Thrombocythemia 3 |
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Ischemic stroke, Thrombocytosis |
OMIM:614521 |
Thrombocytopenia 3 |
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Decreased mean platelet volume, Thrombocytopenia, Epistaxis |
OMIM:273900 |
Polycythemia Vera |
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Gastrointestinal hemorrhage, Increased red blood cell mass, Leukocytosis, Cerebral ischemia, Budd... |
OMIM:263300 |
Bleeding Disorder, Platelet-Type, 15 |
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Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre... |
OMIM:615193 |
Thrombocytopenia 10 |
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Decreased mean platelet volume, Spontaneous, recurrent epistaxis, Thrombocytopenia |
OMIM:620484 |
Thrombocythemia 2 |
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Thrombocytosis |
OMIM:601977 |
Thrombocythemia 1 |
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Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp... |
OMIM:187950 |
Acquired Idiopathic Sideroblastic Anemia |
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Congestive heart failure, Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancyto... |
ORPHA:75564 |
Thrombocytopenia 4 |
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Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
Thrombocytopenia 1 |
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Decreased mean platelet volume, Joint hemorrhage, Epistaxis, Intermittent thrombocytopenia, Conge... |
OMIM:313900 |
Immunodeficiency 69 |
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Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Failure to thrive, Hepatosplenomegaly, Sple... |
OMIM:618963 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... |
OMIM:202700 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
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Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... |
OMIM:314050 |
Bleeding Disorder, Platelet-Type, 16 |
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Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ... |
OMIM:187800 |
Giant platelet syndrome with thrombocytopenia |
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Thrombocytopenia, Giant platelets, Gastrointestinal hemorrhage |
OMIM:137560 |
Bleeding Disorder, Platelet-Type, 24 |
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Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl... |
OMIM:619271 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
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Neutrophil inclusion bodies, Giant platelets, Impaired epinephrine-induced platelet aggregation, ... |
OMIM:155100 |
Storage Pool Platelet Disease |
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Acute leukemia, Decreased mean platelet volume |
OMIM:185050 |
Asplenia, Isolated Congenital |
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Howell-Jolly bodies, Thrombocytosis, Asplenia |
OMIM:271400 |
Bleeding Disorder, Platelet-Type, 25 |
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Spontaneous, recurrent epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-in... |
OMIM:620486 |
Essential Thrombocythemia |
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Acute leukemia, Thrombocytosis, Transient ischemic attack, Leukocytosis, Abnormal platelet morpho... |
ORPHA:3318 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
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Lymphocytosis, Decreased mean platelet volume, Vasculitis, Failure to thrive, Vasculitis in the s... |
OMIM:617718 |
Juvenile Arthritis |
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Thrombocytosis, Leukocytosis |
OMIM:618795 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
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Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... |
ORPHA:86841 |
Platelet Glycoprotein Iv Deficiency |
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Thrombocytopenia, Giant platelets |
OMIM:608404 |
Bernard-Soulier Syndrome |
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Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia, Epistaxis, Macrothrombocytopenia,... |
OMIM:231200 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
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Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia |
ORPHA:494444 |
Dehydrated Hereditary Stomatocytosis 2 |
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Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu... |
OMIM:616689 |
Myh9-Related Disease |
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Myocardial infarction, Neutrophil inclusion bodies, Giant platelets, Spontaneous, recurrent epist... |
ORPHA:182050 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
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Macrothrombocytopenia |
OMIM:619840 |
Chronic Myeloid Leukemia |
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Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... |
ORPHA:521 |
Thrombocytopenia 2 |
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Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume |
OMIM:188000 |
Primary Myelofibrosis |
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Anemia, Thrombocytosis, Pancytopenia, Cachexia, Leukocytosis, Portal hypertension, Poikilocytosis... |
ORPHA:824 |
Wiskott-Aldrich Syndrome |
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Autoimmune hemolytic anemia, Hematemesis, Small vessel vasculitis, Large vessel vasculitis, Impai... |
OMIM:301000 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
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Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, An... |
OMIM:617780 |
Immunodeficiency 27A |
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Anemia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Weight loss, Thrombocytosis, Histiocytosis |
OMIM:209950 |
Immunodeficiency 14B, Autosomal Recessive |
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Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis |
OMIM:619281 |
Slc35A1-Cdg |
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Giant platelets, Abnormal platelet granules, Thrombocytopenia, Pulmonary hemorrhage, Neutropenia |
ORPHA:238459 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
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Thrombocytosis, Hepatosplenomegaly, Microcytic anemia, Pancytopenia |
OMIM:604416 |
Heme Oxygenase 1 Deficiency |
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Hypertension, Asplenia, Epistaxis, Coombs-positive hemolytic anemia, Diffuse alveolar hemorrhage,... |
OMIM:614034 |
Bleeding Disorder, Platelet-Type, 21 |
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Impaired platelet aggregation, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-ind... |
OMIM:617443 |
Bleeding Disorder, Platelet-Type, 19 |
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Macrothrombocytopenia, Thrombocytopenia, Anemia, Epistaxis |
OMIM:616176 |
Familial Thrombocytosis |
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Acute myeloid leukemia, Transient ischemic attack, Cerebral ischemia, Pulmonary arterial hyperten... |
ORPHA:71493 |
Polycythemia Vera |
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Acute leukemia, Pulmonary embolism, Gastrointestinal hemorrhage, Angina pectoris, Hypertension, L... |
ORPHA:729 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
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Impaired ADP-induced platelet aggregation, Hemolytic anemia, Increased mean platelet volume, Impa... |
OMIM:153670 |
Sickle Cell Anemia |
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Ischemic stroke, Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular vol... |
ORPHA:232 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
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Anemia, Thrombocytosis, Iron deficiency anemia, Budd-Chiari syndrome, Pulmonary embolism |
OMIM:226300 |
3-Hydroxy-3-Methylglutaric Aciduria |
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Anemia, Cardiac arrest, Leukocytosis, Hypotension, Leukopenia, Ataxia, Weight loss, Dilated cardi... |
ORPHA:20 |
Sting-Associated Vasculopathy, Infantile-Onset |
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Anemia, Failure to thrive, Leukopenia, Raynaud phenomenon, Lymphopenia, Thrombocytosis, Telangiec... |
OMIM:615934 |
Beta-Ketothiolase Deficiency |
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Hypertension, Leukocytosis, Hypotension, Ataxia, Weight loss, Thrombocytosis |
ORPHA:134 |
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay |
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Platelet anisocytosis, Increased mean platelet volume, Ventricular arrhythmia, Thrombocytopenia |
OMIM:620475 |
Pelger-Huet Anomaly |
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Giant platelets, Hyposegmentation of neutrophil nuclei, Failure to thrive, Thrombocytopenia, Abno... |
OMIM:169400 |
Autoerythrocyte Sensitization Syndrome |
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Gastrointestinal hemorrhage, Impaired platelet adhesion, Joint hemorrhage, Epistaxis, Intracrania... |
ORPHA:324636 |
Immunodeficiency 92 |
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Decreased proportion of class-switched memory B cells, Lymphocytosis, B lymphocytopenia, Leukocyt... |
OMIM:619652 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
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Impaired platelet aggregation, Thrombocytopenia, Macrothrombocytopenia |
OMIM:124900 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
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Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Leukocyt... |
OMIM:243150 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
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Increased mean platelet volume, Thrombocytopenia |
OMIM:300048 |
Bernard-Soulier Syndrome |
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Hematemesis, Gastrointestinal hemorrhage, Giant platelets, Spontaneous, recurrent epistaxis, Decr... |
ORPHA:274 |
Neuroleptic Malignant Syndrome |
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Pulmonary embolism, Bradycardia, Hypertension, Leukocytosis, Hypertensive crisis, Hypotension, Th... |
ORPHA:94093 |
Celiac Disease, Susceptibility To, 1 |
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Iron deficiency anemia, Macrocytic anemia, Failure to thrive, Ataxia, Weight loss, Thrombocytosis |
OMIM:212750 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
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Anemia, Pancytopenia, Vasculitis, Hypertension, Leukocytosis, Portal hypertension, Leukopenia, Sp... |
OMIM:615688 |
Brugada Syndrome |
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Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... |
ORPHA:130 |
Sitosterolemia 1 |
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Chronic hemolytic anemia, Giant platelets, Anemia, Impaired platelet aggregation, Episodic hemoly... |
OMIM:210250 |
Cogan Syndrome |
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Large vessel vasculitis, Anemia, Aortic regurgitation, Vasculitis, Leukocytosis, Thrombocytosis |
ORPHA:1467 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
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Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Congenital Disorder Of Glycosylation, Type Ia |
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Cardiomyopathy, Failure to thrive, Pericarditis, Ataxia, Thrombocytosis, Dysmetria |
OMIM:212065 |
Idiopathic Hypereosinophilic Syndrome |
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Pulmonary embolism, Congestive heart failure, Anemia, Supraventricular arrhythmia, Myeloprolifera... |
ORPHA:3260 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
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Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic... |
ORPHA:67044 |
Diamond-Blackfan Anemia |
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Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... |
ORPHA:124 |
Poems Syndrome |
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Pulmonary arterial hypertension, Polycythemia, Splenomegaly, Weight loss, Thrombocytosis |
ORPHA:2905 |
Long Qt Syndrome 15 |
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2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... |
OMIM:616249 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
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Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... |
OMIM:616117 |
Trichohepatoenteric Syndrome 1 |
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Aortic regurgitation, Pulmonic stenosis, Failure to thrive, Increased mean platelet volume, Splen... |
OMIM:222470 |
Diamond-Blackfan Anemia 1 |
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Congestive heart failure, Elevated red cell adenosine deaminase activity, Macrocytic anemia, Incr... |
OMIM:105650 |
Congenital Disorder Of Glycosylation, Type Iif |
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Decreased platelet glycoprotein Ib, Aortic regurgitation, Thrombocytopenia, Ataxia, Macrothromboc... |
OMIM:603585 |
Takenouchi-Kosaki Syndrome |
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Pulmonic stenosis, Increased mean platelet volume, Thrombocytopenia, Ataxia |
OMIM:616737 |
Syndromic Diarrhea |
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Aortic regurgitation, Hypoplasia of the thymus, Increased mean platelet volume, Splenomegaly, Lym... |
ORPHA:84064 |
Familial Short Qt Syndrome |
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Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... |
ORPHA:51083 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
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Thrombocytosis, Iron deficiency anemia, Lymphocytosis, Weight loss, Decreased proportion of memor... |
OMIM:301074 |
Interstitial Lung And Liver Disease |
|
Failure to thrive, Thrombocytosis, Anemia |
OMIM:615486 |
Congenital Disorder Of Glycosylation, Type Iig |
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Failure to thrive in infancy, Thrombocytopenia, Giant platelets, Anemia |
OMIM:611209 |
Brucellosis |
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Myocarditis, Anemia, Arteritis, Transient ischemic attack, Leukocytosis, Failure to thrive, Peric... |
ORPHA:1304 |
Bleeding Disorder, Platelet-Type, 17 |
|
Gastrointestinal hemorrhage, Impaired epinephrine-induced platelet aggregation, Absence of alpha ... |
OMIM:187900 |
Kawasaki Disease |
|
Myocarditis, Congestive heart failure, Vasculitis, Leukocytosis, Pericarditis, Arrhythmia, Thromb... |
ORPHA:2331 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Failure to thrive, Thrombocytosis, Leukocytosis, Hypochromic anemia |
OMIM:618213 |
Short Qt Syndrome 2 |
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Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde... |
OMIM:609621 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Increased mean platelet volume, Thrombocytopenia |
ORPHA:487796 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Impaired platelet aggregation, Leukocytosis, Abnormality of neutrophil ph... |
ORPHA:2968 |
Doors Syndrome |
|
Thrombocytosis |
ORPHA:79500 |