Gene Summary

Name:
synaptopodin 2
Synonyms:
2310068J10Rik,  9530006G20Rik,  myopodin,  1110069I04Rik,  Myo

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
decreased hemoglobin content Synpo2tm1b(EUCOMM)Wtsi HET Early adult 3.71×10-06
decreased hematocrit Synpo2tm1b(EUCOMM)Wtsi HET Early adult 4.30×10-05
decreased lymphocyte cell number Synpo2tm1b(EUCOMM)Wtsi HET Early adult 5.34×10-09
prolonged PR interval Synpo2tm1b(EUCOMM)Wtsi HET   Early adult 6.97×10-05
decreased leukocyte cell number Synpo2tm1b(EUCOMM)Wtsi HET   Early adult 2.05×10-05
preweaning lethality, complete penetrance Synpo2tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
increased neutrophil cell number Synpo2tm1b(EUCOMM)Wtsi HET Early adult 4.19×10-09
decreased erythrocyte cell number Synpo2tm1b(EUCOMM)Wtsi HET Early adult 2.84×10-05

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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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Synpo2 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 Synpo2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 40
Lymphopenia OMIM:616433
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Immunodeficiency 8
Lymphopenia OMIM:615401
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Brugada Syndrome 2
Syncope, Right bundle branch block, First degree atrioventricular block, Ventricular fibrillation... OMIM:611777
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Myelolymphatic Insufficiency
Hyposegmentation of neutrophil nuclei, Leukopenia OMIM:310350
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... OMIM:603902
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Sideroblastic anemia OMIM:182170
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Immunodeficiency 19
Lymphopenia OMIM:615617
Polycythemia Vera
Cerebral hemorrhage, Thrombocytosis, Leukocytosis, Increased red blood cell mass, Budd-Chiari syn... OMIM:263300
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia OMIM:167850
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Atrial Fibrillation, Familial, 7
Palpitations, Paroxysmal atrial fibrillation, Prolonged QTc interval, Prolonged PR interval OMIM:612240
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Trimethylaminuria
Hypertension, Neutropenia, Anemia, Tachycardia, Splenomegaly OMIM:602079
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation OMIM:615378
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thrombocytopenia OMIM:615285
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Neutropenia, Lymphopenia OMIM:614868
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Congenital agranulocytosis, Leukopenia OMIM:267500
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Immunodeficiency 24
Decreased CD4:CD8 ratio, Reduced proportion of mucosal-associated invariant T cells, Lymphopenia,... OMIM:615897
Erythrocytosis, Familial, 4
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:611783
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Lymphopenia OMIM:247630
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia OMIM:247800
Acute Erythroid Leukemia
Pancytopenia, Anemia, Leukopenia, Erythroid hypoplasia ORPHA:318
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... OMIM:202700
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Refractory Anemia
Abnormal cardiac ventricular function, Macrocytic anemia, Normocytic anemia, Neutropenia, Normoch... ORPHA:98826
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Hypertension, Increased red blood cell mass, Splenomegaly, Myocardial infarc... OMIM:133100
Cernunnos-Xlf Deficiency
B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia ORPHA:169079
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Absent neutrophil specific granules, Increased neutrophil mitochon... OMIM:245480
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia OMIM:615214
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic anemia, Autoimmune hemolytic an... ORPHA:444463
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... OMIM:619041
Thrombocytopenia 5
Anemia, Thrombocytopenia, Epistaxis, Neutropenia OMIM:616216
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Atrial Septal Defect, Ostium Primum Type
Syncope, Abnormal P wave, Atrial fibrillation, Mitral regurgitation, Systolic heart murmur, Palpi... ORPHA:99106
Alpha-Thalassemia
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia ORPHA:846
Immunodeficiency 21
Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... OMIM:614172
Fanconi Anemia, Complementation Group G
Leukemia, Thrombocytopenia, Neutropenia, Anemia OMIM:614082
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Progressive Familial Heart Block, Type Ia
Syncope, Complete heart block with broad QRS complexes, Left anterior fascicular block, Right bun... OMIM:113900
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Bradycardia, Prolonged PR interval, Sick sinus syndrome, Arrhythmia ORPHA:542306
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Diamond-Blackfan Anemia 4
Macrocytic anemia, Neutropenia, Reticulocytopenia, Erythroid hypoplasia OMIM:612527
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... ORPHA:75564
Long Qt Syndrome 10
T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Sudden card... OMIM:611819
Neonatal Lupus Erythematosus
Hemolytic anemia, Dilated cardiomyopathy, Neutropenia, Prolonged QT interval, Atrioventricular bl... ORPHA:398124
Sebastian syndrome
Neutrophil inclusion bodies, Epistaxis, Leukocyte inclusion bodies, Giant platelets, Thrombocytop... OMIM:605249
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Progressive Familial Heart Block, Type Ib
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... OMIM:604559
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Increased red blood cell mass, Increased hematocrit, Hypotension, Increased ... OMIM:263400
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Immunodeficiency 52
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Splenomegaly, Auto... OMIM:617514
Brugada Syndrome
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... ORPHA:130
Wolff-Parkinson-White Syndrome
Syncope, Ventricular preexcitation, Palpitations, Ventricular preexcitation with multiple accesso... OMIM:194200
Long Qt Syndrome 13
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... OMIM:613485
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Thrombocytosis, Macrocytic anemia, Leukopenia, Erythroid hypoplasia, Acute myeloid leukemia, Anis... ORPHA:86841
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... OMIM:604772
Cardiomyopathy, Dilated, 1E
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... OMIM:601154
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Prolonged PR interval, Atrial fibrillation OMIM:108900
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Atrial Standstill 1
Atrial standstill, Ventricular escape rhythm, Atrial cardiomyopathy, First degree atrioventricula... OMIM:108770
Primary Familial Polycythemia
Polycythemia, Epistaxis, Abnormal hemoglobin ORPHA:90042
Glutamate Formiminotransferase Deficiency
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei OMIM:229100
Transcobalamin Deficiency
Pancytopenia, Thrombocytopenia, Neutropenia, Lymphopenia ORPHA:859
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Refractory anemia, Acute myeloid leukemia, Leukopenia, Monocytosis OMIM:616871
Diamond-Blackfan Anemia 5
Macrocytic anemia, Reticulocytopenia, Leukopenia, Erythroid hypoplasia OMIM:612528
Ras-Associated Autoimmune Leukoproliferative Disorder
Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymphocytosis, Pan... OMIM:614470
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Sick Sinus Syndrome 4
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... OMIM:619464
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Immunodeficiency 76
B lymphocytopenia, T lymphocytopenia, Lymphopenia, Splenomegaly OMIM:619164
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia OMIM:613501
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Hb Bart'S Hydrops Fetalis
Pericarditis, Anemia, Abnormal hemoglobin, Splenomegaly, Congestive heart failure ORPHA:163596
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto... OMIM:159550
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... OMIM:604145
Hemochromatosis, Type 3
Anemia, Cardiomyopathy, Neutropenia, Lymphopenia OMIM:604250
Diamond-Blackfan Anemia 8
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612563
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production OMIM:603529
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Progressive Familial Heart Block, Type Ii
Syncope, Sinus bradycardia, Atrioventricular block, Complete heart block with narrow QRS complexe... OMIM:140400
Long Qt Syndrome 14
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... OMIM:616247
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Macrocytic anemia, Megaloblastic anemia, Lymphopenia, Pancytopenia, Anemia of ina... OMIM:617780
Beta-Thalassemia
Hypertrophic cardiomyopathy, Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Thromb... ORPHA:848
Immunodeficiency 46
Anemia, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Neutrophil inclusion bodies, Epistaxis, Leukocyte inclusion bodies, Myocardial infarction, Giant ... OMIM:155100
Congenital Heart Defects, Multiple Types, 3
Atrial fibrillation, Atrioventricular dissociation, Atrioventricular block, Tachycardia, Right bu... OMIM:614954
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia, Arrhythmia OMIM:616949
Immunodeficiency 13
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD... OMIM:615518
Sick Sinus Syndrome 1
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... OMIM:608567
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Idiopathic Aplastic Anemia
Neutropenia, Epistaxis, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Retinal hemorr... ORPHA:88
Diamond-Blackfan Anemia 12
Macrocytic anemia, Normochromic anemia, Elevated red cell adenosine deaminase level, Reticulocyto... OMIM:615550
Gitelman Syndrome
Prominent U wave, Syncope, Abnormal T-wave, Prolonged QT interval, Iron deficiency anemia, ST seg... ORPHA:358
Autoinflammatory Syndrome, Familial, Behcet-Like
Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
Hemophagocytic Lymphohistiocytosis, Familial, 4
Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis OMIM:603552
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Atrial fibrillati... OMIM:115200
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... ORPHA:231154
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Pericardial Effusion, Chronic
Polycythemia, Constrictive pericarditis OMIM:260900
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Neutrophilia OMIM:619281
Tempi Syndrome
Polycythemia, Telangiectasia, Intracranial hemorrhage, Increased hematocrit ORPHA:284227
Long Qt Syndrome 16
T-wave alternans, Prolonged QTc interval, Bradycardia, Second degree atrioventricular block OMIM:618782
Wolfram Syndrome, Mitochondrial Form
Thrombocytopenia, Megaloblastic anemia, Neutropenia, Sideroblastic anemia OMIM:598500
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Leukopenia OMIM:614171
Atrial Standstill
Syncope, Abnormal P wave, Atrial standstill, Reduced ejection fraction, Ventricular escape rhythm... ORPHA:1344
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Neutropenia, Congenital thrombocytopenia OMIM:616738
Atrial Septal Defect, Sinus Venosus Type
Left-to-right shunt, Atrial fibrillation, Systolic heart murmur, Cardiac conduction abnormality, ... ORPHA:99105
Slc35A1-Cdg
Neutropenia, Pulmonary hemorrhage, Abnormal platelet granules, Giant platelets, Thrombocytopenia ORPHA:238459
Familial Short Qt Syndrome
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... ORPHA:51083
Cardiomyopathy, Familial Hypertrophic, 6
Hypertrophic cardiomyopathy, Sinus bradycardia, Atrial fibrillation, Ventricular preexcitation, A... OMIM:600858
Agammaglobulinemia 4, Autosomal Recessive
Neutropenia OMIM:613502
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Pulmonary insufficiency, B lymphocytopenia, T lymphocytopenia, Lymphopenia ORPHA:277
Erythrocytosis, Familial, 8
Normocytic anemia, Polycythemia, Normochromic anemia, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:222800
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Thrombocytopenia, Leukopenia OMIM:231095
Adult Idiopathic Neutropenia
Monocytopenia, Neutropenia, Lymphopenia, Monocytosis ORPHA:2688
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Atrial fibrillation, Atrioventricular block, Supraventricular tachycardia... OMIM:612158
Folate Malabsorption, Hereditary
Thrombocytopenia, Neutropenia, Leukopenia, Folate-responsive megaloblastic anemia OMIM:229050
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Abscess, Intermittent thrombocytopenia, S... OMIM:150550
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Bone Marrow Failure Syndrome 4
Thrombocytopenia, Anemia, Leukopenia OMIM:618116
Immunodeficiency 31C
Lymphopenia, Autoimmune hemolytic anemia OMIM:614162
Imerslund-Gräsbeck Syndrome
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... ORPHA:35858
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Dohle Bodies And Leukemia
Acute myeloid leukemia, Anemia, Leukocyte inclusion bodies OMIM:223350
Acquired Methemoglobinemia
Syncope, Palpitations, Methemoglobinemia, Tachycardia, Arrhythmia ORPHA:464453
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphocytosis, Aut... ORPHA:169154
Systemic Lupus Erythematosus
Thrombocytopenia, Hemolytic anemia, Pericarditis, Leukopenia OMIM:152700
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Neutropenia, Leukopenia, Abnormally low T cell receptor excision circle level,... OMIM:618986
Noonan Syndrome 12
Supravalvular aortic stenosis, Thrombocytopenia, Lymphopenia OMIM:618624
Atrial Tachyarrhythmia With Short Pr Interval
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Sho... OMIM:108950
Relapsing Fever
Leukocytosis, Leukopenia, Epistaxis, Anemia, Tachycardia, Neutrophilia, Thrombocytopenia, Hypoten... ORPHA:91547
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Myopathy, Myofibrillar, 1
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Restric... OMIM:601419
Isovaleric Acidemia
Pancytopenia, Thrombocytopenia, Leukopenia, Cerebellar hemorrhage OMIM:243500
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Poikilocytosis, Heinz body anemia, Nonspherocytic hemolytic anemia, Elliptocytosis OMIM:141700
Megaloblastic Anemia, Folate-Responsive
Episodic hemolytic anemia, Hypersegmentation of neutrophil nuclei, Schistocytosis, Folate-respons... OMIM:601775
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Reduced ejection fraction, Angina pectoris, Restrictive cardiomyopat... ORPHA:85451
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Sudden cardiac death, Atrioventricular block, Atrial arrhythmia OMIM:310300
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neutropenia, Leukopenia, Monocytosis, Mitral regurgitation, Hypoplasia of the thymus, Pulmonary a... OMIM:612541
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Intracranial hemorrhage, Acute leukemia, Splenomegaly, Myeloproliferative disorder,... ORPHA:3226
Tropical Endomyocardial Fibrosis
Splenomegaly, Abnormal EKG, Eosinophilia, Abnormal P wave, Reduced ejection fraction, Mitral regu... ORPHA:75565
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Splenomegaly, Lymphocytosis, Vasculitis, Pancytopenia, Thrombocytopenia, Aplastic an... OMIM:308240
Lymphangiectasia, Intestinal
Lymphopenia OMIM:152800
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Syncope, Normocytic anemia, Normochromic anemia, Chroni... ORPHA:98849
Retinal Venous Beading
Retinal neovascularization, Vitreous hemorrhage, Neutropenia OMIM:180080
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Desminopathy
Concentric hypertrophic cardiomyopathy, Atrioventricular block, Congestive heart failure, Sudden ... ORPHA:98909
Diamond-Blackfan Anemia 6
Macrocytic anemia, Increased mean corpuscular volume, Mitral regurgitation, Persistence of hemogl... OMIM:612561
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Neutropenia OMIM:617056
Beta-Thalassemia Intermedia
Leukocytosis, Erythroid hyperplasia, Pulmonary arterial hypertension, Persistence of hemoglobin F... ORPHA:231222
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Anemia, Liver abscess ORPHA:54251
Steinert Myotonic Dystrophy
Dilated cardiomyopathy, Atrial fibrillation, Cardiac conduction abnormality, Supraventricular tac... ORPHA:273
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Syncope, Atrioventricular block, Left bundle branch block, Transient... OMIM:115197
Aregenerative Anemia
Neutropenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Decreased proport... ORPHA:101096
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Abnormal... ORPHA:331206
Attrv30M Amyloidosis
Atrioventricular block, Arrhythmia, Cardiomyopathy ORPHA:85447
Immunodeficiency 85 And Autoimmunity
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Lymphopen... OMIM:619510
Kearns-Sayre Syndrome
Cardiomyopathy, Third degree atrioventricular block, Arrhythmia, Sideroblastic anemia OMIM:530000
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Anemia, Abnormal mast cell morphology, Hep... ORPHA:98850
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Autosomal Dominant Severe Congenital Neutropenia
Acute lymphoblastic leukemia, Neutropenia, Monocytosis, Leukemia, Acute myeloid leukemia, Lymphop... ORPHA:486
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Pyropoikilocytosis, Microspherocytosis, Elliptocytosis OMIM:266140
Macrocephaly/Autism Syndrome
Lymphopenia, Splenomegaly OMIM:605309
Immunodeficiency 67
Transient neutropenia, Liver abscess OMIM:607676
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Shock, Neutropenia OMIM:600351
Immunodeficiency 36
Chronic lymphatic leukemia, Lymphopenia, Splenomegaly OMIM:616005
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Hypertension, Neutropenia, Anemia, Cerebral ischemia, Transient ische... OMIM:242900
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
B lymphocytopenia, Neutropenia, Noncompaction cardiomyopathy, Leukopenia, Anemia, Tricuspid regur... ORPHA:508542
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia ORPHA:1116
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Decreased proportion of CD3-positive T cells, Autoimmune thrombocytop... ORPHA:760
Letterer-Siwe Disease
Anemia, Thrombocytopenia, Hepatosplenomegaly, Neutropenia OMIM:246400
Icf Syndrome
Abnormality of neutrophils, Anemia, Lymphopenia ORPHA:2268
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Hypochromic microcytic anemia, Persistence of hemoglobin F, Splenomegaly,... ORPHA:231226
Kearns-Sayre Syndrome
Third degree atrioventricular block ORPHA:480
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Abscess, Splenomegaly, Perianal abscess, Hepatosplenomegaly, Impaired oxidative burst, Lymphopeni... OMIM:618935
Immunodeficiency 91 And Hyperinflammation
Monocytosis, Pulmonary hemorrhage, Neutrophilia, Hepatosplenomegaly, Thrombocytopenia, Hemophagoc... OMIM:619644
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Pure red cell aplasia, Splenomegaly, Cerebr... OMIM:613179
Beta-Thalassemia Major
Dilated cardiomyopathy, Anisopoikilocytosis, Hypochromic microcytic anemia, Splenomegaly, Persist... ORPHA:231214
Cyclic Neutropenia
Perianal abscess, Lymphopenia, Cyclic neutropenia, Thrombocytopenia, Tooth abscess, Decreased eos... ORPHA:2686
Immunodeficiency 49
Eosinophilia, Lymphopenia OMIM:617237
Shwachman-Diamond Syndrome 1
Neutropenia, Anemia, Persistence of hemoglobin F, Acute myeloid leukemia, Pancytopenia, Thrombocy... OMIM:260400
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Reduced red cell adenosine deaminase level, Splenomegaly, Aplasia of the thymu... OMIM:102700
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Hepatosplenomegaly, Aplasia of the thymus, Lymphopenia OMIM:242700
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Neutropenia, Coombs-positive hemolytic anemia, Anemia, Autoimmune thrombocytopenia, Thrombocytope... OMIM:304790
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Splenomegaly OMIM:616100
Transcobalamin Ii Deficiency
Pancytopenia, Macrocytic anemia, Neutropenia, Reticulocytopenia OMIM:275350
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Eosinophilia, Lymphopenia ORPHA:169160
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... ORPHA:443811
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Syncope, Left-to-right shunt, Atrial fibrillation, Mitral regurgitatio... ORPHA:99103
Complete Atrioventricular Septal Defect
Right ventricular failure, Left-to-right shunt, Abnormal P wave, Systolic heart murmur, Atriovent... ORPHA:1329
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type
Atrioventricular block, Abnormal atrioventricular conduction OMIM:118230
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Shortened PR interval, Splenomegaly OMIM:232300
Ataxia-Telangiectasia
Mucosal telangiectasiae, Telangiectasia of the skin, Lymphopenia ORPHA:100
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Vasculitis, Neutrophilia, Increased proportion of CD4-positive T cells OMIM:617099
Cartilage-Hair Hypoplasia
Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Neutropenia, Conge... OMIM:250250
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Telangiectasia, Leukopenia, Anemia, Raynaud phenomenon, Lymphopenia OMIM:615934
Ebola Hemorrhagic Fever
Leukopenia, Melena, Gastrointestinal hemorrhage, Lymphopenia, Thrombocytopenia ORPHA:319218
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia OMIM:614204
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent natural killer cells, Impaired lymphocyte transformation with phytohemagglutinin, T lympho... OMIM:600802
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Palpitations, Syncope, Sinus bradycardia, Atrioventricular block OMIM:616812
Staphylococcal Necrotizing Pneumonia
Shock, Leukocytosis, Leukopenia, Neutrophilia, Hypotension ORPHA:36238
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Ventricular tachycardia, Atrioventricular block, Cardiomyopath... OMIM:212138
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Decreased proportion of CD3-positive T cells, Reduced natu... ORPHA:276
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Adult-Onset Still Disease
Myocarditis, Leukocytosis, Pericarditis, Splenomegaly, Neutrophilia ORPHA:829
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Orthostatic hypotension, Atrioventricular block, Abnormal atrioventricular conduction OMIM:118301
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas... OMIM:600903
Duodenal Neuroendocrine Tumor
Right ventricular failure, Tricuspid stenosis, Iron deficiency anemia, Palpitations, Melena, Pulm... ORPHA:100076
Gaisböck Syndrome
Hypertension, Elevated diastolic blood pressure, Increased red blood cell count, Myocardial infar... ORPHA:90041
Glycogen Storage Disease Of Heart, Lethal Congenital
Bradycardia, Cardiomyopathy, Congestive heart failure, Shortened PR interval, Hypotension OMIM:261740
Blackfan-Diamond Anemia
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... ORPHA:124
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... OMIM:301000
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Bradycardia OMIM:614407
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Hypertension, Neutropenia, Pulmonary arterial hyperten... ORPHA:1830
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus, Third degree atrioventricular block, Bradycardia ORPHA:40366
Histiocytoid Cardiomyopathy
Atrial fibrillation, Ventricular tachycardia, Atrioventricular block, Supraventricular tachycardi... ORPHA:137675
Wiskott-Aldrich Syndrome
Internal hemorrhage, Intracranial hemorrhage, Neutropenia, Acute leukemia, Hypoplasia of the thym... ORPHA:906
Onychotrichodysplasia And Neutropenia
Chronic neutropenia, Lymphocytosis, Neutropenia OMIM:258360
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia ORPHA:1302
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Syncope, Paroxysmal atrial fibrillation, Reduced ejection ... ORPHA:1677
Thymoma
Leukemia, Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia ORPHA:99867
Sweet Syndrome
Dilated cardiomyopathy, Leukocytosis, Chronic lymphatic leukemia, Sterile abscess, Anemia, Acute ... ORPHA:3243
Herpes Simplex Virus Encephalitis
Leukocytosis, Neutrophilia ORPHA:1930
Proteasome-Associated Autoinflammatory Syndrome 3
Thrombocytopenia, Anemia, Lymphopenia, Splenomegaly OMIM:617591
Myotonic Dystrophy 1
First degree atrioventricular block, Atrial flutter, Atrial fibrillation OMIM:160900
Dyskeratosis Congenita, Autosomal Dominant 1
Thrombocytopenia, Aplastic anemia, Anemia, Lymphopenia OMIM:127550
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Atrioventricular ... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Atrioventricular ... ORPHA:261
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Ventricular escape rhythm, Atrioventricular block, Sudden cardiac death, ... ORPHA:98855
Immunodeficiency 23
Neutropenia, Abscess, Vasculitis in the skin, Lymphopenia, Eosinophilia, Hemolytic anemia OMIM:615816
Kasabach-Merritt Syndrome
Neutropenia, Leukopenia, Microangiopathic hemolytic anemia, Anemia, Reticulocytosis, Thrombocytop... ORPHA:2330
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Hypertension, Third degree atrioventricular block, Pulmonary arterial hyp... OMIM:619573
Lyme Disease
Atrioventricular block, Arrhythmia ORPHA:91546
Mirage Syndrome
Intracranial hemorrhage, Leukopenia, Anemia, Lymphopenia, Thrombocytopenia, Hypoplastic spleen OMIM:617053
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia ORPHA:391307
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertrophic cardiomyopathy, Ventricular escape rhythm, Atrioventricular block, Sudden cardiac de... ORPHA:98863
Pediatric Systemic Lupus Erythematosus
Leukopenia, Microangiopathic hemolytic anemia, Raynaud phenomenon, Lymphopenia, Thrombocytopenia ORPHA:93552
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:141750
Common Variable Immunodeficiency
Splenomegaly, Autoimmune thrombocytopenia, Vasculitis, Lymphopenia, Hemolytic anemia ORPHA:1572
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Anemia, Lymphopenia ORPHA:935
Holt-Oram Syndrome
First degree atrioventricular block, Atrioventricular block, Paroxysmal atrial fibrillation ORPHA:392
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Absent natural kil... ORPHA:35078
Fabry Disease
Hypertrophic cardiomyopathy, Hypertension, Mitral regurgitation, Atrioventricular block, Conjunct... ORPHA:324
Primary Intestinal Lymphangiectasia
Reduced proportion of CD4+ effector memory T cells, Decreased proportion of CD3-positive T cells,... ORPHA:90362
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, T... ORPHA:26793
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Dilated cardiomyopathy, Leukocytosis, Thrombocytosis, Hypertension, Leukopenia, Anemia, Raynaud p... OMIM:615688
Legionnaires Disease
Myocarditis, Pericarditis, Splenomegaly, Lymphopenia, Arrhythmia, Hypotension ORPHA:549
Autoimmune Lymphoproliferative Syndrome
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... ORPHA:3261
Avian Influenza
Congestive heart failure, Thrombocytopenia, Lymphopenia, Leukopenia ORPHA:454836
Lead Poisoning
Abnormal T cell morphology, Hypertension, Imbalanced hemoglobin synthesis, Anemia ORPHA:330015
Nephrotic Syndrome, Type 14
Lymphopenia OMIM:617575
Popov-Chang syndrome
Hypertension, Lymphopenia, Pulmonic stenosis OMIM:618428
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Congenitally Corrected Transposition Of The Great Arteries
Third degree atrioventricular block, Cardiac conduction abnormality, Abnormal atrioventricular co... ORPHA:216694
Lujo Hemorrhagic Fever
Myocarditis, Leukocytosis, Shock, Leukopenia, Subconjunctival hemorrhage, Bradycardia, Lymphopeni... ORPHA:319213
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypertension, Intracranial hemorrhage, Epistaxis, Pulmonary arterial hypertension, Second degree ... ORPHA:369929
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Low-output congestive heart failure, Shortened PR interval, Left ven... ORPHA:308552
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Palpitations, Shortened PR interval, Second degree atrioventricular block,... ORPHA:79102
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Renovascular hypertensio... ORPHA:391487
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Lymphopenia OMIM:617425
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Spondyloenchondrodysplasia With Immune Dysregulation
Neutropenia, Raynaud phenomenon, Autoimmune thrombocytopenia, Lymphopenia, T lymphocytopenia OMIM:607944
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Leukocytosis, Thrombocytosis, Intracranial hemorrhage, Anemia, Vasculitis... ORPHA:3260
Ataxia-Telangiectasia
Leukemia, Hypoplasia of the thymus, Conjunctival telangiectasia, Decreased proportion of CD4-posi... OMIM:208900
Atrioventricular Septal Defect 3
Hypertension, Pulmonary arterial hypertension, Congestive heart failure, First degree atrioventri... OMIM:600309
Crimean-Congo Hemorrhagic Fever
Myocarditis, Subdural hemorrhage, Melena, Splenomegaly, Pancytopenia, Diffuse alveolar hemorrhage... ORPHA:99827
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Neutrophilia, Abscess, Splenomegaly OMIM:612852
Heart Block, Congenital
Mitral regurgitation, Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Atria... OMIM:234700
Short Stature, Microcephaly, And Endocrine Dysfunction
Dilated cardiomyopathy, Anemia, Lymphopenia OMIM:616541
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrioventricular block, Hypertension ORPHA:371428
Marburg Hemorrhagic Fever
Shock, Pericarditis, Leukopenia, Neutrophilia in presence of infection, Subconjunctival hemorrhag... ORPHA:99826
Fusariosis
Brain abscess, Abnormality of the spleen, Neutropenia, Lung abscess, Lymphopenia, Granuloma ORPHA:228119
Leptospirosis
Pericarditis, Subconjunctival hemorrhage, Pulmonary hemorrhage, First degree atrioventricular blo... ORPHA:509
Familial Mediterranean Fever
Leukocytosis, Pericarditis, Neutrophilia, Splenomegaly OMIM:249100
Whim Syndrome
Lymphopenia, Neutropenia, Abnormality of neutrophil morphology ORPHA:51636
Yellow Fever
Shock, Leukocytosis, Reduced ejection fraction, Bradycardia, Neutrophilia, Thrombocytopenia, Hema... ORPHA:99829
Hyper-Igd Syndrome
Leukocytosis, Hepatosplenomegaly, Neutrophilia, Splenomegaly OMIM:260920
Telangiectasia, Hereditary Hemorrhagic, Type 2
Brain abscess, Spontaneous, recurrent epistaxis, Melena, Transient ischemic attack, Nasal mucosa ... OMIM:600376
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hypertrophic cardiomyopathy, Vasculitis, Transient ischemic attack, Shortened PR interval, Left v... ORPHA:365
Mucopolysaccharidosis Type 3
Atrioventricular block, Reduced ejection fraction, Splenomegaly ORPHA:581
Leukocyte Adhesion Deficiency Type Ii
Anemia, Leukocytosis, Microcytic anemia, Neutrophilia ORPHA:99843
Hyperoxaluria, Primary, Type I
Atrioventricular block, Arterial occlusion, Raynaud phenomenon, Intermittent claudication OMIM:259900
Syndromic Diarrhea
Thrombocytosis, Increased mean platelet volume, Hypoplasia of the thymus, Aortic regurgitation, S... ORPHA:84064
Primary Sjögren Syndrome
Normocytic anemia, Leukopenia, Normochromic anemia, Raynaud phenomenon, Vasculitis, Decreased pro... ORPHA:289390
Cowden Syndrome 1
Lymphopenia OMIM:158350
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Atrioventricular block, Arrhythmia ORPHA:93317
Acromesomelic Dysplasia 4
Third degree atrioventricular block OMIM:619636
Secondary Intestinal Lymphangiectasia
Right ventricular failure, Constrictive pericarditis, Lymphopenia, Intestinal bleeding ORPHA:90363
Atrial Septal Defect 1
Aortic valve stenosis, Second degree atrioventricular block OMIM:108800
Leopard Syndrome 1
Hypertrophic cardiomyopathy, Third degree atrioventricular block, Bundle branch block, Pulmonic s... OMIM:151100
African Trypanosomiasis
Myocarditis, Third degree atrioventricular block, Pericarditis, Splenomegaly, Second degree atrio... ORPHA:3385
Cushing Disease
Leukocytosis, Hypertension, Capillary fragility, Myocardial infarction, Lymphopenia, Decreased eo... ORPHA:96253
Cushing Syndrome Due To Ectopic Acth Secretion
Leukocytosis, Hypertension, Capillary fragility, Myocardial infarction, Lymphopenia, Decreased eo... ORPHA:99889

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 Synpo2

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 Synpo2.

No publications found that use IMPC mice or data for Synpo2.

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MGI Allele Allele Type Produced
Synpo2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Synpo2tm44538(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Synpo2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Synpo2tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice

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