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Gene: Pros1 MGI:1095733

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
protein S (alpha)
Synonyms:
protein S

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
+173470 integrin, beta-3
Impaired platelet aggregation, Abnormal bleeding, Neonatal alloimmune thrombocytopenia, Gastroint... OMIM:173470
Glanzmann Thrombasthenia 1
Impaired platelet aggregation, Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, Int... OMIM:273800
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Hepatomegaly, Anemia, Splenomegaly, Pallor ORPHA:46532
Acute Peripheral Arterial Occlusion
Leukocytosis, Abnormal capillary physiology, Stroke, Myocardial infarction, Supraventricular tach... ORPHA:90064
Cerebral Cavernous Malformations
Hepatic vascular malformations, Intracranial hemorrhage OMIM:116860
Moyamoya Disease With Early-Onset Achalasia
Moyamoya phenomenon, Abnormal platelet aggregation, Hypertension, Stroke, Thrombocytopenia, Abnor... ORPHA:401945
Bernard-Soulier Syndrome
Prolonged bleeding after surgery, Abnormal bleeding, Prolonged bleeding time, Gastrointestinal he... OMIM:231200
Internal Carotid Absence
Subarachnoid hemorrhage, Dilatation of the cerebral artery, Cerebral ischemia ORPHA:981
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Purpura, Epistaxis, Thrombocytopenia, Petechiae, Cerebral hemorrhage... ORPHA:3002
Platelet Signal Processing Defect
Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platel... OMIM:173590
Aneurysm, Intracranial Berry, 12
Subarachnoid hemorrhage, Cerebral berry aneurysm, Fusiform cerebral aneurysm OMIM:618734
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Gastrointestinal hemorrhage, Leukocytosis, Budd-Chiari synd... OMIM:263300
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Thrombocytopenia 7
Reduced platelet alpha granules, Post-partum hemorrhage, Impaired ADP-induced platelet aggregatio... OMIM:619130
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal h... ORPHA:231393
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Thrombocytopenia, Myocardial infarction, L... OMIM:155100
Acquired Idiopathic Sideroblastic Anemia
Abnormal bleeding, Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutr... ORPHA:75564
Congenital Factor Ii Deficiency
Cephalohematoma, Abnormal bleeding, Joint hemorrhage, Prolonged prothrombin time, Intracranial he... ORPHA:325
Evans Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Bruising susceptibility, Epistaxis, Neu... ORPHA:1959
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Prolonged bleeding time, Intracranial hemorrhage, Leukocytosis, Brui... ORPHA:3226
Acquired Purpura Fulminans
Internal hemorrhage, Intracranial hemorrhage, Thrombocytopenia, Macular purpura, Pyoderma gangren... ORPHA:49566
Thrombocytopenia With Beta-Thalassemia, X-Linked
Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Epistaxis, Thrombocytopenia, Petechia... OMIM:314050
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia, Abnormal bleeding OMIM:188030
Gray Platelet Syndrome
Abnormal bleeding, Epistaxis, Thrombocytopenia, Splenomegaly, Abnormal thrombocyte morphology, Br... ORPHA:721
Acute Myelomonocytic Leukemia
Abnormal bleeding, Leukocytosis, Thrombocytopenia, Anemia, Pallor, Eosinophilia ORPHA:517
Preeclampsia/Eclampsia 1
Thrombocytopenia, Elevated hepatic transaminase, Hypertension OMIM:189800
Familial Cervical Artery Dissection
Recurrent cerebral hemorrhage, Subarachnoid hemorrhage, Hypertension, Stroke, Dilatation of the c... ORPHA:36382
Sebastian syndrome
Prolonged bleeding time, Epistaxis, Thrombocytopenia, Leukocyte inclusion bodies, Giant platelets... OMIM:605249
Fetal And Neonatal Alloimmune Thrombocytopenia
Cephalohematoma, Abnormal bleeding, Gastrointestinal hemorrhage, Purpura, Intracranial hemorrhage... ORPHA:853
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Abnormal bleeding, Macrothrombocytopenia, Thrombocytopenia, Petech... OMIM:187800
Thrombocytopenia 2
Thrombocytopenia, Bruising susceptibility OMIM:188000
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia, Bruising susceptibility OMIM:614200
Fetal Gaucher Disease
Stillbirth, Intracranial hemorrhage, Death in infancy, Hepatomegaly, Pancytopenia, Thrombocytopen... ORPHA:85212
Hemochromatosis, Neonatal
Abnormal bleeding, Cirrhosis, Hepatocellular necrosis, Cholestasis, Hepatic fibrosis, Prolonged n... OMIM:231100
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Subcutaneous hemorrhage, Thrombocytopenia, Abnormality of the liver ORPHA:1980
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Hepatomegaly, Thrombocytopenia, Hepatitis, Abnormal hemoglobin... ORPHA:848
Macrothrombocytopenia and progressive sensorineural deafness
Abnormal bleeding, Prolonged bleeding time, Macrothrombocytopenia, Thrombocytopenia, Giant platel... OMIM:600208
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Hepatomegaly, Anemia, Splenomegaly, Decreased mean corpuscular volume, Pallor, Poiki... OMIM:615234
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemia of inadequat... OMIM:615631
Cerebral Amyloid Angiopathy, Cst3-Related
Intracranial hemorrhage, Cerebral hemorrhage, Stroke OMIM:105150
Bleeding Disorder, Platelet-Type, 24
Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platel... OMIM:619271
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Megaloblastic anemia, Stroke, Thrombocytopenia, Congestive heart f... ORPHA:49827
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Abnormal bleeding, Prolonged bleeding time, Giant platelets OMIM:608404
Cerebral Cavernous Malformations 2
Cerebral hemorrhage, Cerebral cavernous malformation, Telangiectasia, Stroke OMIM:603284
Congenital Factor Xiii Deficiency
Prolonged bleeding after surgery, Persistent bleeding after trauma, Myeloid leukemia, Joint hemor... ORPHA:331
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Prolonged bleeding after dental extraction, Thrombocytopenia, Giant ... OMIM:137560
Circumvallate Placenta Syndrome
Intracranial hemorrhage OMIM:215550
Thrombocytopenia, Cyclic
Thrombocytopenia, Abnormal bleeding, Neutropenia, Cyclic neutropenia OMIM:188020
Brain Small Vessel Disease 2
Porencephalic cyst, Intracranial hemorrhage, Ventriculomegaly, Polymicrogyria, Schizencephaly OMIM:614483
Abetal34V Amyloidosis
Cerebral hemorrhage, Abnormal cerebral vascular morphology, Stroke ORPHA:324703
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia, Hypertension OMIM:166990
Dengue Fever
Gastrointestinal hemorrhage, Hypotension, Epistaxis, Hepatomegaly, Thrombocytopenia, Petechiae, C... ORPHA:99828
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia, Menorrhagia, Bruising susceptibility, Epistaxis OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia, Menorrhagia, Bruising susceptibility, Epistaxis OMIM:613554
Hemophilia A
Joint hemorrhage, Intraventricular hemorrhage, Gastrointestinal hemorrhage, Splenic rupture, Intr... ORPHA:98878
Von Willebrand Disease, Type 3
Persistent bleeding after trauma, Abnormal bleeding, Prolonged bleeding after surgery, Impaired p... OMIM:277480
Factor Xiii, A Subunit, Deficiency Of
Abnormal bleeding, Joint hemorrhage, Intracranial hemorrhage, Spontaneous hematomas, Epistaxis, B... OMIM:613225
Autoimmune Hemolytic Anemia, Cold Type
Hemolytic anemia, Abnormal leukocyte morphology, Pallor, Splenomegaly ORPHA:228312
Retinohepatoendocrinologic Syndrome
Degenerative liver disease, Pallor OMIM:268040
Congenital Factor V Deficiency
Persistent bleeding after trauma, Prolonged bleeding after surgery, Joint hemorrhage, Gastrointes... ORPHA:326
Congenital Factor Vii Deficiency
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Intracranial hem... ORPHA:327
Erythrocytosis, Familial, 1
Increased hematocrit, Increased hemoglobin, Hypertension, Increased red blood cell mass, Myocardi... OMIM:133100
Snakebite Envenomation
Cardiogenic shock, Abnormal bleeding, Intracranial hemorrhage, Hypotension, Epistaxis, Erythema, ... ORPHA:449285
Hemophilia B
Cephalohematoma, Prolonged bleeding after surgery, Joint hemorrhage, Prolonged bleeding time, Int... ORPHA:98879
African Iron Overload
Peritonitis, Micronodular cirrhosis, Viral hepatitis, Hepatic steatosis, Hepatocellular carcinoma... ORPHA:139507
Glanzmann Thrombasthenia 2
Prolonged bleeding after surgery, Prolonged bleeding time, Prolonged bleeding after dental extrac... OMIM:619267
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... OMIM:251880
Bleeding Disorder, Platelet-Type, 17
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Thrombocytope... OMIM:187900
Hb Bart'S Hydrops Fetalis
Pericarditis, Hepatomegaly, Abnormal hemoglobin, Congestive heart failure, Anemia, Splenomegaly, ... ORPHA:163596
Primary Myelofibrosis
Poikilocytosis, Abnormal bleeding, Thrombocytosis, Purpura, Leukocytosis, Extramedullary hematopo... ORPHA:824
Thrombocytopenia 5
Epistaxis, Neutropenia, Thrombocytopenia, Petechiae, Anemia, Bruising susceptibility OMIM:616216
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Pulmonary embolism, Cerebral hemorrhage, Purpura OMIM:614514
Severe Hemophilia A
Cephalohematoma, Prolonged bleeding after surgery, Persistent bleeding after trauma, Joint hemorr... ORPHA:169802
Bleeding Disorder, Platelet-Type, 19
Abnormal bleeding, Spontaneous hematomas, Epistaxis, Macrothrombocytopenia, Menorrhagia, Anemia OMIM:616176
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Thrombocytopenia, Hepatosplenomegaly, Anemia OMIM:610539
Gray Platelet Syndrome
Abnormal bleeding, Prolonged bleeding time, Abnormal number of alpha granules, Impaired thrombin-... OMIM:139090
Factor X Deficiency
Joint hemorrhage, Intracranial hemorrhage, Intramuscular hematoma, Epistaxis, Menorrhagia, Gingiv... OMIM:227600
Slc35A1-Cdg
Abnormal bleeding, Pulmonary hemorrhage, Prolonged bleeding time, Neutropenia, Thrombocytopenia, ... ORPHA:238459
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Methanol Poisoning
Basal ganglia necrosis, Bilateral basal ganglia lesions, Abnormal caudate nucleus morphology, Int... ORPHA:31825
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Hepatomegaly, Jaundice, Thrombocytopenia, Pancytopenia, Pallor OMIM:613839
Pseudo-Torch Syndrome 2
Elevated hepatic transaminase, Patent ductus arteriosus, Hepatomegaly, Thrombocytopenia, Petechia... OMIM:617397
Congenital Factor X Deficiency
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Prolonged bleedi... ORPHA:328
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Reversible Cerebral Vasoconstriction Syndrome
Abnormal bleeding, Ischemic stroke, Intraventricular hemorrhage, Subarachnoid hemorrhage, Subdura... ORPHA:284388
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Brain Small Vessel Disease 3
Cerebral hemorrhage, Cerebral calcification, Leukoencephalopathy, Cerebral atrophy OMIM:618360
Myh9-Related Disease
Prolonged bleeding time, Elevated hepatic transaminase, Spontaneous, recurrent epistaxis, Congeni... ORPHA:182050
Retinitis Pigmentosa 42
Pallor OMIM:612943
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Platelet anisocytosis, Epistaxis, Increased mean platelet volume OMIM:615193
Leishmaniasis
Abnormal bleeding, Elevated hepatic transaminase, Abnormal macrophage morphology, Hepatomegaly, P... ORPHA:507
Quebec Platelet Disorder
Joint hemorrhage, Impaired epinephrine-induced platelet aggregation, Epistaxis, Thrombocytopenia,... OMIM:601709
Combined Deficiency Of Factor V And Factor Viii
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Bleeding with mi... ORPHA:35909
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hepatic steatosis, Hepatic necrosis, Fulminant hepatic failure, Hypertrop... OMIM:231530
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Hepatomegaly, Thrombocytopenia, Leukopenia, Splenomega... OMIM:615285
Carcinoid Syndrome
Palpitations, Right ventricular failure, Elevated hepatic transaminase, Tricuspid regurgitation, ... ORPHA:100093
Abeta Amyloidosis, Italian Type
Cerebral hemorrhage, Stroke ORPHA:324713
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Impaired platelet aggregation, Acute monocytic leukemia, Prolonged bleeding time, Abnormal alpha ... OMIM:601399
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Acquired Von Willebrand Syndrome
Persistent bleeding after trauma, Hypochromic anemia, Joint hemorrhage, Aortic regurgitation, Gas... ORPHA:99147
Factor Vii Deficiency
Abnormal bleeding, Joint hemorrhage, Intracranial hemorrhage, Epistaxis, Menorrhagia OMIM:227500
Congenital Dyserythropoietic Anemia Type Iii
Poikilocytosis, Elevated hepatic transaminase, Post-partum hemorrhage, Oral cavity bleeding, Abno... ORPHA:98870
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Hepatomegaly, Acute myeloid leukemia, Thrombocytopenia, Anemia, Splenomega... OMIM:133180
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Reduced ejection fraction, Hepatocellular necrosis, Hepatic steatosis, Periportal fibrosis, Death... OMIM:201475
Abeta Amyloidosis, Iowa Type
Cerebral hemorrhage, Abnormal cerebral vascular morphology, Stroke ORPHA:324708
Beta-Thalassemia Intermedia
Persistence of hemoglobin F, Jaundice, Decreased liver function, High-output congestive heart fai... ORPHA:231222
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Ischemic stroke, Intracranial hemorrhage, Recurrent subcortical infarcts, Abnormal cerebral white... ORPHA:136
Glanzmann Thrombasthenia
Prolonged bleeding after surgery, Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, ... ORPHA:849
Retinitis Pigmentosa 81
Pallor OMIM:617871
Moderate Hemophilia A
Prolonged bleeding after surgery, Abnormal bleeding, Joint hemorrhage, Intraventricular hemorrhag... ORPHA:169805
X-Linked Sideroblastic Anemia
Pallor, Elevated hepatic transaminase, Anemia, Splenomegaly ORPHA:75563
Menkes Disease
Intracranial hemorrhage, Cutis laxa, Death in childhood OMIM:309400
Refractory Anemia
Abnormal bleeding, Erythroid hypoplasia, Abnormal cardiac ventricular function, Neutropenia, Norm... ORPHA:98826
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly, Death in childhood, Elevated hepatic transaminase OMIM:610329
Retinitis Pigmentosa 60
Pallor OMIM:613983
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Arrhythmia, Patent ductus arteriosus, Hypertension, Thrombocytopenia, Sideroblastic anemia, Decre... OMIM:617021
Hyperinsulinism Due To Ucp2 Deficiency
Palpitations, Diffuse pancreatic islet hyperplasia, Hepatomegaly, Tachycardia, Pallor, Hypertroph... ORPHA:276556
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Persistent bleeding after trauma, Congenital thrombocytopenia, Epistaxis, Petechiae, Anemia of in... OMIM:300367
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia, Purpura ORPHA:529
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Palpitations, Diffuse pancreatic islet hyperplasia, Hepatomegaly, Tachycardia, Focal pancreatic i... ORPHA:276575
Isovaleric Acidemia
Thrombocytopenia, Pancytopenia, Cerebellar hemorrhage, Leukopenia OMIM:243500
Paroxysmal Nocturnal Hemoglobinuria
Abnormal bleeding, Hemolytic anemia, Angina pectoris, Cerebral artery stenosis, Pancytopenia, Pul... ORPHA:447
Crimean-Congo Hemorrhagic Fever
Abnormal bleeding, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Hepatic steatosis,... ORPHA:99827
Transaldolase Deficiency
Cirrhosis, Premature skin wrinkling, Thrombocytopenia, Anemia, Hepatosplenomegaly, Telangiectasia ORPHA:101028
Autoimmune Hemolytic Anemia
Arrhythmia, Hemolytic anemia, Congestive heart failure, Splenomegaly, Abnormal leukocyte morpholo... ORPHA:98375
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Subarachnoid hemorrhage, Cerebral vasculitis, Eosinophilia OMIM:243700
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Non-Involuting Congenital Hemangioma
Hepatic hemangioma, Thrombocytopenia, Congestive heart failure, Telangiectasia of the skin ORPHA:141179
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Pulmonary embolism, Retinal telangiectasia, Cerebral hemorrhage, Pul... ORPHA:774
Erythrocytosis, Familial, 2
Increased hematocrit, Hypotension, Increased hemoglobin, Stroke, Increased red blood cell mass, C... OMIM:263400
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Congestive heart failure, Tachycardia, Splenomegaly, Pallor ORPHA:90037
Lysosomal Acid Lipase Deficiency
Elevated circulating aspartate aminotransferase concentration, Cirrhosis, Bone-marrow foam cells,... OMIM:278000
Pediatric Hepatocellular Carcinoma
Hepatic fibrosis, Hepatic necrosis, Hepatomegaly ORPHA:33402
Breath-Holding Spells
Iron deficiency anemia, Pallor OMIM:607578
Cerebral Cavernous Malformations 3
Abnormal cerebral morphology, Cerebral hemorrhage OMIM:603285
Athrombia, Essential
Impaired platelet aggregation, Impaired platelet adhesion, Prolonged bleeding time OMIM:209050
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Intracranial hemorrhage, Subarachnoid hemorrhage, Cerebral ... ORPHA:231160
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failure, Cerebellar hemorrhage, S... ORPHA:99901
Amegakaryocytic Thrombocytopenia, Congenital
Thrombocytopenia, Pancytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Palpitations, Diffuse pancreatic islet hyperplasia, Hepatomegaly, Tachycardia, Pallor, Hypertroph... ORPHA:276580
Optic Atrophy 9
Pallor OMIM:616289
Autoerythrocyte Sensitization Syndrome
Thrombocytosis, Joint hemorrhage, Impaired platelet adhesion, Gastrointestinal hemorrhage, Autoim... ORPHA:324636
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Hepatomegaly, Thrombocytopenia, Leukopenia, Pancreatitis, Cardiomyopathy OMIM:251000
Fechtner syndrome
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia, Leukocyte inclusion bodies, Menorrh... OMIM:153640
Congenital Alpha2-Antiplasmin Deficiency
Persistent bleeding after trauma, Abnormal bleeding, Joint hemorrhage, Intracranial hemorrhage, H... ORPHA:79
Alpha-Thalassemia-Myelodysplastic Syndrome
Abnormal bleeding, Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly... ORPHA:231401
Bleeding Disorder, Platelet-Type, 18
Impaired platelet aggregation, Prolonged bleeding time, Epistaxis OMIM:615888
Babesiosis
Hemolytic anemia, Hepatomegaly, Jaundice, Myocardial infarction, Congestive heart failure, Thromb... ORPHA:108
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Restrictive cardiomyopathy,... ORPHA:822
Tempi Syndrome
Increased hematocrit, Facial erythema, Intracranial hemorrhage, Polycythemia, Telangiectasia ORPHA:284227
Rapidly Involuting Congenital Hemangioma
Hepatic hemangioma, Thrombocytopenia, Congestive heart failure, Telangiectasia of the skin ORPHA:141184
Idiopathic Aplastic Anemia
Ecchymosis, Neutropenia, Epistaxis, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Anemia, Re... ORPHA:88
Neonatal Lupus Erythematosus
Abnormal bleeding, Heart block, Abnormal electrophysiology of sinoatrial node origin, Elevated he... ORPHA:398124
Pseudo-Torch Syndrome 3
Leukocytosis, Congenital thrombocytopenia, Death in infancy, Hypertension, Cerebral hemorrhage, A... OMIM:618886
Preeclampsia
Abnormality of the hepatic vasculature, Elevated hepatic transaminase, Elevated systolic blood pr... ORPHA:275555
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Epistaxis, Menorrhagia, Bruising susceptibility, Ecchymosis OMIM:614201
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Increased red cell hemolysi... OMIM:194380
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Prolonged bleeding after surgery, Persistent bleeding after trauma, Joint hemorrhage, Epidural he... ORPHA:465
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failure, ... ORPHA:71212
Acute Liver Failure
Abnormal bleeding, Elevated hepatic transaminase, Hepatocellular necrosis, Gastrointestinal hemor... ORPHA:90062
Hepatocellular Carcinoma
Abnormality of the hepatic vasculature, Thrombocytosis, Elevated hepatic transaminase, Internal h... ORPHA:88673
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia, Hypertrophic cardiomyopathy ORPHA:295
Primary Angiitis Of The Central Nervous System
Intracranial hemorrhage, Recurrent subcortical infarcts, Stroke, Cerebral vasculitis, Transient i... ORPHA:140989
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Jaundice, Congestive heart failure, Tach... ORPHA:90033
Hermansky-Pudlak Syndrome 5
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Thrombocytopenia, Menorrhagia, Bruising su... OMIM:614074
Peripheral Cone Dystrophy
Pallor OMIM:609021
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time OMIM:314560
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time, Epistaxis, Ecchymosis, Bruising susceptibility OMIM:614158
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Stroke, Thrombocytopenia, Conges... OMIM:611126
Pancytopenia And Occlusive Vascular Disease
Thrombocytopenia, Leukopenia, Pancytopenia, Anemia OMIM:167850
Sneddon Syndrome
Cerebral hemorrhage, Ischemic stroke, Hypertension OMIM:182410
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Hyperinsulinism Due To Hnf1A Deficiency
Palpitations, Hepatomegaly, Tachycardia, Pallor, Syncope ORPHA:324575
Wiskott-Aldrich Syndrome
Chronic leukemia, Intracranial hemorrhage, Neutropenia, Anemia, Acute leukemia, Purpura, Epistaxi... ORPHA:906
Platelet Disorder, Undefined
Impaired platelet aggregation, Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time OMIM:173420
Aicardi-Goutieres Syndrome 4
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Thrombocytopenia, Death in childhood, ... OMIM:610333
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Arrhythmia, Reticulocytosis, Stroke, Thrombocytopenia, Myocard... ORPHA:54057
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Pallor, Pancreatic islet-cell hyperplasia ORPHA:276608
Rhabdoid Tumor
Internal hemorrhage, Hypertension, Neoplasm of the liver, Thrombocytopenia, Anemia ORPHA:69077
Ebola Hemorrhagic Fever
Abnormal bleeding, Gastrointestinal hemorrhage, Acute hepatic failure, Epistaxis, Thrombocytopeni... ORPHA:319218
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia, Decreased liver function, Cardiomyopathy ORPHA:67048
Sneddon Syndrome
Intracranial hemorrhage, Hypertension ORPHA:820
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Thrombocytopenia, Petechiae, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:611490
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Hepatomegaly, Jaundice, Thrombocytopenia, Anemia, Splenomegaly OMIM:603552
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Acquired Aneurysmal Subarachnoid Hemorrhage
Ischemic stroke, ST segment depression, Hypertension, Hypopituitarism, Abnormal cerebral artery m... ORPHA:90065
Essential Thrombocythemia
Prolonged bleeding time, Myocardial infarction, Abnormal cerebral vascular morphology, Splenomega... ORPHA:3318
Elliptocytosis 1
Hemolytic anemia, Elliptocytosis, Jaundice, Splenomegaly, Pallor OMIM:611804
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Stroke, Hepatomegaly, Thrombocytopenia, Pancreatitis, Splenomegaly, Anemia, Cardiomy... ORPHA:79312
Non-Functioning Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:94080
Familial Afibrinogenemia
Abnormal bleeding, Cerebral hemorrhage, Epistaxis, Gingival bleeding ORPHA:98880
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Cirrhosis, Arrhythmia, Persistence of hemoglobin F, Decreased mean... ORPHA:231226
Bernard-Soulier Syndrome
Prolonged bleeding after surgery, Abnormal bleeding, Gastrointestinal hemorrhage, Hematemesis, Sp... ORPHA:274
Hemorrhagic Fever-Renal Syndrome
Arrhythmia, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Intracranial hemorrhage, ... ORPHA:340
Marburg Hemorrhagic Fever
Abnormal bleeding, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Subconjunctival he... ORPHA:99826
American Trypanosomiasis
Arrhythmia, Hepatomegaly, Splenomegaly, Congestive heart failure, Myocarditis, Pallor, Cardiomyop... ORPHA:3386
Familial Multiple Nevi Flammei
Intracranial hemorrhage, Pulmonary embolism, Arrhythmia, Skin ulcer ORPHA:624
Congenital Disorder Of Glycosylation, Type Iif
Pulmonary hemorrhage, Aortic regurgitation, Neutropenia, Macrothrombocytopenia, Thrombocytopenia,... OMIM:603585
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Neutropenia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Fulmi... OMIM:308240
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Heinz bodies, Reticulocytosis, Leukocytosis, Prolonged neonat... OMIM:300908
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia, Abnormal bleeding, Prolonged bleeding time OMIM:188025
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Microcephaly, Hydrocephalus ORPHA:398189
Propionic Acidemia
Neutropenia, Cerebellar hemorrhage, Hepatomegaly, Pancytopenia, Thrombocytopenia, Pancreatitis, A... OMIM:606054
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor, Hypertrophic cardiomyopathy OMIM:612989
Beta-Thalassemia Major
Persistence of hemoglobin F, Decreased mean corpuscular hemoglobin concentration, Reduced hemoglo... ORPHA:231214
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia OMIM:131400
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Myeloproliferative disorder, Hypotension, Leukocytosis, Chronic lymphatic leuke... ORPHA:98849
Sea-Blue Histiocytosis
Abnormal bleeding, Hepatomegaly, Thrombocytopenia, Petechiae, Sea-blue histiocytosis, Splenomegaly ORPHA:158029
Cerebral Amyloid Angiopathy, App-Related
Recurrent cerebral hemorrhage, Cerebellar hemorrhage, Stroke, Tortuous cerebral arteries, Cerebra... OMIM:605714
Letterer-Siwe Disease
Neutropenia, Thrombocytopenia, Jaundice, Anemia, Hepatosplenomegaly, Pallor OMIM:246400
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Vasculitis, Thrombocytopenia, Splenomegaly OMIM:615846
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular volume, Hepatosplenomegaly, Pallor OMIM:611590
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Abnormality of the hepatic vasculature, Elevated hepatic transaminase, Nodular regenerative hyper... ORPHA:210136
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Decreased liver function, Increased B cell count, Myo... ORPHA:2442
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Hypochromic anemia, Microcytic anemia, Pappenheimer bodies, Erythroid hyperplasia, Sideroblastic ... OMIM:600462
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Hematemesis, Intracranial hemorrhage, Muscle hemorrhage, Hematochezi... ORPHA:464321
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... OMIM:300835
Thrombocytopenia 3
Thrombocytopenia, Petechiae, Decreased mean platelet volume, Epistaxis OMIM:273900
Aregenerative Anemia
Abnormal bleeding, Erythroid hypoplasia, Decreased proportion of CD4-positive helper T cells, Bru... ORPHA:101096
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Hepatocellular necrosis, Elliptocytosis, Reticulocytosis, Hepatomegaly,... OMIM:618278
Fibronectin Glomerulopathy
Cerebral hemorrhage, Hypertension ORPHA:84090
Leigh Syndrome
Hepatocellular necrosis OMIM:256000
Optic Atrophy 1
Pallor OMIM:165500
Multiple Acyl-Coa Dehydrogenase Deficiency
Arrhythmia, Elevated hepatic transaminase, Acute pancreatitis, Hepatomegaly, Decreased liver func... ORPHA:26791
Relapsing Fever
Abnormal bleeding, Elevated hepatic transaminase, Hypotension, Leukocytosis, Epistaxis, Thrombocy... ORPHA:91547
Hellp Syndrome
Microangiopathic hemolytic anemia, Hemolytic anemia, Elevated hepatic transaminase, Internal hemo... ORPHA:244242
Refractory Anemia With Excess Blasts
Anemic pallor, Abnormal bleeding, Palpitations, Leukocytosis, Thrombocytopenia, Acute myeloid leu... ORPHA:86839
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Dermatitis, Atopic
Pallor, Facial erythema, Dry skin OMIM:603165
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Reticulocytopenia, Anisopoikilocytosis, Dysplastic erythropoesis, ... ORPHA:300298
Retinitis Pigmentosa 70
Pallor OMIM:615922
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Moyamoya phenomenon, Ischemic stroke, Hypertension, Cerebral hemorrhage, Dilated cardiomyopathy ORPHA:280679
Specific Granule Deficiency 2
Thrombocytopenia, Absent neutrophil specific granules, Neutropenia, Anemia OMIM:617475
Cold Agglutinin Disease
Hepatomegaly, Hemolytic anemia, Pallor, Splenomegaly ORPHA:56425
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Moyamoya phenomenon, Cerebral hemorrhage, Stroke-like episode, Abnormal cerebral vascular morphol... OMIM:300845
Spontaneous Periodic Hypothermia
Arrhythmia, Pallor ORPHA:29822
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Hepatomegaly, Jaundice, Neonatal death, Hepatic periportal necrosis OMIM:231680
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Stormorken Syndrome
Abnormal bleeding, Epistaxis, Thrombocytopenia, Asplenia, Stroke-like episode, Anemia, Howell-Jol... OMIM:185070
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Purpura, Abnormality of neutrophils, Epistaxis, Stroke, Hepatomegaly... ORPHA:33226
Gaucher Disease, Type I
Epistaxis, Hypertension, Hepatomegaly, Pancytopenia, Aortic valve stenosis, Thrombocytopenia, Hyp... OMIM:230800
Myelofibrosis
Splenomegaly, Pallor, Myeloproliferative disorder, Purpura OMIM:254450
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Autoimmune hemolytic anemia, Decreased proportion of CD3-positive ... ORPHA:331206
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Pancreatic cysts, Subconjunctival hemorrhage, Abnormal sp... ORPHA:464329
Sepsis In Premature Infants
Abnormal bleeding, Purpura, Hypotension, Leukocytosis, Neutropenia, Bradycardia, Hepatomegaly, Ja... ORPHA:90051
Prothrombin Deficiency, Congenital
Ecchymosis, Joint hemorrhage, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Me... OMIM:613679
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Thrombocytopenia, Leukopenia, Anemia, Pancreatitis, Cardiomyopathy, Macrocytic anemia ORPHA:27
Acute Promyelocytic Leukemia
Ecchymosis, Abnormal bleeding, Purpura, Leukocytosis, Oral cavity bleeding, Epistaxis, Neutropeni... ORPHA:520
Sengers Syndrome
Thrombocytopenia, Hypertrophic cardiomyopathy OMIM:212350
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Death in infancy, Anemia OMIM:619302
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Hypophosphatasia, Infantile
Intracranial hemorrhage, Stillbirth, Death in infancy, Anemia OMIM:241500
Wilson Disease
Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failu... ORPHA:905
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Reticulocytosis, Stroke, Prolonged neonatal jaundice, Jaundice... OMIM:274150
Retinitis Pigmentosa 27
Pallor OMIM:613750
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Thrombocytopenia, Elevated hepatic transaminase OMIM:614727
Dyskeratosis Congenita, Autosomal Recessive 2
Thrombocytopenia, Cirrhosis, Pancytopenia OMIM:613987
Pontocerebellar Hypoplasia, Type 14
Thrombocytopenia, Chronic neutropenia, Death in infancy OMIM:619301
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Lip telangiectasia, Cerebral arteriovenous malformation, Melena, Cer... OMIM:600376
Wyburn-Mason Syndrome
Subarachnoid hemorrhage, Epistaxis, Cerebral hemorrhage, Abnormal cerebral vascular morphology, G... ORPHA:53719
Cernunnos-Xlf Deficiency
T lymphocytopenia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia ORPHA:169079
Mirage Syndrome
Intracranial hemorrhage, Lymphopenia, Patent ductus arteriosus, Thrombocytopenia, Petechiae, Anem... OMIM:617053
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Thrombocytopenia, Anemia, Splenomegaly OMIM:615085
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Thiamine-Responsive Megaloblastic Anemia Syndrome
Arrhythmia, Thiamine-responsive megaloblastic anemia, Stroke, Sideroblastic anemia, Thrombocytope... OMIM:249270
Idiopathic Hypereosinophilic Syndrome
Intracranial hemorrhage, Vasculitis in the skin, Chronic hepatitis, Pulmonary embolism, Anemia, N... ORPHA:3260
Transaldolase Deficiency
Micronodular cirrhosis, Cirrhosis, Patent ductus arteriosus, Hepatic fibrosis, Hepatomegaly, Panc... OMIM:606003
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Neutropenia, Anemia OMIM:614082
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Capillary Malformation-Arteriovenous Malformation
Abnormal bleeding, Cerebral arteriovenous malformation, Vein of Galen aneurysmal malformation, Hy... ORPHA:137667
Catastrophic Antiphospholipid Syndrome
Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Angina pectoris, Abnormal he... ORPHA:464343
3-Hydroxy-3-Methylglutaric Aciduria
Thrombocytosis, Elevated hepatic transaminase, Prolonged prothrombin time, Hypotension, Leukocyto... ORPHA:20
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Acys Amyloidosis
Cerebral hemorrhage, Death in early adulthood, Stroke ORPHA:100008
Familial Hyperaldosteronism Type Ii
Intracranial hemorrhage, Epistaxis, Hypertension ORPHA:404
Cerebral Visual Impairment
Ischemic stroke, Intracranial hemorrhage, Abnormal cerebral white matter morphology, Abnormal cer... ORPHA:447788
Abeta Amyloidosis, Dutch Type
Cerebral hemorrhage, Death in early adulthood, Stroke ORPHA:100006
Cyclic Vomiting Syndrome
Pallor, Cardiomyopathy OMIM:500007
Thrombocytopenia 1
Decreased mean platelet volume, Joint hemorrhage, Intermittent thrombocytopenia, Congenital throm... OMIM:313900
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Epistaxis, Hypertension ORPHA:403
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Gastrointestinal hemorrhage, Hypotension, Leukocytosis,... ORPHA:98850
Retinitis Pigmentosa 73
Pallor OMIM:616544
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Death in childhood, Pallor, Anemia OMIM:246450
Prolidase Deficiency
Diffuse telangiectasia, Hepatomegaly, Prolonged neonatal jaundice, Petechiae, Splenomegaly, Throm... OMIM:170100
Autoinflammation With Infantile Enterocolitis
Diffuse alveolar hemorrhage, Thrombocytopenia, Pancytopenia, Reduced natural killer cell count, A... OMIM:616050
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congest... OMIM:171420
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Tachycardia, Pallor ORPHA:90036
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Caroli Syndrome
Melena, Jaundice, Hypersplenism, Leukopenia, Cirrhosis, Intrahepatic cholestasis, Thrombocytopeni... ORPHA:480520
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Thrombocytopenia, Anemia ORPHA:858
Aicardi-Goutieres Syndrome 5
Thrombocytopenia, Scaling skin, Dry skin OMIM:612952
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Thrombocytopenia, Patent ductus arteriosus, Anemia ORPHA:2123
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Familial Hyperaldosteronism Type Iii
Intracranial hemorrhage, Prolonged QT interval, Epistaxis, Hypertension ORPHA:251274
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Thrombocytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:613101
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology ORPHA:3032
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Bone Marrow Failure Syndrome 4
Thrombocytopenia, Anemia, Leukopenia, Dry skin OMIM:618116
Factor V Deficiency
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Menorrhagia, Bruising susceptibility, Prol... OMIM:227400
Gaucher Disease, Type Iii
Hepatomegaly, Thrombocytopenia, Pancytopenia, Splenomegaly OMIM:231000
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Aspergillosis
Intracranial hemorrhage, Neutropenia, Stroke, Hepatitis, Eosinophilia ORPHA:1163
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hypoplastic anemia, A... OMIM:159550
Glutaryl-Coa Dehydrogenase Deficiency
Open operculum, Abnormal caudate nucleus morphology, Pallidal degeneration, Ventriculomegaly, Sub... ORPHA:25
Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Pallor, Increased hepatic glycogen cont... ORPHA:263455
Neurocutaneous Melanocytosis
Intracranial hemorrhage, Ventriculomegaly, Dandy-Walker malformation, Meningocele ORPHA:2481
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Ischemic stroke, Lip telangiectasia, Cerebral arteriovenous malforma... OMIM:610655
Combined Oxidative Phosphorylation Deficiency 14
Thrombocytopenia, Death in infancy, Anemia OMIM:614946
Congenital Enterovirus Infection
Abnormal bleeding, Hypotension, Leukocytosis, Abnormal macrophage morphology, Neutropenia, Choles... ORPHA:292
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Thrombocytopenia, Menorrhagia OMIM:617443
Senior-Loken Syndrome 8
Hepatic cysts, Pancreatic cysts, Pallor OMIM:616307
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Abnormal bleeding OMIM:314000
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Congenital Disorder Of Glycosylation, Type Iil
Abnormal bleeding, Cirrhosis, Elevated hepatic transaminase, Patent ductus arteriosus, Death in i... OMIM:614576
Von Willebrand Disease, Type 1
Persistent bleeding after trauma, Prolonged bleeding after surgery, Impaired platelet aggregation... OMIM:193400
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume OMIM:252270
Vascular Hyalinosis
Subarachnoid hemorrhage, Cerebral calcification, Hematochezia OMIM:277175
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Lymphopenia, Patent ductus arteriosus, Neutropenia, Hepatomega... OMIM:612541
Sporadic Pheochromocytoma/Secreting Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:276621
Fanconi Anemia, Complementation Group T
Thrombocytopenia, Pancytopenia, Anemia OMIM:616435
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Neutropenia, Hepatomegaly, Thrombocytopenia, Anemia, Pancreatitis ORPHA:289916
Malaria
Thrombocytopenia, Anemia ORPHA:673
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Intracranial hemorrhage, Epistaxis, Hypertension, Second degree atrioventricular block, Pulmonary... ORPHA:369929
Aicardi-Goutieres Syndrome 1
Elevated hepatic transaminase, Purpura, Hepatomegaly, Prolonged neonatal jaundice, Petechiae, Thr... OMIM:225750
Beta-Ketothiolase Deficiency
Thrombocytosis, Hypotension, Leukocytosis, Hypertension, Hepatomegaly, Pallor ORPHA:134
Noonan Syndrome 12
Supravalvular aortic stenosis, Thrombocytopenia, Lymphopenia OMIM:618624
Boutonneuse Fever
Elevated hepatic transaminase, Thrombocytopenia, Petechiae, Leukopenia, Vasculitis ORPHA:83313
Rheumatic Fever
Arrhythmia, Pericarditis, Epistaxis, Erythema, Myocarditis, Pallor ORPHA:3099
Irida Syndrome
Intrahepatic cholestasis, Pallor ORPHA:209981
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Elevated hepatic transaminase, Purpura, Neutropenia, Hepatomegaly, Jaundice, Pe... ORPHA:540
Tufted Angioma
Thrombocytopenia, Petechiae, Anemia, Purpura ORPHA:1063
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pulmonary hemorrhage, T lymphocytopenia, Elevated hepatic transaminase, Decreased proportion of m... ORPHA:79124
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Pyoderma g... OMIM:150550
Nephrotic Syndrome, Type 7
Thrombocytopenia, Hemolytic anemia OMIM:615008
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Palpitations, Intracranial hemorrhage, Epistaxis, Hypertension, Abnormal T-wave ORPHA:231625
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Lip telangiectasia, Cerebral arteriovenous malformation, Melena, Cer... OMIM:187300
Gaucher Disease, Type Ii
Hepatomegaly, Thrombocytopenia, Anemia, Splenomegaly OMIM:230900
Gaucher Disease Type 1
Cirrhosis, Biliary tract obstruction, Hepatomegaly, Pancytopenia, Thrombocytopenia, Hypersplenism... ORPHA:77259
Thrombocytopenia 6
Spontaneous, recurrent epistaxis, Abnormal bleeding, Thrombocytopenia OMIM:616937
Congenital Rubella Syndrome
Patent ductus arteriosus, Hepatomegaly, Jaundice, Thrombocytopenia, Anemia, Splenomegaly ORPHA:290
Congenital Disorder Of Glycosylation, Type Ih
Patent ductus arteriosus, Cholestasis, Hepatomegaly, Thrombocytopenia, Decreased liver function, ... OMIM:608104
Pseudo-Torch Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Petechiae, Decreased liver function, Throm... OMIM:251290
Hereditary Folate Malabsorption
Megaloblastic anemia, Pancytopenia, Thrombocytopenia, Pallor, Eosinophilia ORPHA:90045
Transcobalamin Deficiency
Thrombocytopenia, Lymphopenia, Pancytopenia, Neutropenia ORPHA:859
Blue Rubber Bleb Nevus
Iron deficiency anemia, Thrombocytopenia, Intestinal bleeding, Abnormality of the liver OMIM:112200
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Arrhythmia, Basal ganglia cysts, Increased muscle lipid conte... OMIM:608836
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive he... OMIM:613011
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia, Decreased liver function, Death in childhood OMIM:615597
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia, Pyoderma gangrenosum OMIM:616576
Wt Limb-Blood Syndrome
Thrombocytopenia, Hypoplastic anemia, Pancytopenia, Leukemia OMIM:194350
Lmna-Related Cardiocutaneous Progeria Syndrome
Premature skin wrinkling, Intracranial hemorrhage, Mitral regurgitation, Hypertension, Aortic val... ORPHA:363618
Extracranial Carotid Artery Aneurysm
Arteritis, Subarachnoid hemorrhage, Hypertension, Stroke, Cerebral ischemia, Vasculitis, Upper li... ORPHA:494424
Von Hippel-Lindau Disease
Palpitations, Arrhythmia, Pancreatic cysts, Polycythemia, Cardiomyopathy, Abnormal left ventricul... ORPHA:892
Drug-Induced Lupus Erythematosus
Pericarditis, Thrombocytopenia, Petechiae, Anemia, Prolonged QTc interval ORPHA:231111
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Spontaneous, recurrent epistaxis, Impaired neutrophil ... OMIM:214500
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Extramedullary hematopoiesis, Hepatomegaly, Pancytopenia, Thrombocytopenia, Splenomeg... OMIM:259720
Hermansky-Pudlak Syndrome 6
Abnormal bleeding, Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Epistaxis,... OMIM:614075
Omenn Syndrome
Severe B lymphocytopenia, Hepatomegaly, Thrombocytopenia, Hypoplasia of the thymus, B lymphocytop... OMIM:603554
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intraventricular hemorrhage, Death in adolescence, Death in infancy, Neonatal death, Death in chi... OMIM:619055
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor OMIM:608423
Aplasia Cutis Congenita
Spinal dysraphism, Prolonged bleeding time, Facial palsy ORPHA:1114
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor, Abnormal bleeding, Anemia, Hematochezia ORPHA:329971
Systemic Lupus Erythematosus
Thrombocytopenia, Hemolytic anemia, Pericarditis, Leukopenia OMIM:152700
Isolated Agammaglobulinemia
Abnormality of neutrophils, Abnormal lymphocyte morphology, Thrombocytopenia, Anemia, Skin ulcer ORPHA:229717
Schimke Immuno-Osseous Dysplasia
Arteriosclerosis of small cerebral arteries, Ischemic stroke, Abnormal proportion of naive CD4 T ... ORPHA:1830
Pediatric-Onset Graves Disease
Palpitations, Elevated hepatic transaminase, Sinus tachycardia, Atrial fibrillation, Hypertension... ORPHA:525731
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, Ventricular tachycardia, Hep... ORPHA:137675
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
Wiskott-Aldrich Syndrome
Iron deficiency anemia, Decreased mean platelet volume, Prolonged bleeding time, Small vessel vas... OMIM:301000
Methylmalonic Acidemia With Homocystinuria Type Cblf
Megaloblastic anemia, Neutropenia, Intraventricular hemorrhage, Reduced number of intrahepatic bi... ORPHA:79284
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Tachycardia, Pallor ORPHA:348
Classic Homocystinuria
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Intracranial hemorrhage, Hypertension... ORPHA:394
Wolfram Syndrome, Mitochondrial Form
Megaloblastic anemia, Thrombocytopenia, Neutropenia, Sideroblastic anemia OMIM:598500
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Thrombocytopenia, Cerebral vasculitis, Leukocytosis ORPHA:83601
Fumarase Deficiency
Polycythemia, Pallor, Hepatic failure, Cholestasis OMIM:606812
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Vasculitis, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Retinitis Pigmentosa And Erythrocytic Microcytosis
Elliptocytosis, Anisocytosis, Anemia, Decreased mean corpuscular volume, Pallor, Poikilocytosis OMIM:616959
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Purpura, Congenital thrombocytopenia, Petechiae, Aplastic anemia, Amegakaryocytic thrombocytopenia OMIM:605432
Klippel-Trénaunay Syndrome
Prolonged bleeding time, Gastrointestinal hemorrhage, Internal hemorrhage, Patent ductus arterios... ORPHA:90308
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Thrombocytopenia, Neutropenia, Anemia OMIM:614857
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Intracranial hemorrhage, Patent ductus arteriosus, Thrombocytopenia, Heart murmur, Anemia, Absent... ORPHA:163979
Immunodeficiency 59 And Hypoglycemia
Hypochromic anemia, Arteritis, Leukocytosis, Hepatomegaly, Thrombocytopenia, Granulocytopenia, De... OMIM:233600
Cog4-Cdg
Fatal liver failure in infancy, Cirrhosis, Elevated hepatic transaminase, Thrombocytopenia, Hepat... ORPHA:263501
Mucopolysaccharidosis-Plus Syndrome
Macrovesicular hepatic steatosis, Patent ductus arteriosus, Neutropenia, Hepatomegaly, Thrombocyt... OMIM:617303
Hereditary Pheochromocytoma-Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:29072
Pseudoxanthoma Elasticum, Forme Fruste
Angina pectoris, Cerebral hemorrhage, Retinal hemorrhage, Gastrointestinal hemorrhage OMIM:177850
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Ischemic stroke, Aortic regurgitation, Hypovolemia, Subarachnoid hemorrhage, Abnormal left ventri... ORPHA:91387
Griscelli Syndrome
Abnormality of neutrophils, Hepatomegaly, Jaundice, Hepatitis, Thrombocytopenia, Leukopenia, Sple... ORPHA:381
Hermansky-Pudlak Syndrome 2
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Neutropenia, Hepatomegaly, Th... OMIM:608233
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Decreased mean platelet volume, Small vessel vasculitis, Prolonged bleedi... OMIM:600903
Autoinflammatory Syndrome, Familial, Behcet-Like
Thrombocytopenia, Lymphopenia, Hemolytic anemia OMIM:616744
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Schimke Immunoosseous Dysplasia
Lymphopenia, Neutropenia, Hypertension, Thrombocytopenia, Abnormal T cell morphology, Cerebral is... OMIM:242900
Hydranencephaly
Antenatal intracerebral hemorrhage, Dysgenesis of the thalamus, Abnormal corpus striatum morpholo... ORPHA:2177
Necrotizing Enterocolitis
Peritonitis, Hypotension, Leukocytosis, Neutropenia, Thrombocytopenia, Shock, Bradycardia ORPHA:391673
Wolfram Syndrome 1
Megaloblastic anemia, Sideroblastic anemia, Thrombocytopenia, Stroke-like episode, Cardiomyopathy OMIM:222300
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Neutropenia, Anemia OMIM:616738
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Lymphopenia, Neutropenia, Tricuspid regurgitation, Reticulocytopeni... ORPHA:508542
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Thrombocytopenia OMIM:254900
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Thrombocytopenia, Anemia, Splenomegaly ORPHA:2785
Pituitary Deficiency Due To Rathke Cleft Cysts
Panhypopituitarism, Anterior hypopituitarism, Intracranial hemorrhage, Enlarged pituitary gland, ... ORPHA:91350
Adams-Oliver Syndrome
Cirrhosis, Gastrointestinal hemorrhage, Thrombocytopenia, Congenital hepatic fibrosis, Leukopenia... ORPHA:974
Felty Syndrome
Pericarditis, Abnormal lymphocyte morphology, Neutropenia, Hepatomegaly, Thrombocytopenia, Anemia... ORPHA:47612
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hemolytic anemia, Sclerosing cholangitis, Neutropenia, Hepatomegaly, Chronic hepatitis... OMIM:308230
Neurofibromatosis-Noonan Syndrome
Pulmonic stenosis, Prolonged bleeding time, Hypertrophic cardiomyopathy ORPHA:638
X-Linked Agammaglobulinemia
Neutropenia, Thrombocytopenia, Hepatitis, Anemia, Skin ulcer ORPHA:47
Immunodeficiency 46
Intermittent thrombocytopenia, Neutropenia, Anemia OMIM:616740
Gamma-Heavy Chain Disease
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morphology, Hepatom... ORPHA:100026
Cocaine Intoxication
Ventricular arrhythmia, Ischemic stroke, Prolonged QRS complex, Supraventricular arrhythmia, Hypo... ORPHA:90068
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Thrombocytopenia, Hep... OMIM:304790
Lig4 Syndrome
Thrombocytopenia, Pancytopenia, Telangiectasia OMIM:606593
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Megaloblastic anemia, Subdural hemorrhage, Neutropenia, Stroke, Thrombocy... ORPHA:79282
Q Fever
Elevated hepatic transaminase, Pericarditis, Purpura, Abnormal left ventricular function, Hepatom... ORPHA:781
Tularemia
Thrombocytopenia, Tachycardia, Anemia, Leukocytosis ORPHA:3392
Osteopetrosis, Autosomal Recessive 2
Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Anemia, Hepatosplenomegaly OMIM:259710
Shwachman-Diamond Syndrome 2
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Neutropenia, Normocytic anemia, Hepat... OMIM:617941
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Thrombocytopenia, Normochromic anemia, Bradycardia, Hypertrophic cardiomyopathy OMIM:618775
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Purpura, Reticulocytosis, Hypertension, Thrombocytopenia, Schi... OMIM:235400
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Purpura, Pulmonary embolism, Abnormal cerebral vascular morphology, Subcutaneous hemorrhage, Skin... ORPHA:743
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia, Hypertension OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia, Hypertension OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia, Hypertension OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia, Hypertension OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia, Hypertension OMIM:612926
Pheochromocytoma
Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congest... OMIM:171300
Osteogenesis Imperfecta, Type Xvii
Decreased muscle mass, Intraventricular hemorrhage OMIM:616507
Fanconi Anemia, Complementation Group E
Anemic pallor, Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia, Leukemia, ... OMIM:600901
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Cerebral arteriovenous malformation, Hematochezia, Epistaxis, Stroke, Mitral regurgitation, Telan... OMIM:175050
Bacterial Toxic-Shock Syndrome
Peritonitis, Hypotension, Scaling skin, Capillary leak, Increased circulating metamyelocyte count... ORPHA:36234
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Elevated hepatic transaminase, Viral hepatitis, Hepatic steatosis, ... ORPHA:101330
Parkes Weber Syndrome
Abnormal bleeding, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, Lower limb muscl... ORPHA:90307
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Elevated hepatic transaminase, Hepatomegaly, Jaundice, Pancytopenia, Thrombocyt... OMIM:603553
Folate Malabsorption, Hereditary
Thrombocytopenia, Folate-responsive megaloblastic anemia, Neutropenia, Leukopenia OMIM:229050
Dyskeratosis Congenita, Autosomal Dominant 2
Thrombocytopenia, Pancytopenia, Aplastic anemia, Leukopenia, Dilated cardiomyopathy OMIM:613989
Retinitis Pigmentosa 51
Pallor OMIM:613464
Arteriovenous Malformations Of The Brain
Cerebral arteriovenous malformation OMIM:108010
Fanconi Anemia, Complementation Group A
Anemic pallor, Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia, Leukemia, ... OMIM:227650
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Thrombocytopenia, Anemia, Leukopenia OMIM:613845
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Elevated hepatic transaminase, Abnormal left ventricular function, Hepatomegaly, Pulmonic stenosi... OMIM:301056
Kasabach-Merritt Syndrome
Microangiopathic hemolytic anemia, Purpura, Reticulocytosis, Neutropenia, Hepatic hemangioma, Thr... ORPHA:2330
Chédiak-Higashi Syndrome
Increased proportion of CD25+ mast cells, Abnormal bleeding, Abnormal platelet function, Hemophag... ORPHA:167
Plummer-Vinson Syndrome
Iron deficiency anemia, Hypochromic microcytic anemia, Pallor ORPHA:54028
Amed Syndrome, Digenic
Thrombocytopenia, Acute myeloid leukemia, Anemia, Leukopenia OMIM:619151
Shwachman-Diamond Syndrome 1
Exocrine pancreatic insufficiency, Elevated hepatic transaminase, Persistence of hemoglobin F, Ne... OMIM:260400
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia OMIM:618048
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Hepatomegaly, Jaundice, Thrombocytopenia, Leukopenia, Splenomegaly, Anemia, Pro... OMIM:267700
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
Storage Pool Platelet Disease
Abnormal bleeding, Decreased mean platelet volume, Prolonged bleeding time, Acute leukemia OMIM:185050
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Neutropenia, Thrombocytopenia,... OMIM:169400
Toxic Epidermal Necrolysis
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Acute hepatic failure, Neutropenia, E... ORPHA:537
Myoclonus, Intractable, Neonatal
Pallor OMIM:617235
Stevens-Johnson Syndrome
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Abnormality of neutrophils, Acute hep... ORPHA:36426
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Patent ductus arteriosus, Increased mean platelet volume OMIM:300048
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Leukopenia OMIM:614171
Nelson Syndrome
Pituitary corticotropic cell adenoma, Intracranial hemorrhage, Lower limb muscle weakness, Hypert... ORPHA:199244
Bannayan-Riley-Ruvalcaba Syndrome
Intracranial hemorrhage, Angina pectoris, Skeletal muscle atrophy, Myopathy, Subcutaneous hemorrh... ORPHA:109
Lysinuric Protein Intolerance
Pulmonary hemorrhage, Hemophagocytosis, Cutis laxa, Hepatomegaly, Thrombocytopenia, Pancreatitis,... OMIM:222700
Fanconi Anemia, Complementation Group I
Pallor, Neutropenia OMIM:609053
Menkes Disease
Gastrointestinal hemorrhage, Intracranial hemorrhage, Spontaneous hematomas, Prolonged neonatal j... ORPHA:565
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase level, Thrombocytosis, Congenital hypoplastic anemia, Neutr... OMIM:105650
Methylmalonic Aciduria, Cblb Type
Neutropenia, Hepatomegaly, Thrombocytopenia, Pancytopenia, Anemia OMIM:251110
Lassa Fever
Thrombocytopenia, Leukopenia, Gastrointestinal hemorrhage ORPHA:99824
Dravet Syndrome
Pallor ORPHA:33069
Avian Influenza
Elevated hepatic transaminase, Lymphopenia, Thrombocytopenia, Hepatitis, Congestive heart failure... ORPHA:454836
Meningioma
Focal T2 hypointense thalamic lesion, Enlarged pituitary gland, Hypothalamic hypothyroidism, Lowe... ORPHA:2495
Fanconi Anemia, Complementation Group V
Thrombocytopenia, Neutropenia, Anemia OMIM:617243
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Pulmonary venous hypertension, Anemia, Leukocytosis ORPHA:90060
Congenital Disorder Of Glycosylation, Type Iig
Thrombocytopenia, Anemia OMIM:611209
Shigellosis
Peritonitis, Microangiopathic hemolytic anemia, Purpura, Splenic abscess, Leukocytosis, Cholestas... ORPHA:810
Pituitary Apoplexy
Hypotension, Normochromic anemia, Pallor, Hypertension ORPHA:95613
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Gaucher Disease, Perinatal Lethal
Purpura, Hepatomegaly, Thrombocytopenia, Petechiae, Hepatic failure, Splenomegaly, Anemia, Hepato... OMIM:608013
Sheehan Syndrome
Palpitations, Orthostatic hypotension, Bradycardia, Normochromic anemia, Pallor, Dry skin ORPHA:91355
Blue Rubber Bleb Nevus
Prolonged bleeding time, Intestinal bleeding ORPHA:1059
Fanconi Anemia, Complementation Group C
Anemic pallor, Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia, Leukemia, ... OMIM:227645
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Pancreatic cysts, Periportal fibrosis, Biliary hyperplasia, Cholesta... ORPHA:731
Methylmalonic Aciduria, Cbla Type
Neutropenia, Hepatomegaly, Thrombocytopenia, Pancytopenia, Anemia OMIM:251100
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Thrombocytopenia, Pancytopenia, Anemia, Splenomegaly OMIM:259700
Immunodeficiency, Common Variable, 8, With Autoimmunity
Psoriasiform lesion, Decreased proportion of class-switched memory B cells, Autoimmune thrombocyt... OMIM:614700
Rare Circulatory System Disease
Pallor, Intermittent claudication ORPHA:98028
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Pure red cell aplasia, Thrombo... ORPHA:124
Adenohypophysitis
Normochromic anemia, Pallor, Orthostatic hypotension ORPHA:95512
Medulloblastoma
Cerebellar hemorrhage, Elevated hepatic transaminase ORPHA:616
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune thrombocytopenia, Renovascular hypertension, Autoimmune hemolytic anemia, Lymphopenia,... ORPHA:391487
Retinitis Pigmentosa 75
Pallor OMIM:617023
Superficial Siderosis
Persistent bleeding after trauma, Abnormal bleeding, Internal hemorrhage, Enlarged sylvian cister... ORPHA:247245
Fanconi Anemia, Complementation Group D2
Anemic pallor, Patent ductus arteriosus, Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocyt... OMIM:227646
Incontinentia Pigmenti
Leukocytosis, Erythema, Retinal hemorrhage, Pallor, Eosinophilia OMIM:308300
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Thrombocytopenia, Hemolytic anemia, Splenomegaly ORPHA:169090
Kyphoscoliotic Ehlers-Danlos Syndrome
Antenatal intracerebral hemorrhage, Subdural hemorrhage, Umbilical hernia, Cerebral hemorrhage, S... ORPHA:536545
Non-Functioning Pituitary Adenoma
Hypotension, Pallor, Anemia of inadequate production ORPHA:91349
Hutchinson-Gilford Progeria Syndrome
Aortic regurgitation, Premature skin wrinkling, Angina pectoris, Intracranial hemorrhage, Mitral ... ORPHA:740
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:612783
Ghosal Hematodiaphyseal Dysplasia
Thrombocytopenia, Leukopenia, Refractory anemia OMIM:231095
Panhypophysitis
Normochromic anemia, Pallor, Orthostatic hypotension ORPHA:95513
Noonan Syndrome 4
Abnormal bleeding, Thrombocytopenia, Pulmonic stenosis, Bruising susceptibility, Hypertrophic car... OMIM:610733
Epilepsy, Hearing Loss, And Mental Retardation Syndrome
Thrombocytopenia OMIM:616577
Stt3B-Cdg
Thrombocytopenia ORPHA:370924
Cockayne Syndrome Type 3
Elevated hepatic transaminase, Subdural hemorrhage, Stroke, Hepatomegaly, Increased blood pressur... ORPHA:90324
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Leukocytosis, Hypertensive crisis, Hypertension, Thrombocytopenia, Pancreatitis... ORPHA:544482
Mevalonic Aciduria
Fluctuating hepatomegaly, E