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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
Anemia, Purpura, Cerebral hemorrhage, Pulmonary embolism OMIM:614514
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Abnormal cerebral vascular morphology, Pulmonary embolism, Venous insufficiency, Skin ulcer, Subc... 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
phenotypes		 Matching phenotypes Source
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Purpura, Epistaxis, Decreased platelet glyc... OMIM:273800
Cerebral Cavernous Malformations
Intracranial hemorrhage, Hepatic vascular malformations, Cerebral cavernous malformation OMIM:116860
Aneurysm, Intracranial Berry, 12
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... OMIM:618734
Acute Peripheral Arterial Occlusion
Myocardial infarction, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse, Stroke, P... ORPHA:90064
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia ORPHA:46532
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Abnormal bleeding, Prolonged bleeding time, Epistaxis, Thrombocytope... OMIM:231200
Moyamoya Disease With Early-Onset Achalasia
Abnormal cerebral vascular morphology, Raynaud phenomenon, Abnormal platelet aggregation, Hyperte... ORPHA:401945
Afibrinogenemia, Congenital
Abnormal bleeding, Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Splenic rupture... OMIM:202400
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Internal Carotid Absence
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage ORPHA:981
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Petechiae, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruisi... ORPHA:3002
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Aneurysm, Intracranial Berry, 2
Cerebral berry aneurysm, Subarachnoid hemorrhage OMIM:608542
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Prolonged bleeding time, Increased RBC distribution width, Epi... OMIM:314050
Platelet Signal Processing Defect
Abnormal bleeding, Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induce... OMIM:173590
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Thrombocytopenia 7
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Pos... OMIM:619130
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Leukocyte inclusion bodies, Prolonged bleeding time, Epistaxis, Myocardial inf... OMIM:155100
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Abnormal bleeding, Anemia ... ORPHA:75564
Acquired Purpura Fulminans
Shock, Pyoderma gangrenosum, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura... ORPHA:49566
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet functio... ORPHA:231393
Familial Cervical Artery Dissection
Striae distensae, Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, ... ORPHA:36382
Evans Syndrome
Autoimmune hemolytic anemia, Epistaxis, Autoimmune thrombocytopenia, Jaundice, Neutropenia in pre... ORPHA:1959
Bleeding Disorder, Platelet-Type, 19
Abnormal bleeding, Epistaxis, Macrothrombocytopenia, Anemia, Spontaneous hematomas, Menorrhagia, ... OMIM:616176
Preeclampsia/Eclampsia 1
Elevated hepatic transaminase, Hypertension, Thrombocytopenia OMIM:189800
Thrombocytopenia 2
Leukocytosis, Bruising susceptibility, Thrombocytopenia OMIM:188000
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Prolonged bleeding time, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acu... ORPHA:3226
Acute Myelomonocytic Leukemia
Abnormal bleeding, Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia ORPHA:517
Immune Thrombocytopenia
Abnormal bleeding, Thrombocytopenia OMIM:188030
Congenital Factor Ii Deficiency
Abnormal bleeding, Epistaxis, Prolonged bleeding after dental extraction, Prolonged bleeding foll... ORPHA:325
Gray Platelet Syndrome
Abnormal bleeding, Abnormality of thrombocytes, Epistaxis, Splenomegaly, Bruising susceptibility,... ORPHA:721
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Anemia, Purpura, Cerebral hemorrhage, Pulmonary embolism OMIM:614514
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Abnormal bleeding, Subarachnoid hemorrhage, Neonatal alloimmune thro... ORPHA:853
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Death in infancy, Abnormality of the spleen, Splenomegaly, Intracrani... ORPHA:85212
Bleeding Disorder, Platelet-Type, 16
Abnormal bleeding, Petechiae, Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet ... OMIM:187800
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Skin ulcer, Anemia... ORPHA:848
Hemochromatosis, Neonatal
Abnormal bleeding, Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged n... OMIM:231100
Bleeding Disorder, Platelet-Type, 9
Bruising susceptibility, Thrombocytopenia OMIM:614200
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver, Subcutaneous hemorrhage, Thrombocytopenia ORPHA:1980
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... OMIM:619897
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Megaloblastic anemia, Paroxysmal atrial tachycardia, Congestive heart failure, St... ORPHA:49827
Congenital Factor Xiii Deficiency
Epistaxis, Cerebral hemorrhage, Prolonged bleeding after dental extraction, Prolonged bleeding af... ORPHA:331
Cerebral Amyloid Angiopathy, Cst3-Related
Intracranial hemorrhage, Stroke, Cerebral hemorrhage OMIM:105150
Cerebral Cavernous Malformations 2
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia OMIM:603284
Bleeding Disorder, Platelet-Type, 17
Gastrointestinal hemorrhage, Abnormal bleeding, Prolonged bleeding time, Increased RBC distributi... OMIM:187900
Bleeding Disorder, Platelet-Type, 24
Abnormal bleeding, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platele... OMIM:619271
Circumvallate Placenta Syndrome
Intracranial hemorrhage OMIM:215550
Sea-Blue Histiocyte Disease
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... OMIM:269600
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d... OMIM:137560
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Epistaxis, Abnormal platelet count, Menorrhagia, Impaired collagen-induc... OMIM:614201
Abetal34V Amyloidosis
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage ORPHA:324703
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Thrombocytopenia OMIM:166990
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Congestive heart failure, Micronodular c... ORPHA:139507
Glanzmann Thrombasthenia 2
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, ... OMIM:619267
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Pallor, ... ORPHA:163596
Factor Xiii, A Subunit, Deficiency Of
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... OMIM:613225
Snakebite Envenomation
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Erythema, Intracranial hemorrha... ORPHA:449285
Hemophilia A
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Splenic rupture, Intracranial hemorrhag... ORPHA:98878
Dengue Fever
Gastrointestinal hemorrhage, Hepatomegaly, Petechiae, Epistaxis, Cerebral hemorrhage, Leukopenia,... ORPHA:99828
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Prolonged bleeding time, Giant platelets, Thrombocytopenia OMIM:608404
Bleeding Disorder, Platelet-Type, 20
Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia OMIM:613554
Primary Myelofibrosis
Abnormal bleeding, Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Petechiae, Portal hy... ORPHA:824
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Myocardial infarction, Splenomegaly, Increased hemoglobin, Increased red blo... OMIM:133100
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Petechiae, Epistaxis, Portal hypertension, Nodular r... OMIM:619463
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggregation, Thromb... OMIM:124900
Non-Involuting Congenital Hemangioma
Prominent superficial veins, Peripheral arteriovenous fistula, Telangiectasia of the skin, Conges... ORPHA:141179
Glanzmann Thrombasthenia
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Prolonged bleeding time, Purpura, ... ORPHA:849
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Petechiae, Epistaxis, Increased mean platelet volume, Splenomegaly, Thrombocyto... OMIM:153670
Congenital Factor V Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after dental extraction, Prolonged ble... ORPHA:326
Von Willebrand Disease, Type 3
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Joint hemorrhage, Prolonged bleeding after... OMIM:277480
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Slc35A1-Cdg
Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage, Giant platelets, Neutropenia... ORPHA:238459
Factor X Deficiency
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... OMIM:227600
Familial Afibrinogenemia
Abnormal bleeding, Miscarriage, Epistaxis, Cerebral hemorrhage, Gingival bleeding ORPHA:98880
Hemophilia B
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Joint hemorrhage, Prolonged bleeding a... ORPHA:98879
Carcinoid Syndrome
Elevated hepatic transaminase, Tricuspid regurgitation, Right ventricular failure, Heart murmur, ... ORPHA:100093
Stuve-Wiedemann Syndrome 2
Congestive heart failure, Death in adolescence, Stillbirth, Neonatal death, Pulmonary arterial hy... OMIM:619751
Gray Platelet Syndrome
Abnormal bleeding, Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epist... OMIM:139090
Reversible Cerebral Vasoconstriction Syndrome
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... ORPHA:284388
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Abnorm... ORPHA:507
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after dental ... ORPHA:328
Severe Hemophilia A
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Su... ORPHA:169802
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated hepatic transaminase, Sideroblastic anemia, Hepatomegaly, Pallor, Hypertrophic cardiomyo... OMIM:613561
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Epistaxi... ORPHA:99147
Thrombocytopenia 5
Petechiae, Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscula... OMIM:616216
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Death in infancy, Sudden cardiac death, Hepatocellular necrosis, Periportal fibrosi... OMIM:201475
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Platelet anisocytosis, Epistaxis, Increased mean platelet volume OMIM:615193
Myh9-Related Disease
Elevated hepatic transaminase, Spontaneous, recurrent epistaxis, Prolonged bleeding time, Increas... ORPHA:182050
Pediatric Hepatocellular Carcinoma
Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis ORPHA:33402
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Dilated cardiomyopathy, Hepatic necrosis, Hypertrophic cardiomyopathy,... OMIM:231530
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Post-partum hemorrh... ORPHA:98870
Rapidly Involuting Congenital Hemangioma
Prominent superficial veins, Peripheral arteriovenous fistula, Telangiectasia of the skin, Conges... ORPHA:141184
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Factor Vii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... OMIM:227500
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Abnormal bleeding, Portal hypertensio... ORPHA:64743
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Abnormality of the liver, Pallor, Elevated hepatic iron concentrati... ORPHA:231222
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Gastrointestinal hemorrhage, Epidural hemorrhage, Miscarriage, Epistaxis, Prolonged bleeding afte... ORPHA:465
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Abeta Amyloidosis, Iowa Type
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage ORPHA:324708
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Splenomegaly, Pallor, Anemia ORPHA:75563
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Joint hemorrhage, Prolonged bleeding after surgery, Prolo... ORPHA:35909
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Retinal telangiectasia, Pulmo... ORPHA:774
Quebec Platelet Disorder
Epistaxis, Menorrhagia, Bruising susceptibility, Joint hemorrhage, Thrombocytopenia, Impaired epi... OMIM:601709
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... OMIM:251880
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Prolonged bleeding time, Acute monocytic leukemia, Epistaxis, Bruising su... OMIM:601399
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Elevated hepatic transaminase, Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged proth... OMIM:277450
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis... OMIM:615888
Transaldolase Deficiency
Hepatosplenomegaly, Anemia, Telangiectasia, Coarctation of aorta, Cirrhosis, Premature skin wrink... ORPHA:101028
Brain Small Vessel Disease 2
Intracranial hemorrhage, Ventriculomegaly OMIM:614483
Moderate Hemophilia A
Gastrointestinal hemorrhage, Abnormal bleeding, Epidural hemorrhage, Prolonged bleeding after den... ORPHA:169805
Refractory Anemia
Normocytic anemia, Abnormal bleeding, Abnormal cardiac ventricular function, Macrocytic anemia, A... ORPHA:98826
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Varicose veins, Increas... OMIM:263400
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Diffuse pancreatic islet hyperplasia, H... ORPHA:276556
Aicardi-Goutieres Syndrome 3
Elevated hepatic transaminase, Death in childhood, Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Pallor, Poikilocytosis, Elevated h... OMIM:615234
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Diffuse pancreatic islet hyperplasia, H... ORPHA:276575
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia, Purpura ORPHA:529
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Thrombocytopenia, Hepatic necrosis, Leukopenia, Increased mean corpuscular volum... OMIM:127550
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Patent ductus arter... ORPHA:60041
Isovaleric Acidemia
Thrombocytopenia, Leukopenia, Cerebellar hemorrhage, Pancytopenia OMIM:243500
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Death in infancy, Congestive heart failure, Microvesicular hepatic... OMIM:611126
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart failure, Pallor ORPHA:90037
Breath-Holding Spells
Iron deficiency anemia, Pallor OMIM:607578
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Hyper... ORPHA:136
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Bruising susceptibili... OMIM:300367
Sneddon Syndrome
Cerebral hemorrhage, Hypertension, Stroke, Ischemic stroke, Lymphopenia OMIM:182410
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Pa... OMIM:613839
Athrombia, Essential
Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion OMIM:209050
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Sudden cardiac death, Congestive heart fail... ORPHA:99901
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Diffuse pancreatic islet hyperplasia, H... ORPHA:276580
Amegakaryocytic Thrombocytopenia, Congenital, 1
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia OMIM:604498
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Epistaxis, Impaired platelet adhesion, Autoimmune thrombocytopenia, ... ORPHA:324636
Moyamoya Disease 6 With Or Without Achalasia
Raynaud phenomenon, Hypertension, Ischemic stroke, Thrombocytopenia, Moyamoya phenomenon OMIM:615750
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... ORPHA:822
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... ORPHA:79
Alpha-Thalassemia-Myelodysplastic Syndrome
Abnormal bleeding, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, Bruising suscept... ORPHA:231401
Niemann-Pick Disease, Type B
Hepatomegaly, Foam cells with lamellar inclusion bodies, Bone-marrow foam cells, Thrombocytopenia... OMIM:607616
Sneddon Syndrome
Intracranial hemorrhage, Hypertension, Arterial stenosis ORPHA:820
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Neonatal Lupus Erythematosus
Prolonged QT interval, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Elevated he... ORPHA:398124
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Acute hepatic failure, Elevated hepatic transaminase, Dilated cardiomyopat... ORPHA:71212
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Tempi Syndrome
Facial erythema, Intracranial hemorrhage, Telangiectasia, Increased hematocrit, Polycythemia ORPHA:284227
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy... ORPHA:906
Catastrophic Antiphospholipid Syndrome
Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o... ORPHA:464343
Familial Multiple Nevi Flammei
Pulmonary embolism, Venous insufficiency, Skin ulcer, Intracranial hemorrhage, Arteriovenous malf... ORPHA:624
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Acute Liver Failure
Shock, Gastrointestinal hemorrhage, Elevated hepatic transaminase, Abnormal bleeding, Jaundice, H... ORPHA:90062
Fetal Parvovirus Syndrome
Thrombocytopenia, Hypertrophic cardiomyopathy, Anemia ORPHA:295
Pseudo-Torch Syndrome 3
Death in infancy, Cerebral hemorrhage, Leukocytosis, Hypertension, Congenital thrombocytopenia, A... OMIM:618886
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Pseudo-Torch Syndrome 2
Elevated hepatic transaminase, Hepatomegaly, Petechiae, Cerebral hemorrhage, Patent ductus arteri... OMIM:617397
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart failure, Jaundice, Chron... ORPHA:90033
Stormorken Syndrome
Abnormal bleeding, Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Thrombocyto... OMIM:185070
Peripheral Cone Dystrophy
Pallor OMIM:609021
Imerslund-Gräsbeck Syndrome
Abnormal bleeding, Reticulocytosis, Tachycardia, Macrocytic anemia, Pancytopenia, Megaloblastic a... ORPHA:35858
Preeclampsia
Elevated hepatic transaminase, Elevated diastolic blood pressure, Hypertension, Elevated systolic... ORPHA:275555
Babesiosis
Hemolytic anemia, Hepatomegaly, Myocardial infarction, Congestive heart failure, Splenomegaly, Ja... ORPHA:108
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... OMIM:605714
Cholesteryl Ester Storage Disease
Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Hepatic steatosis, H... OMIM:278000
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor ORPHA:324575
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time, Ecchymosis, Bruising susceptibility, Epistaxis OMIM:614158
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly, Iron deficiency anem... ORPHA:99931
Mitochondrial Trifunctional Protein Deficiency 2
Death in infancy, Tricuspid regurgitation, Elevated circulating aspartate aminotransferase concen... OMIM:620300
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Abnor... ORPHA:464321
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Pancreatic islet-cell hyperplasia, Pallor ORPHA:276608
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Cerebellar hemorrhage, Cardiomyopathy, Leukopenia, Neutropenia, Pancreatitis, Throm... OMIM:251000
Propionic Acidemia
Hepatomegaly, Pancytopenia, Cerebellar hemorrhage, Anemia, Cardiomyopathy, Neutropenia, Pancreati... OMIM:606054
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Systemic Lupus Erythematosus 17
Autoimmune thrombocytopenia, Raynaud phenomenon, Thrombocytopenia, Leukopenia, Mitral regurgitati... OMIM:301080
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Abnormal bleeding, Petechiae, Hema... ORPHA:274
Non-Functioning Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... ORPHA:94080
Idiopathic Aplastic Anemia
Pancytopenia, Epistaxis, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Gingival bleedi... ORPHA:88
Essential Thrombocythemia
Prolonged bleeding time, Transient ischemic attack, Abnormality of thrombocytes, Myocardial infar... ORPHA:3318
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Splenomegaly, Anemia, Cardiomyopathy, Stroke, Neutropenia, Pancreatitis, Thrombocyt... ORPHA:79312
Dural Sinus Malformation
Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Cerebellar hemorrhage, Hydrocephalus, S... ORPHA:97339
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Myocardial infarction, Stroke, Microangiopathic hemolytic anemia, Arrhythmia, Th... ORPHA:54057
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia, Death in infancy OMIM:619302
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy, Decreased liver function, Thrombocytopenia ORPHA:67048
Platelet Disorder, Undefined
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Aicardi-Goutieres Syndrome 4
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Deat... OMIM:610333
Elliptocytosis 1
Hemolytic anemia, Splenomegaly, Jaundice, Elliptocytosis, Pallor OMIM:611804
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Subcutaneous hemorrhage, Macrothrombocytopenia, Neutropenia, Decreased plat... OMIM:603585
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Jaundice, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia OMIM:603552
Rhabdoid Tumor
Anemia, Hypertension, Neoplasm of the liver, Internal hemorrhage, Thrombocytopenia ORPHA:69077
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... OMIM:610655
American Trypanosomiasis
Hepatomegaly, Myocarditis, Congestive heart failure, Splenomegaly, Cardiomyopathy, Pallor, Arrhyt... ORPHA:3386
Capillary Malformation-Arteriovenous Malformation
Abnormal bleeding, Peripheral arteriovenous fistula, Epistaxis, Cerebral arteriovenous malformati... ORPHA:137667
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... ORPHA:31825
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Stroke, Cerebral hemorrhage OMIM:300049
Primary Angiitis Of The Central Nervous System
Intracranial hemorrhage, Stroke, Transient ischemic attack, Cerebral vasculitis ORPHA:140989
Wyburn-Mason Syndrome
Peripheral arteriovenous fistula, Epistaxis, Subarachnoid hemorrhage, Abnormal cerebral vascular ... ORPHA:53719
Pontocerebellar Hypoplasia, Type 14
Death in infancy, Chronic neutropenia, Thrombocytopenia OMIM:619301
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... OMIM:300908
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Pallor, Hepatomegaly, Anemia of inadequate produc... ORPHA:231214
Relapsing Fever
Elevated hepatic transaminase, Abnormal bleeding, Tachycardia, Neutrophilia, Epistaxis, Thrombocy... ORPHA:91547
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Abnormal bleeding, Anemic pallor, Anemia of inadequate production, Leukoc... ORPHA:86839
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Hepatomegaly, Eosinophilia,... ORPHA:98849
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypertension,... ORPHA:90065
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia OMIM:188025
Letterer-Siwe Disease
Jaundice, Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia OMIM:246400
Optic Atrophy 1
Pallor OMIM:165500
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia, Ventricular arrhythmia OMIM:141000
Hellp Syndrome
Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat... ORPHA:244242
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke, Coronary artery ather... ORPHA:280679
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Congestive heart failure, Cardio... ORPHA:26791
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Normocytic anemia, Hepatomegaly, Epistaxis, Abnormality of neutrophi... ORPHA:33226
Aicardi-Goutieres Syndrome 6
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly OMIM:615010
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:610539
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, He... ORPHA:210136
Anemia, Sideroblastic, 1
Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro... OMIM:300751
Bleeding Disorder, Platelet-Type, 21
Abnormal bleeding, Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Men... OMIM:617443
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Abnormal mast cell morphology ORPHA:398189
Aregenerative Anemia
Abnormal bleeding, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Pallor, Neutropenia, De... ORPHA:101096
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Pallor OMIM:611590
Sea-Blue Histiocytosis
Abnormal bleeding, Hepatomegaly, Petechiae, Splenomegaly, Sea-blue histiocytosis, Thrombocytopenia ORPHA:158029
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Death in infanc... OMIM:619644
Cold Agglutinin Disease
Splenomegaly, Hemolytic anemia, Pallor, Hepatomegaly ORPHA:56425
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Leigh Syndrome
Hepatocellular necrosis OMIM:256000
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decrea... ORPHA:300298
Sepsis In Premature Infants
Abnormal bleeding, Hepatomegaly, Tachycardia, Petechiae, Thrombocytopenia, Leukocytosis, Splenome... ORPHA:90051
Spontaneous Periodic Hypothermia
Arrhythmia, Pallor ORPHA:29822
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage ORPHA:84090
Hermansky-Pudlak Syndrome 5
Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Impaired ADP-induced platelet... OMIM:614074
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture, Subdural hemorrhage, L... OMIM:618291
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... OMIM:600376
Myelofibrosis
Splenomegaly, Pallor, Myeloproliferative disorder, Purpura OMIM:254450
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Petechiae, Eosinophilia, ... OMIM:603909
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim... ORPHA:331206
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Vasculitis, Lymph... OMIM:308240
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... OMIM:256810
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Petechiae, Splenomegaly, Thrombocytopenia, Anemia OMIM:611490
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Thrombocytopenia, Splenomegaly, Hypertensio... OMIM:230800
Menkes Disease
Intracranial hemorrhage, Cutis laxa, Death in childhood OMIM:309400
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Microvesicular hepatic steatosis, ... OMIM:618278
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Neonatal death, Hepatic periportal necrosis, Hepatic steatosis OMIM:231680
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Pancreatic cysts, Thrombocytopenia, Splenomega... ORPHA:464329
Extracranial Carotid Artery Aneurysm
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Upper limb muscle weakness, ... ORPHA:494424
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Thrombocytopenia, Cardiomyopathy, Leukopenia, Pancreatitis, Anemia ORPHA:27
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Thrombocytopenia 3
Thrombocytopenia, Petechiae, Epistaxis, Decreased mean platelet volume OMIM:273900
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Vascular calcification OMIM:231000
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Thrombocytopenia, Patent du... OMIM:617021
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abdominal aortic aneurysm... ORPHA:91387
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... OMIM:614727
Acute Promyelocytic Leukemia
Abnormal bleeding, Pancytopenia, Petechiae, Epistaxis, Diffuse alveolar hemorrhage, Thrombocytope... ORPHA:520
Prothrombin Deficiency, Congenital
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... OMIM:613679
Parkes Weber Syndrome
Abnormal bleeding, Peripheral arteriovenous fistula, Subarachnoid hemorrhage, Cerebral arterioven... ORPHA:90307
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Cardiac arrest, Leukocytosis, Di... ORPHA:20
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibro... OMIM:557000
Cyclic Vomiting Syndrome
Cardiomyopathy, Pallor OMIM:500007
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Pallor, Anemia, Death in childhood OMIM:246450
Mirage Syndrome
Petechiae, Thrombocytopenia, Patent ductus arteriosus, Intracranial hemorrhage, Leukopenia, Hypop... OMIM:617053
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Cardiomyopathy, Stroke, Arrhythmi... OMIM:249270
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology ORPHA:3032
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Patent ductus arteriosus, Anemia, Hepatomegaly ORPHA:2123
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Splenomegaly, Micronodular cirrhosis, Patent ductus arteriosus, Hepat... OMIM:606003
Vascular Hyalinosis
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage OMIM:277175
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Leukopenia, Cholecystitis, Ecchymosis, I... ORPHA:99827
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Transient ischemic attack, Myocardial infarction, Jaundice, Schistocytosis, Stro... OMIM:274150
Factor V Deficiency
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B... OMIM:227400
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Pallor, Neutrophilia, Raynaud phenomeno... ORPHA:3260
Leukoencephalopathy With Calcifications And Cysts
Stroke, Cerebral hemorrhage ORPHA:542310
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, ... ORPHA:98850
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Anemia, Thrombocytopenia ORPHA:858
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Anemia, Neutropenia OMIM:614082
Noonan Syndrome 12
Lymphopenia, Tetralogy of Fallot, Thrombocytopenia, Supravalvular aortic stenosis OMIM:618624
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Diffuse alveolar hemorrhage, Splenomegaly, Anemia, Reduced natural killer cell coun... OMIM:616050
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Autoimmune hemolytic anemia, Pallor ORPHA:90036
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... ORPHA:905
Hypophosphatasia, Infantile
Intracranial hemorrhage, Death in infancy, Stillbirth, Anemia OMIM:241500
Abeta Amyloidosis, Dutch Type
Death in early adulthood, Stroke, Cerebral hemorrhage ORPHA:100006
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Caroli Syndrome
Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Abnormal blee... ORPHA:480520
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Prolidase Deficiency
Hepatomegaly, Petechiae, Elevated circulating aspartate aminotransferase concentration, Splenomeg... OMIM:170100
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Hypertension, Epistaxis ORPHA:403
Aspergillosis
Eosinophilia, Hepatitis, Intracranial hemorrhage, Stroke, Neutropenia ORPHA:1163
Acys Amyloidosis
Death in early adulthood, Stroke, Cerebral hemorrhage ORPHA:100008
Aicardi-Goutieres Syndrome 5
Dry skin, Scaling skin, Thrombocytopenia OMIM:612952
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Tricuspid regurgitation, Elevated hepatic tran... OMIM:300972
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
Senior-Loken Syndrome 8
Hepatic cysts, Pancreatic cysts, Pallor, Intrahepatic bile duct dilatation, Vascular dilatation OMIM:616307
Neurocutaneous Melanocytosis
Intracranial hemorrhage, Ventriculomegaly, Meningocele, Dandy-Walker malformation ORPHA:2481
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Pancreatic islet-cell hyperplasia, Pall... ORPHA:263455
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Angina pectoris, Premature o... OMIM:177850
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171420
Familial Hyperaldosteronism Type Ii
Intracranial hemorrhage, Hypertension, Epistaxis ORPHA:404
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after dental ... OMIM:193400
Thrombocytopenia 1
Epistaxis, Decreased mean platelet volume, Intermittent thrombocytopenia, Bruising susceptibility... OMIM:313900
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Hemorrhagic Fever-Renal Syndrome
Shock, Elevated hepatic transaminase, Tachycardia, Petechiae, Epistaxis, Hematemesis, Thrombocyto... ORPHA:340
Irida Syndrome
Intrahepatic cholestasis, Pallor ORPHA:209981
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Dilated cardiomyopathy, Stroke-like episode, Right aortic arch, Hypertension... OMIM:300845
Sengers Syndrome
Cardiac arrest, Sudden cardiac death, Pulmonary arterial hypertension, Hypertrophic cardiomyopath... OMIM:212350
Bone Marrow Failure Syndrome 4
Leukopenia, Thrombocytopenia, Dry skin, Anemia OMIM:618116
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Death in infancy, Abnormal bleeding, S... OMIM:614576
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Death in infancy, Patent ductus arteriosus, Cholestasis, Anemia, Decreased liver fu... OMIM:608104
Lethal Congenital Contracture Syndrome 5
Death in infancy, Subdural hemorrhage, Retinal hemorrhage OMIM:615368
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly OMIM:615085
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hepatocellular carcinoma, Th... ORPHA:158057
Malaria
Anemia, Thrombocytopenia ORPHA:673
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Hemophagocytosis, Anemia OMIM:613101
Autoinflammatory Disease, Systemic, X-Linked
Neutropenia, B lymphocytopenia, Cerebral hemorrhage, Hepatosplenomegaly OMIM:301081
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage ORPHA:251274
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Anemia OMIM:615715
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Pallor, Thrombocytopenia ORPHA:90045
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Lmna-Related Cardiocutaneous Progeria Syndrome
Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral regurgitation, Abnormal i... ORPHA:363618
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Cerebral vasculitis, Eosinophilia, Subarachnoid hemorrhage, Decreased proportion of CD4-positive ... OMIM:243700
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Abnormal bleeding, Thrombocytopenia OMIM:314000
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Beta-Ketothiolase Deficiency
Hepatomegaly, Leukocytosis, Hypertension, Pallor, Hypotension, Thrombocytosis ORPHA:134
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... ORPHA:276621
Congenital Enterovirus Infection
Abnormal bleeding, Abnormal macrophage morphology, Myocarditis, Leukocytosis, Thrombocytopenia, H... ORPHA:292
Tufted Angioma
Anemia, Petechiae, Thrombocytopenia, Purpura ORPHA:1063
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia ORPHA:289916
Blue Rubber Bleb Nevus
Iron deficiency anemia, Intestinal bleeding, Abnormality of the liver, Thrombocytopenia OMIM:112200
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Rheumatic Fever
Pericarditis, Epistaxis, Myocarditis, Erythema, Pallor, Arrhythmia ORPHA:3099
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Pallor, Hypochromic anemia, Erythro... OMIM:600462
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Pyoderma gangrenosum, B lymp... OMIM:150550
Sitosterolemia 1
Abnormal bleeding, Reticulocytosis, Coronary artery atherosclerosis, Carotid artery stenosis, Thr... OMIM:210250
Folate Malabsorption, Hereditary
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:229050
Transcobalamin Deficiency
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia ORPHA:859
Boutonneuse Fever
Elevated hepatic transaminase, Thrombocytopenia, Vasculitis, Leukopenia, Petechiae ORPHA:83313
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Petechiae, Splenomegaly, Jaundice, Anemia, Cholestat... ORPHA:540
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocyt... OMIM:226990
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave ORPHA:231625
Acute Radiation Syndrome
Abnormal bleeding, Skin ulcer, Telangiectasia, Granulocytopenia, Hypotension, Scaling skin, Lymph... ORPHA:454831
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Gingival b... ORPHA:77259
Congenital Rubella Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Patent ductus arteriosus, Anemia, Thrombocytopenia ORPHA:290
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal... OMIM:613011
Joubert Syndrome 14
Encephalocele, Hydrocephalus, Meningocele, Intracranial hemorrhage, Hypertension, Dandy-Walker ma... OMIM:614424
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Aicardi-Goutieres Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Petechiae, Splenomegaly, Vasculitis, Erythema, Cardi... OMIM:225750
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hype... ORPHA:79124
Hermansky-Pudlak Syndrome 7
Prolonged bleeding time, Epistaxis, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggreg... OMIM:614076
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular block, Pulmonary... ORPHA:369929
Thrombocytopenia 6
Abnormal bleeding, Spontaneous, recurrent epistaxis, Thrombocytopenia OMIM:616937
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Myocardial infarction, Pancreatic cysts,... ORPHA:892
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Cerebral arteriovenous malformation, Pulmonary arteriovenous malformation, Telangiecta... OMIM:175050
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Abnormal bleeding, Acute pancreatitis, Hepatitis, Melena, Leukopenia... ORPHA:319218
Wt Limb-Blood Syndrome
Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia OMIM:194350
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Hematochezia, Abnormal bleeding, Anemic pallor, Anemia ORPHA:329971
Specific Granule Deficiency 2
Absent neutrophil specific granules, Death in infancy, Neutropenia, Anemia, Death in childhood, T... OMIM:617475
Atelis Syndrome 1
Leukopenia, Thrombocytopenia, Dry skin, Anemia OMIM:620184
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Death in infancy, Abnormal bleeding, Hepatic... OMIM:208085
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, J... ORPHA:137675
Isolated Agammaglobulinemia
Abnormality of neutrophils, Thrombocytopenia, Skin ulcer, Abnormal lymphocyte morphology, Anemia ORPHA:229717
Kasabach-Merritt Syndrome
Reticulocytosis, Petechiae, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, P... ORPHA:2330
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hepatomegaly, Death in infancy, Death in childhood, Prolonged prothrombin time... OMIM:617941
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Death in infancy, Intraventricular hemorrhage, Death in adolescence, Prolonged prothrombin time, ... OMIM:619055
Drug-Induced Lupus Erythematosus
Pericarditis, Petechiae, Anemia, Prolonged QTc interval, Thrombocytopenia ORPHA:231111
1P31P32 Microdeletion Syndrome
Intraventricular hemorrhage, Ventriculomegaly, Moyamoya phenomenon ORPHA:401986
Hermansky-Pudlak Syndrome 9
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Cog4-Cdg
Elevated hepatic transaminase, Fatal liver failure in infancy, Hepatosplenomegaly, Cirrhosis, Thr... ORPHA:263501
Schimke Immuno-Osseous Dysplasia
Transient ischemic attack, Congestive heart failure, Thrombocytopenia, Hypertension, Decreased pr... ORPHA:1830
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Pallor, Hepatic steatosis ORPHA:348
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Skeletal muscle atrophy, Cerebral hemorrhage, Abnormality of skeletal muscle fiber size, Subdural... OMIM:620278
Classic Homocystinuria
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Pulmonary embolism, Int... ORPHA:394
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated hepatic transaminase, Hepatomegaly, Death in infancy, Elevated circulating aspartate ami... OMIM:608836
Nephrotic Syndrome, Type 7
Hemolytic anemia, Thrombocytopenia OMIM:615008
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Patent ductus arteriosus, Coarctation of aorta, Normochromic anemia, Neutropenia, Pulmonary arter... OMIM:614857
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Normochromic anemia, Bradycardia, Cholelithiasis, Hypertrophic card... OMIM:618775
Hermansky-Pudlak Syndrome 6
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation,... OMIM:614075
Systemic Lupus Erythematosus
Thrombocytopenia, Hemolytic anemia, Pericarditis, Leukopenia OMIM:152700
Aplasia Cutis Congenita
Prolonged bleeding time, Facial palsy, Spinal dysraphism ORPHA:1114
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia OMIM:616435
Combined Oxidative Phosphorylation Deficiency 14
Death in infancy, Copper accumulation in liver, Anemia, Death in childhood, Elevated hepatic iron... OMIM:614946
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Portal hypertension, Congenital hepatic fibrosis, Leukopenia, Arteri... ORPHA:974
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Pediatric-Onset Graves Disease
Elevated hepatic transaminase, Hepatomegaly, Atrial fibrillation, Congestive heart failure, Splen... ORPHA:525731
Macrophage Activation Syndrome
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevat... ORPHA:158061
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Sple... OMIM:232300
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Hepatomegaly, Abnorm... OMIM:214500
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Peripheral arteriovenous fistula, Pulmonary... ORPHA:90308
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Pyoderma gangrenosum, Thrombocytopenia OMIM:616576
Retinitis Pigmentosa 51
Pallor OMIM:613464
Cerebral Visual Impairment
Intracranial hemorrhage, Hydrocephalus, Ischemic stroke ORPHA:447788
Methylmalonic Acidemia With Homocystinuria Type Cblf
Intraventricular hemorrhage, Neutropenia, Reduced number of intrahepatic bile ducts, Megaloblasti... ORPHA:79284
Pseudo-Torch Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Petechiae, Splenomegaly, Jaundice, Patent ductus art... OMIM:251290
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Poikilocytosis, Anemia OMIM:616959
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... ORPHA:29072
Amed Syndrome, Digenic
Acute myeloid leukemia, Anemia, Leukopenia, Persistent left superior vena cava, Thrombocytopenia OMIM:619151
Immunodeficiency 46
Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia OMIM:616738
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:598500
Phosphoglycerate Dehydrogenase Deficiency
Thrombocytopenia, Megaloblastic anemia OMIM:601815
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Patent ductus arteriosus, Heart murmur, Intracranial hemorrhage, Anemia, Inte... ORPHA:163979
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia, Petechiae, Purpura OMIM:605432
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Anemia, Thrombocytopenia, Lymphopenia, Portal hypertension OMIM:620365
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Cirrhosis, Thrombocytopenia OMIM:613987
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Abnormal cerebral vascular morphology, Pulmonary embolism, Venous insufficiency, Skin ulcer, Subc... ORPHA:743
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Renal artery s... OMIM:171300
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Dilated cardiomyopathy, Leukopenia, Hepatic fibrosis, Neutropenia,... OMIM:613989
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Tarp Syndrome
Neonatal death, Hepatic failure, Subdural hemorrhage, Tetralogy of Fallot OMIM:311900
Avian Influenza
Elevated hepatic transaminase, Miscarriage, Congestive heart failure, Hepatitis, Leukopenia, Lymp... ORPHA:454836
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Congestive heart failure, Thrombocytopenia, Splenomegaly, Patent ductus arteriosus,... OMIM:617303
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Abnormal vascular morphology, Myocardi... ORPHA:781
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Leukopenia, Thromboc... ORPHA:381
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Schimke Immunoosseous Dysplasia
Pancytopenia, Transient ischemic attack, Thrombocytopenia, Abnormal T cell morphology, Arterioscl... OMIM:242900
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... ORPHA:90068
3-Methylglutaconic Aciduria, Type Viib
Abnormal bleeding, Congestive heart failure, Leukopenia, Prolonged prothrombin time, Neutropenia,... OMIM:616271
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:616433
Necrotizing Enterocolitis
Shock, Leukocytosis, Peritonitis, Bradycardia, Hypotension, Neutropenia, Thrombocytopenia ORPHA:391673
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Elevated hepatic transaminase, Hepatomegaly, Redundant neck skin, Abnormal left ventricular funct... OMIM:301056
Wolfram Syndrome 1
Sideroblastic anemia, Megaloblastic anemia, Stroke-like episode, Cardiomyopathy, Thrombocytopenia OMIM:222300
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Thrombocytopenia OMIM:616744
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Prolonged bleeding time, Autoimmune h... OMIM:301000
X-Linked Agammaglobulinemia
Hepatitis, Skin ulcer, Anemia, Neutropenia, Thrombocytopenia ORPHA:47
Hemophagocytic Lymphohistiocytosis, Familial, 2
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Hepatosplenome... OMIM:603553
Dravet Syndrome
Pallor ORPHA:33069
Plummer-Vinson Syndrome
Iron deficiency anemia, Pallor, Hypochromic microcytic anemia ORPHA:54028
Blue Rubber Bleb Nevus
Prolonged bleeding time, Intestinal bleeding, Arteriovenous malformation ORPHA:1059
Bannayan-Riley-Ruvalcaba Syndrome
Skeletal muscle atrophy, Angina pectoris, Telangiectasia, Intracranial hemorrhage, Myopathy, Arte... ORPHA:109
Tularemia
Leukocytosis, Thrombocytopenia, Tachycardia, Anemia ORPHA:3392
Felty Syndrome
Hepatomegaly, Pericarditis, Splenomegaly, Anemia, Neutropenia, Abnormal lymphocyte morphology, Th... ORPHA:47612
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure, Thrombocytopenia... ORPHA:508542
Rift Valley Fever
Elevated hepatic transaminase, Abnormal bleeding, Miscarriage, Hematemesis, Jaundice, Retinal hem... ORPHA:319251
Lujo Hemorrhagic Fever
Shock, Elevated hepatic transaminase, Excessive bleeding after a venipuncture, Myocarditis, Leuko... ORPHA:319213
Fanconi Anemia, Complementation Group E
Pancytopenia, Anemic pallor, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Bruising susceptib... OMIM:600901
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Hepatitis, Anemia, Coombs-positive hemolytic anemia, N... OMIM:304790
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia, Death in childhood OMIM:615597
Menkes Disease
Gastrointestinal hemorrhage, Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Sp... ORPHA:565
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Prominent superficial veins, Intermittent thrombocytopenia, Erythroid hypoplasia, T... OMIM:612541
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Absent platelet dense granules, Prolonged bleeding time, Decreased CD4:CD8 ratio, S... OMIM:608233
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Megaloblastic anemia, Pulmonary embolism, Jaundice, Dilated cardiomyopathy, Subdural hemorrhage, ... ORPHA:79282
Arteriovenous Malformations Of The Brain
Cerebral arteriovenous malformation OMIM:108010
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Neu... OMIM:301078
Diamond-Blackfan Anemia
Acute myeloid leukemia, Radial artery aplasia, Pure red cell aplasia, Erythroid hypoplasia, Retic... ORPHA:124
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Splenomegaly, Jaundice, Anemia, Leukopenia, Prolonged prothrombin time, Hemophagocy... OMIM:267700
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Schistocytosis, Hypertension, Microangiopathic hemolytic anemia, Thrombocytopeni... OMIM:235400
Fanconi Anemia, Complementation Group A
Pancytopenia, Anemic pallor, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Bruising susceptib... OMIM:227650
Diamond-Blackfan Anemia 1
Macrocytic anemia, Tricuspid stenosis, Congenital hypoplastic anemia, Congestive heart failure, R... OMIM:105650
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pancytopenia, Thrombocytopenia, Leukopenia, Pulmonary arterial hypertension, Anemia OMIM:613845
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hypertension, Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hypertension, Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hypertension, Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612926
Alg8-Cdg
Elevated hepatic transaminase, Cutis laxa, Anemia, Premature skin wrinkling, Thrombocytopenia ORPHA:79325
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hypertension, Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612924
Overlap Myositis
Elevated hepatic transaminase, Raynaud phenomenon, Hypertension, Leukopenia, Pulmonary arterial h... ORPHA:206572
Yellow Fever
Shock, Abnormal bleeding, Acute pancreatitis, Neutrophilia, Elevated circulating aspartate aminot... ORPHA:99829
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Patent ductus arteriosus, Increased mean platelet volume OMIM:300048
Bacterial Toxic-Shock Syndrome
Shock, Tachycardia, Myocarditis, Peritonitis, Increased circulating myelocyte count, Hepatitis, C... ORPHA:36234
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Medial calcification of large arteries, Autoimmune thrombocytopenia,... ORPHA:391487
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Viral hepatitis, Hepatocellular carcinoma, Abnormal erythrocyte en... ORPHA:101330
Intermediate Osteopetrosis
Thrombocytopenia, Anemia, Hepatosplenomegaly ORPHA:210110
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Petechiae, Splenomegaly, Hepatosplenomegaly, Anemia, Neonatal death, Hepatic failur... OMIM:608013
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Subdural hemorrhage, Retinal hemorrhage, Ventriculomegaly ORPHA:25
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Citrullinemia, Type Ii, Adult-Onset
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... OMIM:603471
Cone-Rod Dystrophy 8
Retinal arteriolar constriction, Pallor OMIM:605549
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hypertension, Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612925
Tay-Sachs Disease
Cherry red spot of the macula, Pallor OMIM:272800
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Leukocytosis, Pulmonary venous hypertension, Anemia ORPHA:90060
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Elevated hepatic transaminase, Pancytopenia, Abnormal bleeding, Ep... ORPHA:167
Fanconi Anemia, Complementation Group I
Pallor, Neutropenia OMIM:609053
Marburg Hemorrhagic Fever
Leukopenia, Abnormal lymphocyte morphology, Internal hemorrhage, Abnormal bleeding, Reticulocytos... ORPHA:99826
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Acute hepatic failure, Elevated hepatic transaminase, Sudden cardiac... ORPHA:537
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia ... OMIM:603554
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Elevated hepatic transaminase, Sudden cardiac... ORPHA:36426
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Hepatomegaly, Splenomegaly, Hepatitis, Chronic hepatitis, Sclerosing cholangiti... OMIM:308230
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... OMIM:169400
Zika Virus Disease
Miscarriage, Thrombocytopenia, Subcutaneous hemorrhage ORPHA:448237
Pituitary Apoplexy
Hypertension, Normochromic anemia, Pallor, Hypotension ORPHA:95613
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Cerebral vasculitis, Leukocytosis, Thrombocytopenia ORPHA:83601
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Myocardial nec... OMIM:260400
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:259710
Sheehan Syndrome
Orthostatic hypotension, Normochromic anemia, Palpitations, Pallor, Bradycardia, Dry skin ORPHA:91355
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
Phace Syndrome
Cerebral arteriovenous malformation, Coarctation of aorta, Aortic root aneurysm, Abnormal carotid... ORPHA:42775
Adenohypophysitis
Orthostatic hypotension, Pallor, Normochromic anemia ORPHA:95512
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... OMIM:301068
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Lysinuric Protein Intolerance
Hepatomegaly, Splenomegaly, Cutis laxa, Anemia, Leukopenia, Hemophagocytosis, Pancreatitis, Throm... OMIM:222700
Fanconi Anemia, Complementation Group C
Pancytopenia, Anemic pallor, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Bruising susceptib... OMIM:227645
Storage Pool Platelet Disease
Abnormal bleeding, Prolonged bleeding time, Decreased mean platelet volume, Acute leukemia OMIM:185050
Superficial Siderosis
Abnormal bleeding, Enlarged sylvian cistern, Lower limb muscle weakness, Subarachnoid hemorrhage,... ORPHA:247245
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Fetal intraventricular hemorrhage, Limb hypertonia OMIM:618480
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Splenomegaly, Pulmonary artery stenosis, Pallor, Pulmonary arterial hypertension, B... ORPHA:667
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cardiomyopathy, Thrombocytopenia OMIM:617710
Combined Oxidative Phosphorylation Deficiency 25
Intraventricular hemorrhage, Ventriculomegaly OMIM:616430
Panhypophysitis
Orthostatic hypotension, Pallor, Normochromic anemia ORPHA:95513
Shigellosis
Myocarditis, Leukocytosis, Peritonitis, Cholestasis, Hypovolemic shock, Microangiopathic hemolyti... ORPHA:810
Non-Functioning Pituitary Adenoma
Anemia of inadequate production, Pallor, Hypotension ORPHA:91349
Cockayne Syndrome Type 3
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Subdural hemorrhage, Retinal hemorrhag... ORPHA:90324
Tangier Disease
Accelerated atherosclerosis, Carotid artery stenosis, Dry skin, Hepatosplenomegaly, Anemia, Coron... ORPHA:31150
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Psoriasiform lesion, Chronic neutropenia, Autoimmune t... OMIM:614700
Arachnoid Cyst
Encephalocele, Enlarged fossa interpeduncularis, Facial palsy, Subarachnoid hemorrhage, Hydroceph... ORPHA:2356
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic... OMIM:259720
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Vasculitis, Decreased mean platelet volume, Hematochezia, Subconjunctival hemorrhage, Lymphocytos... OMIM:617718
Gaucher Disease, Type Ii
Death in infancy, Hepatomegaly, Double aortic arch, Splenomegaly, Anemia, Thrombocytopenia OMIM:230900
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia OMIM:251110
Fanconi Anemia, Complementation Group D2
Pancytopenia, Anemic pallor, Patent ductus arteriosus, Annular pancreas, Reticulocytopenia, Anemi... OMIM:227646
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Patent ductus arteriosus, Anemia, Neutropenia, ... OMIM:277380
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Fumarase Deficiency
Intrahepatic cholestasis, Hepatic failure, Polycythemia, Pallor OMIM:606812
Retinitis Pigmentosa 75
Pallor OMIM:617023
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia OMIM:259700
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Myocarditis, Leukocytosis, Thrombocytopenia, Hypertension, Pallor, Pancreatitis... ORPHA:544482
Proteasome-Associated Autoinflammatory Syndrome 2
B lymphocytopenia, Increased CD4:CD8 ratio, Decreased proportion of memory B cells, Thrombocytopenia OMIM:618048
Hutchinson-Gilford Progeria Syndrome
Aortic regurgitation, Mitral stenosis, Angina pectoris, Myocardial infarction, Transient ischemic... ORPHA:740
Incontinentia Pigmenti
Eosinophilia, Leukocytosis, Erythema, Retinal hemorrhage, Pallor OMIM:308300
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Cholangiocarcinoma, Cholangitis, Portal hypertension, Hypersplenism,... ORPHA:731
Medulloblastoma
Elevated hepatic transaminase, Cerebellar hemorrhage ORPHA:616
Fanconi Anemia, Complementation Group B
Death in infancy, Aplastic anemia, Patent ductus arteriosus, Coarctation of aorta, Thrombocytopenia OMIM:300514
Braddock-Carey Syndrome 2
Thrombocytopenia OMIM:619981
Dpagt1-Cdg
Prolonged QT interval, Hepatomegaly, Elevated hepatic transaminase, Stroke-like episode, Intracra... ORPHA:86309
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... OMIM:619573
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly ORPHA:169090
Kyphoscoliotic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Cerebral hemorrhage, Subdural hemorrhage, Arterial rupture, Myopathy, Um... ORPHA:536545
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Myocardial infarction, Pulmonary embolism, Abnor... ORPHA:447
Immunodeficiency 22
Pericarditis, Capillary leak, Anemia, Decreased proportion of CD4-positive helper T cells, Thromb... OMIM:615758
Farber Disease
Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, CNS foam cells, H... ORPHA:333
Noonan Syndrome 4
Abnormal bleeding, Pulmonic stenosis, Hypertrophic cardiomyopathy, Bruising susceptibility, Throm... OMIM:610733
Hemophagocytic Syndrome Associated With An Infection
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset d... ORPHA:158048
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Thrombocytopenia OMIM:616577
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Leukopenia, Thrombocytopenia OMIM:231095
Brucellosis
Hepatomegaly, Pericarditis, Liver abscess, Transient ischemic attack, Miscarriage, Hypersplenism,... ORPHA:1304
Stt3B-Cdg
Thrombocytopenia ORPHA:370924
Mevalonic Aciduria
Elevated hepatic transaminase, Normocytic hypoplastic anemia, Fluctuating splenomegaly, Fluctuati... OMIM:610377
Nelson Syndrome
Intracranial hemorrhage, Hypertension, Striae distensae ORPHA:199244
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Intraventricular hemorrhage, Hydrocephalus, Ventriculomegaly OMIM:613603
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:612783
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Intracranial hemorrhage, Hypertension ORPHA:90795
Lig4 Syndrome
Acute lymphoblastic leukemia, Pancytopenia, Thrombocytopenia, Telangiectasia OMIM:606593
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Dilatation of the cerebral artery, Bruising susceptibility, Arterial rupture, Thrombocytopenia OMIM:612394
Dyskeratosis Congenita, Autosomal Recessive 1
Pancytopenia, Aplastic anemia, Hepatic fibrosis, Thrombocytopenia OMIM:224230
Cyclic Neutropenia
Cyclic neutropenia, Peritonitis, Decreased eosinophil count, Lymphopenia, Thrombocytopenia ORPHA:2686
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Anemia, Lymphopenia, Thrombocytopenia OMIM:617591
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Hepatomegaly, Hematemesis, Thrombocytopenia, Splenomegaly, Vascul... OMIM:615846
Alternating Hemiplegia Of Childhood
Cardiac conduction abnormality, Cardiomyopathy, Pallor, Abnormal T-wave, Arrhythmia ORPHA:2131
Maternal Uniparental Disomy Of Chromosome 6
Miscarriage, Thrombocytopenia ORPHA:96181
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Hepatomegaly, Decreased heart rate variability, Death in chil... OMIM:619005
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Myocardial infarction, Leukocytosis, Schistocytosis, Peritonitis, Hypertension, ... ORPHA:90038
Recon Progeroid Syndrome
Thrombocytopenia, Dry skin, Scaling skin, Anemia OMIM:620370
Neuroleptic Malignant Syndrome
Elevated hepatic transaminase, Tachycardia, Pulmonary embolism, Thrombocytopenia, Leukocytosis, H... ORPHA:94093
Vexas Syndrome
Macrocytic anemia, Arteritis, Thrombocytopenia OMIM:301054
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Elevated hepatic transaminase, Severe B lymphocytopenia, Portal hypertension, T... OMIM:620005
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Pe... OMIM:617052
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Thrombocytopenia, Excessive wrinkled skin, Anemia ORPHA:3322
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Transient ischemic attack, Epistax... ORPHA:2929
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Telangiectasia of the skin, Abnormality of neutrophils, T... ORPHA:1775
Dyskeratosis Congenita, Autosomal Dominant 3
Pancytopenia, Aplastic anemia, Leukopenia, Dry skin, Thrombocytopenia OMIM:613990
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Pancytopenia, Abnormality of the spleen, Thrombocytopenia, Sple... ORPHA:2072
Leptospirosis
Hepatomegaly, Pericarditis, First degree atrioventricular block, Jaundice, Retinal hemorrhage, He... ORPHA:509
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Retinal telangiectasia, Anemia, Intestinal bleeding, Gastrointestinal telangiectasia, Thrombocyto... OMIM:612199
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia OMIM:251100
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tachycardia, Tricuspid regurgitation, Congestive heart failure, Thrombocytopenia, Patent ductus a... ORPHA:505248
Pediatric Systemic Lupus Erythematosus
Raynaud phenomenon, Leukopenia, Microangiopathic hemolytic anemia, Lymphopenia, Thrombocytopenia ORPHA:93552
Riddle Syndrome
Conjunctival telangiectasia, Intraventricular hemorrhage, Erythema, Telangiectasia, Scaling skin ORPHA:420741
Ivic Syndrome
Leukocytosis, Arrhythmia, Thrombocytopenia ORPHA:2307
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Abnormal bleeding, Hepatic failure, Dry skin, ST segment depression, Hypot... ORPHA:466650
Shwachman-Diamond Syndrome
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... ORPHA:811
Atelis Syndrome 2
Thrombocytopenia, Patent ductus arteriosus, Supravalvar pulmonary stenosis, Vitreous hemorrhage, ... OMIM:620185
Degcags Syndrome
Hepatomegaly, Tachycardia, Pancytopenia, Congenital hypoplastic anemia, Patent ductus arteriosus,... OMIM:619488
Pearson Syndrome
Elevated hepatic transaminase, Reticulocytosis, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, ... ORPHA:699
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Tachycardia, Tricuspid regurgitation, Right ventricular failure, Patent ductus arte... ORPHA:99125
Hydranencephaly
Antenatal intracerebral hemorrhage, Abnormal internal carotid artery morphology, Dilatation of th... ORPHA:2177
Childhood Absence Epilepsy
Pallor ORPHA:64280
Prolactinoma
Pallor, Hypotension ORPHA:2965
Wilson Disease
Acute hepatic failure, Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransf... OMIM:277900
Pituitary Deficiency Due To Rathke Cleft Cysts
Intracranial hemorrhage, Hydrocephalus ORPHA:91350
Primary Sjögren Syndrome
Normocytic anemia, Chronic active hepatitis, Raynaud phenomenon, Vasculitis, Biliary cirrhosis, S... ORPHA:289390
Castleman Disease
Jaundice, Anemia, Decreased mean corpuscular volume, Restrictive cardiomyopathy, Thrombocytopenia ORPHA:160
Myopathy, Mitochondrial, And Ataxia
Pallor OMIM:617675
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Pulmonary arterial hypertension, Thrombocytopenia ORPHA:77261
Hermansky-Pudlak Syndrome 1
Prolonged bleeding time, Epistaxis, Hematochezia, Cardiomyopathy, Gingival bleeding, Ecchymosis, ... OMIM:203300
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Absent circulating B cells OMIM:619693
Kikuchi-Fujimoto Disease
Elevated hepatic transaminase, Hepatomegaly, Myocarditis, Thrombocytopenia, Vasculitis, Splenomeg... ORPHA:50918
Braddock-Carey Syndrome 1
Thrombocytopenia OMIM:619980
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:619525
Liver Disease, Severe Congenital
Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Lymphocytosis, Elevated hepa... OMIM:619991
Deeah Syndrome
Decreased hemoglobin concentration, Hepatomegaly, Death in infancy, Decreased heart rate variabil... OMIM:619004
Multiple Endocrine Neoplasia Type 2
Neoplasm of the liver, Pallor, Palpitations, Hypertensive crisis, Hypertension associated with ph... ORPHA:653
16Q24.3 Microdeletion Syndrome
Mitral regurgitation, Dilated cardiomyopathy, Thrombocytopenia, Increased mean corpuscular volume ORPHA:261250
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Dermal translucency, Atrial fibrillation, Thoracic aortic aneurysm, S... OMIM:613795
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Thrombocytopenia, Anemia, Neutropenia OMIM:614520
Lathosterolosis
Hepatomegaly, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platelet morphology, Hepati... ORPHA:46059
Takenouchi-Kosaki Syndrome
Increased mean platelet volume, Thrombocytopenia, Patent ductus arteriosus, Pulmonic stenosis OMIM:616737
Smith-Kingsmore Syndrome
Thrombocytopenia OMIM:616638
Alg12-Cdg
Elevated hepatic transaminase, Redundant skin, Patent ductus arteriosus, Prolonged prothrombin ti... ORPHA:79324
Diamond-Blackfan Anemia 21
Aortic regurgitation, Erythroid hypoplasia, Thrombocytopenia, Anemia OMIM:620072
Osteogenesis Imperfecta, Type Xvii
Intraventricular hemorrhage, Decreased muscle mass OMIM:616507
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Congestive heart failure, Hypertension, Palpitations, Hypotension, P... ORPHA:91347
Osteogenesis Imperfecta
Aortic regurgitation, Cerebral hemorrhage, Hydrocephalus, Flexion contracture, Noncommunicating h... ORPHA:666
Chronic Visceral Acid Sphingomyelinase Deficiency
Abnormal bleeding, Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Cherry... ORPHA:77293
Gaucher Disease
Abnormal bleeding, Hepatomegaly, Pancytopenia, Death in infancy, Splenomegaly, Cherry red spot of... ORPHA:355
Ogden Syndrome
Peripheral pulmonary artery stenosis, Redundant neck skin, Polycythemia, Redundant skin, Facial w... OMIM:300855
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Spina bifida, Intraventricular hemorrhage, Hydrocephalus, Cardiomyopathy, Pu... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Spina bifida, Intraventricular hemorrhage, Hydrocephalus, Cardiomyopathy, Pu... ORPHA:363958
Meningioma
Facial palsy, Cerebral hemorrhage, Hydrocephalus, Upper limb muscle weakness, Syncope, Lower limb... ORPHA:2495
Holocarboxylase Synthetase Deficiency
Thrombocytopenia ORPHA:79242
Congenital Disorder Of Glycosylation, Type Iig
Thrombocytopenia, Giant platelets, Anemia OMIM:611209
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho... ORPHA:456312
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology ORPHA:1332
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Skeletal muscle hypertrophy, Subdural hemorrhage OMIM:619714
Beemer-Ertbruggen Syndrome
Thrombocytopenia ORPHA:1237
Aicardi-Goutières Syndrome
Elevated hepatic transaminase, Neonatal alloimmune thrombocytopenia, Raynaud phenomenon, Calcific... ORPHA:51
Fanconi Anemia, Complementation Group F
Patent ductus arteriosus, Leukopenia, Thrombocytopenia, Anemia OMIM:603467
Wars2-Related Combined Oxidative Phosphorylation Defect
Cardiomyopathy, Thrombocytopenia ORPHA:572798
21Q22.11Q22.12 Microdeletion Syndrome
Thrombocytopenia, Dry skin, Anemia ORPHA:261323
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortuosity, Hydrocephal... OMIM:175780
Ivic Syndrome
Patent ductus arteriosus, Leukocytosis, Tetralogy of Fallot, Thrombocytopenia OMIM:147750
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Abnormal branching pattern of the aortic arch, L... OMIM:619472
Mogs-Cdg
Hepatomegaly, Thrombocytopenia, Hepatosplenomegaly ORPHA:79330
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Hypochromic microcytic anemia, Thrombocytopenia ORPHA:3240
Alport Syndrome 1, X-Linked
Hypertension, Thrombocytopenia OMIM:301050
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Pancytopenia, Thrombocytopenia, Leukopenia, Elliptocytosis, Pulmonary arterial hype... ORPHA:2785
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Splenomegaly, Micronodular cirrhosis, Hepatic failure, Thrombocytopenia OMIM:301072
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Cholelithiasis, Thrombocytopenia OMIM:263700
Esophageal Atresia
Tetralogy of Fallot, Pallor, Coarctation of aorta ORPHA:1199
Witteveen-Kolk Syndrome
Branchial fistula, Congenital diaphragmatic hernia, Dysplastic corpus callosum, Contracture of th... OMIM:613406
Lysinuric Protein Intolerance
Elevated hepatic transaminase, Hepatomegaly, Abnormal bleeding, Hepatosplenomegaly, Anemia, Leuko... ORPHA:470
Acute Transverse Myelitis
Orthostatic hypotension, Subarachnoid hemorrhage, Upper limb muscle weakness, Hypertension, Dista... ORPHA:139417
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Microcytic anemia, Splenomegaly, Congestive heart fa... OMIM:256040
Trichorhinophalangeal Syndrome, Type Ii
Scapular winging, Internal carotid artery dissection, Myocardial infarction, Cerebral arterioveno... OMIM:150230
Thrombocytopenia-Absent Radius Syndrome
Death in infancy, Eosinophilia, Pancreatic cysts, Leukocytosis, Patent ductus arteriosus, Prolong... OMIM:274000
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Hypertensive crisis, Abnormality of thrombocytes, Retinal arteriolar... ORPHA:567
Sarcoidosis
Hemolytic anemia, Abnormal cardiac ventricular function, Hepatomegaly, Eosinophilia, Portal hyper... ORPHA:797
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061
Combined Oxidative Phosphorylation Deficiency 55
Thrombocytopenia, Anemia OMIM:619743
Thrombocytopenia-Absent Radius Syndrome
Tetralogy of Fallot, Thrombocytopenia ORPHA:3320
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Thrombocytopenia, Patent ductus arteriosus, Leukopeni... ORPHA:84
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Patent ductus arteriosus, Cerebral hemorrhage OMIM:616682
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Thrombocytopenia ORPHA:457351
Dubowitz Syndrome
Abnormality of neutrophils, Acute lymphoblastic leukemia, Anemia, Dry skin, Thrombocytopenia ORPHA:235
Good Syndrome
Abnormal leukocyte morphology, Thrombocytopenia, Anemia ORPHA:169105
Goodpasture Syndrome
Pallor, Anemia, Pulmonary hemorrhage OMIM:233450
Holocarboxylase Synthetase Deficiency
Thrombocytopenia OMIM:253270
Jacobsen Syndrome
Death in infancy, Annular pancreas, Coarctation of aorta, Aortic valve stenosis, Thrombocytopenia ORPHA:2308
Diaphanospondylodysostosis
Abnormal liver lobulation OMIM:608022
Systemic Lupus Erythematosus
Hemolytic anemia, Raynaud phenomenon, Hypertension, Leukopenia, Thrombocytopenia ORPHA:536
Mosaic Trisomy 9
Asplenia, Patent ductus arteriosus, Abnormal liver lobulation ORPHA:99776
Congenital Erythropoietic Porphyria
Abnormal bleeding, Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Leukopenia, Poi... ORPHA:79277
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:277400
Tick-Borne Encephalitis
Elevated hepatic transaminase, Leukopenia, Leukocytosis, Thrombocytopenia ORPHA:297
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Autoimmune hemolytic anemia, T lymphocytopenia, B lymphocytopenia, T... OMIM:251260
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thrombocytopenia, Patent ductus arteriosus, Total anomalous pulmonary venous return, Increased me... ORPHA:487796
Insulin-Resistance Syndrome Type B
Leukopenia, Biliary cirrhosis, Thrombocytopenia ORPHA:2298
Noonan Syndrome 1
Abnormal bleeding, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Patent duc... OMIM:163950
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Normochromic anemia, Thrombocytopenia OMIM:254900
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Anemia, Leukopenia, Cirrhosis, Thrombocytopenia OMIM:305000
Jacobsen Syndrome
Annular pancreas, Thrombocytopenia OMIM:147791
Fibular Hemimelia
Thrombocytopenia ORPHA:93323
Pmm2-Cdg
Elevated hepatic transaminase, Pericarditis, Angina pectoris, Abnormal liver parenchyma morpholog... ORPHA:79318
Cornelia De Lange Syndrome 1
Thrombocytopenia OMIM:122470
Oculocerebrorenal Syndrome Of Lowe
Anemia, Death in infancy, Skin ulcer, Thrombocytopenia ORPHA:534
Digeorge Syndrome
Splenomegaly, Patent ductus arteriosus, Right aortic arch with mirror image branching, Anemia, Hy... OMIM:188400
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Thrombocytopenia, Acute leukemia ORPHA:647
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Purpura, Pulmonary embolism OMIM:612336
Igg4-Related Dacryoadenitis And Sialadenitis
Retroperitoneal fibrosis, Thrombocytopenia ORPHA:79078
Roberts Syndrome
Thrombocytopenia ORPHA:3103

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Pros1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Pros1.

No publications found that use IMPC mice or data for Pros1.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Pros1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Pros1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Pros1tm45456(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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