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Gene: Rapgef4 MGI:1917723

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased fasting circulating glucose level Rapgef4em1(IMPC)H HOM   Early adult 6.34×10-05
increased red blood cell distribution width Rapgef4em1(IMPC)H HET Early adult 9.29×10-06
thrombocytopenia Rapgef4em1(IMPC)H HET Early adult 2.59×10-05

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Viewing: all phenotypes
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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, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis OMIM:603529
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... OMIM:604772
Catecholaminergic Polymorphic Ventricular Tachycardia
Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation... ORPHA:3286
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Premature ventricular contraction, Syncope, Ventricular tachycardia, Ventricular fibrillation, Ca... OMIM:614916
Ventricular Tachycardia, Familial
Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy OMIM:192605
Cardiomyopathy, Familial Hypertrophic, 12
Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular tachycardia, Reduced lef... OMIM:612124
Diamond-Blackfan Anemia 19
Anemia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618312
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... OMIM:604400
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... ORPHA:45453
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Cardiomyopathy, Dilated, 1G
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... OMIM:604145
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t... OMIM:611528
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... OMIM:613251
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati... OMIM:603830
Long Qt Syndrome 15
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... OMIM:616249
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death OMIM:107970
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor... OMIM:615441
Glycogen Storage Disease Xv
Type 1 muscle fiber predominance, T-wave inversion, Paroxysmal ventricular tachycardia, Scapular ... OMIM:613507
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Cardiomyopathy, Familial Hypertrophic, 16
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr... OMIM:613838
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... OMIM:607450
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc... OMIM:618920
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis OMIM:206200
Cardiomyopathy, Dilated, 2F
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:619747
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function ORPHA:231393
Cardiomyopathy, Dilated, 2I
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac... OMIM:620462
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... OMIM:619897
Atrial Standstill
Atrial standstill, Muscular dystrophy, Abnormal P wave, Skeletal muscle atrophy, Cardiomyopathy, ... ORPHA:1344
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Amegakaryocytic Thrombocytopenia, Congenital, 1
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Mitral regurgitation, Ventricular tachycardia, Increased left ventricular... OMIM:615184
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Decreased muscle glycogen content, Cardiomyopathy, Decreased muscle mass, Upper limb muscle weakn... ORPHA:263297
Cardiomyopathy, Familial Hypertrophic, 17
Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Left ventricular hypertrophy, Ventric... OMIM:613873
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:612098
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Atrial Fibrillation, Familial, 15
Supraventricular tachycardia, Atrial fibrillation, Sudden cardiac death, Atrial flutter OMIM:615770
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... OMIM:619130
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Spastic Paraplegia And Evans Syndrome
Autoimmune thrombocytopenia, Coombs-positive hemolytic anemia OMIM:601608
Rh-Null, Amorph Type
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis OMIM:617970
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Impaired platelet aggregation, Elliptocytosis, Macrocytic anemi... OMIM:300835
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Von Willebrand Disease, Platelet-Type
Intermittent thrombocytopenia OMIM:177820
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... OMIM:187800
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Brugada Syndrome 1
Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco... OMIM:601144
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Palpitations, Syncope, Ventricular arrhythmia, Sudden cardiac d... OMIM:610476
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure OMIM:609909
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, Premature ventricular cont... OMIM:609040
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Muscular Dystrophy, Congenital, Lmna-Related
Muscular dystrophy, Upper limb muscle weakness, Elbow contracture, Paroxysmal atrial fibrillation... OMIM:613205
Thrombocytopenia 9
Abnormal platelet aggregation, Thrombocytopenia OMIM:620478
Heinz Body Anemias
Heinz bodies, Nonspherocytic hemolytic anemia, Heinz body anemia OMIM:140700
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia OMIM:133180
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Cardiomyopathy, Dilated, 1E
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... OMIM:601154
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, A... ORPHA:86841
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Aborted sudden cardiac death, Polymorphic and polytopic ventricular extrasystoles, Torsade de poi... OMIM:115000
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Long Qt Syndrome 6
Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio... OMIM:613693
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia, Thrombocytopenia OMIM:616176
Long Qt Syndrome 2
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... OMIM:613688
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:601493
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... OMIM:615193
Atrial Standstill 1
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Premature atrial contra... OMIM:108770
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ... OMIM:611878
Cardiomyopathy, Familial Hypertrophic, 25
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome OMIM:607487
Wolff-Parkinson-White Syndrome
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... OMIM:194200
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
Danon Disease
Skeletal muscle autophagosome accumulation, Atrioventricular block, Dilated cardiomyopathy, Secon... OMIM:300257
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... OMIM:617280
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Long Qt Syndrome 5
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... OMIM:613695
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anemia, Thrombocytopenia, Neutropenia, Monocytosis OMIM:620534
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia, Reduced erythrocyte adenylate kinase activity OMIM:612631
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Atrio... OMIM:611705
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Nesidioblastosis, Hypoglycemia OMIM:601820
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval OMIM:220400
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea... OMIM:600884
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Ventricular Fibrillation, Paroxysmal Familial, 2
Premature ventricular contraction, Sudden cardiac death, Ventricular fibrillation OMIM:612956
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Long Qt Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat... OMIM:192500
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... OMIM:173590
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Thrombocytopenia OMIM:615715
Congenital Heart Defects, Multiple Types, 3
Atrioventricular block, Atrioventricular dissociation, Atrial fibrillation, Tachycardia, Right bu... OMIM:614954
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... OMIM:619271
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Premature ventricular contraction, Syncope, Prolonged QT interval, Sudden car... OMIM:612347
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Naxos Disease
Cardiomyopathy, Congestive heart failure, Arrhythmia, Paroxysmal ventricular tachycardia, Sudden ... ORPHA:34217
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Thrombocythemia 2
Thrombocytosis OMIM:601977
Refractory Anemia
Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Neut... ORPHA:98826
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Prox... OMIM:614302
Brugada Syndrome 3
Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi... OMIM:611875
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hypochromia, Anemia, Decre... OMIM:616860
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... OMIM:224120
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia ORPHA:517
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no... OMIM:613424
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti... ORPHA:563
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Left ventricular non... OMIM:612158
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:620481
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A... ORPHA:45452
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Left ventricular noncom... OMIM:163800
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Supraventricular tachycardia, Limb muscle weakness, Abnormality of... ORPHA:90064
Thrombocytopenia 2
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia OMIM:188000
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Atrioventricular block, Cardiomyopathy, Rhabdomyolysis, Premature ventricular contra... OMIM:212138
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter... ORPHA:300751
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Left Ventricular Noncompaction 1
Congestive heart failure, Left ventricular noncompaction, Left ventricular noncompaction cardiomy... OMIM:604169
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Palpitations, Permanent atrial fibrillation, Syncope, Prolonged Q... OMIM:613980
Trimethylaminuria
Tachycardia, Hypertension OMIM:602079
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia ORPHA:295
Bleeding Disorder, Platelet-Type, 22
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:618462
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Fatty replacement of skeletal muscle, Myopathy, Supraventricular tachycardia, Cardiomyopathy OMIM:255100
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations,... OMIM:601214
Fanconi Anemia, Complementation Group G
Leukemia, Anemia, Neutropenia, Thrombocytopenia OMIM:614082
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia OMIM:615285
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... ORPHA:99105
Long Qt Syndrome 14
T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca... OMIM:616247
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho... OMIM:108950
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Reduced left ventricul... OMIM:613426
Long Qt Syndrome 8
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... OMIM:618447
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Cardiomyopathy, Familial Hypertrophic, 7
Hypertrophic cardiomyopathy, Atrial fibrillation, Apical hypertrophic cardiomyopathy, Wolff-Parki... OMIM:613690
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitations, Permanent atrial fib... OMIM:611493
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Short Qt Syndrome 7
Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death OMIM:620231
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... OMIM:615916
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:615373
Short Qt Syndrome 2
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... OMIM:609621
Brugada Syndrome 2
Right bundle branch block, Syncope, First degree atrioventricular block, Ventricular fibrillation... OMIM:611777
Gray Platelet Syndrome
Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia ORPHA:721
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal muscle weakness in l... OMIM:619566
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:617072
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Retinitis Pigmentosa And Erythrocytic Microcytosis
Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ... OMIM:616959
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytosis, Poikilocytosis,... ORPHA:98870
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Premature ventricular contraction, Tachycardia, Syncope OMIM:192445
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Anisocytosis, Hypochromia, Poikilocytosis, Pyrimidine-r... OMIM:258900
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... ORPHA:75564
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left v... OMIM:608751
Malignant Hyperthermia Of Anesthesia
Necrotizing myopathy, Supraventricular tachycardia, High-output congestive heart failure, Exercis... ORPHA:423
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Optic Atrophy 16
Paroxysmal tachycardia OMIM:620629
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c... ORPHA:101016
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis OMIM:300367
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Timothy Syndrome
Atrioventricular block, Pulmonary arterial hypertension, Ventricular tachycardia, Bradycardia, Pr... OMIM:601005
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Ventricular tachycardia OMIM:600649
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Palpitations, Rhabdomyolysis OMIM:188580
Progressive Familial Heart Block, Type Ii
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... OMIM:140400
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Rh Deficiency Syndrome
Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytos... ORPHA:71275
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy... OMIM:155100
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... OMIM:187950
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... OMIM:620486
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... OMIM:159550
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Cernunnos-Xlf Deficiency
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia ORPHA:169079
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Andersen-Tawil Syndrome
Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular extrasystoles, Ab... ORPHA:37553
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Syncope, Dilated cardiomyopathy, Ventricular tachycardia OMIM:615821
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Cardiomyopathy, Dilated, 1Oo
Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l... OMIM:620247
Brugada Syndrome 5
Bundle branch block, Ventricular fibrillation, ST segment elevation OMIM:612838
Leber Hereditary Optic Neuropathy
Arrhythmia, Myopathy, Retinal telangiectasia, Ventricular preexcitation ORPHA:104
Variegate Porphyria
Tachycardia OMIM:176200
Fanconi Anemia, Complementation Group T
Anemia, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia OMIM:616435
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia OMIM:606762
Malaria
Anemia, Thrombocytopenia ORPHA:673
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrioventricular block, Dilated cardiomyopathy, Exercise-induced rhabdomyolysis, Arrhythmia, Vent... ORPHA:26793
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bradycardia, Atrial fibrillation... OMIM:616201
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Torsade de pointes, Hypertrophic cardiomyopathy, Rhabdomyolysis, Ventricular tachycardia, Ventric... OMIM:616878
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia OMIM:616738
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:616812
Short Qt Syndrome 1
Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud... OMIM:609620
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Long Qt Syndrome 16
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia OMIM:618782
Pontocerebellar Hypoplasia, Type 15
Anemia, Chronic neutropenia, Thrombocytopenia OMIM:619302
Immunodeficiency 46
Anemia, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... OMIM:601494
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells OMIM:607616
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Cardiomyopathy, Rhabdomyolysis, Arrhythmia, Ventricular tachycardia ORPHA:159
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Thrombo... OMIM:231200
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia ORPHA:859
Nephrotic Syndrome, Type 7
Hemolytic anemia, Thrombocytopenia OMIM:615008
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Platelet Disorder, Undefined
Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Anisocytos... OMIM:301310
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... OMIM:614022
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... ORPHA:137675
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia OMIM:603552
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Neutropenia, Megaloblastic anemia, Thrombocytopenia OMIM:598500
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic dyserythropoietic anemia, Macrocytic anemia OMIM:619789
Congenitally Corrected Transposition Of The Great Arteries
Arrhythmia, Heart block, Aortic regurgitation, Third degree atrioventricular block, Tricuspid reg... ORPHA:216694
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Refractory anemia, Thrombocytopenia OMIM:231095
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Incre... OMIM:617443
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... OMIM:301083
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis OMIM:166910
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Ventricular tachycardia, Ventricular fibrill... OMIM:300952
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Thrombocytopenia OMIM:610329
Ebstein Anomaly
Atrial standstill, Right bundle branch block, Ventricular preexcitation, Atrial fibrillation, Sud... OMIM:224700
Hermansky-Pudlak Syndrome 9
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Folate Malabsorption, Hereditary
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:229050
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension, Rhabdomyolysis OMIM:145600
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia ORPHA:88
Coproporphyria, Hereditary
Tachycardia, Hypertension OMIM:121300
Snakebite Envenomation
Epistaxis, Hypotension, Cardiogenic shock, Cerebral ischemia, Rhabdomyolysis, Muscle fiber necros... ORPHA:449285
Myotonic Dystrophy 2
Sternocleidomastoid amyotrophy, Palpitations, Weakness of facial musculature, Premature ventricul... OMIM:602668
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Arrhythmia, Syncope, Ventricular fibrillation, Prolonged QTc interval ORPHA:90647
Slc35A1-Cdg
Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules ORPHA:238459
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hypersplenism, Splenomegaly, Thrombocytopenia OMIM:610539
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis OMIM:266140
Cardiac Diverticulum
Aortic valve stenosis, Congestive heart failure, Abnormal EKG, Palpitations, Diastasis recti, Mit... ORPHA:1686
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Splenomegaly, Thrombocytopenia OMIM:615010
Bone Marrow Failure Syndrome 4
Anemia, Leukopenia, Thrombocytopenia OMIM:618116
Coronary Arterial Fistula
Aortic valve stenosis, Continuous heart murmur, Congestive heart failure, Abnormal EKG, Palpitati... ORPHA:2041
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, Anemia OMIM:613101
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:613243
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis OMIM:604273
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Rhabdomyolysis, Glycogen accumulation in mu... ORPHA:368
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Hemolytic anemia, Thrombocytopenia OMIM:616744
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate... OMIM:153670
Systemic Lupus Erythematosus 17
Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia OMIM:301080
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ... OMIM:620519
Osteopetrosis, Autosomal Recessive 8
Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Tako-Tsubo Cardiomyopathy
Atrial fibrillation, Hypotension, Cardiogenic shock, Prolonged QTc interval, Palpitations, Mitral... ORPHA:66529
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Infant Acute Respiratory Distress Syndrome
Tachycardia, Hypotension, Cardiac arrest, Bradycardia ORPHA:70587
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Atrioventricular block, Dilated cardiom... ORPHA:98855
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure OMIM:605676
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231226
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Tachycardia, Syncope, Palpitations ORPHA:276556
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia ORPHA:848
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro... ORPHA:35858
Stiff-Person Syndrome
Asymmetric limb muscle stiffness, Proximal limb muscle stiffness, Tachycardia, Hypertension, Axia... OMIM:184850
Gitelman Syndrome
Hypotension, Palpitations, Rhabdomyolysis, Ventricular tachycardia, Prolonged QT interval OMIM:263800
Acquired Methemoglobinemia
Tachycardia, Arrhythmia, Palpitations, Syncope ORPHA:464453
Bleeding Disorder, Platelet-Type, 17
Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Macrothrombocytope... OMIM:187900
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Tachycardia, Syncope, Palpitations ORPHA:276575
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Interphalangeal thumb joint contracture, Tachycardia, Flexion contracture, Hypertension OMIM:613870
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis OMIM:617948
Osteopetrosis, Autosomal Recessive 4
Anemia, Splenomegaly, Thrombocytopenia, Reticulocytosis OMIM:611490
Transaldolase Deficiency
Anemia, Hepatosplenomegaly, Thrombocytopenia ORPHA:101028
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Tachycardia, Syncope, Palpitations ORPHA:276580
Amed Syndrome, Digenic
Anemia, Leukopenia, Acute myeloid leukemia, Thrombocytopenia OMIM:619151
Thrombotic Thrombocytopenic Purpura
Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia ORPHA:54057
Immunodeficiency 32B
Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocytopenia, Neutrophil... OMIM:226990
Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Atrioventricular block, Dilated cardiom... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Atrioventricular block, Dilated cardiom... ORPHA:98853
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... OMIM:171420
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia ORPHA:2123
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... OMIM:617222
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Atrioventricular block, Right ventricular failure, Ab... ORPHA:1329
X-Linked Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Atrioventricular block, Limb-girdle mus... ORPHA:98863
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia ORPHA:67048
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Bun... ORPHA:99103
Eisenmenger Syndrome
Right ventricular failure, Right-to-left shunt, Tricuspid regurgitation, Palpitations, Supraventr... ORPHA:97214
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia ORPHA:276608
Sitosterolemia 1
Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb... OMIM:210250
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Congestive heart failure ORPHA:90037
Systemic Lupus Erythematosus
Leukopenia, Hemolytic anemia, Thrombocytopenia OMIM:152700
Hyperinsulinism Due To Hnf1A Deficiency
Tachycardia, Syncope, Palpitations ORPHA:324575
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:605373
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Anisocytosis, Poikilocytosis, ... OMIM:618278
Vitamin B12-Unresponsive Methylmalonic Acidemia
Anemia, Leukopenia, Thrombocytopenia, Macrocytic anemia ORPHA:27
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ... OMIM:139090
Combined Oxidative Phosphorylation Deficiency 54
Tachycardia, Lower limb muscle weakness OMIM:619737
Tufted Angioma
Anemia, Thrombocytopenia ORPHA:1063
Aicardi-Goutieres Syndrome 4
Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia OMIM:610333
Leishmaniasis
Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Thrombocytopenia, Anemia ORPHA:507
Stuve-Wiedemann Syndrome 2
Thrombocytopenia OMIM:619751
Thrombocytopenia 10
Decreased mean platelet volume, Thrombocytopenia OMIM:620484
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:612924
Babesiosis
Leukopenia, Hemolytic anemia, Splenomegaly, Thrombocytopenia ORPHA:108
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Thrombocytopenia, Neutropenia ORPHA:289916
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:613327
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Thrombocytopenia, Anem... ORPHA:100026
Congenital Toxoplasmosis
Anemia, Thrombocytopenia ORPHA:858
Gaucher Disease, Type Iii
Pancytopenia, Splenomegaly, Thrombocytopenia OMIM:231000
Agammaglobulinemia 9, Autosomal Recessive
Absent circulating B cells, Thrombocytopenia OMIM:619693
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent thrombocytopenia OMIM:150550
Isovaleric Acidemia
Pancytopenia, Leukopenia, Thrombocytopenia OMIM:243500
Myh9-Related Disease
Neutrophil inclusion bodies, Giant platelets, Congenital thrombocytopenia, Increased mean platele... ORPHA:182050
Elliptocytosis 2
Hemolytic anemia, Reticulocytosis, Elliptocytosis OMIM:130600
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia OMIM:613839
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia OMIM:616050
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:612926
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Thrombocytopenia ORPHA:49827
Isolated Agammaglobulinemia
Anemia, Abnormal lymphocyte morphology, Abnormality of neutrophils, Thrombocytopenia ORPHA:229717
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp... OMIM:603909
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ... OMIM:617021
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia OMIM:614727
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Thrombocytopenia, Splenomegaly, Neutropenia ORPHA:79312
Moyamoya Disease 6 With Or Without Achalasia
Thrombocytopenia OMIM:615750
Lymphoproliferative Syndrome, X-Linked, 1
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp... OMIM:308240
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Thrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia OMIM:603585
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Thrombocytopenia, Thiamine-responsive megaloblastic anemia OMIM:249270
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomega... ORPHA:158057
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Impaired collagen-induced platelet aggregation, Acute monocytic leukemia, Impaired arachidonic ac... OMIM:601399
Noonan Syndrome 12
Lymphopenia, Thrombocytopenia OMIM:618624
Congenitally Uncorrected Transposition Of The Great Arteries
Congestive heart failure, Abnormal QRS complex, Heart murmur, Abnormality of blood circulation, C... ORPHA:860
Atelis Syndrome 1
Anemia, Leukopenia, Thrombocytopenia OMIM:620184
Specific Granule Deficiency 2
Anemia, Absent neutrophil specific granules, Thrombocytopenia, Neutropenia OMIM:617475
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolytic anemia, Neutrope... OMIM:304790
Immunodeficiency 114, Folate-Responsive
Lymphopenia, Megaloblastic anemia, Splenomegaly, Thrombocytopenia OMIM:620603
Hereditary Coproporphyria
Tachycardia, Proximal muscle weakness in upper limbs, Proximal muscle weakness in lower limbs ORPHA:79273
Sea-Blue Histiocytosis
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:612925
Aregenerative Anemia
Pancytopenia, Decreased proportion of CD4-positive helper T cells, Abnormal proportion of CD8-pos... ORPHA:101096
Hydroxykynureninuria
Tachycardia, Hypotension ORPHA:79155
Ogden Syndrome
Torsade de pointes, Premature atrial contractions, Supraventricular tachycardia, Premature ventri... OMIM:300855
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tachycardia OMIM:613239
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Reduced left ventricular ejection fraction, Arrhythmia, Tachycardia, Capillary leak,... ORPHA:542323
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag... OMIM:619802
Letterer-Siwe Disease
Anemia, Hepatosplenomegaly, Neutropenia, Thrombocytopenia OMIM:246400
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Anemia, Lymphopenia, Thrombocytopenia OMIM:620365
Pheochromocytoma/Paraganglioma Syndrome 1
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:168000
Braddock-Carey Syndrome 2
Thrombocytopenia OMIM:619981
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Acute myeloid le... ORPHA:86839
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast... ORPHA:98850
Congenital Fibrinogen Deficiency
Tachycardia, Left ventricular hypertrophy, Right ventricular hypertrophy, Internal hemorrhage ORPHA:335
Neonatal Lupus Erythematosus
Aplastic anemia, Pancytopenia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Hemolytic anemia ORPHA:398124
Rhabdoid Tumor
Anemia, Thrombocytopenia ORPHA:69077
Pelger-Huet Anomaly
Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Neutropenia, Abnormalit... OMIM:169400
Immunodeficiency 98 With Autoinflammation, X-Linked
Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, ... OMIM:301078
Atrial Standstill 2
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Palpitations, Atrial arr... OMIM:615745
Hereditary Pulmonary Alveolar Proteinosis
Tachycardia ORPHA:264675
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Thrombocytopenia OMIM:613987
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Lymphopenia, Leukopenia, Neutropenia, Schistocytosis, Anemia, Thrombocytopenia, Hemolytic anemia OMIM:301110
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Tetanus
Tachycardia, Hypertension, Bradycardia ORPHA:3299
Stt3B-Cdg
Thrombocytopenia ORPHA:370924
Thrombocytopenia 6
Thrombocytopenia OMIM:616937
Juvenile Neuronal Ceroid Lipofuscinosis
Tachycardia ORPHA:79264
Congenital Rubella Syndrome
Anemia, Splenomegaly, Thrombocytopenia ORPHA:290
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymphocytopenia... OMIM:603554
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:605432
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Hepatosplenomegaly, Thrombocytopenia ORPHA:210136
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Leukocytosis, Splenomegaly, Thrombocytopenia, Abnormal neutrophil count, Myelopro... ORPHA:3226
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Bradycardia, Sick sinus syndrome, Prolonged PR interval ORPHA:542306
Congenital Erythropoietic Porphyria
Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anisocytosis, Thrombocytopenia,... ORPHA:79277
Osteopetrosis, Autosomal Recessive 2
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia, Anemia OMIM:259710
Hereditary Folate Malabsorption
Eosinophilia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia ORPHA:90045
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia OMIM:615597
Von Willebrand Disease, Type 3
Thrombocytopenia, Impaired platelet aggregation OMIM:277480
Thrombocytopenia 1
Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia OMIM:313900
High Altitude Pulmonary Edema
Tachycardia ORPHA:330012
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia ORPHA:90036
Tularemia
Tachycardia ORPHA:3392
Immune Thrombocytopenia
Thrombocytopenia ORPHA:3002
Blue Rubber Bleb Nevus
Iron deficiency anemia, Thrombocytopenia OMIM:112200
Cirrhotic Cardiomyopathy
Congestive heart failure, Elevated pulmonary artery pressure, Ventricular arrhythmia, Reduced lef... ORPHA:57777
Portal Hypertension, Noncirrhotic, 2
Splenomegaly, Thrombocytopenia OMIM:619463
Sengers Syndrome
Thrombocytopenia OMIM:212350
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Fetal Gaucher Disease
Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia ORPHA:85212
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Congestive heart failure ORPHA:90033
Pheochromocytoma
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... OMIM:171300
Relapsing Fever
Leukopenia, Leukocytosis, Thrombocytopenia, Neutrophilia, Anemia ORPHA:91547
Gaucher Disease, Type I
Pancytopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia OMIM:230800
Stormorken Syndrome
Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen OMIM:185070
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia OMIM:620367
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, B lymphocytopenia, Thrombocytopenia, Increased CD4:CD8 ratio OMIM:618048
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Anemia, Pancytopenia, Leukopenia, Thrombocytopenia OMIM:613845
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Thrombocytopenia ORPHA:294
Cocaine Intoxication
Diffuse alveolar hemorrhage, Hypotension, Prolonged QRS complex, Ischemic stroke, Rhabdomyolysis,... ORPHA:90068
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Anemia, Thrombocytopenia, Neutropenia OMIM:614520
Propionic Acidemia
Anemia, Pancytopenia, Thrombocytopenia, Neutropenia OMIM:606054
Serotonin Syndrome
Tachycardia, Hypotension, Hypertension, Rhabdomyolysis ORPHA:43116
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia OMIM:614074
Marfan Syndrome
Aortic regurgitation, Skeletal muscle atrophy, Congestive heart failure, Mitral regurgitation, Ve... ORPHA:558
Von Willebrand Disease
Microcytic anemia, Abnormal platelet function, Abnormality of thrombocytes, Thrombocytopenia ORPHA:903
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce... ORPHA:331206
Mercury Poisoning
Tachycardia, Hypotension, Hypertension ORPHA:330021
Congenital Disorder Of Glycosylation, Type It
Aborted sudden cardiac death, Dilated cardiomyopathy, Rhabdomyolysis, Pulmonary arterial hyperten... OMIM:614921
Thrombotic Thrombocytopenic Purpura, Hereditary
Schistocytosis, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia OMIM:274150
Diffuse Alveolar Hemorrhage
Anemia, Leukocytosis, Thrombocytopenia ORPHA:90060
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Thrombocytopenia, Normochromic anemia, Neutropenia OMIM:614857
Carney Triad
Gastrointestinal hemorrhage, Arrhythmia, Leiomyosarcoma, Tachycardia, Hypertension ORPHA:139411
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Thrombocytopenia OMIM:616577
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Thrombocytopenia ORPHA:83601
16P12.1P12.3 Triplication Syndrome
Tachycardia ORPHA:485405
Drug-Induced Lupus Erythematosus
Anemia, Thrombocytopenia ORPHA:231111
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Thrombocytopenia, Monocytosis OMIM:619644
Scorpion Envenomation
Cardiogenic shock, Prominent U wave, Congestive heart failure, Bundle branch block, Cardiac condu... ORPHA:466677
Macrophage Activation Syndrome
Hemophagocytosis, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Abnormal natural killer ce... ORPHA:158061
Beemer-Ertbruggen Syndrome
Thrombocytopenia ORPHA:1237
Acute Promyelocytic Leukemia
Pancytopenia, Leukopenia, Leukocytosis, Neutropenia, Thrombocytopenia, Anemia ORPHA:520