Gene Summary

Name:
hect domain and RLD 6
Synonyms:
2510038N07Rik,  Herc5,  1700121D12Rik,  CEB1,  4930427L17Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 System Allele Zyg Sex Life Stage P Value
increased eosinophil cell number Herc6tm1b(EUCOMM)Hmgu HOM Early adult 7.07×10-05
increased basophil cell number Herc6tm1b(EUCOMM)Hmgu HOM Early adult 1.89×10-07
thrombocytopenia Herc6tm1b(EUCOMM)Hmgu HOM Early adult 8.37×10-05

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Viewing: all phenotypes

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 Herc6 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 Herc6 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 88
Eosinophilia OMIM:619630
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia OMIM:131400
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia OMIM:131440
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... OMIM:202700
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia ORPHA:517
Eosinophil Peroxidase Deficiency
Abnormal eosinophil morphology OMIM:261500
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Immunodeficiency 7
Hypereosinophilia OMIM:615387
Amegakaryocytic Thrombocytopenia, Congenital
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia OMIM:167850
Macrosomia Adiposa Congenita
Eosinophilia OMIM:248100
Thrombocytopenia 7
Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Impaired colla... OMIM:619130
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia ORPHA:231393
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Sea-Blue Histiocyte Disease
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Halothane Hepatitis
Eosinophilia OMIM:234350
Kimura Disease
Eosinophilia ORPHA:482
Sebastian syndrome
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:605249
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Bleeding Disorder, Platelet-Type, 16
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... OMIM:187800
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Bone marrow hypocellularity, Leukopenia OMIM:615715
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thrombocytopenia OMIM:615285
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Acute myeloi... OMIM:619041
Spastic Paraplegia And Evans Syndrome
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia OMIM:601608
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Wells Syndrome
Eosinophilia ORPHA:901
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thrombocytopenia OMIM:133180
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Candidiasis, Familial, 2
Hypereosinophilia OMIM:212050
Platelet Signal Processing Defect
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platele... OMIM:173590
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Impaired epinephrine-induced platelet aggregation, Impaired arach... OMIM:619271
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Fanconi Anemia, Complementation Group G
Leukemia, Thrombocytopenia, Neutropenia, Anemia OMIM:614082
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Macrothrombocytopenia, Giant platelets OMIM:600208
Thrombocythemia 2
Thrombocytosis OMIM:601977
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... OMIM:601859
Refractory Anemia
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Bone marrow hypocellulari... ORPHA:98826
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia OMIM:243700
Fanconi Anemia, Complementation Group T
Pancytopenia, Thrombocytopenia, Anemia, Bone marrow hypocellularity OMIM:616435
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Omenn Syndrome
B lymphocytopenia, Hypoplasia of the thymus, Anemia, Splenomegaly, Severe B lymphocytopenia, Thro... OMIM:603554
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Thrombocythemia 3
Thrombocytosis OMIM:614521
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia, Bone marrow hypocellularity OMIM:617243
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia OMIM:253600
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:155100
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... OMIM:263300
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... ORPHA:75564
Cernunnos-Xlf Deficiency
B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia ORPHA:169079
Gray Platelet Syndrome
Thrombocytopenia, Abnormality of thrombocytes, Splenomegaly ORPHA:721
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphocytosis, Aut... ORPHA:169154
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:603909
Immunodeficiency 62
Autoimmune thrombocytopenia OMIM:618459
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Eosinophilia OMIM:618282
Cinca Syndrome
Leukocytosis, Hepatosplenomegaly, Eosinophilia, Anemia OMIM:607115
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Neutropenia, Coombs-positive hemolytic anemia, Anemia, Autoimmune thrombocytopenia, Thrombocytope... OMIM:304790
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Hereditary Folate Malabsorption
Pancytopenia, Thrombocytopenia, Eosinophilia, Megaloblastic anemia ORPHA:90045
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto... OMIM:159550
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Transcobalamin Deficiency
Pancytopenia, Thrombocytopenia, Neutropenia, Lymphopenia ORPHA:859
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Eosinophilia OMIM:618092
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo... ORPHA:98849
Autosomal Dominant Severe Congenital Neutropenia
Acute lymphoblastic leukemia, Neutropenia, Monocytosis, Leukemia, Acute myeloid leukemia, Lymphop... ORPHA:486
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired collagen-induced plat... OMIM:187950
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly OMIM:618394
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Abnormal... ORPHA:331206
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Anemia OMIM:616176
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Neutropenia, Congenital thrombocytopenia OMIM:616738
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eosinophilia OMIM:618523
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia OMIM:147060
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Hemophagocytic Lymphohistiocytosis, Familial, 4
Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis OMIM:603552
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia OMIM:610163
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Leukopenia OMIM:614171
Immunodeficiency 46
Anemia, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Slc35A1-Cdg
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia ORPHA:238459
Nephrotic Syndrome, Type 7
Thrombocytopenia, Hemolytic anemia OMIM:615008
Idiopathic Aplastic Anemia
Neutropenia, Anemia, Bone marrow hypocellularity, Reticulocytopenia, Pancytopenia, Thrombocytopenia ORPHA:88
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Immunodeficiency 49
Eosinophilia, Lymphopenia OMIM:617237
Fechtner syndrome
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:153640
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hepatosplenomegaly, Eosinophilia OMIM:618999
Wolfram Syndrome, Mitochondrial Form
Thrombocytopenia, Megaloblastic anemia, Neutropenia, Sideroblastic anemia OMIM:598500
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:314050
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia OMIM:231095
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Eosinophilia, Lymphopenia ORPHA:169160
Eosinophilic Gastroenteritis
Leukocytosis, Eosinophilia, Anemia ORPHA:2070
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Malaria
Thrombocytopenia, Anemia ORPHA:673
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Platelet Disorder, Undefined
Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Omenn Syndrome
Leukocytosis, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Eosinophilia ORPHA:39041
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Combined Immunodeficiency Due To Zap70 Deficiency
Absence of CD8-positive T cells, Hepatosplenomegaly, Lymphocytosis, Autoimmune thrombocytopenia, ... ORPHA:911
Roifman Syndrome
Hepatosplenomegaly, Eosinophilia ORPHA:353298
Roifman Syndrome
Eosinophilia, Splenomegaly OMIM:616651
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal dense granule content, Acute myeloid leukemia, Abnormal alpha granule content, Acute mon... OMIM:601399
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Reduced red cell adenosine deaminase level, Splenomegaly, Aplasia of the thymu... OMIM:102700
Bone Marrow Failure Syndrome 4
Thrombocytopenia, Anemia, Bone marrow hypocellularity, Leukopenia OMIM:618116
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Abscess, Splenomegaly, Intermittent throm... OMIM:150550
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity OMIM:613987
+173470 integrin, beta-3
Decreased platelet glycoprotein IIb-IIIa, Post-transfusion thrombocytopenia, Impaired platelet ag... OMIM:173470
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Acanthocytosis, Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production OMIM:300367
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis OMIM:613101
Phosphoglycerate Dehydrogenase Deficiency
Thrombocytopenia, Megaloblastic anemia OMIM:601815
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis OMIM:617718
Wt Limb-Blood Syndrome
Leukemia, Thrombocytopenia, Hypoplastic anemia, Pancytopenia OMIM:194350
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Thrombocytopenia, Hypersplenism, Anemia, Splenomegaly OMIM:610539
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Folate Malabsorption, Hereditary
Thrombocytopenia, Neutropenia, Leukopenia, Folate-responsive megaloblastic anemia OMIM:229050
Isovaleric Acidemia
Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Leukopenia OMIM:243500
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Anemia, Splenomegaly OMIM:615085
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired platelet aggregation OMIM:617443
Bernard-Soulier Syndrome
Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet aggregation OMIM:231200
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Hypereosinophilia ORPHA:2902
Autoinflammatory Syndrome, Familial, Behcet-Like
Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... ORPHA:443811
Immunodeficiency, Common Variable, 12, With Autoimmunity
Thrombocytopenia, Autoimmune hemolytic anemia OMIM:616576
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Splenomegaly, Lymphocytosis, Pancytopenia, Thrombocytopenia, Aplastic anemia, Hemoph... OMIM:308240
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Thrombocytopenia, Sideroblastic anemia OMIM:617021
Amed Syndrome, Digenic
Leukopenia, Bone marrow hypocellularity, Anemia, Acute myeloid leukemia, Thrombocytopenia OMIM:619151
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly OMIM:617388
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia OMIM:615597
Cyclic Neutropenia
Perianal abscess, Lymphopenia, Cyclic neutropenia, Thrombocytopenia, Tooth abscess, Decreased eos... ORPHA:2686
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Netherton Syndrome
Hypereosinophilia OMIM:256500
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Sengers Syndrome
Thrombocytopenia OMIM:212350
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
Osteopetrosis, Autosomal Recessive 4
Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia OMIM:611490
Myh9-Related Disease
Neutrophil inclusion bodies, Increased mean platelet volume, Giant platelets, Congenital thromboc... ORPHA:182050
Loeffler Endocarditis
Eosinophilia ORPHA:75566
Aspergillosis
Eosinophilia, Neutropenia ORPHA:1163
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia ORPHA:67048
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Thrombocytopenia, Megaloblastic anemia OMIM:613839
Imerslund-Gräsbeck Syndrome
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... ORPHA:35858
Iga Pemphigus
Eosinophilia, Cutaneous abscess ORPHA:555905
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Abnormal lymphocyte morphology, Anemia, Thrombocytopenia, ... ORPHA:229717
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia OMIM:618048
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Neutropenia OMIM:603585
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:54057
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Anemia, Splenomegaly, Acute myeloid leukemia, Hepatosp... ORPHA:158057
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Thrombocytopenia, Neutropenia ORPHA:289916
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Acute leukemia, Bone marrow hypocellularity, Splenomegaly, Myeloproliferative disor... ORPHA:3226
Igg4-Related Aortitis
Hypereosinophilia ORPHA:449400
Immunodeficiency 23
Neutropenia, Abscess, Lymphopenia, Eosinophilia, Hemolytic anemia OMIM:615816
Aregenerative Anemia
Neutropenia, Abnormal proportion of CD8-positive T cells, Bone marrow hypocellularity, Erythroid ... ORPHA:101096
Immunodeficiency 89 And Autoimmunity
Decreased eosinophil count, Hypochromic microcytic anemia OMIM:619632
Systemic Lupus Erythematosus
Thrombocytopenia, Hemolytic anemia, Leukopenia OMIM:152700
Sea-Blue Histiocytosis
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly ORPHA:158029
Combined Oxidative Phosphorylation Deficiency 14
Thrombocytopenia, Anemia OMIM:614946
Aicardi-Goutieres Syndrome 4
Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly OMIM:610333
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Splenomegaly OMIM:231000
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Lymphopenia OMIM:617425
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Thrombocytopenia OMIM:254900
Leishmaniasis
Leukopenia, Anemia, Splenomegaly, Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia ORPHA:507
Primary Myelofibrosis
Leukocytosis, Thrombocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Poikilocytosis, Extramedu... ORPHA:824
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Splenomegaly, Autoimmune thrombocytopenia, Decreased proportion of CD4-positi... OMIM:613011
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Anemia ORPHA:2123
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Impaired colla... OMIM:139090
Pelger-Huet Anomaly
Neutropenia, Hyposegmentation of neutrophil nuclei, Giant platelets, Thrombocytopenia, Abnormalit... OMIM:169400
Specific Granule Deficiency 2
Anemia, Thrombocytopenia, Neutropenia, Absent neutrophil specific granules OMIM:617475
Autoimmune Lymphoproliferative Syndrome
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... ORPHA:3261
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Thrombocytopenia, Neutropenia, Splenomegaly ORPHA:79312
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia OMIM:614727
Babesiosis
Thrombocytopenia, Hemolytic anemia, Leukopenia, Splenomegaly ORPHA:108
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... OMIM:301000
Beta-Thalassemia
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Thrombocytopenia ORPHA:848
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphocytosis ORPHA:139402
Immune Thrombocytopenia
Thrombocytopenia ORPHA:3002
Transaldolase Deficiency
Thrombocytopenia, Hepatosplenomegaly, Anemia ORPHA:101028
Noonan Syndrome 12
Thrombocytopenia, Lymphopenia OMIM:618624
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Anemia, Abnormal mast cell morphology, Hep... ORPHA:98850
Letterer-Siwe Disease
Anemia, Thrombocytopenia, Hepatosplenomegaly, Neutropenia OMIM:246400
Cystic Echinococcosis
Peritoneal abscess, Abscess, Eosinophilia, Splenic cyst ORPHA:400
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Anemia, Thrombocytopenia, Leukopenia ORPHA:27
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia ORPHA:2314
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Gaucher Disease, Type Ii
Thrombocytopenia, Anemia, Splenomegaly OMIM:230900
Autoinflammation With Infantile Enterocolitis
Anemia, Splenomegaly, Reduced natural killer cell count, Pancytopenia, Thrombocytopenia OMIM:616050
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thrombocytopenia, Megaloblastic anemia ORPHA:49827
Refractory Anemia With Excess Blasts
Leukocytosis, Abnormal mean corpuscular volume, Bone marrow hypocellularity, Acute myeloid leukem... ORPHA:86839
Congenital Toxoplasmosis
Thrombocytopenia, Anemia ORPHA:858
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Splenomegaly OMIM:615846
Immunodeficiency 10
Thrombocytopenia, Autoimmune hemolytic anemia OMIM:612783
Mucoepithelial Dysplasia, Hereditary
Eosinophilia OMIM:158310
Tufted Angioma
Thrombocytopenia, Anemia ORPHA:1063
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Anemia, Thrombocytopenia, Neutropenia OMIM:614857
Angiostrongyliasis
Hypereosinophilia ORPHA:74
Neonatal Lupus Erythematosus
Hemolytic anemia, Neutropenia, Anemia, Splenomegaly, Pancytopenia, Thrombocytopenia, Aplastic anemia ORPHA:398124
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Anemia, Splenomegaly, Autoimmune thrombocytopenia, Thrombocytopen... ORPHA:100026
Eosinophilic Granulomatosis With Polyangiitis
Eosinophilia ORPHA:183
Immunodeficiency 91 And Hyperinflammation
Monocytosis, Neutrophilia, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis OMIM:619644
Late-Onset Isolated Acth Deficiency
Macrocytic anemia, Eosinophilia, Normocytic anemia ORPHA:199299
Preeclampsia
Thrombocytopenia ORPHA:275555
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Thrombocytopenia, Leukocytosis ORPHA:83601
Idiopathic Hypereosinophilic Syndrome
Leukocytosis, Thrombocytosis, Anemia, Splenomegaly, Myeloproliferative disorder, Hepatosplenomega... ORPHA:3260
Tularemia
Brain abscess, Leukocytosis, Anemia, Thrombocytopenia, Cutaneous abscess ORPHA:3392
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thrombocytopenia, Thiamine-responsive megaloblastic anemia, Sideroblastic anemia OMIM:249270
Alveolar Echinococcosis
Anemia, Abnormal spleen morphology, Eosinophilia, Cutaneous abscess, Liver abscess ORPHA:284
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Thrombocytopenia, Hepatosplenomegaly, Bone marrow hypocellularity ORPHA:210136
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, 5
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612926
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Anemia, Thrombocytopenia, Neutropenia, Bone marrow hypocellularity OMIM:614520
Osteopetrosis, Autosomal Recessive 2
Anemia, Hepatosplenomegaly, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia OMIM:259710
Thrombocytopenia 6
Thrombocytopenia OMIM:616937
Rhabdoid Tumor
Thrombocytopenia, Anemia ORPHA:69077
Lig4 Syndrome
Pancytopenia, Thrombocytopenia OMIM:606593
Thrombocytopenia-Absent Radius Syndrome
Leukocytosis, Anemia, Hepatosplenomegaly, Thrombocytopenia, Eosinophilia OMIM:274000
Relapsing Fever
Leukocytosis, Leukopenia, Anemia, Neutrophilia, Thrombocytopenia ORPHA:91547
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:605432
Macrophage Activation Syndrome
Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis, Abnormal natural killer ce... ORPHA:158061
Von Willebrand Disease, Type 3
Thrombocytopenia, Impaired platelet aggregation OMIM:277480
Dyskeratosis Congenita, Autosomal Dominant 2
Leukopenia, Bone marrow hypocellularity, Pancytopenia, Thrombocytopenia, Aplastic anemia OMIM:613989
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Thrombocytopenia OMIM:616577
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hypereosinophilia, Decreased proportion of CD4-positive helper T cells, Decreased proportion of C... ORPHA:508533
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Anemia, Erythroid hypoplasia, Spl... OMIM:612541
Griscelli Syndrome
Leukopenia, Bone marrow hypocellularity, Splenomegaly, Thrombocytopenia, Abnormality of neutrophils ORPHA:381
Bleeding Disorder, Platelet-Type, 17
Absence of alpha granules, Thrombocytopenia OMIM:187900
Congenital Rubella Syndrome
Thrombocytopenia, Anemia, Splenomegaly ORPHA:290
Stormorken Syndrome
Thrombocytopenia, Howell-Jolly bodies, Anemia, Asplenia OMIM:185070
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Congenital Enterovirus Infection
Leukocytosis, Neutropenia, Leukopenia, Anemia, Abnormal macrophage morphology, Thrombocytopenia ORPHA:292
Scleroderma
Hypereosinophilia ORPHA:801
Methylmalonic Aciduria, Cblb Type
Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:251110
Fetal Gaucher Disease
Pancytopenia, Abnormality of the spleen, Thrombocytopenia, Splenomegaly ORPHA:85212
Congenital Disorder Of Glycosylation, Type Ih
Thrombocytopenia, Anemia OMIM:608104
Thrombocytopenia 1
Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia OMIM:313900
Portal Hypertension, Noncirrhotic, 2
Thrombocytopenia, Splenomegaly OMIM:619463
Chediak-Higashi Syndrome
Neutropenia, Leukopenia, Abnormal dense granules, Giant neutrophil granules, Anemia, Splenomegaly... OMIM:214500
Incontinentia Pigmenti
Leukocytosis, Eosinophilia OMIM:308300
Felty Syndrome
Neutropenia, Abnormal lymphocyte morphology, Anemia, Bone marrow hypocellularity, Splenomegaly, T... ORPHA:47612
Acute Promyelocytic Leukemia
Leukocytosis, Neutropenia, Leukopenia, Anemia, Pancytopenia, Thrombocytopenia ORPHA:520
Congenital Disorder Of Glycosylation, Type Iig
Thrombocytopenia, Anemia OMIM:611209
Stt3B-Cdg
Thrombocytopenia ORPHA:370924
Pseudo-Torch Syndrome 3
Leukocytosis, Anemia, Congenital thrombocytopenia OMIM:618886
X-Linked Agammaglobulinemia
Anemia, Thrombocytopenia, Neutropenia, Recurrent cutaneous abscess formation ORPHA:47
Methylmalonic Aciduria, Cbla Type
Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:251100
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Neutropenia, Anemia, Lymphopenia, Thrombocytopenia OMIM:242900
Propionic Acidemia
Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:606054
Osteopetrosis, Autosomal Recessive 5
Anemia, Decreased osteoclast count, Splenomegaly, Extramedullary hematopoiesis, Pancytopenia, Thr... OMIM:259720
Hermansky-Pudlak Syndrome 5
Thrombocytopenia OMIM:614074
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Thrombocytopenia, Leukopenia OMIM:251000
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Thrombocytopenia, Megaloblastic anemia, Neutropenia OMIM:277380
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Thrombocytopenia, Anemia, Leukopenia OMIM:613845
Igg4-Related Pachymeningitis
Eosinophilia ORPHA:449427
Diffuse Alveolar Hemorrhage
Leukocytosis, Anemia, Thrombocytopenia ORPHA:90060
Beemer-Ertbruggen Syndrome
Thrombocytopenia ORPHA:1237
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Sp... OMIM:614700
Incontinentia Pigmenti
Eosinophilia ORPHA:464
Hemophagocytic Syndrome Associated With An Infection
Neutropenia, Anemia, Splenomegaly, Abnormal T cell subset distribution, Pancytopenia, Thrombocyto... ORPHA:158048
Gaucher Disease, Type I
Anemia, Splenomegaly, Hypersplenism, Pancytopenia, Thrombocytopenia OMIM:230800
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
B lymphocytopenia, Neutropenia, Leukopenia, Anemia, Bone marrow hypocellularity, Lymphopenia, Ret... ORPHA:508542
Dengue Fever
Thrombocytopenia, Leukopenia ORPHA:99828
Drug-Induced Lupus Erythematosus
Thrombocytopenia, Anemia ORPHA:231111
Hermansky-Pudlak Syndrome 2
Neutropenia, Enlarged platelet dense granules, Absent platelet dense granules, Splenomegaly, Redu... OMIM:608233
Boutonneuse Fever
Thrombocytopenia, Leukopenia ORPHA:83313
Necrotizing Enterocolitis
Leukocytosis, Neutropenia, Thrombocytopenia ORPHA:391673
Blue Rubber Bleb Nevus
Iron deficiency anemia, Thrombocytopenia OMIM:112200
Fanconi Anemia, Complementation Group E
Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia OMIM:600901
Transaldolase Deficiency
Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia OMIM:606003
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Anemia, Hepatosplenomegaly, Decreased proportion of memory B cells, Pancytopenia, Thrombocytopeni... ORPHA:79124
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Thrombocytopenia, Schistocytosis, Microangiopathic hemolytic anemia OMIM:274150
Hepatoportal Sclerosis
Leukopenia, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia ORPHA:64743
Shwachman-Diamond Syndrome 1
Neutropenia, Anemia, Persistence of hemoglobin F, Acute myeloid leukemia, Pancytopenia, Thrombocy... OMIM:260400
Wolfram Syndrome 1
Thrombocytopenia, Megaloblastic anemia, Sideroblastic anemia OMIM:222300
Coccidioidomycosis
Granuloma, Abnormality of the spleen, Eosinophilia, Abscess ORPHA:228123
Fanconi Anemia, Complementation Group A
Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia OMIM:227650
Lysosomal Acid Lipase Deficiency
Leukopenia, Bone-marrow foam cells, Anemia, Splenomegaly, Hypersplenism, Hepatosplenomegaly, Thro... OMIM:278000
Cog4-Cdg
Thrombocytopenia, Hepatosplenomegaly ORPHA:263501
Holocarboxylase Synthetase Deficiency
Thrombocytopenia ORPHA:79242
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Thrombocytopenia, Hypochromic microcytic anemia ORPHA:3240
Dyskeratosis Congenita, Autosomal Dominant 3
Leukopenia, Bone marrow hypocellularity, Pancytopenia, Thrombocytopenia, Aplastic anemia OMIM:613990
Familial Hemophagocytic Lymphohistiocytosis
Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis ORPHA:540
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Thrombocytopenia, Schistocytosis, Microangiopathic hemolytic anemia OMIM:235400
Kasabach-Merritt Syndrome
Neutropenia, Leukopenia, Microangiopathic hemolytic anemia, Anemia, Reticulocytosis, Thrombocytop... ORPHA:2330
Immunodeficiency With Hyper-Igm, Type 1
Thrombocytopenia, Hemolytic anemia, Neutropenia, Splenomegaly OMIM:308230
Pseudo-Torch Syndrome 2
Thrombocytopenia OMIM:617397
Lymphatic Filariasis
Hypereosinophilia ORPHA:2035
Ivic Syndrome
Leukocytosis, Thrombocytopenia ORPHA:2307
Mitochondrial Complex I Deficiency, Nuclear Type 20
Thrombocytopenia OMIM:611126
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Thrombocytopenia, Anemia, Splenomegaly OMIM:259700
Acquired Purpura Fulminans
Thrombocytopenia ORPHA:49566
Shwachman-Diamond Syndrome
Chronic neutropenia, Macrocytic anemia, Neutropenia, Normocytic anemia, Leukopenia, Increased mea... ORPHA:811
Dyskeratosis Congenita, Autosomal Dominant 1
Anemia, Bone marrow hypocellularity, Lymphopenia, Thrombocytopenia, Aplastic anemia OMIM:127550
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Neutropenia, Anemia, Bone marrow hypocellularity, Lymp... ORPHA:1830
Prolidase Deficiency
Thrombocytopenia, Anemia, Splenomegaly OMIM:170100
Igg4-Related Submandibular Gland Disease
Eosinophilia ORPHA:449432
Wilson Disease
Thrombocytopenia, Anemia, Splenomegaly ORPHA:905
Mucopolysaccharidosis-Plus Syndrome
Neutropenia, Leukopenia, Anemia, Bone marrow hypocellularity, Splenomegaly, Thrombocytopenia OMIM:617303
Combined Immunodeficiency Due To Crac Channel Dysfunction
Thrombocytopenia, Hemolytic anemia, Splenomegaly ORPHA:169090
Fanconi Anemia, Complementation Group C
Neutropenia, Leukemia, Anemia, Bone marrow hypocellularity, Reticulocytopenia, Pancytopenia, Thro... OMIM:227645
Hoyeraal-Hreidarsson Syndrome
Thrombocytopenia, Anemia, Bone marrow hypocellularity, Abnormal leukocyte morphology ORPHA:3322
Wiskott-Aldrich Syndrome
Neutropenia, Abnormal platelet function, Acute leukemia, Hypoplasia of the thymus, Chronic leukem... ORPHA:906
Gaucher Disease Type 1
Leukopenia, Anemia, Splenomegaly, Hypersplenism, Pancytopenia, Thrombocytopenia ORPHA:77259
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Thrombocytopenia, Splenomegaly OMIM:614576
Hemophagocytic Lymphohistiocytosis, Familial, 2
Leukopenia, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia, Hemophagocy... OMIM:603553
Smith-Kingsmore Syndrome
Thrombocytopenia OMIM:616638
Pseudo-Torch Syndrome 1
Thrombocytopenia, Splenomegaly OMIM:251290
Snakebite Envenomation
Thrombocytopenia ORPHA:449285
Hemophagocytic Lymphohistiocytosis, Familial, 1
Leukopenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis OMIM:267700
Good Syndrome
Thrombocytopenia, Anemia, Abnormal leukocyte morphology ORPHA:169105
Vexas Syndrome
Macrocytic anemia, Thrombocytopenia OMIM:301054
Mevalonic Aciduria
Fluctuating splenomegaly, Leukocytosis, Normocytic hypoplastic anemia, Anemia, Hepatosplenomegaly... OMIM:610377
Ebola Hemorrhagic Fever
Thrombocytopenia, Lymphopenia, Leukopenia ORPHA:319218
Shwachman-Diamond Syndrome 2
Thrombocytopenia, Normocytic anemia, Neutropenia OMIM:617941
Pediatric-Onset Graves Disease
Thrombocytopenia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies ORPHA:525731
Maternal Uniparental Disomy Of Chromosome 6
Thrombocytopenia ORPHA:96181
Alg8-Cdg
Thrombocytopenia, Anemia ORPHA:79325
Proteasome-Associated Autoinflammatory Syndrome 3
Thrombocytopenia, Anemia, Lymphopenia, Splenomegaly OMIM:617591
Pediatric Systemic Lupus Erythematosus
Thrombocytopenia, Leukopenia, Lymphopenia, Microangiopathic hemolytic anemia ORPHA:93552
Chédiak-Higashi Syndrome
Abnormal natural killer cell morphology, Neutropenia, Thrombocytopenia, Abnormal platelet functio... ORPHA:167
Sarcoidosis
Leukopenia, Increased T cell count, Anemia, Thrombocytopenia, Eosinophilia, Hemolytic anemia ORPHA:797
Holocarboxylase Synthetase Deficiency
Thrombocytopenia OMIM:253270
Blackfan-Diamond Anemia
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... ORPHA:124
Igg4-Related Kidney Disease
Eosinophilia ORPHA:449395
Mirage Syndrome
Leukopenia, Anemia, Lymphopenia, Thrombocytopenia, Hypoplastic spleen OMIM:617053
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Thrombocytopenia, Splenomegaly OMIM:251880
Sepsis In Premature Infants
Leukocytosis, Neutropenia, Anemia, Splenomegaly, Thrombocytopenia ORPHA:90051
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Thrombocytopenia, Normochromic anemia OMIM:618775
Igg4-Related Ophthalmic Disease
Eosinophilia ORPHA:449563
Overlap Myositis
Thrombocytopenia, Leukopenia ORPHA:206572
Avian Influenza
Thrombocytopenia, Lymphopenia, Leukopenia ORPHA:454836
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Thrombocytopenia, Leukopenia OMIM:301056
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas... OMIM:600903
Fanconi Anemia, Complementation Group F
Thrombocytopenia, Anemia, Bone marrow hypocellularity, Leukopenia OMIM:603467
Fetal And Neonatal Alloimmune Thrombocytopenia
Neonatal alloimmune thrombocytopenia ORPHA:853
Dyskeratosis Congenita, Autosomal Recessive 1
Thrombocytopenia, Aplastic anemia, Bone marrow hypocellularity OMIM:224230
Adams-Oliver Syndrome
Thrombocytopenia, Leukopenia ORPHA:974
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Leukocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia ORPHA:90038
Fanconi Anemia, Complementation Group B
Thrombocytopenia, Aplastic anemia OMIM:300514
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Thrombocytopenia, Megaloblastic anemia, Neutropenia OMIM:277400
Fanconi Anemia, Complementation Group D2
Neutropenia, Leukemia, Anemia, Bone marrow hypocellularity, Reticulocytopenia, Pancytopenia, Thro... OMIM:227646
Bacterial Toxic-Shock Syndrome
Thrombocytopenia, Abscess, Increased circulating myelocyte count, Increased circulating metamyelo... ORPHA:36234
Aicardi-Goutieres Syndrome 1
Thrombocytopenia, Splenomegaly OMIM:225750
Ivic Syndrome
Leukocytosis, Thrombocytopenia OMIM:147750
Noonan Syndrome 4
Thrombocytopenia OMIM:610733
Catastrophic Antiphospholipid Syndrome
Coombs-positive hemolytic anemia, Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:464343
Zika Virus Disease
Thrombocytopenia ORPHA:448237
Gaucher Disease, Perinatal Lethal
Thrombocytopenia, Hepatosplenomegaly, Anemia, Splenomegaly OMIM:608013
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Giant platelets, Impaired ristoce... ORPHA:274
Acyl-Coa Dehydrogenase 9 Deficiency
Thrombocytopenia ORPHA:99901
16Q24.3 Microdeletion Syndrome
Thrombocytopenia, Increased mean corpuscular volume ORPHA:261250
Shigellosis
Leukocytosis, Splenic abscess, Microangiopathic hemolytic anemia, Abscess, Thrombocytopenia ORPHA:810
Kaposiform Lymphangiomatosis
Anemia, Abnormal spleen morphology, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia ORPHA:464329
Hellp Syndrome
Thrombocytopenia, Hemolytic anemia, Microangiopathic hemolytic anemia, Decreased mean corpuscular... ORPHA:244242
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Increased mean platelet volume OMIM:616737
Lujo Hemorrhagic Fever
Leukocytosis, Lymphopenia, Leukopenia, Thrombocytopenia ORPHA:319213
Nijmegen Breakage Syndrome
B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Autoimmune hemolytic anemia OMIM:251260
Lathosterolosis
Thrombocytopenia, Anisopoikilocytosis, Abnormal platelet morphology ORPHA:46059
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Hepatosplenomegaly, Auto... ORPHA:391487
Diamond-Blackfan Anemia 1
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Congenital hypoplastic ... OMIM:105650
Tropical Endomyocardial Fibrosis
Eosinophilia, Splenomegaly ORPHA:75565
Farber Disease
Thrombocytopenia, Hepatosplenomegaly, Anemia ORPHA:333
Wars2-Related Combined Oxidative Phosphorylation Defect
Thrombocytopenia ORPHA:572798
21Q22.11Q22.12 Microdeletion Syndrome
Thrombocytopenia, Anemia ORPHA:261323
Caroli Syndrome
Leukocytosis, Leukopenia, Hypersplenism, Thrombocytopenia, Liver abscess ORPHA:480520
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Thrombocytopenia ORPHA:457351
Castleman Disease
Thrombocytopenia, Decreased mean corpuscular volume, Anemia ORPHA:160
Lysinuric Protein Intolerance
Leukopenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis OMIM:222700
Thrombocytopenia-Absent Radius Syndrome
Thrombocytopenia ORPHA:3320
Stevens-Johnson Syndrome
Thrombocytopenia, Anemia, Abnormality of neutrophils ORPHA:36426
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Leukopenia, Anemia, Bone marrow hypocellularity, Hepatosplenomegaly, Thrombocytopenia ORPHA:505248
Toxic Epidermal Necrolysis
Anemia, Thrombocytopenia, Neutropenia ORPHA:537
Immunodeficiency 47
Normocytic anemia, Leukopenia, Splenomegaly, Accessory spleen, Thrombocytopenia OMIM:300972
Q Fever
Anemia, Splenomegaly, Hepatosplenomegaly, Granuloma, Thrombocytopenia ORPHA:781
Alport Syndrome 1, X-Linked
Thrombocytopenia OMIM:301050
Gaucher Disease Type 3
Pancytopenia, Thrombocytopenia, Anemia, Splenomegaly ORPHA:77261
Mogs-Cdg
Thrombocytopenia, Hepatosplenomegaly ORPHA:79330
Neuroleptic Malignant Syndrome
Leukocytosis, Thrombocytopenia, Thrombocytosis ORPHA:94093
Tangier Disease
Thrombocytopenia, Hepatosplenomegaly, Anemia ORPHA:31150
Tick-Borne Encephalitis
Leukocytosis, Thrombocytopenia, Leukopenia ORPHA:297
Porphyria, Congenital Erythropoietic
Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:263700
Dubowitz Syndrome
Thrombocytopenia, Acute lymphoblastic leukemia, Anemia, Abnormality of neutrophils ORPHA:235
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Thrombocytopenia, Anemia, Bone marrow hypocellularity OMIM:612199
Alg12-Cdg
Thrombocytopenia, B lymphocytopenia ORPHA:79324
Osteopetrosis With Renal Tubular Acidosis
Leukopenia, Anemia, Bone marrow hypocellularity, Pancytopenia, Thrombocytopenia, Elliptocytosis ORPHA:2785
Cushing Disease
Leukocytosis, Lymphopenia, Decreased eosinophil count ORPHA:96253
Brucellosis
Leukocytosis, Thrombocytosis, Lung abscess, Leukopenia, Anemia, Splenomegaly, Hypersplenism, Gran... ORPHA:1304
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Thrombocytopenia, Megaloblastic anemia, Neutropenia ORPHA:79282
Congenital Erythropoietic Porphyria
Erythroid hyperplasia, Leukopenia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, T... ORPHA:79277
Viss Syndrome
Hypereosinophilia OMIM:619472
Paroxysmal Nocturnal Hemoglobinuria
Leukopenia, Erythroid hyperplasia, Anemia, Reticulocytosis, Pancytopenia, Thrombocytopenia, Hemol... ORPHA:447
Pearson Syndrome
Neutropenia, Anemia, Bone marrow hypocellularity, Splenomegaly, Reticulocytosis, Pancytopenia, Th... ORPHA:699
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Thrombocytopenia, Decreased hemoglobin concentration OMIM:619005
Fibular Hemimelia
Thrombocytopenia ORPHA:93323
Hepatocellular Carcinoma
Thrombocytosis, Polycythemia, Anemia, Thrombocytopenia, Liver abscess ORPHA:88673
Dyskeratosis Congenita
Anemia, Bone marrow hypocellularity, Splenomegaly, Thrombocytopenia, Abnormality of neutrophils ORPHA:1775
Immunodeficiency 87 And Autoimmunity
Lymphopenia, Decreased proportion of CD4-positive T cells, Decreased CD4:CD8 ratio, Thrombocytope... OMIM:619573
Nijmegen Breakage Syndrome
Thrombocytopenia, Hemolytic anemia, Acute leukemia, Autoimmune hemolytic anemia ORPHA:647
Kikuchi-Fujimoto Disease
Neutropenia, Leukopenia, Anemia, Splenomegaly, Lymphocytosis, Thrombocytopenia ORPHA:50918
Insulin-Resistance Syndrome Type B
Thrombocytopenia, Leukopenia ORPHA:2298
Rift Valley Fever
Thrombocytopenia, Anemia ORPHA:319251
Dyskeratosis Congenita, X-Linked
Leukopenia, Anemia, Bone marrow hypocellularity, Acute myeloid leukemia, Pancytopenia, Thrombocyt... OMIM:305000
Infection-Related Hemolytic Uremic Syndrome
Brain abscess, Leukocytosis, Hemolytic anemia, Thrombocytopenia ORPHA:544482
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Thrombocytopenia, Anemia ORPHA:163979
Marburg Hemorrhagic Fever
Leukopenia, Neutrophilia in presence of infection, Abnormal lymphocyte morphology, Lymphopenia, R... ORPHA:99826
Jacobsen Syndrome
Thrombocytopenia OMIM:147791
Primary Sjögren Syndrome
Normocytic anemia, Leukopenia, Normochromic anemia, Decreased proportion of CD4-positive helper T... ORPHA:289390
Deeah Syndrome
Thrombocytopenia, Decreased hemoglobin concentration OMIM:619004
Hemorrhagic Fever-Renal Syndrome
Leukocytosis, Anemia, Thrombocytopenia ORPHA:340
Cornelia De Lange Syndrome 1
Thrombocytopenia OMIM:122470
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Thrombocytopenia ORPHA:464321
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thrombocytopenia, Increased mean platelet volume ORPHA:487796
Crimean-Congo Hemorrhagic Fever
Leukocytosis, Leukopenia, Splenomegaly, Neutrophilia, Pancytopenia, Thrombocytopenia ORPHA:99827
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Abnormality of the spleen, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia ORPHA:2072
Fanconi Anemia
Thrombocytopenia, Anemia, Pyridoxine-responsive sideroblastic anemia, Leukopenia ORPHA:84
Jacobsen Syndrome
Thrombocytopenia, Bone marrow hypocellularity ORPHA:2308
Dermatomyositis
Abnormal eosinophil morphology ORPHA:221
Gaucher Disease
Pancytopenia, Thrombocytopenia, Anemia, Splenomegaly ORPHA:355
Lysinuric Protein Intolerance
Leukopenia, Anemia, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis ORPHA:470
Yellow Fever
Leukocytosis, Neutrophilia, Thrombocytopenia ORPHA:99829
Cushing Syndrome Due To Ectopic Acth Secretion
Leukocytosis, Lymphopenia, Decreased eosinophil count ORPHA:99889
Chronic Visceral Acid Sphingomyelinase Deficiency
Splenomegaly, Acute promyelocytic leukemia, Hypersplenism, Autoimmune thrombocytopenia, Thrombocy... ORPHA:77293
22Q11.2 Deletion Syndrome
Thrombocytopenia, Hypoplasia of the thymus, Abnormality of thrombocytes, Splenomegaly ORPHA:567
Congenital Disorder Of Glycosylation, Type Iiw
Thrombocytopenia, Microcytic anemia, Anemia, Splenomegaly OMIM:619525
Roberts Syndrome
Thrombocytopenia ORPHA:3103
Oculocerebrorenal Syndrome Of Lowe
Thrombocytopenia, Anemia ORPHA:534
Autosomal Recessive Polycystic Kidney Disease
Hypersplenism, Hepatosplenomegaly, Thrombocytopenia, Splenomegaly ORPHA:731
Proteasome-Associated Autoinflammatory Syndrome 1
Thrombocytopenia, Microcytic anemia, Splenomegaly OMIM:256040
Aicardi-Goutières Syndrome
Chronic lymphatic leukemia, Hepatosplenomegaly, Neonatal alloimmune thrombocytopenia ORPHA:51
Osteogenesis Imperfecta
Thrombocytopenia ORPHA:666
Hardikar Syndrome
Thrombocytopenia, Hepatosplenomegaly, Hypersplenism, Splenomegaly OMIM:301068
Exercise-Induced Malignant Hyperthermia
Thrombocytopenia ORPHA:466650
Igg4-Related Dacryoadenitis And Sialadenitis
Thrombocytopenia ORPHA:79078
Acute Liver Failure
Thrombocytopenia ORPHA:90062
Leptospirosis
Thrombocytopenia ORPHA:509
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 Herc6

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 Herc6.

No publications found that use IMPC mice or data for Herc6.

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MGI Allele Allele Type Produced
Herc6tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Herc6tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Herc6tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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