Gene: Vwf MGI:98941

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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:
Von Willebrand factor
Synonyms:
B130011O06Rik,  6820430P06Rik

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
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Athrombia, Essential
Impaired platelet aggregation, Abnormal bleeding, Prolonged bleeding time, Impaired platelet adhe... OMIM:209050
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Thrombocytopenia 7
Reduced platelet alpha granules, Post-partum hemorrhage, Impaired ADP-induced platelet aggregatio... OMIM:619130
Bleeding Disorder, Platelet-Type, 24
Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platel... OMIM:619271
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Platelet Aggregation, Spontaneous
Spontaneous platelet aggregation, Abnormal platelet function OMIM:173400
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Prolonged bleeding time, Abnormal bleeding, Giant platelets OMIM:608404
Glanzmann Thrombasthenia 2
Prolonged bleeding after surgery, Prolonged bleeding time, Impaired epinephrine-induced platelet ... OMIM:619267
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal h... ORPHA:231393
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Abnormal bleeding, Macrothrombocytopenia, Thrombocytopenia, Petech... OMIM:187800
Bleeding Disorder, Platelet-Type, 18
Impaired platelet aggregation, Prolonged bleeding time, Epistaxis OMIM:615888
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation, Subcutaneous hemorrhage, Excessive bleeding from superficial cuts OMIM:618462
Macrothrombocytopenia and progressive sensorineural deafness
Abnormal bleeding, Prolonged bleeding time, Macrothrombocytopenia, Thrombocytopenia, Giant platel... OMIM:600208
Platelet Signal Processing Defect
Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platel... OMIM:173590
Glanzmann Thrombasthenia 1
Impaired platelet aggregation, Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, Int... OMIM:273800
Bernard-Soulier Syndrome
Prolonged bleeding after surgery, Abnormal bleeding, Prolonged bleeding time, Gastrointestinal he... OMIM:231200
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Epistaxis, Menorrhagia, Bruising susceptibility, Ecchymosis OMIM:614201
Sebastian syndrome
Prolonged bleeding time, Epistaxis, Thrombocytopenia, Leukocyte inclusion bodies, Giant platelets... OMIM:605249
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time, Epistaxis, Ecchymosis, Bruising susceptibility OMIM:614158
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet ... OMIM:187950
+173470 integrin, beta-3
Impaired platelet aggregation, Abnormal bleeding, Gastrointestinal hemorrhage, Purpura, Intracran... OMIM:173470
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Thrombocytopenia, Leukocyte inclusion bodi... OMIM:155100
Glanzmann Thrombasthenia
Prolonged bleeding after surgery, Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, ... ORPHA:849
Platelet Disorder, Undefined
Thrombocytopenia, Abnormal bleeding, Impaired platelet aggregation, Prolonged bleeding time OMIM:173420
Immunodeficiency, Common Variable, 5
Antinuclear antibody positivity, Recurrent respiratory infections, Recurrent bacterial infections OMIM:613495
Bleeding Disorder, Platelet-Type, 8
Persistent bleeding after trauma, Abnormal bleeding, Prolonged bleeding after surgery, Impaired A... OMIM:609821
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Prolonged bleeding after dental extraction, Thrombocytopenia, Giant ... OMIM:137560
Slc35A1-Cdg
Abnormal bleeding, Pulmonary hemorrhage, Prolonged bleeding time, Neutropenia, Pneumonia, Thrombo... ORPHA:238459
Von Willebrand Disease, Type 3
Impaired platelet aggregation, Abnormal bleeding, Persistent bleeding after trauma, Prolonged ble... OMIM:277480
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Epistaxis, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Fechtner syndrome
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia, Leukocyte inclusion bodies, Menorrh... OMIM:153640
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia, Abnormal bleeding OMIM:188030
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Thrombocytopenia, Menorrhagia, Eczema, Psoriasiform dermatitis OMIM:617443
Factor V Deficiency
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Menorrhagia, Bruising susceptibility, Prol... OMIM:227400
Prothrombin Deficiency, Congenital
Joint hemorrhage, Prolonged bleeding time, Gastrointestinal hemorrhage, Prolonged prothrombin tim... OMIM:613679
Myh9-Related Disease
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Congenital thrombocytopenia, Increased... ORPHA:182050
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent mycobacterial infections, Recurrent viral infections OMIM:613796
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... OMIM:300835
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation, Bruising susceptibility, Epistaxis,... OMIM:614009
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Impaired platelet aggregation, Acute monocytic leukemia, Prolonged bleeding time, Abnormal alpha ... OMIM:601399
Von Willebrand Disease
Abnormal thrombocyte morphology, Abnormal platelet function ORPHA:903
Gray Platelet Syndrome
Abnormal bleeding, Prolonged bleeding time, Abnormal number of alpha granules, Impaired thrombin-... OMIM:139090
Quebec Platelet Disorder
Joint hemorrhage, Impaired epinephrine-induced platelet aggregation, Epistaxis, Thrombocytopenia,... OMIM:601709
Immunodeficiency 34
Severe recurrent varicella, Recurrent mycobacterial infections OMIM:300645
Von Willebrand Disease, Type 1
Impaired platelet aggregation, Persistent bleeding after trauma, Prolonged bleeding after surgery... OMIM:193400
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Gastric adenocarcinoma, Fundic gland polyposis, Abdominal pain, Melena OMIM:619182
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Bleeding Disorder, Platelet-Type, 17
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Thrombocytope... OMIM:187900
Bleeding Disorder, Platelet-Type, 12
Impaired platelet aggregation, Joint hemorrhage, Intestinal bleeding, Epistaxis, Menorrhagia, Bru... OMIM:605735
Mannose-Binding Lectin Deficiency
Recurrent herpes, Disseminated cryptosporidium infection, Recurrent meningococcal disease, Recurr... OMIM:614372
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Fetal And Neonatal Alloimmune Thrombocytopenia
Cephalohematoma, Abnormal bleeding, Gastrointestinal hemorrhage, Purpura, Intracranial hemorrhage... ORPHA:853
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia, Abnormal bleeding, Pyloric stenosis, Prolonged bleeding time OMIM:188025
Thrombocytopenia 2
Thrombocytopenia, Bruising susceptibility OMIM:188000
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia, Bruising susceptibility OMIM:614200
Thrombocytopenia With Beta-Thalassemia, X-Linked
Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Epistaxis, Thrombocytopenia, Petechia... OMIM:314050
Thrombocytopenia, Cyclic
Thrombocytopenia, Abnormal bleeding, Neutropenia, Cyclic neutropenia OMIM:188020
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections OMIM:308220
Hemophilia B
Prolonged bleeding after surgery, Cephalohematoma, Prolonged bleeding time, Joint hemorrhage, Spo... ORPHA:98879
Storage Pool Platelet Disease
Abnormal bleeding, Decreased mean platelet volume, Prolonged bleeding time, Acute leukemia OMIM:185050
Acquired Von Willebrand Syndrome
Persistent bleeding after trauma, Joint hemorrhage, Aortic regurgitation, Gastrointestinal hemorr... ORPHA:99147
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Agammaglobulinemia 2, Autosomal Recessive
Meningitis, Recurrent respiratory infections, Recurrent bacterial infections, Recurrent pneumonia OMIM:613500
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Skin rash, Autoimmune hemolytic anemia, Re... OMIM:619374
Bernard-Soulier Syndrome
Prolonged bleeding after surgery, Abnormal bleeding, Gastrointestinal hemorrhage, Hematemesis, Sp... ORPHA:274
Sitosterolemia 1
Impaired platelet aggregation, Abnormal bleeding, Episodic hemolytic anemia, Chronic hemolytic an... OMIM:210250
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent streptococcus pneumoniae infections, Recurrent staphylococcal infections, Recurrent bac... ORPHA:70592
Bleeding Disorder, Platelet-Type, 19
Abnormal bleeding, Spontaneous hematomas, Epistaxis, Macrothrombocytopenia, Menorrhagia, Anemia OMIM:616176
Ataxia-Pancytopenia Syndrome
Abnormal platelet function, Abnormality of neutrophils, Abnormal macrophage morphology, Acute mye... ORPHA:2585
Blue Rubber Bleb Nevus
Gastrointestinal infarctions, Volvulus, Prolonged bleeding time, Intestinal bleeding ORPHA:1059
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Stomatocytosis, Prolonged bleeding after dental extraction, Increased mean plat... OMIM:153670
Complement Component 8 Deficiency, Type I
Meningitis, Systemic lupus erythematosus OMIM:613790
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Hermansky-Pudlak Syndrome 5
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Thrombocytopenia, Menorrhagia, Bruising su... OMIM:614074
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Hermansky-Pudlak Syndrome 6
Abnormal bleeding, Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Bruising s... OMIM:614075
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Congenital Factor V Deficiency
Persistent bleeding after trauma, Prolonged bleeding after surgery, Joint hemorrhage, Gastrointes... ORPHA:326
Neuroendocrine Tumor Of The Rectum
Lack of bowel sounds, Palpitations, Tenesmus, Right ventricular failure, Bowel urgency, Hematoche... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Lack of bowel sounds, Palpitations, Tenesmus, Right ventricular failure, Bowel urgency, Hematoche... ORPHA:100082
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Myelolymphatic Insufficiency
Recurrent viral infections, Recurrent bacterial infections OMIM:310350
Congenital Factor Vii Deficiency
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Intracranial hem... ORPHA:327
Hermansky-Pudlak Syndrome 7
Impaired platelet aggregation, Abnormal bleeding, Bruising susceptibility, Epistaxis OMIM:614076
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections OMIM:242870
Neurofibromatosis-Noonan Syndrome
Dysphagia, Pulmonic stenosis, Prolonged bleeding time, Hypertrophic cardiomyopathy ORPHA:638
Immunodeficiency 12
Recurrent viral infections, Recurrent bacterial infections OMIM:615468
Neuroendocrine Tumor Of The Colon
Lack of bowel sounds, Palpitations, Right ventricular failure, Bowel urgency, Abdominal pain, Hyp... ORPHA:100080
Familial Hypofibrinogenemia
Abnormal bleeding, Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage ORPHA:101041
Familial Dysfibrinogenemia
Abnormal bleeding, Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage ORPHA:98881
Gray Platelet Syndrome
Abnormal bleeding, Epistaxis, Thrombocytopenia, Splenomegaly, Abnormal thrombocyte morphology, Br... ORPHA:721
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections OMIM:616022
Amegakaryocytic Thrombocytopenia, Congenital
Thrombocytopenia, Pancytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
C1Q Deficiency
Autoimmunity, Systemic lupus erythematosus, Recurrent infections OMIM:613652
Immunodeficiency 35
Recurrent viral infections, Recurrent respiratory infections, Recurrent mycobacterial infections,... OMIM:611521
Congenital Factor X Deficiency
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Prolonged bleedi... ORPHA:328
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Thrombocytopenia, Hepatosplenomegaly, Anemia OMIM:610539
Congenital Factor Ii Deficiency
Cephalohematoma, Abnormal bleeding, Joint hemorrhage, Intracranial hemorrhage, Prolonged bleeding... ORPHA:325
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia, Menorrhagia, Bruising susceptibility, Epistaxis OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia, Menorrhagia, Bruising susceptibility, Epistaxis OMIM:613554
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Pancytopenia And Occlusive Vascular Disease
Thrombocytopenia, Leukopenia, Pancytopenia, Anemia OMIM:167850
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent abscess formation, Recurrent Staphylococc... OMIM:613860
Complement Component 3 Deficiency, Autosomal Recessive
Systemic lupus erythematosus, Recurrent bacterial infections OMIM:613779
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Decreased mean platelet volume, Prolonged bleeding time, Sma... OMIM:301000
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Decreased proportion of CD8-positive T cells, Thrombocytopenia, E... OMIM:614493
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bronchitis, Recurrent otitis media, Recurrent respiratory infections, Recurrent bacteri... OMIM:613501
Thrombocytopenia 1
Decreased mean platelet volume, Increased circulating IgE level, Intermittent thrombocytopenia, J... OMIM:313900
Factor Vii And Factor Viii, Combined Deficiency Of
Intestinal bleeding OMIM:134430
Essential Thrombocythemia
Prolonged bleeding time, Myocardial infarction, Abnormal thrombocyte morphology, Transient ischem... ORPHA:3318
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia, Purpura ORPHA:529
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Inflammation of the large intestine, Decreased mean platelet volume, Hemo... OMIM:600903
Hermansky-Pudlak Syndrome 1
Inflammation of the large intestine, Prolonged bleeding time, Hematochezia, Abdominal pain, Cardi... OMIM:203300
Refractory Anemia
Erythroid hypoplasia, Abnormal bleeding, Neutropenia, Normocytic anemia, Thrombocytopenia, Normoc... ORPHA:98826
Plasma Clot Retraction Factor, Deficiency Of
Bruising susceptibility, Gastrointestinal hemorrhage OMIM:262800
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Glomerulonephritis, Abnormal bleeding, Increased circulating IgA level OMIM:314000
Neuroendocrine Tumor Of Stomach
Cardiogenic shock, Palpitations, Lack of bowel sounds, Poor appetite, Right ventricular failure, ... ORPHA:100075
Factor X Deficiency
Joint hemorrhage, Intracranial hemorrhage, Epistaxis, Menorrhagia, Gingival bleeding, Prolonged p... OMIM:227600
Immunodeficiency 61
Recurrent otitis media, Recurrent sinusitis, Recurrent bacterial infections, Frequent Giardia lam... OMIM:300310
Alpha-Thalassemia-Myelodysplastic Syndrome
Abnormal bleeding, Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly... ORPHA:231401
Colonic Varices Without Portal Hypertension
Colonic varices, Intestinal bleeding OMIM:120440
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent viral infections, Recurrent fungal infections, Recurrent bacterial infections OMIM:614868
Hermansky-Pudlak Syndrome 11
Epistaxis, Impaired collagen-induced platelet aggregation, Reduced platelet dense granules, Menor... OMIM:619172
Deafness-Lymphedema-Leukemia Syndrome
Prolonged bleeding time, Leukocytosis, Intracranial hemorrhage, Chronic otitis media, Bruising su... ORPHA:3226
Acute Myelomonocytic Leukemia
Abnormal bleeding, Leukocytosis, Thrombocytopenia, Anemia, Eosinophilia ORPHA:517
Inflammatory Bowel Disease 11
Inflammation of the large intestine, Abdominal pain, Diarrhea, Hematochezia OMIM:191390
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia OMIM:131400
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Morphological abnormality of the gastrointestinal tract, Intestinal perforation, Gastrointestinal... ORPHA:464321
Combined Deficiency Of Factor V And Factor Viii
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Bleeding with mi... ORPHA:35909
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Thrombocytopenia 3
Thrombocytopenia, Petechiae, Decreased mean platelet volume, Epistaxis OMIM:273900
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent fungal infections, Subarachnoid hemorrhage, Recurrent viral infections, Recurrent sinop... OMIM:243700
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... OMIM:615285
Immunodeficiency 51
Recurrent bronchitis, Chronic oral candidiasis, Recurrent Staphylococcus aureus infections, Recur... OMIM:613953
Immunoglobulin A Deficiency 1
Autoimmunity, Recurrent infections, Recurrent respiratory infections, Recurrent infection of the ... OMIM:137100
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Anemia, Splenomegaly, Leukemia OMIM:133180
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, BCGosis, Histoplasmosis, Severe toxoplasmosis, Vasculit... ORPHA:319552
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Bone marrow hypocellularity, Leukopenia OMIM:615715
Thrombocytopenia 5
Neutropenia, Epistaxis, Thrombocytopenia, Petechiae, Anemia, Bruising susceptibility OMIM:616216
Pelger-Huet Anomaly
Abnormality of neutrophils, Recurrent otitis media, Hyposegmentation of neutrophil nuclei, Neutro... OMIM:169400
Specific Granule Deficiency 2
Absent neutrophil specific granules, Recurrent otitis media, Neutropenia, Thrombocytopenia, Anemi... OMIM:617475
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Subcutaneous hemorrhage ORPHA:1980
Cap Polyposis
Abdominal pain, Hematochezia, Constipation, Chronic atrophic gastritis, Colorectal polyposis, Dia... ORPHA:160148
Agammaglobulinemia 6, Autosomal Recessive
Recurrent bronchitis, Recurrent pneumonia, Recurrent otitis media, Recurrent bacterial infections... OMIM:612692
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Sea-Blue Histiocyte Disease
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Congenital Disorder Of Glycosylation, Type Iif
Pulmonary hemorrhage, Neutropenia, Macrothrombocytopenia, Thrombocytopenia, Decreased platelet gl... OMIM:603585
Klippel-Trénaunay Syndrome
Prolonged bleeding time, Gastrointestinal hemorrhage, Internal hemorrhage, Pulmonary embolism, Co... ORPHA:90308
Enterocolitis
Enterocolitis, Ulcerative colitis, Abdominal distention, Hematochezia OMIM:226150
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Purpura, Epistaxis, Thrombocytopenia, Petechiae, Cerebral hemorrhage... ORPHA:3002
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent viral infections, Recurrent bacterial infections OMIM:608957
Masp2 Deficiency
Systemic lupus erythematosus, Recurrent pneumonia OMIM:613791
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Congenital Dyserythropoietic Anemia Type Iii
Post-partum hemorrhage, Oral cavity bleeding, Gingival bleeding, Melena ORPHA:98870
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume OMIM:252270
Duodenal Neuroendocrine Tumor
Cardiogenic shock, Palpitations, Intestinal carcinoid, Arrhythmia, Right ventricular failure, Fun... ORPHA:100076
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume, Inflammation of the large intestine OMIM:617718
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Persistent bleeding after trauma, Congenital thrombocytopenia, Epistaxis, Petechiae, Anemia of in... OMIM:300367
Vascular Hyalinosis
Hematochezia, Subarachnoid hemorrhage, Protein-losing enteropathy, Diarrhea, Malabsorption OMIM:277175
Agammaglobulinemia 4, Autosomal Recessive
Recurrent bacterial infections, Recurrent otitis media, Recurrent respiratory infections, Recurre... OMIM:613502
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Hermansky-Pudlak Syndrome 8
Impaired platelet aggregation, Abnormal bleeding, Epistaxis, Menorrhagia, Bruising susceptibility... OMIM:614077
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Prolonged bleeding time, Chronic oral candidiasis, Reduced natural killer ce... OMIM:608233
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections, Autoimmune hemolytic a... OMIM:608184
Fanconi Anemia, Complementation Group T
Thrombocytopenia, Bone marrow hypocellularity, Pancytopenia, Anemia OMIM:616435
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Immunoglobulin A Deficiency 2
Autoimmunity, Recurrent infection of the gastrointestinal tract, Recurrent sinopulmonary infections OMIM:609529
Acquired Idiopathic Sideroblastic Anemia
Abnormal bleeding, Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutr... ORPHA:75564
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Recurrent up... OMIM:605258
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Cernunnos-Xlf Deficiency
T lymphocytopenia, Decreased circulating antibody level, Lymphopenia, Thrombocytopenia, B lymphoc... ORPHA:169079
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent opportunistic infections, Recurrent upper and lower respiratory tract infections, Recur... ORPHA:275
Autoerythrocyte Sensitization Syndrome
Thrombocytosis, Joint hemorrhage, Impaired platelet adhesion, Gastrointestinal hemorrhage, Autoim... ORPHA:324636
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding OMIM:600195
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Colitis, Crohn's disease, Perianal abscess, Enterocolitis OMIM:613148
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Neutropenia, Anemia OMIM:614082
Nephrotic Syndrome, Type 7
Thrombocytopenia, Glomerulonephritis, Hemolytic anemia OMIM:615008
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Gastrointestinal hemorrhage, Leukocytosis, Increased hemogl... OMIM:263300
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Immunodeficiency, Common Variable, 12, With Autoimmunity
Bronchiectasis, Autoimmune hemolytic anemia, Decreased circulating antibody level, Recurrent sinu... OMIM:616576
Congenital Factor Xi Deficiency
Abnormal bleeding, Joint hemorrhage, Gastrointestinal hemorrhage, Prolonged bleeding after dental... ORPHA:329
Wiskott-Aldrich Syndrome
Chronic leukemia, Intracranial hemorrhage, Neutropenia, Anemia, Sinusitis, Eczema, Otitis media, ... ORPHA:906
Juvenile Polyposis Of Infancy
Abnormal bleeding, Intestinal bleeding, Gastrointestinal hemorrhage, Hematochezia, Abdominal pain... ORPHA:79076
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Iron deficiency anemia, Impaired platelet aggregation OMIM:618372
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Poor suck, Gastrointestinal hemorrhage, Dysphagia, Gastroesophageal reflux, Esophageal neoplasm, ... ORPHA:2198
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly, Chilblains OMIM:610329
Immunodeficiency, Common Variable, 4
Recurrent sinusitis, Recurrent bacterial infections, Recurrent pneumonia OMIM:613494
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Abnormal natural killer cell physiology, Decreased circulating antibody level, ... OMIM:613101
Bone Marrow Failure Syndrome 4
Decreased circulating antibody level, Thrombocytopenia, Anemia, Leukopenia, Eczema, Bone marrow h... OMIM:618116
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Skin rash, Neutropenia, Thrombocytopenia, Conjunctivitis, Anemia, Splenomegaly OMIM:603552
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Autoimmunity, Recurrent otitis media, Recurrent urinary tract infect... OMIM:618495
Immunodeficiency 46
Intermittent thrombocytopenia, Chronic oral candidiasis, Decreased circulating antibody level, Ne... OMIM:616740
Autoinflammatory Syndrome, Familial, Behcet-Like
Skin rash, Hemolytic anemia, Lymphopenia, Colitis, Thrombocytopenia, Anterior uveitis OMIM:616744
Transcobalamin Deficiency
Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytopenia, Pancytopenia, D... ORPHA:859
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
T-Cell Receptor-Alpha/Beta Deficiency
Autoimmunity, Recurrent infections OMIM:615387
Idiopathic Aplastic Anemia
Neutropenia, Epistaxis, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Retinal hemorrhage, Gi... ORPHA:88
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Systemic Lupus Erythematosus
Hemolytic anemia, Pericarditis, Thrombocytopenia, Lupus nephritis, Malar rash, Leukopenia, Nephri... OMIM:152700
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Abnormal bleeding, Epistaxis, Prolonged prothrombin time OMIM:610842
Dentinogenesis Imperfecta
Prolonged bleeding time, Bruising susceptibility ORPHA:49042
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Wolfram Syndrome 2
Decreased circulating antibody level, Abnormal bleeding, Impaired collagen-induced platelet aggre... OMIM:604928
Malaria
Thrombocytopenia, Anemia ORPHA:673
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hypoplastic anemia, A... OMIM:159550
Isolated Agammaglobulinemia
Skin rash, Abnormality of neutrophils, Abnormal lymphocyte morphology, Pneumonia, Thrombocytopeni... ORPHA:229717
Hemophilia B
Persistent bleeding after trauma, Abnormal bleeding, Joint hemorrhage, Gastrointestinal hemorrhage OMIM:306900
Mixed Connective Tissue Disease
Skin rash, Prolonged bleeding time, Hemolytic anemia, Pericarditis, Purpura, Gastrointestinal hem... ORPHA:809
Thyrocerebrorenal Syndrome
Thrombocytopenia, Nephritis ORPHA:3327
Hemophilia A With Vascular Abnormality
Persistent bleeding after trauma, Capillary fragility, Joint hemorrhage, Gastrointestinal hemorrh... OMIM:306800
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Gastrointestinal arteriovenous malformation, Lip telangiectasia, Gas... OMIM:600376
Complement Factor B Deficiency
Meningitis, Recurrent meningococcal disease, Recurrent bacterial infections OMIM:615561
Congenital Enterocyte Heparan Sulfate Deficiency
Protein-losing enteropathy, Diarrhea, Abdominal distention, Hematochezia ORPHA:103910
Nk-Cell Enteropathy
Gastric ulcer, Abdominal pain, Hematochezia, Constipation, Gastroesophageal reflux, Diarrhea, Abn... ORPHA:263665
Caroli Syndrome
Abnormal bleeding, Hematemesis, Abdominal pain, Esophageal varix, Melena, Thrombocytopenia, Hepat... ORPHA:480520
Acquired Purpura Fulminans
Internal hemorrhage, Intracranial hemorrhage, Thrombocytopenia, Macular purpura, Hepatic failure,... ORPHA:49566
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia, Increased circulating antibody level, Skin rash OMIM:618048
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Mucoepithelial Dysplasia, Hereditary
Chronic diarrhea, Corneal neovascularization, Melena OMIM:158310
Complement Component C1R/C1S Deficiency
Autoimmunity, Recurrent bronchitis OMIM:216950
Lujo Hemorrhagic Fever
Gastrointestinal hemorrhage, Acute hepatic failure, Diarrhea, Cardiac arrest, Nausea and vomiting ORPHA:319213
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Systemic lupus erythematosus, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Autoimmun... ORPHA:444463
Immunodeficiency, Common Variable, 2
Recurrent bronchitis, Autoimmunity, Recurrent otitis media, Recurrent sinusitis, Meningitis, Recu... OMIM:240500
Congenital Fibrinogen Deficiency
Abnormal bleeding, Prolonged prothrombin time, Internal hemorrhage, Abdominal pain, Tachycardia, ... ORPHA:335
Angioma, Hereditary Neurocutaneous
Gastrointestinal hemorrhage OMIM:106070
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Decreased circulating antibody ... OMIM:308240
Immunodeficiency 62
Bronchiectasis, Autoimmune thrombocytopenia OMIM:618459
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
Turcot Syndrome With Polyposis
Hematochezia, Abdominal pain, Constipation, Nausea, Desmoid tumors, Melena, Diarrhea, Adenomatous... ORPHA:99818
Sea-Blue Histiocytosis
Abnormal bleeding, Thrombocytopenia, Sea-blue histiocytosis, Petechiae, Splenomegaly, Blepharitis ORPHA:158029
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Recurrent sinusitis, Recurrent respiratory infections, Recurrent bacteria... OMIM:613493
Eosinophilic Gastroenteritis
Hematochezia, Abdominal pain, Abnormality of the gastrointestinal tract, Dysphagia, Steatorrhea, ... ORPHA:2070
Thyrocerebroretinal Syndrome
Thrombocytopenia, Nephritis OMIM:274240
Zygomycosis
Peritonitis, Pericarditis, Gastrointestinal hemorrhage, Hematemesis, Hematochezia, Abdominal pain... ORPHA:73263
Hemophilia A
Joint hemorrhage, Intraventricular hemorrhage, Gastrointestinal hemorrhage, Bleeding with minor o... ORPHA:98878
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Gastrointestinal arteriovenous malformation, Lip telangiectasia, Gas... OMIM:187300
Leukocyte Adhesion Deficiency
Peritonitis, Bronchiectasis, Pneumonia, Lymphocytic interstitial pneumonia, Sinusitis, Abnormalit... ORPHA:2968
Fanconi Anemia, Complementation Group V
Thrombocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia OMIM:617243
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent herpes, Recurrent fungal infections, Autoimmune thrombocytopenia, Recurrent Staphylococ... ORPHA:572
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Crimean-Congo Hemorrhagic Fever
Skin rash, Abnormal bleeding, Gastrointestinal hemorrhage, Uveitis, Epistaxis, Thrombocytopenia, ... ORPHA:99827
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Beta-Thalassemia
Microcytic anemia, Thrombocytopenia, Hepatitis, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:848
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Recurrent pneumonia, Intermittent thrombocytopenia, Bronchiectasis, Chron... OMIM:150550
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Autoinflammation With Infantile Enterocolitis
Skin rash, Pancytopenia, Reduced natural killer cell count, Thrombocytopenia, Diffuse alveolar he... OMIM:616050
Leishmaniasis
Abnormal bleeding, Abnormal macrophage morphology, Increased circulating antibody level, Pancytop... ORPHA:507
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Multiple gastric polyps, Abnormal bleeding, Rectal polyposis, Hematochezia, Small intestinal poly... ORPHA:329971
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Ebola Hemorrhagic Fever
Skin rash, Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Thrombocytopenia, Leukopeni... ORPHA:319218
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Anemia, Splenomegaly OMIM:615085
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Wolfram Syndrome, Mitochondrial Form
Megaloblastic anemia, Thrombocytopenia, Neutropenia, Sideroblastic anemia OMIM:598500
Selective Igm Deficiency
Recurrent urinary tract infections, Onychomycosis, Pulmonary tuberculosis, Recurrent vulvovaginal... ORPHA:331235
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Thrombocytopenia, Petechiae, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:611490
Severe Hemophilia A
Cephalohematoma, Prolonged bleeding after surgery, Persistent bleeding after trauma, Joint hemorr... ORPHA:169802
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Wt Limb-Blood Syndrome
Thrombocytopenia, Hypoplastic anemia, Pancytopenia, Leukemia OMIM:194350
Moderate Hemophilia A
Prolonged bleeding after surgery, Abnormal bleeding, Joint hemorrhage, Intraventricular hemorrhag... ORPHA:169805
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Neutropenia, Anemia OMIM:616738
Isovaleric Acidemia
Cerebellar hemorrhage, Thrombocytopenia, Pancytopenia, Leukopenia, Bone marrow hypocellularity OMIM:243500
Marburg Hemorrhagic Fever
Skin rash, Abnormal bleeding, Gastrointestinal hemorrhage, Subconjunctival hemorrhage, Thrombocyt... ORPHA:99826
Macs Syndrome
Prolonged bleeding time, Bruising susceptibility OMIM:613075
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Thrombocytopenia, Sideroblastic anemia OMIM:617021
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Recurrent sinusitis, Recurrent pneumonia, Recurrent enteroviral infection... OMIM:601495
Chédiak-Higashi Syndrome
Increased proportion of CD25+ mast cells, Hemophagocytosis, Abnormal platelet function, Skin rash... ORPHA:167
Griscelli Syndrome, Type 2
Recurrent bacterial infections OMIM:607624
Pontocerebellar Hypoplasia, Type 14
Thrombocytopenia, Chronic neutropenia OMIM:619301
Dyskeratosis Congenita, Autosomal Recessive 2
Thrombocytopenia, Bone marrow hypocellularity, Pancytopenia OMIM:613987
Tularemia
Skin rash, Cutaneous abscess, Leukocytosis, Increased circulating antibody level, Pneumonia, Thro... ORPHA:3392
Malignant Atrophic Papulosis
Gastrointestinal infarctions, Constrictive pericarditis, Gastrointestinal hemorrhage OMIM:602248
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased circulating antibody level, D... OMIM:613011
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Increased circulating IgE level, Autoimmune thrombocytopenia, E... OMIM:304790
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Dengue Fever
Gastrointestinal hemorrhage, Abdominal pain, Hypotension, Epistaxis, Thrombocytopenia, Petechiae,... ORPHA:99828
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Increased circulating antibody level, Atopic dermatitis, Splenomegaly OMIM:615846
Radiation Proctitis
Tenesmus, Arteritis, Rectal fistula, Hematochezia, Abnormal rectum morphology, Abnormality of gas... ORPHA:70475
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Leukopenia OMIM:614171
Monosomy 13Q34
Pulmonic stenosis, Epistaxis, Prolonged prothrombin time, Hematochezia ORPHA:96168
Tufted Angioma
Thrombocytopenia, Petechiae, Anemia, Purpura ORPHA:1063
Acute Promyelocytic Leukemia
Ecchymosis, Abnormal bleeding, Purpura, Leukocytosis, Oral cavity bleeding, Neutropenia, Stomatit... ORPHA:520
Primary Myelofibrosis
Ecchymosis, Abnormal bleeding, Thrombocytosis, Purpura, Leukocytosis, Extramedullary hematopoiesi... ORPHA:824
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Increased mean platelet volume OMIM:616737
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent opportunistic infections, Anti-thyroid peroxidase antibody positivity, Recurrent upper ... ORPHA:277
Sengers Syndrome
Thrombocytopenia OMIM:212350
Aicardi-Goutieres Syndrome 5
Thrombocytopenia, Chilblains OMIM:612952
Ghosal Hematodiaphyseal Dysplasia
Thrombocytopenia, Leukopenia, Bone marrow hypocellularity, Refractory anemia OMIM:231095
Infantile Liver Failure Syndrome 2
Vomiting, Cardiomyopathy, Acute hepatic failure, Prolonged prothrombin time OMIM:616483
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia, Abnormal hemoglobin ORPHA:846
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hematochezia, Abdominal pain, Gastrointestinal carcinoma, Anorexia, Protein-losing enteropathy, X... OMIM:175500
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Decreased specific antibody response to vaccination, Thyroiditis, Pneumonia, Panc... OMIM:614700
Omenn Syndrome
Severe B lymphocytopenia, Erythroderma, Pneumonia, Thrombocytopenia, Hypoplasia of the thymus, B ... OMIM:603554
Drug-Induced Lupus Erythematosus
Pericarditis, Thrombocytopenia, Petechiae, Malar rash, Anemia, Serositis ORPHA:231111
Immunodeficiency 33
Disseminated nontuberculous mycobacterial infection, Recurrent bacterial infections OMIM:300636
Immunodeficiency, Common Variable, 1
Recurrent bronchitis, Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Neutropen... OMIM:607594
Bare Lymphocyte Syndrome, Type Ii
Recurrent fungal infections, Recurrent upper respiratory tract infections, Recurrent urinary trac... OMIM:209920
Gaucher Disease, Type Ii
Thrombocytopenia, Recurrent aspiration pneumonia, Anemia, Splenomegaly OMIM:230900
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia ORPHA:67048
Vexas Syndrome
Chondritis of pinna, Inflammatory abnormality of the skin, Arteritis, Neutrophilic infiltration o... OMIM:301054
Multiple Endocrine Neoplasia Type 1
Intestinal carcinoid, Zollinger-Ellison syndrome, Hematemesis, Shortened QT interval, Abdominal p... ORPHA:652
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Thrombocytopenia, Pancytopenia OMIM:613839
Combined Oxidative Phosphorylation Deficiency 14
Thrombocytopenia, Anemia OMIM:614946
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Neonatal Lupus Erythematosus
Skin rash, Abnormal bleeding, Hemolytic anemia, Neutropenia, Maculopapular exanthema, Pancytopeni... ORPHA:398124
Thrombocytopenia 6
Thrombocytopenia, Abnormal bleeding, Spontaneous, recurrent epistaxis OMIM:616937
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Increased circ... OMIM:202700
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Abdominal pain, Gastroesophageal reflux, Feeding difficulties in inf... ORPHA:2924
Osteopetrosis, Autosomal Recessive 2
Chronic rhinitis due to narrow nasal airway, Extramedullary hematopoiesis, Pancytopenia, Thromboc... OMIM:259710
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Cholestasis, Progressive Familial Intrahepatic, 5
Hepatic failure, Prolonged prothrombin time OMIM:617049
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Thrombocytopenia, Pancreatitis, Neutropenia, Anemia ORPHA:289916
Ménétrier Disease
Multiple gastric polyps, Malnutrition, Gastrointestinal hemorrhage, Abdominal pain, Helicobacter ... ORPHA:2494
Amed Syndrome, Digenic
Thrombocytopenia, Acute myeloid leukemia, Anemia, Leukopenia, Bone marrow hypocellularity OMIM:619151
X-Linked Agammaglobulinemia
Skin rash, Recurrent pneumonia, Chronic otitis media, Neutropenia, Thrombocytopenia, Conjunctivit... ORPHA:47
Stormorken Syndrome
Abnormal bleeding, Epistaxis, Thrombocytopenia, Asplenia, Anemia, Howell-Jolly bodies OMIM:185070
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Increased circulating IgM level, Hemolytic anemia, Decreased c... OMIM:308230
Vitamin B12-Unresponsive Methylmalonic Acidemia
Thrombocytopenia, Pancreatitis, Anemia, Leukopenia, Macrocytic anemia ORPHA:27
Dermatosparaxis Ehlers-Danlos Syndrome
Hiatus hernia, Esophagitis, Gastroesophageal reflux, Prolonged bleeding time ORPHA:1901
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Recurrent sinusitis, Neutropenia, Anemia, Increased mea... OMIM:618849
Ganglioneuroma
Functional intestinal obstruction, Gastrointestinal hemorrhage, Abnormal rectum morphology, Hyper... ORPHA:251992
Immunodeficiency With Hyper-Igm, Type 5
Recurrent upper and lower respiratory tract infections, Recurrent bacterial infections OMIM:608106
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent opportunistic infections, Recurrent upper and lower respiratory tract infections, Chron... ORPHA:911
Hereditary Mixed Polyposis Syndrome
Abnormal bleeding, Rectal polyposis, Neoplasm of the gastrointestinal tract, Adenocarcinoma of th... ORPHA:157794
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent Haemophilus influenzae infections, Recurrent bronchitis OMIM:300455
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent fungal infections, Autoimmunity, Recurrent viral infections, Meningitis, Recurrent myco... ORPHA:169090
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Prolonged bleeding after surgery, Persistent bleeding after trauma, Joint hemorrhage, Epidural he... ORPHA:465
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
Syndromic Diarrhea
Thrombocytosis, Lymphopenia, Panhypogammaglobulinemia, Increased mean platelet volume, Colitis, H... ORPHA:84064
Felty Syndrome
Recurrent pneumonia, Pericarditis, Abnormal lymphocyte morphology, Chronic otitis media, Neutrope... ORPHA:47612
Specific Granule Deficiency 1
Recurrent bacterial infections OMIM:245480
Immune Deficiency Disease
Recurrent viral infections, Recurrent bacterial infections OMIM:242850
Aregenerative Anemia
Erythroid hypoplasia, Abnormal bleeding, Decreased proportion of CD4-positive helper T cells, Bru... ORPHA:101096
Relapsing Fever
Abnormal bleeding, Leukocytosis, Epistaxis, Thrombocytopenia, Anemia, Leukopenia, Neutrophilia, P... ORPHA:91547
Immunodeficiency 36
Autoimmunity, Recurrent respiratory infections, Recurrent bacterial infections OMIM:616005
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Autoimmune thrombocytopenia, Recurrent bacterial infections OMIM:613496
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Juvenile Polyposis Syndrome
Multiple gastric polyps, Abdominal pain, Intussusception, Hematochezia, Rectal prolapse, Diarrhea... OMIM:174900
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Skin rash, Autoimmune hemolytic anemia, Decreased circulating antibody level, Decreased proportio... ORPHA:331206
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Rhabdoid Tumor
Thrombocytopenia, Internal hemorrhage, Anemia ORPHA:69077
Folate Malabsorption, Hereditary
Thrombocytopenia, Folate-responsive megaloblastic anemia, Neutropenia, Leukopenia OMIM:229050
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Thrombocytopenia, Splenomegaly, Pancreatitis, Anemia ORPHA:79312
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Anemia ORPHA:2123
Gamma-Heavy Chain Disease
Skin rash, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morpholo... ORPHA:100026
Letterer-Siwe Disease
Seborrheic dermatitis, Neutropenia, Stomatitis, Thrombocytopenia, Anemia, Hepatosplenomegaly OMIM:246400
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Thrombocytopenia OMIM:254900
Transaldolase Deficiency
Thrombocytopenia, Hepatosplenomegaly, Anemia ORPHA:101028
Noonan Syndrome 12
Thrombocytopenia, Lymphopenia, Atopic dermatitis OMIM:618624
Primary Familial Polycythemia
Abnormal bleeding, Polycythemia, Abnormal hemoglobin, Epistaxis ORPHA:90042
Aicardi-Goutieres Syndrome 4
Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly OMIM:610333
Lathosterolosis
Increased mean platelet volume, Anisopoikilocytosis, Acanthocytosis, Hepatosplenomegaly, Schistoc... OMIM:607330
Immunodeficiency 10
Autoimmune hemolytic anemia, Recurrent infections, Recurrent bacterial infections OMIM:612783
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia OMIM:614727
Refractory Anemia With Excess Blasts
Abnormal bleeding, Leukocytosis, Thrombocytopenia, Acute myeloid leukemia, Retinal hemorrhage, An... ORPHA:86839
Congenital Bile Acid Synthesis Defect Type 1
Abnormal bleeding, Malabsorption, Gastrointestinal hemorrhage ORPHA:79301
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Splenomegaly OMIM:231000
Purine Nucleoside Phosphorylase Deficiency
Recurrent opportunistic infections, Autoimmune thrombocytopenia, Recurrent upper respiratory trac... OMIM:613179
Chronic Intestinal Pseudoobstruction
Abnormal platelet morphology ORPHA:2978
Boutonneuse Fever
Skin rash, Increased circulating IgM level, Maculopapular exanthema, Thrombocytopenia, Petechiae,... ORPHA:83313
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Skin rash, Purpura, Decreased circulating antibody level, Erythroderma, Neutrop... ORPHA:540
Cyclic Neutropenia
Peritonitis, Decreased eosinophil count, Lymphopenia, Periodontitis, Thrombocytopenia, Sinusitis,... ORPHA:2686
Babesiosis
Thrombocytopenia, Hemolytic anemia, Leukopenia, Splenomegaly ORPHA:108
Gastrointestinal Defects And Immunodeficiency Syndrome
Intestinal malrotation, Intestinal atresia, Hematochezia OMIM:243150
Lig4 Syndrome
Thrombocytopenia, Psoriasiform dermatitis, Pancytopenia OMIM:606593
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Thrombocytopenia ORPHA:49827
Congenital Bile Acid Synthesis Defect Type 3
Hepatic failure, Gastrointestinal hemorrhage ORPHA:79302
Wild Type Abeta2M Amyloidosis
Arrhythmia, Gastrointestinal hemorrhage, Dysphagia, Intestinal pseudo-obstruction, Congestive hea... ORPHA:85446
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Recurrent infections, Recurrent fungal infections, Recurrent bacte... ORPHA:2688
Complement Factor I Deficiency
Recurrent Haemophilus influenzae infections, Recurrent otitis media, Recurrent sinusitis, Recurre... OMIM:610984
Congenital Toxoplasmosis
Thrombocytopenia, Anemia ORPHA:858
Congenital Enterovirus Infection
Skin rash, Abnormal bleeding, Leukocytosis, Abnormal macrophage morphology, Neutropenia, Thromboc... ORPHA:292
Proteasome-Associated Autoinflammatory Syndrome 3
Skin rash, Increased circulating antibody level, Lymphopenia, Panniculitis, Thrombocytopenia, Sin... OMIM:617591
Trichohepatoenteric Syndrome 1
Thrombocytosis, Increased mean platelet volume OMIM:222470
Prolidase Deficiency
Recurrent pneumonia, Increased circulating antibody level, Thrombocytopenia, Crusting erythematou... OMIM:170100
Congenital Rubella Syndrome
Thrombocytopenia, Skin rash, Anemia, Splenomegaly ORPHA:290
Whim Syndrome 1
Recurrent bacterial infections, Recurrent upper respiratory tract infections OMIM:193670
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Purpura, Congenital thrombocytopenia, Petechiae, Aplastic anemia, Amegakaryocytic thrombocytopenia OMIM:605432
Thrombocythemia 3
Thrombocytosis OMIM:614521
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Thrombocytopenia, Tubulointerstitial nephritis, Pancreatitis, Leukopenia OMIM:251000
Pseudo-Torch Syndrome 3
Leukocytosis, Lymphadenitis, Congenital thrombocytopenia, Cerebral hemorrhage, Anemia OMIM:618886
Immunodeficiency 27B
Recurrent mycobacterial infections OMIM:615978
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Gastrointestinal hemorrhage, Leukocytosis, Neutropenia,... ORPHA:98850
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent herpes, Recurrent Haemophilus influenzae infections, Recurrent opportunistic infections... ORPHA:276
Hereditary Folate Malabsorption
Megaloblastic anemia, Decreased circulating antibody level, Cheilitis, Pancytopenia, Thrombocytop... ORPHA:90045
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
Immunodeficiency 59 And Hypoglycemia
Hypochromic anemia, Arteritis, Leukocytosis, Decreased circulating antibody level, Stomatitis, Th... OMIM:233600
Autoimmune Lymphoproliferative Syndrome, Type Iii
Persistent EBV viremia, Recurrent upper respiratory tract infections, Anticardiolipin IgG antibod... OMIM:615559
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Thrombocytopenia, Thiamine-responsive megaloblastic anemia OMIM:249270
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Good Syndrome
Bronchiectasis, Decreased circulating antibody level, Thrombocytopenia, Anemia, Sinusitis, Abnorm... ORPHA:169105
Holocarboxylase Synthetase Deficiency
Thrombocytopenia, Eczema, Perioral eczema, Keratoconjunctivitis ORPHA:79242
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections OMIM:616873
Preeclampsia
Thrombocytopenia ORPHA:275555
Burkitt Lymphoma
Nausea and vomiting, Intestinal obstruction, Gastrointestinal hemorrhage, Abdominal pain ORPHA:543
Wilson Disease
Acute hepatitis, Thrombocytopenia, Hepatitis, Anemia, Splenomegaly, Bruising susceptibility, Arth... ORPHA:905
Typhoid
Arrhythmia, Gastrointestinal hemorrhage, Abdominal pain, Constipation, Epistaxis, Diarrhea, Cardi... ORPHA:99745
Diffuse Cutaneous Mastocytosis
Hypotension, Malabsorption, Gastrointestinal hemorrhage, Cutaneous mastocytosis ORPHA:79456
Immunodeficiency 67
Recurrent streptococcal infections, Recurrent staphylococcal infections OMIM:607676
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Pericarditis, Anemia, Splenomegaly ORPHA:163596
Pemphigus Vulgaris
Recurrent cutaneous abscess formation, Recurrent infections, Autoimmunity ORPHA:704
Stt3B-Cdg
Thrombocytopenia ORPHA:370924
Immunodeficiency 31C
Autoimmune hemolytic anemia, Recurrent respiratory infections, Chronic mucocutaneous candidiasis,... OMIM:614162
Fetal Gaucher Disease
Intracranial hemorrhage, Pancytopenia, Thrombocytopenia, Splenomegaly, Abnormality of the spleen ORPHA:85212
Zika Virus Disease
Skin rash, Increased circulating IgM level, Myelitis, Maculopapular exanthema, Thrombocytopenia, ... ORPHA:448237
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Thrombocytopenia, Hashimoto thyroiditis, Leukocytosis ORPHA:83601
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Skin rash, Pancytopenia, Thrombocytopenia, Splenomegaly, Encephalitis, Anemia, ... OMIM:603553
Desmoid Tumor
Gastrointestinal hemorrhage, Abdominal pain, Desmoid tumors, Intestinal polyposis, Malabsorption,... ORPHA:873
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Spontaneous, recurrent epistaxis, Impaired neutrophil ... OMIM:214500
Propionic Acidemia
Neutropenia, Cerebellar hemorrhage, Pancytopenia, Thrombocytopenia, Anemia, Pancreatitis, Eczema OMIM:606054
Epilepsy, Hearing Loss, And Mental Retardation Syndrome
Thrombocytopenia OMIM:616577
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612926
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections OMIM:606843
Autosomal Dominant Severe Congenital Neutropenia
Antineutrophil antibody positivity, Recurrent viral infections, Recurrent sinopulmonary infection... ORPHA:486
Immunodeficiency 47
Recurrent bacterial infections OMIM:300972
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Sepsis, Neutropenia in presence of anti-neutropil antibodies, Autoim... ORPHA:231154
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Portal hypertension, Retinal telangiectasia, Esophageal varix, Gastrointestinal hemorrhage OMIM:617341
Snakebite Envenomation
Abnormal bleeding, Intracranial hemorrhage, Epistaxis, Thrombocytopenia, Gingival bleeding, Ecchy... ORPHA:449285
Eosinophilopenia
Autoimmunity OMIM:131430
Hyperimmunoglobulinemia D With Periodic Fever
Peritonitis, Gastrointestinal hemorrhage, Purpura, Abdominal pain, Diarrhea, Increased circulatin... ORPHA:343
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thrombocytopenia, Increased mean platelet volume ORPHA:487796
Griscelli Syndrome
Abnormality of neutrophils, Decreased circulating antibody level, Thrombocytopenia, Hepatitis, Le... ORPHA:381
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent fungal infections, Recurrent Staphylococcus aureus infections, Recurrent sinopulmonary ... OMIM:147060
Hellp Syndrome
Microangiopathic hemolytic anemia, Hemolytic anemia, Decreased mean corpuscular hemoglobin concen... ORPHA:244242
Osteopetrosis With Renal Tubular Acidosis
Thrombocytopenia, Anemia, Splenomegaly ORPHA:2785
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Thrombocytopenia, Hypochromic microcytic anemia, Atopic dermatitis ORPHA:3240
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Thrombocytopenia, Splenomegaly, Encephalitis, Anemia, Leukopenia, Prolonged pro... OMIM:267700
Atrial Septal Defect, Ostium Secundum Type
Atrial flutter, Abnormal left ventricular function, Tricuspid regurgitation, Pulmonary arterial h... ORPHA:99103
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Thrombocytopenia, Hepatosplenomegaly, Bone marrow hypocellularity ORPHA:210136
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent otitis media, Recurrent urinary tract infections, Pyoderma, Meningitis, Encephalitis, E... OMIM:307200
Shwachman-Diamond Syndrome 2
Thrombocytopenia, Neutropenia, Prolonged prothrombin time, Normocytic anemia OMIM:617941
Cog8-Cdg
Spontaneous hematomas, Prolonged prothrombin time, Protein-losing enteropathy ORPHA:95428
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Immunodeficiency 21
Recurrent viral infections, Recurrent mycobacterium avium complex infections, Recurrent fungal in... OMIM:614172
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Thrombocytopenia, Neutropenia, Anemia OMIM:614857
Kasabach-Merritt Syndrome
Microangiopathic hemolytic anemia, Purpura, Reticulocytosis, Neutropenia, Thrombocytopenia, Petec... ORPHA:2330
Lassa Fever
Skin rash, Gastrointestinal hemorrhage, Thrombocytopenia, Conjunctivitis, Leukopenia ORPHA:99824
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Skin rash, Megaloblastic anemia, Neutropenia, Stomatitis, Pancytopenia, Thrombocytopenia OMIM:277380
Gaucher Disease, Type I
Epistaxis, Pancytopenia, Thrombocytopenia, Splenomegaly, Hypersplenism, Anemia OMIM:230800
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia OMIM:615597
Congenital Disorder Of Glycosylation, Type Ih
Thrombocytopenia, Anemia OMIM:608104
Rift Valley Fever
Gastrointestinal hemorrhage, Purpura, Anorexia, Diarrhea, Cardiac arrest, Hepatic failure, Nausea... ORPHA:319251
Noonan Syndrome 9
Pulmonic stenosis, Prolonged prothrombin time OMIM:616559
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Neoplasm of the gastrointestinal tract, Gastrointestinal hemorrhag... ORPHA:44890
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Pulmonary hemorrhage, Decreased proportion of memory B cells, Panhypogammaglob... ORPHA:79124
Pseudo-Torch Syndrome 2
Thrombocytopenia, Petechiae, Cerebral hemorrhage OMIM:617397
Bacterial Toxic-Shock Syndrome
Peritonitis, Skin rash, Increased circulating metamyelocyte count, Pneumonia, Septic arthritis, T... ORPHA:36234
Gaucher Disease Type 1
Increased circulating antibody level, Bruising susceptibility, Pancytopenia, Thrombocytopenia, Sp... ORPHA:77259
Extracranial Carotid Artery Aneurysm
Arteritis, Autoimmunity, Subarachnoid hemorrhage, Hypertension, Extrapulmonary tuberculosis, Seve... ORPHA:494424
Immunodeficiency 22
Autoimmunity, Recurrent respiratory infections OMIM:615758
Polycythemia Vera
Gastrointestinal hemorrhage, Intermittent claudication, Angina pectoris, Abdominal pain, Budd-Chi... ORPHA:729
Carney-Stratakis Syndrome
Gastrointestinal stroma tumor, Gastrointestinal hemorrhage, Abdominal pain, Dysphagia, Intestinal... ORPHA:97286
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Cerebellar hemorrhage, Sudden cardiac death, Thrombocytopenia, Congestive ... ORPHA:99901
Blue Rubber Bleb Nevus
Iron deficiency anemia, Thrombocytopenia, Intestinal bleeding OMIM:112200
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Thrombocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia OMIM:614520
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Thrombocytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellularity OMIM:613989
Polymyositis
Arrhythmia, Pericarditis, Gastrointestinal hemorrhage, Abdominal pain, Constipation, Gastroesopha... ORPHA:732
Zollinger-Ellison Syndrome
Esophagitis, Gastrointestinal hemorrhage, Hematochezia, Zollinger-Ellison syndrome, Nausea, Pepti... ORPHA:913
Ras-Associated Autoimmune Leukoproliferative Disorder
Autoimmunity, Recurrent infections, Recurrent respiratory infections, Autoimmune thrombocytopenia OMIM:614470
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Gastrointestinal hemorrhage, Abdominal pain, Gastrointestinal infarctions... ORPHA:2869
Pediatric Systemic Lupus Erythematosus
Skin rash, Microangiopathic hemolytic anemia, Lymphopenia, Thrombocytopenia, Discoid lupus rash, ... ORPHA:93552
Classical-Like Ehlers-Danlos Syndrome Type 1
Arrhythmia, Bruising susceptibility, Gastrointestinal hemorrhage ORPHA:230839
Congenital Disorder Of Glycosylation, Type Iig
Thrombocytopenia, Anemia OMIM:611209
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Purpura, Reticulocytosis, Thrombocytopenia, Schistocytosis OMIM:235400
Noonan Syndrome
Abnormal bleeding, Feeding difficulties in infancy, Arrhythmia, Abnormal platelet function ORPHA:648
Juvenile Polyposis Syndrome
Abnormal onset of bleeding, Hamartomatous stomach polyps, Diarrhea, Juvenile gastrointestinal pol... ORPHA:2929
Atrial Septal Defect, Coronary Sinus Type
Palpitations, Arrhythmia, Bundle branch block, Right ventricular failure, Supraventricular arrhyt... ORPHA:99104
Leukocyte Adhesion Deficiency, Type Iii
Sepsis, Epistaxis, Recurrent bacterial infections OMIM:612840
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Thrombocytopenia, Anemia, Splenomegaly, Osteomyelitis OMIM:259700
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Recurrent Serratia ... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Recurrent Serratia ... OMIM:233710
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Abnormal bleeding, Decreased specific anti-polysaccharide an... OMIM:614576
Nephropathy With Pretibial Epidermolysis Bullosa And Deafness
Reduced beta/alpha synthesis ratio, Nephritis OMIM:609057
Beemer-Ertbruggen Syndrome
Thrombocytopenia ORPHA:1237
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Panniculitis, Neutropenia, Reticulocytopenia, Thrombocytopenia, B lymphocytopenia, A... ORPHA:508542
Aicardi-Goutieres Syndrome 1
Purpura, Chilblains, Thrombocytopenia, Petechiae, Splenomegaly, Hepatosplenomegaly OMIM:225750
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Lymphopenia, Neutropenia, Hypoplasia of the thymus, Thrombocyt... OMIM:612541
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Thrombocytopenia, Anemia, Leukopenia OMIM:613845
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Anemia, Splenomegaly, Decreased ost... OMIM:259720
Dyskeratosis Congenita, Autosomal Dominant 1
Interstitial pneumonitis, Lymphopenia, Thrombocytopenia, Aplastic anemia, Anemia, Bone marrow hyp... OMIM:127550
Wolfram Syndrome 1
Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia OMIM:222300
Immunodeficiency 23
Recurrent staphylococcal infections, Recurrent Staphylococcus aureus infections, Persistent EBV v... OMIM:615816
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity