Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Pfkfb2 MGI:107815

Gene Summary

Name:

6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2

Synonyms:

PFK-2/FBPase-2 gene B, 4930568D07Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage	P Value
increased basophil cell number	Pfkfb2^{tm1b(KOMP)Wtsi}	HOM	Early adult	1.09×10^-18
increased eosinophil cell number	Pfkfb2^{tm1b(KOMP)Wtsi}	HOM	Early adult	1.09×10^-06
increased fasting circulating glucose level	Pfkfb2^{tm1b(KOMP)Wtsi}	HOM	Early adult	5.65×10^-05
thin ventricular wall	Pfkfb2^{tm1b(KOMP)Wtsi}	HOM	Early adult	3.69×10^-07
decreased neutrophil cell number	Pfkfb2^{tm1b(KOMP)Wtsi}	HOM	Early adult	2.49×10^-06
abnormal retina morphology	Pfkfb2^{tm1b(KOMP)Wtsi}	HOM	Early adult	2.47×10^-06
increased lymphocyte cell number	Pfkfb2^{tm1b(KOMP)Wtsi}	HOM	Early adult	4.73×10^-05

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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.

Human diseases associated with Pfkfb2 (0 diseases)
Human diseases predicted to be associated with Pfkfb2 (366 diseases)

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	Matching phenotypes	Source
Eosinophilia, Familial	Anemia, Myocardial eosinophilic infiltration, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Neutropenia, Lethal Congenital, With Eosinophilia	Neutropenia, Eosinophilia	OMIM:257100
Immunodeficiency 88	Eosinophilia	OMIM:619630
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder	OMIM:131440
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc...	OMIM:202700
Whim Syndrome 2	Chronic neutropenia, Tetralogy of Fallot	OMIM:619407
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Hypereosinophilic Syndrome, Idiopathic	Restrictive cardiomyopathy, Endocardial fibrosis, Eosinophilia, Myeloproliferative disorder, Sple...	OMIM:607685
Immunodeficiency 110 With Lymphoproliferation	Neutropenia, Lymphopenia, Atrial septal defect	OMIM:614868
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Ichthyosis-Prematurity Syndrome	Eosinophilia	ORPHA:88621
Cyclic Neutropenia	Cyclic neutropenia	OMIM:162800
Acute Myelomonocytic Leukemia	Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia	ORPHA:517
Immunodeficiency 50	Neutropenia, Lymphopenia	OMIM:300988
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, Neutropenia, B lymphocytopenia	OMIM:613107
Immunodeficiency 103, Susceptibility To Fungal Infections	Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell...	OMIM:212050
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Juvenile Temporal Arteritis	Leukocytosis, Eosinophilia	ORPHA:26137
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Neutropenia	ORPHA:90023
Macrosomia Adiposa Congenita	Eosinophilia	OMIM:248100
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Neutropenia	OMIM:616022
Neutropenia, Chronic Familial	Neutropenia	OMIM:162700
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Glutathione Synthetase Deficiency	Pigmentary retinopathy, Neutropenia, Hemolytic anemia	OMIM:266130
Generalized Eruptive Histiocytosis	Hypereosinophilia, Histiocytosis, Leukemia	ORPHA:157991
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal tubular atrophy, Proximal tubulopathy, Renal insufficiency, Microscopic hematuria, Glomerul...	OMIM:310468
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel...	ORPHA:521
Trimethylaminuria	Anemia, Neutropenia, Splenomegaly	OMIM:602079
Halothane Hepatitis	Eosinophilia	OMIM:234350
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Eosinophilopenia	Decreased eosinophil count	OMIM:131430
Neutropenia, Severe Congenital, X-Linked	Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia	OMIM:300299
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Renal tubular atrophy, Hyperechogenic kidneys, Renal hypoplasia, Proteinuria, Focal segmental glo...	OMIM:613092
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Kimura Disease	Eosinophilia	ORPHA:482
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Neutropenia	OMIM:610798
Loeffler Endocarditis	Restrictive cardiomyopathy, Abnormal morphology of the chordae tendinae of the mitral valve, Left...	ORPHA:75566
X-Linked Severe Congenital Neutropenia	Neutropenia, Monocytopenia	ORPHA:86788
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Increased mean corpusc...	OMIM:619041
Anemia, Sideroblastic, 5	Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia	OMIM:619523
Wolfram Syndrome, Mitochondrial Form	Megaloblastic anemia, Optic atrophy, Sideroblastic anemia, Diabetes mellitus, Thrombocytopenia, N...	OMIM:598500
Fanconi Anemia, Complementation Group G	Anemia, Thrombocytopenia, Neutropenia, Leukemia	OMIM:614082
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Neutropenia	OMIM:615214
Ras-Associated Autoimmune Leukoproliferative Disorder	Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Monocyt...	OMIM:614470
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Leukopenia, Anemia, Extramedullary hematopoiesis, Thrombocytopenia, Neutropenia, Splenomegaly	OMIM:615285
Autoimmune Lymphoproliferative Syndrome	Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Increased...	OMIM:601859
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Neutropenia, Absent circulating B cells	OMIM:613501
Diamond-Blackfan Anemia 4	Reticulocytopenia, Erythroid hypoplasia, Atrial septal defect, Macrocytic anemia, Neutropenia	OMIM:612527
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreased proport...	ORPHA:169154
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Type I diabetes mellitus, Absent circulating B cells	OMIM:619707
Esophagitis, Eosinophilic, 1	Eosinophilia	OMIM:610247
Esophagitis, Eosinophilic, 2	Eosinophilia	OMIM:613412
Immunodeficiency 32B	Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Impaired oxidative burst, Thrombocytopenia, Sp...	OMIM:226990
Refractory Anemia	Neutropenia, Normocytic anemia, Erythroid hypoplasia, Bone marrow hypocellularity, Macrocytic ane...	ORPHA:98826
Alpha-Thalassemia-Myelodysplastic Syndrome	Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia	ORPHA:231401
Acquired Idiopathic Sideroblastic Anemia	Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt...	ORPHA:75564
Immunodeficiency 21	Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly...	OMIM:614172
Cinca Syndrome	Anemia, Hepatosplenomegaly, Leukocytosis, Eosinophilia, Papilledema	OMIM:607115
Immunodeficiency 97 With Autoinflammation	Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ...	OMIM:619802
Nephrotic Syndrome, Type 6	Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri...	OMIM:614196
Transcobalamin Deficiency	Thrombocytopenia, Neutropenia, Pancytopenia, Lymphopenia	ORPHA:859
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Neutropenia, Acute lymphoblastic leukemia	OMIM:610738
Wells Syndrome	Eosinophilia	ORPHA:901
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Specific Granule Deficiency 1	Absent neutrophil specific granules, Hyposegmentation of neutrophil nuclei, Absent neutrophil lac...	OMIM:245480
Immunodeficiency 11B With Atopic Dermatitis	Eosinophilia	OMIM:617638
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Splenomegaly	OMIM:606445
Felty Syndrome	Neutropenia, Splenomegaly	OMIM:134750
Immunodeficiency 7	Hypereosinophilia, Autoimmune hemolytic anemia, Neutropenia, Splenomegaly	OMIM:615387
Joubert Syndrome 35	Renal fibrosis, Recurrent urinary tract infections, Multicystic kidney dysplasia, Hydronephrosis	OMIM:618161
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Abnormally low T cell receptor excision circle level, Eosinophilia	OMIM:618092
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Hypoplastic a...	OMIM:159550
Thrombocytopenia 5	Anemia, Thrombocytopenia, Neutropenia	OMIM:616216
Roifman Syndrome	Ventricular septal defect, Retinal dystrophy, Noncompaction cardiomyopathy, Eosinophilia, Splenom...	OMIM:616651
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia, Monocytosis, Apl...	ORPHA:486
Folate Malabsorption, Hereditary	Leukopenia, Thrombocytopenia, Neutropenia, Folate-responsive megaloblastic anemia	OMIM:229050
Pontocerebellar Hypoplasia, Type 15	Chronic neutropenia, Thrombocytopenia, Anemia	OMIM:619302
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Neutropenia	OMIM:613502
Immunodeficiency 46	Anemia, Neutropenia, Intermittent thrombocytopenia	OMIM:616740
Interstitial Nephritis, Karyomegalic	Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ...	OMIM:614817
Hemophagocytic Lymphohistiocytosis, Familial, 4	Anemia, Hemophagocytosis, Thrombocytopenia, Neutropenia, Splenomegaly	OMIM:603552
Hemochromatosis, Type 3	Anemia, Neutropenia, Lymphopenia, Cardiomyopathy	OMIM:604250
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Eosinophilia	OMIM:253600
Autoimmune Lymphoproliferative Syndrome, Type Iia	Increased B cell count, Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutrop...	OMIM:603909
Eosinophilic Fasciitis	Abnormal eosinophil morphology, Eosinophilia	ORPHA:3165
Adult Idiopathic Neutropenia	Monocytopenia, Lymphopenia, Abnormal neutrophil count, Monocytosis, Neutropenia	ORPHA:2688
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	B lymphocytopenia, Absent circulating B cells, Hypertrophic cardiomyopathy, Decreased proportion ...	OMIM:619705
Spinocerebellar Ataxia, Autosomal Recessive 23	Neutropenia	OMIM:616949
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Neutropenia, Macrocytic anemia	OMIM:612563
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	B lymphocytopenia, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocytopenia, Splenomega...	OMIM:150550
Roifman Syndrome	Retinal dystrophy, Noncompaction cardiomyopathy, Eosinophilia, Hepatosplenomegaly	ORPHA:353298
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Coombs-positive hemolytic anemia, Type I diabetes mellitus, Autoimmune thrombocytopenia, ...	OMIM:304790
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive	Eosinophilia	OMIM:618523
Immunodeficiency 49	T lymphocytopenia, Decreased proportion of naive CD4 T cells, Lymphopenia, Abnormally low T cell ...	OMIM:617237
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant	Cutaneous abscess, Eosinophilia	OMIM:147060
Immunodeficiency With Hyper-Igm, Type 3	Neutropenia	OMIM:606843
Bone Marrow Failure Syndrome 6	Anemia, Lymphopenia, Persistence of hemoglobin F, Bone marrow hypocellularity, Increased mean cor...	OMIM:618849
Idiopathic Aplastic Anemia	Retinal hemorrhage, Anemia, Reticulocytopenia, Pancytopenia, Bone marrow hypocellularity, Thrombo...	ORPHA:88
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Neutropenia, Bone marrow hypocellularity	OMIM:617243
Immunodeficiency 60 And Autoimmunity	Splenomegaly, Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count	OMIM:618394
Whim Syndrome 1	Neutropenia	OMIM:193670
Immunodeficiency 25	Autoimmune hemolytic anemia, T lymphocytopenia, Eosinophilia	OMIM:610163
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anemia, Optic atrophy, Thrombocytopenia, Neutropenia, Splenomegaly, Cardiomyopathy	ORPHA:79312
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal natural killer cell count, Abnormal B cell count, Hepatosplenomegaly, Lymphopenia, Autoi...	ORPHA:331206
Nephronophthisis 3	Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Ne...	OMIM:604387
Peeling Skin Syndrome 1	Eosinophilia	OMIM:270300
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Neutropenia	OMIM:618752
Retinoschisis 1, X-Linked, Juvenile	Retinal pigment epithelial atrophy, Vitreous hemorrhage, Retinal atrophy, Retinal degeneration, M...	OMIM:312700
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased proportion of CD3-positive T cells, Lymphopenia, Eosinophilia, Hepatosplenomegaly	ORPHA:169160
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive	Sterile abscess, Cutaneous abscess, Atrial septal defect, Eosinophilia, Pulmonic stenosis	OMIM:618282
Nephronophthisis 4	Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Ne...	OMIM:606966
Systemic Mastocytosis With Associated Hematologic Neoplasm	Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C...	ORPHA:98849
Nephronophthisis 1	Renal tubular atrophy, Hyposthenuria, Stage 5 chronic kidney disease, Renal corticomedullary cyst...	OMIM:256100
Immunodeficiency 98 With Autoinflammation, X-Linked	B lymphocytopenia, Type I diabetes mellitus, Autoimmune hemolytic anemia, Hemophagocytosis, Bone ...	OMIM:301078
O'Sullivan-Mcleod Syndrome	Eosinophilia	ORPHA:99965
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology	ORPHA:724
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia	OMIM:616738
Diamond-Blackfan Anemia 11	Anemia, Neutropenia, Bicuspid aortic valve, Bone marrow hypocellularity, Anemia of inadequate pro...	OMIM:614900
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Optic atrophy, Thrombocytopenia, Neutropenia, Anemia	ORPHA:289916
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Elliptocytosis, Poikilocytosis, Anisocytosis, Bone marrow hypocellularity, Macrocytic anemia, Thr...	OMIM:300835
Essential Fructosuria	Hyperglycemia, Abnormal erythrocyte enzyme level	ORPHA:2056
Eosinophilic Gastroenteritis	Leukocytosis, Anemia, Eosinophilia	ORPHA:2070
Omenn Syndrome	Anemia, Leukocytosis, Eosinophilia, Splenomegaly, Abnormal lymphocyte morphology	ORPHA:39041
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilia, Hepatosplenomegaly	OMIM:618999
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	Reduced natural killer cell count, Eosinophilia, Decreased proportion of CD4-positive helper T cells	OMIM:243700
Slc35A1-Cdg	Thrombocytopenia, Neutropenia, Abnormal platelet granules, Giant platelets	ORPHA:238459
Omenn Syndrome	Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Eosinophilia, Thro...	OMIM:603554
Acquired Partial Lipodystrophy	Lymphocytosis, Insulin resistance	ORPHA:79087
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young	OMIM:613370
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Hepatos...	ORPHA:911
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutrophil chemotaxis, ...	OMIM:618986
Pelger-Huet Anomaly	Ventricular septal defect, Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Gia...	OMIM:169400
Pgm3-Cdg	Leukopenia, Reduced natural killer cell count, T lymphocytopenia, Hemolytic anemia, Abnormal prop...	ORPHA:443811
Combined Immunodeficiency Due To Partial Rag1 Deficiency	T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi...	ORPHA:231154
Microcephalic Primordial Dwarfism, Toriello Type	Neutropenia	ORPHA:2643
Lymphoproliferative Syndrome, X-Linked, 1	Lymphocytosis, Pancytopenia, Thrombocytopenia, Hemophagocytosis, Aplastic anemia, Neutropenia, Sp...	OMIM:308240
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Neonatal Alloimmune Neutropenia	Neutropenia in presence of anti-neutropil antibodies, Maternal diabetes	ORPHA:464370
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Acute lymphoblastic leukemia, ...	ORPHA:158057
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	B lymphocytopenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Aplasia of ...	OMIM:602450
Developmental And Epileptic Encephalopathy 66	Anemia, Ventricular septal defect, Atrial septal defect, Dextrocardia, Neutropenia	OMIM:618067
Necrotizing Enterocolitis	Abnormal glucose homeostasis, Abnormal heart morphology, Leukocytosis, Hyperglycemia, Thrombocyto...	ORPHA:391673
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune hemoly...	OMIM:619220
Diabetes And Deafness, Maternally Inherited	Type II diabetes mellitus, Retinal degeneration, Hyperglycemia, Pigmentary retinopathy, Cardiomyo...	OMIM:520000
Hereditary Folate Malabsorption	Thrombocytopenia, Megaloblastic anemia, Pancytopenia, Eosinophilia	ORPHA:90045
Immunodeficiency 67	Liver abscess, Transient neutropenia	OMIM:607676
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Leukopenia, Hypoglycemia, Thrombocytopenia, Neutropenia, Cardiomyopathy	OMIM:251000
Cohen Syndrome	Leukopenia, Optic atrophy, Mitral valve prolapse, Bone spicule pigmentation of the retina, Chorio...	OMIM:216550
Aspergillosis	Neutropenia, Eosinophilia, Vitritis	ORPHA:1163
Autoinflammatory Disease, Systemic, X-Linked	Chorioretinitis, B lymphocytopenia, Hepatosplenomegaly, Optic neuritis, Neutropenia	OMIM:301081
Idiopathic Chronic Eosinophilic Pneumonia	Hypereosinophilia, Leukocytosis	ORPHA:2902
Specific Granule Deficiency 2	Thrombocytopenia, Neutropenia, Absent neutrophil specific granules, Anemia	OMIM:617475
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Neutropenia	OMIM:617056
Immunodeficiency 102	Leukopenia, Anemia, Reduced natural killer cell count, B lymphocytopenia, Neutropenia in presence...	OMIM:301082
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Tubulointerstitial nephritis, Renal tubular atrophy, Stage 5 chronic kidney disease, Renal cortic...	OMIM:174000
Propionic Acidemia	Anemia, Pancytopenia, Hypoglycemia, Thrombocytopenia, Neutropenia, Cardiomyopathy	OMIM:606054
Senior-Loken Syndrome 1	Impaired renal concentrating ability, Stage 5 chronic kidney disease, Thickening of the tubular b...	OMIM:266900
Drug Reaction With Eosinophilia And Systemic Symptoms	Lymphocytosis, Myocarditis, Eosinophilia	ORPHA:139402
Mitochondrial Complex I Deficiency, Nuclear Type 33	Hypoglycemia, Neutropenia, Optic atrophy	OMIM:618253
Griscelli Syndrome Type 2	Neutropenia, Hemophagocytosis, Splenomegaly, Pancytopenia	ORPHA:79477
Aggressive Systemic Mastocytosis	Anemia, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Increased proportion of CD25+ mast cells...	ORPHA:98850
Neonatal Lupus Erythematosus	Anemia, Neutropenia, Hemolytic anemia, Dilated cardiomyopathy, Pancytopenia, Abnormal heart morph...	ORPHA:398124
Aregenerative Anemia	Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni...	ORPHA:101096
Barth Syndrome	Dilated cardiomyopathy, Hypochromic microcytic anemia, Hypertrophic cardiomyopathy, Cyclic neutro...	OMIM:302060
Immunodeficiency 23	Hemolytic anemia, Lymphopenia, Eosinophilia, Neutropenia, Abscess	OMIM:615816
Congenital Enterovirus Infection	Leukopenia, Anemia, Neutropenia, Abnormal macrophage morphology, Pericardial effusion, Leukocytos...	ORPHA:292
Onychotrichodysplasia And Neutropenia	Chronic neutropenia, Lymphocytosis, Neutropenia	OMIM:258360
Congenital Disorder Of Glycosylation, Type Iif	Thrombocytopenia, Neutropenia, Macrothrombocytopenia	OMIM:603585
Netherton Syndrome	Hypereosinophilia	OMIM:256500
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia, Optic disc pallor, Retinal thinning	OMIM:618970
Autoinflammation With Arthritis And Dyskeratosis	Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly	OMIM:617388
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve...	OMIM:608203
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant	Reduced natural killer cell count, Neutropenia, Cutaneous abscess, Lymphopenia	OMIM:619752
Cyclic Neutropenia	Perianal abscess, Decreased eosinophil count, Lymphopenia, Cyclic neutropenia, Thrombocytopenia, ...	ORPHA:2686
Imerslund-Gräsbeck Syndrome	Megaloblastic anemia, Anisopoikilocytosis, Abnormal hemoglobin concentration, Reticulocytosis, Pa...	ORPHA:35858
Immunodeficiency 14B, Autosomal Recessive	B lymphocytopenia, Neutrophilia, Thrombocytosis, Leukocytosis, Monocytosis	OMIM:619281
Cystic Echinococcosis	Peritoneal abscess, Splenic cyst, Abnormal heart morphology, Eosinophilia, Abscess	ORPHA:400
Immunodeficiency By Defective Expression Of Mhc Class Ii	T lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Pancytopenia, Autoimmune...	ORPHA:572
Diabetes Mellitus, Permanent Neonatal, 4	Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus, Hyperglycemia	OMIM:618858
Autoimmune Lymphoproliferative Syndrome	Increased B cell count, Abnormal proportion of CD8-positive T cells, Coombs-positive hemolytic an...	ORPHA:3261
Fanconi Anemia, Complementation Group I	Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Optic nerve hypoplasia, Bo...	OMIM:609053
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	B lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Severe B lymphocytopenia, Autoimmune...	OMIM:102700
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Thrombocytopenia, Neutropenia, Atrial septal defect, Normochromic anemia	OMIM:614857
Iga Pemphigus	Cutaneous abscess, Eosinophilia	ORPHA:555905
3-Methylglutaconic Aciduria Type 7	Neonatal hypoglycemia, Infection associated neutropenia, Bone marrow hypocellularity, Neutropenia...	ORPHA:445038
Igg4-Related Aortitis	Hypereosinophilia	ORPHA:449400
Incontinentia Pigmenti	Retinal hemorrhage, Retinal vascular proliferation, Optic atrophy, Hypoplasia of the fovea, Leuko...	OMIM:308300
Chediak-Higashi Syndrome	Leukopenia, Anemia, Ocular albinism, Macular hypoplasia, Giant neutrophil granules, Hemophagocyto...	OMIM:214500
Felty Syndrome	Anemia, Pericarditis, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Splenomegaly, A...	ORPHA:47612
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology	ORPHA:1164
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Lymphopenia, Eosinophilia	OMIM:617425
Eosinophilic Granulomatosis With Polyangiitis	Endocarditis, Abnormal pericardium morphology, Hypertrophic cardiomyopathy, Eosinophilia, Myocard...	ORPHA:183
Wolcott-Rallison Syndrome	Double outlet right ventricle, Neonatal insulin-dependent diabetes mellitus, Lymphocytosis, Atria...	ORPHA:1667
Letterer-Siwe Disease	Thrombocytopenia, Anemia, Neutropenia, Hepatosplenomegaly	OMIM:246400
Diabetes Mellitus, Transient Neonatal, 3	Hyperglycemia, Transient neonatal diabetes mellitus, Maternal diabetes, Elevated hemoglobin A1c	OMIM:610582
Dyskeratosis Congenita, Autosomal Dominant 2	Leukopenia, Dilated cardiomyopathy, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, ...	OMIM:613989
3-Methylglutaconic Aciduria, Type Viia	Anemia, Neutropenia, Anisopoikilocytosis	OMIM:619835
Transient Neonatal Diabetes Mellitus	Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Maternal diabetes, Maturity-onset di...	ORPHA:99886
Hereditary Renal Hypouricemia	Acute kidney injury, Abnormal renal tubule morphology, Hematuria, Abnormal renal physiology, Hype...	ORPHA:94088
Macrophage Activation Syndrome	Abnormal natural killer cell count, Anemia, Hemophagocytosis, Thrombocytopenia, Neutropenia, Sple...	ORPHA:158061
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Fanconi Renotubular Syndrome 5	Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, Tubulointerstitial fibrosis	OMIM:618913
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Type I diabetes mellitus, Hypoglycemia, Macrocytic anemia, Eosinophilia	ORPHA:199299
Deafness-Lymphedema-Leukemia Syndrome	Abnormal neutrophil count, Bone marrow hypocellularity, Leukocytosis, Myeloproliferative disorder...	ORPHA:3226
Immunodeficiency, Common Variable, 1	Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo...	OMIM:607594
Diabetes Mellitus, Permanent Neonatal, 1	Hyperglycemia, Diabetes mellitus, Elevated hemoglobin A1c, Type I diabetes mellitus	OMIM:606176
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Thrombocytopenia, Neutropenia, Bone marrow hypocellularity, Anemia	OMIM:614520
Diamond-Blackfan Anemia 7	Ventricular septal defect, Neutropenia, Secundum atrial septal defect, Macrocytic anemia, Increas...	OMIM:612562
Mucopolysaccharidosis-Plus Syndrome	Leukopenia, Anemia, Optic atrophy, Chorioretinal hypopigmentation, Atrial septal defect, Hypertro...	OMIM:617303
Alport Syndrome	Renal tubular atrophy, IgA deposition in the glomerulus, Glomerular basement membrane lamellation...	ORPHA:63
Autosomal Dominant Hyper-Ige Syndrome	Eosinophilia	ORPHA:2314
Acute Promyelocytic Leukemia	Leukopenia, Anemia, Pancytopenia, Leukocytosis, Thrombocytopenia, Neutropenia	ORPHA:520
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Leukopenia, Anemia, Reticulocytopenia, B lymphocytopenia, Noncompaction cardiomyopathy, Lymphopen...	ORPHA:508542
Developmental Delay, Hypotonia, And Impaired Language	Neutropenia	OMIM:620012
Mucoepithelial Dysplasia, Hereditary	Cor pulmonale, Eosinophilia	OMIM:158310
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Thrombocytopenia, Neutropenia, Anemia	ORPHA:47
Shwachman-Diamond Syndrome	Acute myeloid leukemia, Chronic neutropenia, Leukopenia, Anemia, Neutropenia, Impaired neutrophil...	ORPHA:811
Transcobalamin Ii Deficiency	Reticulocytopenia, Pancytopenia, Erythroid hypoplasia, Macrocytic anemia, Neutropenia	OMIM:275350
Immunodeficiency 55	Neutropenia, Absent natural killer cells, Lymphopenia	OMIM:617827
Evans Syndrome	Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, Autoimmune thr...	ORPHA:1959
Trichothiodystrophy 3, Photosensitive	Neutropenia, Lymphopenia	OMIM:616395
Alveolar Echinococcosis	Abnormal pericardium morphology, Anemia, Liver abscess, Abnormal spleen morphology, Cutaneous abs...	ORPHA:284
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Hypoglycemia, Neutropenia, Atrial septal defect	OMIM:618005
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Leukopenia, Splenomegaly, Anemia, Hypoplasia of the thymus, Perianal abscess, Secundum atrial sep...	OMIM:612541
Incontinentia Pigmenti	Retinal hemorrhage, Retinal vascular proliferation, Abnormal chorioretinal morphology, Eosinophil...	ORPHA:464
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young	OMIM:609812
Angiostrongyliasis	Hypereosinophilia	ORPHA:74
Vici Syndrome	Leukopenia, T lymphocytopenia, Ocular albinism, Macular hypoplasia, Left ventricular hypertrophy,...	OMIM:242840
Fanconi Anemia, Complementation Group E	Anemia, Reticulocytopenia, Pancytopenia, Abnormal heart morphology, Thrombocytopenia, Neutropenia...	OMIM:600901
Autosomal Agammaglobulinemia	Neutropenia	ORPHA:33110
Methylcobalamin Deficiency Type Cble	Increased mean corpuscular volume, Neutropenia, Macrocytic anemia, Pancytopenia	ORPHA:2169
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Anemia, Megaloblastic anemia, Atrial septal defect, Pancytopenia, Dextrocardia, Thrombocytopenia,...	OMIM:277380
Interstitial Pneumonitis, Desquamative, Familial	Tubulointerstitial fibrosis	OMIM:263000
Dent Disease	Renal phosphate wasting, Aminoaciduria, Non-acidotic proximal tubulopathy, Proximal tubulopathy, ...	ORPHA:1652
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Megaloblastic anemia, Optic atrophy, Retinal degeneration, Dilated cardiomyopathy, Hypoglycemia, ...	ORPHA:79282
Idiopathic Hypereosinophilic Syndrome	Anemia, Neutrophilia, Dilated cardiomyopathy, Hepatosplenomegaly, Myocardial eosinophilic infiltr...	ORPHA:3260
Immunodeficiency, Common Variable, 8, With Autoimmunity	Chronic neutropenia, B lymphocytopenia, Type I diabetes mellitus, Pancytopenia, Autoimmune thromb...	OMIM:614700
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hypereosinophilia, T lymphocytopenia, Mitral valve prolapse, Decreased proportion of CD8-positive...	ORPHA:508533
Scleroderma	Pericarditis, Interstitial cardiac fibrosis, Myocarditis, Hypereosinophilia	ORPHA:801
Hemophagocytic Syndrome Associated With An Infection	Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Pancytopenia, He...	ORPHA:158048
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Acute myelomonocytic leukemia, Lymphocytosis, Pancytopenia, Bone marrow h...	ORPHA:86843
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Decreased CD4:CD8 ratio, Enlarged platelet dense granules, Ocu...	OMIM:608233
Fanconi Anemia, Complementation Group A	Anemia, Reticulocytopenia, Pancytopenia, Abnormal heart morphology, Thrombocytopenia, Neutropenia...	OMIM:227650
Wiskott-Aldrich Syndrome	Absent microvilli on the surface of peripheral blood lymphocytes, Decreased proportion of CD8-pos...	OMIM:301000
3-Methylglutaconic Aciduria, Type Viib	Leukopenia, Thrombocytopenia, Neutropenia, Neonatal hypoglycemia	OMIM:616271
Methylmalonic Aciduria, Cblb Type	Anemia, Thrombocytopenia, Neutropenia, Pancytopenia	OMIM:251110
Acute Monoblastic/Monocytic Leukemia	Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia	ORPHA:514
Hermansky-Pudlak Syndrome 10	Neutropenia, Splenomegaly, Ocular albinism	OMIM:617050
Immunodeficiency 89 And Autoimmunity	Hypochromic microcytic anemia, Decreased eosinophil count	OMIM:619632
Schimke Immunoosseous Dysplasia	Anemia, Abnormal T cell morphology, Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia	OMIM:242900
Schimke Immuno-Osseous Dysplasia	Anemia, Lymphopenia, Bone marrow hypocellularity, Decreased proportion of naive CD8 T cells, Thro...	ORPHA:1830
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Multiple small medullary renal cysts, Enlarged kidney, Polycystic kidney dysplasia, Absence of re...	OMIM:263200
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Stage 5 chronic kidney disease, Hematuria...	OMIM:612925
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Optic atrophy, Neutropenia, Microcytic anemia	OMIM:251900
Methylmalonic Acidemia With Homocystinuria Type Cblf	Neutropenia, Megaloblastic anemia, Abnormal heart morphology	ORPHA:79284
Congenital Disorder Of Glycosylation, Type Iic	Reduction of neutrophil motility, Neutrophilia	OMIM:266265
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Anemia, Pancytopenia, Persistence of hemoglobin F, Myocardial necrosis, T...	OMIM:260400
Cohen Syndrome	Ventricular septal defect, Optic atrophy, Mitral valve prolapse, Abnormality of retinal pigmentat...	ORPHA:193
Chédiak-Higashi Syndrome	Anemia, Neutropenia, Pericardial effusion, Pancytopenia, Hepatosplenomegaly, Abnormality of retin...	ORPHA:167
Igg4-Related Pachymeningitis	Abnormal optic nerve morphology, Eosinophilia	ORPHA:449427
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,...	OMIM:612924
Methylmalonic Aciduria, Cbla Type	Anemia, Thrombocytopenia, Neutropenia, Pancytopenia	OMIM:251100
Mody	Transient neonatal diabetes mellitus, Retinopathy, Diabetic ketoacidosis, Glycosuria, Neonatal hy...	ORPHA:552
Familial Hemophagocytic Lymphohistiocytosis	Anemia, Hemophagocytosis, Thrombocytopenia, Neutropenia, Splenomegaly	ORPHA:540
Immunodeficiency 92	B lymphocytopenia, Lymphocytosis, Decreased proportion of class-switched memory B cells, Thromboc...	OMIM:619652
Fanconi Anemia, Complementation Group C	Anemia, Ventricular septal defect, Reticulocytopenia, Pancytopenia, Bone marrow hypocellularity, ...	OMIM:227645
Lysinuric Protein Intolerance	Tubulointerstitial nephritis, Hyperlysinuria, Renal amyloidosis, Abnormal renal tubule morphology...	ORPHA:470
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,...	OMIM:612926
Thrombocytopenia-Absent Radius Syndrome	Atrioventricular canal defect, Anemia, Ventricular septal defect, Atrial septal defect, Hepatospl...	OMIM:274000
Cartilage-Hair Hypoplasia	Anemia, Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemi...	OMIM:250250
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Neutropenia in presence of anti-neutropil antibodies, Type I diabetes mellitus, Autoimmune thromb...	OMIM:615952
Fusariosis	Brain abscess, Abnormal retinal morphology, Granuloma, Lung abscess, Lymphopenia, Abnormality of ...	ORPHA:228119
Glycogen Storage Disease Ib	Hypoglycemia, Neutropenia, Splenomegaly, Lipemia retinalis	OMIM:232220
Leigh Syndrome	Anemia, Ventricular septal defect, Optic atrophy, Hypertrophic cardiomyopathy, Hypoglycemia, Abno...	ORPHA:506
Coccidioidomycosis	Abnormal retinal morphology, Granuloma, Pericarditis, Eosinophilia, Abnormality of the spleen, Ab...	ORPHA:228123
Agammaglobulinemia 1, Autosomal Recessive	Rectal abscess, Neutropenia, B lymphocytopenia	OMIM:601495
Poikiloderma With Neutropenia	Leukopenia, Neutropenia, Splenomegaly	OMIM:604173
Bare Lymphocyte Syndrome, Type Ii	Neutropenia	OMIM:209920
Kasabach-Merritt Syndrome	Leukopenia, Anemia, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Neutrop...	ORPHA:2330
Blackfan-Diamond Anemia	Acute myeloid leukemia, Leukopenia, Ventricular septal defect, Reticulocytopenia, Pure red cell a...	ORPHA:124
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Hypertrophic cardiomyopathy, Neutropenia	OMIM:615471
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglycemia, Insulin-resist...	OMIM:262190
Pearson Marrow-Pancreas Syndrome	Anemia, Reticulocytopenia, Refractory sideroblastic anemia, Sideroblastic anemia, Type I diabetes...	OMIM:557000
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Thrombocytopenia, Neutropenia, Splenomegaly	OMIM:308230
Sepsis In Premature Infants	Anemia, Leukocytosis, Thrombocytopenia, Neutropenia, Splenomegaly	ORPHA:90051
Khan-Khan-Katsanis Syndrome	Patent foramen ovale, Anemia, Lymphopenia, Neutropenia, Pigmentary retinopathy	OMIM:618460
Adult-Onset Still Disease	Neutrophilia, Pericarditis, Bone marrow hypocellularity, Leukocytosis, Myocarditis, Splenomegaly	ORPHA:829
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Thrombocytopenia, Neutropenia, Megaloblastic anemia, Pigmentary retinopathy	OMIM:277400
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Neutropenia in presence of anti-neutropil antibodies, Type I diabetes mellitus, Autoimmune thromb...	ORPHA:37042
Hereditary Amyloidosis With Primary Renal Involvement	Tubulointerstitial nephritis, Renal tubular atrophy, Nephrotic syndrome, Renal interstitial amylo...	ORPHA:85450
Trichothiodystrophy	Increased mean corpuscular hemoglobin concentration, Anemia, Ventricular septal defect, Retinal d...	ORPHA:33364
Whim Syndrome	Lymphopenia, Tetralogy of Fallot, Neutropenia, Abnormality of neutrophil morphology	ORPHA:51636
Familial Renal Glucosuria	Glycosuria, Insulin resistance, Elevated hemoglobin A1c, Hyperglycemia, Abnormal oral glucose tol...	ORPHA:69076
Hermansky-Pudlak Syndrome	Abnormal optic nerve morphology, Neutropenia, Ocular albinism, Cardiomyopathy	ORPHA:79430
Wiskott-Aldrich Syndrome	Anemia, Hypoplasia of the thymus, Hemolytic anemia, Abnormal eosinophil morphology, Lymphopenia, ...	ORPHA:906
Pearson Syndrome	Pigmentary retinopathy, Anemia, Glycosuria, Reticulocytosis, Pancytopenia, Hypoplastic spleen, Di...	ORPHA:699
Spondyloenchondrodysplasia With Immune Dysregulation	Neutropenia, T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia	OMIM:607944
Saul-Wilson Syndrome	Neutropenia	OMIM:618150
Shwachman-Diamond Syndrome 2	Normocytic anemia, Thrombocytopenia, Neutropenia	OMIM:617941
Agammaglobulinemia, X-Linked	Anemia, T lymphocytopenia, B lymphocytopenia, Cor pulmonale, Neutropenia	OMIM:300755
Fanconi Anemia, Complementation Group D2	Anemia, Reticulocytopenia, Pancytopenia, Abnormal heart morphology, Bone marrow hypocellularity, ...	OMIM:227646
Diamond-Blackfan Anemia 1	Ventricular septal defect, Reticulocytopenia, Atrial septal defect, Thrombocytosis, Tricuspid ste...	OMIM:105650
Glycogen Storage Disease Iv	Tubulointerstitial fibrosis	OMIM:232500
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Anemia, Brain abscess, Neutrophilia	ORPHA:54251
X-Linked Lymphoproliferative Disease	Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ...	ORPHA:2442
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Impaired renal concentrating ability, Renal salt wasting, Hypernatriuria, Hyperchloriduria, Reduc...	OMIM:602522
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hepatosplenomegaly, Hemophagocytosis, Monocytosis, Thrombocytopenia	OMIM:619644
Relapsing Fever	Leukopenia, Anemia, Neutrophilia, Leukocytosis, Thrombocytopenia	ORPHA:91547
Thauvin-Robinet-Faivre Syndrome	Mitral valve prolapse, Transient neutropenia, Ventricular septal defect, Retinal coloboma	OMIM:617107
Tropical Endomyocardial Fibrosis	Restrictive cardiomyopathy, Coronary artery stenosis, Right ventricular cardiomyopathy, Endocardi...	ORPHA:75565
Purine Nucleoside Phosphorylase Deficiency	Neutropenia in presence of anti-neutropil antibodies, Pure red cell aplasia, Lymphopenia, Autoimm...	OMIM:613179
X-Linked Intellectual Disability, Nascimento Type	Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Neutropenia, Mitr...	ORPHA:163956
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Chronic neutropenia, Abnormal right ventricle morphology, Ventricular septal defect, Mitral valve...	ORPHA:500095
Zygomycosis	Endocarditis, Brain abscess, Neutropenia, Pericarditis, Diabetes mellitus, Retinal arterial occlu...	ORPHA:73263
Psoriasis 14, Pustular	Neutrophilia, Leukocytosis	OMIM:614204
Lymphatic Filariasis	Hypereosinophilia	ORPHA:2035
Cartilage-Hair Hypoplasia	Anemia, Abnormal cardiac septum morphology, Abnormality of retinal pigmentation, Neutropenia, Car...	ORPHA:175
Igg4-Related Submandibular Gland Disease	Eosinophilia	ORPHA:449432
Toxic Epidermal Necrolysis	Anemia, Thrombocytopenia, Neutropenia, Abnormal myocardium morphology	ORPHA:537
Staphylococcal Necrotizing Pneumonia	Diabetes mellitus, Neutrophilia, Leukopenia, Leukocytosis	ORPHA:36238
Diffuse Cutaneous Mastocytosis	Lymphocytosis, Abnormality of the spleen, Myeloproliferative disorder	ORPHA:79456
Cryptogenic Organizing Pneumonia	Neutrophilia, Leukocytosis	ORPHA:1302
Igg4-Related Ophthalmic Disease	Abnormal optic nerve morphology, Eosinophilia	ORPHA:449563
Herpes Simplex Virus Encephalitis	Neutrophilia, Leukocytosis	ORPHA:1930
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Increased proportion of CD4-positive T cells, Leukocytosis	OMIM:617099
Insulin-Resistance Syndrome Type B	Leukopenia, Hyperinsulinemia, Fasting hypoglycemia, Diabetic ketoacidosis, Type II diabetes melli...	ORPHA:2298
Kikuchi-Fujimoto Disease	Leukopenia, Anemia, Neutropenia, Lymphocytosis, Thrombocytopenia, Myocarditis, Splenomegaly	ORPHA:50918
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Patent foramen ovale, T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutr...	ORPHA:391487
Rothmund-Thomson Syndrome	Aplastic anemia, Neutropenia, Leukemia, Anemia	ORPHA:2909
Cushing Disease	Optic nerve compression, Impaired glucose tolerance, Decreased eosinophil count, Lymphopenia, Dia...	ORPHA:96253
Sarcoidosis	Leukopenia, Anemia, Hemolytic anemia, Increased T cell count, Eosinophilia, Thrombocytopenia	ORPHA:797
Arima Syndrome	Renal tubular atrophy, Stage 5 chronic kidney disease, Renal sodium wasting, Polycystic kidney dy...	OMIM:243910
3-Methylglutaconic Aciduria, Type Viii	Neutropenia, Neonatal hypoglycemia	OMIM:617248
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Neutropenia in presence of anti-neutropil antibodies, Hypersplenism, Type I diabetes mellitus, Pa...	ORPHA:228426
Rothmund-Thomson Syndrome Type 1	Aplastic anemia, Neutropenia, Leukemia, Anemia	ORPHA:221008
Pediatric-Onset Graves Disease	Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia, Splenomegaly	ORPHA:525731
Intellectual Developmental Disorder, Autosomal Dominant 54	Neutropenia	OMIM:617799
Glycogen Storage Disease Ic	Hypoglycemia, Cyclic neutropenia	OMIM:232240
Rothmund-Thomson Syndrome Type 2	Aplastic anemia, Neutropenia, Leukemia, Anemia	ORPHA:221016
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Reduced natural killer cell count, Perianal abscess, Lymphocytosis, Thrombocytosis, Decreased pro...	OMIM:301074
Hyper-Igd Syndrome	Rod-cone dystrophy, Neutrophilia, Hepatosplenomegaly, Leukocytosis, Optic disc pallor, Splenomegaly	OMIM:260920
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Chronic neutropenia, Anemia, Abnormal myeloid leukocyte morphology, Hypoglycemic seizures, Hypogl...	ORPHA:79259
Sweet Syndrome	Acute myeloid leukemia, Anemia, Sterile abscess, Chronic lymphatic leukemia, Neutrophilia, Dilate...	ORPHA:3243
Viss Syndrome	Hypereosinophilia, Patent foramen ovale, Double outlet right ventricle, Coronary sinus enlargemen...	OMIM:619472
Igg4-Related Kidney Disease	Pericarditis, Eosinophilia	ORPHA:449395
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Neutropenia	OMIM:271510
Pancreatic And Cerebellar Agenesis	Anemia, Secundum atrial septal defect, Optic nerve hypoplasia, Diabetes mellitus, Hypoglycemia, H...	OMIM:609069
Selective Igm Deficiency	Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of CD8-positive T cell...	ORPHA:331235
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis	Neutrophilia, Splenomegaly, Abscess	OMIM:612852
Primary Sclerosing Cholangitis	Abnormal eosinophil morphology, Type I diabetes mellitus, Hepatosplenomegaly, Histiocytosis, Sple...	ORPHA:171
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume	OMIM:617718
Familial Mediterranean Fever	Pericarditis, Neutrophilia, Splenomegaly, Leukocytosis	OMIM:249100
Dermatomyositis	Pericarditis, Myocarditis, Abnormal eosinophil morphology	ORPHA:221
Aspartylglucosaminuria	Neutropenia, Vacuolated lymphocytes	OMIM:208400
Heart Defects, Congenital, And Other Congenital Anomalies	Patent foramen ovale, Truncus arteriosus, Ventricular septal defect, Perimembranous ventricular s...	OMIM:600001
Cushing Syndrome Due To Ectopic Acth Secretion	Impaired glucose tolerance, Decreased eosinophil count, Lymphopenia, Diabetes mellitus, Leukocytosis	ORPHA:99889
Gapo Syndrome	Tubulointerstitial fibrosis	OMIM:230740
Liver Disease, Severe Congenital	Subvalvular aortic stenosis, Patent foramen ovale, Anemia, Dilatation of the ventricular cavity, ...	OMIM:619991
Sponastrime Dysplasia	Neutropenia	ORPHA:93357
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anemia, Neutropenia	ORPHA:95455

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 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)	Pfkfb2^{tm1b(KOMP)Wtsi}	PMC5295821

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.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele	Allele Type	Produced
Pfkfb2^{tm1b(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Pfkfb2^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Pfkfb2^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us