Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
phenotypes
Matching phenotypes Source
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Anemia, Eosinophilia, Myocardial eosinophilic infiltration OMIM:131400
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia OMIM:131440
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Atrial septal defect, Neutropenia OMIM:614868
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Myeloproliferative disorder, Eosi... OMIM:607685
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Acute Myelomonocytic Leukemia
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia ORPHA:517
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia OMIM:615214
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
T-Cell Receptor-Alpha/Beta Deficiency
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
Histiocytosis, Leukemia, Hypereosinophilia ORPHA:157991
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia, Pigmentary retinopathy OMIM:266130
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Leukopenia, Splenomegaly, Anemia OMIM:615285
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Tubulointerstitial fibrosis, Proximal tubulopathy, Glomerular s... OMIM:310468
Halothane Hepatitis
Eosinophilia OMIM:234350
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia OMIM:613501
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ... OMIM:613092
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... OMIM:614172
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Kimura Disease
Eosinophilia ORPHA:482
Eosinophil Peroxidase Deficiency
Abnormal eosinophil morphology OMIM:261500
Retinal Venous Beading
Retinal infarction, Vitreous hemorrhage, Abnormal distribution of retinal arterioles and venules,... OMIM:180080
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Wolfram Syndrome, Mitochondrial Form
Megaloblastic anemia, Neutropenia, Thrombocytopenia, Sideroblastic anemia, Diabetes mellitus, Opt... OMIM:598500
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Specific Granule Deficiency 2
Thrombocytopenia, Absent neutrophil specific granules, Neutropenia, Anemia OMIM:617475
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Neutropenia, Anemia OMIM:614082
Candidiasis, Familial, 2
Hypereosinophilia OMIM:212050
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Pancytope... OMIM:614470
Wells Syndrome
Eosinophilia ORPHA:901
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:601859
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Atrial septal defect, Neutropenia, Reticulocytopenia, Macrocytic anemia OMIM:612527
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia OMIM:243700
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Autoimmune thromb... ORPHA:169154
Refractory Anemia
Erythroid hypoplasia, Neutropenia, Normocytic anemia, Thrombocytopenia, Normochromic anemia, Anem... ORPHA:98826
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Cinca Syndrome
Leukocytosis, Papilledema, Anemia, Hepatosplenomegaly, Eosinophilia OMIM:607115
3-Methylglutaconic Aciduria, Type Vii
Neutropenia OMIM:616271
Agammaglobulinemia 4, Autosomal Recessive
Neutropenia OMIM:613502
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Nephrotic Syndrome, Type 6
Nephrotic syndrome, Proteinuria, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis OMIM:614196
Specific Granule Deficiency 1
Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo... OMIM:245480
Transcobalamin Deficiency
Thrombocytopenia, Lymphopenia, Pancytopenia, Neutropenia ORPHA:859
Joubert Syndrome 35
Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydronephrosis OMIM:618161
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia OMIM:253600
Hemochromatosis, Type 3
Lymphopenia, Cardiomyopathy, Neutropenia, Anemia OMIM:604250
Thrombocytopenia 5
Thrombocytopenia, Neutropenia, Anemia OMIM:616216
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hypoplastic anemia, A... OMIM:159550
Roifman Syndrome
Noncompaction cardiomyopathy, Ventricular septal defect, Retinal dystrophy, Splenomegaly, Eosinop... OMIM:616651
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Thrombocytopenia, Anemia, Splenomegaly OMIM:603552
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Lymphopenia, Leukemia, Neutropenia, Acute myeloid leukemia, Aplastic anemia, Acute l... ORPHA:486
Barth Syndrome
Endocardial fibroelastosis, Neutropenia, Granulocytopenia, Dilated cardiomyopathy, Hypertrophic c... OMIM:302060
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Eosinophilia OMIM:618282
Omenn Syndrome
Severe B lymphocytopenia, Thrombocytopenia, Hypoplasia of the thymus, B lymphocytopenia, Anemia, ... OMIM:603554
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Roifman Syndrome
Hepatosplenomegaly, Noncompaction cardiomyopathy, Eosinophilia, Retinal dystrophy ORPHA:353298
Nephronophthisis 20
Nephronophthisis, Renal insufficiency, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Idiopathic Aplastic Anemia
Neutropenia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Retinal hemorrhage, Anemia, Bone ... ORPHA:88
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Thrombocytopenia, Typ... OMIM:304790
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Eosinophilia OMIM:618092
Immunodeficiency 46
Intermittent thrombocytopenia, Neutropenia, Anemia OMIM:616740
Immunodeficiency 55
Neutropenia OMIM:617827
Fanconi Anemia, Complementation Group V
Thrombocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia OMIM:617243
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Neutropenia, Lymphopenia ORPHA:2688
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia OMIM:147060
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Increased blood urea nitrogen, Glycosuria, Tubulointerstitial nephri... OMIM:614817
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T cells, Lymphopenia, Abnormal ... ORPHA:331206
Immunodeficiency 60
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly OMIM:618394
Pontocerebellar Hypoplasia, Type 14
Thrombocytopenia, Chronic neutropenia OMIM:619301
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Thrombocytopenia, Anemia, Splenomegaly, Optic atrophy, Cardiomyopathy ORPHA:79312
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Retinal d... OMIM:312700
Nephronophthisis 4
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Renal corticomedu... OMIM:606966
Immunodeficiency 49
Lymphopenia, Eosinophilia OMIM:617237
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia OMIM:606843
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume,... OMIM:618849
Immunodeficiency 25
Autoimmune hemolytic anemia, T lymphocytopenia, Eosinophilia OMIM:610163
Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive
Eosinophilia OMIM:618523
Developmental And Epileptic Encephalopathy 66
Abnormal cardiac septum morphology, Neutropenia, Anemia OMIM:618067
Nephronophthisis 3
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Enuresis, Renal tubular atrophy, Renal c... OMIM:604387
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Thrombocytopenia, ... ORPHA:98849
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Eosinophilia, Lymphopenia ORPHA:169160
Whim Syndrome 1
Neutropenia OMIM:193670
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Re... OMIM:256100
Diamond-Blackfan Anemia 11
Neutropenia, Anemia of inadequate production, Anemia, Bicuspid aortic valve, Bone marrow hypocell... OMIM:614900
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Optic atrophy, Neutropenia, Microcytic anemia OMIM:251900
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Aplastic anemia, Sp... OMIM:308240
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Thrombocytopenia, Optic atrophy, Neutropenia, Anemia ORPHA:289916
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hepatosplenomegaly, Eosinophilia OMIM:618999
Folate Malabsorption, Hereditary
Thrombocytopenia, Folate-responsive megaloblastic anemia, Neutropenia, Leukopenia OMIM:229050
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Ectopic kidney, Renal cyst, Hydronephrosis OMIM:618270
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Neutropenia, Anemia OMIM:616738
Omenn Syndrome
Leukocytosis, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Eosinophilia ORPHA:39041
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Monocytopenia, Lymphopenia, Abnormally low T cell receptor excision circle lev... OMIM:618986
Acquired Partial Lipodystrophy
Lymphocytosis, Insulin resistance ORPHA:79087
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:613370
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Autoimm... ORPHA:911
Eosinophilic Gastroenteritis
Leukocytosis, Eosinophilia, Anemia ORPHA:2070
Pelger-Huet Anomaly
Ventricular septal defect, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Neu... OMIM:169400
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Pgm3-Cdg
T lymphocytopenia, Abnormal CD4:CD8 ratio, Cutaneous abscess, Hemolytic anemia, Decreased proport... ORPHA:443811
Slc35A1-Cdg
Thrombocytopenia, Giant platelets, Neutropenia, Abnormal platelet granules ORPHA:238459
3-Methylglutaconic Aciduria, Type Viii
Neutropenia OMIM:617248
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia ORPHA:2643
Agammaglobulinemia 1, Autosomal Recessive
B lymphocytopenia, Neutropenia OMIM:601495
Necrotizing Enterocolitis
Abnormal heart morphology, Leukocytosis, Neutropenia, Thrombocytopenia, Hyperglycemia, Abnormal g... ORPHA:391673
Immunodeficiency 67
Transient neutropenia, Liver abscess OMIM:607676
Cohen Syndrome
Bull's eye maculopathy, Neutropenia, Leukopenia, Optic atrophy, Mitral valve prolapse, Bone spicu... OMIM:216550
Hereditary Folate Malabsorption
Pancytopenia, Thrombocytopenia, Eosinophilia, Megaloblastic anemia ORPHA:90045
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Atrial septal defect, Lymphopenia, Neutropenia, Cor triatriatu... OMIM:612541
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia OMIM:251190
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Neutropenia, Anemia OMIM:617056
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration, Type II diabetes mellitus, Hyperglycemia, Cardiomyo... OMIM:520000
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Fluctuating sp... OMIM:619220
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Autoimmune thrombocytopenia, Autoimmune hemolyti... OMIM:102700
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Glomerular sclerosis, Renal salt wasting, Renal tu... OMIM:174000
Aspergillosis
Vitritis, Neutropenia, Eosinophilia ORPHA:1163
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Neutropenia OMIM:600351
Neonatal Lupus Erythematosus
Hemolytic anemia, Abnormal heart morphology, Neutropenia, Pancytopenia, Thrombocytopenia, Aplasti... ORPHA:398124
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Aregenerative Anemia
Erythroid hypoplasia, Decreased proportion of CD4-positive helper T cells, Neutropenia, Reticuloc... ORPHA:101096
Congenital Enterovirus Infection
Leukocytosis, Abnormal macrophage morphology, Pericardial effusion, Neutropenia, Thrombocytopenia... ORPHA:292
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Thrombocytopenia, Atrial septal defect, Neutropenia, Anemia OMIM:614857
Griscelli Syndrome Type 2
Pancytopenia, Hemophagocytosis, Neutropenia, Splenomegaly ORPHA:79477
Drug Rash With Eosinophilia And Systemic Symptoms
Lymphocytosis, Eosinophilia, Myocarditis ORPHA:139402
Poikiloderma With Neutropenia
Neutropenia, Splenomegaly OMIM:604173
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Optic disc pallor, Retinal thinning OMIM:618970
Lichtenstein Syndrome
Neutropenia OMIM:246550
Immunodeficiency 23
Hemolytic anemia, Lymphopenia, Neutropenia, Abscess, Eosinophilia OMIM:615816
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Leukocytosis, Neutropenia, Pancytopenia, Thrombocytopen... ORPHA:98850
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Hypereosinophilia, Splenomegaly OMIM:617388
Propionic Acidemia
Neutropenia, Hypoglycemia, Pancytopenia, Thrombocytopenia, Anemia, Cardiomyopathy OMIM:606054
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision circle level, Imp... OMIM:608203
Cyclic Neutropenia
Decreased eosinophil count, Tooth abscess, Lymphopenia, Thrombocytopenia, Perianal abscess, Cycli... ORPHA:2686
Incontinentia Pigmenti
Leukocytosis, Retinal hemorrhage, Retinal detachment, Hypoplasia of the fovea, Optic atrophy, Ret... OMIM:308300
Netherton Syndrome
Hypereosinophilia OMIM:256500
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Hyperglycemia, Maternal diabetes OMIM:610582
Immunodeficiency By Defective Expression Of Mhc Class Ii
T lymphocytopenia, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, Autoimmune hemolytic anem... ORPHA:572
Fanconi Anemia, Complementation Group I
Atrial septal defect, Ventricular septal defect, Neutropenia, Optic nerve hypoplasia, Patent fora... OMIM:609053
Congenital Disorder Of Glycosylation, Type Iif
Thrombocytopenia, Neutropenia, Macrothrombocytopenia OMIM:603585
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Impaired neutrophil bactericidal activity, Neutropenia... OMIM:214500
Cystic Echinococcosis
Peritoneal abscess, Abnormal heart morphology, Splenic cyst, Abscess, Eosinophilia ORPHA:400
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, B lymphocytopenia, Neutrophilia OMIM:619281
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Lymphocytosis, Elevated proportion of CD4-negative, CD8-negativ... ORPHA:3261
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia OMIM:617425
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Abnormal heart morphology, Hypoinsulinem... ORPHA:99886
Eosinophilic Granulomatosis With Polyangiitis
Endocarditis, Abnormal pericardium morphology, Myocarditis, Eosinophilia, Hypertrophic cardiomyop... ORPHA:183
Igg4-Related Aortitis
Hypereosinophilia ORPHA:449400
Iga Pemphigus
Cutaneous abscess, Eosinophilia ORPHA:555905
Felty Syndrome
Pericarditis, Abnormal lymphocyte morphology, Neutropenia, Thrombocytopenia, Anemia, Splenomegaly... ORPHA:47612
3-Methylglutaconic Aciduria Type 7
Neonatal hypoglycemia, Neutropenia, Infection associated neutropenia, Bone marrow hypocellularity... ORPHA:445038
Letterer-Siwe Disease
Thrombocytopenia, Hepatosplenomegaly, Neutropenia, Anemia OMIM:246400
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Fanconi Renotubular Syndrome 5
Tubulointerstitial fibrosis, Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria OMIM:618913
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Neutropenia in presence... OMIM:607594
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis OMIM:618858
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Atrial septal defect, Neutropenia, Double outlet right ven... ORPHA:1667
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Thrombocytopenia, Abnormality of the optic nerve, Abno... ORPHA:3226
Late-Onset Isolated Acth Deficiency
Hypoglycemia, Normocytic anemia, Type I diabetes mellitus, Eosinophilia, Macrocytic anemia ORPHA:199299
Mucopolysaccharidosis-Plus Syndrome
Atrial septal defect, Chorioretinal hypopigmentation, Neutropenia, Thrombocytopenia, Splenomegaly... OMIM:617303
Mucoepithelial Dysplasia, Hereditary
Cor pulmonale, Eosinophilia OMIM:158310
Neonatal Alloimmune Neutropenia
Maternal diabetes, Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Thrombocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia OMIM:614520
Schimke Immunoosseous Dysplasia
Lymphopenia, Neutropenia, Thrombocytopenia, Abnormal T cell morphology, Anemia OMIM:242900
Alport Syndrome
Hematuria, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Proteinuria, Thickene... ORPHA:63
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia ORPHA:2314
Hereditary Renal Hypouricemia
Abnormal renal physiology, Abnormal renal tubule morphology, Mild proteinuria, Hematuria, Acute k... ORPHA:94088
Diamond-Blackfan Anemia 7
Ventricular septal defect, Secundum atrial septal defect, Neutropenia, Increased mean corpuscular... OMIM:612562
Transcobalamin Ii Deficiency
Pancytopenia, Macrocytic anemia, Neutropenia, Reticulocytopenia OMIM:275350
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Lymphopenia, Neutropenia, Reticulocytopenia, Thrombocytopenia, B ly... ORPHA:508542
Acute Promyelocytic Leukemia
Leukocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Anemia, Leukopenia ORPHA:520
Wiskott-Aldrich Syndrome
Iron deficiency anemia, Decreased mean platelet volume, Decreased proportion of CD8-positive T ce... OMIM:301000
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Abnormal cardiac septum morphology, Neutropenia, Hypoglycemia OMIM:618005
Shwachman-Diamond Syndrome
Abnormal heart morphology, Chronic neutropenia, Neutropenia, Impaired neutrophil chemotaxis, Norm... ORPHA:811
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Tubulointerstitial fibrosis, Enlarged kidney, Absence of renal corticomedullary differentiation, ... OMIM:263200
X-Linked Agammaglobulinemia
Thrombocytopenia, Recurrent cutaneous abscess formation, Neutropenia, Anemia ORPHA:47
Evans Syndrome
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... ORPHA:1959
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Congenital hypoplastic a... OMIM:250250
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Neutropenia OMIM:608809
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus OMIM:606176
Thrombocytopenia-Absent Radius Syndrome
Atrial septal defect, Ventricular septal defect, Leukocytosis, Thrombocytopenia, Anemia, Tetralog... OMIM:274000
Alveolar Echinococcosis
Cutaneous abscess, Abnormal spleen morphology, Abnormal pericardium morphology, Anemia, Liver abs... ORPHA:284
Methylmalonic Aciduria, Cblb Type
Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:251110
Hermansky-Pudlak Syndrome 2
Neutropenia, Ocular albinism, Thrombocytopenia, Reduced natural killer cell count, Absent platele... OMIM:608233
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pigmentary retinopathy, Abnormal heart morphology, Megaloblastic anemia, Neutropenia, Retinal deg... ORPHA:79282
Fanconi Anemia, Complementation Group E
Abnormal heart morphology, Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia... OMIM:600901
Interstitial Pneumonitis, Desquamative, Familial
Tubulointerstitial fibrosis OMIM:263000
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Autoimmune he... OMIM:614700
Autosomal Agammaglobulinemia
Neutropenia ORPHA:33110
Dent Disease
Renal phosphate wasting, Hematuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Focal se... ORPHA:1652
Methylcobalamin Deficiency Type Cble
Pancytopenia, Macrocytic anemia, Neutropenia, Increased mean corpuscular volume ORPHA:2169
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
T lymphocytopenia, Decreased proportion of CD8-positive T cells, Lymphopenia, Decreased proportio... ORPHA:508533
Idiopathic Hypereosinophilic Syndrome
Thrombocytosis, Dilated cardiomyopathy, Leukocytosis, Thrombocytopenia, Anemia, Splenomegaly, Neu... ORPHA:3260
Angiostrongyliasis
Hypereosinophilia ORPHA:74
Scleroderma
Interstitial cardiac fibrosis, Hypereosinophilia, Pericarditis, Myocarditis ORPHA:801
Fanconi Anemia, Complementation Group A
Abnormal heart morphology, Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia... OMIM:227650
Hermansky-Pudlak Syndrome 10
Neutropenia, Ocular albinism, Splenomegaly OMIM:617050
Incontinentia Pigmenti
Abnormal chorioretinal morphology, Retinal hemorrhage, Retinal detachment, Retinal vascular proli... ORPHA:464
Methylmalonic Aciduria, Cbla Type
Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:251100
Methylmalonic Acidemia With Homocystinuria Type Cblf
Megaloblastic anemia, Neutropenia, Abnormal heart morphology ORPHA:79284
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Thrombocytopenia, Neutropenia, Megaloblastic anemia OMIM:277380
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Acute myelomonocytic leukemia, Pancytopenia, Acute myeloid leukemia, Splenomegaly,... ORPHA:86843
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Neutropenia, Pancytopenia, Thrombocytopenia, Acute myeloid leukemia,... OMIM:260400
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Lymphopenia, Decreased proportion of naive CD8 T cells,... ORPHA:1830
Ch├ędiak-Higashi Syndrome
Increased proportion of CD25+ mast cells, Hemophagocytosis, Abnormality of retinal pigmentation, ... ORPHA:167
Igg4-Related Pachymeningitis
Abnormality of the optic nerve, Eosinophilia ORPHA:449427
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Anemia ORPHA:514
Fanconi Anemia, Complementation Group C
Ventricular septal defect, Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia... OMIM:227645
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Reduction of neutrophil motility OMIM:266265
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Hemolytic-uremic syndrome,... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Hemolytic-uremic syndrome,... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Hemolytic-uremic syndrome,... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Hemolytic-uremic syndrome,... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Hemolytic-uremic syndrome,... OMIM:612926
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Cohen Syndrome
Abnormality of retinal pigmentation, Ventricular septal defect, Neutropenia, Mitral valve prolaps... ORPHA:193
Lysinuric Protein Intolerance
Abnormal renal tubule morphology, Renal amyloidosis, Membranous nephropathy, Decreased glomerular... ORPHA:470
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Neutropenia, Thrombocytopenia, Anemia, Splenomegaly ORPHA:540
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... OMIM:615952
Glycogen Storage Disease Ib
Lipemia retinalis, Neutropenia, Hypoglycemia OMIM:232220
Immunodeficiency With Hyper-Igm, Type 1
Thrombocytopenia, Hemolytic anemia, Neutropenia, Splenomegaly OMIM:308230
Fusariosis
Lung abscess, Lymphopenia, Abnormal retinal morphology, Granuloma, Neutropenia, Abnormality of th... ORPHA:228119
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Glucose in... ORPHA:552
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Neutropenia, Hypertrophic cardiomyopathy OMIM:615471
Leigh Syndrome
Ventricular septal defect, Neutropenia, Hypoglycemia, Abnormality of the optic nerve, Anemia, Opt... ORPHA:506
Coccidioidomycosis
Pericarditis, Abnormal retinal morphology, Granuloma, Abnormality of the spleen, Abscess, Eosinop... ORPHA:228123
Bare Lymphocyte Syndrome, Type Ii
Neutropenia OMIM:209920
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Tubulointerstitial fibrosis, Hypernatriuria, Polyuria, Increased urinary potassium, Renal salt wa... OMIM:602522
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Thrombocytopenia, Neutropenia, Pigmentary retinopathy, Megaloblastic anemia OMIM:277400
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Pure red cell aplasia, Thrombo... ORPHA:124
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Bardet-Biedl Syndrome 9
Attenuation of retinal blood vessels, Retinal degeneration, Hyperglycemia, Bone spicule pigmentat... OMIM:615986
Sepsis In Premature Infants
Leukocytosis, Neutropenia, Thrombocytopenia, Anemia, Splenomegaly ORPHA:90051
Trichothiodystrophy
Increased mean corpuscular hemoglobin concentration, Ventricular septal defect, Neutropenia, Reti... ORPHA:33364
Adult-Onset Still Disease
Pericarditis, Leukocytosis, Myocarditis, Splenomegaly, Neutrophilia, Bone marrow hypocellularity ORPHA:829
Hermansky-Pudlak Syndrome
Abnormality of the optic nerve, Neutropenia, Cardiomyopathy, Ocular albinism ORPHA:79430
Shwachman-Diamond Syndrome 2
Thrombocytopenia, Neutropenia, Normocytic anemia OMIM:617941
Whim Syndrome
Lymphopenia, Tetralogy of Fallot, Abnormality of neutrophil morphology, Neutropenia ORPHA:51636
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Iron deficiency anemia, Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T... ORPHA:37042
Pancreatic And Cerebellar Agenesis
Secundum atrial septal defect, Hypoglycemia, Optic nerve hypoplasia, Anemia, Hyperglycemia, Diabe... OMIM:609069
Fanconi Anemia, Complementation Group D2
Abnormal heart morphology, Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia... OMIM:227646
Pearson Syndrome
Pigmentary retinopathy, Abnormal heart morphology, Reticulocytosis, Cardiomyopathy, Neutropenia, ... ORPHA:699
Spondyloenchondrodysplasia With Immune Dysregulation
T lymphocytopenia, Lymphopenia, Neutropenia, Autoimmune thrombocytopenia OMIM:607944
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay
Acute myeloid leukemia, Atrial septal defect, Neutropenia, Anemia OMIM:601347
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Mitral valve prolapse, Ventricular septal defect, Retinal coloboma, Chronic neutropenia, Abnormal... ORPHA:500095
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Brain abscess, Liver abscess, Anemia ORPHA:54251
X-Linked Lymphoproliferative Disease
Increased proportion of CD25+ mast cells, Lymphocytosis, T lymphocytopenia, Hemophagocytosis, Inc... ORPHA:2442
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase level, Thrombocytosis, Atrial septal defect, Ventricular se... OMIM:105650
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Restrictive cardiomyopathy, Myocardial calcification, Left atrial enlar... ORPHA:75565
Purine Nucleoside Phosphorylase Deficiency
Pure red cell aplasia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Neu... OMIM:613179
X-Linked Intellectual Disability, Nascimento Type
Ventricular septal defect, Neutropenia, Double outlet right ventricle, Recurrent cutaneous absces... ORPHA:163956
Psoriasis 14, Pustular
Neutrophilia, Leukocytosis OMIM:614204
Kasabach-Merritt Syndrome
Microangiopathic hemolytic anemia, Reticulocytosis, Neutropenia, Thrombocytopenia, Anemia, Leukop... ORPHA:2330
Cartilage-Hair Hypoplasia
Abnormality of retinal pigmentation, Neutropenia, Anemia, Abnormal cardiac septum morphology, Car... ORPHA:175
Wiskott-Aldrich Syndrome
Hemolytic anemia, Chronic leukemia, Microcytic anemia, Lymphopenia, Neutropenia, Hypoplasia of th... ORPHA:906
Glycogen Storage Disease Iv
Tubulointerstitial fibrosis OMIM:232500
Toxic Epidermal Necrolysis
Thrombocytopenia, Abnormal myocardium morphology, Neutropenia, Anemia ORPHA:537
Igg4-Related Ophthalmic Disease
Abnormality of the optic nerve, Eosinophilia ORPHA:449563
Igg4-Related Submandibular Gland Disease
Eosinophilia ORPHA:449432
Lymphatic Filariasis
Hypereosinophilia ORPHA:2035
Relapsing Fever
Leukocytosis, Thrombocytopenia, Anemia, Leukopenia, Neutrophilia ORPHA:91547
Igg4-Related Kidney Disease
Pericarditis, Eosinophilia ORPHA:449395
Staphylococcal Necrotizing Pneumonia
Neutrophilia, Diabetes mellitus, Leukopenia, Leukocytosis ORPHA:36238
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Increased proportion of CD4-positive T cells, Leukocytosis OMIM:617099
Herpes Simplex Virus Encephalitis
Neutrophilia, Leukocytosis ORPHA:1930
Insulin-Resistance Syndrome Type B
Abnormal oral glucose tolerance, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsuli... ORPHA:2298
Zygomycosis
Endocarditis, Pericarditis, Splenic abscess, Neutropenia, Retinal detachment, Diabetes mellitus, ... ORPHA:73263
Cryptogenic Organizing Pneumonia
Neutrophilia, Leukocytosis ORPHA:1302
Rothmund-Thomson Syndrome
Aplastic anemia, Neutropenia, Anemia, Leukemia ORPHA:2909
Arima Syndrome
Nephronophthisis, Tubulointerstitial fibrosis, Renal tubular atrophy, Renal corticomedullary cyst... OMIM:243910
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Neutropenia in presence of anti-neutropil antibodies, Pancytopenia, Type I diabetes mellitus, Hyp... ORPHA:228426
Kikuchi-Fujimoto Disease
Lymphocytosis, Neutropenia, Thrombocytopenia, Splenomegaly, Anemia, Leukopenia, Myocarditis ORPHA:50918
Rothmund-Thomson Syndrome Type 1
Aplastic anemia, Neutropenia, Anemia, Leukemia ORPHA:221008
Pediatric-Onset Graves Disease
Thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly ORPHA:525731
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Neutropenia in presence of... ORPHA:391487
Hyper-Igd Syndrome
Leukocytosis, Splenomegaly, Neutrophilia, Hepatosplenomegaly, Rod-cone dystrophy, Optic disc pallor OMIM:260920
Rothmund-Thomson Syndrome Type 2
Aplastic anemia, Neutropenia, Anemia, Leukemia ORPHA:221016
Sarcoidosis
Hemolytic anemia, Increased T cell count, Thrombocytopenia, Anemia, Leukopenia, Eosinophilia ORPHA:797
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Neutropenia OMIM:271510
Sweet Syndrome
Dilated cardiomyopathy, Leukocytosis, Chronic lymphatic leukemia, Acute myeloid leukemia, Anemia,... ORPHA:3243
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Chronic neutropenia, Hypoglycemia, Abnormal myeloid leukocyte morphology, ... ORPHA:79259
Selective Igm Deficiency
Cutaneous abscess, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Dec... ORPHA:331235
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Neutrophilia, Abscess, Splenomegaly OMIM:612852
Familial Mediterranean Fever
Neutrophilia, Splenomegaly, Pericarditis, Leukocytosis OMIM:249100
Gapo Syndrome
Tubulointerstitial fibrosis OMIM:230740
Aspartylglucosaminuria
Neutropenia, Vacuolated lymphocytes OMIM:208400
Dermatomyositis
Abnormal eosinophil morphology, Pericarditis, Myocarditis ORPHA:221
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Truncus arteriosus, Atrial septal defect, Ventricular septal defect,... OMIM:600001
Sponastrime Dysplasia
Neutropenia ORPHA:93357
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Neutropenia, Anemia ORPHA:95455
Leukocyte Adhesion Deficiency Type Ii
Neutrophilia, Leukocytosis, Anemia, Microcytic anemia ORPHA:99843
Japanese Encephalitis
Neutrophilia ORPHA:79139

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) Pfkfb2tm1b(KOMP)Wtsi PMC5295821

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

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