Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
Von Willebrand factor
Synonyms:
6820430P06Rik,  B130011O06Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Vwf 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 Vwf by orthology or direct annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time, Abnormal bleeding OMIM:314560
Athrombia, Essential
Abnormal bleeding, Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggrega... OMIM:209050
Tatsumi Factor Deficiency
Prolonged bleeding time, Abnormal bleeding OMIM:272650
Thrombocytopenia 7
Impaired ADP-induced platelet aggregation, Impaired arachidonic acid-induced platelet aggregation... OMIM:619130
Bleeding Disorder, Platelet-Type, 24
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Imp... OMIM:619271
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia, Prolonged bleeding time OMIM:177820
Platelet Aggregation, Spontaneous
Spontaneous platelet aggregation, Abnormal platelet function OMIM:173400
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia, Abnormal bleeding, Prolonged bleeding time OMIM:608404
Glanzmann Thrombasthenia 2
Epistaxis, Bruising susceptibility, Impaired ADP-induced platelet aggregation, Impaired epinephri... OMIM:619267
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Splenomegaly, Anemia, Abnormal bleeding, Abnormal hemoglobin, Thrombo... ORPHA:231393
Bleeding Disorder, Platelet-Type, 16
Petechiae, Impaired platelet aggregation, Macrothrombocytopenia, Platelet anisocytosis, Giant pla... OMIM:187800
Bleeding Disorder, Platelet-Type, 18
Epistaxis, Prolonged bleeding time, Impaired platelet aggregation OMIM:615888
Bleeding Disorder, Platelet-Type, 22
Subcutaneous hemorrhage, Excessive bleeding from superficial cuts, Impaired platelet aggregation OMIM:618462
Macrothrombocytopenia and progressive sensorineural deafness
Bruising susceptibility, Macrothrombocytopenia, Giant platelets, Abnormal bleeding, Prolonged ble... OMIM:600208
Platelet Signal Processing Defect
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... OMIM:173590
Bernard-Soulier Syndrome
Epistaxis, Gastrointestinal hemorrhage, Macrothrombocytopenia, Purpura, Menorrhagia, Giant platel... OMIM:231200
Glanzmann Thrombasthenia 1
Bruising susceptibility, Gastrointestinal hemorrhage, Impaired platelet aggregation, Purpura, Men... OMIM:273800
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Bleeding Disorder, Platelet-Type, 11
Bruising susceptibility, Ecchymosis, Menorrhagia, Prolonged bleeding time, Epistaxis OMIM:614201
Sebastian syndrome
Neutrophil inclusion bodies, Leukocyte inclusion bodies, Giant platelets, Prolonged bleeding time... OMIM:605249
Bleeding Disorder, Platelet-Type, 14
Bruising susceptibility, Prolonged bleeding time, Ecchymosis, Epistaxis OMIM:614158
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... OMIM:187950
+173470 integrin, beta-3
Bruising susceptibility, Gastrointestinal hemorrhage, Impaired platelet aggregation, Purpura, Men... OMIM:173470
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Bruising susceptibility, Neutrophil inclusion bodies, Leukocyte inclusion bodies, Menorrhagia, Gi... OMIM:155100
Glanzmann Thrombasthenia
Bruising susceptibility, Spontaneous hematomas, Ecchymosis, Gastrointestinal hemorrhage, Purpura,... ORPHA:849
Platelet Disorder, Undefined
Abnormal bleeding, Thrombocytopenia, Impaired platelet aggregation, Prolonged bleeding time OMIM:173420
Bleeding Disorder, Platelet-Type, 8
Persistent bleeding after trauma, Bruising susceptibility, Impaired ADP-induced platelet aggregat... OMIM:609821
Immunodeficiency, Common Variable, 5
Antinuclear antibody positivity, Recurrent bacterial infections, Recurrent respiratory infections OMIM:613495
Slc35A1-Cdg
Pneumonia, Subcutaneous hemorrhage, Giant platelets, Pulmonary hemorrhage, Abnormal platelet gran... ORPHA:238459
Giant platelet syndrome with thrombocytopenia
Bruising susceptibility, Gastrointestinal hemorrhage, Prolonged bleeding after dental extraction,... OMIM:137560
Von Willebrand Disease, Type 3
Persistent bleeding after trauma, Bruising susceptibility, Epistaxis, Impaired platelet aggregati... OMIM:277480
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume, Epistaxis OMIM:615193
Fechtner syndrome
Bruising susceptibility, Leukocyte inclusion bodies, Menorrhagia, Giant platelets, Nephritis, Pro... OMIM:153640
Factor V Deficiency
Bruising susceptibility, Menorrhagia, Abnormal bleeding, Prolonged prothrombin time, Prolonged bl... OMIM:227400
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Menorrhagia, Eczema, Psoriasiform dermatitis, Thrombocytopenia OMIM:617443
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia, Abnormal bleeding OMIM:188030
Prothrombin Deficiency, Congenital
Bruising susceptibility, Ecchymosis, Gastrointestinal hemorrhage, Menorrhagia, Gingival bleeding,... OMIM:613679
Myh9-Related Disease
Bruising susceptibility, Menorrhagia, Giant platelets, Spontaneous, recurrent epistaxis, Nephriti... ORPHA:182050
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Impaired platelet aggr... OMIM:300835
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation, Bruising susceptibility, Ecchymosis... OMIM:614009
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Bruising susceptibility, Impaired platelet aggregation, Acute myeloid leukemia, Abnormal dense gr... OMIM:601399
Von Willebrand Disease
Abnormal platelet function, Abnormality of thrombocytes ORPHA:903
Gray Platelet Syndrome
Bruising susceptibility, Abnormal number of alpha granules, Menorrhagia, Impaired collagen-induce... OMIM:139090
Thrombocytopenia 2
Bruising susceptibility, Leukocytosis, Thrombocytopenia OMIM:188000
Immunodeficiency 34
Severe recurrent varicella, Recurrent mycobacterial infections OMIM:300645
Quebec Platelet Disorder
Bruising susceptibility, Impaired epinephrine-induced platelet aggregation, Menorrhagia, Joint he... OMIM:601709
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Fundic gland polyposis, Abdominal pain, Gastric adenocarcinoma, Melena OMIM:619182
Von Willebrand Disease, Type 1
Gastrointestinal angiodysplasia, Persistent bleeding after trauma, Bruising susceptibility, Epist... OMIM:193400
Bleeding Disorder, Platelet-Type, 17
Bruising susceptibility, Petechiae, Ecchymosis, Gastrointestinal hemorrhage, Absence of alpha gra... OMIM:187900
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent meningococcal disease, Disseminated cryptosporidium infection, Recurr... OMIM:614372
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Bleeding Disorder, Platelet-Type, 12
Bruising susceptibility, Impaired platelet aggregation, Menorrhagia, Intestinal bleeding, Joint h... OMIM:605735
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Pyloric stenosis, Thrombocytopenia, Prolonged bleeding time OMIM:188025
Fetal And Neonatal Alloimmune Thrombocytopenia
Petechiae, Ecchymosis, Gastrointestinal hemorrhage, Purpura, Subarachnoid hemorrhage, Neonatal al... ORPHA:853
Bleeding Disorder, Platelet-Type, 9
Bruising susceptibility, Thrombocytopenia OMIM:614200
Thrombocytopenia With Beta-Thalassemia, X-Linked
Bruising susceptibility, Petechiae, Splenomegaly, Hemolytic anemia, Prolonged bleeding time, Reti... OMIM:314050
Thrombocytopenia, Cyclic
Neutropenia, Cyclic neutropenia, Thrombocytopenia, Abnormal bleeding OMIM:188020
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent bacterial infections, Recurrent viral infections OMIM:308220
Hemophilia B
Delayed onset bleeding, Prolonged bleeding after dental extraction, Spontaneous, recurrent epista... ORPHA:98879
Acquired Von Willebrand Syndrome
Gastrointestinal angiodysplasia, Persistent bleeding after trauma, Bruising susceptibility, Aorti... ORPHA:99147
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia OMIM:613112
Storage Pool Platelet Disease
Abnormal bleeding, Prolonged bleeding time, Decreased mean platelet volume, Acute leukemia OMIM:185050
Hermansky-Pudlak Syndrome 3
Bruising susceptibility, Impaired platelet aggregation, Gingival bleeding, Spontaneous, recurrent... OMIM:614072
Blue Rubber Bleb Nevus
Gastrointestinal infarctions, Intestinal bleeding, Volvulus, Prolonged bleeding time ORPHA:1059
Bernard-Soulier Syndrome
Bruising susceptibility, Petechiae, Gastrointestinal hemorrhage, Macrothrombocytopenia, Menorrhag... ORPHA:274
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Immunodeficiency 81
Reduced antigen-specific T cell proliferation, Petechiae, Impaired neutrophil chemotaxis, Reduced... OMIM:619374
Sitosterolemia 1
Impaired platelet aggregation, Giant platelets, Splenomegaly, Chronic hemolytic anemia, Stomatocy... OMIM:210250
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent staphylococcal infections, Recurrent bacterial infections, Recurrent streptococcus pneu... ORPHA:70592
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormal platelet function, Hypoplastic anemia, Spl... ORPHA:2585
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Menorrhagia, Anemia, Abnormal bleeding, Spontaneous hematomas, Epistaxis OMIM:616176
Complement Component 8 Deficiency, Type I
Systemic lupus erythematosus, Meningitis OMIM:613790
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Epistaxis, Bruising susceptibility, Petechiae, Ecchymosis, Menorrhagia, Gingival bleeding, Prolon... OMIM:153670
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Hermansky-Pudlak Syndrome 5
Bruising susceptibility, Menorrhagia, Thrombocytopenia, Prolonged bleeding time, Abnormal bleedin... OMIM:614074
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Congenital Factor V Deficiency
Persistent bleeding after trauma, Bruising susceptibility, Hematochezia, Spontaneous hematomas, G... ORPHA:326
Neuroendocrine Tumor Of The Rectum
Hematochezia, Bloody diarrhea, Constipation, Protracted diarrhea, Hypotension, Anorexia, Abdomina... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hematochezia, Bloody diarrhea, Constipation, Protracted diarrhea, Hypotension, Anorexia, Abdomina... ORPHA:100082
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Congenital Factor Vii Deficiency
Epistaxis, Bruising susceptibility, Gastrointestinal hemorrhage, Menorrhagia, Gingival bleeding, ... ORPHA:327
Hermansky-Pudlak Syndrome 7
Epistaxis, Bruising susceptibility, Abnormal bleeding, Impaired platelet aggregation OMIM:614076
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Recurrent candida infections OMIM:242870
Immunodeficiency 12
Recurrent bacterial infections, Recurrent viral infections OMIM:615468
Neurofibromatosis-Noonan Syndrome
Hypertrophic cardiomyopathy, Prolonged bleeding time, Dysphagia, Pulmonic stenosis ORPHA:638
Neuroendocrine Tumor Of The Colon
Bloody diarrhea, Protracted diarrhea, Hypotension, Anorexia, Abdominal pain, Melena, Right ventri... ORPHA:100080
Familial Hypofibrinogenemia
Gingival bleeding, Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis ORPHA:101041
Familial Dysfibrinogenemia
Gingival bleeding, Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis ORPHA:98881
Gray Platelet Syndrome
Bruising susceptibility, Splenomegaly, Thrombocytopenia, Abnormality of thrombocytes, Abnormal bl... ORPHA:721
Hermansky-Pudlak Syndrome 6
Bruising susceptibility, Impaired ADP-induced platelet aggregation, Ecchymosis, Abnormal platelet... OMIM:614075
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent respiratory infections, Recurrent otitis media, Recurrent bacterial infections OMIM:616022
Immunodeficiency 35
Recurrent respiratory infections, Recurrent fungal infections, Recurrent viral infections, Recurr... OMIM:611521
C1Q Deficiency
Autoimmunity, Recurrent infections, Systemic lupus erythematosus OMIM:613652
Congenital Factor X Deficiency
Abnormal umbilical stump bleeding, Bruising susceptibility, Epistaxis, Gastrointestinal hemorrhag... ORPHA:328
Amegakaryocytic Thrombocytopenia, Congenital
Pancytopenia, Amegakaryocytic thrombocytopenia, Thrombocytopenia OMIM:604498
Ebola Hemorrhagic Fever
Nausea, Gastrointestinal hemorrhage, Thrombocytopenia, Increased circulating antibody level, Abdo... ORPHA:319218
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Systemic lupus erythematosus OMIM:613779
Congenital Factor Ii Deficiency
Abnormal umbilical stump bleeding, Epistaxis, Oral cavity bleeding, Prolonged bleeding following ... ORPHA:325
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Bleeding Disorder, Platelet-Type, 20
Menorrhagia, Bruising susceptibility, Thrombocytopenia, Epistaxis OMIM:616913
Von Willebrand Disease, Type 2
Menorrhagia, Bruising susceptibility, Thrombocytopenia, Epistaxis OMIM:613554
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Recurre... OMIM:613860
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Anemia, Leukopenia, Thrombocytopenia OMIM:167850
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia ORPHA:3319
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Agammaglobulinemia 3, Autosomal Recessive
Recurrent respiratory infections, Recurrent otitis media, Recurrent bacterial infections, Recurre... OMIM:613501
Factor Vii And Factor Viii, Combined Deficiency Of
Intestinal bleeding OMIM:134430
Neuroendocrine Tumor Of Stomach
Bloody diarrhea, Hepatic failure, Intermittent diarrhea, Poor appetite, Cardiogenic shock, Protra... ORPHA:100075
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Eczema, Defective T cell proliferation, Decreased proportio... OMIM:614493
Essential Thrombocythemia
Myocardial infarction, Transient ischemic attack, Abnormality of thrombocytes, Abnormal platelet ... ORPHA:3318
Roch-Leri Mesosomatous Lipomatosis
Purpura, Thrombocytopenia ORPHA:529
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Glomerulonephritis, Thrombocytopenia, Abnormal bleeding OMIM:314000
Plasma Clot Retraction Factor, Deficiency Of
Bruising susceptibility, Gastrointestinal hemorrhage OMIM:262800
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Intestinal perforation, Hematochezia, Morphological abnormality of the gastrointestinal tract, Bl... ORPHA:464321
Thrombocytopenia 1
Bruising susceptibility, Petechiae, Increased circulating IgA level, Intermittent thrombocytopeni... OMIM:313900
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Decreased circulating total IgM, Petechiae, Purpura, Increased ci... OMIM:301000
Immunodeficiency 61
Recurrent otitis media, Recurrent bacterial infections, Frequent Giardia lamblia infestation, Rec... OMIM:300310
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent bacterial infections, Recurrent viral infections, Recurrent fungal infections OMIM:614868
Wiskott-Aldrich Syndrome, Autosomal Dominant
Sinusitis, Decreased circulating total IgM, Pneumonia, Increased circulating IgA level, Absent mi... OMIM:600903
Colonic Varices Without Portal Hypertension
Colonic varices, Intestinal bleeding OMIM:120440
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Neutropenia, Abnormal bleeding, Macrocytic anemia... ORPHA:98826
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Bruising susceptibility, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leuk... ORPHA:231401
Factor X Deficiency
Menorrhagia, Gingival bleeding, Joint hemorrhage, Prolonged prothrombin time, Intracranial hemorr... OMIM:227600
Hermansky-Pudlak Syndrome 11
Bruising susceptibility, Menorrhagia, Gingival bleeding, Impaired collagen-induced platelet aggre... OMIM:619172
Deafness-Lymphedema-Leukemia Syndrome
Bruising susceptibility, Leukocytosis, Bone marrow hypocellularity, Abnormal neutrophil count, My... ORPHA:3226
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia, Abnormal bleeding ORPHA:517
Inflammatory Bowel Disease 11
Hematochezia, Abdominal pain, Diarrhea, Inflammation of the large intestine OMIM:191390
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Solitary Rectal Ulcer Syndrome
Hematochezia, Bloody diarrhea, Intermittent diarrhea, Stercoral ulcer, Bloody mucoid diarrhea, Re... ORPHA:209964
Eosinophilia, Familial
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia OMIM:131400
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Immunodeficiency 51
Recurrent cutaneous fungal infections, Recurrent Staphylococcus aureus infections, Recurrent otit... OMIM:613953
Combined Deficiency Of Factor V And Factor Viii
Epistaxis, Bruising susceptibility, Gastrointestinal hemorrhage, Menorrhagia, Prolonged bleeding ... ORPHA:35909
Immunoglobulin A Deficiency 1
Autoimmunity, Recurrent infections, Recurrent respiratory infections, Recurrent infection of the ... OMIM:137100
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Neutropenia, Anemia, Increased circulating antibody level, Thrombocytop... OMIM:615285
Thrombocytopenia 3
Petechiae, Thrombocytopenia, Decreased mean platelet volume, Epistaxis OMIM:273900
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Thrombocytopenia OMIM:133180
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Vasculitis in the skin, Disseminated nontuberculous mycobacterial infection, Recurrent mycobacter... ORPHA:319552
Thrombocytopenia 5
Bruising susceptibility, Petechiae, Neutropenia, Anemia, Thrombocytopenia, Epistaxis OMIM:616216
Pelger-Huet Anomaly
Recurrent otitis media, Giant platelets, Eczema, Abnormality of neutrophils, Neutropenia, Hyposeg... OMIM:169400
Hermansky-Pudlak Syndrome 1
Hematochezia, Bruising susceptibility, Ecchymosis, Colitis, Gingival bleeding, Inflammation of th... OMIM:203300
Bone Marrow Failure Syndrome 2
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia OMIM:615715
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections OMIM:608957
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Subcutaneous hemorrhage, Pulmonary hemorrhage, Neutropenia, Decreased plat... OMIM:603585
Anemia, Sideroblastic, 5
Neutropenia, Anemia, Thrombocytopenia, Reduced hematocrit, Hypochromic microcytic anemia OMIM:619523
Bilateral Striopallidodentate Calcinosis
Subcutaneous hemorrhage, Thrombocytopenia ORPHA:1980
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Congestive heart failure, Pulmonary embolism, Prolonged bleeding tim... ORPHA:90308
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia OMIM:269600
Cap Polyposis
Colorectal polyposis, Hematochezia, Constipation, Abdominal pain, Abdominal distention, Diarrhea,... ORPHA:160148
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Immune Thrombocytopenia
Bruising susceptibility, Petechiae, Gastrointestinal hemorrhage, Gingival bleeding, Thrombocytope... ORPHA:3002
Enterocolitis
Hematochezia, Abdominal distention, Enterocolitis, Ulcerative colitis OMIM:226150
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Masp2 Deficiency
Recurrent pneumonia, Systemic lupus erythematosus OMIM:613791
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Congenital Dyserythropoietic Anemia Type Iii
Post-partum hemorrhage, Gingival bleeding, Melena, Oral cavity bleeding ORPHA:98870
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Autoimmune thrombocytopenia, Autoimmune hemolytic a... OMIM:608184
Hermansky-Pudlak Syndrome 8
Bruising susceptibility, Impaired platelet aggregation, Menorrhagia, Gingival bleeding, Abnormal ... OMIM:614077
Duodenal Neuroendocrine Tumor
Nausea, Hepatic failure, Intestinal carcinoid, Intermittent diarrhea, Arrhythmia, Cardiogenic sho... ORPHA:100076
Vascular Hyalinosis
Hematochezia, Malabsorption, Protein-losing enteropathy, Subarachnoid hemorrhage, Diarrhea OMIM:277175
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Persistent bleeding after trauma, Bruising susceptibility, Petechiae, Acanthocytosis, Anemia of i... OMIM:300367
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Hermansky-Pudlak Syndrome 2
Recurrent otitis media, Recurrent pneumonia, Impaired ADP-induced platelet aggregation, Hepatospl... OMIM:608233
Immunodeficiency With Hyper-Igm, Type 2
Recurrent respiratory infections, Recurrent infection of the gastrointestinal tract, Recurrent ba... OMIM:605258
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume, Inflammation of the large intestine OMIM:617718
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Neutropenia, Anemia, Increased... OMIM:619041
Immunoglobulin A Deficiency 2
Autoimmunity, Recurrent infection of the gastrointestinal tract, Recurrent sinopulmonary infections OMIM:609529
Fanconi Anemia, Complementation Group T
Pancytopenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity OMIM:616435
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Autoimmunity, Recurrent viral infections, Recurrent mycobacterial infections, Hashimoto thyroidit... ORPHA:275
Wiskott-Aldrich Syndrome
Microcytic anemia, Blepharitis, Anemia, Hematemesis, Otitis media, Abnormal platelet morphology, ... ORPHA:906
Cernunnos-Xlf Deficiency
T lymphocytopenia, Thrombocytopenia, Decreased circulating antibody level, Anemia, B lymphocytope... ORPHA:169079
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding OMIM:600195
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Bone marrow ... ORPHA:75564
Autoerythrocyte Sensitization Syndrome
Bruising susceptibility, Nausea, Ecchymosis, Gastrointestinal hemorrhage, Oral cavity bleeding, T... ORPHA:324636
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia, HbH hemoglobin OMIM:613978
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Crimean-Congo Hemorrhagic Fever
Subconjunctival hemorrhage, Hepatic failure, Bundle branch block, Subdural hemorrhage, Hypertensi... ORPHA:99827
Nephrotic Syndrome, Type 7
Glomerulonephritis, Hemolytic anemia, Thrombocytopenia OMIM:615008
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Crohn's disease, Colitis, Enterocolitis, Perianal abscess OMIM:613148
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Gastrointestinal hemorrhage, Increased hematocrit, Thrombocyt... OMIM:263300
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Fanconi Anemia, Complementation Group G
Neutropenia, Anemia, Thrombocytopenia, Leukemia OMIM:614082
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Immunodeficiency, Common Variable, 4
Recurrent sinusitis, Recurrent pneumonia, Recurrent bacterial infections OMIM:613494
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Poor suck, Esophageal neoplasm, Gastrointestinal hemorrhage, Gastroesophageal reflux, Nausea and ... ORPHA:2198
Congenital Factor Xi Deficiency
Gastrointestinal hemorrhage, Menorrhagia, Prolonged bleeding after dental extraction, Joint hemor... ORPHA:329
Juvenile Polyposis Of Infancy
Hematochezia, Gastrointestinal hemorrhage, Intussusception, Rectal prolapse, Abdominal pain, Hama... ORPHA:79076
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Iron deficiency anemia, Impaired platelet aggregation OMIM:618372
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Immunodeficiency 46
Intermittent thrombocytopenia, Decreased circulating antibody level, Neutropenia, Anemia, Chronic... OMIM:616740
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia ORPHA:295
Agammaglobulinemia 2, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections, Meningitis, Recurren... OMIM:613500
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Chilblains, Thrombocytopenia OMIM:610329
Transcobalamin Deficiency
Pancytopenia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased circula... ORPHA:859
Hemorrhagic Fever-Renal Syndrome
Subconjunctival hemorrhage, Nausea, Petechiae, Ecchymosis, Shock, Vomiting, Hypotension, Thromboc... ORPHA:340
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolytic anemia, Decreased circulatin... OMIM:616576
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmunity, Recurrent otitis media, Autoimmune hemolytic anemia, Recurrent respiratory infectio... OMIM:618495
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Conjunctivitis, Skin rash OMIM:603552
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Prolonged prothrombin time, Abnormal bleeding, Epistaxis OMIM:610842
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Thrombocytopenia, Hemolytic anemia, Anterior uveitis, Lymphopenia, Skin rash OMIM:616744
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Colitis, Splenomegaly, Decreased circulating antibody level... OMIM:613101
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Angioma, Hereditary Neurocutaneous
Gastrointestinal hemorrhage OMIM:106070
Immunodeficiency 84
Recurrent bacterial infections, Persistent EBV viremia OMIM:619437
Immunodeficiency 7
Autoimmunity, Recurrent infections OMIM:615387
Idiopathic Aplastic Anemia
Pancytopenia, Bone marrow hypocellularity, Retinal hemorrhage, Ecchymosis, Gingival bleeding, Neu... ORPHA:88
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Systemic Lupus Erythematosus
Lupus nephritis, Leukopenia, Malar rash, Nephritis, Hemolytic anemia, Pericarditis, Thrombocytope... OMIM:152700
Bone Marrow Failure Syndrome 4
Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level, Eczema, Anemia, Th... OMIM:618116
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Rift Valley Fever
Increased circulating IgG level, Retinal hemorrhage, Increased circulating IgM level, Gingival bl... ORPHA:319251
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Dentinogenesis Imperfecta
Bruising susceptibility, Prolonged bleeding time ORPHA:49042
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Isolated Agammaglobulinemia
Sinusitis, Abnormal lymphocyte morphology, Pneumonia, Inflammatory abnormality of the eye, Thromb... ORPHA:229717
Malaria
Anemia, Thrombocytopenia ORPHA:673
Wolfram Syndrome 2
Decreased circulating antibody level, Abnormal bleeding, Impaired collagen-induced platelet aggre... OMIM:604928
Acquired Purpura Fulminans
Hepatic failure, Macular purpura, Thrombocytopenia, Intracranial hemorrhage, Prolonged prothrombi... ORPHA:49566
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Complement Factor B Deficiency
Recurrent meningococcal disease, Recurrent bacterial infections, Meningitis OMIM:615561
Ataxia-Pancytopenia Syndrome
Pancytopenia, Hypoplastic anemia, Neutropenia, Anemia, Thrombocytopenia, Acute myelomonocytic leu... OMIM:159550
Hemophilia B
Persistent bleeding after trauma, Joint hemorrhage, Gastrointestinal hemorrhage, Abnormal bleeding OMIM:306900
Hemophilia A With Vascular Abnormality
Persistent bleeding after trauma, Bruising susceptibility, Capillary fragility, Gastrointestinal ... OMIM:306800
Thyrocerebrorenal Syndrome
Nephritis, Thrombocytopenia ORPHA:3327
Mixed Connective Tissue Disease
Myositis, Leukopenia, Gastrointestinal hemorrhage, Arthritis, Purpura, Myocarditis, Splenomegaly,... ORPHA:809
Immunodeficiency, Common Variable, 2
Autoimmunity, Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections, Mening... OMIM:240500
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Complement Component C1R/C1S Deficiency
Autoimmunity, Recurrent bronchitis OMIM:216950
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating antibody level, Thrombocytopenia, Skin rash OMIM:618048
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Abdominal distention, Diarrhea, Protein-losing enteropathy ORPHA:103910
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Mucoepithelial Dysplasia, Hereditary
Corneal neovascularization, Chronic diarrhea, Melena OMIM:158310
Caroli Syndrome
Hepatic failure, Portal hypertension, Abdominal rigidity, Cholangiocarcinoma, Thrombocytopenia, E... ORPHA:480520
Telangiectasia, Hereditary Hemorrhagic, Type 2
Nail bed telangiectasia, Gastrointestinal telangiectasia, Gastrointestinal arteriovenous malforma... OMIM:600376
Congenital Fibrinogen Deficiency
Abnormal umbilical stump bleeding, Bruising susceptibility, Subcutaneous hemorrhage, Gingival ble... ORPHA:335
Niemann-Pick Disease, Type B
Splenomegaly, Anemia, Bone-marrow foam cells, Thrombocytopenia, Sea-blue histiocytosis OMIM:607616
Immunodeficiency 62
Autoimmune thrombocytopenia, Bronchiectasis OMIM:618459
Immunodeficiency, Common Variable, 3
Recurrent sinusitis, Recurrent respiratory infections, Recurrent otitis media, Recurrent bacteria... OMIM:613493
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmunity, Recurrent otitis media, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, S... ORPHA:444463
Zygomycosis
Hematochezia, Nausea, Gastrointestinal hemorrhage, Gastritis, Colitis, Peritonitis, Myocarditis, ... ORPHA:73263
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Decreased circulating IgG level, Reduced natural killer cell activity, Hemophagocyt... OMIM:308240
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
Telangiectasia, Hereditary Hemorrhagic, Type 1
Gastrointestinal hemorrhage, Nail bed telangiectasia, Telangiectasia of the skin, Gastrointestina... OMIM:187300
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Eczematoid dermatitis, Absent circulating B cells, Seborrheic dermatitis, Thr... OMIM:619693
Isolated Polycystic Liver Disease
Feeding difficulties in infancy, Gastrointestinal hemorrhage, Gastroesophageal reflux, Abdominal ... ORPHA:2924
Nk-Cell Enteropathy
Hematochezia, Gastric ulcer, Intestinal polyp, Constipation, Gastroesophageal reflux, Colonic div... ORPHA:263665
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Thrombocytosis, Osteomyelit... ORPHA:232
Sea-Blue Histiocytosis
Petechiae, Blepharitis, Splenomegaly, Abnormal bleeding, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Immunodeficiency By Defective Expression Of Mhc Class Ii
Autoimmunity, Recurrent Staphylococcus aureus infections, Recurrent viral infections, Autoimmune ... ORPHA:572
Fanconi Anemia, Complementation Group V
Neutropenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity OMIM:617243
Eosinophilic Gastroenteritis
Hematochezia, Abnormality of the gastrointestinal tract, Abdominal pain, Dysphagia, Protein-losin... ORPHA:2070
Thyrocerebroretinal Syndrome
Nephritis, Thrombocytopenia OMIM:274240
Hemophilia A
Gastrointestinal hemorrhage, Oral cavity bleeding, Joint hemorrhage, Bleeding with minor or no tr... ORPHA:98878
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Leukocyte Adhesion Deficiency
Recurrent aphthous stomatitis, Vaginitis, Otitis media, Abnormality of neutrophil physiology, Con... ORPHA:2968
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hypersplenism, Thrombocytopenia, Splenomegaly OMIM:610539
Turcot Syndrome With Polyposis
Hematochezia, Nausea, Hepatoblastoma, Colon cancer, Constipation, Desmoid tumors, Abdominal pain,... ORPHA:99818
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Anemia, Hepatitis, Abnormal hemoglobin, Thrombocytopenia ORPHA:848
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Reduced natural killer cell activity, Diffuse alveolar hemorrhage, Splenomegaly, An... OMIM:616050
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Increased circulating ant... ORPHA:507
Selective Igm Deficiency
Autoimmunity, Severe infection, Hashimoto thyroiditis, Rheumatoid arthritis, Recurrent urinary tr... ORPHA:331235
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Petechiae, Increased circulating IgG level, Gastrointestinal hemorrhage, Increased ... OMIM:603909
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Recurre... OMIM:150550
Immunodeficiency 27B
Recurrent mycobacterium avium complex infections, Recurrent mycobacterial infections OMIM:615978
Wolfram Syndrome, Mitochondrial Form
Neutropenia, Megaloblastic anemia, Sideroblastic anemia, Thrombocytopenia OMIM:598500
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521
Osteopetrosis, Autosomal Recessive 8
Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Recurrent viral infections, Recurrent bacterial infe... OMIM:243700
Severe Hemophilia A
Persistent bleeding after trauma, Bruising susceptibility, Epistaxis, Gastrointestinal hemorrhage... ORPHA:169802
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Hematochezia, Adenomatous colonic polyposis, Small intestinal polyposis, Multiple gastric polyps,... ORPHA:329971
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Neutropenia, Anemia, Congenital thrombocytopenia, Thrombocytopenia OMIM:616738
Cyanosis, Transient Neonatal
Reticulocytosis, Anemia, Methemoglobinemia OMIM:613977
Wt Limb-Blood Syndrome
Pancytopenia, Thrombocytopenia, Leukemia, Hypoplastic anemia OMIM:194350
Osteopetrosis, Autosomal Recessive 4
Petechiae, Hepatosplenomegaly, Splenomegaly, Anemia, Reticulocytosis, Thrombocytopenia OMIM:611490
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Malignant Atrophic Papulosis
Gastrointestinal infarctions, Constrictive pericarditis, Gastrointestinal hemorrhage OMIM:602248
Aicardi-Goutieres Syndrome 5
Chilblains, Thrombocytopenia OMIM:612952
Aicardi-Goutieres Syndrome 7
Increased circulating antibody level, Atopic dermatitis, Thrombocytopenia, Splenomegaly OMIM:615846
Imerslund-Gräsbeck Syndrome
Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Moderate Hemophilia A
Gastrointestinal hemorrhage, Subcutaneous hemorrhage, Prolonged bleeding after dental extraction,... ORPHA:169805
Chédiak-Higashi Syndrome
Pancytopenia, Bruising susceptibility, Abnormal platelet function, Hepatosplenomegaly, Vacuolated... ORPHA:167
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Thrombocytopenia OMIM:617021
Macs Syndrome
Bruising susceptibility, Prolonged bleeding time OMIM:613075
Tufted Angioma
Purpura, Anemia, Petechiae, Thrombocytopenia ORPHA:1063
Thymic Aplasia
Autoimmunity, Recurrent Staphylococcus aureus infections, Recurrent infections, Severe infection,... ORPHA:83471
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Isovaleric Acidemia
Pancytopenia, Leukopenia, Bone marrow hypocellularity, Cerebellar hemorrhage, Thrombocytopenia OMIM:243500
Griscelli Syndrome, Type 2
Recurrent bacterial infections OMIM:607624
Primary Myelofibrosis
Pancytopenia, Petechiae, Hepatosplenomegaly, Leukocytosis, Ecchymosis, Thrombocytosis, Purpura, S... ORPHA:824
Tularemia
Pneumonia, Erythema nodosum, Leukocytosis, Inflammatory abnormality of the eye, Cutaneous abscess... ORPHA:3392
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections, Recurrent bronchitis... OMIM:607594
Infantile Liver Failure Syndrome 2
Acute hepatic failure, Prolonged prothrombin time, Cardiomyopathy, Vomiting OMIM:616483
Monosomy 13Q34
Hematochezia, Prolonged prothrombin time, Epistaxis, Pulmonic stenosis ORPHA:96168
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Glomerulonephritis, ... OMIM:304790
Radiation Proctitis
Hematochezia, Rectal fistula, Rectal abscess, Abnormality of gastrointestinal vasculature, Arteri... ORPHA:70475
Lymphoproliferative Syndrome 1
Pancytopenia, Decreased circulating IgG level, Leukopenia, Autoimmune hemolytic anemia, Autoimmun... OMIM:613011
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity OMIM:613987
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Increased mean platelet volume OMIM:616737
Dengue Fever
Bruising susceptibility, Petechiae, Gastrointestinal hemorrhage, Gingival bleeding, Hypotension, ... ORPHA:99828
Hermansky-Pudlak Syndrome 9
Leukopenia, Thrombocytopenia OMIM:614171
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Autoimmunity, Recurrent otitis media, Recurrent upper respiratory tract infections, Recurrent pne... ORPHA:277
Immunodeficiency 33
Recurrent bacterial infections, Disseminated nontuberculous mycobacterial infection OMIM:300636
Bare Lymphocyte Syndrome, Type Ii
Recurrent upper respiratory tract infections, Recurrent viral infections, Chronic lymphocytic men... OMIM:209920
Agammaglobulinemia 6, Autosomal Recessive
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Recurrent bronchitis OMIM:612692
Alpha-Thalassemia
Microcytic anemia, Splenomegaly, Anemia, Hemolytic anemia, Abnormal hemoglobin, Hypersplenism ORPHA:846
Acute Promyelocytic Leukemia
Pancytopenia, Bruising susceptibility, Petechiae, Leukopenia, Leukocytosis, Ecchymosis, Oral cavi... ORPHA:520
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Ghosal Hematodiaphyseal Dysplasia
Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Refractory anemia OMIM:231095
Drug-Induced Lupus Erythematosus
Petechiae, Anemia, Malar rash, Pericarditis, Serositis, Thrombocytopenia ORPHA:231111
Sengers Syndrome
Thrombocytopenia OMIM:212350
Immunodeficiency With Hyper-Igm, Type 5
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections OMIM:608106
Omenn Syndrome
Eosinophilia, Pneumonia, Splenomegaly, Severe B lymphocytopenia, Erythroderma, Anemia, B lymphocy... OMIM:603554
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Bloody diarrhea, Agammaglobulinemia, Colonic atresia, Intestinal malrotation, Throm... OMIM:243150
Agammaglobulinemia 4, Autosomal Recessive
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia OMIM:613502
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Decreased circulating IgG level, Recurrent otitis media, Uveitis, Chronic neutropen... OMIM:614700
Gaucher Disease, Type Ii
Anemia, Recurrent aspiration pneumonia, Thrombocytopenia, Splenomegaly OMIM:230900
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Neutropenia, Recurrent sinusitis, Anemia, Increased mean corpuscular... OMIM:618849
Ménétrier Disease
Nausea, Gastrointestinal hemorrhage, Giant hypertrophic gastritis, Helicobacter pylori infection,... ORPHA:2494
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Megaloblastic anemia, Thrombocytopenia OMIM:613839
Mgat2-Cdg
Decreased circulating IgG level, Impaired platelet aggregation, Decreased circulating antibody le... ORPHA:79329
Vexas Syndrome
Neutrophilic infiltration of the skin, Chondritis of pinna, Thrombocytopenia, Arteritis, Inflamma... OMIM:301054
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia ORPHA:67048
Relapsing Fever
Leukopenia, Leukocytosis, Neutrophilia, Anemia, Abnormal bleeding, Prolonged prothrombin time, Th... ORPHA:91547
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hematochezia, Gastrointestinal carcinoma, Anorexia, Hamartomatous polyposis, Abdominal pain, Mala... OMIM:175500
Combined Immunodeficiency Due To Crac Channel Dysfunction
Autoimmunity, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent bacterial... ORPHA:169090
Dermatosparaxis Ehlers-Danlos Syndrome
Esophagitis, Gastroesophageal reflux, Prolonged bleeding time, Hiatus hernia ORPHA:1901
Neonatal Lupus Erythematosus
Pancytopenia, Maculopapular exanthema, Splenomegaly, Neutropenia, Anemia, Malar rash, Hemolytic a... ORPHA:398124
Combined Oxidative Phosphorylation Deficiency 14
Anemia, Thrombocytopenia OMIM:614946
Thrombocytopenia 6
Abnormal bleeding, Thrombocytopenia, Spontaneous, recurrent epistaxis OMIM:616937
Ganglioneuroma
Colorectal polyposis, Gastrointestinal hemorrhage, Multiple intestinal neurofibromatosis, Hamarto... ORPHA:251992
X-Linked Agammaglobulinemia
Sinusitis, Recurrent pneumonia, Arthritis, Agammaglobulinemia, Thrombocytopenia, Neutropenia, Ost... ORPHA:47
Amed Syndrome, Digenic
Leukopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Anemia, Thrombocytopenia OMIM:619151
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent Haemophilus influenzae infections, Recurrent bronchitis OMIM:300455
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Pancreatitis, Anemia, Macrocytic anemia, Thrombocytopenia ORPHA:27
Immune Deficiency Disease
Recurrent bacterial infections, Recurrent viral infections OMIM:242850
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Neutropenia, Anemia, Thrombocytopenia, Pancreatitis ORPHA:289916
Complement Factor I Deficiency
Recurrent otitis media, Recurrent meningitis, Recurrent Haemophilus influenzae infections, Recurr... OMIM:610984
Stormorken Syndrome
Howell-Jolly bodies, Anemia, Asplenia, Abnormal bleeding, Thrombocytopenia, Epistaxis OMIM:185070
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent viral infections, Recurrent mycobacterial infections, Autoimmune thrombocytopenia, Auto... ORPHA:911
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Persistent bleeding after trauma, Epistaxis, Gastrointestinal hemorrhage, Subcutaneous hemorrhage... ORPHA:465
Specific Granule Deficiency 2
Recurrent otitis media, Recurrent pneumonia, Neutropenia, Anemia, Absent neutrophil specific gran... OMIM:617475
Immunodeficiency With Hyper-Igm, Type 1
Decreased T cell activation, Decreased circulating IgG level, Sclerosing cholangitis, Decreased c... OMIM:308230
Immunodeficiency 36
Autoimmunity, Recurrent bacterial infections, Recurrent respiratory infections OMIM:616005
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Autoimmune thrombocytopenia, Recurrent bacterial infections OMIM:613496
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Hepatosplenomegaly, Mandibular osteomyelitis, Osteomyelitis, Anemia, Thrombocytopen... OMIM:259710
Felty Syndrome
Sinusitis, Recurrent pneumonia, Abnormal lymphocyte morphology, Bone marrow hypocellularity, Sple... ORPHA:47612
Syndromic Diarrhea
Thrombocytosis, Colitis, Splenomegaly, Panhypogammaglobulinemia, Hypoplasia of the thymus, Lympho... ORPHA:84064
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenom... ORPHA:100026
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
Specific Granule Deficiency 1
Recurrent bacterial infections OMIM:245480
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia ORPHA:2123
Noonan Syndrome 12
Atopic dermatitis, Lymphopenia, Thrombocytopenia OMIM:618624
Aregenerative Anemia
Pancytopenia, Bruising susceptibility, Bone marrow hypocellularity, Decreased proportion of CD4-p... ORPHA:101096
Hereditary Mixed Polyposis Syndrome
Colorectal polyposis, Hematochezia, Neoplasm of the gastrointestinal tract, Colon cancer, Intussu... ORPHA:157794
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Autoimmunity, Recurrent otitis media, Recurrent pneumonia, Recurrent upper respiratory tract infe... ORPHA:183675
Multiple Endocrine Neoplasia Type 1
Nausea, Intestinal carcinoid, Constipation, Zollinger-Ellison syndrome, Gastroesophageal reflux, ... ORPHA:652
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Eosinophilia, Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Lym... ORPHA:331206
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Neutropenia, Anemia, Pancreatitis, Thrombocytopenia ORPHA:79312
Congenital Bile Acid Synthesis Defect Type 1
Malabsorption, Abnormal bleeding, Gastrointestinal hemorrhage ORPHA:79301
Refractory Anemia With Excess Blasts
Leukocytosis, Bone marrow hypocellularity, Retinal hemorrhage, Acute myeloid leukemia, Abnormal m... ORPHA:86839
Folate Malabsorption, Hereditary
Neutropenia, Leukopenia, Thrombocytopenia, Folate-responsive megaloblastic anemia OMIM:229050
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Thrombocytopenia OMIM:254900
Immunodeficiency 10
Autoimmune hemolytic anemia, Recurrent bacterial infections, Recurrent infections OMIM:612783
Rhabdoid Tumor
Anemia, Thrombocytopenia, Internal hemorrhage ORPHA:69077
Lathosterolosis
Schistocytosis, Hepatosplenomegaly, Acanthocytosis, Anisopoikilocytosis, Increased mean platelet ... OMIM:607330
Juvenile Polyposis Syndrome
Hematochezia, Colon cancer, Intussusception, Rectal prolapse, Abdominal pain, Duodenal adenocarci... OMIM:174900
Transaldolase Deficiency
Anemia, Hepatosplenomegaly, Thrombocytopenia ORPHA:101028
Primary Familial Polycythemia
Abnormal hemoglobin, Abnormal bleeding, Epistaxis, Polycythemia ORPHA:90042
Letterer-Siwe Disease
Hepatosplenomegaly, Neutropenia, Anemia, Seborrheic dermatitis, Stomatitis, Thrombocytopenia OMIM:246400
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia OMIM:614727
Aicardi-Goutieres Syndrome 4
Pancytopenia, Hepatosplenomegaly, Thrombocytopenia, Splenomegaly OMIM:610333
Portal Hypertension, Noncirrhotic, 2
Petechiae, Ecchymosis, Splenomegaly, Thrombocytopenia, Epistaxis OMIM:619463
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Splenomegaly OMIM:231000
Chronic Intestinal Pseudoobstruction
Abnormal platelet morphology ORPHA:2978
Purine Nucleoside Phosphorylase Deficiency
Recurrent upper respiratory tract infections, Recurrent viral infections, Autoimmune thrombocytop... OMIM:613179
Boutonneuse Fever
Petechiae, Leukopenia, Increased circulating IgG level, Increased circulating IgM level, Maculopa... ORPHA:83313
Familial Hemophagocytic Lymphohistiocytosis
Bruising susceptibility, Petechiae, Reduced natural killer cell activity, Ecchymosis, Hemophagocy... ORPHA:540
Hepatoportal Sclerosis
Leukopenia, Gastrointestinal hemorrhage, Splenomegaly, Anemia, Abnormal bleeding, Prolonged proth... ORPHA:64743
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Decreased eosinophil count, Peritonitis, Periodontitis, Thr... ORPHA:2686
Whim Syndrome 1
Recurrent upper respiratory tract infections, Recurrent bacterial infections OMIM:193670
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Thrombocytopenia ORPHA:49827
Lig4 Syndrome
Pancytopenia, Thrombocytopenia, Psoriasiform dermatitis OMIM:606593
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failure, Dysphagia, Abnormal intestine ... ORPHA:85446
Babesiosis
Leukopenia, Thrombocytopenia, Hemolytic anemia, Splenomegaly ORPHA:108
Congenital Toxoplasmosis
Anemia, Thrombocytopenia ORPHA:858
Adult Idiopathic Neutropenia
Recurrent infections, Recurrent bacterial infections, Helicobacter pylori infection, Recurrent fu... ORPHA:2688
Trichohepatoenteric Syndrome 1
Thrombocytosis, Increased mean platelet volume OMIM:222470
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukopenia, Leukocytosis, Infectious encephalitis, Myocarditis, N... ORPHA:292
Prolidase Deficiency
Recurrent pneumonia, Petechiae, Splenomegaly, Eczema, Anemia, Increased circulating antibody leve... OMIM:170100
Aggressive Systemic Mastocytosis
Pancytopenia, Abnormal mast cell morphology, Hepatosplenomegaly, Leukemia, Leukocytosis, Gastroin... ORPHA:98850
Proteasome-Associated Autoinflammatory Syndrome 3
Sinusitis, Myositis, Splenomegaly, Thrombocytopenia, Conjunctivitis, Increased circulating antibo... OMIM:617591
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Congenital thrombocytopenia, Petechiae, Amegakaryocytic thrombocytopenia, Aplastic anemia, Purpura OMIM:605432
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Monocytosis, Hepatosplenomegaly, Hemophagocytosis, Maculopapular exanthema, ... OMIM:619644
Congenital Rubella Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Skin rash ORPHA:290
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Cheilitis... ORPHA:90045
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Cerebellar hemorrhage, Tubulointerstitial nephritis, Pancreatitis, Thrombocytopenia OMIM:251000
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent cutaneous fungal infections, Severe recurrent varicella, Recurrent bacterial infections... ORPHA:276
Macrophage Activation Syndrome
Hemophagocytosis, Increased inflammatory response, Splenomegaly, Abnormal natural killer cell cou... ORPHA:158061
Pseudo-Torch Syndrome 3
Lymphadenitis, Leukocytosis, Anemia, Cerebral hemorrhage, Congenital thrombocytopenia OMIM:618886
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections OMIM:616873
Typhoid
Cardiac arrest, Gastrointestinal hemorrhage, Arrhythmia, Constipation, Abdominal pain, Diarrhea, ... ORPHA:99745
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Thrombocytopenia, Thiamine-responsive megaloblastic anemia OMIM:249270
Kasabach-Merritt Syndrome
Petechiae, Leukopenia, Purpura, Neutropenia, Anemia, Reticulocytosis, Microangiopathic hemolytic ... ORPHA:2330
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Acute myeloid leukemia, Splenomegaly, Neutrop... ORPHA:158057
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Immunodeficiency 67
Recurrent staphylococcal infections, Recurrent streptococcal infections OMIM:607676
Burkitt Lymphoma
Nausea and vomiting, Abdominal pain, Gastrointestinal hemorrhage, Intestinal obstruction ORPHA:543
Holocarboxylase Synthetase Deficiency
Eczema, Perioral eczema, Thrombocytopenia, Keratoconjunctivitis ORPHA:79242
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Leukopenia, Hepatosplenomegaly, Reduced natural killer cell activity, Hemophagocyto... OMIM:603553
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly, Pericarditis ORPHA:163596
Wilson Disease
Bruising susceptibility, Splenomegaly, Anemia, Hepatitis, Acute hepatitis, Thrombocytopenia, Arth... ORPHA:905
Preeclampsia
Thrombocytopenia ORPHA:275555
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thrombocytopenia, Increased mean platelet volume ORPHA:487796
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections OMIM:606843
Stt3B-Cdg
Thrombocytopenia ORPHA:370924
Good Syndrome
Sinusitis, Recurrent skin infections, Decreased circulating antibody level, Bronchiectasis, Abnor... ORPHA:169105
Pemphigus Vulgaris
Autoimmunity, Recurrent infections, Recurrent cutaneous abscess formation ORPHA:704
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Retinal telangiectasia, Portal hypertension, Gastrointestinal hemorrhage, Esophageal varix OMIM:617341
Desmoid Tumor
Gastrointestinal hemorrhage, Desmoid tumors, Abdominal pain, Malabsorption, Intestinal polyposis,... ORPHA:873
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia OMIM:615597
Fetal Gaucher Disease
Pancytopenia, Splenomegaly, Thrombocytopenia, Abnormality of the spleen, Intracranial hemorrhage ORPHA:85212
Propionic Acidemia
Pancytopenia, Cerebellar hemorrhage, Eczema, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia OMIM:606054
Hemophagocytic Lymphohistiocytosis, Familial, 1
Leukopenia, Hemophagocytosis, Infectious encephalitis, Splenomegaly, Anemia, Prolonged prothrombi... OMIM:267700
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hashimoto thyroiditis, Leukocytosis, Thrombocytopenia ORPHA:83601
Autosomal Dominant Severe Congenital Neutropenia
Recurrent ear infections, Recurrent viral infections, Recurrent bacterial infections, Recurrent i... ORPHA:486
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612926
Chediak-Higashi Syndrome
Bruising susceptibility, Leukopenia, Giant neutrophil granules, Hemophagocytosis, Periodontitis, ... OMIM:214500
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmunity, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Peritonitis, Increased circulating IgA level, Recurrent aphthous sto... ORPHA:343
Cog8-Cdg
Prolonged prothrombin time, Spontaneous hematomas, Protein-losing enteropathy ORPHA:95428
Snakebite Envenomation
Ecchymosis, Gingival bleeding, Thrombocytopenia, Abnormal bleeding, Intracranial hemorrhage, Epis... ORPHA:449285
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Bone marrow hypocellularity, Hepatosplenomegaly, Thrombocytopenia ORPHA:210136
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Atopic dermatitis, Thrombocytopenia, Hypochromic microcytic anemia ORPHA:3240
Griscelli Syndrome
Leukopenia, Bone marrow hypocellularity, Splenomegaly, Decreased circulating antibody level, Abno... ORPHA:381
Hellp Syndrome
Decreased mean corpuscular hemoglobin concentration, Hemolytic anemia, Cerebral hemorrhage, Micro... ORPHA:244242
Blue Rubber Bleb Nevus
Intestinal bleeding, Iron deficiency anemia, Thrombocytopenia OMIM:112200
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Recurrent fungal infections, Rec... OMIM:147060
Noonan Syndrome 9
Prolonged prothrombin time, Pulmonic stenosis OMIM:616559
Shwachman-Diamond Syndrome 2
Neutropenia, Prolonged prothrombin time, Thrombocytopenia, Normocytic anemia OMIM:617941
Atrial Septal Defect, Ostium Secundum Type
Left-to-right shunt, Bundle branch block, Increased pulmonary vascular resistance, Atrial fibrill... ORPHA:99103
Extracranial Carotid Artery Aneurysm
Autoimmunity, Severe infection, Extrapulmonary tuberculosis, Arteritis, Vasculitis, Hypertension,... ORPHA:494424
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Neutropenia, Anemia, Thrombocytopenia OMIM:614857
Mpi-Cdg
Portal hypertension, Gastrointestinal hemorrhage, Decreased liver function, Protein-losing entero... ORPHA:79319
Immunodeficiency 21
Recurrent mycobacterium avium complex infections, Recurrent viral infections, Recurrent fungal in... OMIM:614172
Gaucher Disease, Type I
Pancytopenia, Splenomegaly, Anemia, Hypersplenism, Thrombocytopenia, Epistaxis OMIM:230800
Congenital Disorder Of Glycosylation, Type Ih
Anemia, Thrombocytopenia OMIM:608104
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections OMIM:202700
Zika Virus Disease
Arthritis, Increased circulating IgM level, Infectious encephalitis, Maculopapular exanthema, Sub... ORPHA:448237
Gaucher Disease Type 1
Pancytopenia, Bruising susceptibility, Leukopenia, Gingival bleeding, Osteoarthritis, Splenomegal... ORPHA:77259
Polycythemia Vera
Bruising susceptibility, Portal hypertension, Gastrointestinal hemorrhage, Gingival bleeding, Pul... ORPHA:729
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, T lymphocytopenia, Decreased proportion of memory B cells, Hepatosplenomegaly, Pulm... ORPHA:79124
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Esophageal neoplasm, Neoplasm of the gastrointestinal tract, Gastr... ORPHA:44890
Bacterial Toxic-Shock Syndrome
Increased circulating metamyelocyte count, Sinusitis, Myositis, Recurrent skin infections, Pneumo... ORPHA:36234
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Megaloblastic anemia, Neutropenia, Stomatitis, Thrombocytopenia, Skin rash OMIM:277380
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent otitis media, Infectious encephalitis, Recurrent bacterial infections, Meningitis, Ente... OMIM:307200
Congenital Bile Acid Synthesis Defect Type 4
Hematochezia ORPHA:79095
Postinfectious Vasculitis
Vasculitis in the skin, Raynaud phenomenon, Recurrent streptococcus pneumoniae infections, Recurr... ORPHA:48435
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Congestive heart failure, Cerebellar hemorrhage, Hypertrophic cardiomyopa... ORPHA:99901
Polymyositis
Dilated cardiomyopathy, Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failure, Consti... ORPHA:732
Immunodeficiency 22
Autoimmunity, Recurrent respiratory infections OMIM:615758
Carney-Stratakis Syndrome
Gastrointestinal stroma tumor, Gastrointestinal hemorrhage, Abdominal pain, Dysphagia, Intestinal... ORPHA:97286
Peutz-Jeghers Syndrome
Esophageal neoplasm, Abnormality of the gastrointestinal tract, Gastrointestinal carcinoma, Gastr... ORPHA:2869
Atrial Septal Defect, Coronary Sinus Type
Systolic heart murmur, Arrhythmia, Abnormally loud pulmonic component of the second heart sound, ... ORPHA:99104
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Neutropenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity OMIM:614520
Noonan Syndrome
Feeding difficulties in infancy, Abnormal platelet function, Abnormal bleeding, Arrhythmia ORPHA:648
Congenital Disorder Of Glycosylation, Type Iig
Anemia, Thrombocytopenia OMIM:611209
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Schistocytosis, Purpura, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:235400
Pediatric Systemic Lupus Erythematosus
Myositis, Leukopenia, Malar rash, Nephritis, Discoid lupus rash, Lymphopenia, Microangiopathic he... ORPHA:93552
Classical-Like Ehlers-Danlos Syndrome Type 1
Bruising susceptibility, Gastrointestinal hemorrhage, Arrhythmia ORPHA:230839
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Splenomegaly, Impaired T cell function, Inflammation of the large intestine, Abnorm... OMIM:614576
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Leukopenia, Bone marrow hypocellularity, Aplastic anemia, Thrombocytopenia OMIM:613989
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Recurrent Aspergillus infections... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Recurrent Aspergillus infections... OMIM:233710
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio, Nephritis OMIM:609057
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Thrombocytopenia OMIM:616577
Budd-Chiari Syndrome
Portal hypertension, Gastrointestinal hemorrhage, Peritonitis, Esophageal varix, Abdominal pain, ... ORPHA:131
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Sepsis, Epistaxis OMIM:612840
Juvenile Polyposis Syndrome
Neoplasm of the gastrointestinal tract, Gastrointestinal hemorrhage, Colon cancer, Abnormal onset... ORPHA:2929
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Splenomegaly, Osteomyelitis, Anemia, Thrombocytopenia OMIM:259700
Zollinger-Ellison Syndrome
Hematochezia, Nausea, Gastrointestinal hemorrhage, Zollinger-Ellison syndrome, Duodenal ulcer, Es... ORPHA:913
Q Fever
Pneumonia, Hepatosplenomegaly, Purpura, Infectious encephalitis, Maculopapular exanthema, Cholecy... ORPHA:781