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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:
6820430P06Rik,  B130011O06Rik

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by 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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Von Willebrand Disease, Type 3
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha... OMIM:277480
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... OMIM:193400
Von Willebrand Disease, Type 2
Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia OMIM:613554

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, Prolonged bleeding time, Abnormal bleeding, Impaired platelet adhe... OMIM:209050
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Thrombocytopenia 7
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Pos... OMIM:619130
Bleeding Disorder, Platelet-Type, 24
Abnormal bleeding, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platele... OMIM:619271
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Anemia, Abnormal platelet function, Thrombo... ORPHA:231393
Glanzmann Thrombasthenia 2
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, ... OMIM:619267
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Prolonged bleeding time, Giant platelets, Thrombocytopenia OMIM:608404
Bleeding Disorder, Platelet-Type, 16
Abnormal bleeding, Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosi... OMIM:187800
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis... OMIM:615888
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggregation, Thromb... OMIM:124900
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation, Subcutaneous hemorrhage, Excessive bleeding from superficial cuts OMIM:618462
Platelet Signal Processing Defect
Abnormal bleeding, Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induce... OMIM:173590
Bernard-Soulier Syndrome
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble... OMIM:231200
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Impaired epinephrine-induced platelet aggre... OMIM:273800
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Prolonged bleeding time, Leukocyte inclusion bodies, Epistaxis, Impaired ADP-i... OMIM:155100
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Epistaxis, Abnormal platelet count, Menorrhagia, Impaired collagen-induc... OMIM:614201
Bleeding Disorder, Platelet-Type, 21
Abnormal bleeding, Psoriasiform dermatitis, Eczema, Increased mean platelet volume, Impaired ADP-... OMIM:617443
Glanzmann Thrombasthenia
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Purpura, ... ORPHA:849
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Thrombocytopenia With Beta-Thalassemia, X-Linked
Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epi... OMIM:314050
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time, Ecchymosis, Bruising susceptibility, Epistaxis OMIM:614158
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
Platelet Disorder, Undefined
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Immunodeficiency, Common Variable, 5
Antinuclear antibody positivity, Recurrent respiratory infections, Recurrent bacterial infections OMIM:613495
Slc35A1-Cdg
Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage, Pneumonia, Giant platelets, ... ORPHA:238459
Bleeding Disorder, Platelet-Type, 8
Abnormal bleeding, Epistaxis, Prolonged bleeding after surgery, Impaired ADP-induced platelet agg... OMIM:609821
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d... OMIM:137560
Factor V Deficiency
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B... OMIM:227400
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Petechiae, Epistaxis, Increased mean platelet volume, Splenomegaly, Thrombocyto... OMIM:153670
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Platelet anisocytosis, Epistaxis, Increased mean platelet volume OMIM:615193
Von Willebrand Disease, Type 3
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha... OMIM:277480
Immune Thrombocytopenia
Abnormal bleeding, Thrombocytopenia OMIM:188030
Immunodeficiency 34
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Myh9-Related Disease
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Increased mean platelet volume, Giant ... ORPHA:182050
Prothrombin Deficiency, Congenital
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... OMIM:613679
Bleeding Disorder, Platelet-Type, 17
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Increased RBC distributi... OMIM:187900
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation, Ecchymosis, Bruising susceptibility... OMIM:614009
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Prolonged bleeding time, Epistaxis, Acute monocytic leukemia, Bruising su... OMIM:601399
Gray Platelet Syndrome
Abnormal bleeding, Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epist... OMIM:139090
Von Willebrand Disease
Abnormality of thrombocytes, Abnormal platelet function ORPHA:903
Hermansky-Pudlak Syndrome 9
Recurrent skin infections, Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Melena, Fundic gland polyposis, Gastric adenocarcinoma, Abdominal pain OMIM:619182
Thrombocytopenia 2
Leukocytosis, Bruising susceptibility, Thrombocytopenia OMIM:188000
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Prolonged bleeding time, Pyloric stenosis, Thrombocytopenia OMIM:188025
Quebec Platelet Disorder
Epistaxis, Menorrhagia, Bruising susceptibility, Joint hemorrhage, Thrombocytopenia, Impaired epi... OMIM:601709
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... OMIM:614372
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... OMIM:193400
Fetal And Neonatal Alloimmune Thrombocytopenia
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Neonatal alloimmune thro... ORPHA:853
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Bleeding Disorder, Platelet-Type, 12
Epistaxis, Intestinal bleeding, Menorrhagia, Impaired platelet aggregation, Bruising susceptibili... OMIM:605735
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Bleeding Disorder, Platelet-Type, 9
Bruising susceptibility, Thrombocytopenia OMIM:614200
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections OMIM:308220
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Hermansky-Pudlak Syndrome 7
Prolonged bleeding time, Epistaxis, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggreg... OMIM:614076
Acquired Von Willebrand Syndrome
Gastrointestinal hemorrhage, Aortic regurgitation, Epistaxis, Gastrointestinal angiodysplasia, In... ORPHA:99147
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Hemophilia B
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... ORPHA:98879
Hermansky-Pudlak Syndrome 3
Abnormal bleeding, Spontaneous, recurrent epistaxis, Gingival bleeding, Bruising susceptibility, ... OMIM:614072
Bernard-Soulier Syndrome
Abnormal bleeding, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Impaired ristoc... ORPHA:274
Storage Pool Platelet Disease
Abnormal bleeding, Prolonged bleeding time, Decreased mean platelet volume, Acute leukemia OMIM:185050
Blue Rubber Bleb Nevus
Prolonged bleeding time, Intestinal bleeding, Volvulus, Gastrointestinal infarctions ORPHA:1059
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Bleeding Disorder, Platelet-Type, 19
Abnormal bleeding, Epistaxis, Thrombocytopenia, Macrothrombocytopenia, Spontaneous hematomas, Men... OMIM:616176
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Abnormally low T cell receptor excision circle leve... OMIM:619374
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... ORPHA:70592
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Complement Component 8 Deficiency, Type I
Meningitis, Systemic lupus erythematosus OMIM:613790
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Sitosterolemia 1
Abnormal bleeding, Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, S... OMIM:210250
Neuroendocrine Tumor Of The Rectum
Tricuspid regurgitation, Anorexia, Right ventricular failure, Bowel urgency, Abdominal pain, Lack... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Tricuspid regurgitation, Anorexia, Right ventricular failure, Bowel urgency, Abdominal pain, Lack... ORPHA:100082
Hermansky-Pudlak Syndrome 5
Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Impaired ADP-induced platelet... OMIM:614074
Autoimmune Disease
Autoimmune antibody positivity, Autoimmunity OMIM:109100
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Congenital Factor V Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:326
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Recurrent candida infections OMIM:242870
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time, Hypertrophic cardiomyopathy, Pulmonic stenosis, Dysphagia ORPHA:638
Neuroendocrine Tumor Of The Colon
Tricuspid regurgitation, Anorexia, Right ventricular failure, Bowel urgency, Abdominal pain, Lack... ORPHA:100080
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... OMIM:614892
Familial Hypofibrinogenemia
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Gingival bleeding ORPHA:101041
Familial Dysfibrinogenemia
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Gingival bleeding ORPHA:98881
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent tonsillitis, Recurrent pneumonia, Systemic lupus erythe... OMIM:613779
Immunodeficiency 31B
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
Pemphigus Vulgaris, Familial
Autoimmune antibody positivity, Autoimmunity OMIM:169610
Immunodeficiency 35
Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections... OMIM:611521
Amegakaryocytic Thrombocytopenia, Congenital, 1
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia OMIM:604498
Gray Platelet Syndrome
Abnormal bleeding, Epistaxis, Abnormality of thrombocytes, Splenomegaly, Bruising susceptibility,... ORPHA:721
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Hermansky-Pudlak Syndrome 6
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation,... OMIM:614075
Ebola Hemorrhagic Fever
Abnormal bleeding, Gastrointestinal hemorrhage, Poor appetite, Abdominal pain, Diarrhea, Melena, ... ORPHA:319218
C1Q Deficiency 1
Recurrent infections, Autoimmunity, Systemic lupus erythematosus OMIM:613652
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Ficolin 3 Deficiency
Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre... OMIM:613860
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections OMIM:616022
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Congenital Factor Ii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... ORPHA:325
Neuroendocrine Tumor Of Stomach
Nausea and vomiting, Tricuspid regurgitation, Anorexia, Right ventricular failure, Hematemesis, P... ORPHA:100075
Factor Vii And Factor Viii, Combined Deficiency Of
Intestinal bleeding OMIM:134430
Bleeding Disorder, Platelet-Type, 20
Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia OMIM:613554
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Factor X Deficiency
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... OMIM:227600
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Intes... ORPHA:464321
Essential Thrombocythemia
Prolonged bleeding time, Transient ischemic attack, Abnormality of thrombocytes, Myocardial infar... ORPHA:3318
Wiskott-Aldrich Syndrome 2
Eczema, Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Defec... OMIM:614493
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia, Purpura ORPHA:529
Plasma Clot Retraction Factor, Deficiency Of
Gastrointestinal hemorrhage, Bruising susceptibility OMIM:262800
Alpha-Thalassemia-Myelodysplastic Syndrome
Abnormal bleeding, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, Bruising suscept... ORPHA:231401
Wiskott-Aldrich Syndrome
Abnormal delayed hypersensitivity skin test, Large vessel vasculitis, Inflammation of the large i... OMIM:301000
Refractory Anemia
Abnormal bleeding, Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythro... ORPHA:98826
Thrombocytopenia 1
Epistaxis, Eczema, Increased circulating IgA level, Increased circulating IgE level, Decreased me... OMIM:313900
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Abnormal bleeding, Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level OMIM:314000
Deafness-Lymphedema-Leukemia Syndrome
Prolonged bleeding time, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, I... ORPHA:3226
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Inflammatory Bowel Disease 11
Hematochezia, Diarrhea, Inflammation of the large intestine, Abdominal pain OMIM:191390
Hermansky-Pudlak Syndrome 11
Epistaxis, Reduced platelet dense granules, Menorrhagia, Gingival bleeding, Impaired collagen-ind... OMIM:619172
Acute Myelomonocytic Leukemia
Abnormal bleeding, Eosinophilia, Leukocytosis, Anemia, Thrombocytopenia ORPHA:517
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:35909
Immunoglobulin A Deficiency 1
Recurrent respiratory infections, Recurrent infection of the gastrointestinal tract, Autoimmunity... OMIM:137100
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia OMIM:133180
Thrombocytopenia 3
Thrombocytopenia, Epistaxis, Petechiae, Decreased mean platelet volume OMIM:273900
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections OMIM:608957
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, BCGosis, Coccidioid... ORPHA:319552
Immunodeficiency 51
Recurrent respiratory infections, Recurrent cutaneous fungal infections, Chronic mucocutaneous ca... OMIM:613953
Congenital Disorder Of Glycosylation, Type Iif
Subcutaneous hemorrhage, Macrothrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, ... OMIM:603585
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Pelger-Huet Anomaly
Eczema, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutr... OMIM:169400
Solitary Rectal Ulcer Syndrome
Abdominal pain, Rectal prolapse, Episodic abdominal pain, Hematochezia, Chronic constipation, Ten... ORPHA:209964
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Subcutaneous hemorrhage ORPHA:1980
Hermansky-Pudlak Syndrome 1
Prolonged bleeding time, Epistaxis, Abdominal pain, Hematochezia, Cardiomyopathy, Inflammation of... OMIM:203300
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Gingival bleeding,... ORPHA:3002
Cap Polyposis
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Constipation, C... ORPHA:160148
Thrombocytopenia 5
Petechiae, Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscula... OMIM:616216
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:615715
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Pulmonary embolism, Congestive heart failur... ORPHA:90308
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Congenital Dyserythropoietic Anemia Type Iii
Melena, Oral cavity bleeding, Post-partum hemorrhage, Gingival bleeding ORPHA:98870
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Recurrent upper respiratory tract infec... OMIM:608184
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Vascular Hyalinosis
Subarachnoid hemorrhage, Malabsorption, Diarrhea, Hematochezia, Protein-losing enteropathy OMIM:277175
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Bruising susceptibili... OMIM:300367
Immunoglobulin A Deficiency 2
Recurrent sinopulmonary infections, Recurrent infection of the gastrointestinal tract, Autoimmunity OMIM:609529
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Intracranial hemorrhage, Inflammati... ORPHA:906
Hermansky-Pudlak Syndrome 2
Prolonged bleeding time, Absent platelet dense granules, Chronic oral candidiasis, Reduced natura... OMIM:608233
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding OMIM:600195
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Thrombocytosis, Epistaxis, Impaired platelet adhesion, Autoimmune th... ORPHA:324636
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Autoimmunity, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportuni... ORPHA:275
Systemic Lupus Erythematosus 16
Antinuclear antibody positivity, Perinuclear antineutrophil antibody positivity, Anti-dsDNA antib... OMIM:614420
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Acquired Idiopathic Sideroblastic Anemia
Abnormal bleeding, Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate ... ORPHA:75564
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Nausea and vomiting, Poor appetite, Abnormal large intestine morphol... ORPHA:2198
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Acute hepatic failure, Melena, Paralytic ileus, Prolonged prothrombi... OMIM:276700
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Immunodeficiency, Common Variable, 4
Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis OMIM:613494
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a... OMIM:615285
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Immunodeficiency 46
Intermittent thrombocytopenia, Neutropenia, Decreased circulating antibody level, Conjunctivitis,... OMIM:616740
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Anemia, Neutropenia OMIM:614082
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Anorexia, Abnormal left ventricular function, Increased circulating IgG leve... ORPHA:99827
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Juvenile Polyposis Of Infancy
Abnormal bleeding, Gastrointestinal hemorrhage, Abdominal pain, Rectal prolapse, Adenomatous colo... ORPHA:79076
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Congenital Factor Xi Deficiency
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Joint hemorrhage, Menorrhagia, Prolong... ORPHA:329
Aicardi-Goutieres Syndrome 3
Chilblains, Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Prolonged prothrombin time, Hepatic failure, Fat malabsorption OMIM:214950
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Hemorrhagic Fever-Renal Syndrome
Shock, Tachycardia, Epistaxis, Nausea, Abdominal pain, Hematemesis, Thrombocytopenia, Diarrhea, C... ORPHA:340
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Iron deficiency anemia, Impaired platelet aggregation OMIM:618372
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Abnormal bleeding, Prolonged prothrombin time, Epistaxis OMIM:610842
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent viral infections, Recurrent upper respiratory tract infect... OMIM:614868
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Colitis, Enterocolitis, Crohn's disease OMIM:613148
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent ... OMIM:613500
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, ... OMIM:616576
Angioma, Hereditary Neurocutaneous
Gastrointestinal hemorrhage OMIM:106070
Hemophagocytic Lymphohistiocytosis, Familial, 4
Skin rash, Splenomegaly, Anemia, Conjunctivitis, Hemophagocytosis, Neutropenia, Thrombocytopenia OMIM:603552
Rift Valley Fever
Abnormal bleeding, Anorexia, Hematemesis, Retinal hemorrhage, Melena, Increased circulating IgG l... ORPHA:319251
Cernunnos-Xlf Deficiency
Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ... ORPHA:169079
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Decreased circulating antibody level, Abnorma... OMIM:613101
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Anterior uveitis, Skin rash, Colitis, Lymphopenia, Thrombocytopenia OMIM:616744
Bone Marrow Failure Syndrome 4
Eczema, Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Th... OMIM:618116
Aicardi-Goutieres Syndrome 6
Splenomegaly, Hemolytic anemia, Chilblains, Thrombocytopenia OMIM:615010
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Systemic Lupus Erythematosus 17
Autoimmune thrombocytopenia, Thrombocytopenia, Malar rash, Leukopenia, Optic neuritis, Lymphopeni... OMIM:301080
Immunodeficiency With Hyper-Igm, Type 2
Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections, Recurre... OMIM:605258
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Systemic Lupus Erythematosus
Hemolytic anemia, Pericarditis, Lupus nephritis, Leukopenia, Arthritis, Malar rash, Nephritis, Th... OMIM:152700
Hashimoto Thyroiditis
Autoimmune antibody positivity, Hashimoto thyroiditis OMIM:140300
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Malaria
Anemia, Thrombocytopenia ORPHA:673
Dentinogenesis Imperfecta
Prolonged bleeding time, Bruising susceptibility ORPHA:49042
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Acquired Purpura Fulminans
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Hepatic failure, Int... ORPHA:49566
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Nephrotic Syndrome, Type 7
Hemolytic anemia, Membranoproliferative glomerulonephritis, Thrombocytopenia OMIM:615008
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Abnormality of neutrophil... ORPHA:229717
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Immunodeficiency, Common Variable, 2
Autoimmunity, Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusitis, Recurrent... OMIM:240500
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
Wolfram Syndrome 2
Abnormal bleeding, Decreased circulating antibody level, Impaired collagen-induced platelet aggre... OMIM:604928
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Complement Factor B Deficiency
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Idiopathic Aplastic Anemia
Pancytopenia, Epistaxis, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Gingival bleedi... ORPHA:88
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:616435
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Prolonged bleeding time, Hemolytic anemia, Myositis, Pericarditis, S... ORPHA:809
Complement Component C1R/C1S Deficiency
Autoimmunity, Recurrent bronchitis OMIM:216950
Immunodeficiency 84
Recurrent bacterial infections, Persistent EBV viremia OMIM:619437
Hemophilia B
Abnormal bleeding, Joint hemorrhage, Gastrointestinal hemorrhage, Persistent bleeding after trauma OMIM:306900
Congenital Fibrinogen Deficiency
Abnormal bleeding, Tachycardia, Abdominal pain, Internal hemorrhage, Prolonged prothrombin time, ... ORPHA:335
Hermansky-Pudlak Syndrome 8
Epistaxis, Excessive bleeding after a venipuncture, Menorrhagia, Gingival bleeding, Excessive ble... OMIM:614077
Thyrocerebrorenal Syndrome
Nephritis, Thrombocytopenia ORPHA:3327
Bile Acid Synthesis Defect, Congenital, 3
Diarrhea, Hematochezia, Prolonged prothrombin time, Steatorrhea, Hepatic failure OMIM:613812
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Recurrent bacterial infec... OMIM:300310
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Recurre... OMIM:613493
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Recurrent bacterial infections, Recurrent lower respiratory tract infecti... OMIM:613501
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Abdominal distention, Diarrhea, Protein-losing enteropathy ORPHA:103910
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Zygomycosis
Gastrointestinal hemorrhage, Pericarditis, Gastritis, Epistaxis, Abdominal pain, Hematemesis, Myo... ORPHA:73263
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... OMIM:600376
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... OMIM:277450
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia OMIM:607616
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Recurrent pneumonia, Decreased mean platelet volume, Hematochezia, Subconjunctival hem... OMIM:617718
Caroli Syndrome
Abnormal bleeding, Cholangiocarcinoma, Portal hypertension, Abdominal pain, Hematemesis, Esophage... ORPHA:480520
Immunodeficiency 32B
Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Splenomegaly, Bronchiectasis, Anemia, Impaired ... OMIM:226990
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio... ORPHA:2924
Turcot Syndrome With Polyposis
Intestinal polyposis, Abdominal pain, Diarrhea, Adenomatous colonic polyposis, Desmoid tumors, He... ORPHA:99818
Agammaglobulinemia 9, Autosomal Recessive
Seborrheic dermatitis, Agammaglobulinemia, Absent circulating B cells, Eczematoid dermatitis, Thr... OMIM:619693
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... OMIM:187300
Hemophilia A
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Spontaneous he... ORPHA:98878
Sea-Blue Histiocytosis
Abnormal bleeding, Petechiae, Splenomegaly, Sea-blue histiocytosis, Blepharitis, Thrombocytopenia ORPHA:158029
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... ORPHA:232
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Systemic lupus erythemato... ORPHA:444463
Mucoepithelial Dysplasia, Hereditary
Melena, Chronic diarrhea, Corneal neovascularization OMIM:158310
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Abdominal pain, Malabsorption, Diarrhea, Dysphagia, He... ORPHA:2070
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Diarrhea... ORPHA:263665
Folate Malabsorption, Hereditary
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:229050
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Re... OMIM:150550
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Thrombocytopenia, Anemia, Splenomegaly OMIM:610539
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Skin rash, Diffuse alveolar hemorrhage, Reduced natural killer cell activity, Splen... OMIM:616050
Thyrocerebroretinal Syndrome
Nephritis, Thrombocytopenia OMIM:274240
Cerebroretinal Microangiopathy With Calcifications And Cysts 3
Gastrointestinal hemorrhage, Feeding difficulties OMIM:620368
Immunodeficiency 33
Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc... OMIM:300636
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent respiratory infections, Autoimmune hemolytic anemia, Recurrent herpes, Autoimmunity, Au... ORPHA:572
Phosphoglycerate Dehydrogenase Deficiency
Thrombocytopenia, Megaloblastic anemia OMIM:601815
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia OMIM:616738
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopen... OMIM:603909
Afibrinogenemia, Congenital
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleeding following circ... OMIM:202400
Leishmaniasis
Abnormal bleeding, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia... ORPHA:507
Immunodeficiency 27B
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections OMIM:615978
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Anemia, Thrombocytopenia ORPHA:848
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Abnormal bleeding, Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous ... ORPHA:329971
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Recurrent infections, Recurrent bacterial infections, Recurrent fu... ORPHA:2688
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Cerebral vasculitis, Recurrent sinopulmonary infections, Subarachnoid hemorrhage, Recurrent viral... OMIM:243700
Wt Limb-Blood Syndrome
Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia OMIM:194350
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:598500
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell activity, Spleno... OMIM:308240
Fanconi Anemia, Complementation Group V
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:617243
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Abnormal ... ORPHA:2968
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Moderate Hemophilia A
Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after den... ORPHA:169805
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Autoimmuni... ORPHA:83471
Osteogenesis Imperfecta, Type Xvi
Prolonged bleeding time, Bruising susceptibility OMIM:616229
Stuve-Wiedemann Syndrome 2
Eczema, Thrombocytopenia OMIM:619751
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Constrictive pericarditis, Gastrointestinal infarctions OMIM:602248
Severe Hemophilia A
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... ORPHA:169802
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Tufted Angioma
Anemia, Thrombocytopenia, Petechiae, Purpura ORPHA:1063
Isovaleric Acidemia
Pancytopenia, Cerebellar hemorrhage, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:243500
Tularemia
Skin rash, Pneumonia, Erythema nodosum, Leukocytosis, Anemia, Conjunctivitis, Increased circulati... ORPHA:3392
Infantile Liver Failure Syndrome 2
Acute hepatic failure, Cardiomyopathy, Prolonged prothrombin time, Vomiting OMIM:616483
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmune thrombocytopenia, Splenomegaly,... OMIM:613011
Chédiak-Higashi Syndrome
Abnormal bleeding, Abnormal leukocyte morphology, Pancytopenia, Recurrent bacterial skin infectio... ORPHA:167
Imerslund-Gräsbeck Syndrome
Abnormal bleeding, Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Megalobla... ORPHA:35858
Selective Igm Deficiency
Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Sepsis,... ORPHA:331235
Griscelli Syndrome, Type 2
Recurrent bacterial infections OMIM:607624
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Increased circulating IgE ... OMIM:304790
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Dengue Fever
Gastrointestinal hemorrhage, Nausea and vomiting, Epistaxis, Cerebral hemorrhage, Abdominal pain,... ORPHA:99828
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Increased mean platelet volume OMIM:616737
Immunodeficiency With Hyper-Igm, Type 5
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections OMIM:608106
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after dental extraction, Epi... ORPHA:465
Congenital Disorder Of Glycosylation, Type Iig
Thrombocytopenia, Giant platelets, Anemia OMIM:611209
Agammaglobulinemia 4, Autosomal Recessive
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia OMIM:613502
Monosomy 13Q34
Hematochezia, Prolonged prothrombin time, Epistaxis, Pulmonic stenosis ORPHA:96168
Primary Myelofibrosis
Abnormal bleeding, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Thrombocytopenia, ... ORPHA:824
Acute Promyelocytic Leukemia
Abnormal bleeding, Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Thrombocytopenia, Leukoc... ORPHA:520
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Petechiae, Splenomegaly, Anemia, Thrombocytopenia OMIM:611490
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Recu... OMIM:618849
Aicardi-Goutieres Syndrome 5
Chilblains, Thrombocytopenia OMIM:612952
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:231095
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... ORPHA:70475
Relapsing Fever
Abnormal bleeding, Neutrophilia, Epistaxis, Thrombocytopenia, Leukocytosis, Leukopenia, Prolonged... ORPHA:91547
Drug-Induced Lupus Erythematosus
Pericarditis, Petechiae, Thrombocytopenia, Malar rash, Serositis, Anemia ORPHA:231111
Bare Lymphocyte Syndrome, Type Ii
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent viral infections, R... OMIM:209920
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Poor appetite, Anorexia, Abdominal pa... ORPHA:2494
Immunodeficiency, Common Variable, 1
Recurrent pneumonia, Neutropenia in presence of anti-neutropil antibodies, Recurrent bacterial in... OMIM:607594
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis, Decrea... OMIM:614700
Dermatosparaxis Ehlers-Danlos Syndrome
Prolonged bleeding time, Gastroesophageal reflux, Esophagitis, Hiatus hernia ORPHA:1901
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia, Rectal atresia, E... OMIM:243150
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Episodic abdominal pain, Hamartom... ORPHA:251992
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Abdominal pain, Malabsorption, Diarrhea, Xerostomia, Hematochezia, Hamartomatous polypo... OMIM:175500
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Recurrent Haemophilus influenzae infections OMIM:300455
Immunodeficiency 98 With Autoinflammation, X-Linked
Chronic oral candidiasis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophago... OMIM:301078
Proteasome-Associated Autoinflammatory Syndrome 2
Recurrent viral infections, Antinuclear antibody positivity, Anti-thyroid peroxidase antibody pos... OMIM:618048
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Anemia OMIM:615085
Noonan Syndrome 12
Lymphopenia, Atopic dermatitis, Thrombocytopenia OMIM:618624
Atelis Syndrome 1
Eczema, Bronchiectasis, Anemia, Leukopenia, Thrombocytopenia OMIM:620184
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Thrombocytopenia, Pancreatitis, Anemia, Neutropenia ORPHA:289916
Mgat2-Cdg
Abnormal bleeding, Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulat... ORPHA:79329
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia ORPHA:67048
Amed Syndrome, Digenic
Acute myeloid leukemia, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:619151
Agammaglobulinemia 6, Autosomal Recessive
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Recurrent bronchitis OMIM:612692
Thrombocytopenia 6
Abnormal bleeding, Spontaneous, recurrent epistaxis, Thrombocytopenia OMIM:616937
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ... ORPHA:47
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Anemia, Leukopenia, Pancreatitis, Thrombocytopenia ORPHA:27
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Recurrent viral infections, Aut... ORPHA:911
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopen... ORPHA:100026
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Combined Immunodeficiency Due To Crac Channel Dysfunction
Autoimmunity, Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Recurrent b... ORPHA:169090
Complement Factor I Deficiency
Recurrent urinary tract infections, Vasculitis, Recurrent Haemophilus influenzae infections, Recu... OMIM:610984
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... OMIM:612690
Vexas Syndrome
Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C... OMIM:301054
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Recurrent bacterial infections, Autoimmune thrombocytopenia OMIM:613496
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Neonatal Lupus Erythematosus
Abnormal bleeding, Hemolytic anemia, Pancytopenia, Aplastic anemia, Maculopapular exanthema, Skin... ORPHA:398124
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Hemolytic anemia, Chronic oral candidiasis, Dysgammaglobulinemia... OMIM:308230
Specific Granule Deficiency 1
Recurrent bacterial infections OMIM:245480
Whim Syndrome 1
Recurrent bacterial infections, Recurrent upper respiratory tract infections OMIM:193670
Hereditary Mixed Polyposis Syndrome
Abnormal bleeding, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposis, D... ORPHA:157794
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia ORPHA:79312
Specific Granule Deficiency 2
Absent neutrophil specific granules, Recurrent pneumonia, Anemia, Neutropenia, Recurrent otitis m... OMIM:617475
Felty Syndrome
Episcleritis, Pericarditis, Sinusitis, Splenomegaly, Recurrent pneumonia, Synovitis, Anemia, Arth... ORPHA:47612
Syndromic Diarrhea
Gastritis, Increased mean platelet volume, Splenomegaly, Colitis, Hypoplasia of the thymus, Throm... ORPHA:84064
Multiple Endocrine Neoplasia Type 1
Duodenal ulcer, Peptic ulcer, Anorexia, Abdominal pain, Shortened QT interval, Hematemesis, Diarr... ORPHA:652
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Autoimmunity, Anti-thyroid peroxidase antibody positivity, Recurrent opportunistic infections, Re... ORPHA:277
Aregenerative Anemia
Abnormal bleeding, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellula... ORPHA:101096
Congenital Bile Acid Synthesis Defect Type 1
Abnormal bleeding, Gastrointestinal hemorrhage, Malabsorption ORPHA:79301
Refractory Anemia With Excess Blasts
Abnormal bleeding, Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal... ORPHA:86839
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Autoimmunity, Invasive fungal infection, Recurrent mycobacterial infections, Severe viral infecti... ORPHA:98813
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Anemia ORPHA:2123
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolyt... ORPHA:331206
Zika Virus Disease
Maculopapular exanthema, Subcutaneous hemorrhage, Skin rash, Arthritis, Increased circulating IgM... ORPHA:448237
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Abdominal pain, Diarrhea, Rectal prolapse, Multiple gastric polyps, Hema... OMIM:174900
Transaldolase Deficiency
Thrombocytopenia, Anemia, Hepatosplenomegaly ORPHA:101028
Portal Hypertension, Noncirrhotic, 2
Petechiae, Epistaxis, Splenomegaly, Ecchymosis, Thrombocytopenia OMIM:619463
Letterer-Siwe Disease
Seborrheic dermatitis, Hepatosplenomegaly, Anemia, Neutropenia, Stomatitis, Thrombocytopenia OMIM:246400
Aicardi-Goutieres Syndrome 4
Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly OMIM:610333
Lathosterolosis
Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hepatospleno... OMIM:607330
Purine Nucleoside Phosphorylase Deficiency
Cerebral vasculitis, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Recurrent v... OMIM:613179
Immunodeficiency 10
Recurrent bacterial infections, Autoimmune hemolytic anemia, Recurrent infections OMIM:612783
Boutonneuse Fever
Skin rash, Maculopapular exanthema, Petechiae, Leukopenia, Increased circulating IgG level, Incre... ORPHA:83313
Rhabdoid Tumor
Thrombocytopenia, Internal hemorrhage, Anemia ORPHA:69077
Complement Component 5 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:609536
Familial Hemophagocytic Lymphohistiocytosis
Maculopapular exanthema, Skin rash, Reduced natural killer cell activity, Thrombocytopenia, Splen... ORPHA:540
Macs Syndrome
Prolonged bleeding time, Bruising susceptibility, Recurrent aphthous stomatitis OMIM:613075
Primary Familial Polycythemia
Abnormal bleeding, Polycythemia, Epistaxis, Abnormal hemoglobin ORPHA:90042
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent respiratory infections, Recurrent herpes, Recurrent urinary tract infections, Autoimmun... ORPHA:183675
Chronic Intestinal Pseudoobstruction
Abnormal platelet morphology ORPHA:2978
Immunodeficiency 22
Pericarditis, Anemia, Decreased circulating total IgM, Panniculitis, Decreased circulating IgE, C... OMIM:615758
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia OMIM:614727
Hepatoportal Sclerosis
Abnormal bleeding, Gastrointestinal hemorrhage, Hypersplenism, Thrombocytopenia, Splenomegaly, Le... ORPHA:64743
Immunodeficiency 40
Recurrent pneumonia, T lymphocytopenia, Interstitial pneumonitis, Reduced antigen-specific T cell... OMIM:616433
Congenital Toxoplasmosis
Thrombocytopenia, Anemia ORPHA:858
Gaucher Disease, Type Iii
Splenomegaly, Pancytopenia, Thrombocytopenia OMIM:231000
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Peritonitis, Enteroco... ORPHA:2686
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Abnormal in... ORPHA:85446
Stormorken Syndrome
Abnormal bleeding, Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Thrombocyto... OMIM:185070
Moyamoya Disease 6 With Or Without Achalasia
Thrombocytopenia OMIM:615750
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Mandibular osteomyelitis, Hepatospleno... OMIM:259710
Trichohepatoenteric Syndrome 1
Splenomegaly, Thrombocytosis, Increased mean platelet volume, Decreased circulating antibody level OMIM:222470
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thrombocytopenia, Megaloblastic anemia ORPHA:49827
Babesiosis
Splenomegaly, Leukopenia, Hemolytic anemia, Thrombocytopenia ORPHA:108
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Pancytopenia, Maculopapular exanthema, Hypersplenism, Thrombocytopen... ORPHA:98850
Prolidase Deficiency
Petechiae, Eczema, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Crusting erythematous der... OMIM:170100
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Anemia, Leukopenia, Prolonged prothrombin time, Microangiopath... ORPHA:2330
Intermediate Osteopetrosis
Thrombocytopenia, Osteomyelitis, Anemia, Hepatosplenomegaly ORPHA:210110
Proteasome-Associated Autoinflammatory Syndrome 3
Myositis, Sinusitis, Skin rash, Splenomegaly, Anemia, Arthritis, Panniculitis, Conjunctivitis, In... OMIM:617591
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia, Petechiae, Purpura OMIM:605432
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Cheilitis, Decreased circulating antibody level... ORPHA:90045
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Recurrent pneumo... OMIM:619644
Typhoid
Gastrointestinal hemorrhage, Epistaxis, Cardiac arrest, Abdominal pain, Diarrhea, Constipation, A... ORPHA:99745
Congenital Enterovirus Infection
Abnormal bleeding, Abnormal macrophage morphology, Skin rash, Thrombocytopenia, Leukocytosis, Myo... ORPHA:292
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections OMIM:616873
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Anemia OMIM:618886
Congenital Rubella Syndrome
Splenomegaly, Thrombocytopenia, Skin rash, Anemia ORPHA:290
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia OMIM:613839
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, Hypoplasia of ... OMIM:603554
Braddock-Carey Syndrome 2
Thrombocytopenia OMIM:619981
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Thrombocytopenia OMIM:249270
Burkitt Lymphoma
Gastrointestinal hemorrhage, Abdominal pain, Intestinal obstruction, Nausea and vomiting ORPHA:543
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections OMIM:606843
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Recurrent herpes, Severe recurrent varicella, Recurrent oppo... ORPHA:276
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... ORPHA:158057
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Skin rash, Reduced natural killer cell activity, Splenomegaly, Hepatosplenomegaly, ... OMIM:603553
Propionic Acidemia
Pancytopenia, Eczema, Cerebellar hemorrhage, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia OMIM:606054
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Recurrent urinary tract infections, Autoimmune hemolytic anemia... OMIM:618495
Macrophage Activation Syndrome
Increased inflammatory response, Splenomegaly, Hepatitis, Anemia, Hemophagocytosis, Neutropenia, ... ORPHA:158061
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Hb Bart'S Hydrops Fetalis
Splenomegaly, Pericarditis, Abnormal hemoglobin, Anemia ORPHA:163596
Autosomal Dominant Severe Congenital Neutropenia
Recurrent sinopulmonary infections, Recurrent ear infections, Recurrent viral infections, Recurre... ORPHA:486
Immunodeficiency 7
Recurrent respiratory infections, Autoimmune hemolytic anemia, Autoimmunity, Severe varicella zos... OMIM:615387
Immunodeficiency 36 With Lymphoproliferation
Persistent CMV viremia, Autoimmunity, Recurrent upper respiratory tract infections, Persistent EB... OMIM:616005
Pemphigus Vulgaris
Recurrent cutaneous abscess formation, Autoimmunity, Recurrent infections ORPHA:704
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Gastrointestinal hemorrhage, Portal hypertension, Retinal telangiectasia, Esophageal varix, Bone ... OMIM:617341
Preeclampsia
Thrombocytopenia ORPHA:275555
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thrombocytopenia, Increased mean platelet volume ORPHA:487796
Holocarboxylase Synthetase Deficiency
Perioral eczema, Eczema, Thrombocytopenia, Keratoconjunctivitis ORPHA:79242
Immunodeficiency 67
Recurrent streptococcal infections, Recurrent staphylococcal infections OMIM:607676
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er... OMIM:617021
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Stt3B-Cdg
Thrombocytopenia ORPHA:370924
Desmoid Tumor
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Abdomin... ORPHA:873
Hemophagocytic Lymphohistiocytosis, Familial, 1
Splenomegaly, Anemia, Leukopenia, Prolonged prothrombin time, Hemophagocytosis, Infectious enceph... OMIM:267700
Fetal Gaucher Disease
Pancytopenia, Abnormality of the spleen, Splenomegaly, Intracranial hemorrhage, Thrombocytopenia ORPHA:85212
Good Syndrome
Abnormal leukocyte morphology, Sinusitis, Recurrent skin infections, Bronchiectasis, Decreased ci... ORPHA:169105
Cog8-Cdg
Spontaneous hematomas, Prolonged prothrombin time, Protein-losing enteropathy ORPHA:95428
Acute Radiation Syndrome
Abnormal bleeding, Inflammatory abnormality of the skin, Interstitial pneumonitis, Granulocytopen... ORPHA:454831
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:613987
Wilson Disease
Splenomegaly, Hepatitis, Anemia, Arthritis, Acute hepatitis, Bruising susceptibility, Thrombocyto... ORPHA:905
Hellp Syndrome
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Cerebral hemorrhage, Prolo... ORPHA:244242
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Leukopenia, Tubulointerstitial nephritis, Neutropenia, Pancreatitis, Throm... OMIM:251000
Snakebite Envenomation
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Gingival bleeding, Ecchymosis, Thrombocyto... ORPHA:449285
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia OMIM:615597
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Increased circulating IgA le... ORPHA:343
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612924
Noonan Syndrome 9
Prolonged prothrombin time, Pulmonic stenosis OMIM:616559
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, 6
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612926
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Bone marrow hypocellularity, Thrombocytopenia, Hepatosplenomegaly ORPHA:210136
Mpi-Cdg
Gastrointestinal hemorrhage, Portal hypertension, Diarrhea, Vomiting, Protein-losing enteropathy,... ORPHA:79319
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Sepsis, Neutropenia in presence of anti-neutropil antibodies, Autoim... ORPHA:231154
Griscelli Syndrome
Abnormality of neutrophils, Splenomegaly, Hepatitis, Decreased circulating antibody level, Leukop... ORPHA:381
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Recurrent bacterial ... OMIM:214500
Blue Rubber Bleb Nevus
Iron deficiency anemia, Intestinal bleeding, Thrombocytopenia OMIM:112200
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Recur... OMIM:147060
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Gaucher Disease, Type I
Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:230800
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections OMIM:202700
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612925
Sengers Syndrome
Thrombocytopenia OMIM:212350
Gaucher Disease Type 1
Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Osteoarthritis, Leukopenia, Increase... ORPHA:77259
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dil... ORPHA:99901
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup... ORPHA:99103
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Neoplasm of the stomach... ORPHA:44890
Extracranial Carotid Artery Aneurysm
Autoimmunity, Subarachnoid hemorrhage, Severe infection, Vasculitis, Hypertension, Cerebral ische... ORPHA:494424
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... OMIM:307200
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Thrombocytopenia, Lymphopenia, Anemia OMIM:620365
Polymyositis
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... ORPHA:732
Congenital Bile Acid Synthesis Defect Type 4
Hematochezia ORPHA:79095
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, Ch... ORPHA:79124
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis, Recurren... ORPHA:36234
Peutz-Jeghers Syndrome
Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Neoplasm of the colon, In... ORPHA:2869
Liver Failure, Infantile, Transient
Acute hepatic failure, Feeding difficulties in infancy, Abdominal distention, Prolonged prothromb... OMIM:613070
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Thrombocytopenia OMIM:616577
Postinfectious Vasculitis
Cerebral vasculitis, Rheumatoid factor positive, Persistent human papillomavirus infection, Antin... ORPHA:48435
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... ORPHA:97286
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Thrombocytopenia, Bone marrow hypocellularity, Anemia, Neutropenia OMIM:614520
Shwachman-Diamond Syndrome 2
Normocytic anemia, Prolonged prothrombin time, Thrombocytopenia, Neutropenia OMIM:617941
Polycythemia Vera
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,... ORPHA:729
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Abdominal pain, Congestive heart failure, Dilated cardiomyopathy, Chronic diarrhea, Hematochezia,... OMIM:615895
3-Methylglutaconic Aciduria, Type Viib
Abnormal bleeding, Recurrent pneumonia, Leukopenia, Prolonged prothrombin time, Neutropenia, Thro... OMIM:616271
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Arrhythmia, Bruising susceptibility ORPHA:230839
Leukocyte Adhesion Deficiency, Type I
Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Chronic mucocu... OMIM:116920
Atrial Septal Defect, Coronary Sinus Type
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... ORPHA:99104
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Hypochromic microcytic anemia, Atopic dermatitis, Thrombocytopenia ORPHA:3240
Noonan Syndrome
Abnormal bleeding, Feeding difficulties in infancy, Arrhythmia, Abnormal platelet function ORPHA:648
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... OMIM:233710
Pediatric Systemic Lupus Erythematosus
Myositis, Skin rash, Discoid lupus rash, Malar rash, Leukopenia, Arthritis, Microangiopathic hemo... ORPHA:93552
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Congenital Disorder Of Glycosylation, Type Iil
Abnormal bleeding, Pancytopenia, Impaired T cell function, Splenomegaly, Decreased specific anti-... OMIM:614576
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia, Purpura OMIM:235400
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Sepsis, Epistaxis OMIM:612840
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Portal hypertension, ... ORPHA:131
Maternal Uniparental Disomy Of Chromosome 6
Eczema, Thrombocytopenia ORPHA:96181
Hereditary Hemorrhagic Telangiectasia
Gastrointestinal hemorrhage, Conjunctival telangiectasia, Intestinal polyposis, Transient ischemi... ORPHA:774
Immunodeficiency 23
Recurrent respiratory infections, Rheumatoid factor positive, Recurrent staphylococcal infections... OMIM:615816
Beemer-Ertbruggen Syndrome
Thrombocytopenia ORPHA:1237
Cog4-Cdg
Thrombocytopenia, Hepatosplenomegaly ORPHA:263501
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Normochromic anemia, Thrombocytopenia, Neutropenia OMIM:614857
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Leukopenia, Thrombocytopenia, Pancytopenia, Anemia OMIM:613845
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Osteomyelitis, Splenomegaly, Anemia, Thrombocytopenia OMIM:259700
Lig4 Syndrome
Pancytopenia, Psoriasiform dermatitis, Acute lymphoblastic leukemia, Chronic sinusitis, Thrombocy... OMIM:606593
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... OMIM:233690
Cholestasis, Progressive Familial Intrahepatic, 5
Prolonged prothrombin time, Hepatic failure OMIM:617049
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Portal hypertension, Congestive heart failure, Dilated cardiomyopathy, Esophageal varix, Prolonge... ORPHA:367
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Autoimmune hemolytic anemia, Recurrent viral infections, Severe... OMIM:606367
Idiopathic Bronchiectasis
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections, Myocar... ORPHA:60033
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein... ORPHA:2929
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Hashimoto thyroiditis, Thrombocytopenia ORPHA:83601
Q Fever
Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Splenomegaly, Myocarditis, Hepat... ORPHA:781
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Eczema, Thrombocytopenia, Reticulocytopenia, Leukopenia, Panniculitis, B lymphocytopenia, Bone ma... ORPHA:508542
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Nausea and vomiting, Pericarditis, Epistaxis, Abdominal pain, Conges... ORPHA:727
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Eczema, Thyroiditis, Iron deficiency anemia, Prolonged prothrombin time, Recur... OMIM:212750
Wolfram Syndrome 1
Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia OMIM:222300
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... OMIM:264800
Hypocomplementemic Urticarial Vasculitis
Recurrent bacterial infections, Small vessel vasculitis, Meningitis, Autoimmunity ORPHA:36412
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro... ORPHA:158048
Inhalational Anthrax
Vomiting, Internal hemorrhage, Hypotension ORPHA:247257
Pgm3-Cdg
Recurrent respiratory infections, Rheumatoid factor positive, Autoimmunity, Recurrent viral infec... ORPHA:443811
Thymoma
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synth... ORPHA:99867
Pseudohypoparathyroidism Type 1A
Prolonged QT interval, Hypertension, Abdominal symptom, Abnormal platelet function ORPHA:79443
Avian Influenza
Pneumonia, Hepatitis, Leukopenia, Conjunctivitis, Myelitis, Lymphopenia, Infectious encephalitis,... ORPHA:454836
Classical Ehlers-Danlos Syndrome
Prolonged bleeding time, Orthostatic hypotension, Hiatus hernia, Rectal prolapse, Arterial ruptur... ORPHA:287
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Skin rash, Megaloblastic anemia, Anemia, Neutropenia, Stomatitis, Thrombocytopenia OMIM:277380
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Abdominal pain, Chronic diarrhea, Chronic constipation, Vomiting OMIM:142680
Diarrhea 10, Protein-Losing Enteropathy Type
Secretory diarrhea, Feeding difficulties, Hematochezia, Decreased circulating antibody level, Pro... OMIM:618183
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent ... OMIM:601495
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Anemia, Leukopenia, Interstitial pneumonitis, Increased mean corpuscular volume,... OMIM:127550
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Thrombocytopenia, Bone marrow hypocellularity, Anemia ORPHA:3322
Yellow Fever
Abnormal bleeding, Shock, Supraventricular arrhythmia, Nausea, Excessive bleeding after a venipun... ORPHA:99829
Mevalonic Aciduria
Normocytic hypoplastic anemia, Skin rash, Fluctuating splenomegaly, Leukocytosis, Hepatosplenomeg... OMIM:610377
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Abdominal pain, Portal hypertension, Nausea and vomiting ORPHA:1414
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:274150
Mirage Syndrome
Petechiae, Thrombocytopenia, Intracranial hemorrhage, Leukopenia, Aspiration pneumonia, Hypoplast... OMIM:617053
Zollinger-Ellison Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Diarrhea, Epis... ORPHA:913
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Hematemesis, Diarrhea, Vasculitis, Bloody diarrhea, Hematochezia, Hypertensio... OMIM:615846
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Leukocytosis, Anemia ORPHA:90060
Shigellosis
Acute colitis, Pneumonia, Myocarditis, Leukocytosis, Peritonitis, Uveitis, Ulcerative colitis, Ar... ORPHA:810
Brucellosis
Knee osteoarthritis, Leukopenia, Increased circulating IgG level, Infectious encephalitis, Leukoc... ORPHA:1304
Congenital Disorder Of Glycosylation, Type Ih
Thrombocytopenia, Anemia OMIM:608104
Methylmalonic Aciduria, Cblb Type
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia OMIM:251110
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Juvenile gastrointestinal polyposis, Epistaxis, Telangiectasia, Hematochezia, Hamartomatous polyp... OMIM:175050
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Abdominal pain, Vasculitis, Gastrointestinal infarctions, Petechiae,... ORPHA:91138
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Dyspepsia, Intestinal obs... ORPHA:85450
Fanconi Anemia, Complementation Group E
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Bruising susceptibility, Thromboc... OMIM:600901
Transaldolase Deficiency
Pancytopenia, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:606003
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Thrombocytopenia, Splenomegaly, Hepatosplenome... ORPHA:464329
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Pseudo-Torch Syndrome 2
Thrombocytopenia, Cerebral hemorrhage, Petechiae OMIM:617397
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Eczema, Thrombocytopenia, Persistence of h... OMIM:617052
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Prolonged prothrombin time OMIM:618641
Catastrophic Antiphospholipid Syndrome
Myocarditis, Arthritis, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Thro... ORPHA:464343
20Q13.33 Microdeletion Syndrome
Hematochezia ORPHA:261311
Shwachman-Diamond Syndrome
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... ORPHA:811
Bartter Syndrome, Type 2, Antenatal
Impaired platelet aggregation OMIM:241200
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Malnutrition, Vomiting, Hypotension ORPHA:79456
Sandifer Syndrome
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ... ORPHA:71272
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellularity, Neutropenia, Thrombocytop... OMIM:613989
Aicardi-Goutieres Syndrome 1
Petechiae, Chilblains, Splenomegaly, Thrombocytopenia, Purpura OMIM:225750
Sepsis In Premature Infants
Abnormal bleeding, Thrombocytopenia, Leukocytosis, Splenomegaly, Enterocolitis, Anemia, Neutropen... ORPHA:90051
Necrotizing Enterocolitis
Leukocytosis, Peritonitis, Thrombocytopenia, Neutropenia ORPHA:391673
Lujo Hemorrhagic Fever
Maculopapular exanthema, Skin rash, Excessive bleeding after a venipuncture, Myocarditis, Leukocy... ORPHA:319213
Hypermethioninemia Due To Adenosine Kinase Deficiency
Prolonged prothrombin time, Pulmonic stenosis OMIM:614300
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Inflammatory abnormality of the skin, Eczema, Autoimmune thrombocyto... ORPHA:391487
Pemphigus Erythematosus
Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, Autoimmunity, S... ORPHA:79480
Fanconi Anemia, Complementation Group A
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Bruising susceptibility, Thromboc... OMIM:227650
Braddock-Carey Syndrome 1
Thrombocytopenia OMIM:619980
Schimke Immuno-Osseous Dysplasia
Impaired T cell function, Minimal change glomerulonephritis, Thrombocytopenia, Decreased proporti... ORPHA:1830
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Acute hepatic failure, Feeding difficulties in infancy, Diarrhea, Dilated ... ORPHA:71212
Mucopolysaccharidosis-Plus Syndrome
Splenomegaly, Recurrent pneumonia, Anemia, Leukopenia, Increased circulating IgM level, Bone marr... OMIM:617303
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Postural hypotension with compensatory tachycardia, Ab... ORPHA:85443
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Telangiectasia of the skin,... ORPHA:679
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Pericarditis, Monoclonal ... ORPHA:91139
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome... OMIM:612541
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... OMIM:260400
Marburg Hemorrhagic Fever
Anorexia, Odynophagia, Bloody diarrhea, Vomiting, Nausea, Internal hemorrhage, Abnormal bleeding,... ORPHA:99826
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Retinal hemorr... OMIM:192315
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Thrombocytopenia OMIM:617710
Holocarboxylase Synthetase Deficiency
Skin rash, Thrombocytopenia OMIM:253270
Immunodeficiency 21
Recurrent fungal infections, Recurrent mycobacterium avium complex infections, Recurrent viral in... OMIM:614172
Congenital Bile Acid Synthesis Defect Type 2
Prolonged prothrombin time, Hepatic failure, Fat malabsorption, Steatorrhea ORPHA:79303
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Abnormal bleeding, Giant cell hepatitis, Thrombocytopenia OMIM:208085
Cholesteryl Ester Storage Disease
Bone-marrow foam cells, Hypersplenism, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Leukop... OMIM:278000
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Epistaxis, Anorexia, Malabsorption, Congestive heart failure, Monocl... ORPHA:33226
Smith-Kingsmore Syndrome
Thrombocytopenia, Decreased circulating IgA level OMIM:616638
Schimke Immunoosseous Dysplasia
Pancytopenia, Abnormal immunoglobulin level, Abnormal T cell morphology, Anemia, Decreased circul... OMIM:242900
Sialuria
Prolonged prothrombin time, Episodic abdominal pain ORPHA:3166
Overlap Myositis
Leukopenia, Rheumatoid arthritis, Thrombocytopenia, Arthritis ORPHA:206572
Alg8-Cdg
Thrombocytopenia, Anemia ORPHA:79325
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Spider hemangioma, Abdominal pain, Fulminant hepatitis, Ulcerative c... ORPHA:2137
Immunodeficiency 12
Recurrent bacterial infections, Recurrent lower respiratory tract infections, Recurrent viral inf... OMIM:615468
Carney Triad
Gastrointestinal hemorrhage, Nausea and vomiting, Tachycardia, Anorexia, Abdominal pain, Gastroin... ORPHA:139411
Mitochondrial Complex I Deficiency, Nuclear Type 20
Thrombocytopenia OMIM:611126
Pseudo-Torch Syndrome 1
Splenomegaly, Thrombocytopenia, Petechiae OMIM:251290
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Bruising susceptibility, HbH hemoglobin, Microcytic anemia ORPHA:98791
Pediatric-Onset Graves Disease
Episcleritis, Keratitis, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Thro... ORPHA:525731
Vipoma
Nausea and vomiting, Poor appetite, Anorexia, Malabsorption, Secretory diarrhea, Episodic abdomin... ORPHA:97282
Fanconi Anemia, Complementation Group C
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Leukemia, Brui... OMIM:227645
Combined Oxidative Phosphorylation Deficiency 14
Thrombocytopenia, Anemia OMIM:614946
Dyskeratosis Congenita, Autosomal Dominant 3
Pancytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:613990
Systemic Lupus Erythematosus
Hemolytic anemia, Lupus nephritis, Discoid lupus rash, Cheilitis, Leukopenia, Arthritis, Malar ra... ORPHA:536
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Normochromic anemia, Thrombocytopenia OMIM:618775
Fanconi Anemia, Complementation Group F
Pneumonia, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:603467
Noonan Syndrome 4
Abnormal bleeding, Bruising susceptibility, Thrombocytopenia OMIM:610733
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, A... ORPHA:758
Dyskeratosis Congenita, Autosomal Recessive 1
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Thrombocytopenia OMIM:224230
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Acute colitis, Leukocytosis, Schistocytosis, Peritonitis, Microangiopathic hemol... ORPHA:90038
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Neutropenia, Punctate ke... OMIM:557000
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Leukopenia, Tubulointerstitial nephritis, ... ORPHA:289390
Recon Progeroid Syndrome
Thrombocytopenia, Keratoconjunctivitis sicca, Anemia OMIM:620370
Methylmalonic Aciduria, Cbla Type
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia OMIM:251100
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Protein avoidance, Prolonged prothrombin time, Vomiting, Abdominal pain OMIM:311250
Gaucher Disease, Type Ii
Splenomegaly, Thrombocytopenia, Recurrent aspiration pneumonia, Anemia OMIM:230900
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Angina pectoris, Retinal hemorrhage, Cerebral hemorrhage OMIM:177850
Congenital Disorder Of Glycosylation, Type It
Tachycardia, Sudden cardiac death, Dilated cardiomyopathy, Chronic diarrhea, Prolonged prothrombi... OMIM:614921
Alg12-Cdg
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... ORPHA:79324
Immunodeficiency 87 And Autoimmunity
Autoimmune hemolytic anemia, Anticardiolipin IgG antibody positivity, Recurrent viral infections,... OMIM:619573
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Recurrent viral infections, Autoimmune thrombocytopenia, Recurrent p... OMIM:102700
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... ORPHA:231222
16Q24.3 Microdeletion Syndrome
Chronic otitis media, Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... ORPHA:124
Whipple Disease
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Anorexia, Abdominal pain, Myoca... ORPHA:3452
Cardiac-Urogenital Syndrome
Prolonged bleeding time, Tachycardia, Intestinal malrotation OMIM:618280
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hematochezia, Chronic constipation, Feeding difficulties OMIM:619575
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Neutrophilia, Eosinophilia, Cholangitis, Eczema, Thrombocyt... ORPHA:3260
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... OMIM:306400
Ivic Syndrome
Leukocytosis, Thrombocytopenia ORPHA:2307
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Angina pectoris, Telangiectasia o... ORPHA:93672
Congenital Erythropoietic Porphyria
Abnormal bleeding, Hemolytic anemia, Reticulocytosis, Recurrent bacterial skin infections, Anisoc... ORPHA:79277
Gaucher Disease, Perinatal Lethal
Petechiae, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Anemia, Purpura OMIM:608013
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Abnormality of neutrophils, Anemia, Conjunctivitis, Pancreatitis, Th... ORPHA:36426
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Splenomegaly, Decreased circulating antibody level, Decrease... OMIM:300972
Lysinuric Protein Intolerance
Splenomegaly, Anemia, Leukopenia, Hemophagocytosis, Pancreatitis, Thrombocytopenia, Pulmonary hem... OMIM:222700
Diamond-Blackfan Anemia 21
Erythroid hypoplasia, Thrombocytopenia, Anemia OMIM:620072
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic microcytic an... OMIM:259720
S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy, Prolonged prothrombin time, Hepatocellular carcinoma ORPHA:88618
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Congestive heart failure, Gastrointest... ORPHA:363705
Combined Oxidative Phosphorylation Deficiency 37
Hypertrophic cardiomyopathy, Prolonged prothrombin time, Decreased liver function, Feeding diffic... OMIM:618329
Alport Syndrome 1, X-Linked
Nephritis, Thrombocytopenia OMIM:301050
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Leukopenia, Thrombocytopenia ORPHA:974
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intraventricular hemorrhage, Prolonged prothrombin time, Feeding difficulties OMIM:619055
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Leukopenia, Thrombocytopenia OMIM:301056
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Leukocytosis, Leukopenia, Prolonged prothrombin time, Thrombocytosis, Anemia ORPHA:20
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Anemia, Conjunctivitis, Neutropenia, Pancreatitis, Thrombocytopenia ORPHA:537
Acute Liver Failure
Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Diarrhea, Intracranial hemorrhage, Prolong... ORPHA:90062
Congenital Disorder Of Glycosylation, Type Ia
Pericarditis, Villous atrophy, Feeding difficulties in infancy, Diarrhea, Cardiomyopathy, Prolong... OMIM:212065
Lead Poisoning
Skin rash, Increased circulating IgE level, Imbalanced hemoglobin synthesis, Abnormal T cell morp... ORPHA:330015
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Bruising susceptibility, Thrombocytopenia OMIM:612394
Hermansky-Pudlak Syndrome
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Abnormality of thrombocytes, Anorexia,... ORPHA:79430
Fanconi Anemia, Complementation Group B
Aplastic anemia, Thrombocytopenia OMIM:300514
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Sinusitis, Dysgammaglobulinemia, Recurrent pneumonia, Bronchiectasis... OMIM:251260
Ectodermal Dysplasia And Immunodeficiency 1
Severe cytomegalovirus infection, Recurrent bacterial infections, Molluscum contagiosum OMIM:300291
Farber Disease
Thrombocytopenia, Arthritis, Anemia, Hepatosplenomegaly ORPHA:333
21Q22.11Q22.12 Microdeletion Syndrome
Recurrent otitis media, Thrombocytopenia, Anemia ORPHA:261323
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal bleeding, Gastrointestinal hemorrhage, Poor appetite, Diarrhea, Decreased circulating an... ORPHA:247598
Lynch Syndrome
Gastrointestinal hemorrhage, Intestinal polyposis, Nausea and vomiting, Abdominal pain, Malabsorp... ORPHA:144
Mogs-Cdg
Decreased circulating antibody level, Hepatosplenomegaly, Decreased circulating total IgM, Decrea... ORPHA:79330
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent urinary tract infections, Recurrent ear infections, Recurrent viral infections, Recurre... ORPHA:221139
Ppoma
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Poor appetite, Anorexia... ORPHA:97278
Lathosterolosis
Thrombocytopenia, Anisopoikilocytosis, Abnormal platelet morphology ORPHA:46059
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... ORPHA:231214
Castleman Disease
Decreased mean corpuscular volume, Thrombocytopenia, Anemia ORPHA:160
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Recurrent pneumonia OMIM:619769
Fanconi Anemia, Complementation Group D2
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Leukemia, Brui... OMIM:227646
Combined Oxidative Phosphorylation Deficiency 55
Thrombocytopenia, Anemia OMIM:619743
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Normochromic anemia, Thrombocytopenia OMIM:254900
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections OMIM:244460
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Telangiectasia... ORPHA:247691
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Thrombocytopenia, Intestinal bleeding, Bone marrow hypocellularity, Anemia OMIM:612199
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Nausea and vomiting, Abdominal pain, Malabsorption, Hepatocellular c... ORPHA:440437
Atelis Syndrome 2
Vitreous hemorrhage, Thrombocytopenia, Anemia OMIM:620185
Infantile Systemic Hyalinosis
Recurrent bacterial infections, Telangiectasia of the skin ORPHA:2176
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Congenital Disorder Of Glycosylation, Type Iiw
Membranoproliferative glomerulonephritis, Microcytic anemia, Splenomegaly, Anemia, Prolonged prot... OMIM:619525
Vici Syndrome
Recurrent respiratory infections, Recurrent viral infections, Congestive heart failure, Dilated c... OMIM:242840
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Thrombocytopenia ORPHA:457351
Insulin-Resistance Syndrome Type B
Skin rash, Pneumonia, Increased circulating IgA level, Osteoarthritis, Leukopenia, Increased circ... ORPHA:2298
Classic Homocystinuria
Gastrointestinal hemorrhage, Anorexia, Pulmonary embolism, Esophageal varix, Intracranial hemorrh... ORPHA:394
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hepatosplenomegaly, Anemia, Leukopenia, Increased circulating IgM level, Conjunctivitis, Bone mar... ORPHA:505248
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650
Tangier Disease
Thrombocytopenia, Anemia, Hepatosplenomegaly ORPHA:31150
Gaucher Disease Type 3
Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Thrombocytopenia ORPHA:77261
Grfoma
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Poor appetite, Anorexia... ORPHA:97261
Somatostatinoma
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Poor appetite, Anorexia... ORPHA:97283
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Splenomegaly, Thrombocytopenia OMIM:251880
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections OMIM:241410
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:277400
Thrombocytopenia-Absent Radius Syndrome
Thrombocytopenia ORPHA:3320
Kikuchi-Fujimoto Disease
Skin rash, Pustule, Splenomegaly, Myocarditis, Anemia, Leukopenia, Lymphocytosis, Neutropenia, Ma... ORPHA:50918
Immunoglobulin A Vasculitis
Gastrointestinal hemorrhage, Nausea and vomiting, Anorexia, Abdominal pain, Vasculitis, Gastroint... ORPHA:761
Wars2-Related Combined Oxidative Phosphorylation Defect
Thrombocytopenia ORPHA:572798
Ivic Syndrome
Leukocytosis, Thrombocytopenia OMIM:147750
Chromomycosis
Recurrent bacterial infections ORPHA:182
Porphyria, Congenital Erythropoietic
Splenomegaly, Hemolytic anemia, Conjunctivitis, Thrombocytopenia OMIM:263700
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Splenomegaly, Seborrheic dermatitis, Thrombocytopenia, Aspiration pneumonia OMIM:301072
Lysinuric Protein Intolerance
Abnormal bleeding, Glomerulonephritis, Hepatosplenomegaly, Anemia, Leukopenia, Tubulointerstitial... ORPHA:470
Tick-Borne Encephalitis
Thrombocytopenia, Leukocytosis, Leukopenia, Increased circulating IgG level, Increased circulatin... ORPHA:297
Leptospirosis
Pericarditis, Skin rash, Retinal hemorrhage, Uveitis, Hepatitis, Subconjunctival hemorrhage, Opti... ORPHA:509
Primary Ciliary Dyskinesia
Recurrent otitis media, Recurrent sinopulmonary infections, Recurrent mycobacterial infections ORPHA:244
Glucagonoma
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Poor appetite, Anorexia... ORPHA:97280
Dyskeratosis Congenita
Abnormality of neutrophils, Thrombocytopenia, Splenomegaly, Periodontitis, Bone marrow hypocellul... ORPHA:1775
Gaucher Disease
Abnormal bleeding, Pancytopenia, Osteomyelitis, Splenomegaly, Osteoarthritis, Hepatitis, Anemia, ... ORPHA:355
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Nausea and vomiting, Pericarditis, Recurrent intrapulmonary hemorrha... ORPHA:900
Isolated Biliary Atresia
Prolonged prothrombin time, Fat malabsorption, Decreased liver function ORPHA:30391
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Pneumonia, Thrombocytopenia, Leukocytosis, Myocarditis, Septic arthritis, Pancr... ORPHA:544482
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Megaloblastic anemia, Subdural hemorrhage, Neutropenia, Stomatitis, Thrombocytopenia ORPHA:79282
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Anemia, Decreased ci... OMIM:620005
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Thrombocytopenia OMIM:619005
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Thyroiditis, Tubuloi... ORPHA:79078
Sickle Cell Disease
Hypertension, Recurrent bacterial infections OMIM:603903
Dubowitz Syndrome
Eczema, Abnormality of neutrophils, Acute lymphoblastic leukemia, Anemia, Thrombocytopenia ORPHA:235
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent pneumonia, Acute leukemia, Thrombocytopenia ORPHA:647
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections OMIM:248500
Whim Syndrome
Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Recurrent bacterial in... ORPHA:51636
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope... ORPHA:447
Wilson Disease
Hemolytic anemia, Splenomegaly, Osteoarthritis, Atypical or prolonged hepatitis, Anemia, Thromboc... OMIM:277900
Proteasome-Associated Autoinflammatory Syndrome 1
Episcleritis, Parotitis, Microcytic anemia, Erythema nodosum, Splenomegaly, Increased circulating... OMIM:256040
Primary Sclerosing Cholangitis
Acute hepatic failure, Cholangiocarcinoma, Portal hypertension, Spider hemangioma, Abdominal pain... ORPHA:171
Neuroleptic Malignant Syndrome
Thrombocytosis, Leukocytosis, Thrombocytopenia, Aspiration pneumonia ORPHA:94093
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
HbH hemoglobin ORPHA:423479
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Infectious encephalitis, Abnormal hemoglobin, Anemia ORPHA:847
Superficial Siderosis
Abnormal bleeding, Subarachnoid hemorrhage, Nausea, Vomiting, Persistent bleeding after trauma, I... ORPHA:247245
Abetalipoproteinemia
Abnormal bleeding, Reticulocytosis, Acanthocytosis, Prolonged prothrombin time, Keratoconjunctivi... ORPHA:14
Wolfram Syndrome
Gastrointestinal hemorrhage, Malabsorption, Feeding difficulties in infancy, Cardiomyopathy, Gast... ORPHA:3463
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Pancytopenia, Abnormality of the spleen, Thrombocytopenia, Sple... ORPHA:2072
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Splenomegaly, Prolonged prothrombin time, Polycythemia ORPHA:309854
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Seborrheic dermatitis, Leukocytosis, Prolonged bleeding following circumcision, Hep... OMIM:274000
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Intracranial hemorrhage, Thrombocytopenia, Anemia ORPHA:163979
Fibular Hemimelia
Thrombocytopenia ORPHA:93323
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Anemia, Leukopenia, Elliptocytosis, Bone marrow hypocellularity, Thrombocytopenia ORPHA:2785
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Anemia, Leukopenia, Conjunctivitis, Bone marrow hypocellula... OMIM:305000
Cornelia De Lange Syndrome 1
Pneumonia, Thrombocytopenia, Otitis media OMIM:122470
Glycogen Storage Disease Ib
Hypertension, Recurrent bacterial infections OMIM:232220
Behçet Disease
Gastrointestinal hemorrhage, Aortic regurgitation, Pericarditis, Nausea and vomiting, Myocardial ... ORPHA:117
Cystic Fibrosis
Recurrent Aspergillus infections, Recurrent respiratory infections, Recurrent Burkholderia cepaci... ORPHA:586
Pearson Syndrome
Reticulocytosis, Pancytopenia, Splenomegaly, Anemia, Bone marrow hypocellularity, Neutropenia, Hy... ORPHA:699
Pachydermoperiostosis
Gastrointestinal hemorrhage, Peptic ulcer, Malabsorption ORPHA:2796
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Deeah Syndrome
Decreased hemoglobin concentration, Thrombocytopenia OMIM:619004
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Acne, Impaired T cell function, Abnormality of thrombocytes, Seborrh... ORPHA:567
Reynolds Syndrome
Gastrointestinal hemorrhage, Raynaud phenomenon, Lip telangiectasia, Palmar telangiectasia, Steat... OMIM:613471
Jacobsen Syndrome
Thrombocytopenia OMIM:147791
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Cholangitis, Hypersplenism, Splenomegaly, Recurrent pneumonia, Hepat... ORPHA:731
Menkes Disease
Gastrointestinal hemorrhage, Nausea and vomiting, Malabsorption, Feeding difficulties in infancy,... ORPHA:565
Chronic Visceral Acid Sphingomyelinase Deficiency
Abnormal bleeding, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Acute promyelocytic ... ORPHA:77293
Sarcoidosis
Hemolytic anemia, Maculopapular exanthema, Eosinophilia, Parotitis, Erythema nodosum, Increased T... ORPHA:797
Jacobsen Syndrome
Bone marrow hypocellularity, Eczema, Thrombocytopenia ORPHA:2308
Aicardi-Goutières Syndrome
Myositis, Chilblains, Neonatal alloimmune thrombocytopenia, Chronic lymphatic leukemia, Hepatospl... ORPHA:51
Hardikar Syndrome
Cholangitis, Hematemesis, Splenomegaly, Hypersplenism, Hepatosplenomegaly, Pyelonephritis, Thromb... OMIM:301068
Oculocerebrorenal Syndrome Of Lowe
Thrombocytopenia, Cheilitis, Arthritis, Periodontitis, Chronic otitis media, Anemia ORPHA:534
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Gastrointestinal hemorrhage, Congestive heart failure, Bruising susceptibility, Arterial rupture OMIM:225400
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertension, Pulmonary venous hypertension, Recurrent bacterial infections, Epistaxis ORPHA:79259
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Chronic constipation, Prolonged prothrombin time, Impaired oropharyngeal swallow response, Impair... ORPHA:404454
Ogden Syndrome
Eczema, Iron deficiency anemia, Recurrent otitis media, Polycythemia, Thrombocytopenia OMIM:300855
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Leukopenia, Anemia, Thrombocytopenia ORPHA:84
Digeorge Syndrome
Acne, Impaired T cell function, Seborrheic dermatitis, Splenomegaly, Recurrent pneumonia, Anemia,... OMIM:188400
Exercise-Induced Malignant Hyperthermia
Abnormal bleeding, Thrombocytopenia ORPHA:466650
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Abdominal pain, Malnutrition, Vomiting, Nausea OMIM:229600
Plague
Abnormal bleeding, Tachycardia, Anorexia, Abdominal pain, Hematemesis, Diarrhea, Enterocolitis, B... ORPHA:707
Roberts Syndrome
Thrombocytopenia ORPHA:3103
Liver Disease, Severe Congenital
Chronic gastritis, Eczema, Pneumonia, Thrombocytopenia, Splenomegaly, Peritonitis, Leukopenia, Ly... OMIM:619991
Noonan Syndrome 1
Abnormal bleeding, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Synovitis,... OMIM:163950
Osteogenesis Imperfecta
Thrombocytopenia, Osteoarthritis, Bruising susceptibility, Cerebral hemorrhage ORPHA:666
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Abdominal pain ORPHA:538
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent infections ORPHA:2273
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Feeding difficulties in infancy, Nasogastric tube feeding in infancy... ORPHA:508488
Tuberous Sclerosis Complex
Hypertension, Internal hemorrhage ORPHA:805
Vascular Ehlers-Danlos Syndrome
Abnormal bleeding, Telangiectasia of the skin, Transient ischemic attack, Renovascular hypertensi... ORPHA:286
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent Staphylococcus aureus infections, Syncope, Orthostatic hypotension due to autonomic dys... ORPHA:642

Histopathology

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

There is no histopathology data for Vwf

IMPC related publications

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

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

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Vwftm43589(L1L2_st1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Vwftm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Vwftm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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