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Gene: Zswim1 MGI:1919221

Gene Summary

Name:

zinc finger SWIM-type containing 1

Synonyms:

2410003H12Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
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.

Phenotype	Allele	Zyg	Life Stage	P Value
increased monocyte cell number	Zswim1^{tm1b(KOMP)Mbp}	HOM	Early adult	2.02×10^-14
increased lean body mass	Zswim1^{tm1b(KOMP)Mbp}	HOM	Early adult	2.63×10^-05
increased eosinophil cell number	Zswim1^{tm1b(KOMP)Mbp}	HOM	Early adult	0.00
increased lymphocyte cell number	Zswim1^{tm1b(KOMP)Mbp}	HOM	Early adult	6.14×10^-09
increased erythrocyte cell number	Zswim1^{tm1b(KOMP)Mbp}	HOM	Early adult	1.71×10^-07
increased neutrophil cell number	Zswim1^{tm1b(KOMP)Mbp}	HOM	Early adult	1.19×10^-26
increased red blood cell distribution width	Zswim1^{tm1b(KOMP)Mbp}	HOM	Early adult	2.53×10^-14
increased basophil cell number	Zswim1^{tm1b(KOMP)Mbp}	HOM	Early adult	0.00
decreased monocyte cell number	Zswim1^{tm1b(KOMP)Mbp}	HOM	Early adult	1.92×10^-08
increased leukocyte cell number	Zswim1^{tm1b(KOMP)Mbp}	HOM	Early adult	3.96×10^-10
decreased mean corpuscular volume	Zswim1^{tm1b(KOMP)Mbp}	HOM	Early adult	2.76×10^-18
decreased hematocrit	Zswim1^{tm1b(KOMP)Mbp}	HOM	Early adult	1.04×10^-06
increased mean corpuscular hemoglobin concentration	Zswim1^{tm1b(KOMP)Mbp}	HOM	Early adult	8.54×10^-05
increased mean platelet volume	Zswim1^{tm1b(KOMP)Mbp}	HOM	Early adult	3.14×10^-10
decreased lymphocyte cell number	Zswim1^{tm1b(KOMP)Mbp}	HOM	Early adult	3.70×10^-11
decreased mean corpuscular hemoglobin	Zswim1^{tm1b(KOMP)Mbp}	HOM	Early adult	6.75×10^-09

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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 Zswim1 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 Zswim1 (0 diseases)
Human diseases predicted to be associated with Zswim1 (558 diseases)

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

The table below shows human diseases predicted to be associated to Zswim1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia	ORPHA:517
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Immunodeficiency 88	Eosinophilia	OMIM:619630
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity	OMIM:616871
Carbimazole Sensitivity	Drug-induced agranulocytosis	OMIM:212060
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt...	OMIM:614470
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Bleeding Disorder, Platelet-Type, 16	Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat...	OMIM:187800
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Failur...	OMIM:226990
Hemoglobin E-Beta-Thalassemia Syndrome	Abnormal hemoglobin, Anemia	ORPHA:231249
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Ichthyosis-Prematurity Syndrome	Eosinophilia	ORPHA:88621
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder	OMIM:131440
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Lymphopenia	OMIM:615615
Immunodeficiency 11A	Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells	OMIM:615206
Immunodeficiency 15B	Monocytosis, Failure to thrive, Reduced natural killer cell count	OMIM:615592
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ...	OMIM:155100
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Anemia	OMIM:619398
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Neutrophilia	OMIM:617585
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Juvenile Temporal Arteritis	Leukocytosis, Eosinophilia	ORPHA:26137
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery...	OMIM:615631
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Dysplasia Of Head Of Femur, Meyer Type	Leukocytosis	ORPHA:168621
Generalized Eruptive Histiocytosis	Leukemia, Hypereosinophilia, Histiocytosis	ORPHA:157991
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n...	OMIM:212050
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Splenomegaly, Eosinophilia	OMIM:607685
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Myh9-Related Disease	Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele...	ORPHA:182050
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Anemia, Sideroblastic, 4	Abnormal erythrocyte morphology, Sideroblastic anemia	OMIM:182170
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia	ORPHA:46532
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis	OMIM:206200
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Thrombo...	OMIM:231200
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre...	OMIM:617443
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp...	OMIM:618986
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p...	OMIM:601859
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Cinca Syndrome	Leukocytosis, Eosinophilia, Anemia, Hepatosplenomegaly	OMIM:607115
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut...	OMIM:618849
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology	OMIM:300622
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo...	OMIM:300908
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ...	OMIM:169400
Myelolymphatic Insufficiency	Leukopenia, Hyposegmentation of neutrophil nuclei	OMIM:310350
Cyclic Neutropenia	Cyclic neutropenia	OMIM:162800
Immunodeficiency 7	Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Neutropenia, Failure to thrive	OMIM:615387
Immunodeficiency 24	Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ...	OMIM:615897
Esophagitis, Eosinophilic, 1	Failure to thrive, Eosinophilia	OMIM:610247
Esophagitis, Eosinophilic, 2	Failure to thrive, Eosinophilia	OMIM:613412
Eosinophilopenia	Decreased eosinophil count	OMIM:131430
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positiv...	ORPHA:169154
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Failure to thrive, ...	OMIM:618963
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,...	ORPHA:486
Kimura Disease	Eosinophilia	ORPHA:482
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Lymphocytosis	OMIM:606445
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormal macrophage morphology, Abnormality of neutrophils	ORPHA:2690
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Small for gestational age, Anemia of inadequate production, An...	OMIM:224120
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Failure to thrive, Neutropenia	OMIM:616022
Eosinophilic Gastroenteritis	Leukocytosis, Eosinophilia, Anemia, Weight loss	ORPHA:2070
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Whim Syndrome 2	Chronic neutropenia	OMIM:619407
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Eosinophilia, Abnormally low T cell receptor excision circle level	OMIM:618092
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega...	ORPHA:3202
Erythrocytosis, Familial, 2	Increased red blood cell mass, Failure to thrive, Increased hematocrit, Increased hemoglobin	OMIM:263400
Intrinsic Factor Deficiency	Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio...	OMIM:261000
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe...	ORPHA:232
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio...	OMIM:153670
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype...	OMIM:616860
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphop...	ORPHA:444463
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Leukemia, Anemia, Neutropenia	OMIM:614082
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Failure to...	OMIM:615285
Eosinophilic Fasciitis	Abnormal eosinophil morphology, Eosinophilia, Weight loss	ORPHA:3165
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Failure to thrive, Thrombocytopenia	OMIM:619644
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis	OMIM:247800
Wells Syndrome	Eosinophilia	ORPHA:901
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,...	OMIM:603554
Omenn Syndrome	Failure to thrive, Eosinophilia, Splenomegaly, Leukocytosis, Abnormal lymphocyte morphology, Anemia	ORPHA:39041
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias	OMIM:620044
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,...	OMIM:304790
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus	OMIM:267500
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p...	OMIM:603909
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Abcd Syndrome	Polycythemia, Large for gestational age	OMIM:600501
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl...	OMIM:617514
Immunodeficiency 11B With Atopic Dermatitis	Eosinophilia	OMIM:617638
Immunodeficiency 8 With Lymphoproliferation	Lymphopenia	OMIM:615401
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Megaloblastic anemia, Failure to thrive, Thrombocytopenia	ORPHA:90045
Immunodeficiency 25	T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia	OMIM:610163
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Eosinophilia	OMIM:253600
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Failure ...	ORPHA:331206
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly...	OMIM:210250
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Neutropenia	ORPHA:90023
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,...	ORPHA:98870
Neutropenia, Chronic Familial	Neutropenia	OMIM:162700
Tempi Syndrome	Increased hematocrit, Polycythemia	ORPHA:284227
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly	OMIM:608898
Hyperbilirubinemia, Shunt, Primary	Splenomegaly, Reticulocytosis, Anemia of inadequate production, Erythroid hyperplasia	OMIM:237800
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal...	OMIM:612690
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Orotic Aciduria	Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi...	OMIM:258900
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Eosinophilia	OMIM:618523
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno...	OMIM:617237
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Eosinophilia, Hepatosplenomegaly, Failure to thrive secondary to recurrent infections, Decreased ...	ORPHA:169160
Immunodeficiency 46	Failure to thrive, Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ...	OMIM:245480
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Glutathione Synthetase Deficiency	Hemolytic anemia, Neutropenia	OMIM:266130
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Eosinophilia, Cutaneous abscess	OMIM:147060
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology	ORPHA:724
Immunodeficiency 60 And Autoimmunity	Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count	OMIM:618394
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia	OMIM:185050
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia	OMIM:612527
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia	OMIM:242870
Folate Malabsorption, Hereditary	Folate-responsive megaloblastic anemia, Leukopenia, Neutropenia, Failure to thrive, Thrombocytopenia	OMIM:229050
Autoinflammation, Immune Dysregulation, And Eosinophilia	Failure to thrive, Eosinophilia, Hepatosplenomegaly	OMIM:618999
O'Sullivan-Mcleod Syndrome	Eosinophilia	ORPHA:99965
Peeling Skin Syndrome 1	Eosinophilia	OMIM:270300
Acute Erythroid Leukemia	Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia	ORPHA:318
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome...	ORPHA:71275
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Idiopathic Chronic Eosinophilic Pneumonia	Leukocytosis, Hypereosinophilia, Weight loss	ORPHA:2902
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Failure to thrive, Anisocytosis	OMIM:604273
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:615715
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis	OMIM:179700
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Failure to thrive, Aplasia of the thymus, Eosinophilia, Splenomegaly, B lymphocytopenia, Abnormal...	OMIM:602450
Immunodeficiency 95	Lymphopenia	OMIM:619773
Transcobalamin Deficiency	Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Neutropenia	OMIM:610798
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia	OMIM:243700
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia	OMIM:616959
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Familial Pseudohyperkalemia	Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume	ORPHA:90044
Agammaglobulinemia 3, Autosomal Recessive	Failure to thrive, Neutropenia, Absent circulating B cells, Abnormal T cell morphology	OMIM:613501
Hemophagocytic Lymphohistiocytosis, Familial, 4	Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia	OMIM:603552
Glutamate-Cysteine Ligase Deficiency	Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis	ORPHA:33574
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy...	OMIM:617780
Hypermanganesemia With Dystonia 1	Polycythemia	OMIM:613280
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Pgm3-Cdg	Hemolytic anemia, Failure to thrive, Abnormal proportion of CD8-positive T cells, Eosinophilia, A...	ORPHA:443811
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l...	OMIM:619924
Glutamate Formiminotransferase Deficiency	Hypersegmentation of neutrophil nuclei, Megaloblastic anemia	OMIM:229100
Immunodeficiency 19	T lymphocytopenia, Failure to thrive, Abnormal B cell morphology, Abnormal natural killer cell mo...	OMIM:615617
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Weight loss, Lymphocytosis, Hypochromic anemia, Anemia	ORPHA:514
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Failure to thrive, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombo...	OMIM:612541
Immunodeficiency 23	Hemolytic anemia, Failure to thrive, Abscess, Eosinophilia, Neutropenia, Lymphopenia	OMIM:615816
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Acute Peripheral Arterial Occlusion	Leukocytosis	ORPHA:90064
Autoinflammation With Arthritis And Dyskeratosis	Splenomegaly, Autoimmune hemolytic anemia, Failure to thrive, Hypereosinophilia	OMIM:617388
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Anemia, Congenital Dyserythropoietic, Type Ii	Splenomegaly, Reticulocytosis, Anemia of inadequate production	OMIM:224100
Acquired Partial Lipodystrophy	Lymphocytosis	ORPHA:79087
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Neutropenia	OMIM:615214
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Immunodeficiency 76	Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Hemochromatosis, Type 3	Lymphopenia, Anemia, Neutropenia	OMIM:604250
Roifman Syndrome	Splenomegaly, Eosinophilia	OMIM:616651
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia	OMIM:616738
Acute Generalized Exanthematous Pustulosis	Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia	ORPHA:293173
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:617243
Roifman Syndrome	Eosinophilia, Hepatosplenomegaly	ORPHA:353298
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Failu...	OMIM:102700
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Lymphopenia, Thrombocytopenia	OMIM:616744
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased proportion of CD4+C...	OMIM:619846
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	T lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618806
Bernard-Soulier Syndrome	Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce...	ORPHA:274
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:598500
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr...	ORPHA:2686
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Sterile abscess, Eosinophilia, Cutaneous abscess	OMIM:618282
Unclassified Myelodysplastic Syndrome	Acute myeloid leukemia, Leukocytosis, Bone marrow hypocellularity	ORPHA:98827
Livedoid Vasculopathy	Leukocytosis, Pancytopenia, Polycythemia, Anemia	ORPHA:542643
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Failure to thrive, Anisocytosis, Leukocytosis, Hepatosplenomeg...	OMIM:618278
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Weight loss	ORPHA:1164
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume	OMIM:185000
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Thrombocytosis, Anemia, Histiocytosis	OMIM:209950
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Systemic Lupus Erythematosus 17	Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia	OMIM:301080
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia	OMIM:613839
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Failure to thrive, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Neutropenia	OMIM:610738
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Lymphocytosis, Weight loss	ORPHA:139402
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia	ORPHA:848
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia	OMIM:603585
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr...	ORPHA:231226
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Loeffler Endocarditis	Eosinophilia, Weight loss	ORPHA:75566
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Anemia, Increased ...	OMIM:617021
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Splenomegaly, Lymphocytosis, Hemophagocytosis, Neutropenia, Thromb...	OMIM:308240
Igg4-Related Aortitis	Hypereosinophilia, Weight loss	ORPHA:449400
Phosphoglycerate Kinase 1 Deficiency	Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis	OMIM:300653
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Thrombocytopenia, Failure to thrive, Lymphocytosis, Decreased mean platelet volume	OMIM:617718
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Weight loss, Anemia	ORPHA:54251
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Increased mean corpuscular volume	OMIM:619774
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormality of thrombocytes, Splenomegaly, Leukocytosis, Hepatosple...	OMIM:612840
Schnitzler Syndrome	Splenomegaly, Leukocytosis, Anemia	ORPHA:37748
Congenital Disorder Of Glycosylation, Type Iig	Thrombocytopenia, Giant platelets, Failure to thrive in infancy, Anemia	OMIM:611209
Immunodeficiency 44	Lymphopenia	OMIM:616636
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, B lymphocytopenia, ...	OMIM:150550
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Lymphopenia, Eosinophilia	OMIM:617425
Dohle Bodies And Leukemia	Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia	OMIM:223350
Netherton Syndrome	Failure to thrive, Hypereosinophilia	OMIM:256500
Iga Pemphigus	Eosinophilia, Cutaneous abscess	ORPHA:555905
Spherocytosis, Type 4	Splenomegaly, Hemolytic anemia, Spherocytosis, Reticulocytosis	OMIM:612653
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis	OMIM:616649
Aspergillosis	Eosinophilia, Neutropenia	ORPHA:1163
Deafness-Lymphedema-Leukemia Syndrome	Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss, Myeloprolifer...	ORPHA:3226
Autoimmune Lymphoproliferative Syndrome	Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl...	ORPHA:3261
Immunodeficiency 89 And Autoimmunity	Decreased eosinophil count, Hypochromic microcytic anemia	OMIM:619632
Takenouchi-Kosaki Syndrome	Thrombocytopenia, Increased mean platelet volume	OMIM:616737
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Neutropenia, Failure to thrive	ORPHA:2169
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Syndromic Diarrhea	Small for gestational age, Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus...	ORPHA:84064
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Reduction of neutrophil motility	OMIM:266265
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Agammaglobulinemia 4, Autosomal Recessive	Neutropenia, Abnormal T cell morphology	OMIM:613502
Spinocerebellar Ataxia, Autosomal Recessive 23	Neutropenia	OMIM:616949
Immunodeficiency 92	Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt...	OMIM:619652
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Reticulocytosis	OMIM:130600
Thrombocytopenia 1	Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia	OMIM:313900
Immunodeficiency 102	Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De...	OMIM:301082
Whim Syndrome 1	Neutropenia	OMIM:193670
Bleeding Disorder, Platelet-Type, 17	Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll...	OMIM:187900
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:54057
Hereditary Methemoglobinemia	Small for gestational age, Methemoglobinemia	ORPHA:621
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,...	ORPHA:86843
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia	ORPHA:88
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia	OMIM:611490
Chronic Intestinal Pseudoobstruction	Abnormal platelet morphology	ORPHA:2978
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Absent circulating B cells	OMIM:619707
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	T lymphocytopenia, Failure to thrive, Lymphopenia, B lymphocytopenia	ORPHA:277
Poems Syndrome	Thrombocytosis, Polycythemia, Weight loss	ORPHA:2905
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Macrocytic anemia, Eosinophilia, Weight loss, Failure to thrive	ORPHA:199299
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Neutropenia	OMIM:617056
Lathosterolosis	Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hepatospleno...	OMIM:607330
Spherocytosis, Type 1	Splenomegaly, Hemolytic anemia, Spherocytosis, Reticulocytosis	OMIM:182900
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Splenomegaly, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia	ORPHA:79312
Noonan Syndrome 12	Lymphopenia, Thrombocytopenia	OMIM:618624
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Nonspherocytic hemolytic a...	OMIM:235700
Alveolar Echinococcosis	Liver abscess, Eosinophilia, Weight loss, Abnormal spleen morphology, Anemia, Cutaneous abscess	ORPHA:284
Cystic Echinococcosis	Abscess, Eosinophilia, Weight loss, Splenic cyst, Peritoneal abscess	ORPHA:400
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Megaloblastic Anemia, Folate-Responsive	Episodic hemolytic anemia, Schistocytosis, Folate-responsive megaloblastic anemia, Hypersegmentat...	OMIM:601775
Trichohepatoenteric Syndrome 1	Small for gestational age, Increased mean platelet volume, Splenomegaly, Thrombocytosis, Failure ...	OMIM:222470
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Failure...	OMIM:611590
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ...	ORPHA:86839
Primary Myelofibrosis	Pancytopenia, Extramedullary hematopoiesis, Cachexia, Thrombocytopenia, Leukocytosis, Splenomegal...	ORPHA:824
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Thrombocytopenia, Anemia, Neutropenia	ORPHA:289916
3-Methylglutaconic Aciduria, Type Viia	Anisopoikilocytosis, Anemia, Neutropenia	OMIM:619835
Harderoporphyria	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:618892
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Bone marrow hypocellulari...	OMIM:127550
Lymphangiectasia, Intestinal	Lymphopenia	OMIM:152800
Immunodeficiency With Hyper-Igm, Type 3	Neutropenia	OMIM:606843
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Thrombocytopenia, Lymphopenia, Anemia	OMIM:620365
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Neutropenia	OMIM:618752
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Relapsing Fever	Neutrophilia, Leukocytosis, Anemia, Leukopenia, Thrombocytopenia	ORPHA:91547
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ...	ORPHA:101096
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis	OMIM:611762
Autosomal Dominant Hyper-Ige Syndrome	Eosinophilia	ORPHA:2314
Pseudo-Torch Syndrome 3	Leukocytosis, Congenital thrombocytopenia, Anemia	OMIM:618886
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l...	ORPHA:158057
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kinase level, Sple...	OMIM:266200
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612562
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Bone marrow hypoc...	OMIM:301078
Von Hippel-Lindau Syndrome	Polycythemia	OMIM:193300
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Aggressive Systemic Mastocytosis	Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Weight loss, Inc...	ORPHA:98850
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Large for gestational age, Anemia, Bone marrow hypocellularity, Neutropenia, Failure to thrive, T...	OMIM:614520
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis	ORPHA:713
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia	OMIM:207731
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Mye...	ORPHA:3260
Angiostrongyliasis	Hypereosinophilia	ORPHA:74
Icf Syndrome	Anemia, Lymphopenia, Abnormality of neutrophils	ORPHA:2268
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Lymphopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision c...	OMIM:619767
Fumarase Deficiency	Failure to thrive, Polycythemia	OMIM:606812
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Splenomegaly, Leukopenia, Lymphopenia	OMIM:620210
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi...	OMIM:617052
Letterer-Siwe Disease	Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly	OMIM:246400
Bleeding Disorder, Platelet-Type, 11	Impaired collagen-induced platelet aggregation, Abnormal platelet count, Impaired ristocetin-indu...	OMIM:614201
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Increased mean corpuscular volume, Megaloblastic anemia	OMIM:277410
Immunodeficiency 85 And Autoimmunity	Failure to thrive in infancy, T lymphocytopenia, Decreased proportion of CD4-positive helper T ce...	OMIM:619510
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Stomatocytosis,...	ORPHA:288
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom...	ORPHA:231222
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Small for gestational age, Persistence of hemoglobin F, Ane...	OMIM:260400
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia	ORPHA:1116
Tularemia	Brain abscess, Leukocytosis, Anemia, Thrombocytopenia, Cutaneous abscess	ORPHA:3392
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Leukopenia, Poikilocytosis, Erythr...	ORPHA:79277
Eosinophilic Granulomatosis With Polyangiitis	Eosinophilia, Weight loss	ORPHA:183
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Weight loss, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced nat...	OMIM:301074
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Failure to thrive, HbH hemoglobin, Microcytic anemia	ORPHA:98791
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia, Weight loss	ORPHA:1302
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Lymphopenia, Neutropenia	OMIM:614868
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Diamond-Blackfan Anemia	Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, R...	ORPHA:124
Mucoepithelial Dysplasia, Hereditary	Eosinophilia	OMIM:158310
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased red...	OMIM:194380
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Splenomegaly, Polycythemia	ORPHA:309854
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Thrombocytopenia, Increased mean platelet volume	ORPHA:487796
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Failure to thrive, Pure red cell aplasia, Autoimmune thrombocytopeni...	OMIM:613179
Immunodeficiency 57 With Autoinflammation	Perianal abscess, T lymphocytopenia, B lymphocytopenia, Failure to thrive, Reduced natural killer...	OMIM:618108
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T...	OMIM:242700
Familial Cold Autoinflammatory Syndrome 1	Leukocytosis	OMIM:120100
Muckle-Wells Syndrome	Leukocytosis	OMIM:191900
Diffuse Alveolar Hemorrhage	Thrombocytopenia, Leukocytosis, Anemia, Weight loss	ORPHA:90060
Acute Promyelocytic Leukemia	Pancytopenia, Leukocytosis, Weight loss, Anemia, Leukopenia, Neutropenia, Thrombocytopenia	ORPHA:520
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal T cell morphology, Decreased p...	ORPHA:760
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Transcobalamin Ii Deficiency	Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Failure to...	OMIM:275350
Glycogen Storage Disease Vii	Hemolytic anemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Reticulocytosis	OMIM:232800
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Hepatosplenomegaly, Impaired oxidative...	OMIM:618935
Incontinentia Pigmenti	Leukocytosis, Eosinophilia	OMIM:308300
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce...	OMIM:619705
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia	OMIM:614204
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F, Overweight	OMIM:619769
Essential Thrombocythemia	Splenomegaly, Abnormality of thrombocytes, Abnormal platelet morphology, Acute leukemia	ORPHA:3318
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased proportion of CD8-positive T cells, Hypereosinophilia, T lymphocytopenia, Decreased pro...	ORPHA:508533
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cells, Decreased...	OMIM:616005
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Failure to thrive in in...	OMIM:617099
Wolcott-Rallison Syndrome	Iron deficiency anemia, Decreased body weight, Lymphocytosis, Neutropenia	ORPHA:1667
Sneddon Syndrome	Lymphopenia	OMIM:182410
Macrophage Activation Syndrome	Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cell count, Thromboc...	ORPHA:158061
Cinca Syndrome	Abnormality of thrombocytes, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Abnormal gra...	ORPHA:1451
Sickle Cell Disease	Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Increased red cell sickling ten...	OMIM:603903
Griscelli Syndrome Type 2	Splenomegaly, Pancytopenia, Hemophagocytosis, Neutropenia	ORPHA:79477
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia	OMIM:619752
Herpes Simplex Virus Encephalitis	Leukocytosis, Neutrophilia	ORPHA:1930
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An...	ORPHA:2330
Congenital Enterovirus Infection	Abnormal macrophage morphology, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia	ORPHA:292
Immunodeficiency 68	T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess	OMIM:612260
Methylmalonic Aciduria, Cblb Type	Pancytopenia, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia	OMIM:251110
Majeed Syndrome	Cachexia, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Hypochromic microcytic anemi...	ORPHA:77297
Anterior Cutaneous Nerve Entrapment Syndrome	Leukocytosis, Decreased body weight	ORPHA:51890
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Immunodeficiency 67	Transient neutropenia, Liver abscess	OMIM:607676
Diamond-Blackfan Anemia 11	Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia	OMIM:614900
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N...	ORPHA:572
Igg4-Related Pachymeningitis	Eosinophilia	ORPHA:449427
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ...	ORPHA:508542
Diffuse Cutaneous Mastocytosis	Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis	ORPHA:79456
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:274000
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro...	ORPHA:158048
Felty Syndrome	Splenomegaly, Weight loss, Anemia, Bone marrow hypocellularity, Neutropenia, Abnormal lymphocyte ...	ORPHA:47612
Hereditary Spherocytosis	Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero...	ORPHA:822
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia	OMIM:617591
High Altitude Pulmonary Edema	Leukocytosis	ORPHA:330012
Acute Radiation Syndrome	Lymphopenia, Granulocytopenia, Thrombocytopenia	ORPHA:454831
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Splenomegaly, Autoimmune hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia	OMIM:616100
Neonatal Lupus Erythematosus	Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia	ORPHA:398124
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Perianal abscess, Leukocytosis, Bone marrow hypocellularity, Abnormality ...	ORPHA:2968
Hereditary Chronic Pancreatitis	Leukocytosis	ORPHA:676
Ataxia-Telangiectasia	Failure to thrive, Lymphopenia	ORPHA:100
Amoebiasis Due To Entamoeba Histolytica	Liver abscess, Lung abscess, Leukocytosis, Weight loss, Anemia	ORPHA:67
Thymoma	Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Leukemia	ORPHA:99867
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ...	OMIM:600802
Sting-Associated Vasculopathy, Infantile-Onset	Lymphopenia, Leukopenia, Thrombocytosis, Failure to thrive, Anemia	OMIM:615934
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:274150
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le...	ORPHA:906
Adult-Onset Still Disease	Splenomegaly, Leukocytosis, Neutrophilia, Bone marrow hypocellularity	ORPHA:829
Pneumocystosis	Weight loss, Abnormal neutrophil count	ORPHA:723
Von Hippel-Lindau Disease	Polycythemia	ORPHA:892
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia	OMIM:617827
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:235400
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt...	OMIM:243150
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Leukocytosis, Thrombocytopenia	ORPHA:83601
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Severe failure to thrive, HbH hemoglobin	ORPHA:423479
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellularity, Neutropenia, Failure to t...	OMIM:613989
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Thrombocytopenia, Splenomegaly, Neutropenia, Leukopeni...	OMIM:214500
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Incontinentia Pigmenti	Eosinophilia	ORPHA:464
Necrotizing Enterocolitis	Leukocytosis, Small for gestational age, Thrombocytopenia, Neutropenia	ORPHA:391673
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Failure to thrive, Decreased proportion of naive T cells, Abnormally low T cell rece...	ORPHA:276
Pyomyositis	Recurrent cutaneous abscess formation, Leukocytosis, Weight loss	ORPHA:764
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Anemia	ORPHA:935
Primary Intestinal Lymphangiectasia	Weight loss, Decreased proportion of CD3-positive T cells, Lymphopenia, Reduced proportion of CD4...	ORPHA:90362
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Lymphopenia	ORPHA:391307
Trichothiodystrophy 3, Photosensitive	Failure to thrive, Lymphopenia, Neutropenia	OMIM:616395
Sweet Syndrome	Acute myeloid leukemia, Neutrophilia, Leukocytosis, Chronic lymphatic leukemia, Anemia, Sterile a...	ORPHA:3243
Lymphatic Filariasis	Hypereosinophilia	ORPHA:2035
Staphylococcal Necrotizing Pneumonia	Leukopenia, Leukocytosis, Neutrophilia	ORPHA:36238
Igg4-Related Submandibular Gland Disease	Eosinophilia	ORPHA:449432
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla...	OMIM:250250
Schimke Immunoosseous Dysplasia	Pancytopenia, Small for gestational age, Abnormal T cell morphology, Anemia, Neutropenia, Lymphop...	OMIM:242900
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr...	ORPHA:231214
Ivic Syndrome	Leukocytosis, Thrombocytopenia	ORPHA:2307
Fanconi Anemia, Complementation Group E	Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb...	OMIM:600901
Ebola Hemorrhagic Fever	Leukopenia, Lymphopenia, Thrombocytopenia	ORPHA:319218
Sarcoidosis	Hemolytic anemia, Eosinophilia, Increased T cell count, Weight loss, Anemia, Leukopenia, Thromboc...	ORPHA:797
Methylmalonic Aciduria, Cbla Type	Pancytopenia, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia	OMIM:251100
Mirage Syndrome	Anemia, Leukopenia, Decreased body weight, Hypoplastic spleen, Lymphopenia, Thrombocytopenia	OMIM:617053
Common Variable Immunodeficiency	Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombocytopenia, Splenomegaly, Lympho...	ORPHA:1572
Mevalonic Aciduria	Normocytic hypoplastic anemia, Failure to thrive in infancy, Fluctuating splenomegaly, Leukocytos...	OMIM:610377
Gaisböck Syndrome	Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Obesity, Increased...	ORPHA:90041
Cogan Syndrome	Thrombocytosis, Leukocytosis, Anemia	ORPHA:1467
Coccidioidomycosis	Abnormality of the spleen, Granuloma, Abscess, Eosinophilia	ORPHA:228123
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Perianal abscess, Leukocytosis, Hypochromic anemia, Thrombocytosis, Failure to thrive	OMIM:618213
Schimke Immuno-Osseous Dysplasia	Failure to thrive, Small for gestational age, Thrombocytopenia, Decreased proportion of naive CD8...	ORPHA:1830
Fanconi Anemia, Complementation Group A	Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb...	OMIM:227650
Generalized Pustular Psoriasis	Overweight, Leukocytosis, Lymphopenia, Obesity	ORPHA:247353
Lead Poisoning	Small for gestational age, Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology	ORPHA:330015
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Splenomegaly, Neutrophilia, Failure to thrive in infancy, Abscess	OMIM:612852
Ogden Syndrome	Iron deficiency anemia, Polycythemia, Thrombocytopenia	OMIM:300855
Systemic Capillary Leak Syndrome	Leukocytosis, Weight loss	ORPHA:188
Shwachman-Diamond Syndrome 2	Normocytic anemia, Failure to thrive, Thrombocytopenia, Neutropenia	OMIM:617941
Macrocephaly/Autism Syndrome	Splenomegaly, Lymphopenia, Obesity, Large for gestational age	OMIM:605309
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ...	ORPHA:35078
Autoinflammatory Disease, Systemic, X-Linked	Neutropenia, B lymphocytopenia, Hepatosplenomegaly	OMIM:301081
Sepsis In Premature Infants	Small for gestational age, Splenomegaly, Leukocytosis, Anemia, Neutropenia, Decreased body weight...	ORPHA:90051
Pediatric Systemic Lupus Erythematosus	Leukopenia, Lymphopenia, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:93552
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Reticulocytosis, Leukocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:90038
Agammaglobulinemia 1, Autosomal Recessive	Rectal abscess, Failure to thrive, B lymphocytopenia, Neutropenia	OMIM:601495
Beckwith-Wiedemann Syndrome	Splenomegaly, Polycythemia, Obesity, Large for gestational age	ORPHA:116
Igg4-Related Ophthalmic Disease	Eosinophilia	ORPHA:449563
Cushing Disease	Leukocytosis, Increased body weight, Truncal obesity, Abdominal obesity, Decreased eosinophil cou...	ORPHA:96253
Kikuchi-Fujimoto Disease	Splenomegaly, Weight loss, Anemia, Leukopenia, Lymphocytosis, Neutropenia, Thrombocytopenia	ORPHA:50918
Telangiectasia, Hereditary Hemorrhagic, Type 2	Brain abscess, Polycythemia, Anemia	OMIM:600376
Avian Influenza	Leukopenia, Lymphopenia, Thrombocytopenia	ORPHA:454836
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Splenomegaly, Leukocytosis, Failure to thrive, Anemia	OMIM:615895
Urachal Cyst	Leukocytosis, Abscess	ORPHA:488
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Failure to thrive, Small for gestational age, Thrombocytopeni...	OMIM:557000
Reni Syndrome	Lymphopenia	OMIM:617575
Leukocyte Adhesion Deficiency, Type I	Leukocytosis, Rectal abscess	OMIM:116920
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Leukopenia, Bone marrow hypocellula...	OMIM:615688
Hyper-Igd Syndrome	Splenomegaly, Leukocytosis, Neutrophilia, Hepatosplenomegaly	OMIM:260920
Igg4-Related Kidney Disease	Eosinophilia, Weight loss	ORPHA:449395
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormal hemoglobin, Anemia	ORPHA:847
Leukocyte Adhesion Deficiency Type Ii	Neutrophilia, Small for gestational age, Microcytic anemia, Leukocytosis, Failure to thrive, Anemia	ORPHA:99843
Short Stature, Microcephaly, And Endocrine Dysfunction	Truncal obesity, Lymphopenia, Anemia	OMIM:616541
Telangiectasia, Hereditary Hemorrhagic, Type 1	Brain abscess, Polycythemia, Anemia	OMIM:187300
Khan-Khan-Katsanis Syndrome	Failure to thrive, Lymphopenia, Anemia, Neutropenia	OMIM:618460
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop...	ORPHA:391487
Tropical Endomyocardial Fibrosis	Splenomegaly, Eosinophilia, Cachexia	ORPHA:75565
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Splenome...	OMIM:614162
Shigellosis	Failure to thrive in infancy, Abscess, Leukocytosis, Microangiopathic hemolytic anemia, Splenic a...	ORPHA:810
Familial Mediterranean Fever	Splenomegaly, Leukocytosis, Neutrophilia	OMIM:249100
Nk-Cell Enteropathy	Increased T cell count	ORPHA:263665
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope...	ORPHA:447
Fusariosis	Brain abscess, Lung abscess, Abnormality of the spleen, Granuloma, Neutropenia, Lymphopenia	ORPHA:228119
Spondyloenchondrodysplasia With Immune Dysregulation	T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Neutropenia	OMIM:607944
Whim Syndrome	Lymphopenia, Abnormal neutrophil morphology, Neutropenia	ORPHA:51636
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:301040
Legionnaires Disease	Splenomegaly, Lymphopenia, Bone marrow hypocellularity	ORPHA:549
Lujo Hemorrhagic Fever	Leukopenia, Leukocytosis, Lymphopenia, Thrombocytopenia	ORPHA:319213
Ataxia-Telangiectasia	Failure to thrive, Acute lymphoblastic leukemia, T lymphocytopenia, Hypoplasia of the thymus, Dec...	OMIM:208900
Primary Sclerosing Cholangitis	Abnormal eosinophil morphology, Splenomegaly, Weight loss, Hepatosplenomegaly, Histiocytosis	ORPHA:171
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
Vici Syndrome	Failure to thrive, Leukopenia, T lymphocytopenia, Neutropenia, Decreased proportion of CD4-positi...	OMIM:242840
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia	OMIM:620005
Caroli Syndrome	Liver abscess, Hypersplenism, Leukocytosis, Leukopenia, Thrombocytopenia	ORPHA:480520
Cushing Syndrome Due To Ectopic Acth Secretion	Leukocytosis, Increased body weight, Weight loss, Truncal obesity, Abdominal obesity, Decreased e...	ORPHA:99889
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Lymphopenia	OMIM:619708
Isotretinoin-Like Syndrome	Lymphopenia	ORPHA:2306
Pearson Syndrome	Reticulocytosis, Pancytopenia, Small for gestational age, Splenomegaly, Anemia, Bone marrow hypoc...	ORPHA:699
Dermatomyositis	Abnormal eosinophil morphology, Weight loss	ORPHA:221
Viss Syndrome	Failure to thrive, Hypereosinophilia	OMIM:619472
Abetalipoproteinemia	Reticulocytosis, Failure to thrive, Anemia, Acanthocytosis	ORPHA:14
Eisenmenger Syndrome	Iron deficiency anemia, Brain abscess, Increased mean corpuscular volume, Hypochromic microcytic ...	ORPHA:97214
Marburg Hemorrhagic Fever	Lymphopenia, Reticulocytosis, Neutrophilia in presence of infection, Leukopenia, Abnormal lymphoc...	ORPHA:99826
Primary Sjögren Syndrome	Normocytic anemia, Leukopenia, Normochromic anemia, Decreased proportion of CD4-positive helper T...	ORPHA:289390
Reynolds Syndrome	Splenomegaly, Lymphopenia	OMIM:613471
Yellow Fever	Leukocytosis, Neutrophilia, Thrombocytopenia	ORPHA:99829
Liver Disease, Severe Congenital	Thrombocytopenia, Splenomegaly, Leukopenia, Lymphocytosis, Failure to thrive, Anemia	OMIM:619991
Secondary Intestinal Lymphangiectasia	Lymphopenia	ORPHA:90363
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Neutrophilia, Splenomegaly, Leukocytosis, Leukopenia, Thrombocytopenia	ORPHA:99827

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 Zswim1

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 Zswim1.

No publications found that use IMPC mice or data for Zswim1.

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
Zswim1^{tm1b(KOMP)Mbp}	Reporter-tagged deletion allele (with selection cassette)	Mice
Zswim1^{tm1e(KOMP)Mbp}	Targeted, non-conditional allele	ES Cells
Zswim1^{tm1a(KOMP)Mbp}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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