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Gene: Mir142 MGI:2676827

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Registered for phenotyping at IMPC

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

Gene Summary

Name:
microRNA 142
Synonyms:
Mirn142,  miR-142,  mmu-mir-142

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 Mir142 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 Mir142 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia ORPHA:494444
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ... OMIM:187800
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre... OMIM:615193
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl... OMIM:619271
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... OMIM:614172
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Thrombocytopenia 2
Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume OMIM:188000
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia OMIM:618310
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Amegakaryocytic Thrombocytopenia, Congenital, 1
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia OMIM:604498
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Neutrophil inclusion bodies, Giant platelets, Impaired epinephrine-induced platelet aggregation, ... OMIM:155100
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Increa... OMIM:620486
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis OMIM:131400
Thrombocytopenia 7
Impaired ADP-induced platelet aggregation, Reduced platelet alpha granules, Impaired collagen-ind... OMIM:619130
Slc35A1-Cdg
Thrombocytopenia, Giant platelets, Abnormal platelet granules, Neutropenia ORPHA:238459
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Neutropenia, Lymphopenia ORPHA:2688
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-ind... OMIM:617443
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, Impaired oxida... OMIM:226990
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Bernard-Soulier Syndrome
Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet ag... OMIM:231200
Thrombocytopenia 9
Thrombocytopenia, Abnormal platelet aggregation OMIM:620478
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Impaired platelet aggregation, Thrombocytopenia OMIM:124900
Myh9-Related Disease
Increased mean platelet volume, Neutrophil inclusion bodies, Giant platelets, Congenital thromboc... ORPHA:182050
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Acute Myelomonocytic Leukemia
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis ORPHA:517
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Von Willebrand Disease, Platelet-Type
Intermittent thrombocytopenia OMIM:177820
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Hemophagocytosis, Decr... OMIM:619802
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Thrombocytopenia, Anemia OMIM:616176
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Erythroleukemia, Familial, Susceptibility To
Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplasia, Leukemia OMIM:133180
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, B lymphocytopenia, T lymphocytopenia, Leukopenia, Hepatosplenomegaly, Lymphopenia, ... OMIM:618986
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary hematopoiesis, Neutropenia OMIM:615285
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Anemia, Leukemia, Neutropenia OMIM:614082
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Refractory anemia, Monocytosis, Leukopenia, Acute myeloid leukemia OMIM:616871
Spastic Paraplegia And Evans Syndrome
Autoimmune thrombocytopenia, Coombs-positive hemolytic anemia OMIM:601608
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Reticular Dysgenesis
Congenital agranulocytosis, Leukopenia, Hypoplasia of the thymus, Lymphopenia OMIM:267500
Immunodeficiency 86
Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst OMIM:619549
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocytopenia, Monocyt... OMIM:614470
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Thrombocytopenia, Impaired epinephrine-induced pl... OMIM:173590
Immunodeficiency 24
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... OMIM:615897
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia ORPHA:169079
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Impaired ristocetin-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Incr... OMIM:153670
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Refractory Anemia
Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq... ORPHA:98826
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Plasmacytosis, Lymphopenia OMIM:247800
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia OMIM:620481
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Transcobalamin Deficiency
Neutropenia, Lymphopenia, Thrombocytopenia, Pancytopenia ORPHA:859
Pelger-Huet Anomaly
Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Abnormality of neutroph... OMIM:169400
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9
Leukopenia, Leukemia OMIM:620400
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Storage Pool Platelet Disease
Acute leukemia, Decreased mean platelet volume OMIM:185050
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic... ORPHA:67044
Gray Platelet Syndrome
Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly ORPHA:721
Bleeding Disorder, Platelet-Type, 22
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Thromb... OMIM:618462
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased mean platelet volume, Thrombocytopenia OMIM:300048
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count OMIM:615592
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Leukopenia, Abnormal platelet aggregation OMIM:614171
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia OMIM:615401
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Splenomegaly, Lymphopenia, Autoimmune thrombocytopenia, Hemolytic an... ORPHA:444463
Ataxia-Pancytopenia Syndrome
Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro... OMIM:159550
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis OMIM:619281
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemia of inadequat... ORPHA:75564
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Thrombocytopenia, Leukopenia, Neutropenia OMIM:229050
Immunodeficiency 46
Anemia, Intermittent thrombocytopenia, Neutropenia OMIM:616740
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Thrombocythemia 2
Thrombocytosis OMIM:601977
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Elliptocytosis, Anisocytosis, T... OMIM:300835
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Abnormal lymphocyte count, Abnormal B cell count, L... OMIM:615615
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Thrombocytopenia 10
Decreased mean platelet volume, Thrombocytopenia OMIM:620484
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia OMIM:616738
Immunodeficiency 52
Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B cell count, Lymph... OMIM:617514
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Hemophagocytic Lymphohistiocytosis, Familial, 4
Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Neutropenia OMIM:603552
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly OMIM:617441
Acute Erythroid Leukemia
Leukopenia, Anemia, Erythroid hypoplasia, Pancytopenia ORPHA:318
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Sitosterolemia 1
Chronic hemolytic anemia, Giant platelets, Anemia, Impaired platelet aggregation, Episodic hemoly... OMIM:210250
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Lymphopenia, D... OMIM:619846
Fanconi Anemia, Complementation Group V
Thrombocytopenia, Anemia, Neutropenia OMIM:617243
Systemic Lupus Erythematosus 17
Thrombocytopenia, Autoimmune thrombocytopenia, Leukopenia, Lymphopenia OMIM:301080
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly OMIM:607616
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Thrombocytopenia, Leukopenia OMIM:231095
Agammaglobulinemia 7, Autosomal Recessive
Abnormal T cell morphology, Reduced natural killer cell count, Neutropenia OMIM:615214
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Thrombocythemia 3
Thrombocytosis OMIM:614521
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Bone Marrow Failure Syndrome 4
Thrombocytopenia, Anemia, Leukopenia OMIM:618116
Spherocytosis, Type 5
Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia, Abnormal... OMIM:612690
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:598500
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Neutropenia, B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abscess, Abnormal CD... OMIM:150550
Malaria
Thrombocytopenia, Anemia ORPHA:673
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
Fanconi Anemia, Complementation Group T
Thrombocytopenia, Anemia, Acute myeloid leukemia, Pancytopenia OMIM:616435
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Platelet anisocytosis, Increased mean platelet volume, Thrombocytopenia OMIM:620475
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Immunodeficiency 76
B lymphocytopenia, Lymphopenia, Splenomegaly, T lymphocytopenia OMIM:619164
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Immunodeficiency 95
Lymphopenia OMIM:619773
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Specific Granule Deficiency 1
Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bactericida... OMIM:245480
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Idiopathic Aplastic Anemia
Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia ORPHA:88
Bernard-Soulier Syndrome
Macrothrombocytopenia, Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Impaired ristoce... ORPHA:274
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Immunodeficiency 13
B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho... OMIM:615518
Thrombocytopenia 1
Decreased mean platelet volume, Intermittent thrombocytopenia, Congenital thrombocytopenia OMIM:313900
Diamond-Blackfan Anemia 4
Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia, Neutropenia OMIM:612527
Nephrotic Syndrome, Type 7
Thrombocytopenia, Hemolytic anemia OMIM:615008
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... ORPHA:86841
Asplenia, Isolated Congenital
Howell-Jolly bodies, Thrombocytosis, Asplenia OMIM:271400
Amed Syndrome, Digenic
Anemia, Thrombocytopenia, Leukopenia, Acute myeloid leukemia OMIM:619151
Thrombocythemia 1
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp... OMIM:187950
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly OMIM:613101
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
Isovaleric Acidemia
Thrombocytopenia, Leukopenia, Pancytopenia OMIM:243500
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Mastocytosis, Cutaneous
Cutaneous mastocytosis OMIM:154800
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Anemia, Hemophagocytosis, Pancytopenia, Decreased proportion of CD4-... OMIM:613011
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Absent circulating B cells OMIM:619693
Systemic Lupus Erythematosus
Thrombocytopenia, Leukopenia, Hemolytic anemia OMIM:152700
Indolent Systemic Mastocytosis
Splenomegaly, Abnormal mast cell morphology, Increased proportion of CD25+ mast cells, Mastocytosis ORPHA:98848
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Aicardi-Goutieres Syndrome 6
Thrombocytopenia, Splenomegaly, Hemolytic anemia OMIM:615010
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Thrombocytopenia, Anemia, Splenomegaly OMIM:610539
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Neutropenia, Absent circulating B cells OMIM:613501
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Pancytopenia, Lymphocytosis, Abnormal T cell count, Thrombocyt... OMIM:308240
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Poikilocytosis, Anemia of inadequate production, Acanthocytosis, Congenital thrombocytopenia OMIM:300367
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia OMIM:618849
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Thrombocytopenia, Neutropenia OMIM:603585
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia,... ORPHA:486
Noonan Syndrome 12
Thrombocytopenia, Lymphopenia OMIM:618624
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Diamond-Blackfan Anemia 5
Leukopenia, Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia OMIM:612528
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
Leishmaniasis
Anemia, Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Thrombocytopenia ORPHA:507
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, An... OMIM:617780
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Immunodeficiency 44
Lymphopenia OMIM:616636
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly ORPHA:158029
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hemophagocytosis, B lymphocytopenia, Agranulocytosis, Thrombocytopen... OMIM:301078
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Abnormal platelet count, Impaired thromboxane A2 agonist-induced platelet aggregation, Impaired a... OMIM:614009
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia ORPHA:67048
Babesiosis
Thrombocytopenia, Leukopenia, Splenomegaly, Hemolytic anemia ORPHA:108
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Anemia, Splenomegaly OMIM:615085
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Thrombocytopenia, Anemia, Neutropenia ORPHA:289916
Vitamin B12-Unresponsive Methylmalonic Acidemia
Thrombocytopenia, Leukopenia, Anemia, Macrocytic anemia ORPHA:27
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Acute lymphoblastic leukemia, Hep... ORPHA:158057
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Abnormally lo... OMIM:619374
Takenouchi-Kosaki Syndrome
Increased mean platelet volume, Thrombocytopenia OMIM:616737
Isolated Agammaglobulinemia
Anemia, Abnormal lymphocyte morphology, Thrombocytopenia, Recurrent cutaneous abscess formation, ... ORPHA:229717
Chronic Intestinal Pseudoobstruction
Abnormal platelet morphology ORPHA:2978
Aregenerative Anemia
Erythroid hypoplasia, Pancytopenia, Abnormal proportion of CD8-positive T cells, Reticulocytopeni... ORPHA:101096
Disabling Pansclerotic Morphea Of Childhood
Neutropenia, Lymphopenia OMIM:620443
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Thrombocytopenia, Anemia, Lymphopenia OMIM:620365
Mast Cell Sarcoma
Splenomegaly, Mastocytosis ORPHA:66661
Stuve-Wiedemann Syndrome 2
Thrombocytopenia OMIM:619751
Congenital Disorder Of Glycosylation, Type Iig
Thrombocytopenia, Giant platelets, Anemia OMIM:611209
Bleeding Disorder, Platelet-Type, 17
Impaired epinephrine-induced platelet aggregation, Absence of alpha granules, Impaired collagen-i... OMIM:187900
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Iron deficiency anemia, Neutropenia in presence of anti-neutropil an... OMIM:603909
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Thrombocytopenia, Anemia, Splenomegaly, Neutropenia ORPHA:79312
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Autoinflammation With Infantile Enterocolitis
Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Reduced natural killer cell count OMIM:616050
Aicardi-Goutieres Syndrome 4
Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Pancytopenia OMIM:610333
Immunodeficiency 114, Folate-Responsive
Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphopenia OMIM:620603
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-positive T cells, Lymph... ORPHA:169154
Gaucher Disease, Type Iii
Thrombocytopenia, Splenomegaly, Pancytopenia OMIM:231000
Hemochromatosis, Type 3
Neutropenia, Anemia, Lymphopenia OMIM:604250
Moyamoya Disease 6 With Or Without Achalasia
Thrombocytopenia OMIM:615750
Transaldolase Deficiency
Thrombocytopenia, Anemia, Hepatosplenomegaly ORPHA:101028
Atelis Syndrome 1
Thrombocytopenia, Leukopenia, Anemia OMIM:620184
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Impaired colla... OMIM:139090
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positive hemolytic anem... OMIM:304790
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Thrombocytopenia, Reticulocytosis ORPHA:54057
Specific Granule Deficiency 2
Thrombocytopenia, Absent neutrophil specific granules, Anemia, Neutropenia OMIM:617475
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Anemia ORPHA:2123
Letterer-Siwe Disease
Thrombocytopenia, Anemia, Hepatosplenomegaly, Neutropenia OMIM:246400
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Abnormal natural killer cell count, Decreased proportion of CD3-posi... ORPHA:331206
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Anemia, Schistocytosis, Leukopenia, Thrombocytopenia, Lymphopenia, Hemolytic anemia, Neutropenia OMIM:301110
Immunodeficiency 91 And Hyperinflammation
Hemophagocytosis, Neutrophilia, Thrombocytopenia, Hepatosplenomegaly, Monocytosis OMIM:619644
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Lymphangiectasia, Intestinal
Lymphopenia OMIM:152800
Osteopetrosis, Autosomal Recessive 4
Thrombocytopenia, Anemia, Splenomegaly, Reticulocytosis OMIM:611490
Primary Myelofibrosis
Anemia, Pancytopenia, Extramedullary hematopoiesis, Leukocytosis, Poikilocytosis, Hepatosplenomeg... ORPHA:824
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ... OMIM:616959
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Abnormal neutrophil count, Myeloproliferative disorder, Leukocytosis, Thrombocyto... ORPHA:3226
Omenn Syndrome
Anemia, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymphocytopenia, Thrombocytopenia, ... OMIM:603554
Syndromic Diarrhea
Hypoplasia of the thymus, Increased mean platelet volume, Splenomegaly, Lymphopenia, Thrombocytosis ORPHA:84064
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia OMIM:614727
Tufted Angioma
Thrombocytopenia, Anemia ORPHA:1063
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Anemia, Abnormal lymphocyte morphology, Thrombocytopenia, Splenomega... ORPHA:100026
Braddock-Carey Syndrome 2
Thrombocytopenia OMIM:619981
Beta-Thalassemia
Anemia, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Microcytic anemia ORPHA:848
Aggressive Systemic Mastocytosis
Anemia, Increased proportion of CD25+ mast cells, Pancytopenia, Leukocytosis, Hepatosplenomegaly,... ORPHA:98850
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume OMIM:617718
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease... OMIM:301000
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Thrombocytopenia ORPHA:49827
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280785
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Abnormal dense granule content, Impaired platelet aggregation, Abnormal p... OMIM:601399
Congenital Toxoplasmosis
Thrombocytopenia, Anemia ORPHA:858
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia OMIM:619767
Stt3B-Cdg
Thrombocytopenia ORPHA:370924
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Lymphopenia, T lymphocytopenia ORPHA:277
Cyclic Neutropenia
Perianal abscess, Lymphopenia, Tooth abscess, Thrombocytopenia, Decreased eosinophil count, Cycli... ORPHA:2686
Dyskeratosis Congenita, Autosomal Recessive 2
Thrombocytopenia, Pancytopenia OMIM:613987
Relapsing Fever
Anemia, Leukocytosis, Neutrophilia, Thrombocytopenia, Leukopenia ORPHA:91547
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... OMIM:608203
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Thrombocytopenia, Increased CD4:CD8 ratio, B lymphocytopenia OMIM:618048
Thrombocytopenia 6
Thrombocytopenia OMIM:616937
Hereditary Folate Malabsorption
Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Pancytopenia ORPHA:90045
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ... ORPHA:86839
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Thrombocytopenia, Pancytopenia OMIM:613839
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia OMIM:615597
Trichohepatoenteric Syndrome 1
Increased mean platelet volume, Thrombocytosis, Splenomegaly OMIM:222470
Neonatal Lupus Erythematosus
Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hemolytic anemia, Neutropenia ORPHA:398124
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Thrombocytopenia, Hepatosplenomegaly ORPHA:210136
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Thrombocytopenia, Leukocytosis ORPHA:83601
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Thrombocytopenia, Thiamine-responsive megaloblastic anemia OMIM:249270
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Thrombocytopenia, Anemia, Neutropenia OMIM:614520
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Abnormal T cell count, Transient neutropenia, ... OMIM:607676
Tularemia
Anemia, Leukocytosis, Thrombocytopenia, Cutaneous abscess, Brain abscess ORPHA:3392
Von Willebrand Disease, Type 3
Impaired platelet aggregation, Thrombocytopenia OMIM:277480
Macrophage Activation Syndrome
Anemia, Hemophagocytosis, Abnormal natural killer cell count, Thrombocytopenia, Splenomegaly, Neu... ORPHA:158061
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612924
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu... OMIM:616689
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... OMIM:619510
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Leukopenia, Splenomegaly, Lymphopenia OMIM:620210
Immunodeficiency 40
Eosinophilic granuloma, Thrombocytopenia, T lymphocytopenia OMIM:616433
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Thrombocytopenia, Leukopenia, Anemia, Pancytopenia OMIM:613845
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612926
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron... ORPHA:98849
Immune Thrombocytopenia
Thrombocytopenia ORPHA:3002
Immunodeficiency 68
B lymphocytopenia, Abscess, Abnormal natural killer cell count, T lymphocytopenia OMIM:612260
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Increased mean platelet volume, Thrombocytopenia ORPHA:487796
Acute Promyelocytic Leukemia
Anemia, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Neutropenia ORPHA:520
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:605432
Boutonneuse Fever
Thrombocytopenia, Leukopenia ORPHA:83313
Portal Hypertension, Noncirrhotic, 2
Thrombocytopenia, Splenomegaly OMIM:619463
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia ORPHA:1116
Congenital Enterovirus Infection
Anemia, Abnormal macrophage morphology, Leukocytosis, Leukopenia, Thrombocytopenia, Neutropenia ORPHA:292
Dengue Fever
Thrombocytopenia, Leukopenia ORPHA:99828
Rhabdoid Tumor
Thrombocytopenia, Anemia ORPHA:69077
Dyskeratosis Congenita, Autosomal Dominant 2
Aplastic anemia, Pancytopenia, Thrombocytopenia, Leukopenia, Neutropenia OMIM:613989
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... OMIM:616005
Acute Radiation Syndrome
Thrombocytopenia, Granulocytopenia, Lymphopenia ORPHA:454831
Fetal Gaucher Disease
Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Pancytopenia ORPHA:85212
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Decreased proporti... OMIM:617237
Griscelli Syndrome
Thrombocytopenia, Abnormality of neutrophils, Leukopenia, Splenomegaly ORPHA:381
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, T lymphocytopenia, Hepatosplenomegaly, Lymphopenia, Abnormally low T cell ... OMIM:242700
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Thrombocytopenia, Erythroid hype... OMIM:617021
Beemer-Ertbruggen Syndrome
Thrombocytopenia ORPHA:1237
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612925
Chediak-Higashi Syndrome
Anemia, Hemophagocytosis, Leukopenia, Splenomegaly, Impaired neutrophil bactericidal activity, Th... OMIM:214500
Pseudo-Torch Syndrome 3
Anemia, Leukocytosis, Congenital thrombocytopenia OMIM:618886
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Leukopenia, Splenomegal... OMIM:612541
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Thrombocytopenia, Normochromic anemia, Neutropenia OMIM:614857
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Anemia, Leukocytosis ORPHA:90060
Sengers Syndrome
Thrombocytopenia OMIM:212350
Hemophagocytic Syndrome Associated With An Infection
Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia, Thrombocytopenia, Spl... ORPHA:158048
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T c... ORPHA:760
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation OMIM:614074
Propionic Acidemia
Pancytopenia, Thrombocytopenia, Anemia, Neutropenia OMIM:606054
Ebola Hemorrhagic Fever
Thrombocytopenia, Leukopenia, Lymphopenia ORPHA:319218
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Anemia, B lymphocytopenia, Reticulocytopenia, Leukopenia, Thrombocytopenia, Lymphopenia, Neutropenia ORPHA:508542
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Thrombocytopenia OMIM:616577
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Thrombocytopenia, Leukopenia, Neutropenia OMIM:251000
Congenital Rubella Syndrome
Thrombocytopenia, Anemia, Splenomegaly ORPHA:290
Tafro Syndrome
Anemia, Leukocytosis, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly ORPHA:457077
Kasabach-Merritt Phenomenon
Anemia, Reticulocytosis, Leukopenia, Thrombocytopenia, Microangiopathic hemolytic anemia, Neutrop... ORPHA:2330
Osteopetrosis, Autosomal Recessive 2
Anemia, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Extramedullary hematopoiesis OMIM:259710
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Thrombocytopenia, Anemia, Neutropenia ORPHA:47
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Leukocytosis, Neutrophilia, Splenomegaly, Autoimmune thrombocytopeni... OMIM:620565
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Cutaneous mastocytosis OMIM:248910
Blue Rubber Bleb Nevus
Thrombocytopenia, Iron deficiency anemia OMIM:112200
Hepatoportal Sclerosis
Anemia, Thrombocytopenia, Leukopenia, Splenomegaly, Hypersplenism ORPHA:64743
Immunodeficiency 22
Thrombocytopenia, Decreased proportion of CD4-positive helper T cells, Anemia, Abscess OMIM:615758
Felty Syndrome
Anemia, Abnormal lymphocyte morphology, Thrombocytopenia, Splenomegaly, Neutropenia ORPHA:47612
Immunodeficiency 108 With Autoinflammation
Impaired neutrophil chemotaxis, Hyposegmentation of neutrophil nuclei OMIM:260570
Gaucher Disease, Type I
Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hypersplenism OMIM:230800
Fetal Cytomegalovirus Syndrome
Thrombocytopenia, Anemia, Splenomegaly ORPHA:294
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Hepatosplenomegaly, Sp... OMIM:608233
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Anemia, Increased mean corpuscular volume, Leukopenia, Thrombocytopenia, Lymphop... OMIM:127550
Cog4-Cdg
Thrombocytopenia, Hepatosplenomegaly ORPHA:263501
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Anemia, Abnormal natural killer cell count, Pancytopenia, Abnormal lymphocyte count, T lymphocyto... ORPHA:79124
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Thrombocytopenia, Splenomegaly OMIM:620367
Cholesteryl Ester Storage Disease
Anemia, Bone-marrow foam cells, Leukopenia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, H... OMIM:278000
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Reduced natural killer cell count, Neutropenia, Cutaneous abscess, Lymphopenia OMIM:619752
Immunodeficiency, Common Variable, 8, With Autoimmunity
Autoimmune hemolytic anemia, Pancytopenia, Decreased proportion of class-switched memory B cells,... OMIM:614700
Von Willebrand Disease
Abnormality of thrombocytes, Abnormal platelet function, Thrombocytopenia, Microcytic anemia ORPHA:903
Sneddon Syndrome
Lymphopenia OMIM:182410
Methylmalonic Aciduria, Cblb Type
Pancytopenia, Thrombocytopenia, Anemia, Neutropenia OMIM:251110
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Eosinophilia, Hepatosplenomegaly, Lymphopenia ORPHA:169160
Proteasome-Associated Autoinflammatory Syndrome 3
Thrombocytopenia, Anemia, Splenomegaly, Lymphopenia OMIM:617591
Drug-Induced Lupus Erythematosus
Thrombocytopenia, Anemia ORPHA:231111
Dyskeratosis Congenita, Autosomal Dominant 3
Aplastic anemia, Anemia, Macrocytic anemia, Pancytopenia, Leukopenia, Thrombocytopenia, Neutropenia OMIM:613990
Stormorken Syndrome
Anemia, Howell-Jolly bodies, Asplenia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Thrombocytopenia, Hypochromic microcytic anemia ORPHA:3240
Fanconi Anemia, Complementation Group E
Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Leukemia, Neutropenia OMIM:600901
Hemophagocytic Lymphohistiocytosis, Familial, 1
Anemia, Hemophagocytosis, Thrombocytopenia, Leukopenia, Splenomegaly OMIM:267700
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Thrombocytopenia, Anemia ORPHA:3322
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Decreased basophil count, Splenomegaly, Pancytopenia OMIM:618394
Good Syndrome
Abnormal leukocyte morphology, Thrombocytopenia, Anemia ORPHA:169105
Acquired Purpura Fulminans
Thrombocytopenia ORPHA:49566
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Neutropenia, Lymphopenia OMIM:614868
Hemophagocytic Lymphohistiocytosis, Familial, 2
Anemia, Hemophagocytosis, Pancytopenia, Leukopenia, Splenomegaly, Hepatosplenomegaly, Thrombocyto... OMIM:603553
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphopenia OMIM:616100
Methylmalonic Aciduria, Cbla Type
Pancytopenia, Thrombocytopenia, Anemia, Neutropenia OMIM:251100
Ivic Syndrome
Thrombocytopenia, Leukocytosis ORPHA:2307
Holocarboxylase Synthetase Deficiency
Thrombocytopenia ORPHA:79242
Shwachman-Diamond Syndrome 1
Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut... OMIM:260400
Avian Influenza
Thrombocytopenia, Leukopenia, Lymphopenia ORPHA:454836
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Anemia, Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia OMIM:242900
Icf Syndrome
Abnormality of neutrophils, Anemia, Lymphopenia ORPHA:2268
Fanconi Anemia, Complementation Group A
Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Leukemia, Neutropenia OMIM:227650
Prolidase Deficiency
Thrombocytopenia, Anemia, Splenomegaly OMIM:170100
Familial Hemophagocytic Lymphohistiocytosis
Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Neutropenia ORPHA:540
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Thrombocytopenia, Schistocytosis, Reticulocytosis OMIM:274150
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, B lymphocytopenia, Splenomegaly, Lymphopenia, Abnormally low T cell recept... OMIM:602450
Wolfram Syndrome 1
Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia OMIM:222300
Mirage Syndrome
Anemia, Hypoplastic spleen, Thrombocytopenia, Leukopenia, Lymphopenia OMIM:617053
Transaldolase Deficiency
Anemia, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly OMIM:606003
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Granuloma, Hepatosplenomegaly, Splenomegaly, Abscess, Lymphopenia, Impaired oxi... OMIM:618935
Immunodeficiency 55
Absent natural killer cells, Neutropenia, Lymphopenia OMIM:617827
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent natural killer cells, Lymphopenia, Impaired lymphocyte transformation with phytohemaggluti... OMIM:600802
Maternal Uniparental Disomy Of Chromosome 6
Thrombocytopenia ORPHA:96181
Congenital Disorder Of Glycosylation, Type Ih
Thrombocytopenia, Anemia OMIM:608104
Lig4 Syndrome
Acute lymphoblastic leukemia, Thrombocytopenia, Pancytopenia OMIM:606593
Preeclampsia
Thrombocytopenia ORPHA:275555
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of naive T cells, Decreased pr... ORPHA:276
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Anemia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:277380
Necrotizing Enterocolitis
Thrombocytopenia, Leukocytosis, Neutropenia ORPHA:391673
Mitochondrial Complex I Deficiency, Nuclear Type 20
Thrombocytopenia OMIM:611126
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Thrombocytopenia, Schistocytosis, Reticulocytosis OMIM:235400
Braddock-Carey Syndrome 1
Thrombocytopenia OMIM:619980
Pediatric Systemic Lupus Erythematosus
Thrombocytopenia, Microangiopathic hemolytic anemia, Leukopenia, Lymphopenia ORPHA:93552
Vexas Syndrome
Thrombocytopenia, Macrocytic anemia OMIM:301054
Schimke Immuno-Osseous Dysplasia
Anemia, Abnormal proportion of naive CD4 T cells, Decreased proportion of naive CD8 T cells, Thro... ORPHA:1830
Combined Immunodeficiency Due To Crac Channel Dysfunction
Thrombocytopenia, Splenomegaly, Hemolytic anemia ORPHA:169090
Pgm3-Cdg
Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie... ORPHA:443811
Overlap Myositis
Thrombocytopenia, Leukopenia ORPHA:206572
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Thrombocytopenia OMIM:617710
Snakebite Envenomation
Thrombocytopenia ORPHA:449285
Osteopetrosis, Autosomal Recessive 1
Thrombocytopenia, Anemia, Splenomegaly, Pancytopenia OMIM:259700
Shwachman-Diamond Syndrome 2
Normocytic anemia, Thrombocytopenia, Neutropenia OMIM:617941
3-Methylglutaconic Aciduria, Type Viib
Thrombocytopenia, Leukopenia, Neutropenia OMIM:616271
Zika Virus Disease
Thrombocytopenia ORPHA:448237
Shwachman-Diamond Syndrome
Aplastic anemia, Normocytic anemia, Anemia, Acute myeloid leukemia, Macrocytic anemia, Pancytopen... ORPHA:811
Wilson Disease
Thrombocytopenia, Anemia, Splenomegaly ORPHA:905
Gaucher Disease Type 1
Anemia, Pancytopenia, Splenic infarction, Splenic rupture, Leukopenia, Splenomegaly, Hepatospleno... ORPHA:77259
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Immunodeficiency With Hyper-Igm, Type 1
Thrombocytopenia, Splenomegaly, Hemolytic anemia, Neutropenia OMIM:308230
Mucopolysaccharidosis-Plus Syndrome
Anemia, Thrombocytopenia, Leukopenia, Splenomegaly, Neutropenia OMIM:617303
Mevalonic Aciduria
Fluctuating splenomegaly, Anemia, Leukocytosis, Normocytic hypoplastic anemia, Hepatosplenomegaly... OMIM:610377
Bone Marrow Failure Syndrome 3
Aplastic anemia, Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume,... OMIM:617052
Fanconi Anemia, Complementation Group C
Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Leukemia, Neutropenia OMIM:227645
Smith-Kingsmore Syndrome
Thrombocytopenia OMIM:616638
Dyskeratosis Congenita, Autosomal Recessive 1
Aplastic anemia, Thrombocytopenia, Pancytopenia OMIM:224230
Wiskott-Aldrich Syndrome
Acute leukemia, Anemia, Abnormal eosinophil morphology, Abnormal platelet function, Hypoplasia of... ORPHA:906
Congenital Disorder Of Glycosylation, Type Iil
Thrombocytopenia, Splenomegaly, Pancytopenia OMIM:614576
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia ORPHA:391307
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Thrombocytopenia, Normochromic anemia OMIM:618775
Alg8-Cdg
Thrombocytopenia, Anemia ORPHA:79325
Fetal And Neonatal Alloimmune Thrombocytopenia
Neonatal alloimmune thrombocytopenia ORPHA:853
Fanconi Anemia, Complementation Group F
Thrombocytopenia, Leukopenia, Anemia OMIM:603467
Immunodeficiency 9
Hypoplasia of the thymus, Abnormal natural killer cell count, Lymphopenia OMIM:612782
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Leukocyt... OMIM:243150
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Pure red cell ... OMIM:613179
Pseudo-Torch Syndrome 2
Thrombocytopenia OMIM:617397
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Pearson Marrow-Pancreas Syndrome
Refractory sideroblastic anemia, Anemia, Pancytopenia, Reticulocytopenia, Sideroblastic anemia, T... OMIM:557000
Pediatric-Onset Graves Disease
Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia, Splenomegaly ORPHA:525731
Pseudo-Torch Syndrome 1
Thrombocytopenia, Splenomegaly OMIM:251290
Combined Oxidative Phosphorylation Deficiency 14
Thrombocytopenia, Anemia OMIM:614946
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Thrombocytopenia, Leukopenia OMIM:301056
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, B lymphocytopenia, Lymph... OMIM:102700
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Leukopenia, Anemia, Lymphopenia OMIM:615934
Sepsis In Premature Infants
Anemia, Leukocytosis, Thrombocytopenia, Splenomegaly, Neutropenia ORPHA:90051
Chédiak-Higashi Syndrome
Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancytopenia, Abnormal natura... ORPHA:167
Adams-Oliver Syndrome
Thrombocytopenia, Leukopenia ORPHA:974
Osteopetrosis, Autosomal Recessive 5
Anemia, Hypochromic microcytic anemia, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomega... OMIM:259720
Holocarboxylase Synthetase Deficiency
Thrombocytopenia OMIM:253270
Fanconi Anemia, Complementation Group B
Aplastic anemia, Thrombocytopenia OMIM:300514
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, T lymphocytopenia,... ORPHA:35078
Catastrophic Antiphospholipid Syndrome
Thrombocytopenia, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia ORPHA:464343
Immunodeficiency 23
Lymphopenia, Eosinophilia, Abscess, Hemolytic anemia, Neutropenia OMIM:615816
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibod... ORPHA:391487
Recon Progeroid Syndrome
Thrombocytopenia, Anemia OMIM:620370
Lujo Hemorrhagic Fever
Thrombocytopenia, Leukopenia, Leukocytosis, Lymphopenia ORPHA:319213
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Anemia, Pancytopenia, Thrombocytopenia, Leukopenia, Lymphopenia OMIM:620654
Acyl-Coa Dehydrogenase 9 Deficiency
Thrombocytopenia ORPHA:99901
Lysinuric Protein Intolerance
Anemia, Hemophagocytosis, Thrombocytopenia, Leukopenia, Splenomegaly OMIM:222700
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Anemia, Macrocytic anemia, Lymphopeni... OMIM:250250
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Leukocytosis, Reticulocytosis, Thrombocytopenia, Microangiopathic hemolytic anemia, Schistocytosis ORPHA:90038
Hellp Syndrome
Decreased mean corpuscular hemoglobin concentration, Thrombocytopenia, Hemolytic anemia, Microang... ORPHA:244242
Primary Intestinal Lymphangiectasia
Decreased proportion of CD3-positive T cells, Reduced proportion of CD4+ effector memory T cells,... ORPHA:90362
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Thrombocytopenia OMIM:208085
Gaucher Disease, Type Ii
Thrombocytopenia, Anemia, Splenomegaly OMIM:230900
Aicardi-Goutieres Syndrome 1
Thrombocytopenia, Splenomegaly OMIM:225750
Ivic Syndrome
Thrombocytopenia, Leukocytosis OMIM:147750
Diamond-Blackfan Anemia 21
Thrombocytopenia, Anemia, Erythroid hypoplasia OMIM:620072
Noonan Syndrome 4
Thrombocytopenia OMIM:610733
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Thrombocytopenia, Normochromic anemia OMIM:254900
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Thrombocytopenia, Leukopenia, Splenomegaly OMIM:300972
Common Variable Immunodeficiency
Autoimmune thrombocytopenia, Splenomegaly, Hemolytic anemia, Lymphopenia ORPHA:1572
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Anemia, Lymphopenia ORPHA:935
Castleman Disease
Thrombocytopenia, Anemia, Decreased mean corpuscular volume ORPHA:160
Caroli Syndrome
Liver abscess, Leukocytosis, Thrombocytopenia, Leukopenia, Hypersplenism ORPHA:480520
Fanconi Anemia, Complementation Group D2
Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Leukemia, Neutropenia OMIM:227646
Shigellosis
Splenic abscess, Leukocytosis, Thrombocytopenia, Microangiopathic hemolytic anemia, Abscess ORPHA:810
Alport Syndrome 1, X-Linked
Thrombocytopenia OMIM:301050
Kaposiform Lymphangiomatosis
Anemia, Abnormal spleen morphology, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly ORPHA:464329
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Toxic Epidermal Necrolysis
Thrombocytopenia, Anemia, Neutropenia ORPHA:537
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Bacterial Toxic-Shock Syndrome
Thrombocytopenia, Increased circulating metamyelocyte count, Increased circulating myelocyte coun... ORPHA:36234
Neuroblastoma
Thrombocytopenia, Anemia ORPHA:635
Lathosterolosis
Anisopoikilocytosis, Thrombocytopenia, Abnormal platelet morphology ORPHA:46059
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Thrombocytopenia OMIM:612394
Gaucher Disease, Perinatal Lethal
Anemia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly OMIM:608013
Combined Oxidative Phosphorylation Deficiency 55
Thrombocytopenia, Anemia OMIM:619743
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Thrombocytopenia ORPHA:457351
Paroxysmal Nocturnal Hemoglobinuria
Anemia, Pancytopenia, Abnormal erythrocyte enzyme concentration or activity, Reticulocytosis, Leu... ORPHA:447
Thrombocytopenia-Absent Radius Syndrome
Thrombocytopenia ORPHA:3320
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Lymphocytosis, Neutropenia in presence of anti-neutropil antibodies,... ORPHA:3261
Stevens-Johnson Syndrome
Thrombocytopenia, Abnormality of neutrophils, Anemia ORPHA:36426
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia, T lymphocytopenia OMIM:251260
Tangier Disease
Thrombocytopenia, Hepatosplenomegaly, Anemia ORPHA:31150
Farber Disease
Thrombocytopenia, Hepatosplenomegaly, Anemia ORPHA:333
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Thrombocytopenia, Splenomegaly OMIM:251880
21Q22.11Q22.12 Microdeletion Syndrome
Thrombocytopenia, Anemia ORPHA:261323
Idiopathic Hypereosinophilic Syndrome
Anemia, Myeloproliferative disorder, Leukocytosis, Neutrophilia, Hepatosplenomegaly, Splenomegaly... ORPHA:3260
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Anemia, Accessory spleen, Severe B lymphocytopenia, Thrombocytopenia, Lymphopenia OMIM:620005
Down Syndrome
Leukemia, Polycythemia, Neutrophilia, Thrombocytopenia, Acute megakaryocytic leukemia ORPHA:870
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmune thrombocytopenia, Neutropenia, Lymphopenia, T lymphocytopenia OMIM:607944
Hennekam-Beemer Syndrome
Mastocytosis ORPHA:2135
Wars2-Related Combined Oxidative Phosphorylation Defect
Thrombocytopenia ORPHA:572798
Immunodeficiency 87 And Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphopenia, Decreased proportion of CD4-positive ... OMIM:619573
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:277400
Congenital Erythropoietic Porphyria
Reticulocytosis, Poikilocytosis, Anisocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Erythr... ORPHA:79277
Mogs-Cdg
Thrombocytopenia, Hepatosplenomegaly ORPHA:79330
Gaucher Disease Type 3
Thrombocytopenia, Anemia, Splenomegaly, Pancytopenia ORPHA:77261
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Thrombocytopenia, Leukopenia, Anemia, Hepatosplenomegaly ORPHA:505248
Generalized Pustular Psoriasis
Leukocytosis, Lymphopenia ORPHA:247353
Kikuchi-Fujimoto Disease
Anemia, Lymphocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia ORPHA:50918
Congenital Syphilis
Thrombocytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia ORPHA:499009
Tick-Borne Encephalitis
Thrombocytopenia, Leukopenia, Leukocytosis ORPHA:297
Q Fever
Anemia, Granuloma, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia ORPHA:781
Atelis Syndrome 2
Thrombocytopenia, Anemia OMIM:620185
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Thrombocytopenia, Splenomegaly, Reduced erythrocyte uroporphyrinogen III cosynt... OMIM:263700
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Anemia, Pancytopenia, Leukocytosis, Leukopenia, Splenomegaly, Hepatosplenomegaly, Lymphopenia, Th... OMIM:615688
Brucellosis
Lung abscess, Liver abscess, Anemia, Leukocytosis, Granuloma, Leukopenia, Splenomegaly, Thrombocy... ORPHA:1304
Fusariosis
Lung abscess, Brain abscess, Granuloma, Abnormality of the spleen, Lymphopenia, Neutropenia ORPHA:228119
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Thrombocytopenia OMIM:619005
Ataxia-Telangiectasia
Hypoplasia of the thymus, T lymphocytopenia, Acute lymphoblastic leukemia, Decreased proportion o... OMIM:208900
Alg12-Cdg
B lymphocytopenia, Thrombocytopenia ORPHA:79324
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Thrombocytopenia, Anemia OMIM:612199
Neuroleptic Malignant Syndrome
Thrombocytosis, Thrombocytopenia, Leukocytosis ORPHA:94093
Autoinflammatory Disease, Systemic, With Vasculitis
Anemia, Increased B cell count, Leukocytosis, Increased T cell count, Hepatosplenomegaly, Splenom... OMIM:620376
Dubowitz Syndrome
Thrombocytopenia, Acute lymphoblastic leukemia, Abnormality of neutrophils, Anemia ORPHA:235
Insulin-Resistance Syndrome Type B
Thrombocytopenia, Leukopenia ORPHA:2298
Osteopetrosis With Renal Tubular Acidosis
Anemia, Pancytopenia, Elliptocytosis, Thrombocytopenia, Leukopenia ORPHA:2785
Rift Valley Fever
Thrombocytopenia, Anemia ORPHA:319251
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Megaloblastic anemia, Thrombocytopenia, Neutropenia ORPHA:79282
Dyskeratosis Congenita
Thrombocytopenia, Abnormality of neutrophils, Anemia, Splenomegaly ORPHA:1775
Systemic Lupus Erythematosus
Thrombocytopenia, Leukopenia, Hemolytic anemia ORPHA:536
Primary Sjögren Syndrome
Normocytic anemia, Normochromic anemia, Decreased proportion of CD4-positive helper T cells, Leuk... ORPHA:289390
Multiple Mitochondrial Dysfunctions Syndrome 7
Thrombocytopenia OMIM:620423
Dyskeratosis Congenita, X-Linked
Anemia, Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Leukopenia OMIM:305000
Fibular Hemimelia
Thrombocytopenia ORPHA:93323
Whim Syndrome
Neutropenia, Abnormal neutrophil morphology, Lymphopenia ORPHA:51636
Pearson Syndrome
Anemia, Pancytopenia, Reticulocytosis, Hypoplastic spleen, Thrombocytopenia, Splenomegaly, Neutro... ORPHA:699
Aicardi-Goutieres Syndrome 7
Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hemolytic anemia OMIM:615846
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Acute leukemia, Thrombocytopenia, Hemolytic anemia ORPHA:647
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Abnormal lymphocyte morphology, Reticulocytosis, Leukopeni... ORPHA:99826
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Thrombocytopenia, Splenomegaly OMIM:301072
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Thrombocytopenia ORPHA:464321
Infection-Related Hemolytic Uremic Syndrome
Thrombocytopenia, Leukocytosis, Hemolytic anemia, Brain abscess ORPHA:544482
Thrombocytopenia-Absent Radius Syndrome
Anemia, Leukocytosis, Thrombocytopenia, Hepatosplenomegaly, Eosinophilia OMIM:274000
Lysinuric Protein Intolerance
Anemia, Hemophagocytosis, Thrombocytopenia, Leukopenia, Hepatosplenomegaly ORPHA:470
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Thrombocytopenia, Anemia ORPHA:163979
Deeah Syndrome
Decreased hemoglobin concentration, Thrombocytopenia OMIM:619004
Jacobsen Syndrome
Thrombocytopenia OMIM:147791
Gaucher Disease
Anemia, Pancytopenia, Splenic infarction, Splenic rupture, Leukopenia, Splenomegaly, Thrombocytop... ORPHA:355
Hemorrhagic Fever-Renal Syndrome
Thrombocytopenia, Anemia, Leukocytosis ORPHA:340
Cornelia De Lange Syndrome 1
Thrombocytopenia OMIM:122470
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Leukocytosis, Neutrophilia, Leukopenia, Splenomegaly, Thrombocytopenia ORPHA:99827
Fanconi Anemia
Anemia, Thrombocytopenia, Leukopenia, Pyridoxine-responsive sideroblastic anemia ORPHA:84
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Anemia, Pancytopenia, Hepatosplenomegaly, Abnormality of the spleen, Splenomegaly, Thrombocytopenia ORPHA:2072
Yellow Fever
Neutrophilia, Thrombocytopenia, Leukocytosis ORPHA:99829
Wilson Disease
Thrombocytopenia, Anemia, Splenomegaly, Hemolytic anemia OMIM:277900
Chronic Visceral Acid Sphingomyelinase Deficiency
Acute promyelocytic leukemia, Thrombocytopenia, Splenomegaly, Autoimmune thrombocytopenia, Hypers... ORPHA:77293
Sarcoidosis
Anemia, Increased T cell count, Leukopenia, Thrombocytopenia, Eosinophilia, Hemolytic anemia ORPHA:797
Congenital Disorder Of Glycosylation, Type Iiw
Thrombocytopenia, Anemia, Splenomegaly, Microcytic anemia OMIM:619525
Reynolds Syndrome
Splenomegaly, Lymphopenia OMIM:613471
Roberts Syndrome
Thrombocytopenia ORPHA:3103
Jacobsen Syndrome
Thrombocytopenia ORPHA:2308
Ogden Syndrome
Polycythemia, Thrombocytopenia, Iron deficiency anemia OMIM:300855
Autosomal Recessive Polycystic Kidney Disease
Hypersplenism, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly ORPHA:731
Igg4-Related Dacryoadenitis And Sialadenitis
Thrombocytopenia ORPHA:79078
22Q11.2 Deletion Syndrome
Thrombocytopenia, Abnormality of thrombocytes, Hypoplasia of the thymus, Splenomegaly ORPHA:567
Hardikar Syndrome
Hypersplenism, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly OMIM:301068
Oculocerebrorenal Syndrome Of Lowe
Thrombocytopenia, Anemia ORPHA:534
Exercise-Induced Malignant Hyperthermia
Thrombocytopenia ORPHA:466650
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Hepatosplenomegaly, Chronic lymphatic leukemia ORPHA:51
Proteasome-Associated Autoinflammatory Syndrome 1
Microcytic anemia, Thrombocytopenia, Splenomegaly OMIM:256040
Liver Disease, Severe Congenital
Anemia, Lymphocytosis, Thrombocytopenia, Leukopenia, Splenomegaly OMIM:619991
Acute Liver Failure
Thrombocytopenia ORPHA:90062
Osteogenesis Imperfecta
Thrombocytopenia ORPHA:666
Leptospirosis
Thrombocytopenia ORPHA:509
Digeorge Syndrome
Thrombocytopenia, Hypoplasia of the thymus, Anemia, Splenomegaly OMIM:188400
Noonan Syndrome 1
Juvenile myelomonocytic leukemia, Amegakaryocytic thrombocytopenia OMIM:163950

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 Mir142

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 Mir142.

No publications found that use IMPC mice or data for Mir142.

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MGI Allele Allele Type Produced
Mir142em1(IMPC)Mhzh Deletion Mice

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