Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

protein S (alpha)
protein S

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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.

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 Pros1 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.

The table below shows human diseases associated to Pros1 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Cerebral hemorrhage OMIM:614514
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Subcutaneous hemorrhage, Pulmonary embolism, Purpura, Abnormal cerebral vascular morphology, Skin... ORPHA:743
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Purpura, Pulmonary embolism OMIM:612336

The table below shows human diseases predicted to be associated to Pros1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
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
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
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
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
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
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
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
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
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
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
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
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
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
Pancreatitis, Acute hepatic failure, Sudden cardiac death, Erythema, Elevated hepatic transaminas... ORPHA:36426
Tay-Sachs Disease
Pallor, Cherry red spot of the macula OMIM:272800
Phace Syndrome
Abnormal carotid artery morphology, Coarctation of aorta, Tetralogy of Fallot, Abnormal cerebral ... ORPHA:42775
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Chronic hepatitis, Sclerosing cholangitis, Hemolytic anemi... OMIM:308230
Congenital Disorder Of Glycosylation, Type Iig
Anemia, Thrombocytopenia OMIM:611209
Pituitary Apoplexy
Pallor, Hypertension, Normochromic anemia, Hypotension ORPHA:95613
Storage Pool Platelet Disease
Abnormal bleeding, Acute leukemia, Decreased mean platelet volume, Prolonged bleeding time OMIM:185050
Cockayne Syndrome Type 3
Hepatomegaly, Subdural hemorrhage, Stroke, Splenomegaly, Premature coronary artery atherosclerosi... ORPHA:90324
Sheehan Syndrome
Pallor, Orthostatic hypotension, Palpitations, Dry skin, Normochromic anemia, Bradycardia ORPHA:91355