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Gene: Arhgap15 MGI:1923367

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Gene Summary

Name:
Rho GTPase activating protein 15
Synonyms:
5830480G12Rik

Order Alleles

IMPC Data Collections

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.

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Human diseases caused by Arhgap15 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 Arhgap15 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 21
Abnormal natural killer cell morphology, Neutropenia, Recurrent fungal infections, Recurrent vira... OMIM:614172
Immunodeficiency 18
Defective T cell proliferation, Recurrent otitis media, Decreased proportion of CD3-positive T ce... OMIM:615615
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections, Monocytopenia, Neutropenia ORPHA:86788
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent bacterial infections, Neutropenia, Recurrent fungal infections, Recurrent viral infecti... OMIM:614868
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia, Recurrent infections OMIM:617014
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Agammaglobulinemia, Neutropenia, Recurrent infections OMIM:615214
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent staphylococcal infections, Neutropenia, Recurrent strep... ORPHA:70592
Immunodeficiency 50
Neutropenia, Decreased circulating antibody level, Recurrent urinary tract infections, Lymphopeni... OMIM:300988
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media, Neutrop... OMIM:616022
Specific Granule Deficiency 1
Recurrent bacterial infections, Absent neutrophil lactoferrin, Absent neutrophil specific granule... OMIM:245480
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections, Neutropenia OMIM:300299
Immunodeficiency 8
Recurrent respiratory infections, Lymphopenia OMIM:615401
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent bronchitis, Recurrent ... OMIM:613501
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis OMIM:142630
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Adult Idiopathic Neutropenia
Recurrent bacterial infections, Neutropenia, Helicobacter pylori infection, Monocytosis, Recurren... ORPHA:2688
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Immunodeficiency 40
Lymphopenia OMIM:616433
Papular Xanthoma
Histiocytosis ORPHA:158008
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Recurrent infections, Histiocytosis OMIM:235900
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections, Hyposegmentation of neutrophil nuclei... OMIM:310350
Immunodeficiency 19
Recurrent respiratory infections, Recurrent otitis media, Lymphopenia OMIM:615617
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis ORPHA:158025
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Recurrent bronchopulmonary infections, Neutropenia ORPHA:90023
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections, Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocyto... OMIM:202700
Agammaglobulinemia 4, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent otitis media, Recurren... OMIM:613502
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Leukopenia, Anemia, Recurrent infections, Splenomegaly, Increased circulating antibo... OMIM:615285
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Benign Cephalic Histiocytosis
Histiocytosis ORPHA:157997
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Sepsis, Neutropenia, Leukopenia, Partial absence of specific antibody response... OMIM:618986
Immunodeficiency 24
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... OMIM:615897
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Recurrent bronchopulmonary infections, Neutropenia, Decreased circulating total IgM OMIM:610798
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... OMIM:242870
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections, Neutropenia, Decreased circulating IgA level, Impaired memory B c... OMIM:606843
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Trimethylaminuria
Anemia, Recurrent pneumonia, Neutropenia, Splenomegaly OMIM:602079
Reticular Dysgenesis
Sepsis, Lack of T cell function, Leukopenia, Impaired T cell function, Hypoplasia of the thymus, ... OMIM:267500
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Ras-Associated Autoimmune Leukoproliferative Disorder
Neutropenia, Monocytosis, Leukemia, Recurrent infections, Splenomegaly, Autoimmune thrombocytopen... OMIM:614470
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Immunodeficiency 46
Sepsis, Neutropenia, Recurrent sinopulmonary infections, Chronic oral candidiasis, Decreased circ... OMIM:616740
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity, Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis OMIM:608898
Whim Syndrome 1
Recurrent bacterial infections, Neutropenia, Decreased circulating IgG level, Decreased circulati... OMIM:193670
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... OMIM:247630
3-Methylglutaconic Aciduria, Type Vii
Neutropenia, Recurrent infections OMIM:616271
Transcobalamin Deficiency
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... ORPHA:859
Agammaglobulinemia 1, Autosomal Recessive
Recurrent bacterial infections, B lymphocytopenia, Agammaglobulinemia, Neutropenia, Decreased cir... OMIM:601495
Sea-Blue Histiocyte Disease
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Immunodeficiency 67
Increased circulating IgE level, Recurrent staphylococcal infections, Transient neutropenia, Recu... OMIM:607676
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Decreased circulating IgA level, De... OMIM:619281
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocy... OMIM:607624
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia, Recurrent respiratory infe... OMIM:233650
Fanconi Anemia, Complementation Group G
Leukemia, Thrombocytopenia, Neutropenia, Anemia OMIM:614082
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, B lymphocytopenia, Recurrent viral infections, Decreased circulat... ORPHA:169079
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Acute myeloi... OMIM:619041
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Increased circulating IgA level, Recurrent viral infections, Recurrent infections, I... ORPHA:169154
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Abscess, Chronic oral candidiasis, Recurr... OMIM:150550
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Agammaglobulinemia, Lymphopenia OMIM:200900
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Abnormal platelet function, Acute myelomonocytic leukemia, Decreased circulat... ORPHA:2585
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Reduced natural killer cell activity, Decreased circulating antibody level, Decrease... OMIM:308240
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Recurrent oral he... OMIM:619220
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Monocytosis, Refractory anemia, Bone marrow hypocellularity, Acute myeloid leukemia OMIM:616871
Immunodeficiency 55
Neutropenia, Recurrent infections OMIM:617827
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... OMIM:619374
Immunodeficiency By Defective Expression Of Mhc Class Ii
Neutropenia, Lack of T cell function, Recurrent herpes, Neutropenia in presence of anti-neutropil... ORPHA:572
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Increased circulating antibody level, Lymphopenia, Autoimmune hemolytic anemia OMIM:247800
Refractory Anemia
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Bone marrow hypocellulari... ORPHA:98826
Multicentric Reticulohistiocytosis
Histiocytosis ORPHA:139436
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Recurrent otitis media, Neutrophilia, Bronchiolitis OMIM:266265
Niemann-Pick Disease, Type B
Recurrent respiratory infections, Bone-marrow foam cells, Sea-blue histiocytosis, Splenomegaly OMIM:607616
Immunodeficiency 13
B lymphocytopenia, Recurrent otitis media, Recurrent upper respiratory tract infections, Recurren... OMIM:615518
Hemophagocytic Lymphohistiocytosis, Familial, 4
Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis OMIM:603552
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Immunodeficiency, Common Variable, 1
Recurrent bacterial infections, B lymphocytopenia, Decreased proportion of class-switched memory ... OMIM:607594
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Immunodeficiency 20
Recurrent oral herpes, Reduced natural killer cell activity, Recurrent otitis media, Recurrent vi... OMIM:615707
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... ORPHA:75564
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Sepsis, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T ... ORPHA:231154
Folate Malabsorption, Hereditary
Neutropenia, Leukopenia, Recurrent infections, Thrombocytopenia, Folate-responsive megaloblastic ... OMIM:229050
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... OMIM:618849
Diamond-Blackfan Anemia 4
Macrocytic anemia, Neutropenia, Reticulocytopenia, Erythroid hypoplasia OMIM:612527
Immunodeficiency 15A
Recurrent otitis media, Chronic mucocutaneous candidiasis, Decreased proportion of CD4-positive h... OMIM:618204
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Autosomal Dominant Severe Congenital Neutropenia
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Acute lymphobl... ORPHA:486
Immunodeficiency 84
Recurrent bacterial infections, B lymphocytopenia, Perianal abscess, Splenomegaly OMIM:619437
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto... OMIM:159550
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Recurrent respiratory infections, Neutropenia, Decreased circula... ORPHA:2643
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent E. coli infections, Recurrent Serratia marcescens infections, Splenomegaly, Impaired ox... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent E. coli infections, Recurrent Serratia marcescens infections, Splenomegaly, Impaired ox... OMIM:233710
Diamond-Blackfan Anemia 8
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612563
Bare Lymphocyte Syndrome, Type Ii
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent protozoan infections, ... OMIM:209920
Immunodeficiency 52
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Decreased circulat... OMIM:617514
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia, Bone marrow hypocellularity OMIM:617243
Immunodeficiency 76
B lymphocytopenia, Splenomegaly, Recurrent pneumonia, Lymphopenia, Recurrent bronchiolitis, T lym... OMIM:619164
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, Recurrent upper respiratory tract infection... OMIM:618806
Immunodeficiency 14A, Autosomal Dominant
Decreased specific pneumococcal antibody level, Increased proportion of transitional B cells, Dec... OMIM:615513
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Recurrent otitis media, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic anemia,... ORPHA:444463
Granulomatous Disease, Chronic, X-Linked
Recurrent E. coli infections, Recurrent Serratia marcescens infections, Splenomegaly, Impaired ox... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent E. coli infections, Recurrent Serratia marcescens infections, Splenomegaly, Impaired ox... OMIM:233690
Poikiloderma With Neutropenia
Neutropenia, Recurrent otitis media, Splenomegaly, Recurrent pneumonia, Recurrent sinusitis OMIM:604173
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia, Recurrent infections, Recurrent otitis media OMIM:616941
Cd8 Deficiency, Familial
Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections, Abs... OMIM:608957
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Decreased circulating antibody level, Anemia, Abnormal natural killer cell physiology, Splenomega... OMIM:613101
Specific Granule Deficiency 2
Recurrent bacterial infections, Sepsis, Neutropenia, Absent neutrophil specific granules, Recurre... OMIM:617475
Idiopathic Aplastic Anemia
Neutropenia, Anemia, Bone marrow hypocellularity, Recurrent infections, Reticulocytopenia, Pancyt... ORPHA:88
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Recurrent respiratory infections, Neutropenia, Decreased circula... OMIM:251190
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Gm1-Gangliosidosis, Type Ii
Sea-blue histiocytosis OMIM:230600
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Neutropenia, Recurrent infections OMIM:617056
Lichtenstein Syndrome
Decreased circulating IgA level, Recurrent respiratory infections, Neutropenia, Recurrent infections OMIM:246550
Hemochromatosis, Type 3
Anemia, Neutropenia, Lymphopenia OMIM:604250
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Lack of T cell function, Recurrent opportunistic infections, Recurrent otitis ... ORPHA:277
Wolfram Syndrome, Mitochondrial Form
Thrombocytopenia, Megaloblastic anemia, Neutropenia, Sideroblastic anemia OMIM:598500
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Recurrent infections, Decreased circulating total IgM, Splenomegaly OMIM:606445
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia OMIM:183350
Lymphoproliferative Syndrome 3
Decreased circulating antibody level, Recurrent infections, Reduced natural killer cell count, He... OMIM:618261
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, T lymphocytopenia, Recurrent opportunistic i... OMIM:608971
Barth Syndrome
Granulocytopenia, Recurrent infections in infancy and early childhood, Neutropenia OMIM:302060
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Abscess, Recurrent infections, Onychomycosis, Splenomegaly, Perianal abscess, Hepatosplenomegaly,... OMIM:618935
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Immunodeficiency, Common Variable, 3
Recurrent bacterial infections, Decreased proportion of class-switched memory B cells, Reduced is... OMIM:613493
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Neutropenia, Congenital thrombocytopenia OMIM:616738
Lymphoproliferative Syndrome, X-Linked, 2
Decreased circulating antibody level, Recurrent infections, Splenomegaly, Pancytopenia, Recurrent... OMIM:300635
Necrobiosis Lipoidica
Granuloma, Abnormality of neutrophil physiology ORPHA:542592
Slc35A1-Cdg
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia ORPHA:238459
Onychotrichodysplasia And Neutropenia
Chronic neutropenia, Lymphocytosis, Neutropenia, Recurrent infections OMIM:258360
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Thrombocytopenia, Sepsis, Neutropenia ORPHA:289916
Immunodeficiency With Hyper-Igm, Type 1
Recurrent bacterial infections, Sepsis, Neutropenia, Decreased circulating IgA level, Impaired me... OMIM:308230
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial infections, Sepsis, Decreased proportion of naive T cells, Recurrent opportun... ORPHA:276
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating total IgA, Recurrent herpes, Failure to thrive secondary to recurrent infec... ORPHA:169160
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level, Neutropenia OMIM:600351
Chediak-Higashi Syndrome
Neutropenia, Leukopenia, Abnormal dense granules, Giant neutrophil granules, Anemia, Splenomegaly... OMIM:214500
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circul... OMIM:616873
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent bacterial infections, Sepsis, Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the t... OMIM:612541
Retinal Venous Beading
Neutropenia OMIM:180080
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Anemia, Splenomegaly, Acute myeloid leukemia, Hepatosp... ORPHA:158057
3-Methylglutaconic Aciduria, Type Viii
Neutropenia OMIM:617248
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections, Neutropenia, Decreased platelet glycoprotein Ib, Thrombocytopenia... OMIM:603585
Griscelli Syndrome Type 2
Pancytopenia, Hemophagocytosis, Neutropenia, Splenomegaly ORPHA:79477
Pgm3-Cdg
Sepsis, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Recurrent infections, ... ORPHA:443811
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia OMIM:167850
Immunodeficiency 36
Recurrent bacterial infections, Chronic lymphatic leukemia, Decreased circulating antibody level,... OMIM:616005
Felty Syndrome
Sepsis, Neutropenia, Abnormal lymphocyte morphology, Anemia, Bone marrow hypocellularity, Recurre... ORPHA:47612
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Macrocytic anemia, Megaloblastic anemia, Decreased circulating antibody level, Re... OMIM:617780
Glutamate Formiminotransferase Deficiency
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei OMIM:229100
Lymphoproliferative Syndrome 2
Sepsis, Decreased circulating antibody level, Recurrent infections, Splenomegaly, Hepatosplenomeg... OMIM:615122
Pelger-Huet Anomaly
Neutropenia, Recurrent otitis media, Hyposegmentation of neutrophil nuclei, Giant platelets, Thro... OMIM:169400
Developmental And Epileptic Encephalopathy 66
Anemia, Neutropenia OMIM:618067
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... OMIM:601859
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Decreased circula... OMIM:300400
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent bacterial infections, Abnormal B cell count, Decreased circulating IgA level, Recurrent... ORPHA:331206
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Microcytic anemia, Neutropenia OMIM:251900
Diamond-Blackfan Anemia 11
Anemia, Neutropenia, Bone marrow hypocellularity, Anemia of inadequate production OMIM:614900
Immunodeficiency 31C
Recurrent respiratory infections, Lymphopenia, Chronic mucocutaneous candidiasis, Autoimmune hemo... OMIM:614162
Holoprosencephaly, Recurrent Infections, And Monocytosis
Recurrent infections, Monocytosis OMIM:610680
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Spontaneous hemolytic crises, Nonspherocytic hemolytic... OMIM:613470
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Mastocytosis, Abnormal mast cell morphology, Splenomegaly ORPHA:98848
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Mastocytosis, Cutaneous
Cutaneous mastocytosis OMIM:154800
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
Sebastian syndrome
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:605249
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Anemia, Increased circulating IgG level, Splenomegaly, Hepatospleno... OMIM:209950
Macrocephaly/Autism Syndrome
Decreased circulating antibody level, Recurrent infections, Lymphopenia, Splenomegaly OMIM:605309
Cyclic Neutropenia
Sepsis, Perianal abscess, Lymphopenia, Cyclic neutropenia, Recurrent tonsillitis, Thrombocytopeni... ORPHA:2686
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Anemia, Abnormal mast cell morphology, Hep... ORPHA:98850
Autosomal Agammaglobulinemia
Sepsis, Agammaglobulinemia, Neutropenia, Recurrent infections, Recurrent respiratory infections ORPHA:33110
Purine Nucleoside Phosphorylase Deficiency
Recurrent bacterial infections, Recurrent opportunistic infections, Neutropenia in presence of an... OMIM:613179
Transcobalamin Ii Deficiency
Macrocytic anemia, Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:275350
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Pyoderma, Recurrent bronchopulmonary infections, Aplasia of the thymu... OMIM:242700
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Thrombocytopenia, Neutropenia, Splenomegaly ORPHA:79312
Aregenerative Anemia
Neutropenia, Abnormal proportion of CD8-positive T cells, Bone marrow hypocellularity, Erythroid ... ORPHA:101096
Leishmaniasis
Leukopenia, Anemia, Splenomegaly, Abnormal macrophage morphology, Increased circulating antibody ... ORPHA:507
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, Recurrent viral infections, Onychomycosis, Increased circulating IgE level, Re... ORPHA:217390
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Recurrent opportunistic infections, Failure to thrive secondary to recurrent i... OMIM:601457
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Reduced natural killer cell cou... OMIM:619510
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, B lymphocytopenia, Sepsis, Decreased proportion of class-switched memory B c... OMIM:614700
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Cutaneous anergy, Recurrent otitis me... OMIM:600802
Congenital Enterovirus Infection
Leukocytosis, Sepsis, Neutropenia, Leukopenia, Anemia, Abnormal macrophage morphology, Thrombocyt... ORPHA:292
Immunodeficiency 25
Recurrent herpes, Complete or near-complete absence of specific antibody response to tetanus vacc... OMIM:610163
Chédiak-Higashi Syndrome
Recurrent bacterial infections, Abnormal natural killer cell morphology, Neutropenia, Thrombocyto... ORPHA:167
Immunodeficiency 91 And Hyperinflammation
Monocytosis, Recurrent lower respiratory tract infections, Neutrophilia, Hepatosplenomegaly, Recu... OMIM:619644
Immunodeficiency 23
Neutropenia, Abscess, Increased circulating IgG level, Chronic mucocutaneous candidiasis, Increas... OMIM:615816
Imerslund-Gräsbeck Syndrome
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... ORPHA:35858
Hermansky-Pudlak Syndrome 2
Recurrent bacterial infections, Neutropenia, Enlarged platelet dense granules, Reduced natural ki... OMIM:608233
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Decreased circulating IgG level, Neutropenia, Recurrent infections OMIM:608809
Macrophage Activation Syndrome
Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis, Abnormal natural killer ce... ORPHA:158061
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent infection of the gastrointestinal tract, B lymphocytopenia, Impaired lymphocyte transfo... ORPHA:35078
X-Linked Agammaglobulinemia
Sepsis, Agammaglobulinemia, Neutropenia, Recurrent cutaneous abscess formation, Anemia, Recurrent... ORPHA:47
Neonatal Alloimmune Neutropenia
Sepsis, Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Neutropenia, Abnormal immunoglobulin level, Anemia, Recurrent infecti... OMIM:242900
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hemophagocytosis, Anemia, Splenomegaly OMIM:618398
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia OMIM:152800
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Thrombocytosis, Macrocytic anemia, Leukopenia, Bone marrow hypocellularity, Erythroid hypoplasia,... ORPHA:86841
Letterer-Siwe Disease
Anemia, Thrombocytopenia, Hepatosplenomegaly, Neutropenia OMIM:246400
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Sepsis, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating a... OMIM:616100
Sea-Blue Histiocytosis
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly ORPHA:158029
Tubulointerstitial Nephritis With Uveitis
Non-caseating epithelioid cell granulomatosis OMIM:607665
Acrokeratoelastoidosis Of Costa
Granulomatosis ORPHA:38
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Anemia, Thrombocytopenia, Neutropenia OMIM:614857
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Decreased circulating antibody level, Reduced natural killer cell count, Peria... OMIM:618108
Immunodeficiency 68
B lymphocytopenia, Sepsis, Abscess, T lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Neutropenia, Coombs-positive hemolytic anemia, Anemia, Increased circulating IgE level, Autoimmun... OMIM:304790
Cartilage-Hair Hypoplasia
Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Neutropenia, Conge... OMIM:250250
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
B lymphocytopenia, Neutropenia, Leukopenia, Anemia, Bone marrow hypocellularity, Recurrent lower ... ORPHA:508542
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Anemia, Thrombocytopenia, Neutropenia, Bone marrow hypocellularity OMIM:614520
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:603909
Neonatal Lupus Erythematosus
Hemolytic anemia, Neutropenia, Anemia, Splenomegaly, Pancytopenia, Thrombocytopenia, Aplastic anemia ORPHA:398124
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Recurrent bacterial infections, B lymphocytopenia, Decreased circulating IgA level, Recurrent fun... OMIM:102700
Hemophagocytic Syndrome Associated With An Infection
Neutropenia, Anemia, Splenomegaly, Abnormal T cell subset distribution, Pancytopenia, Thrombocyto... ORPHA:158048
Necrotizing Enterocolitis
Leukocytosis, Neutropenia, Thrombocytopenia, Neonatal sepsis ORPHA:391673
Evans Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... ORPHA:1959
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Acute leukemia, Bone marrow hypocellularity, Splenomegaly, Myeloproliferative disor... ORPHA:3226
Selective Igm Deficiency
Sepsis, Recurrent herpes, Neutropenia in presence of anti-neutropil antibodies, Recurrent infecti... ORPHA:331235
Autoinflammatory Syndrome, Familial, Behcet-Like
Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
Whim Syndrome
Recurrent bacterial infections, Sepsis, Neutropenia, Decreased circulating antibody level, Recurr... ORPHA:51636
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Hepatosplenomegaly, Hemophagocytosis ORPHA:86884
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent bacterial infections, Recurrent opportunistic infections, Decreased circulating IgA lev... ORPHA:275
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Abnormal macrophage morphology ORPHA:353
Acute Promyelocytic Leukemia
Leukocytosis, Neutropenia, Leukopenia, Anemia, Pancytopenia, Thrombocytopenia ORPHA:520
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Lymphopenia ORPHA:1116
Mucopolysaccharidosis-Plus Syndrome
Sepsis, Neutropenia, Leukopenia, Recurrent bronchopulmonary infections, Anemia, Bone marrow hypoc... OMIM:617303
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280785
Diamond-Blackfan Anemia 7
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume, Recurrent otitis media, Recurr... OMIM:612562
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Neutropenia in presence of anti-neutropil antibodies, Decreased circulating antibody level, Recur... OMIM:615952
Methylmalonic Aciduria, Cblb Type
Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:251110
Familial Hemophagocytic Lymphohistiocytosis
Neutropenia, Reduced natural killer cell activity, Decreased circulating antibody level, Anemia, ... ORPHA:540
X-Linked Lymphoproliferative Disease
Decreased circulating antibody level, Splenomegaly, Absent natural killer cells, Dysgammaglobulin... ORPHA:2442
Hermansky-Pudlak Syndrome 10
Recurrent respiratory infections, Neutropenia, Splenomegaly OMIM:617050
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Recurrent infections, Decreased proportion of CD3-positive T cells, A... ORPHA:760
Shwachman-Diamond Syndrome
Chronic neutropenia, Macrocytic anemia, Sepsis, Recurrent bacterial infections, Neutropenia, Norm... ORPHA:811
Cohen Syndrome
Neutropenia, Leukopenia OMIM:216550
Shwachman-Diamond Syndrome 1
Neutropenia, Anemia, Recurrent infections, Persistence of hemoglobin F, Acute myeloid leukemia, P... OMIM:260400
Methylmalonic Acidemia With Homocystinuria Type Cblf
Megaloblastic anemia, Neutropenia, Recurrent infections ORPHA:79284
Methylmalonic Aciduria, Cbla Type
Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:251100
Dohle Bodies And Leukemia
Acute myeloid leukemia, Anemia, Leukocyte inclusion bodies OMIM:223350
Propionic Acidemia
Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:606054
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Thrombocytopenia, Megaloblastic anemia, Neutropenia OMIM:277380
Icf Syndrome
Decreased circulating antibody level, Anemia, Lymphopenia, Recurrent respiratory infections, Abno... ORPHA:2268
Shwachman-Diamond Syndrome 2
Thrombocytopenia, Normocytic anemia, Neutropenia, Recurrent infections OMIM:617941
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo... ORPHA:98849
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Neutropenia, Impaired T cell function, Anemia, Bone ma... ORPHA:1830
Methylcobalamin Deficiency Type Cble
Pancytopenia, Macrocytic anemia, Neutropenia, Increased mean corpuscular volume ORPHA:2169
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Neutropenia, Recurrent infections ORPHA:1667
3-Methylglutaconic Aciduria Type 7
Infection associated neutropenia, Neutropenia, Bone marrow hypocellularity ORPHA:445038
Spondyloenchondrodysplasia With Immune Dysregulation
Neutropenia, Recurrent otitis media, Autoimmune thrombocytopenia, Lymphopenia, Recurrent respirat... OMIM:607944
Noonan Syndrome 12
Thrombocytopenia, Lymphopenia OMIM:618624
Leukocyte Adhesion Deficiency
Recurrent bacterial infections, Leukocytosis, Thrombocytosis, Sepsis, Polycythemia, Recurrent fun... ORPHA:2968
Fanconi Anemia, Complementation Group I
Neutropenia, Bone marrow hypocellularity OMIM:609053
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Anemia, Liver abscess ORPHA:54251
Kasabach-Merritt Syndrome
Neutropenia, Leukopenia, Microangiopathic hemolytic anemia, Anemia, Reticulocytosis, Thrombocytop... ORPHA:2330
Aspergillosis
Increased circulating IgE level, Eosinophilia, Neutropenia ORPHA:1163
Fanconi Anemia, Complementation Group E
Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia OMIM:600901
Niemann-Pick Disease, Type A
Bone-marrow foam cells, Splenomegaly, Microcytic anemia, Recurrent respiratory infections, Sea-bl... OMIM:257200
Fusariosis
Brain abscess, Abnormality of the spleen, Neutropenia, Lung abscess, Onychomycosis, Lymphopenia, ... ORPHA:228119
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Neutropenia, Recurrent infections OMIM:615471
Fanconi Anemia, Complementation Group A
Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia OMIM:227650
Sepsis In Premature Infants
Leukocytosis, Neutropenia, Anemia, Splenomegaly, Neonatal sepsis, Thrombocytopenia ORPHA:90051
Wiskott-Aldrich Syndrome
Sepsis, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent herpes, Decreased c... OMIM:301000
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Neut... OMIM:617099
Leukocyte Adhesion Deficiency, Type I
Recurrent bacterial infections, Leukocytosis, Recurrent staphylococcal infections, Rectal abscess... OMIM:116920
Ataxia-Telangiectasia
Recurrent respiratory infections, Decreased circulating antibody level, Lymphopenia ORPHA:100
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia OMIM:614204
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Sepsis, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Iron deficiency anemia... ORPHA:37042
Glycogen Storage Disease Ib
Recurrent bacterial infections, Neutropenia OMIM:232220
Immunodeficiency 49
Eosinophilia, Lymphopenia OMIM:617237
Fanconi Anemia, Complementation Group C
Neutropenia, Leukemia, Anemia, Bone marrow hypocellularity, Reticulocytopenia, Pancytopenia, Thro... OMIM:227645
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay
Anemia, Acute myeloid leukemia, Neutropenia, Recurrent infections OMIM:601347
Wiskott-Aldrich Syndrome
Sepsis, Neutropenia, Abnormal platelet function, Acute leukemia, Hypoplasia of the thymus, Chroni... ORPHA:906
Adult-Onset Still Disease
Leukocytosis, Bone marrow hypocellularity, Splenomegaly, Neutrophilia, Recurrent pharyngitis ORPHA:829
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Neutropenia OMIM:618005
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas... OMIM:600903
Pneumocystosis
Abnormal neutrophil count, Chronic oral candidiasis, Increased circulating antibody level ORPHA:723
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Relapsing Fever
Leukocytosis, Leukopenia, Anemia, Neutrophilia, Thrombocytopenia ORPHA:91547
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia ORPHA:1302
Ebola Hemorrhagic Fever
Sepsis, Leukopenia, Increased circulating antibody level, Lymphopenia, Thrombocytopenia ORPHA:319218
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Leukopenia, Increased circulating IgA level, Anemia, Increased circulating IgG le... OMIM:615934
Niemann-Pick Disease, Type C1
Bone-marrow foam cells, Sea-blue histiocytosis, Splenomegaly OMIM:257220
Herpes Simplex Virus Encephalitis
Leukocytosis, Neutrophilia ORPHA:1930
Staphylococcal Necrotizing Pneumonia
Leukocytosis, Sepsis, Neutrophilia, Leukopenia ORPHA:36238
Toxic Epidermal Necrolysis
Sepsis, Neutropenia, Anemia, Thrombocytopenia, Recurrent respiratory infections ORPHA:537
Hemophagocytic Lymphohistiocytosis, Familial, 2
Leukopenia, Reduced natural killer cell activity, Anemia, Splenomegaly, Hepatosplenomegaly, Pancy... OMIM:603553
Niemann-Pick Disease, Type C2
Bone-marrow foam cells, Sea-blue histiocytosis, Splenomegaly OMIM:607625
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Thrombocytopenia, Megaloblastic anemia, Neutropenia OMIM:277400
Hemophagocytic Lymphohistiocytosis, Familial, 1
Leukopenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis OMIM:267700
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... ORPHA:3261
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Recurrent respiratory infections, Agammaglobulinemia, Anemia, Lymphopenia ORPHA:935
Blackfan-Diamond Anemia
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... ORPHA:124
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Recurrent infections, Splenomegaly, Increased circulating antibody level, Lymphopenia, Th... OMIM:617591
Hyper-Igd Syndrome
Leukocytosis, Increased circulating IgA level, Chronic oral candidiasis, Recurrent infections, Sp... OMIM:260920
Osteopetrosis, Autosomal Recessive 5
Anemia, Decreased osteoclast count, Splenomegaly, Extramedullary hematopoiesis, Pancytopenia, Thr... OMIM:259720
Ataxia-Telangiectasia
Recurrent bronchitis, Leukemia, Decreased circulating IgA level, Hypoplasia of the thymus, Defect... OMIM:208900
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
B lymphocytopenia, Recurrent herpes, Neutropenia in presence of anti-neutropil antibodies, Recurr... ORPHA:391487
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Decreased circulating antibody level, Recurrent infections, Lymphopenia OMIM:617425
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia ORPHA:391307
Fanconi Anemia, Complementation Group D2
Neutropenia, Leukemia, Anemia, Bone marrow hypocellularity, Reticulocytopenia, Pancytopenia, Thro... OMIM:227646
Mirage Syndrome
Recurrent bacterial infections, Sepsis, Leukopenia, Anemia, Recurrent urinary tract infections, L... OMIM:617053
Mastocytosis
Chronic leukemia, Mastocytosis, Acute leukemia, Splenomegaly ORPHA:98292
Trichothiodystrophy
Neutropenia, Recurrent bronchopulmonary infections, Anemia, Recurrent infections, Panhypogammaglo... ORPHA:33364
Primary Intestinal Lymphangiectasia
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... ORPHA:90362
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Neutropenia in presence of anti-neutropil antibodies, Recurrent infections, Hypersplenism, Hepato... ORPHA:228426
X-Linked Intellectual Disability, Nascimento Type
Recurrent respiratory infections, Neutropenia, Recurrent ear infections, Recurrent cutaneous absc... ORPHA:163956
Common Variable Immunodeficiency
Recurrent bronchitis, Decreased circulating antibody level, Splenomegaly, Autoimmune thrombocytop... ORPHA:1572
Sweet Syndrome
Leukocytosis, Chronic lymphatic leukemia, Sterile abscess, Anemia, Recurrent infections, Neutroph... ORPHA:3243
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Neutropenia OMIM:271510
Popov-Chang syndrome
Decreased circulating antibody level, Lymphopenia, Recurrent otitis media OMIM:618428
Cohen Syndrome
Neutropenia ORPHA:193
Graft Versus Host Disease
Hepatosplenomegaly, Hemophagocytosis, Recurrent infections, Recurrent gastroenteritis ORPHA:39812
Rothmund-Thomson Syndrome
Leukemia, Aplastic anemia, Neutropenia, Anemia ORPHA:2909
Nephrotic Syndrome, Type 14
Lymphopenia OMIM:617575
Hermansky-Pudlak Syndrome
Neutropenia ORPHA:79430
Leigh Syndrome
Anemia, Neutropenia ORPHA:506
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Leukopenia, Aplasia/Hypoplasia of the spleen, Decreased circulating antibody l... ORPHA:227990
Diamond-Blackfan Anemia 1
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Congenital hypoplastic ... OMIM:105650
Legionnaires Disease
Sepsis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Recurrent pharyngitis ORPHA:549
Rothmund-Thomson Syndrome Type 1
Leukemia, Aplastic anemia, Neutropenia, Anemia ORPHA:221008
Pediatric-Onset Graves Disease
Thrombocytopenia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies ORPHA:525731
Kikuchi-Fujimoto Disease
Neutropenia, Leukopenia, Anemia, Splenomegaly, Lymphocytosis, Thrombocytopenia ORPHA:50918
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Neutrophilia, Abscess, Splenomegaly OMIM:612852
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Thrombocytopenia, Megaloblastic anemia, Neutropenia ORPHA:79282
Dyskeratosis Congenita, Autosomal Dominant 1
Anemia, Bone marrow hypocellularity, Lymphopenia, Thrombocytopenia, Aplastic anemia OMIM:127550
Rothmund-Thomson Syndrome Type 2
Leukemia, Aplastic anemia, Neutropenia, Anemia ORPHA:221016
Avian Influenza
Thrombocytopenia, Sepsis, Lymphopenia, Leukopenia ORPHA:454836
Cartilage-Hair Hypoplasia
Anemia, Decreased circulating antibody level, Neutropenia ORPHA:175
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukocytosis, Thrombocytosis, Leukopenia, Decreased circulating antibody level, Anemia, Bone marr... OMIM:615688
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Chronic neutropenia, Recurrent bacterial infections, Abnormal myeloid leukocyte morphology, Anemia ORPHA:79259
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Leukopenia, Aplasia/Hypoplasia of the spleen, Decreased circulating antibody l... ORPHA:227982
Lysinuric Protein Intolerance
Leukopenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis OMIM:222700
H Syndrome
Recurrent pharyngitis, Hepatosplenomegaly, Microcytic anemia, Histiocytosis ORPHA:168569
Pearson Syndrome
Neutropenia, Anemia, Bone marrow hypocellularity, Splenomegaly, Reticulocytosis, Pancytopenia, Th... ORPHA:699
Leukocyte Adhesion Deficiency Type Ii
Leukocytosis, Abnormal isohemagglutinin level, Recurrent otitis media, Anemia, Recurrent infectio... ORPHA:99843
Aspartylglucosaminuria
Vacuolated lymphocytes, Recurrent respiratory infections, Neutropenia OMIM:208400
Pediatric Systemic Lupus Erythematosus
Thrombocytopenia, Leukopenia, Lymphopenia, Microangiopathic hemolytic anemia ORPHA:93552
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Chronic neutropenia, Transient neutropenia ORPHA:500095
Listeriosis
Brain abscess, Sepsis, Splenic abscess, Abscess, Abnormal cellular immune system morphology, Hepa... ORPHA:533
Granulomatosis With Polyangiitis
Granulomatosis OMIM:608710
Hennekam-Beemer Syndrome
Mastocytosis ORPHA:2135
Cowden Syndrome 1
Decreased circulating antibody level, Recurrent infections, Lymphopenia OMIM:158350
Zygomycosis
Brain abscess, Splenic abscess, Neutropenia ORPHA:73263
Immunodeficiency 87 And Autoimmunity
Recurrent bacterial infections, Sepsis, Recurrent fungal infections, Recurrent viral infections, ... OMIM:619573
Say-Barber-Miller Syndrome
Abnormal T cell morphology, Transient hypogammaglobulinemia of infancy, Decreased circulating IgG... ORPHA:3132
Familial Mediterranean Fever
Leukocytosis, Neutrophilia, Splenomegaly OMIM:249100
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased circulating antibody level, Increased circulating IgE ... ORPHA:508533
Secondary Intestinal Lymphangiectasia
Decreased circulating IgA level, Decreased circulating antibody level, Recurrent infections, Decr... ORPHA:90363
Lysinuric Protein Intolerance
Recurrent bacterial infections, Leukopenia, Decreased circulating antibody level, Anemia, Hepatos... ORPHA:470
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Histiocytosis, Splenomegaly OMIM:602782
Sponastrime Dysplasia
Recurrent pneumonia, Decreased circulating antibody level, Neutropenia ORPHA:93357
Short Stature, Microcephaly, And Endocrine Dysfunction
Anemia, Lymphopenia OMIM:616541
Syndromic Diarrhea
Thrombocytosis, Increased mean platelet volume, Hypoplasia of the thymus, Recurrent infections, S... ORPHA:84064
Lujo Hemorrhagic Fever
Leukocytosis, Lymphopenia, Leukopenia, Thrombocytopenia ORPHA:319213
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anemia, Sepsis, Neutropenia ORPHA:95455
Granulomatosis With Polyangiitis
Granulomatosis, Recurrent respiratory infections ORPHA:900
Idiopathic Hypereosinophilic Syndrome
Leukocytosis, Thrombocytosis, Anemia, Splenomegaly, Myeloproliferative disorder, Hepatosplenomega... ORPHA:3260
Japanese Encephalitis
Neutrophilia, Increased circulating antibody level, Increased circulating IgM level ORPHA:79139
Hennekam Syndrome
Recurrent respiratory infections, Decreased circulating antibody level, Lymphopenia, Splenomegaly ORPHA:2136
Primary Sjögren Syndrome
Normocytic anemia, Leukopenia, Normochromic anemia, Decreased circulating antibody level, Increas... ORPHA:289390
Marburg Hemorrhagic Fever
Leukopenia, Neutrophilia in presence of infection, Abnormal lymphocyte morphology, Increased circ... ORPHA:99826
Yellow Fever
Leukocytosis, Increased circulating IgM level, Neutrophilia, Thrombocytopenia ORPHA:99829
Cushing Disease
Leukocytosis, Recurrent cutaneous fungal infections, Lymphopenia, Decreased eosinophil count ORPHA:96253
Crimean-Congo Hemorrhagic Fever
Leukocytosis, Leukopenia, Increased circulating IgG level, Splenomegaly, Neutrophilia, Increased ... ORPHA:99827
Cushing Syndrome Due To Ectopic Acth Secretion
Leukocytosis, Recurrent cutaneous fungal infections, Lymphopenia, Decreased eosinophil count ORPHA:99889
Pmm2-Cdg
Impaired neutrophil chemotaxis ORPHA:79318

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 Arhgap15

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 Arhgap15.

No publications found that use IMPC mice or data for Arhgap15.

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MGI Allele Allele Type Produced
Arhgap15tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Arhgap15em1(IMPC)Hmgu Exon Deletion Mice
Arhgap15tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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