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Gene: Cerk MGI:2386052

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
ceramide kinase
Synonyms:
D330016D08Rik

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Cerk 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 Cerk by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent respiratory infections, Recurrent bacterial infections, Neutropenia, Recurrent otitis m... OMIM:616022
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Neutropenia, Recurrent staphylococcal infections, Recurrent strep... ORPHA:70592
Psychogenic Movement Disorders
Gait disturbance ORPHA:71519
Benign Hereditary Chorea
Gait disturbance ORPHA:1429
Myelolymphatic Insufficiency
Recurrent bacterial infections, Hyposegmentation of neutrophil nuclei, Leukopenia, Recurrent vira... OMIM:310350
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia, Recurrent infections OMIM:617014
Whim Syndrome 2
Severe infection, Recurrent gingivitis, Chronic neutropenia OMIM:619407
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N... OMIM:617585
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Recurrent bacterial infections, Absent circulating B cells, Neutropen... OMIM:613501
Immunodeficiency 50
Recurrent respiratory infections, Recurrent urinary tract infections, Lymphopenia, Neutropenia OMIM:300988
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent Klebsiella infections, Disseminated cryptosporidium infection, Failur... OMIM:614372
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, T lymphocytopenia, Recurrent candida infections OMIM:242870
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Recurrent bacterial infection... OMIM:202700
Immunodeficiency 46
Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Neutropenia, Sepsis, Chronic o... OMIM:616740
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Recurrent bronchopulmonary infections, Neutropenia ORPHA:90023
X-Linked Severe Congenital Neutropenia
Monocytopenia, Recurrent bacterial infections, Neutropenia ORPHA:86788
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Recurrent infections, Anemia, Leukopenia, Neutropenia... OMIM:615285
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Recurrent bacterial infections, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Immunodeficiency 34
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Reduced natural killer cell count, Neutropenia, Recurrent infec... OMIM:615214
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Trimethylaminuria
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia OMIM:602079
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Recurrent bronchopulmonary infections, Neutropenia OMIM:610798
Immunodeficiency 21
Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal infections, Recu... OMIM:614172
Immunodeficiency 84
Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc... OMIM:619437
Cd8 Deficiency, Familial
Absence of CD8-positive T cells, Recurrent respiratory infections, Recurrent bacterial infections... OMIM:608957
Immunodeficiency 51
Recurrent respiratory infections, Recurrent cutaneous fungal infections, Chronic mucocutaneous ca... OMIM:613953
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Recurrent bacteri... ORPHA:2688
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Recurrent bacterial infections, Neutropenia, Rec... OMIM:613502
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections OMIM:308220
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia OMIM:610738
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Ras-Associated Autoimmune Leukoproliferative Disorder
Recurrent respiratory infections, Pancytopenia, Hemolytic anemia, Autoimmune thrombocytopenia, Sp... OMIM:614470
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Recurrent infections, Leukopenia, Neutropenia, Failure to... OMIM:229050
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent viral infections, Recurrent upper respiratory tract infect... OMIM:614868
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Recurrent bact... OMIM:613500
Immunodeficiency 7
Recurrent respiratory infections, Autoimmune hemolytic anemia, Severe varicella zoster infection,... OMIM:615387
Whim Syndrome 1
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Neutropenia OMIM:193670
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Immunodeficiency 67
Liver abscess, Transient neutropenia, Recurrent streptococcal infections, Recurrent staphylococca... OMIM:607676
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent respiratory infections, Recurrent herpes, Pancytopenia, Autoimmune hemolytic anemia, Re... ORPHA:572
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neonatal sepsis, Lymphopenia, Eosinophilia, Recurrent viral infections, Autoimmune thrombocytopen... ORPHA:169154
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... OMIM:150550
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Transient neutropenia, Recurrent sinusitis, Absent circulating ... OMIM:619707
Bare Lymphocyte Syndrome, Type Ii
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent viral infections, R... OMIM:209920
Cernunnos-Xlf Deficiency
Recurrent viral infections, Thrombocytopenia, Recurrent bacterial infections, T lymphocytopenia, ... ORPHA:169079
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Recurrent bacterial infections OMIM:613495
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Chronic... ORPHA:75564
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections, Neutropenia OMIM:606843
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent oral herpes, Autoimmune hemolytic anemia, Persistent CMV viremia, Autoimmune thrombocyt... OMIM:619220
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Anemia, Neutropenia OMIM:614082
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Specific Granule Deficiency 2
Absent neutrophil specific granules, Thrombocytopenia, Recurrent pneumonia, Sepsis, Recurrent bac... OMIM:617475
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent respiratory infections, Abnormally low T cell receptor excision circle level, Monocytop... OMIM:618986
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Hemophagocytosis, Hepatosplenomegaly OMIM:607624
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Eosinophilia, Familial
Eosinophilia, Recurrent bronchitis, Thrombocytopenia, Leukocytosis, Anemia OMIM:131400
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Recurren... OMIM:613493
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia OMIM:603552
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Recurrent bacterial infections, Pancytopenia, B lymphocytopenia OMIM:616873
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Recurr... ORPHA:486
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Rectal abs... OMIM:601495
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Immunodeficiency 35
Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections... OMIM:611521
Ficolin 3 Deficiency
Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre... OMIM:613860
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... OMIM:614892
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Eosinophilia, Recurrent viral i... ORPHA:911
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Recurrent herpes, Decreased proportion of naive T cells, Abn... ORPHA:276
Immunodeficiency, Common Variable, 1
Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neutropil antibodies, Decrease... OMIM:607594
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia, Steatorrhea OMIM:618752
Immunodeficiency 31B
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Recurrent upper respiratory tract infec... OMIM:608184
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection... ORPHA:275
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Recurrent bacterial infections, B lymphocytopeni... OMIM:612692
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, BCGosis, Hepatosplenomegaly, Thrombocytosis, Failure to... OMIM:618963
Lymphoproliferative Syndrome, X-Linked, 1
Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Recurrent pharyngitis, Splenomeg... OMIM:308240
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
Transcobalamin Deficiency
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia ORPHA:859
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Immunodeficiency 98 With Autoinflammation, X-Linked
Chronic oral candidiasis, Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Splenome... OMIM:301078
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Hypertriglyceridemia, Invasive parasitic infection, Opportunistic bacterial infecti... ORPHA:158048
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Decreased ... ORPHA:83471
Immunodeficiency 102
Autoimmune thrombocytopenia, Severe varicella zoster infection, Recurrent upper respiratory tract... OMIM:301082
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Obesity, Recurrent bacter... OMIM:300310
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Agammaglobulinemia 9, Autosomal Recessive
Recurrent bacterial infections, Thrombocytopenia, Failure to thrive, Absent circulating B cells OMIM:619693
Neonatal Alloimmune Neutropenia
Neutropenia in presence of anti-neutropil antibodies, Severe infection, Meningitis, Sepsis ORPHA:464370
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi... ORPHA:331206
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Recurrent sinusitis, Neutropenia,... OMIM:618849
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eosinophilia, Recurrent viral infections, Recurrent pneumonia... OMIM:243700
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia OMIM:619398
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Felty Syndrome
Recurrent respiratory infections, Recurrent urinary tract infections, Recurrent pharyngitis, Thro... ORPHA:47612
Microcephalic Primordial Dwarfism, Toriello Type
Recurrent respiratory infections, Neutropenia ORPHA:2643
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia OMIM:612527
Immunodeficiency 32B
Recurrent respiratory infections, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, BCG... OMIM:226990
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... OMIM:169400
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Thrombocytopenia, Splenomegaly, Hepat... ORPHA:158057
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Neutropenia, Anemia, Recurrent infections OMIM:617056
Immunodeficiency 36 With Lymphoproliferation
Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory tract infections, Persistent EB... OMIM:616005
Purine Nucleoside Phosphorylase Deficiency
Lymphopenia, Recurrent urinary tract infections, Autoimmune hemolytic anemia, Pure red cell aplas... OMIM:613179
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Immunodeficiency, Common Variable, 4
Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis OMIM:613494
Idiopathic Aplastic Anemia
Pancytopenia, Thrombocytopenia, Reticulocytopenia, Recurrent infections, Neutropenia, Anemia ORPHA:88
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, BCGosis, Coccidioid... ORPHA:319552
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Recurrent viral infections, Splenomegaly, Thrombocytopeni... OMIM:603554
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis OMIM:613779
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:598500
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sepsis, Recurrent infections, Neutropenia, Failure to thrive, M... ORPHA:33110
Immunodeficiency 23
Recurrent respiratory infections, Hemolytic anemia, Lymphopenia, Abscess, Recurrent staphylococca... OMIM:615816
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Thrombocytopenia, Recurrent pneumonia, Sepsis, Weight loss... ORPHA:47
Pgm3-Cdg
Recurrent viral infections, Abnormal CD4:CD8 ratio, Sepsis, Leukopenia, T lymphocytopenia, Neutro... ORPHA:443811
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Candida esophagitis, Leukocytosis, Recurrent pneumonia, Monocytosis, B lymphocytope... OMIM:619281
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Thrombocytopenia, Sepsis, Anemia, Neutropenia ORPHA:289916
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections, Macrothrombocytopenia, Thrombocytopenia, Neutropenia OMIM:603585
Immunodeficiency With Hyper-Igm, Type 2
Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections, Recurre... OMIM:605258
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Sepsis, Hepatosplenomegaly, Recurrent b... OMIM:612840
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia ORPHA:79312
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia OMIM:616738
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Invasive fungal infection, Recurrent mycobacterial infections, Increased T cell count, Severe vir... ORPHA:98813
Hemochromatosis, Type 3
Lymphopenia, Anemia, Neutropenia OMIM:604250
Immunodeficiency 97 With Autoinflammation
Recurrent sinopulmonary infections, Recurrent urinary tract infections, Hypertriglyceridemia, Dec... OMIM:619802
Griscelli Syndrome Type 2
Pancytopenia, Splenomegaly, Hyperlipidemia, Hemophagocytosis, Neutropenia ORPHA:79477
Aggressive Systemic Mastocytosis
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Weight loss, Inc... ORPHA:98850
Immunodeficiency, Common Variable, 2
Splenomegaly, Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusitis, Recurrent... OMIM:240500
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Neutropenia, Chronic neutropenia, Recurrent infections OMIM:258360
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Severe infection, Coombs-positive he... OMIM:304790
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Recurrent upper respiratory tract infections, Recurrent pneumonia, Chronic mucocutaneous candidia... OMIM:619752
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Failure to thrive, Thrombocytopenia, Splenomegaly, Neutropenia, Sepsis, Recurre... OMIM:308230
Slc35A1-Cdg
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia ORPHA:238459
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Severe infection, Recurrent tonsillitis, Sepsis, Decreased ... ORPHA:2686
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Recurrent viral infections, Recurrent bacterial infections, B lymphocyto... OMIM:618048
Barth Syndrome
Cyclic neutropenia, Hypochromic microcytic anemia, Granulocytopenia, Neutropenia, Failure to thri... OMIM:302060
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... OMIM:233710
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Leukocyte Adhesion Deficiency, Type I
Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Leukocytosis, ... OMIM:116920
Selective Igm Deficiency
Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Sepsis,... ORPHA:331235
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous cand... OMIM:147060
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Hemolytic anemia, Autoimmune hemolytic anemia, Failure to thriv... OMIM:606367
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Lymphopeni... OMIM:612541
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... OMIM:233690
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Small for gestational age, Thrombocytopenia, Steatorrhea, R... OMIM:260400
Immunodeficiency 12
Abnormal lymphocyte count, Recurrent viral infections, Recurrent bacterial infections, Decreased ... OMIM:615468
Acute Promyelocytic Leukemia
Pancytopenia, Chronic infection, Thrombocytopenia, Leukocytosis, Weight loss, Leukopenia, Neutrop... ORPHA:520
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi... OMIM:214500
Immunodeficiency, Common Variable, 8, With Autoimmunity
Recurrent respiratory infections, Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia,... OMIM:614700
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Recurrent bacterial infections, Autoimmune thrombocytopenia OMIM:613496
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Agammaglobulinemia, X-Linked
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Meningitis, Recurrent p... OMIM:300755
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Recurrent viral infections, Recurrent mycobacterial infections, Splenomegaly, S... ORPHA:169090
Immunodeficiency 10
Recurrent bacterial infections, Autoimmune hemolytic anemia, Thrombocytopenia, Recurrent infections OMIM:612783
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce... OMIM:619705
Complement Factor B Deficiency
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Congenital Enterovirus Infection
Abnormal macrophage morphology, Meningitis, Leukocytosis, Thrombocytopenia, Sepsis, Leukopenia, N... ORPHA:292
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Large for gestational age, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia OMIM:614520
Immunodeficiency 33
Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc... OMIM:300636
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Failure to thrive, Neutropenia, Recurrent infections OMIM:616395
Necrotizing Enterocolitis
Neonatal sepsis, Small for gestational age, Leukocytosis, Neutropenia, Thrombocytopenia ORPHA:391673
Congenital Disorder Of Glycosylation, Type Iic
Bronchiolitis, Neutrophilia, Recurrent otitis media, Reduction of neutrophil motility OMIM:266265
Developmental Delay, Hypotonia, And Impaired Language
Recurrent pneumonia, Neutropenia OMIM:620012
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Splenomegaly, Recurrent pneumonia, Neutropenia, Hepatosplenomegal... OMIM:608233
Shwachman-Diamond Syndrome 2
Normocytic anemia, Steatorrhea, Recurrent infections, Neutropenia, Failure to thrive, Thrombocyto... OMIM:617941
Deafness-Lymphedema-Leukemia Syndrome
Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute le... ORPHA:3226
Macrophage Activation Syndrome
Hypertriglyceridemia, Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural kille... ORPHA:158061
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Normochromic anemia, Failure to thrive, Thrombocytopenia, Neutropenia OMIM:614857
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Failure to thrive, Thrombocytopenia, Neutropenia OMIM:251000
Immunodeficiency With Hyper-Igm, Type 5
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections OMIM:608106
Shwachman-Diamond Syndrome
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... ORPHA:811
Sepsis In Premature Infants
Neonatal sepsis, Disseminated viral infection, Small for gestational age, Thrombocytopenia, Sever... ORPHA:90051
Transcobalamin Ii Deficiency
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Failure to... OMIM:275350
Propionic Acidemia
Pancytopenia, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia OMIM:606054
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Recurrent bacterial skin infections, Recurrent respiratory infecti... ORPHA:167
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Small for gestational age, Megaloblastic anemia, Thrombocytopenia, Recurrent infect... OMIM:277380
Schimke Immuno-Osseous Dysplasia
Lymphopenia, Small for gestational age, Thrombocytopenia, Hyperlipidemia, Recurrent infections, D... ORPHA:1830
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... OMIM:307200
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Lymphopenia, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosino... OMIM:102700
Immunodeficiency 27B
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections OMIM:615978
Developmental And Epileptic Encephalopathy 66
Anemia, Neutropenia OMIM:618067
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... ORPHA:101096
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... OMIM:601859
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Neutropenia, Recurrent infections OMIM:617827
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, BCGosis, Recurrent pneumonia, Severe viral infection, Hepatosplenomegaly, Monocytos... OMIM:619644
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Leukopenia, Neutropenia, Failure to thrive, Thrombocytopenia OMIM:613989
Mitochondrial Complex I Deficiency, Nuclear Type 33
Small for gestational age, Neutropenia OMIM:618253
Cohen Syndrome
Small for gestational age, Leukopenia, Childhood-onset truncal obesity, Neutropenia OMIM:216550
3-Methylglutaconic Aciduria, Type Viia
Anisopoikilocytosis, Anemia, Neutropenia OMIM:619835
Wolcott-Rallison Syndrome
Neutropenia, Recurrent infections, Iron deficiency anemia, Lymphocytosis, Decreased body weight ORPHA:1667
Methylmalonic Acidemia With Homocystinuria Type Cblf
Megaloblastic anemia, Failure to thrive, Neutropenia, Recurrent infections ORPHA:79284
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Neutropenia, Failure to thrive ORPHA:2169
Methylmalonic Aciduria, Cblb Type
Pancytopenia, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia OMIM:251110
Schimke Immunoosseous Dysplasia
Pancytopenia, Small for gestational age, Thrombocytopenia, Abnormal T cell morphology, Recurrent ... OMIM:242900
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Recurrent Haemophilus influenzae infections OMIM:300455
Neonatal Lupus Erythematosus
Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia ORPHA:398124
Poikiloderma With Neutropenia
Recurrent bronchopulmonary infections, Splenomegaly, Recurrent pneumonia, Leukopenia, Recurrent s... OMIM:604173
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Small for gestational age, Refractory sideroblastic anemia, T... OMIM:557000
Letterer-Siwe Disease
Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly OMIM:246400
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... OMIM:306400
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Infectious encephaliti... ORPHA:540
Aspergillosis
Eosinophilia, Unusual CNS infection, Invasive pulmonary aspergillosis, Neutropenia, Meningitis, I... ORPHA:1163
Diamond-Blackfan Anemia 7
Macrocytic anemia, Recurrent infections, Increased mean corpuscular volume, Neutropenia, Recurren... OMIM:612562
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Thrombocytopenia, Recurrent upper respiratory tract infections, Reticulocytopenia, Leukopenia, B ... ORPHA:508542
Whim Syndrome
Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Abnormal neutrophil mo... ORPHA:51636
Mucopolysaccharidosis-Plus Syndrome
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Thrombocytopenia, Recurr... OMIM:617303
Pyomyositis
Recurrent cutaneous abscess formation, Leukocytosis, Sepsis, Weight loss, Recurrent infections ORPHA:764
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent respiratory infections, Autoimmune hemolytic anemia, Failure to thrive in infancy, Cach... ORPHA:37042
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla... OMIM:250250
Mirage Syndrome
Recurrent urinary tract infections, Thrombocytopenia, Sepsis, Recurrent bacterial infections, Leu... OMIM:617053
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Re... ORPHA:232
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Recurrent infections, Pe... OMIM:617052
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent respiratory infections, Recurrent urinary tract infections, Recurrent herpes, Liver abs... ORPHA:183675
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Recurrent lower respiratory tract infections, Failure to thrive, Neutropenia OMIM:618005
Fanconi Anemia, Complementation Group E
Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb... OMIM:600901
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Acute Generalized Exanthematous Pustulosis
Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia ORPHA:293173
3-Methylglutaconic Aciduria, Type Viib
Recurrent pneumonia, Recurrent infections, Leukopenia, Neutropenia, Thrombocytopenia OMIM:616271
Vici Syndrome
Recurrent respiratory infections, Lymphopenia, Recurrent viral infections, Chronic mucocutaneous ... OMIM:242840
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Neutropenia, Failure to thrive, Small for gestational age, Recurrent infections OMIM:615471
Diamond-Blackfan Anemia 11
Anemia of inadequate production, Neutropenia OMIM:614900
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Weight loss, Anemia ORPHA:54251
Sickle Cell Disease
Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Recurrent bacterial infections,... OMIM:603903
Methylmalonic Aciduria, Cbla Type
Pancytopenia, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia OMIM:251100
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... OMIM:603909
Evans Syndrome
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... ORPHA:1959
Fanconi Anemia, Complementation Group A
Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb... OMIM:227650
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Recurrent upper respiratory tract infec... OMIM:615952
Anterior Cutaneous Nerve Entrapment Syndrome
Leukocytosis, Recurrent urinary tract infections, Recurrent infection of the gastrointestinal tra... ORPHA:51890
Fanconi Anemia, Complementation Group I
Neutropenia, Decreased body weight OMIM:609053
Glycogen Storage Disease Ib
Splenomegaly, Hyperlipidemia, Xanthelasma, Recurrent bacterial infections, Neutropenia OMIM:232220
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Re... ORPHA:436159
Hermansky-Pudlak Syndrome 10
Splenomegaly, Recurrent respiratory infections, Neutropenia OMIM:617050
Autoinflammatory Disease, Systemic, X-Linked
Neutropenia, B lymphocytopenia, Hepatosplenomegaly OMIM:301081
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Recurrent respiratory infections, Leukocytosis OMIM:618042
Fusariosis
Brain abscess, Lung abscess, Invasive fungal infection, Abnormality of the spleen, Unusual CNS in... ORPHA:228119
Complement Component 5 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:609536
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent Haemophilus influenzae infections, Recurrent mening... OMIM:610984
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent respiratory infections, Autoimmune thrombocytopenia, T lymphocytopenia, Recurrent sinus... OMIM:607944
Idiopathic Bronchiectasis
Cachexia, Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections ORPHA:60033
Fanconi Anemia, Complementation Group C
Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb... OMIM:227645
Immunodeficiency 92
Recurrent oral herpes, Persistent CMV viremia, Leukocytosis, BCGosis, Decreased proportion of cla... OMIM:619652
3-Methylglutaconic Aciduria Type 7
Infection associated neutropenia, Neutropenia ORPHA:445038
Pneumocystosis
Weight loss, Abnormal neutrophil count, Pneumocystis jirovecii pneumonia, Chronic oral candidiasis ORPHA:723
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Splenomegaly, Recurrent infections, Recurrent bacterial infe... OMIM:300972
Toxic Epidermal Necrolysis
Recurrent respiratory infections, Thrombocytopenia, Sepsis, Weight loss, Neutropenia, Anemia ORPHA:537
Eosinophilic Gastroenteritis
Eosinophilia, Leukocytosis, Weight loss, Steatorrhea, Anemia ORPHA:2070
Wiskott-Aldrich Syndrome
Recurrent respiratory infections, Hemolytic anemia, Abnormal eosinophil morphology, Microcytic an... ORPHA:906
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Hypertriglyceridemia... OMIM:619573
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Weight loss, Lymphocytosis, Hypochromic anemia, Anemia ORPHA:514
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent urinary tract infections, Recurrent ear infections, Recurrent viral infections, Abnorma... ORPHA:221139
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... ORPHA:2330
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia, Weight loss ORPHA:1302
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Splenomegaly, Leukocytosis, Recurrent bacterial infections, Failure to thrive, Anemia OMIM:615895
Diamond-Blackfan Anemia
Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, R... ORPHA:124
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Neutropenia, Microcytic anemia OMIM:251900
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections, Anemia OMIM:244460
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Chronic neutropenia, Hyperlipidemia, Recurrent bacterial infections, Xanthe... ORPHA:79259
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Failure to thrive, Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:277400
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Failure to thrive in in... OMIM:617099
Cohen Syndrome
Failure to thrive in infancy, Obesity, Neutropenia ORPHA:193
Leigh Syndrome
Failure to thrive, Severe viral infection, Anemia, Neutropenia ORPHA:506
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent Aspergillus infections, Recurrent herpes, Autoimmune hemolytic anemia, Autoimmune throm... ORPHA:391487
Fanconi Anemia, Complementation Group D2
Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb... OMIM:227646
Adult-Onset Still Disease
Neutrophilia, Splenomegaly, Recurrent pharyngitis, Leukocytosis, Meningitis ORPHA:829
Staphylococcal Necrotizing Pneumonia
Neutrophilia, Leukocytosis, Severe infection, Sepsis, Leukopenia ORPHA:36238
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Pancytopenia, Failure to thrive in infancy, Hypersplenism, Neutropenia in presence of anti-neutro... ORPHA:228426
Khan-Khan-Katsanis Syndrome
Lymphopenia, Failure to thrive, Anemia, Neutropenia OMIM:618460
Relapsing Fever
Neutrophilia, Leukocytosis, Anemia, Leukopenia, Thrombocytopenia ORPHA:91547
Trichothiodystrophy
Recurrent bronchopulmonary infections, Increased mean corpuscular hemoglobin concentration, Recur... ORPHA:33364
Kikuchi-Fujimoto Disease
Thrombocytopenia, Splenomegaly, Weight loss, Leukopenia, Lymphocytosis, Neutropenia, Meningitis, ... ORPHA:50918
Pearson Syndrome
Reticulocytosis, Pancytopenia, Small for gestational age, Thrombocytopenia, Severe infection, Spl... ORPHA:699
Hypocomplementemic Urticarial Vasculitis
Splenomegaly, Recurrent bacterial infections, Meningitis ORPHA:36412
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Recurrent urinary tract infections, Polycythemia, Recurrent staphylococca... ORPHA:2968
Glycogen Storage Disease Ic
Xanthelasma, Hyperlipidemia, Recurrent upper respiratory tract infections, Cyclic neutropenia OMIM:232240
Rothmund-Thomson Syndrome
Aplastic anemia, Small for gestational age, Neutropenia, Leukemia, Anemia ORPHA:2909
X-Linked Intellectual Disability, Nascimento Type
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Recurrent ear infections... ORPHA:163956
Infantile Systemic Hyalinosis
Recurrent bacterial infections, Failure to thrive, Steatorrhea ORPHA:2176
Leukocyte Adhesion Deficiency Type Ii
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Small for gestational age, Ne... ORPHA:99843
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650
Intellectual Developmental Disorder, Autosomal Dominant 54
Small for gestational age, Neutropenia OMIM:617799
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... OMIM:300908
Rothmund-Thomson Syndrome Type 1
Aplastic anemia, Small for gestational age, Neutropenia, Leukemia, Anemia ORPHA:221008
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia OMIM:614204
Mannosidosis, Alpha B, Lysosomal
Splenomegaly, Recurrent bacterial infections, Vacuolated lymphocytes OMIM:248500
Pediatric-Onset Graves Disease
Splenomegaly, Failure to thrive, Neutropenia in presence of anti-neutropil antibodies, Thrombocyt... ORPHA:525731
Hermansky-Pudlak Syndrome
Neutropenia, Weight loss ORPHA:79430
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Failure to thrive, Neutropenia, Thrombocytopenia, Megaloblastic anemia ORPHA:79282
Rothmund-Thomson Syndrome Type 2
Aplastic anemia, Small for gestational age, Neutropenia, Leukemia, Anemia ORPHA:221016
Cystic Fibrosis
Recurrent Aspergillus infections, Recurrent respiratory infections, Recurrent Burkholderia cepaci... ORPHA:586
Cartilage-Hair Hypoplasia
Failure to thrive, Anemia, Neutropenia ORPHA:175
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Asplenia, Recurrent mycobacterial infections, Polysplenia, Re... ORPHA:244
Hyper-Igd Syndrome
Neutrophilia, Splenomegaly, Leukocytosis, Recurrent infections, Hepatosplenomegaly, Chronic oral ... OMIM:260920
Herpes Simplex Virus Encephalitis
Leukocytosis, Neutrophilia ORPHA:1930
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Recurrent respiratory infections, Candida esophagitis, Perianal abscess, Severe varicella zoster ... OMIM:618213
Lysinuric Protein Intolerance
Hypertriglyceridemia, Thrombocytopenia, Hepatosplenomegaly, Recurrent bacterial infections, Leuko... ORPHA:470
Sweet Syndrome
Acute myeloid leukemia, Neutrophilia, Leukocytosis, Recurrent infections, Chronic lymphatic leuke... ORPHA:3243
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Splenomegaly, Neutrophilia, Failure to thrive in infancy, Abscess OMIM:612852
Autoimmune Lymphoproliferative Syndrome
Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl... ORPHA:3261
Postinfectious Vasculitis
Persistent human papillomavirus infection, Severe varicella zoster infection, Invasive fungal inf... ORPHA:48435
3-Methylglutaconic Aciduria, Type Viii
Failure to thrive, Neutropenia OMIM:617248
Zygomycosis
Brain abscess, Unusual skin infection, Invasive fungal infection, Neutropenia, Splenic abscess, I... ORPHA:73263
Ectodermal Dysplasia And Immunodeficiency 1
Severe cytomegalovirus infection, Recurrent bacterial infections, Molluscum contagiosum OMIM:300291
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Neutropenia OMIM:271510
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections OMIM:241410
Chromomycosis
Recurrent bacterial infections ORPHA:182
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Transient neutropenia, Chronic neutropenia, Large for gestational age ORPHA:500095
Thauvin-Robinet-Faivre Syndrome
Transient neutropenia, Large for gestational age OMIM:617107
Primary Sclerosing Cholangitis
Recurrent systemic pyogenic infections, Abnormal eosinophil morphology, Splenomegaly, Hepatosplen... ORPHA:171
Aspartylglucosaminuria
Recurrent respiratory infections, Vacuolated lymphocytes, Neutropenia OMIM:208400
Familial Mediterranean Fever
Splenomegaly, Leukocytosis, Neutrophilia, Meningitis OMIM:249100
Sponastrime Dysplasia
Recurrent pneumonia, Small for gestational age, Neutropenia ORPHA:93357
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Sepsis, Anemia, Neutropenia ORPHA:95455
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections ORPHA:99104
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent respiratory infections, Failure to thrive, Recurrent bacterial infections, Recurrent in... ORPHA:2273
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections ORPHA:99103
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent Staphylococcus aureus infections, Tooth abscess, Abscess, Anemia ORPHA:642

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 Cerk

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 Cerk.

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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Cerktm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cerktm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells

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