Gene Summary

Name:
Rap guanine nucleotide exchange factor (GEF) 4
Synonyms:
5730402K07Rik,  6330581N18Rik,  cAMP-GEFII,  Epac2,  1300003D15Rik

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
thrombocytopenia Rapgef4em1(IMPC)H HET Early adult 3.58×10-05
increased red blood cell distribution width Rapgef4em1(IMPC)H HET Early adult 9.34×10-06
decreased fasting circulating glucose level Rapgef4em1(IMPC)H HOM   Early adult 6.34×10-05

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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.

Phenotype associated images not available

Human diseases caused by Rapgef4 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 Rapgef4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Catecholaminergic Polymorphic Ventricular Tachycardia
Syncope, Ventricular tachycardia, Sudden cardiac death ORPHA:3286
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... OMIM:614916
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... OMIM:612124
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Glycogen Storage Disease Xv
Scapular winging, ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachyca... OMIM:613507
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia ORPHA:3283
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... OMIM:618920
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis OMIM:206200
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:619747
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Cerebral hemo... OMIM:619897
Atrial Standstill
Skeletal muscle atrophy, Ventricular escape rhythm, Cardiac conduction abnormality, Atrial stands... ORPHA:1344
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Amegakaryocytic Thrombocytopenia, Congenital, 1
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia OMIM:604498
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... OMIM:615184
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Sideroblastic anemia OMIM:182170
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Palpitations, Left ventricular hyp... OMIM:613873
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Thrombocytopenia 7
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red... OMIM:619130
Atrial Fibrillation, Familial, 15
Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death OMIM:615770
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Spastic Paraplegia And Evans Syndrome
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia OMIM:601608
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Bleeding Disorder, Platelet-Type, 16
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... OMIM:187800
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... OMIM:609040
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt... OMIM:610476
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... ORPHA:3282
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Decreased muscle mass, Decreased muscle glycogen content, ST segment elevation, Ventricular tachy... ORPHA:263297
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... OMIM:615631
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Supravalvular Aortic Stenosis
Arrhythmia, Supravalvular aortic stenosis ORPHA:3193
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia OMIM:140700
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia OMIM:133180
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... ORPHA:86841
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... OMIM:115000
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Bleeding Disorder, Platelet-Type, 19
Thrombocytopenia, Macrothrombocytopenia, Anemia OMIM:616176
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Cardiomyopathy, Familial Hypertrophic, 25
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome OMIM:607487
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Atrial Standstill 1
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... OMIM:108770
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Danon Disease
Myocardial necrosis, Wolff-Parkinson-White syndrome, Congestive heart failure, Dilated cardiomyop... OMIM:300257
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Dilat... OMIM:611705
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Long Qt Syndrome 12
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes OMIM:612955
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval OMIM:220400
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Ventricular Fibrillation, Paroxysmal Familial, 2
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction OMIM:612956
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... OMIM:173590
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Anemia OMIM:615715
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... OMIM:614954
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Muscular Dystrophy, Progressive Pectorodorsal
Scapular winging, Shoulder girdle muscle weakness, Muscular dystrophy, Arrhythmia OMIM:310095
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... OMIM:612347
Naxos Disease
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... ORPHA:34217
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Thrombocythemia 2
Thrombocytosis OMIM:601977
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype... OMIM:616860
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Skeletal muscle atrophy, Atrial fibrillation, Proximal amyotrophy, Muscular dystrophy, Bradycardi... OMIM:614302
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:256450
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S... OMIM:224120
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:613424
Acute Myelomonocytic Leukemia
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia ORPHA:517
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, Atrioventricular block, Premature ventri... OMIM:212138
Peripartum Cardiomyopathy
Tachycardia, Left ventricular systolic dysfunction, Right ventricular failure, Cardiogenic shock,... ORPHA:563
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Dilated cardiomyopathy, Atrioventricular block, Supraventric... OMIM:612158
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... ORPHA:45452
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Acute Peripheral Arterial Occlusion
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Supraventricular tachyc... ORPHA:90064
Sick Sinus Syndrome 2
Aortic regurgitation, Atrial fibrillation, Paroxysmal atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,... OMIM:604169
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Fatty replacement of skeletal muscle, Myopathy, Supraventricular tachycardia, Cardiomyopathy OMIM:255100
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... OMIM:613980
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Trimethylaminuria
Hypertension, Tachycardia OMIM:602079
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Anemia, Neutropenia OMIM:614082
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ... OMIM:613426
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia OMIM:615285
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... OMIM:108950
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... OMIM:115200
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Cardiomyopathy, Familial Hypertrophic, 7
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Atrial fibrillation, Apical hypertro... OMIM:613690
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Palpitations,... OMIM:611493
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... OMIM:300908
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Brugada Syndrome 2
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... OMIM:611777
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Gray Platelet Syndrome
Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia ORPHA:721
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Malignant Hyperthermia Of Anesthesia
Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, High-output congestive heart failure, Abno... ORPHA:423
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... OMIM:608751
Orotic Aciduria
Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... OMIM:258900
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... ORPHA:75564
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Syncope, Premature ventricular contraction OMIM:192445
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Wolff-Parkinson-White syndrome, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,... OMIM:619566
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... ORPHA:98870
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis OMIM:300367
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... OMIM:617072
Timothy Syndrome
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Pulmonary ar... OMIM:601005
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Rhabdomyolysis, Palpitations OMIM:188580
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Ventricular tachycardia OMIM:600649
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia... OMIM:155100
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... ORPHA:71275
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Ventricular tachycardia, Syncope OMIM:615821
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia OMIM:616959
Andersen-Tawil Syndrome
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... ORPHA:37553
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... ORPHA:101016
Variegate Porphyria
Tachycardia OMIM:176200
Leber Hereditary Optic Neuropathy
Myopathy, Arrhythmia, Ventricular preexcitation, Retinal telangiectasia ORPHA:104
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia OMIM:616435
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Malaria
Anemia, Thrombocytopenia ORPHA:673
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Dilated cardiomyopathy, Vent... ORPHA:26793
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Acute rhabdomyolysis, Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, Torsade de pointes... OMIM:616878
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia OMIM:616738
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... OMIM:616201
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... OMIM:609620
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... OMIM:612690
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... OMIM:616812
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Immunodeficiency 46
Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Carnitine-Acylcarnitine Translocase Deficiency
Rhabdomyolysis, Ventricular tachycardia, Cardiomyopathy, Hypotension, Arrhythmia ORPHA:159
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia OMIM:607616
Bernard-Soulier Syndrome
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag... OMIM:231200
Nephrotic Syndrome, Type 7
Hemolytic anemia, Thrombocytopenia OMIM:615008
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Transcobalamin Deficiency
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia ORPHA:859
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... OMIM:614022
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... ORPHA:137675
Hemophagocytic Lymphohistiocytosis, Familial, 4
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia OMIM:603552
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:598500
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... ORPHA:216694
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Leukopenia, Thrombocytopenia OMIM:231095
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven... OMIM:300952
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic anemia, Macrocytic dyserythropoietic anemia OMIM:619789
Folate Malabsorption, Hereditary
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:229050
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... OMIM:617443
Coproporphyria, Hereditary
Hypertension, Tachycardia OMIM:121300
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu... OMIM:224700
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Rhabdomyolysis, Hypotension OMIM:145600
Hermansky-Pudlak Syndrome 9
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Aicardi-Goutieres Syndrome 6
Splenomegaly, Hemolytic anemia, Thrombocytopenia OMIM:615010
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Thrombocytopenia, Anemia, Splenomegaly OMIM:610539
Wt Limb-Blood Syndrome
Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia OMIM:194350
Snakebite Envenomation
Tachycardia, Epistaxis, Myocardial infarction, Rhabdomyolysis, Intracranial hemorrhage, Muscle fi... ORPHA:449285
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g... OMIM:601399
Jervell And Lange-Nielsen Syndrome
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation ORPHA:90647
Phosphoglycerate Dehydrogenase Deficiency
Thrombocytopenia, Megaloblastic anemia OMIM:601815
Myotonic Dystrophy 2
Tachycardia, Premature ventricular contraction, Right bundle branch block, Generalized amyotrophy... OMIM:602668
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis OMIM:266140
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Slc35A1-Cdg
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia ORPHA:238459
Cardiac Diverticulum
Abnormal EKG, Mitral stenosis, Diastasis recti, Angina pectoris, Tricuspid stenosis, Congestive h... ORPHA:1686
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Hemophagocytosis, Anemia OMIM:613101
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... OMIM:613243
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia ORPHA:88
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Bone Marrow Failure Syndrome 4
Leukopenia, Thrombocytopenia, Anemia OMIM:618116
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Skeletal muscle atrophy, Tachycardia, Glycogen accumulation in muscle fiber lysosomes, Rhabdomyol... ORPHA:368
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Thrombocytopenia OMIM:616744
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis OMIM:604273
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Anemia OMIM:615085
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Systemic Lupus Erythematosus 17
Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia OMIM:301080
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in... OMIM:153670
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Ventricular escape rhythm, Sudden card... ORPHA:98855
Infant Acute Respiratory Distress Syndrome
Tachycardia, Bradycardia, Cardiac arrest, Hypotension ORPHA:70587
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia OMIM:605676
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations ORPHA:276556
Gitelman Syndrome
Prolonged QT interval, Rhabdomyolysis, Ventricular tachycardia, Palpitations, Hypotension OMIM:263800
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia ORPHA:848
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Bleeding Disorder, Platelet-Type, 17
Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll... OMIM:187900
Acquired Methemoglobinemia
Tachycardia, Syncope, Palpitations, Arrhythmia ORPHA:464453
Stiff-Person Syndrome
Tachycardia, Proximal limb muscle stiffness, Hypertension, Asymmetric limb muscle stiffness, Axia... OMIM:184850
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia OMIM:611490
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations ORPHA:276575
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia OMIM:617948
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Hypertension, Tachycardia, Flexion contracture, Interphalangeal thumb joint contracture OMIM:613870
Amed Syndrome, Digenic
Acute myeloid leukemia, Leukopenia, Thrombocytopenia, Anemia OMIM:619151
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations ORPHA:276580
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Ventricular escape rhythm, Sudden card... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Ventricular escape rhythm, Sudden card... ORPHA:98853
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb... OMIM:226990
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Anemia, Leu... OMIM:613011
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171420
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Anemia ORPHA:2123
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... OMIM:617222
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:605373
Tumoral Calcinosis, Normophosphatemic, Familial
Calcinosis OMIM:610455
Isovaleric Acidemia
Leukopenia, Pancytopenia, Thrombocytopenia OMIM:243500
Transaldolase Deficiency
Thrombocytopenia, Anemia, Hepatosplenomegaly ORPHA:101028
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Ventricular escape rhythm, Sudden card... ORPHA:98863
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con... ORPHA:1329
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia ORPHA:67048
Eisenmenger Syndrome
Left-to-right shunt, Tricuspid regurgitation, Atrial fibrillation, Angina pectoris, Right ventric... ORPHA:97214
Systemic Lupus Erythematosus
Hemolytic anemia, Thrombocytopenia, Leukopenia OMIM:152700
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia ORPHA:276608
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Sitosterolemia 1
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... OMIM:210250
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... OMIM:618278
Hyperinsulinism Due To Hnf1A Deficiency
Tachycardia, Syncope, Palpitations ORPHA:324575
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Tachycardia ORPHA:90037
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ... OMIM:139090
Combined Oxidative Phosphorylation Deficiency 54
Tachycardia, Lower limb muscle weakness OMIM:619737
Vitamin B12-Unresponsive Methylmalonic Acidemia
Thrombocytopenia, Leukopenia, Macrocytic anemia, Anemia ORPHA:27
Aicardi-Goutieres Syndrome 4
Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly OMIM:610333
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612924
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Thrombocytopenia ORPHA:507
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Absent circulating B cells OMIM:619693
Primary Myelofibrosis
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatos... ORPHA:824
Stuve-Wiedemann Syndrome 2
Thrombocytopenia OMIM:619751
Gaucher Disease, Type Iii
Splenomegaly, Pancytopenia, Thrombocytopenia OMIM:231000
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, B lymphocytopenia, Neutropenia OMIM:150550
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Thrombocytopenia, Anemia, Neutropenia ORPHA:289916
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill... ORPHA:99103
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Abnorma... ORPHA:100026
Congenital Toxoplasmosis
Thrombocytopenia, Anemia ORPHA:858
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Reticulocytosis OMIM:130600
Tufted Angioma
Anemia, Thrombocytopenia ORPHA:1063
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612926
Myh9-Related Disease
Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele... ORPHA:182050
Immune Thrombocytopenia
Thrombocytopenia ORPHA:3002
Babesiosis
Splenomegaly, Leukopenia, Hemolytic anemia, Thrombocytopenia ORPHA:108
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Tachycardia, Atrial fibrillation, Centrally nucleated skeletal muscle fibe... OMIM:613327
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Splenomegaly, Anemia, Reduced natural killer cell count, Thrombocytopenia OMIM:616050
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia OMIM:613839
Isolated Agammaglobulinemia
Anemia, Thrombocytopenia, Abnormal lymphocyte morphology, Abnormality of neutrophils ORPHA:229717
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... ORPHA:158057
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thrombocytopenia, Megaloblastic anemia ORPHA:49827
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... ORPHA:66529
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er... OMIM:617021
Moyamoya Disease 6 With Or Without Achalasia
Thrombocytopenia OMIM:615750
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Thrombocytopenia, Anemia, Neutropenia ORPHA:79312
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia OMIM:614727
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... OMIM:603909
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia OMIM:603585
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Thrombocytopenia OMIM:249270
Noonan Syndrome 12
Lymphopenia, Thrombocytopenia OMIM:618624
Congenitally Uncorrected Transposition Of The Great Arteries
Tachycardia, Cardiac shunt, Congestive heart failure, Left ventricular outflow tract obstruction,... ORPHA:860
Atelis Syndrome 1
Leukopenia, Thrombocytopenia, Anemia OMIM:620184
Specific Granule Deficiency 2
Absent neutrophil specific granules, Thrombocytopenia, Anemia, Neutropenia OMIM:617475
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:612783
Sea-Blue Histiocytosis
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612925
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... ORPHA:101096
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Splenomegaly, Lymphocytosis, Hemophagocytosis, Neutropenia, Thromb... OMIM:308240
Pheochromocytoma/Paraganglioma Syndrome 1
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:168000
Letterer-Siwe Disease
Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly OMIM:246400
Ogden Syndrome
Torticollis, Ventricular tachycardia, Premature ventricular contraction, Torsade de pointes, Supr... OMIM:300855
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension... ORPHA:542323
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tachycardia OMIM:613239
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,... OMIM:304790
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Braddock-Carey Syndrome 2
Thrombocytopenia OMIM:619981
Hereditary Coproporphyria
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Tachycardia ORPHA:79273
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Rhabdoid Tumor
Thrombocytopenia, Anemia ORPHA:69077
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Thrombocytopenia, Lymphopenia, Anemia OMIM:620365
Congenital Fibrinogen Deficiency
Left ventricular hypertrophy, Tachycardia, Internal hemorrhage, Right ventricular hypertrophy ORPHA:335
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ... ORPHA:86839
Aggressive Systemic Mastocytosis
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increased propor... ORPHA:98850
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... OMIM:169400
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Thrombocytopenia OMIM:613987
Hydroxykynureninuria
Tachycardia, Hypotension ORPHA:79155
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation... OMIM:615745
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Neutropenia, Agra... OMIM:301078
Tetanus
Hypertension, Tachycardia, Bradycardia ORPHA:3299
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... ORPHA:75565
Neonatal Lupus Erythematosus
Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia ORPHA:398124
Preeclampsia
Thrombocytopenia ORPHA:275555
Stt3B-Cdg
Thrombocytopenia ORPHA:370924
Intermediate Osteopetrosis
Thrombocytopenia, Anemia, Hepatosplenomegaly ORPHA:210110
Thrombocytopenia 6
Thrombocytopenia OMIM:616937
Juvenile Neuronal Ceroid Lipofuscinosis
Tachycardia ORPHA:79264
Congenital Rubella Syndrome
Splenomegaly, Thrombocytopenia, Anemia ORPHA:290
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... OMIM:603554
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia OMIM:605432
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:259710
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde... ORPHA:3226
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia OMIM:615597
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Leukopenia, Poikilocytosis, Erythr... ORPHA:79277
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia ORPHA:90045
Hereditary Pulmonary Alveolar Proteinosis
Tachycardia ORPHA:264675
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia ORPHA:542306
Thrombocytopenia 1
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia OMIM:313900
Von Willebrand Disease, Type 3
Impaired platelet aggregation, Thrombocytopenia OMIM:277480
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia ORPHA:90036
Tularemia
Tachycardia ORPHA:3392
Fetal Gaucher Disease
Splenomegaly, Abnormality of the spleen, Pancytopenia, Thrombocytopenia ORPHA:85212
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Blue Rubber Bleb Nevus
Iron deficiency anemia, Thrombocytopenia OMIM:112200
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Tachycardia ORPHA:90033
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171300
High Altitude Pulmonary Edema
Tachycardia ORPHA:330012
Sengers Syndrome
Thrombocytopenia OMIM:212350
Stormorken Syndrome
Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Portal Hypertension, Noncirrhotic, 2
Splenomegaly, Thrombocytopenia OMIM:619463
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Thrombocytopenia, Hepatosplenomegaly ORPHA:210136
Gaucher Disease, Type I
Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:230800
Proteasome-Associated Autoinflammatory Syndrome 2
B lymphocytopenia, Increased CD4:CD8 ratio, Decreased proportion of memory B cells, Thrombocytopenia OMIM:618048
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Leukopenia, Thrombocytopenia, Pancytopenia, Anemia OMIM:613845
Relapsing Fever
Neutrophilia, Leukocytosis, Anemia, Leukopenia, Thrombocytopenia ORPHA:91547
Serotonin Syndrome
Hypertension, Tachycardia, Rhabdomyolysis, Hypotension ORPHA:43116
Propionic Acidemia
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia OMIM:606054
Cirrhotic Cardiomyopathy
Prolonged QT interval, Elevated jugular venous pressure, Left ventricular diastolic dysfunction, ... ORPHA:57777
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... ORPHA:90068
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... ORPHA:331206
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia OMIM:614074
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Thrombocytopenia, Anemia, Neutropenia OMIM:614520
Congenital Disorder Of Glycosylation, Type It
Tachycardia, Sudden cardiac death, Dilated cardiomyopathy, Rhabdomyolysis, Aborted sudden cardiac... OMIM:614921
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:274150
Mercury Poisoning
Hypertension, Tachycardia, Hypotension ORPHA:330021
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Leiomyosarcoma, Hypertension, Arrhythmia ORPHA:139411
Macrophage Activation Syndrome
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cell count, Thromboc... ORPHA:158061
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Normochromic anemia, Thrombocytopenia, Neutropenia OMIM:614857
Drug-Induced Lupus Erythematosus
Thrombocytopenia, Anemia ORPHA:231111
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Thrombocytopenia OMIM:616577
16P12.1P12.3 Triplication Syndrome
Tachycardia ORPHA:485405
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Thrombocytopenia OMIM:619644
Wolfram Syndrome 1
Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia OMIM:222300
Beemer-Ertbruggen Syndrome
Thrombocytopenia ORPHA:1237
Pseudo-Torch Syndrome 3
Leukocytosis, Congenital thrombocytopenia, Anemia OMIM:618886
Scorpion Envenomation
Bundle branch block, Tachycardia, Cardiac conduction abnormality, Congestive heart failure, Myoca... ORPHA:466677
Methylmalonic Aciduria, Cblb Type
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia OMIM:251110
Cog4-Cdg
Thrombocytopenia, Hepatosplenomegaly ORPHA:263501
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia OMIM:229700
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:235400
Acute Promyelocytic Leukemia
Pancytopenia, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia ORPHA:520
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia ORPHA:292
Transaldolase Deficiency
Pancytopenia, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:606003
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Congestive heart fa... ORPHA:31826
Griscelli Syndrome
Splenomegaly, Leukopenia, Thrombocytopenia, Abnormality of neutrophils ORPHA:381
Hepatoportal Sclerosis
Hypersplenism, Splenomegaly, Anemia, Leukopenia, Thrombocytopenia ORPHA:64743
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Leukocytosis, Anemia ORPHA:90060
X-Linked Agammaglobulinemia