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Gene: Clec1b MGI:1913287

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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:
C-type lectin domain family 1, member b
Synonyms:
Clec2,  Clec-2,  1810061I13Rik

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 Clec1b 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Clec1b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... OMIM:619130
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... OMIM:187950
Glanzmann Thrombasthenia 1
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Decreased platelet glycoprotein IIb-II... OMIM:273800
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Angioedema, Hereditary, 3
Facial edema, Intestinal edema, Pharyngeal edema, Angioedema OMIM:610618
Athrombia, Essential
Impaired platelet adhesion, Prolonged bleeding time, Impaired platelet aggregation OMIM:209050
Glanzmann Thrombasthenia 2
Epistaxis, Decreased platelet glycoprotein IIb-IIIa, Impaired clot retraction, Impaired ADP-induc... OMIM:619267
Diamond-Blackfan Anemia 19
Anemia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618312
Platelet Signal Processing Defect
Epistaxis, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired collagen-induced... OMIM:173590
Bleeding Disorder, Platelet-Type, 22
Gastrointestinal hemorrhage, Impaired arachidonic acid-induced platelet aggregation, Impaired ADP... OMIM:618462
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... OMIM:619271
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Immune Thrombocytopenia
Abnormal bleeding, Thrombocytopenia OMIM:188030
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet... ORPHA:231393
Bleeding Disorder, Platelet-Type, 19
Epistaxis, Abnormal bleeding, Spontaneous hematomas, Thrombocytopenia, Anemia, Macrothrombocytope... OMIM:616176
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Thrombocytopenia 9
Abnormal platelet aggregation, Thrombocytopenia OMIM:620478
Bleeding Disorder, Platelet-Type, 18
Epistaxis, Impaired ADP-induced platelet aggregation, Prolonged bleeding time, Impaired epinephri... OMIM:615888
Bleeding Disorder, Platelet-Type, 11
Epistaxis, Abnormal platelet count, Impaired ristocetin-induced platelet aggregation, Impaired co... OMIM:614201
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired arachidonic acid-induced platelet aggregation, Abnormal platelet count, Impaired thrombo... OMIM:614009
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Chylous ascites, Pleural effusion, Nonimmu... OMIM:265300
Bleeding Disorder, Platelet-Type, 9
Bruising susceptibility, Thrombocytopenia OMIM:614200
Bleeding Disorder, Platelet-Type, 15
Epistaxis, Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggrega... OMIM:615193
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Ground-gl... ORPHA:79126
Asbestos Intoxication
Right ventricular failure, Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular ... ORPHA:2302
Pleural Mesothelioma
Respiratory distress, Obstruction of the superior vena cava, Abnormal pleura morphology, Abnormal... ORPHA:50251
Afibrinogenemia, Congenital
Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr... OMIM:202400
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Respiratory distress, Ascites, Tricuspid regurgitation, Pleural effusio... ORPHA:2414
Bernard-Soulier Syndrome
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Giant platelets, Abnormal bleeding, Pr... OMIM:231200
Bleeding Disorder, Platelet-Type, 8
Epistaxis, Abnormal bleeding, Bruising susceptibility, Impaired ADP-induced platelet aggregation,... OMIM:609821
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Epistaxis, Giant platelets, Impaired ADP-induced platelet aggregation, Myocardial infarction, Thr... OMIM:155100
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Thrombocytopenia OMIM:166990
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Abnormal bleeding, Petechiae, Thrombocytopenia, Impaired ... OMIM:187800
Refractory Anemia
Normocytic anemia, Abnormal bleeding, Anemia of inadequate production, Macrocytic anemia, Erythro... ORPHA:98826
Respiratory Distress Syndrome In Premature Infants
Atelectasis, Respiratory distress, Pulmonary edema, Tachypnea, Dyspnea, Edema OMIM:267450
Hydrops Fetalis
Generalized edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetalis, Abnormality ... ORPHA:1041
Bleeding Disorder, Platelet-Type, 25
Bruising susceptibility, Excessive bleeding from superficial cuts, Prolonged bleeding after denta... OMIM:620486
Polycythemia Vera
Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral hemorrhage, Cer... OMIM:263300
Aneurysm, Intracranial Berry, 12
Fusiform cerebral aneurysm, Cerebral berry aneurysm, Subarachnoid hemorrhage, Internal carotid ar... OMIM:618734
Moyamoya Disease With Early-Onset Achalasia
Abnormal cerebral vascular morphology, Moyamoya phenomenon, Abnormal platelet aggregation, Stroke... ORPHA:401945
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
Preeclampsia/Eclampsia 1
Hypertension, Thrombocytopenia OMIM:189800
Thrombocytopenia With Beta-Thalassemia, X-Linked
Epistaxis, Increased RBC distribution width, Bruising susceptibility, Reduced platelet alpha gran... OMIM:314050
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d... OMIM:137560
Pulmonary Nodular Lymphoid Hyperplasia
Ground-glass opacification, Nodular pattern on pulmonary HRCT, Follicular hyperplasia, Dyspnea, M... ORPHA:60026
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Circumvallate Placenta Syndrome
Polyhydramnios, Intracranial hemorrhage OMIM:215550
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Gray Platelet Syndrome
Epistaxis, Abnormality of thrombocytes, Bruising susceptibility, Abnormal bleeding, Splenomegaly,... ORPHA:721
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, Abnormal bleeding, HbH hemoglobin, Bruising susceptibility, Microcytic anemia, Sp... ORPHA:231401
Thrombocytopenia 5
Epistaxis, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Bruising susceptibi... OMIM:616216
Bleeding Disorder, Platelet-Type, 21
Psoriasiform dermatitis, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired pl... OMIM:617443
Bronchopulmonary Dysplasia
Right ventricular failure, Atelectasis, Respiratory distress, Emphysema, Central apnea, Dyspnea, ... ORPHA:70589
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Acute Myelomonocytic Leukemia
Abnormal bleeding, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia ORPHA:517
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Fetal Gaucher Disease
Abnormality of the spleen, Splenomegaly, Death in infancy, Neonatal death, Thrombocytopenia, Stil... ORPHA:85212
Bleeding Disorder, Platelet-Type, 20
Menorrhagia, Epistaxis, Bruising susceptibility, Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Menorrhagia, Epistaxis, Bruising susceptibility, Thrombocytopenia OMIM:613554
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia OMIM:133180
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Abnormal bleeding, Co... ORPHA:75564
Glanzmann Thrombasthenia
Gingival bleeding, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Bruisi... ORPHA:849
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Angioedema, Hereditary, 1
Angioedema, Laryngeal edema, Intestinal edema, Periorbital edema, Pharyngeal edema OMIM:106100
Internal Carotid Absence
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia ORPHA:981
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Bleeding Disorder, Platelet-Type, 12
Epistaxis, Intestinal bleeding, Joint hemorrhage, Impaired platelet aggregation OMIM:605735
Gray Platelet Syndrome
Epistaxis, Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Spl... OMIM:139090
Stuve-Wiedemann Syndrome 2
Congestive heart failure, Neonatal death, Death in adolescence, Pulmonary arterial hypertension, ... OMIM:619751
Fetal Parvovirus Syndrome
Ascites, Hypertrophic cardiomyopathy, Increased nuchal translucency, Thrombocytopenia, Hydrops fe... ORPHA:295
Familial Afibrinogenemia
Gingival bleeding, Epistaxis, Abnormal bleeding, Joint swelling, Cerebral hemorrhage, Miscarriage ORPHA:98880
Hemophilia A
Gastrointestinal hemorrhage, Spontaneous hematomas, Joint swelling, Intracranial hemorrhage, Intr... ORPHA:98878
Hereditary Angioedema Type 1
Facial edema, Tongue edema, Laryngeal edema, Edema of the dorsum of hands, Intestinal edema, Abno... ORPHA:100050
Infant Acute Respiratory Distress Syndrome
Pneumonia, Hypotension, Atelectasis, Respiratory tract infection, Pulmonary edema, Cardiac arrest... ORPHA:70587
Von Willebrand Disease, Type 3
Epistaxis, Abnormal bleeding, Bruising susceptibility, Persistent bleeding after trauma, Prolonge... OMIM:277480
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Immunodeficiency 95
Decreased circulating IgG3 level, Recurrent viral pneumonia, Respiratory distress, Ground-glass o... OMIM:619773
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Giant platelets, Prolonged bleeding time, Thrombocytopenia OMIM:608404
Cardiomyopathy, Familial Restrictive, 6
Restrictive cardiomyopathy, Ascites, Tricuspid regurgitation, Death in infancy, Hepatomegaly, Pul... OMIM:619433
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Prolonged bleeding time, Peripheral arteriovenou... ORPHA:90308
Aneurysm, Intracranial Berry, 1
Dilatation of the cerebral artery, Intracranial hemorrhage OMIM:105800
Trimethylaminuria
Splenomegaly, Neutropenia, Anemia, Tachycardia, Hypertension OMIM:602079
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Tularemia
Pneumonia, Cutaneous abscess, Respiratory distress, Cervical lymphadenopathy, Abnormal nasopharyn... ORPHA:3392
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Gingival bleeding, Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction... OMIM:153670
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia OMIM:205950
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Epistaxis, Bruising susceptibility, Acanthocytosis, Petechiae, Anemia of inadequate production, P... OMIM:300367
Secondary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Intestinal bleeding, Volvulus, Decreased circul... ORPHA:90363
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:619466
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Bruising susceptibility, Lymphedema, Intracranial hemorrhage, Spleno... ORPHA:3226
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia, Dilated cardiomyopathy OMIM:611283
Nephrosialidosis
Ascites, Bone-marrow foam cells, Pericardial effusion, Death in childhood OMIM:256150
Hermansky-Pudlak Syndrome 3
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Spontaneous, recurrent epistaxis, ... OMIM:614072
Amegakaryocytic Thrombocytopenia, Congenital, 1
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Cerebral Cavernous Malformations
Cerebral cavernous malformation, Intracranial hemorrhage OMIM:116860
Von Willebrand Disease, Type 1
Aortic valve stenosis, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged... OMIM:193400
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Erythrocytosis, Familial, 1
Increased hematocrit, Splenomegaly, Increased red blood cell mass, Increased circulating hemoglob... OMIM:133100
Aspergillosis
Pneumonia, Ground-glass opacification, Increased circulating IgE level, Pleural effusion, Parench... ORPHA:1163
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Gaucher Disease Type 2
Abnormal pattern of respiration, Respiratory distress, Splenomegaly, Hepatomegaly, Cardiac arrest... ORPHA:77260
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia, Death in infancy OMIM:254120
Platelet Disorder, Undefined
Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Quebec Platelet Disorder
Epistaxis, Joint hemorrhage, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Immune Thrombocytopenia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Hemorrhage of... ORPHA:3002
Meconium Aspiration Syndrome
Atelectasis, Aspiration pneumonia, Respiratory distress, Transient pulmonary infiltrates, Pneumot... ORPHA:70588
Bleeding Disorder, Platelet-Type, 17
Epistaxis, Gastrointestinal hemorrhage, Increased RBC distribution width, Bruising susceptibility... OMIM:187900
Cardiomyopathy, Familial Hypertrophic, 4
Atrioventricular block, Congestive heart failure, Respiratory distress, Ascites, Hypertrophic car... OMIM:115197
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... OMIM:619897
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Familial Atrial Myxoma
Congestive heart failure, Ascites, Dilatation of the cerebral artery, Tricuspid regurgitation, Ex... ORPHA:615
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Reversible Cerebral Vasoconstriction Syndrome
Vasospasm, Abnormal bleeding, Subdural hemorrhage, Dilatation of the cerebral artery, Transient i... ORPHA:284388
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Thrombocytopenia OMIM:615715
Recurrent Respiratory Papillomatosis
Recurrent pneumonia, Recurrent upper respiratory tract infections, Atelectasis, Respiratory distr... ORPHA:60032
Idiopathic Chronic Eosinophilic Pneumonia
Atopic dermatitis, Atelectasis, Increased circulating IgE level, Pleural effusion, Parenchymal co... ORPHA:2902
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Dyspnea, Dilatation of the cerebral artery, Ascites OMIM:174050
Roch-Leri Mesosomatous Lipomatosis
Purpura, Thrombocytopenia ORPHA:529
Familial Cervical Artery Dissection
Dilatation of the cerebral artery, Transient ischemic attack, Cerebral ischemia, Stroke, Subarach... ORPHA:36382
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly, Neonatal death OMIM:273680
Slc35A1-Cdg
Abnormal bleeding, Giant platelets, Subcutaneous hemorrhage, Pulmonary hemorrhage, Abnormal plate... ORPHA:238459
Bilateral Striopallidodentate Calcinosis
Subcutaneous hemorrhage, Thrombocytopenia ORPHA:1980
Congenital Factor Ii Deficiency
Epistaxis, Prolonged bleeding following circumcision, Abnormal bleeding, Excessive bleeding from ... ORPHA:325
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Pleural effusion, Pneumothorax, Lymphadenopathy, Dyspnea, Pericardial effus... ORPHA:411703
Fanconi Anemia, Complementation Group G
Leukemia, Anemia, Neutropenia, Thrombocytopenia OMIM:614082
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Ascites, Oligohydramnios, Splenomegaly, Aplasia/Hypoplasia of the lungs, Polyhydramnios ORPHA:1046
Pontocerebellar Hypoplasia, Type 15
Anemia, Death in infancy, Chronic neutropenia, Thrombocytopenia OMIM:619302
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Respiratory distress, Ascites, Increased nuchal translucen... OMIM:617300
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Snakebite Envenomation
Gingival bleeding, Epistaxis, Hypotension, Cardiogenic shock, Abnormal bleeding, Angioedema, Cere... ORPHA:449285
Hermansky-Pudlak Syndrome 7
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Persistent bleedi... OMIM:614076
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Epistaxis, Impaired arachidonic acid-induced platelet aggregation, Abnormal dense granule content... OMIM:601399
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Dengue Fever
Gingival bleeding, Epistaxis, Hypotension, Gastrointestinal hemorrhage, Bruising susceptibility, ... ORPHA:99828
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia OMIM:615285
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Respiratory distress, Reduced left ventricula... ORPHA:45452
Moderate Hemophilia A
Gingival bleeding, Gastrointestinal hemorrhage, Abnormal bleeding, Subdural hemorrhage, Spontaneo... ORPHA:169805
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Von Willebrand Disease, Platelet-Type
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Atelectasis, Hilar lymph node enlargement, Tricuspid ... OMIM:620233
Infantile Sialic Acid Storage Disease
Congestive heart failure, Ascites, Splenomegaly, Death in childhood, Hepatomegaly, Hydrops fetalis OMIM:269920
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Kaposiform Lymphangiomatosis
Epistaxis, Subconjunctival hemorrhage, Abnormal bleeding, Bruising susceptibility, Hepatosplenome... ORPHA:464329
Hypocomplementemic Urticarial Vasculitis
Angioedema, Ascites, Emphysema, Pleural effusion, Splenomegaly, Skin rash, Hepatomegaly, Lymphade... ORPHA:36412
Congenital Factor V Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hematochezia, Prolonged bleeding follo... ORPHA:326
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Predominantly lower limb lymphedema, Palmar telangiectasia, Ascites, Pleural effusion, Abnormalit... ORPHA:69735
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Chylothorax, Atelectasis, Lymphedema, Emphysema, Ascites, Pulmonary ... ORPHA:538
Alpha-Heavy Chain Disease
Ascites, Splenomegaly, Dysgammaglobulinemia, Lymphadenopathy, Hepatomegaly ORPHA:100025
Severe Hemophilia A
Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Subdural hemor... ORPHA:169802
Acute Lung Injury
Pneumonia, Diffuse alveolar hemorrhage, Respiratory distress, Shock, Pulmonary infiltrates, Tachy... ORPHA:178320
Portal Hypertension, Noncirrhotic, 2
Epistaxis, Ascites, Portal hypertension, Petechiae, Splenomegaly, Ecchymosis, Thrombocytopenia, H... OMIM:619463
Pyknoachondrogenesis
Stillbirth OMIM:265880
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Centrilobular ground-glass opacification on pulmonary HRCT, Pulmonary venous occlusion, Pulmonary... OMIM:234810
Sialidosis Type 2
Ascites, Splenomegaly, Hepatomegaly, Dyspnea, Hydrops fetalis, Pedal edema ORPHA:87876
Tempi Syndrome
Ascites, Transudative pleural effusion, Abnormality of the pulmonary vasculature, Telangiectasia,... ORPHA:284227
Systemic Lupus Erythematosus 17
Hypertensive crisis, Lymphopenia, Leukopenia, Mitral regurgitation, Raynaud phenomenon, Thrombocy... OMIM:301080
Idiopathic Aplastic Anemia
Gingival bleeding, Epistaxis, Pancytopenia, Retinal hemorrhage, Ecchymosis, Reticulocytopenia, Th... ORPHA:88
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Ascites, Hepatomegaly, Gastrointestinal hemorrhage ORPHA:2198
C1Q Deficiency 2
Discoid lupus rash, Atelectasis, Malar rash, Chilblains, Vasculitis in the skin, Recurrent lower ... OMIM:620321
Capillary Malformation-Arteriovenous Malformation
Epistaxis, Arteriovenous malformation, Chylothorax, Abnormal bleeding, Lymphedema, Congestive hea... ORPHA:137667
Focal Segmental Glomerulosclerosis 1
Ascites, Pleural effusion, Edema, Hypertension OMIM:603278
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Aspiration pneumonia ORPHA:141152
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Ascites, Chylous
Chylous ascites OMIM:208300
Cerebral Amyloid Angiopathy, Cst3-Related
Stroke, Intracranial hemorrhage, Cerebral hemorrhage OMIM:105150
Cernunnos-Xlf Deficiency
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia ORPHA:169079
Abetal34V Amyloidosis
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage ORPHA:324703
Diamond-Blackfan Anemia 16
Anemia, Pulmonic stenosis OMIM:617408
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Facial edema, Angioedema, Respiratory distress, Tongue edema, Abnormal capillary physiology, Lary... ORPHA:100057
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Respiratory distress, Reduce... OMIM:613642
Cerebral Cavernous Malformations 2
Telangiectasia, Cerebral cavernous malformation, Stroke, Cerebral hemorrhage OMIM:603284
Hydrops Fetalis, Nonimmune
Anemia, Congestive heart failure OMIM:236750
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Mediastinal lymphadenopathy, Right ventricular failure, Centrilobula... ORPHA:199241
Sarcoidosis, Susceptibility To, 2
Mediastinal lymphadenopathy, Emphysema, Pleural effusion, Splenomegaly, Pulmonary infiltrates, He... OMIM:612387
Myotubular Myopathy With Abnormal Genital Development
Atelectasis, Respiratory distress, Death in infancy, Neonatal death, Polyhydramnios OMIM:300219
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... OMIM:159550
Acquired Von Willebrand Syndrome
Normocytic anemia, Aortic valve stenosis, Aortic regurgitation, Hypochromic anemia, Gastrointesti... ORPHA:99147
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Atelectasis, Respiratory distress, Dyspnea, Bronchi... ORPHA:922
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Primary Familial Polycythemia
Epistaxis, Abnormal bleeding, Polycythemia, Abnormal hemoglobin ORPHA:90042
Ataxia-Pancytopenia Syndrome
Decreased circulating antibody level, Abnormal platelet function, Splenomegaly ORPHA:2585
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells OMIM:607616
Chromosome 5Q Deletion Syndrome
Erythroid hypoplasia, Refractory macrocytic anemia, Anemia of inadequate production OMIM:153550
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Generalized edema, Pulmonary embolism, Intestinal lymphangiectasia, Ascites, Budd-Chiari syndrome... OMIM:226300
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Exertional dyspnea, Pulmonary fibrosis, Right bundle branch block ORPHA:254361
Congenital Factor Vii Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... ORPHA:327
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Death in childhood, Thrombocytopenia OMIM:610329
Malaria
Anemia, Thrombocytopenia ORPHA:673
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
Factor Xiii, A Subunit, Deficiency Of
Gingival bleeding, Epistaxis, Abnormal bleeding, Bruising susceptibility, Spontaneous hematomas, ... OMIM:613225
Erythrocytosis, Familial, 2
Hypotension, Increased hematocrit, Increased red blood cell mass, Increased circulating hemoglobi... OMIM:263400
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Nephronophthisis
Anemia ORPHA:655
Non-Involuting Congenital Hemangioma
Telangiectasia of the skin, Thrombocytopenia, Congestive heart failure ORPHA:141179
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Anemia, Purpura, Pulmonary embolism, Cerebral hemorrhage OMIM:614514
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Respiratory distress, Cystic pattern on pulmonary HRCT, Ground-glass opacification, ... OMIM:610978
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly OMIM:312500
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti... OMIM:616726
Staphylococcal Necrotizing Pneumonia
Pneumonia, Hypotension, Respiratory distress, Shock, Pleural effusion, Parenchymal consolidation,... ORPHA:36238
Myh9-Related Disease
Giant platelets, Bruising susceptibility, Prolonged bleeding time, Spontaneous, recurrent epistax... ORPHA:182050
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T... ORPHA:231160
Congenital Factor Xiii Deficiency
Gingival bleeding, Epistaxis, Delayed onset bleeding, Prolonged bleeding following circumcision, ... ORPHA:331
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Epidural hemorrhage, Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after dental extr... ORPHA:465
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Decreased circulating antibody level, Bronchiectasis, Atelectasis OMIM:615872
Pseudo-Torch Syndrome 3
Lymphadenitis, Apnea, Death in infancy, Congenital thrombocytopenia, Cerebral hemorrhage, Hyperte... OMIM:618886
Bernard-Soulier Syndrome
Gingival bleeding, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Spont... ORPHA:274
Von Willebrand Disease
Epistaxis, Gastrointestinal hemorrhage, Abnormality of thrombocytes, Bruising susceptibility, Mic... ORPHA:903
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Congestive heart failure, Respiratory distress, Ascites, Hepatosplenomega... ORPHA:367
Pontocerebellar Hypoplasia, Type 14
Death in infancy, Chronic neutropenia, Thrombocytopenia OMIM:619301
Factor X Deficiency
Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge... OMIM:227600
Hemophilia B
Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontaneous, recurrent epist... ORPHA:98879
Combined Deficiency Of Factor V And Factor Viii
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis... ORPHA:35909
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Neonatal alloimmune thrombocytopenia, Abnormal bleeding, Spontaneous... ORPHA:853
Primary Myelofibrosis
Abnormal bleeding, Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, ... ORPHA:824
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Diffuse alveolar hemorrhage, Gastrointestinal hemorrhage, Melena, Abnormal vascular... ORPHA:464321
Autoerythrocyte Sensitization Syndrome
Epistaxis, Gastrointestinal hemorrhage, Impaired platelet adhesion, Edema, Bruising susceptibilit... ORPHA:324636
Immunodeficiency 81
Petechiae, Skin rash, Impaired neutrophil chemotaxis, Reduced antigen-specific T cell proliferati... OMIM:619374
Surfactant Metabolism Dysfunction, Pulmonary, 2
Intralobular septal thickening, Spontaneous pneumothorax, Recurrent pneumonia, Intraalveolar phos... OMIM:610913
Congenital Atransferrinemia
Anemia ORPHA:1195
Niemann-Pick Disease, Type A
Cherry red spot of the macula, Ascites, Foam cells with lamellar inclusion bodies, Splenomegaly, ... OMIM:257200
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia OMIM:603552
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Congenital Alpha2-Antiplasmin Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Hemothorax, Intracranial hemorrhag... ORPHA:79
Factor Vii Deficiency
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged bleeding after dental extraction... OMIM:227500
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Dilated cardiomyopathy, Polyhydramnios OMIM:300580
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis OMIM:300455
Fibronectin Glomerulopathy
Hypertension, Pedal edema, Cerebral hemorrhage ORPHA:84090
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Combined Oxidative Phosphorylation Deficiency 10
Ascites, Hypertrophic cardiomyopathy, Oligohydramnios, Pleural effusion, Bradycardia, Pericardial... OMIM:614702
Hermansky-Pudlak Syndrome 5
Epistaxis, Impaired ADP-induced platelet aggregation, Absent platelet dense granules, Thrombocyto... OMIM:614074
Congenital Toxoplasmosis
Ascites, Hepatomegaly, Lymphadenopathy, Thrombocytopenia ORPHA:858
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Bronchiectasis, Atelectasis OMIM:615294
Thrombocytopenia 10
Decreased mean platelet volume, Abnormal bleeding, Bruising susceptibility, Petechiae, Spontaneou... OMIM:620484
Cirrhotic Cardiomyopathy
Abnormal bleeding, Congestive heart failure, Ascites, Elevated pulmonary artery pressure, Ventric... ORPHA:57777
Diffuse Neonatal Hemangiomatosis
Ascites, Hepatomegaly, Thrombocytopenia, Polyhydramnios, Hydrops fetalis, Patent ductus arteriosus ORPHA:2123
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Cardiomyopathy, Respiratory distress, Splenomegaly, Stroke, Thrombocytopenia, Hepatomegaly, Dehyd... ORPHA:79312
Farber Disease
Recurrent upper respiratory tract infections, Atelectasis, Cherry red spot of the macula, Respira... ORPHA:333
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Reticulocytosis, Arrhythmia, Thrombocytopenia, Myocardial infa... ORPHA:54057
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Splenomegaly, Abnormal hemoglobin, Anemia, Pericarditis ORPHA:163596
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Hypophosphatasia, Infantile
Apnea, Intracranial hemorrhage, Death in infancy, Stillbirth, Polyhydramnios, Recurrent respirato... OMIM:241500
Congenital Factor X Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... ORPHA:328
Aggressive Systemic Mastocytosis
Hypotension, Gastrointestinal hemorrhage, Ascites, Increased proportion of CD25+ mast cells, Hepa... ORPHA:98850
Glycogen Storage Disease Iv
Cardiomyopathy, Ascites, Hepatosplenomegaly, Portal hypertension, Bradycardia, Polyhydramnios, Hy... OMIM:232500
Interstitial Lung Disease 2
Usual interstitial pneumonia, Alveolar cell carcinoma, Increased circulating antibody level, Pulm... OMIM:178500
Relapsing Fever
Epistaxis, Hypotension, Abnormal bleeding, Leukopenia, Leukocytosis, Thrombocytopenia, Neutrophil... ORPHA:91547
Thiamine-Responsive Megaloblastic Anemia Syndrome
Congestive heart failure, Paroxysmal atrial tachycardia, Megaloblastic anemia, Thrombocytopenia, ... ORPHA:49827
Gaucher Disease, Perinatal Lethal
Respiratory distress, Ascites, Hepatosplenomegaly, Apnea, Petechiae, Splenomegaly, Nonimmune hydr... OMIM:608013
Rapidly Involuting Congenital Hemangioma
Telangiectasia of the skin, Thrombocytopenia, Congestive heart failure ORPHA:141184
Abeta Amyloidosis, Iowa Type
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage ORPHA:324708
Beta-Thalassemia
Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal hemoglobin, Thrombocytopen... ORPHA:848
Lymphoproliferative Syndrome 2
Recurrent pneumonia, Ascites, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Hepatomegaly, De... OMIM:615122
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Pseudo-Torch Syndrome 2
Ascites, Pleural effusion, Bradycardia, Petechiae, Thrombocytopenia, Cerebral hemorrhage, Hepatom... OMIM:617397
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Arterial stenosis, Ischemic stroke, Cerebral ischemia, Stroke, Cerebra... ORPHA:136
Fanconi Anemia, Complementation Group T
Anemia, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia OMIM:616435
Moyamoya Disease 6 With Or Without Achalasia
Ischemic stroke, Hypertension, Raynaud phenomenon, Thrombocytopenia OMIM:615750
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Pediatric Systemic Lupus Erythematosus
Discoid lupus rash, Ascites, Malar rash, Pleural effusion, Skin rash, Raynaud phenomenon, Thrombo... ORPHA:93552
Thrombocytopenia 2
Bruising susceptibility, Abnormal platelet volume, Leukocytosis, Abnormal platelet shape, Thrombo... OMIM:188000
Alpha-Thalassemia
Extramedullary hematopoiesis, Congestive heart failure, Microcytic anemia, Hemoglobin Barts, Hepa... ORPHA:846
Rhabdoid Tumor
Anemia, Hypertension, Internal hemorrhage, Thrombocytopenia ORPHA:69077
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Abnormal bleeding, Thrombocytopenia OMIM:314000
Familial Multiple Nevi Flammei
Arteriovenous malformation, Pulmonary embolism, Venous insufficiency, Arrhythmia, Intracranial he... ORPHA:624
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Lujo Hemorrhagic Fever
Facial edema, Generalized edema, Hypotension, Subconjunctival hemorrhage, Atelectasis, Respirator... ORPHA:319213
Acute Promyelocytic Leukemia
Gingival bleeding, Epistaxis, Diffuse alveolar hemorrhage, Abnormal bleeding, Bruising susceptibi... ORPHA:520
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Abnormal p... ORPHA:2357
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Babesiosis
Congestive heart failure, Leukopenia, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Myocardia... ORPHA:108
Folate Malabsorption, Hereditary
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:229050
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Anasarca, Cardiomyopathy, Congestive heart failure, Respiratory distress, Ascites, H... OMIM:261740
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Facial edema, Pulmonary embolism, Edema, Anasarca, Ascites, Pleural effusion, Respiratory tract i... ORPHA:567546
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Congenital Disorder Of Glycosylation, Type Ih
Ascites, Oligohydramnios, Death in infancy, Neonatal death, Thrombocytopenia, Hepatomegaly, Paten... OMIM:608104
Neuraminidase Deficiency
Facial edema, Cardiomyopathy, Cherry red spot of the macula, Ascites, Bone-marrow foam cells, Spl... OMIM:256550
Free Sialic Acid Storage Disease
Ascites, Splenomegaly, Hepatomegaly, Recurrent respiratory infections, Hydrops fetalis ORPHA:834
Mgat2-Cdg
Decreased circulating IgG level, Abnormal bleeding, Respiratory distress, Decreased circulating a... ORPHA:79329
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hypersplenism, Splenomegaly, Thrombocytopenia OMIM:610539
Hemochromatosis, Type 1
Cardiomyopathy, Congestive heart failure, Ascites, Pleural effusion, Splenomegaly, Telangiectasia... OMIM:235200
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia OMIM:608898
Lymphatic Malformation 6
Facial edema, Generalized edema, Chylothorax, Lymphedema, Ascites, Intestinal lymphangiectasia, P... OMIM:616843
Telangiectasia, Hereditary Hemorrhagic, Type 4
Arteriovenous fistulas of celiac and mesenteric vessels, Right-to-left shunt, Tongue telangiectas... OMIM:610655
Neonatal Lupus Erythematosus
Atrioventricular block, Dilated cardiomyopathy, Aplastic anemia, Abnormal bleeding, Pancytopenia,... ORPHA:398124
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Hermansky-Pudlak Syndrome 9
Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Sneddon Syndrome
Arterial stenosis, Hypertension, Intracranial hemorrhage ORPHA:820
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Granulomatous Disease, Chronic, X-Linked
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Atelectasis, Ascit... OMIM:306400
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Acquired Purpura Fulminans
Macular purpura, Shock, Skin rash, Internal hemorrhage, Prolonged prothrombin time, Thrombocytope... ORPHA:49566
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Tufted Angioma
Anemia, Purpura, Petechiae, Thrombocytopenia ORPHA:1063
Immunodeficiency 46
Anemia, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Cholestasis, Progressive Familial Intrahepatic, 5
Ascites, Pleural effusion, Death in infancy, Nonimmune hydrops fetalis, Prolonged prothrombin time OMIM:617049
Brain Small Vessel Disease 2
Intracranial hemorrhage OMIM:614483
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:620481
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... OMIM:618963
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Abnormal bleeding, Palpitations, Leukocytosis, Anemia of inadeq... ORPHA:86839
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Combined Oxidative Phosphorylation Deficiency 5
Ascites, Death in infancy, Hypertrophic cardiomyopathy, Edema OMIM:611719
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Splenomegaly, Thrombocytopenia OMIM:615010
Primary Intestinal Lymphangiectasia
Generalized edema, Decreased circulating IgG level, Intestinal lymphangiectasia, Ascites, Decreas... ORPHA:90362
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Impaired platelet aggregation, Elliptocytosis, Macrocytic anemi... OMIM:300835
Avian Influenza
Pneumonia, Congestive heart failure, Respiratory distress, Ground-glass opacification, Pleural ef... ORPHA:454836
Nephrotic Syndrome, Type 7
Hemolytic anemia, Thrombocytopenia OMIM:615008
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Abnormal bleeding, Ascites, Hypersplenism, Portal hypertension, Sple... ORPHA:64743
Autoimmune Lymphoproliferative Syndrome, Type Iia
Vasculitis, Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Splenomegaly, Petechiae, El... OMIM:603909
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia OMIM:616738
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia OMIM:188025
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Enlarged platelet dense granules, Hepatosplenomegaly, Impaired ADP-induced p... OMIM:608233
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617907
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Webbed neck, Pulmonary hemorrhage, Decreased platelet glycoprotein Ib, Thro... OMIM:603585
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Abnormal bleeding, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret... ORPHA:35858
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Angioedema, Hepatosplenomegaly, Pulmonary infiltrates, Eryt... ORPHA:3260
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic root aneurysm, Abdominal aortic aneurysm, Carotid artery dilatation, Patent ductus arterio... ORPHA:91387
Telangiectasia, Hereditary Hemorrhagic, Type 1
Pulmonary hemorrhage, Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, High-output c... OMIM:187300
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Oligohydramnios, Hypertension, Pulmonary hypoplasia OMIM:616733
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Arrhythm... ORPHA:154
Dural Sinus Malformation
Subdural hemorrhage, Abnormal facial vein morphology, Stroke, Subarachnoid hemorrhage, Cerebellar... ORPHA:97339
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:611783
Surfactant Metabolism Dysfunction, Pulmonary, 1
Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Int... OMIM:265120
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level, Neonatal death OMIM:300076
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat... OMIM:613673
Propionic Acidemia
Eczematoid dermatitis, Cardiomyopathy, Apnea, Tachypnea, Cerebellar hemorrhage, Thrombocytopenia,... OMIM:606054
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
Bone Marrow Failure Syndrome 4
Anemia, Leukopenia, Thrombocytopenia OMIM:618116
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, Anemia OMIM:613101
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Neutropenia, Megaloblastic anemia, Thrombocytopenia OMIM:598500
Primary Ciliary Dyskinesia
Atelectasis, Polysplenia, Abnormal inferior vena cava morphology, Pulmonary situs ambiguus, Respi... ORPHA:244
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Splenomegaly, Hepatomegaly, Polyhydramnios, Hydrops fetalis OMIM:619462
Chronic Pneumonitis Of Infancy
Intercostal retractions, Respiratory distress, Ground-glass opacification, Tachypnea, Diffuse ret... ORPHA:91359
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Esophageal ulceration, Duodenal ulcer, Gastric ulcer, Impaired platelet aggregation OMIM:618372
Isovaleric Acidemia
Bone marrow hypocellularity, Cerebellar hemorrhage, Thrombocytopenia, Dehydration OMIM:243500
Transaldolase Deficiency
Anemia, Hepatosplenomegaly, Telangiectasia, Thrombocytopenia ORPHA:101028
Acute Erythroid Leukemia
Erythroid hypoplasia, Pancytopenia, Anemia, Leukopenia ORPHA:318
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Intestinal lymphangiectasia, Stillbirth, Edema, Pedal edema OMIM:152800
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Diffuse alveolar hemorrhage, Pancytopenia, Splenomegaly, Throm... OMIM:616050
Gaucher Disease, Type I
Aortic valve stenosis, Epistaxis, Pancytopenia, Hypersplenism, Splenomegaly, Mitral regurgitation... OMIM:230800
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent respiratory infections, Bronchiolitis OMIM:615993
Mulibrey Nanism
Congestive heart failure, Ascites, Hepatomegaly, Recurrent lower respiratory tract infections, Hy... OMIM:253250
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Increased mean corpuscular volume, Second degree atrioventricular block, Extramedullary hematopoi... OMIM:617021
Sneddon Syndrome
Ischemic stroke, Stroke, Cerebral hemorrhage, Decreased circulating total IgM, Hypertension OMIM:182410
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Absence of lymph node germinal center, Recurrent respiratory infections, Panhypogammaglobulinemia... ORPHA:79124
Splenoportal Vascular Anomalies
Ascites, Splenomegaly OMIM:271500
Lymphatic Malformation 12
Fetal ascites, Lymphedema, Nonimmune hydrops fetalis, Neonatal death, Death in adolescence, Polyh... OMIM:620014
Primary Hepatic Neuroendocrine Carcinoma
Right ventricular failure, Ascites, Palpitations, Facial telangiectasia, Chronic noninfectious ly... ORPHA:100085
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Chylothorax, Subdural hemorrhage, Respiratory distress, Death in childhood, Death in infancy, Cer... OMIM:620278
Chylous Ascites
Ascites, Lymphedema ORPHA:1160
Familial Isolated Restrictive Cardiomyopathy
Atrial fibrillation, Abnormal left ventricular function, Hypertrophic cardiomyopathy, Tricuspid r... ORPHA:75249
Vitamin B12-Unresponsive Methylmalonic Acidemia
Cardiomyopathy, Leukopenia, Macrocytic anemia, Thrombocytopenia, Anemia ORPHA:27
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cerebral vasculitis, Cutaneous abs... OMIM:243700
Orthostatic Hypotension 2
Anemia, Orthostatic hypotension OMIM:618182
Lethal Congenital Contracture Syndrome 5
Polyhydramnios, Retinal hemorrhage, Subdural hemorrhage, Death in infancy OMIM:615368
Hermansky-Pudlak Syndrome 11
Gingival bleeding, Epistaxis, Bruising susceptibility, Reduced platelet dense granules, Impaired ... OMIM:619172
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Exertional dyspnea, Recurrent respirator... ORPHA:3348
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia ORPHA:859
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiomyopathy, Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Arrhythmia, Throm... OMIM:249270
Wiskott-Aldrich Syndrome
Gingival bleeding, Arrhythmia, Abnormal platelet morphology, Purpura, Vasculitis, Eczematoid derm... ORPHA:906
Leishmaniasis
Abnormal bleeding, Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Thromb... ORPHA:507
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy, Thrombocytopenia ORPHA:67048
Congenital Disorder Of Glycosylation, Type Iir
Ascites, Hepatomegaly, Decreased circulating antibody level OMIM:301045
Systemic Lupus Erythematosus
Leukopenia, Hemolytic anemia, Thrombocytopenia, Pericarditis OMIM:152700
Congenital Sialidosis Type 2
Cherry red spot of the macula, Ascites, Abnormal EKG, Hepatosplenomegaly, Respiratory tract infec... ORPHA:93400
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Respiratory distress, Foam cells, Tachypnea, Acute infectious pneumonia, Ta... ORPHA:264675
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis OMIM:603529
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Hemolytic anemia, Thrombocytopenia OMIM:616744
Desmoplastic Small Round Cell Tumor
Ascites, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Neoplasm of the lung ORPHA:83469
Poems Syndrome
Abnormality of skin physiology, Visceromegaly, Ascites, Pleural effusion, Splenomegaly, Increased... ORPHA:2905
Tafro Syndrome
Anasarca, Ascites, Hepatosplenomegaly, Pleural effusion, Splenomegaly, Lymphadenopathy, Thrombocy... ORPHA:457077
Corticosteroid-Binding Globulin Deficiency
Anemia, Hypotension, Hypertension OMIM:611489
Hepatic Veno-Occlusive Disease
Ascites, Hepatomegaly ORPHA:890
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Pseudomyxoma Peritonei
Ascites, Lymphadenopathy ORPHA:26790
Specific Granule Deficiency 2
Death in childhood, Death in infancy, Absent neutrophil specific granules, Thrombocytopenia, Neut... OMIM:617475
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Mucopolysaccharidosis Type 7
Arteriovenous malformation, Lymphedema, Ascites, Abnormal pleura morphology, Splenomegaly, Recurr... ORPHA:584
Osteopetrosis, Autosomal Recessive 4
Petechiae, Splenomegaly, Reticulocytosis, Thrombocytopenia, Anemia OMIM:611490
Thrombocytopenia 3
Decreased mean platelet volume, Epistaxis, Petechiae, Thrombocytopenia OMIM:273900
Immunodeficiency 22
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased circulat... OMIM:615758
Hermansky-Pudlak Syndrome 6
Epistaxis, Recurrent upper respiratory tract infections, Bruising susceptibility, Impaired arachi... OMIM:614075
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anemia, Thrombocytopenia, Hypertension, Microangiopathic hemolytic anemia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anemia, Thrombocytopenia, Hypertension, Microangiopathic hemolytic anemia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anemia, Thrombocytopenia, Hypertension, Microangiopathic hemolytic anemia OMIM:612926
Primary Angiitis Of The Central Nervous System
Stroke, Transient ischemic attack, Intracranial hemorrhage, Cerebral vasculitis ORPHA:140989
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anemia, Thrombocytopenia, Hypertension, Microangiopathic hemolytic anemia OMIM:612924
Methanol Poisoning
Inflammatory arteriopathy, Permanent atrial fibrillation, Cerebral hemorrhage, Intracranial hemor... ORPHA:31825
Gaucher Disease Type 1
Gingival bleeding, Splenic infarction, Abnormal bleeding, Bruising susceptibility, Ascites, Hepat... ORPHA:77259
Ovarian Hyperstimulation Syndrome
Ascites OMIM:608115
Stormorken Syndrome
Howell-Jolly bodies, Epistaxis, Abnormal bleeding, Bruising susceptibility, Subarachnoid hemorrha... OMIM:185070
Diarrhea 10, Protein-Losing Enteropathy Type
Hematochezia, Recurrent upper respiratory tract infections, Anasarca, Ascites, Pleural effusion, ... OMIM:618183
Noonan Syndrome 12
Lymphopenia, Supravalvular aortic stenosis, Thrombocytopenia OMIM:618624
Griscelli Syndrome
Bone marrow hypocellularity, Ascites, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomega... ORPHA:381
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Hepatosple... OMIM:619644
Leukocyte Adhesion Deficiency, Type Iii
Epistaxis, Abnormality of thrombocytes, Abnormal bleeding, Extramedullary hematopoiesis, Hepatosp... OMIM:612840
Zygomycosis
Pulmonary infiltrates, Pustule, Acute infectious pneumonia, Periorbital edema, Air crescent sign,... ORPHA:73263
Ovarian Hyperstimulation Syndrome
Generalized edema, Ascites, Peripheral edema, Pleural effusion, Pulmonary edema, Capillary leak, ... ORPHA:64739
Mitochondrial Complex I Deficiency, Nuclear Type 35
Cardiomyopathy, Neonatal death, Nonimmune hydrops fetalis, Pulmonary arterial hypertension, Pulmo... OMIM:619003
Catastrophic Antiphospholipid Syndrome
Pulmonary embolism, Arterial occlusion, Microangiopathic hemolytic anemia, Transient ischemic att... ORPHA:464343
Carney Triad
Gastrointestinal hemorrhage, Mediastinal lymphadenopathy, Ascites, Pulmonary infiltrates, Arrhyth... ORPHA:139411
Lethal Recessive Chondrodysplasia
Respiratory distress, Polyhydramnios, Edema ORPHA:1423
Congenital Enterovirus Infection
Fetal ascites, Hypotension, Abnormal bleeding, Cardiomyopathy, Respiratory distress, Pleural effu... ORPHA:292
Sea-Blue Histiocytosis
Abnormal bleeding, Sea-blue histiocytosis, Petechiae, Splenomegaly, Thrombocytopenia ORPHA:158029
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Amed Syndrome, Digenic
Anemia, Leukopenia, Acute myeloid leukemia, Thrombocytopenia OMIM:619151
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia OMIM:206100
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Isolated Agammaglobulinemia
Abnormal lymphocyte morphology, Thrombocytopenia, Anemia, Abnormality of neutrophils, Recurrent c... ORPHA:229717
Glycogen Storage Disease Ii
Sinus tachycardia, Dilatation of the cerebral artery, Pleural effusion, Splenomegaly, Shortened P... OMIM:232300
Cocaine Intoxication
Diffuse alveolar hemorrhage, Hypotension, Aortic dissection, Respiratory distress, Prolonged QRS ... ORPHA:90068
Aicardi-Goutieres Syndrome 4
Hepatosplenomegaly, Pancytopenia, Death in childhood, Splenomegaly, Thrombocytopenia OMIM:610333
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Hypertrophic cardiomyopathy, Low-output congestive heart failure ORPHA:91130
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Pneumonia, Polyhydramnios ORPHA:596
Wyburn-Mason Syndrome
Gingival bleeding, Epistaxis, Arteriovenous malformation, Abnormal cerebral vascular morphology, ... ORPHA:53719
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Lymphedema, Ascites, Pancreatic lymphangiectasis, Splenomegaly, Death in infancy, Thyroid lymphan... OMIM:235255
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
Congenital Dyserythropoietic Anemia Type Iii
Gingival bleeding, Melena, Increased mean corpuscular volume, Abnormal erythrocyte morphology, Or... ORPHA:98870
Immune Dysregulation, Autoimmunity, And Autoinflammation
Gingival bleeding, Epistaxis, Petechiae, Ecchymosis, Anemia OMIM:620514
Sitosterolemia 1
Giant platelets, Abnormal bleeding, Splenomegaly, Coronary artery atherosclerosis, Carotid artery... OMIM:210250
Interstitial Pneumonitis, Desquamative, Familial
Recurrent upper respiratory tract infections, Respiratory distress, Type II pneumocyte hypertroph... OMIM:263000
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cardiomyopathy, Respiratory distress, Cerebellar hemorrhage, Thrombocytopenia, Hepatomegaly, Dehy... OMIM:251000
Malignant Peritoneal Mesothelioma
Dyspnea, Ascites, Pedal edema ORPHA:168811
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anemia, Thrombocytopenia, Hypertension, Microangiopathic hemolytic anemia OMIM:612925
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... OMIM:300946
Osteopetrosis, Autosomal Recessive 8
Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Telangiectasia, Hereditary Hemorrhagic, Type 2
Nasal mucosa telangiectasia, Polycythemia, Facial telangiectasia, Cerebral arteriovenous malforma... OMIM:600376
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Peripheral pulmonary artery stenosis, Recurrent pneumonia, Atelectasis, Emphyse... OMIM:613177
Hermansky-Pudlak Syndrome 8
Gingival bleeding, Epistaxis, Bruising susceptibility, Excessive bleeding from superficial cuts, ... OMIM:614077
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Hematochezia, Mitral regurgitation, Telangiectasia, Cerebral arteriovenous malformatio... OMIM:175050
Lymphoproliferative Syndrome, X-Linked, 1
Vasculitis, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B ce... OMIM:308240
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Moyamoya phenomenon, Ischemic stroke, Coronary artery atherosclerosis, Ce... ORPHA:280679
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Retinal hemorrhage, Medial c... OMIM:177850
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Prolonged prothrombin time, Ce... OMIM:277450
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia, Abnormality of thrombocytes, Purpura ORPHA:3204
Immunodeficiency 32B
Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocytopenia, Neutrophil... OMIM:226990
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Morbilliform rash, Retinal hemorrhage, Erythema nodosum, Hepatomegaly, Tachyca... ORPHA:99827
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Lower eyelid edema, Gastrointestinal hemorrhage, Abnormal cerebral vascula... ORPHA:363705
Periventricular Nodular Heterotopia 1
Stroke, Patent ductus arteriosus, Cerebral hemorrhage OMIM:300049
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... OMIM:254210
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia OMIM:618849
Mitochondrial Trifunctional Protein Deficiency 2
Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Death in infa... OMIM:620300
Eisenmenger Syndrome
Elevated jugular venous pressure, Hepatomegaly, Patent ductus arteriosus, Pedal edema, Right vent... ORPHA:97214
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ascites, Hypertrophic cardiomyopathy, Pleural effusion, Polyhydramnios, Hydrops fetalis, Pulmonar... OMIM:616897
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Automatic atrial tachycardia, Systolic heart murmur, Tricuspid re... ORPHA:99105
Scimitar Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Left superior vena cava drain... ORPHA:185
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Refractory anemia, Thrombocytopenia OMIM:231095
Hemorrhagic Fever-Renal Syndrome
Pneumonia, Epistaxis, Hypotension, Subconjunctival hemorrhage, Respiratory distress, Shock, Palpi... ORPHA:340
Sengers Syndrome
Hypertrophic cardiomyopathy, Pulmonary arterial hypertension, Thrombocytopenia, Cardiac arrest, S... OMIM:212350
Hellp Syndrome
Generalized edema, Hypotension, Pleural effusion, Pulmonary edema, Internal hemorrhage, Prolonged... ORPHA:244242
Aregenerative Anemia
Abnormal bleeding, Bruising susceptibility, Pancytopenia, Decreased proportion of CD4-positive he... ORPHA:101096
Anemia, Sideroblastic, 1
Sideroblastic anemia, Hypochromic microcytic anemia, Anemia of inadequate production, Macrocytic ... OMIM:300751
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Ascites, Pleuritis, Mitral regurgitation, Pericarditis ORPHA:2848
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Palpitations, Abnormal cardiovascular system physiology, Hepatomegaly, P... ORPHA:422
Q Fever
Pneumonia, Vasculitis, Abnormal vascular morphology, Respiratory distress, Hepatosplenomegaly, Pl... ORPHA:781
Eosinophilic Gastroenteritis
Ascites, Hematochezia, Atopic dermatitis, Edema ORPHA:2070
Fetal Cytomegalovirus Syndrome
Retinal hemorrhage, Petechiae, Splenomegaly, Thrombocytopenia, Anemia ORPHA:294
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hypotension, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chro... ORPHA:98849
Hemochromatosis, Type 2B
Anemia, Splenomegaly, Cardiomyopathy, Congestive heart failure OMIM:613313
Hemochromatosis, Type 3
Cardiomyopathy, Lymphopenia, Neutropenia, Anemia, Purpura OMIM:604250
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Cardiomyopathy ORPHA:26792
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... OMIM:605809
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress ORPHA:238329
Perching Syndrome
Respiratory distress OMIM:617055
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Eczematoid dermatitis, Atelectasis, Increased circulating IgE level, Skin rash, Vascular dilatati... ORPHA:2314
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Abnormal mast cell morphology ORPHA:398189
Drug-Induced Lupus Erythematosus
Petechiae, Thrombocytopenia, Anemia, Prolonged QTc interval, Pericarditis ORPHA:231111
Mitochondrial Complex I Deficiency, Nuclear Type 20
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Death in childhood... OMIM:611126
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea ORPHA:1832
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomega... ORPHA:158057
Thrombocytopenia 6
Abnormal bleeding, Thrombocytopenia, Spontaneous, recurrent epistaxis OMIM:616937
Wolman Disease
Ascites, Hepatomegaly, Bone-marrow foam cells, Splenomegaly ORPHA:75233
Short-Rib Thoracic Dysplasia 12
Atelectasis, Ascites, Splenomegaly, Neonatal death, Hepatomegaly, Polyhydramnios, Patent ductus a... OMIM:269860
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Polyhydramnios, Central apnea, Subdural hemorrhage OMIM:618291
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Cerebral ischemia, Stroke, Subarachnoid hemorrhage, Recurrent cerebra... OMIM:605714
Idiopathic Pulmonary Hemosiderosis
Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Ground-glass opacification, Hep... ORPHA:99931
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Ascites, Portal hypertension, Splenomegaly, Hepatomegaly ORPHA:131
Glycogen Storage Disease Due To Acid Maltase Deficiency
Vasculitis, Atelectasis, Respiratory distress, Hypertrophic cardiomyopathy, Dilatation of the cer... ORPHA:365
Interstitial Lung Disease 1
Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Gro... OMIM:619611
Thrombocytopenia 1
Decreased mean platelet volume, Epistaxis, Bruising susceptibility, Petechiae, Congenital thrombo... OMIM:313900
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Chitayat Syndrome
Respiratory distress, Abnormal pulmonary interstitial morphology, Recurrent respiratory infection... OMIM:617180
Acyl-Coa Dehydrogenase 9 Deficiency