Glanzmann Thrombasthenia 1 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:273800 |
+173470 integrin, beta-3 |
|
Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune thrombocytopenia, Bruising suscepti... |
OMIM:173470 |
Cerebral Cavernous Malformations |
|
Cerebral cavernous malformation, Hepatic vascular malformations, Intracranial hemorrhage |
OMIM:116860 |
Aneurysm, Intracranial Berry, 12 |
|
Cerebral berry aneurysm, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Internal carotid ar... |
OMIM:618734 |
Acute Peripheral Arterial Occlusion |
|
Supraventricular tachycardia, Stroke, Leukocytosis, Absent ankle pulse, Pallor, Myocardial infarc... |
ORPHA:90064 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia |
ORPHA:46532 |
Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Abnormal bleeding, Prolonged bleeding after den... |
OMIM:231200 |
Afibrinogenemia, Congenital |
|
Abnormal umbilical stump bleeding, Hematemesis, Subdural hemorrhage, Persistent bleeding after tr... |
OMIM:202400 |
Moyamoya Disease With Early-Onset Achalasia |
|
Stroke, Raynaud phenomenon, Abnormal platelet aggregation, Moyamoya phenomenon, Abnormal cerebral... |
ORPHA:401945 |
Internal Carotid Absence |
|
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia |
ORPHA:981 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Immune Thrombocytopenia |
|
Petechiae, Cerebral hemorrhage, Bruising susceptibility, Gingival bleeding, Purpura, Gastrointest... |
ORPHA:3002 |
Polycythemia Vera |
|
Budd-Chiari syndrome, Increased hematocrit, Leukocytosis, Splenomegaly, Cerebral hemorrhage, Cere... |
OMIM:263300 |
Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:173590 |
Aneurysm, Intracranial Berry, 1 |
|
Intracranial hemorrhage, Dilatation of the cerebral artery |
OMIM:105800 |
Aneurysm, Intracranial Berry, 2 |
|
Cerebral berry aneurysm, Subarachnoid hemorrhage |
OMIM:608542 |
Familial Cervical Artery Dissection |
|
Carotid artery dilatation, Stroke, Carotid artery dissection, Recurrent cerebral hemorrhage, Suba... |
ORPHA:36382 |
Thrombocytopenia 7 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619130 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Bruising suscepti... |
OMIM:155100 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Abnormal bleeding, Abnormal platelet function, Anemia, Thrombo... |
ORPHA:231393 |
Acquired Purpura Fulminans |
|
Hepatic failure, Intracranial hemorrhage, Macular purpura, Shock, Internal hemorrhage, Thrombocyt... |
ORPHA:49566 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... |
ORPHA:75564 |
Congenital Factor Ii Deficiency |
|
Joint hemorrhage, Abnormal umbilical stump bleeding, Prolonged bleeding following circumcision, P... |
ORPHA:325 |
Evans Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Petechiae, Bruising susceptibility, Pallor,... |
ORPHA:1959 |
Thrombocytopenia 2 |
|
Bruising susceptibility, Thrombocytopenia, Leukocytosis |
OMIM:188000 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Pallor, Myeloproliferative disorder, Intracranial hemor... |
ORPHA:3226 |
Thrombocytopenic Purpura, Autoimmune |
|
Abnormal bleeding, Thrombocytopenia |
OMIM:188030 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Pallor, Abnormal bleeding, Eosinophilia, Anemia, Thrombocytopenia |
ORPHA:517 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Petechiae, Bruising susceptibility, Splenomegaly, Hemolytic anemia, Reticulocytosis, Thrombocytop... |
OMIM:314050 |
Preeclampsia/Eclampsia 1 |
|
Elevated hepatic transaminase, Thrombocytopenia, Hypertension |
OMIM:189800 |
Gray Platelet Syndrome |
|
Bruising susceptibility, Splenomegaly, Abnormal bleeding, Abnormality of thrombocytes, Thrombocyt... |
ORPHA:721 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Melena, Petechiae, Neonatal alloimmune thrombocytopenia, Abnormal bleeding, Intracranial hemorrha... |
ORPHA:853 |
Fetal Gaucher Disease |
|
Hepatomegaly, Splenomegaly, Intracranial hemorrhage, Abnormality of the spleen, Neonatal death, D... |
ORPHA:85212 |
Beta-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Pal... |
ORPHA:848 |
Bleeding Disorder, Platelet-Type, 16 |
|
Petechiae, Abnormal bleeding, Impaired platelet aggregation, Macrothrombocytopenia, Giant platele... |
OMIM:187800 |
Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia, Bruising susceptibility |
OMIM:614200 |
Hemochromatosis, Neonatal |
|
Hepatocellular necrosis, Hepatic failure, Abnormal bleeding, Cirrhosis, Cholestasis, Hepatic fibr... |
OMIM:231100 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Pallor, Poikilocytosi... |
OMIM:615234 |
Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia, Hepatomegaly, Subcutaneous hemorrhage, Abnormality of the liver |
ORPHA:1980 |
Congenital Factor Xiii Deficiency |
|
Joint hemorrhage, Abnormal umbilical stump bleeding, Cerebral hemorrhage, Persistent bleeding aft... |
ORPHA:331 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Stroke, Pallor, Paroxysmal atrial tachycardia, Thrombocytopenia, Cardiac ar... |
ORPHA:49827 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Pallor, Poikil... |
OMIM:615631 |
Bleeding Disorder, Platelet-Type, 17 |
|
Impaired collagen-induced platelet aggregation, Petechiae, Impaired epinephrine-induced platelet ... |
OMIM:187900 |
Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase ... |
OMIM:269600 |
Cardiomyopathy, Dilated, 2G |
|
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Mitral regurgitation... |
OMIM:619897 |
Cerebral Amyloid Angiopathy, Cst3-Related |
|
Intracranial hemorrhage, Stroke, Cerebral hemorrhage |
OMIM:105150 |
Cerebral Cavernous Malformations 2 |
|
Cerebral cavernous malformation, Telangiectasia, Stroke, Cerebral hemorrhage |
OMIM:603284 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619271 |
Factor Xiii, A Subunit, Deficiency Of |
|
Joint hemorrhage, Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Bruising s... |
OMIM:613225 |
Giant platelet syndrome with thrombocytopenia |
|
Bruising susceptibility, Prolonged bleeding after dental extraction, Giant platelets, Gastrointes... |
OMIM:137560 |
Circumvallate Placenta Syndrome |
|
Intracranial hemorrhage |
OMIM:215550 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Splenomegaly,... |
OMIM:251880 |
Non-Involuting Congenital Hemangioma |
|
Telangiectasia of the skin, Peripheral arteriovenous fistula, Hepatic hemangioma, Prominent super... |
ORPHA:141179 |
Abetal34V Amyloidosis |
|
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology |
ORPHA:324703 |
Thrombocytopenia, Cyclic |
|
Cyclic neutropenia, Abnormal bleeding, Thrombocytopenia, Neutropenia |
OMIM:188020 |
Glanzmann Thrombasthenia 2 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619267 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension, Thrombocytopenia |
OMIM:166990 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Pallor, Hemolytic anemia, Splenomegaly |
ORPHA:228312 |
Dengue Fever |
|
Petechiae, Hepatomegaly, Cerebral hemorrhage, Bruising susceptibility, Leukopenia, Hypotension, G... |
ORPHA:99828 |
Retinohepatoendocrinologic Syndrome |
|
Pallor, Degenerative liver disease |
OMIM:268040 |
Hemophilia A |
|
Joint hemorrhage, Bleeding with minor or no trauma, Intracranial hemorrhage, Intraventricular hem... |
ORPHA:98878 |
Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia, Epistaxis, Bruising susceptibility, Menorrhagia |
OMIM:616913 |
Von Willebrand Disease, Type 2 |
|
Thrombocytopenia, Epistaxis, Bruising susceptibility, Menorrhagia |
OMIM:613554 |
African Iron Overload |
|
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Peritonitis,... |
ORPHA:139507 |
Erythrocytosis, Familial, 1 |
|
Cerebral hemorrhage, Increased hematocrit, Splenomegaly, Increased red blood cell mass, Myocardia... |
OMIM:133100 |
Snakebite Envenomation |
|
Stroke, Abnormal bleeding, Intracranial hemorrhage, Tachycardia, Erythema, Cardiogenic shock, Hyp... |
ORPHA:449285 |
Congenital Factor V Deficiency |
|
Joint hemorrhage, Prolonged bleeding following circumcision, Persistent bleeding after trauma, Br... |
ORPHA:326 |
Platelet Glycoprotein Iv Deficiency |
|
Abnormal bleeding, Thrombocytopenia, Giant platelets, Prolonged bleeding time |
OMIM:608404 |
Primary Myelofibrosis |
|
Petechiae, Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Pallor, Hepato... |
ORPHA:824 |
Familial Afibrinogenemia |
|
Miscarriage, Cerebral hemorrhage, Abnormal bleeding, Gingival bleeding, Epistaxis |
ORPHA:98880 |
Hb Bart'S Hydrops Fetalis |
|
Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pallor, Pericarditis, Anemia, Congestive heart f... |
ORPHA:163596 |
Congenital Factor Vii Deficiency |
|
Joint hemorrhage, Bruising susceptibility, Post-partum hemorrhage, Intracranial hemorrhage, Menor... |
ORPHA:327 |
Von Willebrand Disease, Type 3 |
|
Joint hemorrhage, Persistent bleeding after trauma, Bruising susceptibility, Abnormal bleeding, M... |
OMIM:277480 |
Hemophilia B |
|
Joint hemorrhage, Cephalohematoma, Delayed onset bleeding, Prolonged bleeding after dental extrac... |
ORPHA:98879 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Post-partum hemorrhage, Menorrhagia, Impaired platelet aggregation, Macrothrombocytopenia, Thromb... |
OMIM:124900 |
Reversible Cerebral Vasoconstriction Syndrome |
|
Subdural hemorrhage, Cerebral hemorrhage, Abnormal bleeding, Intraventricular hemorrhage, Subarac... |
ORPHA:284388 |
Portal Hypertension, Noncirrhotic, 2 |
|
Petechiae, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia... |
OMIM:619463 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Purpura, Pulmonary embolism, Cerebral hemorrhage |
OMIM:614514 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Megaloblastic anemia, Hepatomegaly, Pallor, Pancytopenia, Thrombocytopenia, Jaundice |
OMIM:613839 |
Slc35A1-Cdg |
|
Subcutaneous hemorrhage, Abnormal bleeding, Pulmonary hemorrhage, Prolonged bleeding time, Giant ... |
ORPHA:238459 |
Thrombocytopenia 5 |
|
Petechiae, Bruising susceptibility, Neutropenia, Anemia, Thrombocytopenia, Epistaxis |
OMIM:616216 |
Rapidly Involuting Congenital Hemangioma |
|
Telangiectasia of the skin, Peripheral arteriovenous fistula, Hepatic hemangioma, Prominent super... |
ORPHA:141184 |
Gray Platelet Syndrome |
|
Impaired collagen-induced platelet aggregation, Bruising susceptibility, Splenomegaly, Abnormal b... |
OMIM:139090 |
Carcinoid Syndrome |
|
Tricuspid regurgitation, Right ventricular failure, Palpitations, Heart murmur, Elevated hepatic ... |
ORPHA:100093 |
Severe Hemophilia A |
|
Joint hemorrhage, Prolonged bleeding following circumcision, Subdural hemorrhage, Persistent blee... |
ORPHA:169802 |
Stuve-Wiedemann Syndrome 2 |
|
Death in adolescence, Neonatal death, Thrombocytopenia, Pulmonary arterial hypertension, Stillbir... |
OMIM:619751 |
Factor X Deficiency |
|
Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Intramuscular hematoma, Gingival bleeding... |
OMIM:227600 |
Congenital Factor X Deficiency |
|
Joint hemorrhage, Hemoperitoneum, Abnormal umbilical stump bleeding, Bruising susceptibility, Pos... |
ORPHA:328 |
Bleeding Disorder, Platelet-Type, 19 |
|
Abnormal bleeding, Menorrhagia, Macrothrombocytopenia, Spontaneous hematomas, Anemia, Epistaxis |
OMIM:616176 |
Familial Cerebral Saccular Aneurysm |
|
Cerebral berry aneurysm, Intracranial hemorrhage, Subarachnoid hemorrhage, Aortic dissection, Aor... |
ORPHA:231160 |
Acquired Von Willebrand Syndrome |
|
Joint hemorrhage, Melena, Aortic valve stenosis, Persistent bleeding after trauma, Subcutaneous h... |
ORPHA:99147 |
Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia, Prolonged bleeding time |
OMIM:177820 |
Leishmaniasis |
|
Hepatomegaly, Splenomegaly, Pallor, Abnormal bleeding, Leukopenia, Abnormal macrophage morphology... |
ORPHA:507 |
Retinitis Pigmentosa 42 |
|
Pallor |
OMIM:612943 |
Myh9-Related Disease |
|
Neutrophil inclusion bodies, Bruising susceptibility, Menorrhagia, Congenital thrombocytopenia, I... |
ORPHA:182050 |
Bleeding Disorder, Platelet-Type, 15 |
|
Increased mean platelet volume, Thrombocytopenia, Epistaxis, Platelet anisocytosis |
OMIM:615193 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Dilated cardiomyopathy, Hepatic necrosis, Hypertrophic cardiomyopathy,... |
OMIM:231530 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Melena, Post-partum hemorrhage, Pallor, Anisocytosis, Oral cav... |
ORPHA:98870 |
Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Cerebral hemorrhage |
OMIM:603285 |
Combined Deficiency Of Factor V And Factor Viii |
|
Joint hemorrhage, Prolonged bleeding following circumcision, Bruising susceptibility, Bleeding wi... |
ORPHA:35909 |
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Joint hemorrhage, Miscarriage, Hemoperitoneum, Persistent bleeding after trauma, Subcutaneous hem... |
ORPHA:465 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Joint hemorrhage, Cerebral hemorrhage, Bruising susceptibility, Abnormal bleeding, Elevated hepat... |
OMIM:277450 |
Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
Quebec Platelet Disorder |
|
Joint hemorrhage, Impaired epinephrine-induced platelet aggregation, Bruising susceptibility, Men... |
OMIM:601709 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... |
OMIM:615285 |
Hepatoportal Sclerosis |
|
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... |
ORPHA:64743 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... |
OMIM:133180 |
Hereditary Hemorrhagic Telangiectasia |
|
Cholelithiasis, Telangiectasia of the skin, Arteriovenous malformation, Hepatic failure, Subarach... |
ORPHA:774 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Abnormal dense granule content, Bruising susceptibility, Acute monocytic leukemia, Impaired plate... |
OMIM:601399 |
Abeta Amyloidosis, Iowa Type |
|
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology |
ORPHA:324708 |
Factor Vii Deficiency |
|
Joint hemorrhage, Abnormal bleeding, Intracranial hemorrhage, Menorrhagia, Epistaxis |
OMIM:227500 |
Retinitis Pigmentosa 81 |
|
Pallor |
OMIM:617871 |
Transaldolase Deficiency |
|
Telangiectasia, Cirrhosis, Hepatosplenomegaly, Coarctation of aorta, Premature skin wrinkling, An... |
ORPHA:101028 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Sudden cardiac death, Death in infanc... |
OMIM:201475 |
Glanzmann Thrombasthenia |
|
Impaired ristocetin-induced platelet aggregation, Prolonged bleeding following circumcision, Brui... |
ORPHA:849 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly,... |
ORPHA:231222 |
X-Linked Sideroblastic Anemia |
|
Pallor, Elevated hepatic transaminase, Anemia, Splenomegaly |
ORPHA:75563 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Decreased liver function, Arrhythmia, Thrombocytopenia, Patent ductus arteriosus, Hypertension, S... |
OMIM:617021 |
Erythrocytosis, Familial, 2 |
|
Stroke, Increased hematocrit, Cerebral hemorrhage, Hypotension, Increased red blood cell mass, In... |
OMIM:263400 |
Retinitis Pigmentosa 60 |
|
Pallor |
OMIM:613983 |
Moderate Hemophilia A |
|
Joint hemorrhage, Subdural hemorrhage, Subcutaneous hemorrhage, Bleeding with minor or no trauma,... |
ORPHA:169805 |
Brain Small Vessel Disease 2 |
|
Intracranial hemorrhage, Ventriculomegaly |
OMIM:614483 |
Refractory Anemia |
|
Anemia of inadequate production, Abnormal bleeding, Normocytic anemia, Erythroid hypoplasia, Macr... |
ORPHA:98826 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor, Palpitations, Tachycardia, Syncope, H... |
ORPHA:276556 |
Aicardi-Goutieres Syndrome 3 |
|
Elevated hepatic transaminase, Hepatosplenomegaly, Thrombocytopenia, Death in childhood |
OMIM:610329 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor, Palpitations, Tachycardia, Syncope, F... |
ORPHA:276575 |
Pediatric Hepatocellular Carcinoma |
|
Hepatic fibrosis, Hepatomegaly, Hepatic necrosis |
ORPHA:33402 |
Autoimmune Hemolytic Anemia |
|
Abnormal leukocyte morphology, Splenomegaly, Pallor, Arrhythmia, Hemolytic anemia, Congestive hea... |
ORPHA:98375 |
Roch-Leri Mesosomatous Lipomatosis |
|
Purpura, Thrombocytopenia |
ORPHA:529 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Pallor, Decreased hemoglobin concentration, Cholecyst... |
OMIM:266200 |
Isovaleric Acidemia |
|
Leukopenia, Thrombocytopenia, Cerebellar hemorrhage, Pancytopenia |
OMIM:243500 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Microvesicular hepatic steatosis, Stroke, Hepatic failure, Hypertrophic cardiomyopathy, Death in ... |
OMIM:611126 |
Breath-Holding Spells |
|
Pallor, Iron deficiency anemia |
OMIM:607578 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Pallor, Tachycardia, Autoimmune hemolytic anemia, Congestive heart failure |
ORPHA:90037 |
Hepatocellular Carcinoma |
|
Abnormality of the hepatic vasculature, Budd-Chiari syndrome, Hepatomegaly, Hemobilia, Anemia, Po... |
ORPHA:88673 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Anemia of inadequate production, Petechiae, Persistent bleeding after trauma, Bruising susceptibi... |
OMIM:300367 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Cerebellar hemorrhage, Acute hepatic failure, Hypertrophic cardiomyopathy, Sudden cardiac death, ... |
ORPHA:99901 |
Sneddon Syndrome |
|
Lymphopenia, Cerebral hemorrhage, Stroke, Hypertension, Ischemic stroke |
OMIM:182410 |
Athrombia, Essential |
|
Impaired platelet aggregation, Impaired platelet adhesion, Prolonged bleeding time |
OMIM:209050 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor, Palpitations, Tachycardia, Syncope, H... |
ORPHA:276580 |
Amegakaryocytic Thrombocytopenia, Congenital |
|
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia |
OMIM:604498 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Stroke, Cerebral hemorrhage, Intracranial hemorrhage, Cerebral ischemia, Arterial stenosis, Lacun... |
ORPHA:136 |
Optic Atrophy 9 |
|
Pallor |
OMIM:616289 |
Tempi Syndrome |
|
Increased hematocrit, Polycythemia, Intracranial hemorrhage, Facial erythema, Telangiectasia |
ORPHA:284227 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Joint hemorrhage, Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Bruising s... |
ORPHA:79 |
Bleeding Disorder, Platelet-Type, 18 |
|
Impaired platelet aggregation, Epistaxis, Prolonged bleeding time |
OMIM:615888 |
Autoerythrocyte Sensitization Syndrome |
|
Joint hemorrhage, Impaired platelet adhesion, Bruising susceptibility, Intracranial hemorrhage, A... |
ORPHA:324636 |
Hereditary Spherocytosis |
|
Cholelithiasis, Hepatomegaly, Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemia, ... |
ORPHA:822 |
Familial Multiple Nevi Flammei |
|
Arteriovenous malformation, Intracranial hemorrhage, Pulmonary embolism, Arrhythmia, Skin ulcer, ... |
ORPHA:624 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Bruising susceptibility, Splenomegaly, Abnormal bleeding, Microcytic anemia, Neutropenia, HbH hem... |
ORPHA:231401 |
Brain Small Vessel Disease 3 |
|
Cerebral hemorrhage |
OMIM:618360 |
Wiskott-Aldrich Syndrome |
|
Sudden cardiac death, Hematochezia, Spontaneous hematomas, Skin ulcer, Prolonged bleeding time, R... |
ORPHA:906 |
Acute Liver Failure |
|
Hepatocellular necrosis, Bruising susceptibility, Abnormal bleeding, Intracranial hemorrhage, Hyp... |
ORPHA:90062 |
Fechtner syndrome |
|
Neutrophil inclusion bodies, Bruising susceptibility, Abnormal bleeding, Menorrhagia, Leukocyte i... |
OMIM:153640 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Foam cells with lamellar inclusion bodies, Th... |
OMIM:607616 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Prolonged QT interval, Dilated cardiomyopat... |
ORPHA:71212 |
Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
Sneddon Syndrome |
|
Hypertension, Intracranial hemorrhage, Arterial stenosis |
ORPHA:820 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Pallor, Increased red cell hemolysis by shear stress,... |
OMIM:194380 |
Pseudo-Torch Syndrome 3 |
|
Cerebral hemorrhage, Leukocytosis, Congenital thrombocytopenia, Death in infancy, Hypertension, A... |
OMIM:618886 |
Babesiosis |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Leukopenia, Hemolytic anemia, Myocardial infarction,... |
ORPHA:108 |
Neonatal Lupus Erythematosus |
|
Neutropenia, Hepatomegaly, Atrioventricular block, Splenomegaly, Hepatic failure, Abnormal bleedi... |
ORPHA:398124 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Pallor, Tachycardia, Chronic lymphatic leukemia, Autoimmune hemolytic anemia, Jaund... |
ORPHA:90033 |
Bleeding Disorder, Platelet-Type, 11 |
|
Bruising susceptibility, Menorrhagia, Ecchymosis, Epistaxis, Prolonged bleeding time |
OMIM:614201 |
Idiopathic Aplastic Anemia |
|
Retinal hemorrhage, Pancytopenia, Gingival bleeding, Ecchymosis, Neutropenia, Anemia, Thrombocyto... |
ORPHA:88 |
Pseudo-Torch Syndrome 2 |
|
Petechiae, Hepatomegaly, Cerebral hemorrhage, Elevated hepatic transaminase, Patent ductus arteri... |
OMIM:617397 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Hep... |
OMIM:278000 |
Fetal Parvovirus Syndrome |
|
Anemia, Thrombocytopenia, Hypertrophic cardiomyopathy |
ORPHA:295 |
Preeclampsia |
|
Abnormality of the hepatic vasculature, Elevated systolic blood pressure, Elevated hepatic transa... |
ORPHA:275555 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Catastrophic Antiphospholipid Syndrome |
|
Angina pectoris, Abnormal heart valve physiology, Miscarriage, Stroke, Coombs-positive hemolytic ... |
ORPHA:464343 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Neutropenia, Pallor, Abnormal bleeding, Tachycardia, Anisopoikilocytosis, M... |
ORPHA:35858 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Melena, Vitreous hemorrhage, Cerebral hemorrhage, Hematemesis, Hypertrophic cardiomyopathy, Muscl... |
ORPHA:464321 |
Bleeding Disorder, Platelet-Type, 14 |
|
Epistaxis, Ecchymosis, Bruising susceptibility, Prolonged bleeding time |
OMIM:614158 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Pancreatitis, Hepatomegaly, Cerebellar hemorrhage, Leukopenia, Neutropenia, Thrombocytopenia, Car... |
OMIM:251000 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Pallor, Palpitations, Tachycardia, Syncope |
ORPHA:324575 |
Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Petechiae, Hematemesis, Bruising susceptibility... |
ORPHA:274 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor, Tachycardia, Pancreatic islet-cell hyperplasia |
ORPHA:276608 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Elliptocytosis 1 |
|
Splenomegaly, Pallor, Hemolytic anemia, Elliptocytosis, Jaundice |
OMIM:611804 |
Thrombotic Thrombocytopenic Purpura |
|
Stroke, Arrhythmia, Myocardial infarction, Microangiopathic hemolytic anemia, Reticulocytosis, Th... |
ORPHA:54057 |
Essential Thrombocythemia |
|
Splenomegaly, Myocardial infarction, Abnormal platelet morphology, Abnormal cerebral vascular mor... |
ORPHA:3318 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Pallor, Hepatosplenomegaly, Heart murmur, Iron deficiency anemia, Diffuse alveolar ... |
ORPHA:99931 |
Dural Sinus Malformation |
|
Hydrocephalus, Stroke, Subdural hemorrhage, Cerebellar hemorrhage, Cerebral hemorrhage, Abnormal ... |
ORPHA:97339 |
Platelet Disorder, Undefined |
|
Abnormal bleeding, Thrombocytopenia, Impaired platelet aggregation, Prolonged bleeding time |
OMIM:173420 |
3-Methylglutaconic Aciduria Type 4 |
|
Decreased liver function, Thrombocytopenia, Cardiomyopathy |
ORPHA:67048 |
Wyburn-Mason Syndrome |
|
Arteriovenous malformation, Peripheral arteriovenous fistula, Cerebral hemorrhage, Subarachnoid h... |
ORPHA:53719 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Death in childhood, Elevated hepatic transaminase... |
OMIM:610333 |
Methanol Poisoning |
|
Permanent atrial fibrillation, Cerebral hemorrhage, Inflammatory arteriopathy, Intracranial hemor... |
ORPHA:31825 |
Non-Functioning Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:94080 |
Propionic Acidemia |
|
Pancreatitis, Hepatomegaly, Cerebellar hemorrhage, Pancytopenia, Neutropenia, Anemia, Thrombocyto... |
OMIM:606054 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor, Hypertrophic cardiomyopathy |
OMIM:612989 |
Rhabdoid Tumor |
|
Neoplasm of the liver, Internal hemorrhage, Hypertension, Anemia, Thrombocytopenia |
ORPHA:69077 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Jaundice |
OMIM:603552 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
High-output congestive heart failure, Venous varicosities of celiac and mesenteric vessels, Cereb... |
OMIM:610655 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Pancreatitis, Hepatomegaly, Stroke, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Cardiomy... |
ORPHA:79312 |
Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, High-output congestive heart failure, Splenomegaly, Extramedul... |
ORPHA:231226 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Subcutaneous hemorrhage, Pulmonary hemorrhage, Aortic regurgitation, Macrothrombocytopenia, Neutr... |
OMIM:603585 |
Capillary Malformation-Arteriovenous Malformation |
|
Hydrocephalus, High-output congestive heart failure, Arteriovenous malformation, Peripheral arter... |
ORPHA:137667 |
Osteopetrosis, Autosomal Recessive 4 |
|
Petechiae, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Anemia, Thrombocytopenia |
OMIM:611490 |
American Trypanosomiasis |
|
Hepatomegaly, Splenomegaly, Pallor, Arrhythmia, Myocarditis, Cardiomyopathy, Congestive heart fai... |
ORPHA:3386 |
Periventricular Nodular Heterotopia 1 |
|
Stroke, Patent ductus arteriosus, Cerebral hemorrhage |
OMIM:300049 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Melena, Telangiectasia of the skin, Miscarriage, Spinal arteriovenous malformation, Hemothorax, P... |
OMIM:187300 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Cerebral hemorrhage, Leukocytosis, ST segment depression, Cerebral ischemia, Syncope, Prolonged Q... |
ORPHA:90065 |
Primary Angiitis Of The Central Nervous System |
|
Cerebral vasculitis, Transient ischemic attack, Stroke, Intracranial hemorrhage |
ORPHA:140989 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Pallor, Poikilocytosis, Fava bean-induced... |
OMIM:300908 |
Systemic Lupus Erythematosus 17 |
|
Lymphopenia, Raynaud phenomenon, Mitral regurgitation, Leukopenia, Autoimmune thrombocytopenia, H... |
OMIM:301080 |
Thrombocytopenia, Paris-Trousseau Type |
|
Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time |
OMIM:188025 |
Relapsing Fever |
|
Neutrophilia, Leukocytosis, Abnormal bleeding, Leukopenia, Tachycardia, Epistaxis, Hypotension, E... |
ORPHA:91547 |
Beta-Thalassemia Major |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Anisopoikilocyt... |
ORPHA:231214 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Abnormal mast cell morphology, Hepatomegaly, Neutrophilia, Splenomegaly, Leukocytosis, Myeloproli... |
ORPHA:98849 |
X-Linked Lymphoproliferative Disease |
|
Hemophagocytosis, Hepatic failure, Aplastic anemia, B lymphocytopenia, Myocarditis, Increased pro... |
ORPHA:2442 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Cerebral hemorrhage, Moyamoya phenomenon, Dilated cardiomyopathy, Coronary artery atherosclerosis... |
ORPHA:280679 |
Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Abnormal mast cell morphology |
ORPHA:398189 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Abnormality of the hepatic vasculature, Hepatosplenomegaly, Nodular regenerative hyperplasia of l... |
ORPHA:210136 |
Refractory Anemia With Excess Blasts |
|
Anemia of inadequate production, Leukocytosis, Abnormal bleeding, Palpitations, Anemic pallor, Ab... |
ORPHA:86839 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Hypersplenism |
OMIM:610539 |
Retinitis Pigmentosa 70 |
|
Pallor |
OMIM:615922 |
Hermansky-Pudlak Syndrome 5 |
|
Bruising susceptibility, Menorrhagia, Impaired ADP-induced platelet aggregation, Absent platelet ... |
OMIM:614074 |
Letterer-Siwe Disease |
|
Pallor, Hepatosplenomegaly, Neutropenia, Anemia, Thrombocytopenia, Jaundice |
OMIM:246400 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Neutrophilia, Hemophagocytosis, Acute hepatic failure, Hepatosplenomegaly, Monocyto... |
OMIM:619644 |
Auditory Neuropathy And Optic Atrophy |
|
Pallor |
OMIM:617717 |
Cerebral Amyloid Angiopathy, App-Related |
|
Tortuous cerebral arteries, Stroke, Cerebellar hemorrhage, Recurrent cerebral hemorrhage, Cerebra... |
OMIM:605714 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Melena, Spinal arteriovenous malformation, Subarachnoid hemorrhage, Hematochezia, Lip telangiecta... |
OMIM:600376 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Decreased mean corpuscular volume, Pallor, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:611590 |
Eosinophilia, Familial |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
OMIM:131400 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Cold Agglutinin Disease |
|
Hemolytic anemia, Pallor, Hepatomegaly, Splenomegaly |
ORPHA:56425 |
Waldenström Macroglobulinemia |
|
Hepatomegaly, Stroke, Splenomegaly, Pallor, Normocytic anemia, Retinal hemorrhage, Vasculitis, Ab... |
ORPHA:33226 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Decreased liver function, Hepatomegaly, Arrhythmia, Acute pancreatitis, Elevated hepatic transami... |
ORPHA:26791 |
Anemia, Sideroblastic, 1 |
|
Anemia of inadequate production, Anemic pallor, Hypochromic microcytic anemia, Macrocytic anemia,... |
OMIM:300751 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Hypochromic anemia, Pallor, Pappenheimer bodies, Microcytic anemia, Sideroblastic anemia, Erythro... |
OMIM:600462 |
Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Petechiae, Hepatomegaly, Splenomegaly, Abnormal bleeding, Thrombocytopenia |
ORPHA:158029 |
Leigh Syndrome |
|
Hepatocellular necrosis |
OMIM:256000 |
Aregenerative Anemia |
|
Abnormal proportion of CD8-positive T cells, Neutropenia, Bruising susceptibility, Pallor, Abnorm... |
ORPHA:101096 |
Hellp Syndrome |
|
Cerebral hemorrhage, Hypotension, Hemolytic anemia, Elevated hepatic transaminase, Decreased mean... |
ORPHA:244242 |
Fibronectin Glomerulopathy |
|
Hypertension, Cerebral hemorrhage |
ORPHA:84090 |
Pontocerebellar Hypoplasia, Type 15 |
|
Anemia, Chronic neutropenia, Death in infancy, Thrombocytopenia |
OMIM:619302 |
Hemangioma-Thrombocytopenia Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia, Ventricular arrhythmia |
OMIM:141000 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Hepatic failure, Fulmin... |
OMIM:308240 |
Menkes Disease |
|
Death in childhood, Intracranial hemorrhage, Cutis laxa |
OMIM:309400 |
Dermatitis, Atopic |
|
Pallor, Dry skin, Facial erythema |
OMIM:603165 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatocellular necrosis, Decreased mean corpuscular volume, Microvesicular hepatic steatosis, Hep... |
OMIM:618278 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Jaundice, Neonatal death, Hepatic periportal necrosis, Hepatic steatosis |
OMIM:231680 |
Kaposiform Lymphangiomatosis |
|
Bruising susceptibility, Splenomegaly, Abnormal bleeding, Hepatosplenomegaly, Abnormal spleen mor... |
ORPHA:464329 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Decreased mean corpuscular volume, Pallor, Hepatosplenomegaly, Anisopoikilocytosis, Elevated hepa... |
ORPHA:300298 |
Myelofibrosis |
|
Pallor, Myeloproliferative disorder, Purpura, Splenomegaly |
OMIM:254450 |
Spontaneous Periodic Hypothermia |
|
Pallor, Arrhythmia |
ORPHA:29822 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... |
OMIM:603909 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cerebral hemorrhage, Moyamoya phenomenon, Dilated cardiomyopathy, Abnormal cerebral vascular morp... |
OMIM:300845 |
Extracranial Carotid Artery Aneurysm |
|
Stroke, Subarachnoid hemorrhage, Upper limb muscle weakness, Vasculitis, Cerebral ischemia, Total... |
ORPHA:494424 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Death in infancy, Thrombocytopenia |
OMIM:619301 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Hepatomegaly, Lymphopenia, Pallor, Hepatosplenomegaly, Eosinophilia, Abnor... |
ORPHA:331206 |
Sepsis In Premature Infants |
|
Decreased liver function, Petechiae, Hepatomegaly, Leukocytosis, Splenomegaly, Pallor, Abnormal b... |
ORPHA:90051 |
Gaucher Disease, Type Iii |
|
Hepatomegaly, Splenomegaly, Pancytopenia, Vascular calcification, Thrombocytopenia |
OMIM:231000 |
Gaucher Disease, Type I |
|
Hepatomegaly, Aortic valve stenosis, Splenomegaly, Mitral regurgitation, Pulmonary arterial hyper... |
OMIM:230800 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Epistaxis, Decreased mean platelet volume, Petechiae |
OMIM:273900 |
Stormorken Syndrome |
|
Abnormal bleeding, Anemia, Thrombocytopenia, Epistaxis, Stroke-like episode, Asplenia, Howell-Jol... |
OMIM:185070 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Pancreatitis, Hepatomegaly, Leukopenia, Macrocytic anemia, Anemia, Thrombocytopenia, Cardiomyopathy |
ORPHA:27 |
Retinitis Pigmentosa 27 |
|
Pallor |
OMIM:613750 |
Von Willebrand Disease, X-Linked Form |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:314560 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Stroke, Subarachnoid hemorrhage, Aortic dissection, Aortic root aneurysm, Transient ischemic atta... |
ORPHA:91387 |
Prothrombin Deficiency, Congenital |
|
Joint hemorrhage, Bruising susceptibility, Menorrhagia, Gingival bleeding, Ecchymosis, Gastrointe... |
OMIM:613679 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia |
ORPHA:169079 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:614727 |
Sengers Syndrome |
|
Thrombocytopenia, Hypertrophic cardiomyopathy |
OMIM:212350 |
Acute Promyelocytic Leukemia |
|
Petechiae, Leukocytosis, Bruising susceptibility, Abnormal bleeding, Diffuse alveolar hemorrhage,... |
ORPHA:520 |
Parkes Weber Syndrome |
|
Bounding pulse, High-output congestive heart failure, Arteriovenous malformation, Peripheral arte... |
ORPHA:90307 |
Crimean-Congo Hemorrhagic Fever |
|
Melena, Hemoperitoneum, Hepatomegaly, Neutrophilia, Hepatic failure, Hemothorax, Subdural hemorrh... |
ORPHA:99827 |
Diffuse Neonatal Hemangiomatosis |
|
Patent ductus arteriosus, Anemia, Thrombocytopenia, Hepatomegaly |
ORPHA:2123 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Transient ischemic attack, Stroke, Schistocytosis, Myocardial infarction, Prolonged neonatal jaun... |
OMIM:274150 |
Pearson Marrow-Pancreas Syndrome |
|
Hypoplastic anemia, Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, Sideroblastic a... |
OMIM:557000 |
Transaldolase Deficiency |
|
Telangiectasia, Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Splenomegaly, Cir... |
OMIM:606003 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Stroke, Arrhythmia, Thrombocytopenia, Cardiomyopathy, Thiamine-responsive m... |
OMIM:249270 |
Idiopathic Hypereosinophilic Syndrome |
|
Supraventricular arrhythmia, Pancreatitis, Neutrophilia, Vasculitis in the skin, Portal fibrosis,... |
ORPHA:3260 |
Mirage Syndrome |
|
Petechiae, Lymphopenia, Leukopenia, Intracranial hemorrhage, Patent ductus arteriosus, Hypoplasti... |
OMIM:617053 |
Retinitis Pigmentosa 73 |
|
Pallor |
OMIM:616544 |
Hypophosphatasia, Infantile |
|
Anemia, Stillbirth, Death in infancy, Intracranial hemorrhage |
OMIM:241500 |
Vascular Hyalinosis |
|
Subarachnoid hemorrhage, Vascular dilatation, Hematochezia |
OMIM:277175 |
Cyclic Vomiting Syndrome |
|
Pallor, Cardiomyopathy |
OMIM:500007 |
Wilson Disease |
|
Hepatomegaly, Bruising susceptibility, Splenomegaly, Acute hepatic failure, Cirrhosis, Anemia, Th... |
ORPHA:905 |
Tatsumi Factor Deficiency |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:272650 |
Aggressive Systemic Mastocytosis |
|
Decreased liver function, Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenom... |
ORPHA:98850 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Cardiac arrest, Lipid accumulation in hepatocytes, Hepatomegaly, Leukocytosis, Pallor, Leukopenia... |
ORPHA:20 |
Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly |
OMIM:615085 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormal biliary tract morphology, Abnormality of the pancreas, Abnormal liver parenchyma morphology |
ORPHA:3032 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Factor V Deficiency |
|
Bruising susceptibility, Abnormal bleeding, Menorrhagia, Epistaxis, Prolonged prothrombin time, P... |
OMIM:227400 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor, Death in childhood, Anemia, Hepatomegaly |
OMIM:246450 |
Fanconi Anemia, Complementation Group G |
|
Anemia, Thrombocytopenia, Leukemia, Neutropenia |
OMIM:614082 |
Familial Hyperaldosteronism Type Ii |
|
Hypertension, Intracranial hemorrhage, Epistaxis |
ORPHA:404 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Tachycardia, Pallor |
ORPHA:90036 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
Autoinflammation With Infantile Enterocolitis |
|
Splenomegaly, Diffuse alveolar hemorrhage, Pancytopenia, Anemia, Thrombocytopenia, Reduced natura... |
OMIM:616050 |
Aicardi-Goutieres Syndrome 5 |
|
Thrombocytopenia, Scaling skin, Dry skin |
OMIM:612952 |
Abeta Amyloidosis, Dutch Type |
|
Stroke, Cerebral hemorrhage, Death in early adulthood |
ORPHA:100006 |
Forsythe-Wakeling Syndrome |
|
Thrombocytopenia |
OMIM:613606 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Elevated hepatic transaminase, Anemia, Thrombocytopenia, Jaundice |
ORPHA:858 |
Acys Amyloidosis |
|
Stroke, Cerebral hemorrhage, Death in early adulthood |
ORPHA:100008 |
Noonan Syndrome 12 |
|
Thrombocytopenia, Lymphopenia, Tetralogy of Fallot, Supravalvular aortic stenosis |
OMIM:618624 |
Familial Hyperaldosteronism Type I |
|
Hypertension, Intracranial hemorrhage, Epistaxis |
ORPHA:403 |
Aspergillosis |
|
Stroke, Eosinophilia, Intracranial hemorrhage, Hepatitis, Neutropenia |
ORPHA:1163 |
Prolidase Deficiency |
|
Petechiae, Hepatomegaly, Diffuse telangiectasia, Splenomegaly, Elevated circulating aspartate ami... |
OMIM:170100 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Caroli Syndrome |
|
Melena, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Hepatic failure, Jaundice, Abnormal bleed... |
ORPHA:480520 |
Immunodeficiency 47 |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Tricuspid regurgitation, Cutis laxa, Splenomegal... |
OMIM:300972 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... |
OMIM:619041 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Congest... |
OMIM:171420 |
Hemorrhagic Fever-Renal Syndrome |
|
Melena, Petechiae, Hematemesis, Leukocytosis, Palpitations, Tachycardia, Intracranial hemorrhage,... |
ORPHA:340 |
Familial Hyperaldosteronism Type Iii |
|
Epistaxis, Hypertension, Intracranial hemorrhage, Prolonged QT interval |
ORPHA:251274 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Angina pectoris, Medial calcification of medium-sized arteries, Cerebral hemorrhage, Retinal hemo... |
OMIM:177850 |
Von Willebrand Disease, Type 1 |
|
Joint hemorrhage, Aortic valve stenosis, Persistent bleeding after trauma, Bruising susceptibilit... |
OMIM:193400 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto... |
OMIM:159550 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Increased hepatic glycogen content, Pallor, Tachycardia, Elevated hepatic transamin... |
ORPHA:263455 |
Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
Anemia, Sideroblastic, 5 |
|
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia |
OMIM:619523 |
Thrombocytopenia 1 |
|
Joint hemorrhage, Petechiae, Bruising susceptibility, Congenital thrombocytopenia, Decreased mean... |
OMIM:313900 |
Myoclonus, Intractable, Neonatal |
|
Pallor |
OMIM:617235 |
Neurocutaneous Melanocytosis |
|
Intracranial hemorrhage, Ventriculomegaly, Dandy-Walker malformation, Meningocele |
ORPHA:2481 |
Senior-Loken Syndrome 8 |
|
Intrahepatic bile duct dilatation, Pallor, Hepatic cysts, Vascular dilatation, Pancreatic cysts |
OMIM:616307 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Hepatosplenomegaly, Cerebral hemorrhage, B lymphocytopenia, Neutropenia |
OMIM:301081 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic valve stenosis, Mitral regurgitation, Intracranial hemorrhage, Aortic atherosclerotic lesi... |
ORPHA:363618 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Splenomegaly, Abnormal bleeding, Cirrhosis, Dry skin, Cholestasis, Elevated hepatic... |
OMIM:614576 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Decreased liver function, Hepatomegaly, Neonatal death, Cholestasis, Patent ductus arteriosus, De... |
OMIM:608104 |
Bone Marrow Failure Syndrome 4 |
|
Anemia, Thrombocytopenia, Dry skin, Leukopenia |
OMIM:618116 |
Bone Marrow Failure Syndrome 2 |
|
Anemia, Leukopenia, Thrombocytopenia |
OMIM:615715 |
Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Abnormal bleeding, Thrombocytopenia |
OMIM:314000 |
Bleeding Disorder, Platelet-Type, 21 |
|
Impaired platelet aggregation, Menorrhagia, Thrombocytopenia |
OMIM:617443 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:613101 |
Congenital Enterovirus Infection |
|
Leukocytosis, Hepatic failure, Abnormal bleeding, Leukopenia, Cholestasis, Abnormal macrophage mo... |
ORPHA:292 |
Folate Malabsorption, Hereditary |
|
Leukopenia, Thrombocytopenia, Folate-responsive megaloblastic anemia, Neutropenia |
OMIM:229050 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Cerebral vasculitis, Eosinophilia, Subarachnoid hemorrhage, Decreased proportion of CD4-positive ... |
OMIM:243700 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Neutropenia, Hemophagocytosis, Splenomegaly, Hepatic failure, Hepatosplenomegaly, Hepatocellular ... |
ORPHA:158057 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Anemia, Thrombocytopenia, Death in infancy |
OMIM:614946 |
Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
Malaria |
|
Anemia, Thrombocytopenia |
ORPHA:673 |
Blue Rubber Bleb Nevus |
|
Intestinal bleeding, Thrombocytopenia, Abnormality of the liver, Iron deficiency anemia |
OMIM:112200 |
Irida Syndrome |
|
Pallor, Intrahepatic cholestasis |
ORPHA:209981 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Chronic Myeloid Leukemia |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... |
ORPHA:521 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
Sitosterolemia 1 |
|
Episodic hemolytic anemia, Splenomegaly, Abnormal bleeding, Coronary artery atherosclerosis, Reti... |
OMIM:210250 |
Rheumatic Fever |
|
Pallor, Erythema, Arrhythmia, Myocarditis, Pericarditis, Epistaxis |
ORPHA:3099 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:276621 |
Tufted Angioma |
|
Purpura, Anemia, Thrombocytopenia, Petechiae |
ORPHA:1063 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Leukocytosis, Pallor, Hypotension, Thrombocytosis, Hypertension |
ORPHA:134 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Decreased liver function, Cholestatic liver disease, Hepatomegaly, Petechiae, Hemophagocytosis, S... |
ORPHA:540 |
Transcobalamin Deficiency |
|
Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia |
ORPHA:859 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Intracranial hemorrhage, Second degree atrioventricular block, Hypertension, Pulmonary arterial h... |
ORPHA:369929 |
Fanconi Anemia, Complementation Group T |
|
Anemia, Thrombocytopenia, Pancytopenia |
OMIM:616435 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Anemia, Thrombocytopenia, Jaundice |
ORPHA:290 |
Hereditary Folate Malabsorption |
|
Megaloblastic anemia, Pallor, Eosinophilia, Pancytopenia, Thrombocytopenia |
ORPHA:90045 |
Boutonneuse Fever |
|
Petechiae, Leukopenia, Vasculitis, Elevated hepatic transaminase, Thrombocytopenia |
ORPHA:83313 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Pancreatitis, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia |
ORPHA:289916 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Thrombocytopenia |
OMIM:615008 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Hepatosplenomegaly, Pulmonary hemorrhage, T lymphocytopenia, Elevated hepatic trans... |
ORPHA:79124 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD4:CD8 rat... |
OMIM:150550 |
Gaucher Disease, Type Ii |
|
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly |
OMIM:230900 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Abnormal T-wave, Palpitations, Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:231625 |
Rare Circulatory System Disease |
|
Intermittent claudication, Arterial calcification, Pallor, Arterial tortuosity, Abnormal systemic... |
ORPHA:98028 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Bruising susceptibility, Splenomegaly, Cirrhosis, Leukopenia, Biliary tract obstruc... |
ORPHA:77259 |
Thrombocytopenia 6 |
|
Abnormal bleeding, Spontaneous, recurrent epistaxis, Thrombocytopenia |
OMIM:616937 |
Ebola Hemorrhagic Fever |
|
Melena, Lymphopenia, Abnormal bleeding, Leukopenia, Acute pancreatitis, Hepatitis, Gastrointestin... |
ORPHA:319218 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Pallor |
OMIM:608423 |
Wt Limb-Blood Syndrome |
|
Hypoplastic anemia, Thrombocytopenia, Leukemia, Pancytopenia |
OMIM:194350 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Decreased proportion of CD4-... |
OMIM:613011 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Stroke, Hepatic arteriovenous malformation, Mitral regurgitation, Pulmonary arteriovenous malform... |
OMIM:175050 |
Specific Granule Deficiency 2 |
|
Death in childhood, Death in infancy, Neutropenia, Anemia, Thrombocytopenia, Absent neutrophil sp... |
OMIM:617475 |
Hermansky-Pudlak Syndrome 9 |
|
Abnormal platelet aggregation, Leukopenia, Thrombocytopenia |
OMIM:614171 |
Drug-Induced Lupus Erythematosus |
|
Petechiae, Prolonged QTc interval, Pericarditis, Anemia, Thrombocytopenia |
ORPHA:231111 |
Aicardi-Goutieres Syndrome 1 |
|
Petechiae, Hepatomegaly, Splenomegaly, Erythema, Vasculitis, Elevated hepatic transaminase, Purpu... |
OMIM:225750 |
Isolated Agammaglobulinemia |
|
Abnormal lymphocyte morphology, Abnormality of neutrophils, Skin ulcer, Anemia, Thrombocytopenia |
ORPHA:229717 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Lipid accumulation in hepatocytes, Hepatomegaly, Hepatic calcification, Elevated circulating aspa... |
OMIM:608836 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Abnormal left ventricular function, Stroke, Polycythemia, Pallor, Palpi... |
ORPHA:892 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Pallor, Tachycardia, Elevated hepatic transaminase, Hepatic steatosis |
ORPHA:348 |
Classic Homocystinuria |
|
Arteriovenous malformation, Hepatomegaly, Subcutaneous hemorrhage, Intracranial hemorrhage, Pulmo... |
ORPHA:394 |
Omenn Syndrome |
|
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... |
OMIM:603554 |
Schimke Immuno-Osseous Dysplasia |
|
Transient ischemic attack, Pancreatitis, Lymphopenia, Stroke, Arteriosclerosis of small cerebral ... |
ORPHA:1830 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Death in childhood, Intraventricular hemorrhage, Death in adolescence, Neonatal death, Death in i... |
OMIM:619055 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Leukopenia, Thrombocytopenia, Pericarditis |
OMIM:152700 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Thrombocytopenia, Bradycardia, Persistent left superior vena cava, Hypertrophic c... |
OMIM:618775 |
Shwachman-Diamond Syndrome 2 |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Death in childhood, Hyperechogenic pancreas, Nor... |
OMIM:617941 |
Hermansky-Pudlak Syndrome 6 |
|
Bruising susceptibility, Abnormal bleeding, Prolonged bleeding time, Impaired ADP-induced platele... |
OMIM:614075 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Hepatomegaly, Pallor, Tachycardia, ... |
ORPHA:137675 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Abnormal bleeding, Anemia, Anemic pallor, Hematochezia |
ORPHA:329971 |
Aplasia Cutis Congenita |
|
Facial palsy, Spinal dysraphism, Prolonged bleeding time |
ORPHA:1114 |
Chediak-Higashi Syndrome |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Bruising susceptibility, Abnormal dense granules, L... |
OMIM:214500 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Coarctation of aorta, Thrombocytopenia, Patent ductus arteriosus, Neutropenia, Pulmonary arterial... |
OMIM:614857 |
Adams-Oliver Syndrome |
|
Arteriovenous malformation, Cirrhosis, Leukopenia, Tetralogy of Fallot, Congenital hepatic fibros... |
ORPHA:974 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Megaloblastic anemia, Thrombocytopenia |
OMIM:601815 |
Cerebral Visual Impairment |
|
Hydrocephalus, Ischemic stroke, Intracranial hemorrhage |
ORPHA:447788 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
Klippel-Trénaunay Syndrome |
|
Peripheral arteriovenous fistula, Pulmonary embolism, Prolonged bleeding time, Patent ductus arte... |
ORPHA:90308 |
Macrophage Activation Syndrome |
|
Decreased liver function, Neutropenia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Elevated cir... |
ORPHA:158061 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Pyoderma gangrenosum |
OMIM:616576 |
Kasabach-Merritt Syndrome |
|
Petechiae, Leukopenia, Reticulocytosis, Hepatic hemangioma, Abnormal lymphatic vessel morphology,... |
ORPHA:2330 |
Pediatric-Onset Graves Disease |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, Palpitations, A... |
ORPHA:525731 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Splenomegaly, Subarachnoid he... |
OMIM:232300 |
Fumarase Deficiency |
|
Polycythemia, Pallor, Cholestasis, Hepatic failure |
OMIM:606812 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Megaloblastic anemia, Intraventricular hemorrhage, Reduced number of intrahepatic bile ducts, Neu... |
ORPHA:79284 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased mean corpuscular volume, Pallor, Anisocytosis, Poikilocytosis, Elliptocytosis, Anemia |
OMIM:616959 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Intracranial hemorrhage, Heart murmur, Absent gallbladder, Interrupted aortic arch, Patent ductus... |
ORPHA:163979 |
Immunodeficiency 97 With Autoinflammation |
|
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... |
OMIM:619802 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Cerebral vasculitis, Thrombocytopenia, Leukocytosis |
ORPHA:83601 |
Wolfram Syndrome, Mitochondrial Form |
|
Thrombocytopenia, Megaloblastic anemia, Sideroblastic anemia, Neutropenia |
OMIM:598500 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Petechiae, Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia, Purpura |
OMIM:605432 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Subcutaneous hemorrhage, Pulmonary embolism, Purpura, Abnormal cerebral vascular morphology, Skin... |
ORPHA:743 |
Cog4-Cdg |
|
Cirrhosis, Hepatosplenomegaly, Elevated hepatic transaminase, Fatal liver failure in infancy, Thr... |
ORPHA:263501 |
Amed Syndrome, Digenic |
|
Anemia, Leukopenia, Persistent left superior vena cava, Thrombocytopenia, Acute myeloid leukemia |
OMIM:619151 |
Pseudo-Torch Syndrome 1 |
|
Decreased liver function, Petechiae, Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, P... |
OMIM:251290 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Vasculitis, Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume |
OMIM:617718 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:29072 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Cholestatic liver disease, Giant cell hepatitis, Intrahepatic biliary atresia, Abnormal bleeding,... |
OMIM:208085 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia |
OMIM:616738 |
Pheochromocytoma |
|
Renal artery stenosis, Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodi... |
OMIM:171300 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
Cocaine Intoxication |
|
Supraventricular arrhythmia, Prolonged QRS complex, Cerebral hemorrhage, Diffuse alveolar hemorrh... |
ORPHA:90068 |
Q Fever |
|
Abnormal left ventricular function, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Myocarditis, ... |
ORPHA:781 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Leukopenia, Death in childhood, Macroves... |
OMIM:617303 |
Immunodeficiency 46 |
|
Anemia, Intermittent thrombocytopenia, Neutropenia |
OMIM:616740 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Cirrhosis, Thrombocytopenia, Pancytopenia |
OMIM:613987 |
Schimke Immunoosseous Dysplasia |
|
Transient ischemic attack, Lymphopenia, Stroke, Cerebral ischemia, Thrombocytopenia, Pancytopenia... |
OMIM:242900 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Autoimmu... |
ORPHA:100026 |
Griscelli Syndrome |
|
Hepatomegaly, Splenomegaly, Leukopenia, Abnormality of neutrophils, Hepatitis, Thrombocytopenia, ... |
ORPHA:381 |
Menkes Disease |
|
Spontaneous hematomas, Abnormal carotid artery morphology, Intracranial hemorrhage, Dry skin, Vas... |
ORPHA:565 |
Avian Influenza |
|
Miscarriage, Lymphopenia, Leukopenia, Elevated hepatic transaminase, Hepatitis, Thrombocytopenia,... |
ORPHA:454836 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Angina pectoris, Arteriovenous malformation, Subcutaneous hemorrhage, Intracranial hemorrhage, Ao... |
ORPHA:109 |
Thyrocerebrorenal Syndrome |
|
Thrombocytopenia |
ORPHA:3327 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Thrombocytopenia, Lymphopenia |
OMIM:616744 |
Necrotizing Enterocolitis |
|
Leukocytosis, Peritonitis, Hypotension, Shock, Neutropenia, Thrombocytopenia, Bradycardia |
ORPHA:391673 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Lymphopenia, Tricuspid regurgitation, Leukopenia, Dry skin, B lymphocytopenia, Noncompaction card... |
ORPHA:508542 |
Citrullinemia, Type Ii, Adult-Onset |
|
Pancreatitis, Hepatocellular carcinoma, Elevated circulating alanine aminotransferase concentrati... |
OMIM:603471 |
3-Methylglutaconic Aciduria, Type Viib |
|
Abnormal bleeding, Leukopenia, Neutropenia, Thrombocytopenia, Hepatic steatosis, Prolonged prothr... |
OMIM:616271 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Leukopenia, Aplastic anemia, Pancytopenia, Dilated cardiomyopathy, Hepatic fibrosis, Neutropenia,... |
OMIM:613989 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Thrombocytopenia |
OMIM:254900 |
Rift Valley Fever |
|
Melena, Miscarriage, Hematemesis, Abnormal bleeding, Retinal hemorrhage, Elevated hepatic transam... |
ORPHA:319251 |
Wiskott-Aldrich Syndrome |
|
Melena, Petechiae, Lymphopenia, Hematemesis, Eosinophilia, Decreased mean platelet volume, Absent... |
OMIM:301000 |
Felty Syndrome |
|
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Pericarditis, Neutropenia, Anemia, Th... |
ORPHA:47612 |
Hermansky-Pudlak Syndrome 2 |
|
Enlarged platelet dense granules, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Thrombocytopeni... |
OMIM:608233 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Lymphopenia, Absent microvilli on the surface of peripheral blood lymphocytes, Decreased mean pla... |
OMIM:600903 |
Blue Rubber Bleb Nevus |
|
Arteriovenous malformation, Intestinal bleeding, Prolonged bleeding time |
ORPHA:1059 |
X-Linked Agammaglobulinemia |
|
Hepatitis, Neutropenia, Skin ulcer, Anemia, Thrombocytopenia |
ORPHA:47 |
Wolfram Syndrome 1 |
|
Megaloblastic anemia, Thrombocytopenia, Cardiomyopathy, Sideroblastic anemia, Stroke-like episode |
OMIM:222300 |
Myopathic Ehlers-Danlos Syndrome |
|
Pallor |
ORPHA:536516 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Lymphopenia, Splenomegaly, Pulmonic stenosis, Mitral regurgitation, Hepatosplenomeg... |
OMIM:612541 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Megaloblastic anemia, Stroke, Subdural hemorrhage, Pulmonary embolism, Pulmonary arterial hyperte... |
ORPHA:79282 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Death in childhood, Thrombocytopenia |
OMIM:615597 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Double outlet right ventricle, Abnormal left ventricular function, Hepatomegaly, Pulmonic stenosi... |
OMIM:301056 |
Lig4 Syndrome |
|
Telangiectasia, Thrombocytopenia, Pancytopenia |
OMIM:606593 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hepatitis, Neutropen... |
OMIM:304790 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Neutropenia, A... |
OMIM:301078 |
Fanconi Anemia, Complementation Group E |
|
Bruising susceptibility, Anemic pallor, Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leuk... |
OMIM:600901 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Leukopenia, Elevated hepatic tr... |
OMIM:603553 |
Tularemia |
|
Anemia, Thrombocytopenia, Tachycardia, Leukocytosis |
ORPHA:3392 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Schistocytosis, Purpura, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Hy... |
OMIM:235400 |
Lujo Hemorrhagic Fever |
|
Lymphopenia, Excessive bleeding after a venipuncture, Leukocytosis, Leukopenia, Fulminant hepatit... |
ORPHA:319213 |
Arteriovenous Malformations Of The Brain |
|
Cerebral arteriovenous malformation |
OMIM:108010 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia, Hypertension |
OMIM:612922 |
Yellow Fever |
|
Supraventricular arrhythmia, Neutrophilia, Leukocytosis, Hematemesis, Abnormal bleeding, Pancreat... |
ORPHA:99829 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia, Hypertension |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia, Hypertension |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia, Hypertension |
OMIM:612926 |
Overlap Myositis |
|
Raynaud phenomenon, Leukopenia, Elevated hepatic transaminase, Pulmonary arterial hypertension, H... |
ORPHA:206572 |
Osteogenesis Imperfecta, Type Xvii |
|
Intraventricular hemorrhage, Decreased muscle mass |
OMIM:616507 |
Bacterial Toxic-Shock Syndrome |
|
Increased circulating myelocyte count, Peritonitis, Tachycardia, Myocarditis, Hypotension, Hepati... |
ORPHA:36234 |
Plummer-Vinson Syndrome |
|
Pallor, Hypochromic microcytic anemia, Iron deficiency anemia |
ORPHA:54028 |
Porphyria Cutanea Tarda |
|
Viral hepatitis, Periportal fibrosis, Chronic hepatitis, Hepatocellular carcinoma, Abnormal eryth... |
ORPHA:101330 |
Diamond-Blackfan Anemia 1 |
|
Congestive heart failure, Congenital hypoplastic anemia, Tricuspid stenosis, Pallor, Coarctation ... |
OMIM:105650 |
Fanconi Anemia, Complementation Group A |
|
Bruising susceptibility, Anemic pallor, Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leuk... |
OMIM:227650 |
Osteopetrosis, Autosomal Recessive 2 |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Anemia, Thrombocytopenia |
OMIM:259710 |
Blackfan-Diamond Anemia |
|
Increased mean corpuscular volume, Neutropenia, Persistence of hemoglobin F, Pallor, Leukopenia, ... |
ORPHA:124 |
Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Leukopenia, Anemia, Thrombocytopenia, Jaundice, Pro... |
OMIM:267700 |
Gaucher Disease, Perinatal Lethal |
|
Petechiae, Hepatomegaly, Splenomegaly, Hepatic failure, Hepatosplenomegaly, Neonatal death, Purpu... |
OMIM:608013 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Increased mean platelet volume, Thrombocytopenia, Patent ductus arteriosus |
OMIM:300048 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pulmonary arterial hypertension, Anemia, Thrombocytopenia, Leukopenia |
OMIM:613845 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Subdural hemorrhage, Retinal hemorrhage, Ventriculomegaly, Communicating hydrocephalus |
ORPHA:25 |
Alg8-Cdg |
|
Cutis laxa, Elevated hepatic transaminase, Premature skin wrinkling, Anemia, Thrombocytopenia |
ORPHA:79325 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia, Hypertension |
OMIM:612925 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Carotid artery dilatation, Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Ren... |
ORPHA:391487 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Decreased liver function, Neutropenia, Vacuolated lymphocytes, Abn... |
ORPHA:167 |
Marburg Hemorrhagic Fever |
|
Pancreatitis, Pericarditis, Reticulocytosis, Jaundice, Abnormal bleeding, Tachycardia, Elevated h... |
ORPHA:99826 |
Zika Virus Disease |
|
Thrombocytopenia, Miscarriage, Subcutaneous hemorrhage |
ORPHA:448237 |
Diffuse Alveolar Hemorrhage |
|
Anemia, Thrombocytopenia, Leukocytosis, Pulmonary venous hypertension |
ORPHA:90060 |
Fanconi Anemia, Complementation Group I |
|
Pallor, Neutropenia |
OMIM:609053 |
Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Neutropenia, ... |
OMIM:169400 |
Shwachman-Diamond Syndrome 1 |
|
Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, Persistence of hemoglobin F, Myocar... |
OMIM:260400 |
Thyrocerebroretinal Syndrome |
|
Thrombocytopenia |
OMIM:274240 |
Kcnq2-Related Epileptic Encephalopathy |
|
Facial erythema, Pallor |
ORPHA:439218 |
Toxic Epidermal Necrolysis |
|
Pancreatitis, Acute hepatic failure, Sudden cardiac death, Erythema, Elevated hepatic transaminas... |
ORPHA:537 |
Cone-Rod Dystrophy 8 |
|
Pallor, Retinal arteriolar constriction |
OMIM:605549 |
Hardikar Syndrome |
|
Hepatomegaly, Hepatic failure, Cholestasis, Prolonged neonatal jaundice, Bile duct proliferation,... |
OMIM:301068 |
Lysinuric Protein Intolerance |
|
Pancreatitis, Hepatomegaly, Hemophagocytosis, Splenomegaly, Cutis laxa, Leukopenia, Pulmonary hem... |
OMIM:222700 |
Stevens-Johnson Syndrome |
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Pancreatitis, Acute hepatic failure, Sudden cardiac death, Erythema, Elevated hepatic transaminas... |
ORPHA:36426 |
Tay-Sachs Disease |
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Pallor, Cherry red spot of the macula |
OMIM:272800 |
Phace Syndrome |
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Abnormal carotid artery morphology, Coarctation of aorta, Tetralogy of Fallot, Abnormal cerebral ... |
ORPHA:42775 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Hepatomegaly, Splenomegaly, Cirrhosis, Chronic hepatitis, Sclerosing cholangitis, Hemolytic anemi... |
OMIM:308230 |
Congenital Disorder Of Glycosylation, Type Iig |
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Anemia, Thrombocytopenia |
OMIM:611209 |
Pituitary Apoplexy |
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Pallor, Hypertension, Normochromic anemia, Hypotension |
ORPHA:95613 |
Storage Pool Platelet Disease |
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Abnormal bleeding, Acute leukemia, Decreased mean platelet volume, Prolonged bleeding time |
OMIM:185050 |
Cockayne Syndrome Type 3 |
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Hepatomegaly, Subdural hemorrhage, Stroke, Splenomegaly, Premature coronary artery atherosclerosi... |
ORPHA:90324 |
Sheehan Syndrome |
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Pallor, Orthostatic hypotension, Palpitations, Dry skin, Normochromic anemia, Bradycardia |
ORPHA:91355 |