Gene Summary

6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2
PFK-2/FBPase-2 gene B,  4930568D07Rik

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
increased lymphocyte cell number Pfkfb2tm1b(KOMP)Wtsi HOM Early adult 4.73×10-05
increased basophil cell number Pfkfb2tm1b(KOMP)Wtsi HOM Early adult 1.09×10-18
increased eosinophil cell number Pfkfb2tm1b(KOMP)Wtsi HOM Early adult 1.09×10-06
increased fasting circulating glucose level Pfkfb2tm1b(KOMP)Wtsi HOM Early adult 5.65×10-05
thin ventricular wall Pfkfb2tm1b(KOMP)Wtsi HOM Early adult 3.69×10-07
abnormal retina morphology Pfkfb2tm1b(KOMP)Wtsi HOM   Early adult 2.47×10-06
decreased neutrophil cell number Pfkfb2tm1b(KOMP)Wtsi HOM Early adult 2.49×10-06

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lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Pfkfb2 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 Pfkfb2 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Eosinophilia, Familial
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia, Myocardial eosinophilic infiltration OMIM:131400
Thrombocytopenia, Cyclic
Neutropenia, Cyclic neutropenia, Thrombocytopenia OMIM:188020
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Immunodeficiency 88
Eosinophilia OMIM:619630
Diamond-Blackfan Anemia 18
Neutropenia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618310
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Acute... OMIM:202700
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Neutropenia, Atrial septal defect, Lymphopenia OMIM:614868
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly, Restrictive cardiomyopathy, Endocardial ... OMIM:607685
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia ORPHA:517
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia OMIM:615214
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Neutropenia, Monocytosis, B lymphocytopenia OMIM:613107
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Immunodeficiency 7
Hypereosinophilia OMIM:615387
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Macrosomia Adiposa Congenita
Eosinophilia OMIM:248100
Generalized Eruptive Histiocytosis
Hypereosinophilia, Leukemia, Histiocytosis ORPHA:157991
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Neutropenia, Acute myeloid leukemia OMIM:607847
Glutathione Synthetase Deficiency
Neutropenia, Pigmentary retinopathy, Hemolytic anemia OMIM:266130
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hematopoiesis OMIM:615285
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrocalcinosis, Glomerular sclerosis, Nephrolithiasis, Proximal tubulopathy, Hypercalciuria, Ch... OMIM:310468
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521
Halothane Hepatitis
Eosinophilia OMIM:234350
Neutropenia, Anemia, Splenomegaly OMIM:602079
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia OMIM:613501
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Decreased eosinophil count OMIM:131430
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Renal hypoplasia, Chronic kidney disease, Tubulointerstitial fibrosis, Renal tubular... OMIM:613092
Kimura Disease
Eosinophilia ORPHA:482
Immunodeficiency 21
Neutropenia, Abnormal natural killer cell morphology, Myeloid leukemia, Aplastic anemia, Monocyto... OMIM:614172
Eosinophil Peroxidase Deficiency
Abnormal eosinophil morphology OMIM:261500
Retinal Venous Beading
Retinal neovascularization, Neutropenia, Abnormal distribution of retinal arterioles and venules,... OMIM:180080
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Loeffler Endocarditis
Eosinophilia, Myocardial fibrosis, Abnormal heart valve morphology, Aortic valve stenosis, Abnorm... ORPHA:75566
Anemia, Sideroblastic, 5
Neutropenia, Anemia, Thrombocytopenia, Reduced hematocrit, Hypochromic microcytic anemia OMIM:619523
X-Linked Severe Congenital Neutropenia
Neutropenia, Monocytopenia ORPHA:86788
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Megaloblastic anemia, Neutropenia, Diabetes mellitus, Thrombocytopenia, Opt... OMIM:598500
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Neutropenia, Anemia, Increased... OMIM:619041
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia OMIM:212050
Fanconi Anemia, Complementation Group G
Neutropenia, Anemia, Thrombocytopenia, Leukemia OMIM:614082
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia, Hemo... OMIM:614470
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:601859
Wells Syndrome
Eosinophilia ORPHA:901
Agammaglobulinemia 10, Autosomal Dominant
Type I diabetes mellitus, Absent circulating B cells, Transient neutropenia OMIM:619707
Diamond-Blackfan Anemia 4
Atrial septal defect, Neutropenia, Macrocytic anemia, Reticulocytopenia, Erythroid hypoplasia OMIM:612527
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly... ORPHA:169154
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Neutropenia, Macrocytic anemia, Normochromic anem... ORPHA:98826
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Bone marrow ... ORPHA:75564
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Cinca Syndrome
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Papilledema, Anemia OMIM:607115
3-Methylglutaconic Aciduria, Type Viib
Neutropenia OMIM:616271
Transcobalamin Deficiency
Pancytopenia, Neutropenia, Lymphopenia, Thrombocytopenia ORPHA:859
Nephrotic Syndrome, Type 6
Tubulointerstitial fibrosis, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:614196
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Neutropenia, Acute lymphoblastic leukemia OMIM:610738
Specific Granule Deficiency 1
Increased neutrophil ribosomes, Increased neutrophil mitochondria, Impaired neutrophil bactericid... OMIM:245480
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Thrombocytopenia 5
Neutropenia, Anemia, Thrombocytopenia OMIM:616216
Joubert Syndrome 35
Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections, Renal fibrosis OMIM:618161
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Roifman Syndrome
Eosinophilia, Splenomegaly, Ventricular septal defect, Retinal dystrophy, Noncompaction cardiomyo... OMIM:616651
Ataxia-Pancytopenia Syndrome
Pancytopenia, Hypoplastic anemia, Neutropenia, Anemia, Thrombocytopenia, Acute myelomonocytic leu... OMIM:159550
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Eosinophilia OMIM:618282
Hemochromatosis, Type 3
Neutropenia, Anemia, Lymphopenia, Cardiomyopathy OMIM:604250
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia OMIM:603552
Autosomal Dominant Severe Congenital Neutropenia
Eosinophilia, Monocytosis, Leukemia, Acute myeloid leukemia, Neutropenia, Aplastic anemia, Acute ... ORPHA:486
Agammaglobulinemia 4, Autosomal Recessive
Neutropenia, Abnormal T cell morphology OMIM:613502
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia OMIM:253600
Barth Syndrome
Dilated cardiomyopathy, Granulocytopenia, Endocardial fibroelastosis, Hypertrophic cardiomyopathy... OMIM:302060
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:603909
Eosinophilic Fasciitis
Eosinophilia, Abnormal eosinophil morphology ORPHA:3165
Omenn Syndrome
Eosinophilia, Splenomegaly, Severe B lymphocytopenia, Anemia, B lymphocytopenia, Hypoplasia of th... OMIM:603554
Immunodeficiency 46
Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
Roifman Syndrome
Eosinophilia, Noncompaction cardiomyopathy, Retinal dystrophy, Hepatosplenomegaly ORPHA:353298
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Right ventricular dilatation, Hypertrophic cardiomyopathy, Neutropenia, B lymphocytopenia, Absent... OMIM:619705
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Anemia,... OMIM:304790
Idiopathic Aplastic Anemia
Pancytopenia, Bone marrow hypocellularity, Retinal hemorrhage, Neutropenia, Anemia, Reticulocytop... ORPHA:88
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Eosinophilia OMIM:618092
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Neutropenia, B lymphocytopen... OMIM:150550
Fanconi Anemia, Complementation Group V
Neutropenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity OMIM:617243
Immunodeficiency 55
Neutropenia OMIM:617827
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia, Cutaneous abscess OMIM:147060
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Interstitial Nephritis, Karyomegalic
Glycosuria, Nephronophthisis, Hematuria, Proteinuria, Increased blood urea nitrogen, Tubulointers... OMIM:614817
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eosinophilia OMIM:618523
Adult Idiopathic Neutropenia
Neutropenia, Monocytosis, Lymphopenia, Monocytopenia ORPHA:2688
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Anisocytosis, Neutrope... OMIM:300835
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Neutropenia, Anemia, Increased mean corpuscular volume, Persistence ... OMIM:618849
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia OMIM:606843
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly OMIM:618394
Immunodeficiency 49
Eosinophilia, Lymphopenia OMIM:617237
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Eosinophilia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Autoimmune hemoly... ORPHA:331206
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Retinal degeneration, Retinal detachment, Retinal atrophy, Vi... OMIM:312700
Whim Syndrome 1
Neutropenia OMIM:193670
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia OMIM:610163
Developmental And Epileptic Encephalopathy 66
Neutropenia, Anemia, Abnormal cardiac septum morphology OMIM:618067
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Neutropenia, Anemia, Cardiomyopathy, Thrombocytopenia, Optic atrophy ORPHA:79312
Nephronophthisis 4
Stage 5 chronic kidney disease, Polyuria, Tubulointerstitial fibrosis, Renal tubular atrophy, Ren... OMIM:606966
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic myelomonocy... ORPHA:98849
Nephronophthisis 3
Enuresis, Polyuria, Tubulointerstitial fibrosis, Renal tubular atrophy, Renal corticomedullary cy... OMIM:604387
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Hepatosplenomegaly, Eosinophilia, Decreased proportion of CD3-positive T cells, Lymphopenia ORPHA:169160
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Polyuria, Tubulointerstitial fibrosis, Tubular basement membrane... OMIM:256100
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Hemophagocytosis, Splenomegaly, Neutropenia, Aplastic anemia, Lymphocytosis, Thromb... OMIM:308240
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Microcytic anemia, Neutropenia, Optic atrophy OMIM:251900
Diamond-Blackfan Anemia 11
Bone marrow hypocellularity, Neutropenia, Anemia, Bicuspid aortic valve, Anemia of inadequate pro... OMIM:614900
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Neutropenia, Anemia, Thrombocytopenia, Optic atrophy ORPHA:289916
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Neutropenia, Anemia, Congenital thrombocytopenia, Thrombocytopenia OMIM:616738
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatosplenomegaly OMIM:618999
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count OMIM:243700
Omenn Syndrome
Abnormal lymphocyte morphology, Eosinophilia, Leukocytosis, Splenomegaly, Anemia ORPHA:39041
Neutropenia, Giant platelets, Thrombocytopenia, Abnormal platelet granules ORPHA:238459
Folate Malabsorption, Hereditary
Neutropenia, Leukopenia, Thrombocytopenia, Folate-responsive megaloblastic anemia OMIM:229050
Eosinophilic Gastroenteritis
Anemia, Leukocytosis, Eosinophilia ORPHA:2070
Acquired Partial Lipodystrophy
Lymphocytosis, Insulin resistance ORPHA:79087
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Maturity-onset diabetes of the young, Hyperglycemia, Diabetes mellitus OMIM:613370
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, T lymphocytopenia, Leukopenia, Hepatosplenomegaly, Impaired neutrophil chemotaxis, ... OMIM:618986
Pelger-Huet Anomaly
Giant platelets, Abnormality of neutrophils, Neutropenia, Hyposegmentation of neutrophil nuclei, ... OMIM:169400
Combined Immunodeficiency Due To Zap70 Deficiency
Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Absen... ORPHA:911
Eosinophilia, T lymphocytopenia, Leukopenia, Decreased proportion of CD3-positive T cells, Bone m... ORPHA:443811
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neu... ORPHA:231154
3-Methylglutaconic Aciduria, Type Viii
Neutropenia OMIM:617248
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia ORPHA:2643
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Acute myeloid leukemia, Splenomegaly, Neutrop... ORPHA:158057
Immunodeficiency 67
Liver abscess, Transient neutropenia OMIM:607676
Necrotizing Enterocolitis
Leukocytosis, Neutropenia, Abnormal heart morphology, Hyperglycemia, Thrombocytopenia, Abnormal g... ORPHA:391673
Hereditary Folate Malabsorption
Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Eosinophilia ORPHA:90045
Cohen Syndrome
Bull's eye maculopathy, Leukopenia, Chorioretinal dystrophy, Neutropenia, Bone spicule pigmentati... OMIM:216550
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Fluctuating splenomegaly, Neutropenia i... OMIM:619220
Specific Granule Deficiency 2
Neutropenia, Anemia, Thrombocytopenia, Absent neutrophil specific granules OMIM:617475
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia OMIM:251190
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Atrial septal defect, Cor triatriatum, Splenomegaly, Pulmonic stenosis, ... OMIM:612541
Diabetes And Deafness, Maternally Inherited
Retinal degeneration, Pigmentary retinopathy, Cardiomyopathy, Type II diabetes mellitus, Hypergly... OMIM:520000
Neutropenia, Eosinophilia, Vitritis ORPHA:1163
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Neutropenia, Anemia OMIM:617056
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Leukocytosis ORPHA:2902
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Glomerular sclerosis, Decreased glomerular filtration rate, Renal hypoplasia, Renal salt wasting,... OMIM:174000
Neonatal Lupus Erythematosus
Pancytopenia, Dilated cardiomyopathy, Splenomegaly, Neutropenia, Anemia, Abnormal heart morpholog... ORPHA:398124
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Neutropenia, Anemia, Atrial septal defect, Thrombocytopenia OMIM:614857
Aregenerative Anemia
Pancytopenia, Bone marrow hypocellularity, Decreased proportion of CD4-positive helper T cells, A... ORPHA:101096
Lichtenstein Syndrome
Neutropenia OMIM:246550
Griscelli Syndrome Type 2
Pancytopenia, Neutropenia, Splenomegaly, Hemophagocytosis ORPHA:79477
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Neutropenia OMIM:600351
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukopenia, Leukocytosis, Myocarditis, Neutropenia, Anemia, Cardi... ORPHA:292
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphocytosis, Myocarditis ORPHA:139402
Aggressive Systemic Mastocytosis
Pancytopenia, Abnormal mast cell morphology, Hepatosplenomegaly, Leukemia, Leukocytosis, Increase... ORPHA:98850
Onychotrichodysplasia And Neutropenia
Neutropenia, Chronic neutropenia, Lymphocytosis OMIM:258360
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Eosinophilia, Reduced red cell adenosine deaminase level, Autoimmune thrombocytopenia, Autoimmune... OMIM:102700
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Neutropenia, Lymphopenia, Reduced natural killer cell count, Cutaneous abscess OMIM:619752
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Optic disc pallor, Retinal thinning OMIM:618970
Immunodeficiency 23
Eosinophilia, Abscess, Neutropenia, Hemolytic anemia, Lymphopenia OMIM:615816
Propionic Acidemia
Pancytopenia, Hypoglycemia, Neutropenia, Anemia, Cardiomyopathy, Thrombocytopenia OMIM:606054
Imerslund-Gräsbeck Syndrome
Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Reduction of neutrophil motility, Leukocytosis, Impaired neutrophil chemotaxis, Rectal abscess, N... OMIM:608203
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly OMIM:617388
Netherton Syndrome
Hypereosinophilia OMIM:256500
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, T lymphocytopenia, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, Autoimmune ... ORPHA:572
Diabetes Mellitus, Transient Neonatal, 3
Maternal diabetes, Elevated hemoglobin A1c, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:610582
Cyclic Neutropenia
Decreased eosinophil count, Thrombocytopenia, Tooth abscess, Cyclic neutropenia, Perianal abscess... ORPHA:2686
Incontinentia Pigmenti
Eosinophilia, Leukocytosis, Retinal vascular proliferation, Retinal hemorrhage, Hypoplasia of the... OMIM:308300
Congenital Disorder Of Glycosylation, Type Iif
Neutropenia, Thrombocytopenia, Macrothrombocytopenia OMIM:603585
Immunodeficiency 14B, Autosomal Recessive
Leukocytosis, Monocytosis, Thrombocytosis, Neutrophilia, B lymphocytopenia OMIM:619281
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Lymphopenia OMIM:617425
Cystic Echinococcosis
Eosinophilia, Abnormal heart morphology, Peritoneal abscess, Splenic cyst, Abscess ORPHA:400
Chediak-Higashi Syndrome
Macular hypoplasia, Leukopenia, Giant neutrophil granules, Hemophagocytosis, Splenomegaly, Neutro... OMIM:214500
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Patent foramen ovale, Atrial septal defect, Optic nerve hypoplasia, ... OMIM:609053
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Abnormal heart morphology, Transient neonatal diabetes mellitus, Maternal ... ORPHA:99886
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Bone marrow hypocellularity, Coombs-positive hemolytic anemia, Autoimmune hemolytic... ORPHA:3261
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
3-Methylglutaconic Aciduria Type 7
Neonatal hypoglycemia, Bone marrow hypocellularity, Neutropenia, Cardiomyopathy, Infection associ... ORPHA:445038
Felty Syndrome
Abnormal lymphocyte morphology, Bone marrow hypocellularity, Splenomegaly, Neutropenia, Anemia, P... ORPHA:47612
Iga Pemphigus
Eosinophilia, Cutaneous abscess ORPHA:555905
Eosinophilic Granulomatosis With Polyangiitis
Eosinophilia, Abnormal pericardium morphology, Hypertrophic cardiomyopathy, Myocarditis, Endocard... ORPHA:183
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
Igg4-Related Aortitis
Hypereosinophilia ORPHA:449400
Macrophage Activation Syndrome
Hemophagocytosis, Splenomegaly, Abnormal natural killer cell count, Neutropenia, Anemia, Thromboc... ORPHA:158061
Letterer-Siwe Disease
Neutropenia, Anemia, Hepatosplenomegaly, Thrombocytopenia OMIM:246400
Mucoepithelial Dysplasia, Hereditary
Eosinophilia, Cor pulmonale OMIM:158310
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Elevated hemoglobin A1c, Hyperglycemia, Type I diabetes mellitus OMIM:618858
Fanconi Renotubular Syndrome 5
Glycosuria, Proteinuria, Tubulointerstitial fibrosis, Aminoaciduria, Stage 5 chronic kidney disease OMIM:618913
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Wolcott-Rallison Syndrome
Atrial septal defect, Double outlet right ventricle, Neutropenia, Iron deficiency anemia, Neonata... ORPHA:1667
Hyperglycemia, Hyperinsulinemia OMIM:616214
Mucopolysaccharidosis-Plus Syndrome
Leukopenia, Bone marrow hypocellularity, Atrial septal defect, Hypertrophic cardiomyopathy, Splen... OMIM:617303
Late-Onset Isolated Acth Deficiency
Eosinophilia, Hypoglycemia, Normocytic anemia, Macrocytic anemia, Type I diabetes mellitus ORPHA:199299
Diamond-Blackfan Anemia 7
Tetralogy of Fallot, Neutropenia, Increased mean corpuscular volume, Ventricular septal defect, S... OMIM:612562
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Bone marrow hypocellularity, Abnormality of the optic nerve, Abnormal neutrophil co... ORPHA:3226
Schimke Immunoosseous Dysplasia
Thrombocytopenia, Neutropenia, Anemia, Lymphopenia, Abnormal T cell morphology OMIM:242900
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Neutropenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity OMIM:614520
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Decreased eosinophil count OMIM:619632
Hereditary Renal Hypouricemia
Uric acid urolithiasis independent of gout, Abnormal renal tubule morphology, Hematuria, Hyperuri... ORPHA:94088
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia ORPHA:2314
Transcobalamin Ii Deficiency
Pancytopenia, Reticulocytopenia, Neutropenia, Macrocytic anemia OMIM:275350
Alport Syndrome
Nephrotic syndrome, IgA deposition in the glomerulus, Hematuria, Proteinuria, Mesangial hypercell... ORPHA:63
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Leukopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, B lymphocytopenia... ORPHA:508542
Acute Promyelocytic Leukemia
Pancytopenia, Leukopenia, Leukocytosis, Neutropenia, Anemia, Thrombocytopenia ORPHA:520
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Neutropenia, Hypoglycemia, Abnormal cardiac septum morphology OMIM:618005
X-Linked Agammaglobulinemia
Neutropenia, Anemia, Recurrent cutaneous abscess formation, Thrombocytopenia ORPHA:47
Alveolar Echinococcosis
Eosinophilia, Abnormal pericardium morphology, Cutaneous abscess, Abnormal spleen morphology, Ane... ORPHA:284
Wiskott-Aldrich Syndrome
Eosinophilia, Autoimmune hemolytic anemia, Absent microvilli on the surface of peripheral blood l... OMIM:301000
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus OMIM:606176
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Neutropenia OMIM:608809
Shwachman-Diamond Syndrome
Pancytopenia, Leukopenia, Normocytic anemia, Leukemia, Impaired neutrophil chemotaxis, Transient ... ORPHA:811
Evans Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... ORPHA:1959
Cartilage-Hair Hypoplasia
Congenital hypoplastic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Neutro... OMIM:250250
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Tetralogy of Fallot, Hepatosplenomegaly, Leukocytosis, Atrial septal defect, Anemia... OMIM:274000
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Renal cyst, Polycystic kidney dysplasia, Tubulointerstitial fibrosis, Absence of... OMIM:263200
Neonatal Alloimmune Neutropenia
Maternal diabetes, Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Hypoglycemia, Retinal degeneration, Megaloblastic anemia, Neutropenia, Pi... ORPHA:79282
Trichothiodystrophy 3, Photosensitive
Neutropenia, Lymphopenia OMIM:616395
Incontinentia Pigmenti
Eosinophilia, Retinal vascular proliferation, Retinal hemorrhage, Retinal detachment, Abnormal ch... ORPHA:464
Methylmalonic Aciduria, Cblb Type
Pancytopenia, Anemia, Neutropenia, Thrombocytopenia OMIM:251110
Fanconi Anemia, Complementation Group E
Pancytopenia, Leukemia, Neutropenia, Anemia, Abnormal heart morphology, Reticulocytopenia, Thromb... OMIM:600901
Autosomal Agammaglobulinemia
Neutropenia ORPHA:33110
Interstitial Pneumonitis, Desquamative, Familial
Tubulointerstitial fibrosis OMIM:263000
Hermansky-Pudlak Syndrome 2
Hepatosplenomegaly, Decreased CD4:CD8 ratio, Absent platelet dense granules, Splenomegaly, Neutro... OMIM:608233
Hypereosinophilia ORPHA:74
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Hemophagocytosis, Splenomegaly, Abnormal natural killer cell count, Neutropenia, An... ORPHA:158048
Methylcobalamin Deficiency Type Cble
Pancytopenia, Increased mean corpuscular volume, Neutropenia, Macrocytic anemia ORPHA:2169
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Chronic neutropenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Sple... OMIM:614700
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
T lymphocytopenia, Hypereosinophilia, Decreased proportion of CD4-positive helper T cells, Mitral... ORPHA:508533
Idiopathic Hypereosinophilic Syndrome
Eosinophilia, Dilated cardiomyopathy, Hepatosplenomegaly, Leukocytosis, Thrombocytosis, Myeloprol... ORPHA:3260
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Interstitial cardiac fibrosis, Hypereosinophilia, Myocarditis, Pericarditis ORPHA:801
Dent Disease
Glycosuria, Nephrocalcinosis, Nephrolithiasis, Hematuria, Hyperuricosuria, Hypercalciuria, Protei... ORPHA:1652
Hermansky-Pudlak Syndrome 10
Neutropenia, Splenomegaly, Ocular albinism OMIM:617050
Fanconi Anemia, Complementation Group A
Pancytopenia, Leukemia, Neutropenia, Anemia, Abnormal heart morphology, Reticulocytopenia, Thromb... OMIM:227650
Acute Panmyelosis With Myelofibrosis
Pancytopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Splenomegaly, Lymphocytosis, A... ORPHA:86843
Methylmalonic Aciduria, Cbla Type
Pancytopenia, Anemia, Neutropenia, Thrombocytopenia OMIM:251100
Methylmalonic Acidemia With Homocystinuria Type Cblf
Neutropenia, Megaloblastic anemia, Abnormal heart morphology ORPHA:79284
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Megaloblastic anemia, Neutropenia, Thrombocytopenia OMIM:277380
Igg4-Related Pachymeningitis
Eosinophilia, Abnormality of the optic nerve ORPHA:449427
Shwachman-Diamond Syndrome 1
Pancytopenia, Acute myeloid leukemia, Neutropenia, Anemia, Myocardial necrosis, Persistence of he... OMIM:260400
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Leukocytosis, Anemia, Acute monocytic leukemia, Lymphocytosis ORPHA:514
Schimke Immuno-Osseous Dysplasia
Bone marrow hypocellularity, Abnormal proportion of naive CD4 T cells, Neutropenia, Anemia, Lymph... ORPHA:1830
Chédiak-Higashi Syndrome
Pancytopenia, Hepatosplenomegaly, Vacuolated lymphocytes, Hemophagocytosis, Abnormality of retina... ORPHA:167
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hemolytic-uremic syndrome, Acute kidney injury, Anuria, Hematuria, Proteinuria, Increased blood u... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hemolytic-uremic syndrome, Acute kidney injury, Anuria, Hematuria, Proteinuria, Increased blood u... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hemolytic-uremic syndrome, Acute kidney injury, Anuria, Hematuria, Proteinuria, Increased blood u... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hemolytic-uremic syndrome, Acute kidney injury, Anuria, Hematuria, Proteinuria, Increased blood u... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hemolytic-uremic syndrome, Acute kidney injury, Anuria, Hematuria, Proteinuria, Increased blood u... OMIM:612926
Immunodeficiency 92
Leukocytosis, Thrombocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B ... OMIM:619652
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Fanconi Anemia, Complementation Group C
Pancytopenia, Leukemia, Bone marrow hypocellularity, Neutropenia, Anemia, Ventricular septal defe... OMIM:227645
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia ORPHA:540
Glycogen Storage Disease Ib
Neutropenia, Lipemia retinalis, Hypoglycemia OMIM:232220
Cohen Syndrome
Chorioretinal dystrophy, Abnormality of retinal pigmentation, Neutropenia, Ventricular septal def... ORPHA:193
Lysinuric Protein Intolerance
Abnormal renal tubule morphology, Oroticaciduria, Hyperlysinuria, Proteinuria, Decreased glomerul... ORPHA:470
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume OMIM:617718
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in pres... OMIM:615952
Glycosuria, Retinopathy, Neonatal hypoglycemia, Insulin-resistant diabetes mellitus, Elevated hem... ORPHA:552
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Neutropenia, Hypertrophic cardiomyopathy OMIM:615471
Agammaglobulinemia 1, Autosomal Recessive
Neutropenia, B lymphocytopenia, Rectal abscess OMIM:601495
Immunodeficiency With Hyper-Igm, Type 1
Neutropenia, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:308230
Abnormal retinal morphology, Lung abscess, Neutropenia, Granuloma, Abnormality of the spleen, Lym... ORPHA:228119
Bare Lymphocyte Syndrome, Type Ii
Neutropenia OMIM:209920
Eosinophilia, Abnormal retinal morphology, Granuloma, Abnormality of the spleen, Pericarditis, Ab... ORPHA:228123
Blackfan-Diamond Anemia
Leukopenia, Thrombocytosis, Atrial septal defect, Erythroid hypoplasia, Acute myeloid leukemia, E... ORPHA:124
Leigh Syndrome
Hypoglycemia, Abnormality of the optic nerve, Hypertrophic cardiomyopathy, Neutropenia, Anemia, V... ORPHA:506
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Reduced renal corticomedullary differentiation, Decreased glomerular filtration rate, Global glom... OMIM:602522
Poikiloderma With Neutropenia
Neutropenia, Leukopenia, Splenomegaly OMIM:604173
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Fasting hypoglycemia, Hypoglycemia, Hyperinsulinemia, Insulin-resistant di... OMIM:262190
Bardet-Biedl Syndrome 9
Retinal degeneration, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Hyperglycemia,... OMIM:615986
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Neutropenia, Megaloblastic anemia, Thrombocytopenia, Pigmentary retinopathy OMIM:277400
Pearson Marrow-Pancreas Syndrome
Pancytopenia, Refractory sideroblastic anemia, Sideroblastic anemia, Hypoplastic anemia, Neutrope... OMIM:557000
Sepsis In Premature Infants
Leukocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia ORPHA:90051
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Optic nerve hypoplasia, Anemia, Diabetes mellitus, Secundum atrial septal defect, H... OMIM:609069
Adult-Onset Still Disease
Leukocytosis, Bone marrow hypocellularity, Neutrophilia, Splenomegaly, Myocarditis, Pericarditis ORPHA:829
Kasabach-Merritt Syndrome
Leukopenia, Neutropenia, Anemia, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytop... ORPHA:2330
Whim Syndrome
Neutropenia, Tetralogy of Fallot, Abnormality of neutrophil morphology, Lymphopenia ORPHA:51636
Shwachman-Diamond Syndrome 2
Neutropenia, Thrombocytopenia, Normocytic anemia OMIM:617941
Retinal degeneration, Increased mean corpuscular hemoglobin concentration, Neutropenia, Anemia, C... ORPHA:33364
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Autoimmune hemol... ORPHA:37042
Hereditary Amyloidosis With Primary Renal Involvement
Nephrotic syndrome, Proteinuria, Decreased glomerular filtration rate, Nocturia, Tubulointerstiti... ORPHA:85450
Spondyloenchondrodysplasia With Immune Dysregulation
Neutropenia, Autoimmune thrombocytopenia, Lymphopenia, T lymphocytopenia OMIM:607944
Agammaglobulinemia, X-Linked
T lymphocytopenia, Neutropenia, Anemia, B lymphocytopenia, Cor pulmonale OMIM:300755
Hermansky-Pudlak Syndrome
Neutropenia, Cardiomyopathy, Ocular albinism, Abnormality of the optic nerve ORPHA:79430
Pearson Syndrome
Pancytopenia, Hypoplastic spleen, Glycosuria, Bone marrow hypocellularity, Splenomegaly, Neutrope... ORPHA:699
Fanconi Anemia, Complementation Group D2
Pancytopenia, Leukemia, Bone marrow hypocellularity, Neutropenia, Anemia, Abnormal heart morpholo... OMIM:227646
Wiskott-Aldrich Syndrome
Microcytic anemia, Chronic leukemia, Abnormal eosinophil morphology, Neutropenia, Anemia, Hemolyt... ORPHA:906
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Anemia, Neutrophilia, Brain abscess, Liver abscess ORPHA:54251
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay
Neutropenia, Anemia, Atrial septal defect, Acute myeloid leukemia OMIM:601347
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Transient neutropenia, Chronic neutropenia, Abnormal right ventricle morphology, Ventricular sept... ORPHA:500095
X-Linked Intellectual Disability, Nascimento Type
Tetralogy of Fallot, Patent foramen ovale, Double outlet right ventricle, Neutropenia, Mitral ste... ORPHA:163956
X-Linked Lymphoproliferative Disease
Pancytopenia, T lymphocytopenia, Hepatosplenomegaly, Bone marrow hypocellularity, Histiocytosis, ... ORPHA:2442
Diamond-Blackfan Anemia 1
Congenital hypoplastic anemia, Thrombocytosis, Atrial septal defect, Tricuspid stenosis, Elevated... OMIM:105650
Psoriasis 14, Pustular
Neutrophilia, Leukocytosis OMIM:614204
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Neutrophilia, Thrombocytopenia OMIM:619644
Glycogen Storage Disease Iv
Tubulointerstitial fibrosis OMIM:232500
Tropical Endomyocardial Fibrosis
Eosinophilia, Coronary artery stenosis, Myocardial calcification, Splenomegaly, Restrictive cardi... ORPHA:75565
Cartilage-Hair Hypoplasia
Abnormality of retinal pigmentation, Neutropenia, Anemia, Cardiomyopathy, Abnormal cardiac septum... ORPHA:175
Purine Nucleoside Phosphorylase Deficiency
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence o... OMIM:613179
Lymphatic Filariasis
Hypereosinophilia ORPHA:2035
Relapsing Fever
Leukopenia, Leukocytosis, Neutrophilia, Anemia, Thrombocytopenia ORPHA:91547
Staphylococcal Necrotizing Pneumonia
Leukocytosis, Neutrophilia, Leukopenia, Diabetes mellitus ORPHA:36238
Igg4-Related Ophthalmic Disease
Eosinophilia, Abnormality of the optic nerve ORPHA:449563
Toxic Epidermal Necrolysis
Neutropenia, Anemia, Abnormal myocardium morphology, Thrombocytopenia ORPHA:537
Igg4-Related Submandibular Gland Disease
Eosinophilia ORPHA:449432
Pericarditis, Retinal detachment, Myocarditis, Neutropenia, Retinal arterial occlusion, Diabetes ... ORPHA:73263
Cryptogenic Organizing Pneumonia
Neutrophilia, Leukocytosis ORPHA:1302
Diffuse Cutaneous Mastocytosis
Myeloproliferative disorder, Lymphocytosis, Abnormality of the spleen ORPHA:79456
Insulin-Resistance Syndrome Type B
Glycosuria, Diabetic ketoacidosis, Fasting hypoglycemia, Leukopenia, Insulin resistance, Hyperins... ORPHA:2298
Herpes Simplex Virus Encephalitis
Neutrophilia, Leukocytosis ORPHA:1930
Igg4-Related Kidney Disease
Eosinophilia, Pericarditis ORPHA:449395
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Neutrophilia, Increased proportion of CD4-positive T cells OMIM:617099
Kikuchi-Fujimoto Disease
Leukopenia, Splenomegaly, Myocarditis, Neutropenia, Anemia, Lymphocytosis, Thrombocytopenia ORPHA:50918
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Pancytopenia, Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Hypersple... ORPHA:228426
Arima Syndrome
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Tubulointerstitial fibrosis, Renal t... OMIM:243910
Cushing Disease
Leukocytosis, Optic nerve compression, Decreased eosinophil count, Lymphopenia, Diabetes mellitus... ORPHA:96253
Rothmund-Thomson Syndrome
Neutropenia, Anemia, Leukemia, Aplastic anemia ORPHA:2909
Eosinophilia, Leukopenia, Increased T cell count, Anemia, Hemolytic anemia, Thrombocytopenia ORPHA:797
Rothmund-Thomson Syndrome Type 1
Neutropenia, Anemia, Leukemia, Aplastic anemia ORPHA:221008
Pediatric-Onset Graves Disease
Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia, Splenomegaly ORPHA:525731
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Neutropenia OMIM:271510
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Hepatosplenomegaly, Patent foramen ovale, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... ORPHA:391487
Hyper-Igd Syndrome
Hepatosplenomegaly, Leukocytosis, Neutrophilia, Splenomegaly, Rod-cone dystrophy, Optic disc pallor OMIM:260920
Viss Syndrome
Right ventricular dilatation, Hypereosinophilia, Patent foramen ovale, Coronary sinus enlargement... OMIM:619472
Rothmund-Thomson Syndrome Type 2
Neutropenia, Anemia, Leukemia, Aplastic anemia ORPHA:221016
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Hypoglycemia, Chronic neutropenia, Anemia, Abnormal myeloid leukocyte morp... ORPHA:79259
Sweet Syndrome
Sterile abscess, Dilated cardiomyopathy, Leukocytosis, Neutrophilia, Acute myeloid leukemia, Anem... ORPHA:3243
Selective Igm Deficiency
Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-positive T cells, Cutan... ORPHA:331235
Abnormal neutrophil count ORPHA:723
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Neutrophilia, Splenomegaly, Abscess OMIM:612852
Familial Mediterranean Fever
Leukocytosis, Neutrophilia, Splenomegaly, Pericarditis OMIM:249100
Gapo Syndrome
Tubulointerstitial fibrosis OMIM:230740
Neutropenia, Vacuolated lymphocytes OMIM:208400
Abnormal eosinophil morphology, Myocarditis, Pericarditis ORPHA:221
Heart Defects, Congenital, And Other Congenital Anomalies
Glycosuria, Tetralogy of Fallot, Patent foramen ovale, Double outlet left ventricle, Hypoplastic ... OMIM:600001
Cushing Syndrome Due To Ectopic Acth Secretion
Leukocytosis, Decreased eosinophil count, Lymphopenia, Diabetes mellitus, Impaired glucose tolerance ORPHA:99889
Sponastrime Dysplasia
Neutropenia ORPHA:93357
Leukocyte Adhesion Deficiency Type Ii
Microcytic anemia, Anemia, Neutrophilia, Leukocytosis ORPHA:99843
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Neutropenia, Anemia ORPHA:95455
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Leukopenia, Leukocytosis, Retinal hemorrhage, Neutrophilia, Splenomegaly, Myocardit... ORPHA:99827
Yellow Fever
Leukocytosis, Neutrophilia, Thrombocytopenia ORPHA:99829


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 Pfkfb2

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 Pfkfb2.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
High-throughput discovery of novel developmental phenotypes. Nature (September 2016) Pfkfb2tm1b(KOMP)Wtsi PMC5295821

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MGI Allele Allele Type Produced
Pfkfb2tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Pfkfb2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Pfkfb2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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