxic Epidermal Necrolysis
Thrombocytopenia, Anemia, Neutropenia ORPHA:537
3-Hydroxy-3-Methylglutaric Aciduria
Leukocytosis, Dilated cardiomyopathy, Leukopenia, Pallor, Thrombocytosis, Anemia ORPHA:20
Alport Syndrome 1, X-Linked
Thrombocytopenia OMIM:301050
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Splenomegaly, Leukopenia, Thrombocytopenia OMIM:300972
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope... ORPHA:447
Stevens-Johnson Syndrome
Anemia, Thrombocytopenia, Abnormality of neutrophils ORPHA:36426
Waldenström Macroglobulinemia
Normocytic anemia, Abnormality of neutrophils, Splenomegaly, Pallor, Leukemia, Purpura ORPHA:33226
Ivic Syndrome
Leukocytosis, Thrombocytopenia OMIM:147750
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Neutropenia ORPHA:1667
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Thrombocytopenia OMIM:612394
21Q22.11Q22.12 Microdeletion Syndrome
Thrombocytopenia, Anemia ORPHA:261323
Farber Disease
Thrombocytopenia, Anemia, Hepatosplenomegaly ORPHA:333
Shigellosis
Abscess, Leukocytosis, Microangiopathic hemolytic anemia, Splenic abscess, Thrombocytopenia ORPHA:810
Agammaglobulinemia 1, Autosomal Recessive
Rectal abscess, B lymphocytopenia, Neutropenia OMIM:601495
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Thrombocytopenia ORPHA:457351
Lead Poisoning
Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology ORPHA:330015
Gaucher Disease Type 3
Splenomegaly, Thrombocytopenia, Pancytopenia, Anemia ORPHA:77261
Bacterial Toxic-Shock Syndrome
Increased circulating metamyelocyte count, Abscess, Increased circulating myelocyte count, Thromb... ORPHA:36234
Thrombocytopenia-Absent Radius Syndrome
Thrombocytopenia ORPHA:3320
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Splenomegaly, Thrombocytopenia OMIM:251880
Atelis Syndrome 2
Thrombocytopenia, Anemia OMIM:620185
Retinitis Pigmentosa 75
Pallor OMIM:617023
Lujo Hemorrhagic Fever
Leukopenia, Leukocytosis, Lymphopenia, Thrombocytopenia ORPHA:319213
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Increased mean platelet volume OMIM:616737
Beta-Ketothiolase Deficiency
Thrombocytosis, Leukocytosis, Pallor ORPHA:134
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Leukopenia, Poikilocytosis, Erythr... ORPHA:79277
3-Methylglutaconic Aciduria Type 7
Infection associated neutropenia, Neutropenia ORPHA:445038
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Thrombocytopenia, Anemia OMIM:612199
Tay-Sachs Disease
Pallor OMIM:272800
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Thrombocytopenia OMIM:619005
Q Fever
Splenomegaly, Hepatosplenomegaly, Anemia, Granuloma, Thrombocytopenia ORPHA:781
Aspergillosis
Eosinophilia, Neutropenia ORPHA:1163
Wars2-Related Combined Oxidative Phosphorylation Defect
Thrombocytopenia ORPHA:572798
Bare Lymphocyte Syndrome, Type Ii
Neutropenia OMIM:209920
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Systemic Lupus Erythematosus
Leukopenia, Hemolytic anemia, Thrombocytopenia ORPHA:536
Porphyria, Congenital Erythropoietic
Splenomegaly, Hemolytic anemia, Thrombocytopenia OMIM:263700
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Anemia ORPHA:847
Non-Functioning Pituitary Adenoma
Pallor, Anemia of inadequate production ORPHA:91349
Hermansky-Pudlak Syndrome 10
Splenomegaly, Neutropenia OMIM:617050
Myopathy, Mitochondrial, And Ataxia
Pallor OMIM:617675
Idiopathic Hypereosinophilic Syndrome
Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Mye... ORPHA:3260
Mogs-Cdg
Thrombocytopenia, Hepatosplenomegaly ORPHA:79330
Adenohypophysitis
Normochromic anemia, Pallor ORPHA:95512
Rift Valley Fever
Thrombocytopenia, Anemia ORPHA:319251
Nijmegen Breakage Syndrome
T lymphocytopenia, Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia OMIM:251260
Poikiloderma With Neutropenia
Splenomegaly, Leukopenia, Neutropenia OMIM:604173
Caroli Syndrome
Liver abscess, Hypersplenism, Leukocytosis, Leukopenia, Thrombocytopenia ORPHA:480520
Fructose-1,6-Bisphosphatase Deficiency
Pallor ORPHA:348
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Leukopenia, Thrombocytopenia, Anemia, Hepatosplenomegaly ORPHA:505248
Senior-Loken Syndrome 8
Pallor OMIM:616307
Fumarase Deficiency
Perimembranous ventricular septal defect, Polycythemia, Pallor OMIM:606812
Panhypophysitis
Normochromic anemia, Pallor ORPHA:95513
Childhood Absence Epilepsy
Pallor ORPHA:64280
Kikuchi-Fujimoto Disease
Splenomegaly, Anemia, Leukopenia, Lymphocytosis, Neutropenia, Thrombocytopenia ORPHA:50918
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Severe B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia OMIM:620005
Autosomal Recessive Malignant Osteopetrosis
Abnormal pulmonary valve morphology, Splenomegaly, Pulmonary artery stenosis, Hydrocephalus, Pall... ORPHA:667
Pituitary Apoplexy
Normochromic anemia, Pallor ORPHA:95613
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pa... ORPHA:99125
Degcags Syndrome
Pancytopenia, Ventricular septal defect, Congenital hypoplastic anemia, Patent ductus arteriosus,... OMIM:619488
Sheehan Syndrome
Normochromic anemia, Dry skin, Pallor ORPHA:91355
Dubowitz Syndrome
Acute lymphoblastic leukemia, Thrombocytopenia, Anemia, Abnormality of neutrophils ORPHA:235
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Neutropenia, Thrombocytopenia, Megaloblastic anemia ORPHA:79282
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Anemia, Leukopenia, Elliptocytosis, Thrombocytopenia ORPHA:2785
Dyskeratosis Congenita
Anemia, Thrombocytopenia, Abnormality of neutrophils, Splenomegaly ORPHA:1775
Brucellosis
Liver abscess, Lung abscess, Hypersplenism, Thrombocytopenia, Leukocytosis, Splenomegaly, Leukope... ORPHA:1304
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... OMIM:619573
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Thrombocytopenia, Acute leukemia ORPHA:647
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia in presence o... ORPHA:37042
Agammaglobulinemia, X-Linked
T lymphocytopenia, B lymphocytopenia, Anemia, Neutropenia OMIM:300755
Spondyloenchondrodysplasia With Immune Dysregulation
T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Neutropenia OMIM:607944
Tick-Borne Encephalitis
Leukopenia, Leukocytosis, Thrombocytopenia ORPHA:297
Histiocytoid Cardiomyopathy
Hydrocephalus, Ventricular septal defect, Pallor, Cardiomegaly ORPHA:137675
Fibular Hemimelia
Thrombocytopenia ORPHA:93323
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia OMIM:615846
Incontinentia Pigmenti
Leukocytosis, Erythema, Eosinophilia, Pallor OMIM:308300
Pearson Syndrome
Reticulocytosis, Pancytopenia, Splenomegaly, Anemia, Neutropenia, Hypoplastic spleen, Thrombocyto... ORPHA:699
Alg12-Cdg
B lymphocytopenia, Thrombocytopenia ORPHA:79324
Esophageal Atresia
Tetralogy of Fallot, Ventricular septal defect, Pallor, Coarctation of aorta ORPHA:1199
Neuroleptic Malignant Syndrome
Thrombocytosis, Leukocytosis, Thrombocytopenia ORPHA:94093
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Thrombocytopenia, Anemia ORPHA:163979
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Neutropenia OMIM:618005
Alternating Hemiplegia Of Childhood
Cardiomyopathy, Pallor ORPHA:2131
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Splenomegaly, Thrombocytopenia OMIM:301072
Wilson Disease
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Anemia OMIM:277900
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Prolactinoma
Pallor ORPHA:2965
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Anemia, Leukopenia, Thrombocytopenia OMIM:305000
Fusariosis
Brain abscess, Lung abscess, Abnormality of the spleen, Granuloma, Neutropenia, Lymphopenia ORPHA:228119
Insulin-Resistance Syndrome Type B
Leukopenia, Thrombocytopenia ORPHA:2298
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Neutropenia OMIM:615471
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Thrombocytopenia ORPHA:464321
Khan-Khan-Katsanis Syndrome
Lymphopenia, Anemia, Neutropenia OMIM:618460
Deeah Syndrome
Decreased hemoglobin concentration, Thrombocytopenia OMIM:619004
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Leukocytosis, Brain abscess, Thrombocytopenia ORPHA:544482
Primary Sjögren Syndrome
Normocytic anemia, Leukopenia, Normochromic anemia, Decreased proportion of CD4-positive helper T... ORPHA:289390
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:274000
Lysinuric Protein Intolerance
Hepatosplenomegaly, Anemia, Leukopenia, Hemophagocytosis, Thrombocytopenia ORPHA:470
Whim Syndrome
Lymphopenia, Abnormal neutrophil morphology, Neutropenia ORPHA:51636
Jacobsen Syndrome
Thrombocytopenia OMIM:147791
Rothmund-Thomson Syndrome
Leukemia, Aplastic anemia, Anemia, Neutropenia ORPHA:2909
Hemorrhagic Fever-Renal Syndrome
Thrombocytopenia, Leukocytosis, Anemia ORPHA:340
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor, Anemia ORPHA:329971
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thrombocytopenia, Increased mean platelet volume ORPHA:487796
Marburg Hemorrhagic Fever
Lymphopenia, Reticulocytosis, Neutrophilia in presence of infection, Leukopenia, Abnormal lymphoc... ORPHA:99826
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia ORPHA:2072
Von Hippel-Lindau Disease
Myocarditis, Cardiomyopathy, Polycythemia, Pallor ORPHA:892
Leigh Syndrome
Anemia, Neutropenia ORPHA:506
Rothmund-Thomson Syndrome Type 1
Leukemia, Aplastic anemia, Anemia, Neutropenia ORPHA:221008
Tsh-Secreting Pituitary Adenoma
Pericardial effusion, Pallor ORPHA:91347
Cornelia De Lange Syndrome 1
Thrombocytopenia OMIM:122470
Vici Syndrome
Leukopenia, T lymphocytopenia, Neutropenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:242840
Trichothiodystrophy
Increased mean corpuscular hemoglobin concentration, Anemia, Neutropenia ORPHA:33364
Gaucher Disease
Splenomegaly, Thrombocytopenia, Pancytopenia, Anemia ORPHA:355
Congenital Disorder Of Glycosylation, Type Iiw
Splenomegaly, Thrombocytopenia, Anemia, Microcytic anemia OMIM:619525
Glycogen Storage Disease Ib
Splenomegaly, Neutropenia OMIM:232220
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Leukopenia, Anemia, Thrombocytopenia ORPHA:84
Cohen Syndrome
Neutropenia ORPHA:193
Rothmund-Thomson Syndrome Type 2
Leukemia, Aplastic anemia, Anemia, Neutropenia ORPHA:221016
Chronic Visceral Acid Sphingomyelinase Deficiency
Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Acute promyelocytic leukemia, Thrombocy... ORPHA:77293
Yellow Fever
Leukocytosis, Neutrophilia, Thrombocytopenia ORPHA:99829
Roberts Syndrome
Thrombocytopenia ORPHA:3103
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Neutrophilia, Splenomegaly, Leukocytosis, Leukopenia, Thrombocytopenia ORPHA:99827
Hermansky-Pudlak Syndrome
Abnormality of thrombocytes, Neutropenia ORPHA:79430
Cartilage-Hair Hypoplasia
Anemia, Neutropenia ORPHA:175
Jacobsen Syndrome
Thrombocytopenia ORPHA:2308
Ogden Syndrome
Iron deficiency anemia, Polycythemia, Thrombocytopenia OMIM:300855
Intellectual Developmental Disorder, Autosomal Dominant 54
Neutropenia OMIM:617799
Sarcoidosis
Hemolytic anemia, Eosinophilia, Increased T cell count, Anemia, Leukopenia, Thrombocytopenia ORPHA:797
Igg4-Related Dacryoadenitis And Sialadenitis
Thrombocytopenia ORPHA:79078
Oculocerebrorenal Syndrome Of Lowe
Anemia, Thrombocytopenia ORPHA:534
Autosomal Recessive Polycystic Kidney Disease
Hypersplenism, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly ORPHA:731
Multiple Endocrine Neoplasia Type 2
Pallor ORPHA:653
Exercise-Induced Malignant Hyperthermia
Thrombocytopenia ORPHA:466650
Proteasome-Associated Autoinflammatory Syndrome 1
Splenomegaly, Thrombocytopenia, Microcytic anemia OMIM:256040
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Neutropenia OMIM:271510
Hardikar Syndrome
Hypersplenism, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly OMIM:301068
22Q11.2 Deletion Syndrome
Splenomegaly, Hypoplasia of the thymus, Abnormality of thrombocytes, Thrombocytopenia ORPHA:567
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Pallor OMIM:253280
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Chronic lymphatic leukemia, Hepatosplenomegaly ORPHA:51
X-Linked Intellectual Disability, Nascimento Type
Recurrent cutaneous abscess formation, Neutropenia ORPHA:163956
Liver Disease, Severe Congenital
Thrombocytopenia, Splenomegaly, Leukopenia, Lymphocytosis, Anemia OMIM:619991
Acute Liver Failure
Thrombocytopenia ORPHA:90062
3-Methylglutaconic Aciduria, Type Viii
Neutropenia OMIM:617248
Leptospirosis
Thrombocytopenia ORPHA:509
Digeorge Syndrome
Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus, Anemia OMIM:188400
Osteogenesis Imperfecta
Thrombocytopenia ORPHA:666
Zygomycosis
Brain abscess, Splenic abscess, Neutropenia ORPHA:73263
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia OMIM:163950
Goodpasture Syndrome
Pallor, Anemia OMIM:233450
Aspartylglucosaminuria
Vacuolated lymphocytes, Neutropenia OMIM:208400
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anemia, Neutropenia ORPHA:95455
Sponastrime Dysplasia
Neutropenia ORPHA:93357

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 Lmo2

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 Lmo2.

No publications found that use IMPC mice or data for Lmo2.

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
Lmo2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Lmo2tm231534(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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