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

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lacZ Expression

Expression data not available

Associated Images

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

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
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia OMIM:618310
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Progressive Familial Heart Block, Type Ia
Complete heart block with broad QRS complexes, Left anterior fascicular block, Left posterior fas... OMIM:113900
Brugada Syndrome 2
Right bundle branch block, Ventricular fibrillation, Prolonged PR interval, Syncope, First degree... OMIM:611777
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Beta-Thalassemia, Dominant Inclusion Body Type
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc... OMIM:603902
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur... OMIM:610193
Myeloperoxidase Deficiency
Diminished neutrophil myeloperoxidase activity OMIM:254600
Polycythemia Vera
Gastrointestinal hemorrhage, Increased red blood cell mass, Leukocytosis, Cerebral ischemia, Budd... OMIM:263300
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ... OMIM:612240
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Immunodeficiency 53
Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin OMIM:617585
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Trimethylaminuria
Anemia, Hypertension, Splenomegaly, Tachycardia, Neutropenia OMIM:602079
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Hypertension, Prolonged PR interval OMIM:615378
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:300448
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit OMIM:609820
Erythrocytosis, Familial, 5
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617907
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Erythrocytosis, Familial, 7
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617981
Erythrocytosis, Familial, 6
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617980
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Erythrocytosis, Familial, 4
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:611783
Immunodeficiency 24
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... OMIM:615897
Reticular Dysgenesis
Congenital agranulocytosis, Leukopenia, Hypoplasia of the thymus, Lymphopenia OMIM:267500
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Plasmacytosis, Lymphopenia OMIM:247800
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Erythrocytosis, Familial, 1
Myocardial infarction, Increased red blood cell mass, Hypertension, Increased circulating hemoglo... OMIM:133100
Long Qt Syndrome 13
Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn... OMIM:613485
Refractory Anemia
Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Abnormal cardiac... ORPHA:98826
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Atrial Septal Defect, Ostium Primum Type
Congestive heart failure, Atrial flutter, Right-to-left shunt, Third heart sound, Atrial fibrilla... ORPHA:99106
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Specific Granule Deficiency 1
Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bactericida... OMIM:245480
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Splenomegaly, Lymphopenia, Autoimmune thrombocytopenia, Hemolytic an... ORPHA:444463
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Acute Erythroid Leukemia
Leukopenia, Anemia, Erythroid hypoplasia, Pancytopenia ORPHA:318
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d... OMIM:617280
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Sick sinus syndrome, Bradycardia, Ventricular escape rhythm, Arrhythmia, Prolonged PR interval ORPHA:542306
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Epis... OMIM:616216
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary hematopoiesis, Neutropenia OMIM:615285
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia ORPHA:169079
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, T-wave alternans, Atrioventricular block, Sudden card... OMIM:611819
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia ORPHA:494444
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Anemia, Leukemia, Neutropenia OMIM:614082
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced... OMIM:604772
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Cardiomyopathy, Dilated, 1E
Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr... OMIM:601154
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia OMIM:615401
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... OMIM:614172
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Neonatal Lupus Erythematosus
Aplastic anemia, Heart block, Anemia, Prolonged QT interval, Pancytopenia, Thrombocytopenia, Sple... ORPHA:398124
Brugada Syndrome
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... ORPHA:130
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia OMIM:618849
Immunodeficiency 52
Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B cell count, Lymph... OMIM:617514
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Acquired Idiopathic Sideroblastic Anemia
Congestive heart failure, Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancyto... ORPHA:75564
Diamond-Blackfan Anemia 4
Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia, Neutropenia OMIM:612527
Atrial Standstill 1
Paroxysmal atrial fibrillation, Premature atrial contractions, Ventricular escape rhythm, First d... OMIM:108770
Cardiomyopathy, Dilated, 1U
Congestive heart failure, Left bundle branch block, First degree atrioventricular block, Severely... OMIM:613694
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Abnormal lymphocyte count, Abnormal B cell count, L... OMIM:615615
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9
Leukopenia, Leukemia OMIM:620400
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... OMIM:604559
Sick Sinus Syndrome 4
Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma... OMIM:619464
Primary Familial Polycythemia
Polycythemia, Epistaxis, Abnormal hemoglobin ORPHA:90042
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... ORPHA:86841
Wolff-Parkinson-White Syndrome
Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu... OMIM:194200
Agammaglobulinemia 7, Autosomal Recessive
Abnormal T cell morphology, Reduced natural killer cell count, Neutropenia OMIM:615214
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Prolonged PR interval OMIM:108900
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Transcobalamin Deficiency
Neutropenia, Lymphopenia, Thrombocytopenia, Pancytopenia ORPHA:859
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia OMIM:620481
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Refractory anemia, Monocytosis, Leukopenia, Acute myeloid leukemia OMIM:616871
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Progressive Familial Heart Block, Type Ii
Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc... OMIM:140400
Cardiomyopathy, Dilated, 1G
Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat... OMIM:604145
Systemic Lupus Erythematosus 17
Hypertensive crisis, Thrombocytopenia, Leukopenia, Raynaud phenomenon, Lymphopenia, Autoimmune th... OMIM:301080
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Erythrocytosis, Familial, 2
Increased red blood cell mass, Hypotension, Pulmonary arterial hypertension, Increased circulatin... OMIM:263400
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Cardiomyopathy, Dilated, 1V
Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, A... OMIM:613697
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocytopenia, Monocyt... OMIM:614470
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Right bundle branch block, Atrioventricular block, Atrioventric... OMIM:614954
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Sick Sinus Syndrome 1
Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove... OMIM:608567
Ataxia-Pancytopenia Syndrome
Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro... OMIM:159550
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Immunodeficiency 76
B lymphocytopenia, Lymphopenia, Splenomegaly, T lymphocytopenia OMIM:619164
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
Immunodeficiency 46
Anemia, Intermittent thrombocytopenia, Neutropenia OMIM:616740
Long Qt Syndrome 14
2:1 atrioventricular block, Prolonged QT interval, Prolonged QTc interval, T-wave alternans, Card... OMIM:616247
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... OMIM:608203
Immunodeficiency 95
Lymphopenia OMIM:619773
Diamond-Blackfan Anemia 5
Leukopenia, Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia OMIM:612528
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Lymphopenia, D... OMIM:619846
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Poikilocytosis, Elliptocytosis, Anisocytosis, Thrombocytopenia, Abnormal retic... OMIM:300835
Cardiomyopathy, Dilated, 1A
Congestive heart failure, Atrial flutter, Atrial fibrillation, Sinus bradycardia, Ventricular arr... OMIM:115200
Hemochromatosis, Type 3
Cardiomyopathy, Neutropenia, Anemia, Lymphopenia OMIM:604250
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Congestive heart failure, Anemia, Reticulocytosis, Hepatos... ORPHA:846
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis OMIM:603529
Long Qt Syndrome 16
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Bradycardia OMIM:618782
Beta-Thalassemia
Anemia, Hypertrophic cardiomyopathy, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Microcy... ORPHA:848
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, An... OMIM:617780
Immunodeficiency 13
B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho... OMIM:615518
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Anemia of inadequate production, Persistence of hemoglobin F, Reticul... OMIM:613673
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia, Neutropenia OMIM:616949
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:300946
Idiopathic Aplastic Anemia
Anemia, Pancytopenia, Reticulocytopenia, Retinal hemorrhage, Thrombocytopenia, Epistaxis, Neutrop... ORPHA:88
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrial arrhythmia, First degree atrioventricular block, Atrioventricular block, Absent P wave, Pa... OMIM:310300
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Anemia, Increased mean corpuscular volume, Hypertension, Pulmonary arterial hypertension, Siderob... OMIM:617021
Cardiomyopathy, Familial Hypertrophic, 26
Congestive heart failure, Left anterior fascicular block, Left bundle branch block, Atrial fibril... OMIM:617047
Atrial Standstill
Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection... ORPHA:1344
Atrial Septal Defect, Sinus Venosus Type
Congestive heart failure, Atrial flutter, Atrial fibrillation, Supraventricular arrhythmia, Supra... ORPHA:99105
Diamond-Blackfan Anemia 12
Reticulocytopenia, Elevated red cell adenosine deaminase activity, Normochromic anemia, Macrocyti... OMIM:615550
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Neutropenia, Absent circulating B cells OMIM:613501
Gitelman Syndrome
Prolonged QT interval, Iron deficiency anemia, Prominent U wave, Low-to-normal blood pressure, ST... ORPHA:358
Familial Short Qt Syndrome
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... ORPHA:51083
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia OMIM:616738
Spherocytosis, Type 5
Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia, Abnormal... OMIM:612690
Left Ventricular Noncompaction 1
Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Left v... OMIM:604169
Hemophagocytic Lymphohistiocytosis, Familial, 4
Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Neutropenia OMIM:603552
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
Congenital Heart Block
Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Abnormal heart valv... ORPHA:60041
Tempi Syndrome
Polycythemia, Intracranial hemorrhage, Increased hematocrit, Telangiectasia ORPHA:284227
Ziegler-Huang Syndrome
Persistence of hemoglobin F, Macrocytic anemia, Neutropenia OMIM:620501
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis OMIM:619281
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, Impaired oxida... OMIM:226990
Fanconi Anemia, Complementation Group V
Thrombocytopenia, Anemia, Neutropenia OMIM:617243
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertrophic cardiomyopathy, A... OMIM:612158
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:598500
Slc35A1-Cdg
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Pulmonary hemorrhage, Neutropenia ORPHA:238459
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Neutropenia, B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abscess, Abnormal CD... OMIM:150550
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Neutropenia, Lymphopenia ORPHA:2688
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Thrombocytopenia, Leukopenia OMIM:231095
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
Immunodeficiency 44
Lymphopenia OMIM:616636
Congenital Myopathy 5 With Cardiomyopathy
Congestive heart failure, Arrhythmia, Severely reduced left ventricular ejection fraction, Atriov... OMIM:611705
Myopathy, Myofibrillar, 1
Bradycardia, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Thi... OMIM:601419
Acquired Methemoglobinemia
Tachycardia, Arrhythmia, Syncope, Palpitations, Methemoglobinemia ORPHA:464453
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Hemophagocytosis, Decr... OMIM:619802
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Reduced left ventricular ejection fraction, Premature ventricular contr... OMIM:620247
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Pulmonary insufficiency, Lymphopenia, T lymphocytopenia ORPHA:277
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Neutropenia, Decreased proportion of class-switched memory B cell... OMIM:619705
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, B lymphocytopenia, T lymphocytopenia, Leukopenia, Hepatosplenomegaly, Lymphopenia, ... OMIM:618986
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Left anterior fascicular block, Reduced left ventricular ejection fraction, Arrhythmia, Syncope, ... OMIM:181350
Relapsing Fever
Anemia, Leukocytosis, Hypotension, Neutrophilia, Thrombocytopenia, Leukopenia, Epistaxis, Tachyca... ORPHA:91547
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-positive T cells, Lymph... ORPHA:169154
Noonan Syndrome 12
Thrombocytopenia, Supravalvular aortic stenosis, Lymphopenia OMIM:618624
Disabling Pansclerotic Morphea Of Childhood
Neutropenia, Lymphopenia OMIM:620443
Sickle Cell Anemia
Ischemic stroke, Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular vol... ORPHA:232
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
First degree atrioventricular block, Ventricular tachycardia, Left bundle branch block OMIM:615616
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Thrombocytopenia, Anemia, Portal hypertension, Lymphopenia OMIM:620365
Systemic Lupus Erythematosus
Pericarditis, Thrombocytopenia, Leukopenia, Hemolytic anemia OMIM:152700
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a... OMIM:108950
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Leukopenia OMIM:614171
Attrv122I Amyloidosis
Abnormal atrioventricular conduction, Congestive heart failure, Anemia, Reduced left ventricular ... ORPHA:85451
Tropical Endomyocardial Fibrosis
P pulmonale, Abnormal ST segment, Splenomegaly, Prolonged QRS complex, Pulmonary venous hypertens... ORPHA:75565
Desminopathy
Congestive heart failure, Concentric hypertrophic cardiomyopathy, Supraventricular arrhythmia, At... ORPHA:98909
Lymphangiectasia, Intestinal
Lymphopenia OMIM:152800
Attrv30M Amyloidosis
Atrioventricular block, Cardiomyopathy, Arrhythmia ORPHA:85447
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Abnormal neutrophil count, Myeloproliferative disorder, Leukocytosis, Thrombocyto... ORPHA:3226
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Anemia, Schistocytosis, Leukopenia, Thrombocytopenia, Lymphopenia, Hemolytic anemia, Neutropenia OMIM:301110
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
Cardiomyopathy, Familial Hypertrophic, 4
Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, R... OMIM:115197
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Mitral regurgitation, Macrocytic ... OMIM:612561
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia OMIM:619767
Sneddon Syndrome
Ischemic stroke, Hypertension, Cerebral hemorrhage, Lymphopenia OMIM:182410
Immunodeficiency 114, Folate-Responsive
Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphopenia OMIM:620603
Beta-Thalassemia Intermedia
Anemia of inadequate production, Leukocytosis, Persistence of hemoglobin F, Pulmonary arterial hy... ORPHA:231222
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron... ORPHA:98849
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Abnormal T cell count, Transient neutropenia, ... OMIM:607676
Kearns-Sayre Syndrome
Sideroblastic anemia, Arrhythmia, Cardiomyopathy, Third degree atrioventricular block OMIM:530000
Steinert Myotonic Dystrophy
Left ventricular systolic dysfunction, Atrial fibrillation, Supraventricular tachycardia, Cardiac... ORPHA:273
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Leukopenia, Splenomegaly, Lymphopenia OMIM:620210
Aregenerative Anemia
Erythroid hypoplasia, Pancytopenia, Abnormal proportion of CD8-positive T cells, Reticulocytopeni... ORPHA:101096
Congenital Myopathy 24
First degree atrioventricular block, Cardiomyopathy OMIM:617336
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... OMIM:619510
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia,... ORPHA:486
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Abnormal natural killer cell count, Decreased proportion of CD3-posi... ORPHA:331206
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Anemia, Neutrophilia, Brain abscess ORPHA:54251
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
3-Methylglutaconic Aciduria, Type Viia
Anisopoikilocytosis, Anemia, Neutropenia OMIM:619835
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ... OMIM:616959
Maturity-Onset Diabetes Of The Young, Type 14
Elevated hemoglobin A1c OMIM:616511
Kearns-Sayre Syndrome
Third degree atrioventricular block ORPHA:480
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Decreased proporti... OMIM:617237
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hemophagocytosis, B lymphocytopenia, Agranulocytosis, Thrombocytopen... OMIM:301078
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... OMIM:616005
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Congestive heart failure, Anemia, B lymphocytopenia, Noncompaction cardiomyopathy, Reticulocytope... ORPHA:508542
Pulmonary Hypertension, Primary, 4
Elevated pulmonary artery pressure, Atrial flutter, Pulmonary arterial hypertension with lack of ... OMIM:615344
Danon Disease
Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial arrhythmia, Hypertrophic cardiom... OMIM:300257
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Decreased mean corpuscular volume OMIM:616943
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia ORPHA:1116
Icf Syndrome
Abnormality of neutrophils, Anemia, Lymphopenia ORPHA:2268
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, T lymphocytopenia, Hepatosplenomegaly, Lymphopenia, Abnormally low T cell ... OMIM:242700
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T c... ORPHA:760
Letterer-Siwe Disease
Thrombocytopenia, Anemia, Hepatosplenomegaly, Neutropenia OMIM:246400
Acute Radiation Syndrome
Hypotension, Thrombocytopenia, Lymphopenia, Granulocytopenia, Telangiectasia ORPHA:454831
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Atrial Septal Defect, Ostium Secundum Type
Congestive heart failure, Atrial flutter, Abnormal left ventricular function, Increased pulmonary... ORPHA:99103
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Neutropenia, Lymphopenia OMIM:614868
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Granuloma, Hepatosplenomegaly, Splenomegaly, Abscess, Lymphopenia, Impaired oxi... OMIM:618935
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration, Persistence o... ORPHA:231226
Timothy Syndrome
Prolonged QT interval, Bradycardia, Pulmonary arterial hypertension, Atrioventricular block, Vent... OMIM:601005
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Reduced natural killer cell count, Neutropenia, Cutaneous abscess, Lymphopenia OMIM:619752
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Congestive heart failure, Third heart sound, Elevated jugular... ORPHA:1329
Immunodeficiency 91 And Hyperinflammation
Hemophagocytosis, Neutrophilia, Thrombocytopenia, Hepatosplenomegaly, Pulmonary hemorrhage, Monoc... OMIM:619644
Beta-Thalassemia Major
Anisopoikilocytosis, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concent... ORPHA:231214
Cyclic Neutropenia
Perianal abscess, Lymphopenia, Tooth abscess, Thrombocytopenia, Decreased eosinophil count, Cycli... ORPHA:2686
Pgm3-Cdg
Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie... ORPHA:443811
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Bradycardia OMIM:614407
Carnitine-Acylcarnitine Translocase Deficiency
Bradycardia, Cardiac arrest, Cardiomyopathy, Hypotension, Premature ventricular contraction, Atri... OMIM:212138
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Bradycardia, ST segment elevation, Cardiomyopathy, Hypotension, Hypertr... OMIM:261740
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Eosinophilia, Hepatosplenomegaly, Lymphopenia ORPHA:169160
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Shwachman-Diamond Syndrome 1
Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut... OMIM:260400
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Anemia, Increased mean corpuscular volume, Budd-Chiari syndrome, Leukopenia, Thr... OMIM:127550
Staphylococcal Necrotizing Pneumonia
Hypotension, Leukocytosis, Neutrophilia, Leukopenia, Shock ORPHA:36238
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Melena, Thrombocytopenia, Leukopenia, Lymphopenia ORPHA:319218
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Vasculitis, Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells OMIM:617099
Polycythemia Vera
Acute leukemia, Pulmonary embolism, Gastrointestinal hemorrhage, Angina pectoris, Hypertension, L... ORPHA:729
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphopenia OMIM:616100
Gaisböck Syndrome
Myocardial infarction, Increased red blood cell count, Elevated plasma cell count, Increased mean... ORPHA:90041
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Pure red cell ... OMIM:613179
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Hypoplasia of the thymus, Bradycardia ORPHA:40366
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Anemia, Pancytopenia, Hypertension, Transient ischemic attack, Cerebr... OMIM:242900
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, B lymphocytopenia, Splenomegaly, Lymphopenia, Abnormally low T cell recept... OMIM:602450
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Leukopenia, Raynaud phenomenon, Lymphopenia, Thrombocytosis, Telangiectasia OMIM:615934
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of naive T cells, Decreased pr... ORPHA:276
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Right axis deviation, Sinus tachycardia, Subarachnoid hemorrhage,... OMIM:232300
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Pulmonary arterial hype... OMIM:612541
Cryptogenic Organizing Pneumonia
Neutrophilia, Leukocytosis ORPHA:1302
Psoriasis 14, Pustular
Neutrophilia, Leukocytosis OMIM:614204
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Schimke Immuno-Osseous Dysplasia
Congestive heart failure, Ischemic stroke, Anemia, Abnormal proportion of naive CD4 T cells, Hype... ORPHA:1830
Immunodeficiency 55
Absent natural killer cells, Neutropenia, Lymphopenia OMIM:617827
Wiskott-Aldrich Syndrome
Acute leukemia, Hematemesis, Anemia, Abnormal eosinophil morphology, Vasculitis, Hypoplasia of th... ORPHA:906
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent natural killer cells, Lymphopenia, Impaired lymphocyte transformation with phytohemaggluti... OMIM:600802
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia OMIM:619814
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Atrioventric... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Atrioventric... ORPHA:261
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Ventricular escape rhythm, Atrioventricular block, Dilated cardiomyo... ORPHA:98855
Familial Idiopathic Dilatation Of The Right Atrium
Paroxysmal atrial fibrillation, Reduced left ventricular ejection fraction, Abnormal cardiac vent... ORPHA:1677
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Leukocyt... OMIM:243150
Bone Marrow Failure Syndrome 3
Aplastic anemia, Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume,... OMIM:617052
Myotonic Dystrophy 1
Atrial fibrillation, First degree atrioventricular block, Atrial flutter OMIM:160900
Immunodeficiency 23
Vasculitis in the skin, Lymphopenia, Eosinophilia, Abscess, Hemolytic anemia, Neutropenia OMIM:615816
Immunodeficiency 87 And Autoimmunity
Autoimmune hemolytic anemia, Hypertension, Pulmonary arterial hypertension, Third degree atrioven... OMIM:619573
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, First degree atrioventricular block, Atrioventricular block ORPHA:392
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Syncope, Palpitations, Sinus bradycardia, Second degree atrioventricular block OMIM:616812
X-Linked Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Atrioventric... ORPHA:98863
Histiocytoid Cardiomyopathy
Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, Su... ORPHA:137675
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Kasabach-Merritt Phenomenon
Anemia, Reticulocytosis, Leukopenia, Thrombocytopenia, Microangiopathic hemolytic anemia, Neutrop... ORPHA:2330
Herpes Simplex Virus Encephalitis
Neutrophilia, Leukocytosis ORPHA:1930
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Ventricular fibrillation, Atrioventricular block, Arrhythmia, Tachycardia,... ORPHA:26793
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Anemia, Macrocytic anemia, Lymphopeni... OMIM:250250
Thymoma
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leukemia ORPHA:99867
Fabry Disease
Congestive heart failure, Anemia, Angina pectoris, Hypertension, Transient ischemic attack, Hyper... ORPHA:324
Sweet Syndrome
Small vessel vasculitis, Anemia, Acute myeloid leukemia, Chronic lymphatic leukemia, Sterile absc... ORPHA:3243
Lyme Disease
Atrioventricular block, Arrhythmia ORPHA:91546
Proteasome-Associated Autoinflammatory Syndrome 3
Thrombocytopenia, Anemia, Splenomegaly, Lymphopenia OMIM:617591
Mirage Syndrome
Anemia, Hypoplastic spleen, Thrombocytopenia, Leukopenia, Intracranial hemorrhage, Lymphopenia OMIM:617053
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, B lymphocytopenia, Lymph... OMIM:102700
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Hematemesis, Small vessel vasculitis, Large vessel vasculitis, Impai... OMIM:301000
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Leukocytosis, Neutrophilia, Hematochezia, Splenomegaly, Autoimmune t... OMIM:620565
Congenitally Corrected Transposition Of The Great Arteries
Bradycardia, Pulmonic stenosis, Arrhythmia, Heart murmur, Mobitz I atrioventricular block, Aortic... ORPHA:216694
Immunodeficiency 9
Hypoplasia of the thymus, Abnormal natural killer cell count, Lymphopenia OMIM:612782
Avian Influenza
Congestive heart failure, Thrombocytopenia, Leukopenia, Lymphopenia ORPHA:454836
Acute Generalized Exanthematous Pustulosis
Eosinophilia, Neutrophilia, Leukocytosis, Neutropenia ORPHA:293173
Primary Intestinal Lymphangiectasia
Decreased proportion of CD3-positive T cells, Reduced proportion of CD4+ effector memory T cells,... ORPHA:90362
Adult-Onset Still Disease
Myocarditis, Anemia, Leukocytosis, Pericarditis, Neutrophilia, Splenomegaly ORPHA:829
Pediatric Systemic Lupus Erythematosus
Lymphopenia, Thrombocytopenia, Leukopenia, Raynaud phenomenon, Microangiopathic hemolytic anemia ORPHA:93552
Lead Poisoning
Abnormal T cell morphology, Hypertension, Imbalanced hemoglobin synthesis, Anemia ORPHA:330015
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Anemia, Lymphopenia ORPHA:935
Common Variable Immunodeficiency
Vasculitis, Splenomegaly, Lymphopenia, Autoimmune thrombocytopenia, Hemolytic anemia ORPHA:1572
Diamond-Blackfan Anemia 1
Congestive heart failure, Elevated red cell adenosine deaminase activity, Macrocytic anemia, Incr... OMIM:105650
Legionnaires Disease
Myocarditis, Hypotension, Pericarditis, Arrhythmia, Splenomegaly, Lymphopenia ORPHA:549
Heart Block, Congenital
Absent atrioventricular node, Cardiomyopathy, Atrial arrhythmia, Atrioventricular block, Mitral r... OMIM:234700
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Congestive heart failure, Aortic regurgitation, Tricuspid regurgitation, Premature ventricular co... OMIM:620066
Congenital-Onset Steinert Myotonic Dystrophy
First degree atrioventricular block, Bundle branch block ORPHA:589821
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Anemia, Pancytopenia, Vasculitis, Hypertension, Leukocytosis, Portal hypertension, Leukopenia, Sp... OMIM:615688
Pneumocystosis
Abnormal neutrophil count ORPHA:723
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, T lymphocytopenia,... ORPHA:35078
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypertension, Pulmonary arterial hypertension, Epistaxis, Intracranial hemorrhage, Second degree ... ORPHA:369929
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Lymphocytosis, Neutropenia in presence of anti-neutropil antibodies,... ORPHA:3261
Lujo Hemorrhagic Fever
Myocarditis, Bradycardia, Leukocytosis, Hypotension, Thrombocytopenia, Leukopenia, Subconjunctiva... ORPHA:319213
Generalized Pustular Psoriasis
Congestive heart failure, Leukocytosis, Lymphopenia ORPHA:247353
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Congestive heart failure, B lymphocytopenia, Neutropenia in presence... ORPHA:391487
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Ventricular fibrillation, Palpitations, Shortened PR interval, Second degr... ORPHA:79102
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Neutrophilia, Abscess, Splenomegaly OMIM:612852
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular outflow tract obstruction, Low-output congestive heart failure, Hypertrophic car... ORPHA:308552
Idiopathic Hypereosinophilic Syndrome
Pulmonary embolism, Congestive heart failure, Anemia, Supraventricular arrhythmia, Myeloprolifera... ORPHA:3260
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrioventricular block, Hypertension ORPHA:371428
Spondyloenchondrodysplasia With Immune Dysregulation
T lymphocytopenia, Raynaud phenomenon, Lymphopenia, Autoimmune thrombocytopenia, Neutropenia OMIM:607944
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Crimean-Congo Hemorrhagic Fever
Hematemesis, Bradycardia, Hypertension, Leukopenia, Splenomegaly, Epistaxis, Diffuse alveolar hem... ORPHA:99827
Leptospirosis
Hypotension, Retinal hemorrhage, Pericarditis, Thrombocytopenia, Subconjunctival hemorrhage, Arrh... ORPHA:509
Ataxia-Telangiectasia
Hypoplasia of the thymus, T lymphocytopenia, Conjunctival telangiectasia, Acute lymphoblastic leu... OMIM:208900
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:301040
Combined Oxidative Phosphorylation Deficiency 15
Hypertension, Shortened PR interval, Wolff-Parkinson-White syndrome OMIM:614947
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypertension, Pulmonary arterial hypertension, Second degree atrioventricular block OMIM:615474
Marburg Hemorrhagic Fever
Bradycardia, Capillary leak, Neutrophilia in presence of infection, Abnormal lymphocyte morpholog... ORPHA:99826
Mucopolysaccharidosis Type 3
Atrioventricular block, Splenomegaly, Reduced left ventricular ejection fraction ORPHA:581
Familial Mediterranean Fever
Pericarditis, Neutrophilia, Leukocytosis, Splenomegaly OMIM:249100
Whim Syndrome
Neutropenia, Abnormal neutrophil morphology, Lymphopenia ORPHA:51636
Hyper-Igd Syndrome
Leukocytosis, Neutrophilia, Hepatosplenomegaly, Splenomegaly OMIM:260920
Telangiectasia, Hereditary Hemorrhagic, Type 2
Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Spontaneous, recurrent epistaxis, Na... OMIM:600376
Reynolds Syndrome
Gastrointestinal hemorrhage, Lip telangiectasia, Raynaud phenomenon, Splenomegaly, Lymphopenia, P... OMIM:613471
Yellow Fever
Hematemesis, Reduced left ventricular ejection fraction, Bradycardia, Capillary leak, Supraventri... ORPHA:99829
Glycogen Storage Disease Due To Acid Maltase Deficiency
Left ventricular outflow tract obstruction, Vasculitis, Transient ischemic attack, Hypertrophic c... ORPHA:365
Hyperoxaluria, Primary, Type I
Atrioventricular block, Intermittent claudication, Raynaud phenomenon, Arterial occlusion OMIM:259900
Alkaptonuria
Myocardial infarction, Hypertension, Aortic valve stenosis, Mitral stenosis, Mitral regurgitation... ORPHA:56
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Atrioventricular block, Arrhythmia ORPHA:93317
Acromesomelic Dysplasia 4
Third degree atrioventricular block OMIM:619636
Atrial Septal Defect 1
Aortic valve stenosis, Second degree atrioventricular block OMIM:108800
Meier-Gorlin Syndrome 7
Heart block, Second degree atrioventricular block OMIM:617063
Leopard Syndrome 1
Pulmonic stenosis, Bundle branch block, Third degree atrioventricular block, Hypertrophic cardiom... OMIM:151100
African Trypanosomiasis
Myocarditis, Congestive heart failure, Pericarditis, Hepatosplenomegaly, Splenomegaly, Arrhythmia... ORPHA:3385
Holt-Oram Syndrome
Tricuspid regurgitation, Pulmonary arterial hypertension, Pulmonic stenosis, Left ventricular non... OMIM:142900

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.

Order Mouse and ES Cells

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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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