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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 lymphocyte cell number	Pfkfb2^{tm1b(KOMP)Wtsi}	HOM	Early adult	4.73×10^-05
increased eosinophil cell number	Pfkfb2^{tm1b(KOMP)Wtsi}	HOM	Early adult	1.09×10^-06
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 fasting circulating glucose level	Pfkfb2^{tm1b(KOMP)Wtsi}	HOM	Early adult	5.65×10^-05
increased basophil cell number	Pfkfb2^{tm1b(KOMP)Wtsi}	HOM	Early adult	1.09×10^-18
thin ventricular wall	Pfkfb2^{tm1b(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.

Human diseases associated with Pfkfb2 (0 diseases)
Human diseases predicted to be associated with Pfkfb2 (369 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	Leukocytosis, Eosinophilia, Thrombocytopenia, Myocardial eosinophilic infiltration, Anemia	OMIM:131400
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	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	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ...	OMIM:202700
Whim Syndrome 2	Tetralogy of Fallot, Chronic neutropenia	OMIM:619407
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Hypereosinophilic Syndrome, Idiopathic	Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Myeloproliferative ...	OMIM:607685
Ichthyosis-Prematurity Syndrome	Eosinophilia	ORPHA:88621
Juvenile Temporal Arteritis	Eosinophilia, Leukocytosis	ORPHA:26137
Cyclic Neutropenia	Cyclic neutropenia	OMIM:162800
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Acute Myelomonocytic Leukemia	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	ORPHA:517
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Immunodeficiency 103, Susceptibility To Fungal Infections	Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p...	OMIM:212050
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Neutropenia	ORPHA:90023
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Neutropenia	OMIM:616022
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia	OMIM:620534
Generalized Eruptive Histiocytosis	Leukemia, Hypereosinophilia, Histiocytosis	ORPHA:157991
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Neutropenia, Chronic Familial	Neutropenia	OMIM:162700
Glutathione Synthetase Deficiency	Pigmentary retinopathy, Hemolytic anemia, Neutropenia	OMIM:266130
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia	OMIM:617585
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,...	OMIM:310468
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Trimethylaminuria	Anemia, Splenomegaly, Neutropenia	OMIM:602079
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Eosinophilopenia	Decreased eosinophil count	OMIM:131430
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Neutropenia, Abnormal T cell morphology	OMIM:615214
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Kimura Disease	Eosinophilia	ORPHA:482
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn...	OMIM:613092
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Neutropenia	OMIM:610798
Loeffler Endocarditis	Aortic valve stenosis, Restrictive cardiomyopathy, Endocardial fibrosis, Abnormal heart valve mor...	ORPHA:75566
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke...	OMIM:619041
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Wolfram Syndrome, Mitochondrial Form	Optic atrophy, Sideroblastic anemia, Megaloblastic anemia, Neutropenia, Thrombocytopenia, Diabete...	OMIM:598500
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Autoimmune thrombo...	OMIM:614470
Fanconi Anemia, Complementation Group G	Leukemia, Anemia, Neutropenia, Thrombocytopenia	OMIM:614082
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia	OMIM:615285
Wells Syndrome	Eosinophilia	ORPHA:901
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp...	OMIM:601859
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti...	ORPHA:169154
Agammaglobulinemia 3, Autosomal Recessive	Absent circulating B cells, Neutropenia, Abnormal T cell morphology	OMIM:613501
Esophagitis, Eosinophilic, 1	Eosinophilia	OMIM:610247
Esophagitis, Eosinophilic, 2	Eosinophilia	OMIM:613412
Immunodeficiency 32B	Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocytopenia, Neutrophil...	OMIM:226990
Agammaglobulinemia 10, Autosomal Dominant	Type I diabetes mellitus, Transient neutropenia, Absent circulating B cells	OMIM:619707
Diamond-Blackfan Anemia 4	Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Atrial septal defect, Neutropenia	OMIM:612527
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume	ORPHA:494444
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Refractory Anemia	Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi...	ORPHA:98826
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom...	OMIM:619802
Cinca Syndrome	Hepatosplenomegaly, Leukocytosis, Eosinophilia, Papilledema, Anemia	OMIM:607115
Nephrotic Syndrome, Type 6	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:614196
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Abnormally low T cell receptor excision circle level, Eosinophilia	OMIM:618092
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Immunodeficiency 11B With Atopic Dermatitis	Eosinophilia	OMIM:617638
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Neutropenia	OMIM:610738
Immunodeficiency 7	Hypereosinophilia, Splenomegaly, Neutropenia, Autoimmune hemolytic anemia	OMIM:615387
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Splenomegaly	OMIM:606445
Specific Granule Deficiency 1	Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,...	OMIM:245480
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Amegakaryocytic Thrombocytopenia, Congenital, 2	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia	OMIM:620481
Joubert Syndrome 35	Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections	OMIM:618161
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Type I diabetes mellitus, Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive ...	OMIM:304790
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a...	OMIM:159550
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu...	ORPHA:486
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp...	OMIM:603909
Roifman Syndrome	Splenomegaly, Ventricular septal defect, Noncompaction cardiomyopathy, Eosinophilia, Retinal dyst...	OMIM:616651
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Pontocerebellar Hypoplasia, Type 15	Anemia, Chronic neutropenia, Thrombocytopenia	OMIM:619302
Agammaglobulinemia 4, Autosomal Recessive	Neutropenia, Abnormal T cell morphology	OMIM:613502
Immunodeficiency 46	Anemia, Neutropenia, Intermittent thrombocytopenia	OMIM:616740
Hemochromatosis, Type 3	Anemia, Lymphopenia, Cardiomyopathy, Neutropenia	OMIM:604250
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Eosinophilia	OMIM:253600
Eosinophilic Fasciitis	Eosinophilia, Abnormal eosinophil morphology	ORPHA:3165
Folate Malabsorption, Hereditary	Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia	OMIM:603552
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Diamond-Blackfan Anemia 8	Neutropenia, Increased mean corpuscular volume, Macrocytic anemia	OMIM:612563
Roifman Syndrome	Noncompaction cardiomyopathy, Eosinophilia, Hepatosplenomegaly, Retinal dystrophy	ORPHA:353298
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy, Absent circulating B cells, Decreased proportion of class-switched m...	OMIM:619705
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Neutropenia, B lymphocytopenia, Intermittent throm...	OMIM:150550
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Eosinophilia	OMIM:618523
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Eosinophilia	OMIM:620532
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Type I diabetes mellitus, Hepatosplenomegaly, Autoimmune hemolytic anemia, Eosinophilia, Neutrope...	OMIM:615952
Immunodeficiency 49	Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc...	OMIM:617237
Idiopathic Aplastic Anemia	Bone marrow hypocellularity, Pancytopenia, Retinal hemorrhage, Reticulocytopenia, Thrombocytopeni...	ORPHA:88
Spinocerebellar Ataxia, Autosomal Recessive 23	Neutropenia	OMIM:616949
Immunodeficiency With Hyper-Igm, Type 3	Neutropenia	OMIM:606843
Adult Idiopathic Neutropenia	Monocytopenia, Lymphopenia, Neutropenia, Monocytosis	ORPHA:2688
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology	ORPHA:724
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He...	OMIM:614817
Peeling Skin Syndrome 1	Eosinophilia	OMIM:270300
Immunodeficiency 25	Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia	OMIM:610163
O'Sullivan-Mcleod Syndrome	Eosinophilia	ORPHA:99965
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp...	OMIM:618849
Nephronophthisis 3	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico...	OMIM:604387
Whim Syndrome 1	Neutropenia	OMIM:193670
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Optic atrophy, Cardiomyopathy, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia	ORPHA:79312
Immunodeficiency 60 And Autoimmunity	Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count, Splenomegaly	OMIM:618394
Retinoschisis 1, X-Linked, Juvenile	Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,...	OMIM:312700
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce...	ORPHA:331206
Nephronophthisis 4	Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia...	OMIM:606966
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Cutaneous abscess, Eosinophilia, Atrial septal defect, Sterile abscess, Pulmonic stenosis	OMIM:618282
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Eosinophilia	ORPHA:169160
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:617243
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic...	ORPHA:98849
Nephronophthisis 1	Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal...	OMIM:256100
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia	OMIM:616738
Lymphoproliferative Syndrome, X-Linked, 1	Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp...	OMIM:308240
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Type I diabetes mellitus, Hemophagocytosis, Agranulocytosis, Autoimm...	OMIM:301078
Eosinophilic Gastroenteritis	Anemia, Eosinophilia, Leukocytosis	ORPHA:2070
Immunodeficiency 67	Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Abnormal natural killer cell...	OMIM:607676
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Anemia, Optic atrophy, Thrombocytopenia, Neutropenia	ORPHA:289916
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilia, Hepatosplenomegaly	OMIM:618999
Omenn Syndrome	Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia, Anemia	ORPHA:39041
Slc35A1-Cdg	Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules	ORPHA:238459
Pgm3-Cdg	Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous...	ORPHA:443811
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Bone marrow hypocellularity, Elliptocytosis, Macrocytic anemia,...	OMIM:300835
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymphocytopenia...	OMIM:603554
Acquired Partial Lipodystrophy	Insulin resistance, Lymphocytosis	ORPHA:79087
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Pancytopen...	OMIM:618986
Disabling Pansclerotic Morphea Of Childhood	Lymphopenia, Neutropenia	OMIM:620443
Maturity-Onset Diabetes Of The Young, Type 10	Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis	OMIM:613370
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Neutropenia	OMIM:618752
Combined Immunodeficiency Due To Zap70 Deficiency	Decreased proportion of CD8-positive T cells, Hepatosplenomegaly, Autoimmune hemolytic anemia, Eo...	ORPHA:911
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Pelger-Huet Anomaly	Giant platelets, Ventricular septal defect, Hyposegmentation of neutrophil nuclei, Thrombocytopen...	OMIM:169400
Acute Generalized Exanthematous Pustulosis	Eosinophilia, Leukocytosis, Neutropenia, Neutrophilia	ORPHA:293173
Neonatal Alloimmune Neutropenia	Maternal diabetes, Neutropenia in presence of anti-neutropil antibodies	ORPHA:464370
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Lymphopenia, Splenomegaly, Aplasia of the t...	OMIM:602450
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Aspergillosis	Eosinophilia, Neutropenia, Vitritis	ORPHA:1163
Microcephalic Primordial Dwarfism, Toriello Type	Neutropenia	ORPHA:2643
Hereditary Folate Malabsorption	Eosinophilia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia	ORPHA:90045
Idiopathic Chronic Eosinophilic Pneumonia	Hypereosinophilia, Leukocytosis	ORPHA:2902
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil ...	OMIM:619220
Developmental And Epileptic Encephalopathy 66	Ventricular septal defect, Atrial septal defect, Dextrocardia, Neutropenia, Anemia	OMIM:618067
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Cardiomyopathy, Hyperglycemia, Type II diabetes mellitus, Retinal degener...	OMIM:520000
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomega...	ORPHA:158057
Immunodeficiency 110 With Lymphoproliferation	Secundum atrial septal defect, Lymphopenia, Autoimmune hemolytic anemia, Patent foramen ovale, Ne...	OMIM:614868
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia, Optic disc pallor, Retinal thinning	OMIM:618970
Immunodeficiency 112	Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched...	OMIM:620449
Ziegler-Huang Syndrome	Bone marrow hypocellularity, Neutropenia, Macrocytic anemia, Persistence of hemoglobin F	OMIM:620501
Cohen Syndrome	Optic atrophy, Leukopenia, Bull's eye maculopathy, Mitral valve prolapse, Chorioretinal dystrophy...	OMIM:216550
Specific Granule Deficiency 2	Anemia, Absent neutrophil specific granules, Thrombocytopenia, Neutropenia	OMIM:617475
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Eosinophilia, Lymphocytosis	ORPHA:139402
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, D...	OMIM:174000
Autoinflammatory Disease, Systemic, X-Linked	Hepatosplenomegaly, Chorioretinitis, Optic neuritis, Neutropenia, B lymphocytopenia	OMIM:301081
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Neutropenia	OMIM:617056
Griscelli Syndrome Type 2	Splenomegaly, Pancytopenia, Hemophagocytosis, Neutropenia	ORPHA:79477
Immunodeficiency 23	Lymphopenia, Abscess, Eosinophilia, Neutropenia, Hemolytic anemia	OMIM:615816
Immunodeficiency 102	Reduced natural killer cell count, Increased proportion of CD8-positive, alpha-beta TEMRA T cells...	OMIM:301082
Senior-Loken Syndrome 1	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Impaired renal concentrati...	OMIM:266900
Propionic Acidemia	Hypoglycemia, Cardiomyopathy, Pancytopenia, Neutropenia, Thrombocytopenia, Anemia	OMIM:606054
Mitochondrial Complex I Deficiency, Nuclear Type 33	Optic atrophy, Neutropenia, Hypoglycemia	OMIM:618253
Neonatal Lupus Erythematosus	Dilated cardiomyopathy, Aplastic anemia, Abnormal heart morphology, Pancytopenia, Splenomegaly, N...	ORPHA:398124
Aggressive Systemic Mastocytosis	Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast...	ORPHA:98850
Aregenerative Anemia	Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A...	ORPHA:101096
Necrotizing Enterocolitis	Abnormal heart morphology, Hyperglycemia, Leukocytosis, Abnormal glucose homeostasis, Thrombocyto...	ORPHA:391673
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hypoglycemia, Cardiomyopathy, Leukopenia, Neutropenia, Thrombocytopenia	OMIM:251000
Congenital Enterovirus Infection	Cardiomyopathy, Leukopenia, Leukocytosis, Abnormal macrophage morphology, Myocarditis, Neutropeni...	ORPHA:292
Congenital Disorder Of Glycosylation, Type Iif	Macrothrombocytopenia, Thrombocytopenia, Neutropenia	OMIM:603585
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology	ORPHA:1164
Autoinflammation With Arthritis And Dyskeratosis	Splenomegaly, Hypereosinophilia, Autoimmune hemolytic anemia	OMIM:617388
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro...	ORPHA:35858
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Eosinophilia, Reduced natural killer cell count, Decreased proportion of CD4-positive helper T ce...	OMIM:243700
Diamond-Blackfan Anemia 11	Bone marrow hypocellularity, Bicuspid aortic valve, Neutropenia, Anemia of inadequate production	OMIM:614900
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Reduced natural killer cell count, Cutaneous abscess, Neutropenia	OMIM:619752
Cyclic Neutropenia	Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos...	ORPHA:2686
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Barth Syndrome	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cyclic neutropenia, Endocardial fibroelastos...	OMIM:302060
Iga Pemphigus	Eosinophilia, Cutaneous abscess	ORPHA:555905
Diabetes Mellitus, Permanent Neonatal, 4	Elevated hemoglobin A1c, Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis	OMIM:618858
Cystic Echinococcosis	Peritoneal abscess, Abnormal heart morphology, Splenic cyst, Abscess, Eosinophilia	ORPHA:400
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis	OMIM:619281
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD4-positive helper T cells, Autoim...	ORPHA:572
Maturity-Onset Diabetes Of The Young, Type 13	Maturity-onset diabetes of the young, Hyperglycemia, Maternal diabetes, Elevated hemoglobin A1c, ...	OMIM:616329
Immunodeficiency, Common Variable, 1	Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Neutr...	OMIM:607594
Igg4-Related Aortitis	Hypereosinophilia	ORPHA:449400
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced red cell adenosine deaminase leve...	OMIM:102700
3-Methylglutaconic Aciduria, Type Viia	Anemia, Neutropenia, Anisopoikilocytosis	OMIM:619835
Netherton Syndrome	Hypereosinophilia	OMIM:256500
Retinitis Pigmentosa And Erythrocytic Microcytosis	Macular edema, Peripheral retinal atrophy, Leukopenia, Epiretinal membrane, Elliptocytosis, Atten...	OMIM:616959
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Thrombocytopenia, Normochromic anemia, Atrial septal defect, Neutropenia	OMIM:614857
3-Methylglutaconic Aciduria Type 7	Bone marrow hypocellularity, Infection associated neutropenia, Cardiomyopathy, Neutropenia, Neona...	ORPHA:445038
Incontinentia Pigmenti	Optic atrophy, Leukocytosis, Hypoplasia of the fovea, Retinal vascular proliferation, Eosinophili...	OMIM:308300
Methylmalonic Aciduria, Cblb Type	Dilated cardiomyopathy, Hypoglycemia, Pancytopenia, Neutropenia, Thrombocytopenia, Anemia	OMIM:251110
Eosinophilic Granulomatosis With Polyangiitis	Hypertrophic cardiomyopathy, Abnormal pericardium morphology, Eosinophilia, Myocarditis, Endocard...	ORPHA:183
Autoimmune Lymphoproliferative Syndrome	Bone marrow hypocellularity, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive hel...	ORPHA:3261
Fanconi Anemia, Complementation Group I	Bone marrow hypocellularity, Patent foramen ovale, Ventricular septal defect, Atrial septal defec...	OMIM:609053
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Lymphopenia, Eosinophilia	OMIM:617425
Diabetes Mellitus, Transient Neonatal, 3	Transient neonatal diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Maternal diabetes	OMIM:610582
Fanconi Renotubular Syndrome 5	Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, Tubulointerstitial fibrosis	OMIM:618913
Chediak-Higashi Syndrome	Hemophagocytosis, Ocular albinism, Leukopenia, Giant neutrophil granules, Splenomegaly, Macular h...	OMIM:214500
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Type I diabetes mellitus, Hypoglycemia, Macrocytic anemia, Eosinophilia	ORPHA:199299
Felty Syndrome	Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Thrombocytopenia, Neut...	ORPHA:47612
Wolcott-Rallison Syndrome	Neonatal insulin-dependent diabetes mellitus, Iron deficiency anemia, Lymphocytosis, Atrial septa...	ORPHA:1667
Dyskeratosis Congenita, Autosomal Dominant 2	Bone marrow hypocellularity, Dilated cardiomyopathy, Aplastic anemia, Pancytopenia, Leukopenia, T...	OMIM:613989
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Megaloblastic anemia, Neutropenia	OMIM:250940
Letterer-Siwe Disease	Anemia, Hepatosplenomegaly, Neutropenia, Thrombocytopenia	OMIM:246400
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Diabetes Mellitus, Permanent Neonatal, 1	Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus, Elevated hemoglobin A1c	OMIM:606176
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Lymphopenia, Leukopenia, Neutropenia, Schistocytosis, Anemia, Thrombocytopenia, Hemolytic anemia	OMIM:301110
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:614520
Alport Syndrome	Thickened glomerular basement membrane, Focal segmental glomerulosclerosis, Glomerular basement m...	ORPHA:63
Diamond-Blackfan Anemia 7	Increased mean corpuscular volume, Secundum atrial septal defect, Tetralogy of Fallot, Macrocytic...	OMIM:612562
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Abnormal optic nerve morphology, Leukocytosis, Splen...	ORPHA:3226
Macrophage Activation Syndrome	Hemophagocytosis, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Abnormal natural killer ce...	ORPHA:158061
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Eosinophilia	ORPHA:2314
Mucopolysaccharidosis-Plus Syndrome	Chorioretinal hypopigmentation, Bone marrow hypocellularity, Optic atrophy, Hypertrophic cardiomy...	OMIM:617303
Mucoepithelial Dysplasia, Hereditary	Cor pulmonale, Eosinophilia	OMIM:158310
Developmental Delay, Hypotonia, And Impaired Language	Neutropenia	OMIM:620012
Acute Promyelocytic Leukemia	Pancytopenia, Leukopenia, Leukocytosis, Neutropenia, Thrombocytopenia, Anemia	ORPHA:520
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Bone marrow hypocellularity, Lymphopenia, Leukopenia, Noncompaction cardiomyopathy, Reticulocytop...	ORPHA:508542
Evans Syndrome	Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop...	ORPHA:1959
Hereditary Renal Hypouricemia	Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, Uric acid urol...	ORPHA:94088
X-Linked Agammaglobulinemia	Anemia, Thrombocytopenia, Recurrent cutaneous abscess formation, Neutropenia	ORPHA:47
Alveolar Echinococcosis	Cutaneous abscess, Abnormal pericardium morphology, Eosinophilia, Abnormal spleen morphology, Ane...	ORPHA:284
Incontinentia Pigmenti	Retinal vascular proliferation, Eosinophilia, Retinal detachment, Retinal hemorrhage, Abnormal ch...	ORPHA:464
Dyskeratosis Congenita, Autosomal Dominant 3	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Leukopenia, Macrocytic anemia, Exudat...	OMIM:613990
Angiostrongyliasis	Hypereosinophilia	ORPHA:74
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young	OMIM:609812
Interstitial Pneumonitis, Desquamative, Familial	Tubulointerstitial fibrosis	OMIM:263000
Bone Marrow Failure Syndrome 3	Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Persistence of h...	OMIM:617052
Immunodeficiency, Common Variable, 8, With Autoimmunity	Type I diabetes mellitus, Pancytopenia, Autoimmune hemolytic anemia, Splenomegaly, Decreased prop...	OMIM:614700
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Neutropenia	ORPHA:2169
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Neutropenia, Atrial septal defect, Hypoglycemia	OMIM:618005
Vici Syndrome	Dilated cardiomyopathy, Hypopigmentation of the fundus, Cardiomyopathy, Ocular albinism, Lymphope...	OMIM:242840
Autosomal Agammaglobulinemia	Neutropenia	ORPHA:33110
Congenital Disorder Of Glycosylation, Type Iic	Reduction of neutrophil motility, Neutrophilia	OMIM:266265
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Neutropenia	OMIM:616395
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased proportion of CD8-positive T cells, Lymphopenia, Hypereosinophilia, Decreased proportio...	ORPHA:508533
Shwachman-Diamond Syndrome	Normocytic anemia, Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volum...	ORPHA:811
Dent Disease	Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri...	ORPHA:1652
Idiopathic Hypereosinophilic Syndrome	Dilated cardiomyopathy, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Eosinophi...	ORPHA:3260
Transcobalamin Ii Deficiency	Pancytopenia, Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Anemia	OMIM:275350
Immunodeficiency 55	Lymphopenia, Absent natural killer cells, Neutropenia	OMIM:617827
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Secundum atrial septal defect, Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Erythro...	OMIM:612541
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Pancytopenia, Megaloblastic anemia, Atrial septal defect, Thrombocytopenia, Neutropenia, Anemia, ...	OMIM:277380
Wiskott-Aldrich Syndrome	Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea...	OMIM:301000
Fanconi Anemia, Complementation Group E	Abnormal heart morphology, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia...	OMIM:600901
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Optic atrophy, Pigmentary retinopathy, Dilated cardiomyopathy, Abnormality of macular pigmentatio...	ORPHA:79282
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Neutropenia, T...	ORPHA:158048
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Enlarged platelet dense granules, Ocular albinism, Hepatosplen...	OMIM:608233
Methylmalonic Acidemia With Homocystinuria Type Cblf	Abnormal heart morphology, Megaloblastic anemia, Neutropenia	ORPHA:79284
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Anemia	ORPHA:514
Mody	Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Glucose ...	ORPHA:552
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Renal cyst, Tu...	OMIM:263200
3-Methylglutaconic Aciduria, Type Viib	Leukopenia, Neonatal hypoglycemia, Thrombocytopenia, Neutropenia	OMIM:616271
Schimke Immuno-Osseous Dysplasia	Bone marrow hypocellularity, Abnormal proportion of naive CD4 T cells, Lymphopenia, Decreased pro...	ORPHA:1830
Fanconi Anemia, Complementation Group A	Abnormal heart morphology, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia...	OMIM:227650
Schimke Immunoosseous Dysplasia	Lymphopenia, Pancytopenia, Abnormal T cell morphology, Thrombocytopenia, Neutropenia, Anemia	OMIM:242900
Lysinuric Protein Intolerance	Renal fibrosis, Hyperlysinuria, Renal amyloidosis, Oroticaciduria, Decreased glomerular filtratio...	ORPHA:470
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Microcytic anemia, Optic atrophy, Neutropenia	OMIM:251900
Shwachman-Diamond Syndrome 1	Myocardial necrosis, Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropen...	OMIM:260400
Hermansky-Pudlak Syndrome 10	Splenomegaly, Neutropenia, Ocular albinism	OMIM:617050
Immunodeficiency 92	Thrombocytosis, Leukocytosis, Lymphocytosis, Decreased proportion of class-switched memory B cell...	OMIM:619652
Igg4-Related Pachymeningitis	Eosinophilia, Abnormal optic nerve morphology	ORPHA:449427
Immunodeficiency 89 And Autoimmunity	Decreased eosinophil count, Hypochromic microcytic anemia	OMIM:619632
Cohen Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Mitral valve prolapse, Ventricular septal def...	ORPHA:193
Familial Hemophagocytic Lymphohistiocytosis	Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia	ORPHA:540
Cartilage-Hair Hypoplasia	Lymphopenia, Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Conge...	OMIM:250250
Chédiak-Higashi Syndrome	Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ...	ORPHA:167
Fanconi Anemia, Complementation Group C	Bone marrow hypocellularity, Pancytopenia, Ventricular septal defect, Anemia, Reticulocytopenia, ...	OMIM:227645
Thrombocytopenia-Absent Radius Syndrome	Tetralogy of Fallot, Atrioventricular canal defect, Hepatosplenomegaly, Leukocytosis, Ventricular...	OMIM:274000
Revesz Syndrome	Bone marrow hypocellularity, Aplastic anemia, Macrocytic anemia, Exudative retinopathy, Neutropenia	OMIM:268130
Fusariosis	Granuloma, Brain abscess, Abnormality of the spleen, Lymphopenia, Lung abscess, Neutropenia, Abno...	ORPHA:228119
Coccidioidomycosis	Granuloma, Abnormality of the spleen, Abscess, Eosinophilia, Abnormal retinal morphology, Pericar...	ORPHA:228123
Agammaglobulinemia 1, Autosomal Recessive	Rectal abscess, Neutropenia, B lymphocytopenia	OMIM:601495
Methylmalonic Aciduria, Cbla Type	Anemia, Pancytopenia, Thrombocytopenia, Neutropenia	OMIM:251100
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Type I diabetes mellitus, Autoimmune hemolytic anemia, Splenomegaly, Optic neuritis, Neutropenia ...	ORPHA:436159
Glycogen Storage Disease Ib	Neutropenia, Lipemia retinalis, Splenomegaly, Hypoglycemia	OMIM:232220
Leigh Syndrome	Optic atrophy, Abnormal optic nerve morphology, Hypoglycemia, Hypertrophic cardiomyopathy, Ventri...	ORPHA:506
Mhc Class Ii Deficiency 1	Neutropenia	OMIM:209920
Poikiloderma With Neutropenia	Leukopenia, Splenomegaly, Neutropenia	OMIM:604173
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin...	ORPHA:124
Kasabach-Merritt Phenomenon	Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Neutropenia, Thrombocytopenia, An...	ORPHA:2330
Immunodeficiency With Hyper-Igm, Type 1	Thrombocytopenia, Hemolytic anemia, Splenomegaly, Neutropenia	OMIM:308230
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Type I diabetes mellitus, Autoimmune hemolytic anemia, Splenomegaly, Iron deficiency anemia, Neut...	ORPHA:37042
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Hypertrophic cardiomyopathy, Neutropenia	OMIM:615471
Pearson Marrow-Pancreas Syndrome	Type I diabetes mellitus, Sideroblastic anemia, Pancytopenia, Refractory sideroblastic anemia, Re...	OMIM:557000
Khan-Khan-Katsanis Syndrome	Pigmentary retinopathy, Lymphopenia, Patent foramen ovale, Neutropenia, Anemia	OMIM:618460
Sepsis In Premature Infants	Leukocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia	ORPHA:90051
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Abnormal urinary electrolyte concentration, Decreased glomerular filtration rate, Re...	ORPHA:85450
Trichothiodystrophy	Macular degeneration, Increased mean corpuscular hemoglobin concentration, Cardiomyopathy, Ventri...	ORPHA:33364
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Chronic leukemia,...	ORPHA:906
Whim Syndrome	Abnormal neutrophil morphology, Lymphopenia, Tetralogy of Fallot, Neutropenia	ORPHA:51636
Hermansky-Pudlak Syndrome	Cardiomyopathy, Abnormal optic nerve morphology, Neutropenia, Ocular albinism	ORPHA:79430
Agammaglobulinemia, X-Linked	Cor pulmonale, Neutropenia, B lymphocytopenia, Anemia, T lymphocytopenia	OMIM:300755
Saul-Wilson Syndrome	Neutropenia	OMIM:618150
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphopenia, Autoimmune thrombocytopenia, Neutropenia, T lymphocytopenia	OMIM:607944
Shwachman-Diamond Syndrome 2	Normocytic anemia, Thrombocytopenia, Neutropenia	OMIM:617941
Pearson Syndrome	Bone marrow hypocellularity, Pigmentary retinopathy, Glycosuria, Cardiomyopathy, Abnormal heart m...	ORPHA:699
Fanconi Anemia, Complementation Group D2	Bone marrow hypocellularity, Abnormal heart morphology, Pancytopenia, Anemia, Reticulocytopenia, ...	OMIM:227646
Relapsing Fever	Leukopenia, Leukocytosis, Thrombocytopenia, Neutrophilia, Anemia	ORPHA:91547
Lymphatic Filariasis	Hypereosinophilia	ORPHA:2035
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Reduced renal corticomedu...	OMIM:602522
X-Linked Intellectual Disability, Nascimento Type	Tetralogy of Fallot, Mitral stenosis, Patent foramen ovale, Ventricular septal defect, Double out...	ORPHA:163956
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:105650
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Thrombocytopenia, Monocytosis	OMIM:619644
Staphylococcal Necrotizing Pneumonia	Leukopenia, Diabetes mellitus, Leukocytosis, Neutrophilia	ORPHA:36238
Thauvin-Robinet-Faivre Syndrome	Transient neutropenia, Retinal coloboma, Mitral valve prolapse, Ventricular septal defect	OMIM:617107
Cartilage-Hair Hypoplasia	Cardiomyopathy, Abnormality of retinal pigmentation, Abnormal cardiac septum morphology, Neutrope...	ORPHA:175
Zygomycosis	Brain abscess, Retinal arterial occlusion, Retinal detachment, Splenic abscess, Neutropenia, Myoc...	ORPHA:73263
Toxic Epidermal Necrolysis	Anemia, Thrombocytopenia, Abnormal myocardium morphology, Neutropenia	ORPHA:537
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia	ORPHA:1302
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Anemia, Brain abscess, Liver abscess, Neutrophilia	ORPHA:54251
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Abnormal right ventricle morphology, Retinal coloboma, Transient neutropenia, Mitral valve prolap...	ORPHA:500095
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia	OMIM:614204
Igg4-Related Submandibular Gland Disease	Eosinophilia	ORPHA:449432
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Thrombocytopenia, Megaloblastic anemia, Pigmentary retinopathy, Neutropenia	OMIM:277400
Diffuse Cutaneous Mastocytosis	Abnormality of the spleen, Myeloproliferative disorder, Lymphocytosis	ORPHA:79456
Tropical Endomyocardial Fibrosis	Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Right ventricular car...	ORPHA:75565
Glycogen Storage Disease Iv	Tubulointerstitial fibrosis	OMIM:232500
Igg4-Related Ophthalmic Disease	Eosinophilia, Abnormal optic nerve morphology	ORPHA:449563
Herpes Simplex Virus Encephalitis	Leukocytosis, Neutrophilia	ORPHA:1930
Purine Nucleoside Phosphorylase Deficiency	Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil...	OMIM:613179
Igg4-Related Kidney Disease	Eosinophilia, Pericarditis	ORPHA:449395
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased proportion of CD4-positive T cells, Leukocytosis, Neutrophilia	OMIM:617099
Insulin-Resistance Syndrome Type B	Postprandial hyperglycemia, Insulin resistance, Glycosuria, Insulin-resistant diabetes mellitus, ...	ORPHA:2298
Cushing Disease	Lymphopenia, Optic nerve compression, Leukocytosis, Decreased eosinophil count, Diabetes mellitus...	ORPHA:96253
Kikuchi-Fujimoto Disease	Leukopenia, Splenomegaly, Myocarditis, Lymphocytosis, Neutropenia, Thrombocytopenia, Anemia	ORPHA:50918
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Type I diabetes mellitus, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Neutropenia in presenc...	ORPHA:228426
Sarcoidosis	Leukopenia, Increased T cell count, Eosinophilia, Thrombocytopenia, Anemia, Hemolytic anemia	ORPHA:797
Arima Syndrome	Nephronophthisis, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, Proteinuria, R...	OMIM:243910
Glycogen Storage Disease Ic	Cyclic neutropenia, Hypoglycemia	OMIM:232240
Viss Syndrome	Coronary sinus enlargement, Hypereosinophilia, Right ventricular hypertrophy, Mitral valve prolap...	OMIM:619472
Adult-Onset Still Disease	Neutrophilia, Bone marrow hypocellularity, Leukocytosis, Splenomegaly, Myocarditis, Anemia, Peric...	ORPHA:829
3-Methylglutaconic Aciduria, Type Viii	Neonatal hypoglycemia, Neutropenia	OMIM:617248
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron...	OMIM:301074
Intellectual Developmental Disorder, Autosomal Dominant 54	Neutropenia	OMIM:617799
Rothmund-Thomson Syndrome	Leukemia, Anemia, Aplastic anemia, Neutropenia	ORPHA:2909
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Eosinophilia, Cutaneous abscess, Recurrent cutaneous abscess formation	OMIM:147060
Pediatric-Onset Graves Disease	Thrombocytopenia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies	ORPHA:525731
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Type I diabetes mellitus, Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, Patent fo...	ORPHA:391487
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypoglycemia, Anemia, Hypoglycemic seizures, Abnormal myeloid leukocyte morphology, Chronic neutr...	ORPHA:79259
Hyper-Igd Syndrome	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Rod-cone dystrophy, Neutrophilia, Optic disc pallor	OMIM:260920
Rothmund-Thomson Syndrome Type 1	Leukemia, Anemia, Aplastic anemia, Neutropenia	ORPHA:221008
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Neutropenia	OMIM:271510
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
Sweet Syndrome	Dilated cardiomyopathy, Leukocytosis, Chronic lymphatic leukemia, Acute myeloid leukemia, Sterile...	ORPHA:3243
Rothmund-Thomson Syndrome Type 2	Leukemia, Anemia, Aplastic anemia, Neutropenia	ORPHA:221016
Selective Igm Deficiency	Decreased proportion of transitional B cells, Cutaneous abscess, Decreased proportion of CD8-posi...	ORPHA:331235
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Neutrophilia, Leukocytosis, Autoimmune hemolytic anemia, Splenomegaly, Monocytosis, Autoimmune th...	OMIM:620565
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Splenomegaly, Abscess, Neutrophilia	OMIM:612852
Down Syndrome	Secundum atrial septal defect, Polycythemia, Tetralogy of Fallot, Atrioventricular canal defect, ...	ORPHA:870
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Lymphocytosis, Thrombocytopenia	OMIM:617718
Familial Mediterranean Fever	Leukocytosis, Splenomegaly, Pericarditis, Neutrophilia	OMIM:249100
Cushing Syndrome Due To Ectopic Acth Secretion	Lymphopenia, Leukocytosis, Decreased eosinophil count, Diabetes mellitus, Impaired glucose tolerance	ORPHA:99889
Aspartylglucosaminuria	Vacuolated lymphocytes, Neutropenia	OMIM:208400
Gapo Syndrome	Tubulointerstitial fibrosis	OMIM:230740
Liver Disease, Severe Congenital	Dilatation of the ventricular cavity, Leukopenia, Splenomegaly, Patent foramen ovale, Ventricular...	OMIM:619991
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anemia, Neutropenia	ORPHA:95455
Sponastrime Dysplasia	Neutropenia	ORPHA:93357
Dermatomyositis	Myocarditis, Abnormal eosinophil morphology, Pericarditis	ORPHA:221

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

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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

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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