banner
Genes Phenotypes Help, News, Blog

Gene: Vwf MGI:98941

Log in to follow
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
Epistaxis, Abnormal bleeding, Bruising susceptibility, Persistent bleeding after trauma, Prolonge... OMIM:277480
Von Willebrand Disease, Type 1
Aortic valve stenosis, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged... OMIM:193400
Von Willebrand Disease, Type 2
Epistaxis, Thrombocytopenia, Bruising susceptibility, Menorrhagia 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 adhesion, Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggrega... OMIM:209050
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... OMIM:619130
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Abnormal bleeding, Impaired arachidonic acid-induced platelet aggregation,... OMIM:619271
Von Willebrand Disease, Platelet-Type
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Glanzmann Thrombasthenia 2
Epistaxis, Decreased platelet glycoprotein IIb-IIIa, Abnormal bleeding, Bruising susceptibility, ... OMIM:619267
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet... ORPHA:231393
Platelet Glycoprotein Iv Deficiency
Giant platelets, Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia OMIM:608404
Bleeding Disorder, Platelet-Type, 25
Bruising susceptibility, Excessive bleeding from superficial cuts, Prolonged bleeding after denta... OMIM:620486
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Abnormal bleeding, Petechiae, Thrombocytopenia, Impaired ... OMIM:187800
Thrombocytopenia 9
Abnormal bleeding, Abnormal platelet aggregation, Thrombocytopenia OMIM:620478
Bleeding Disorder, Platelet-Type, 18
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Impaired ADP-indu... OMIM:615888
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia, Impaired platelet aggregation, Macrothrombocytopenia, Post-partum hemorrhage, M... OMIM:124900
Bleeding Disorder, Platelet-Type, 15
Epistaxis, Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggrega... OMIM:615193
Bleeding Disorder, Platelet-Type, 22
Gastrointestinal hemorrhage, Excessive bleeding from superficial cuts, Subcutaneous hemorrhage, I... OMIM:618462
Platelet Signal Processing Defect
Epistaxis, Abnormal bleeding, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impair... OMIM:173590
Bernard-Soulier Syndrome
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Giant platelets, Pr... OMIM:231200
Glanzmann Thrombasthenia 1
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Decreased platelet glycoprotein IIb-II... 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
Epistaxis, Abnormal bleeding, Bruising susceptibility, Giant platelets, Leukocyte inclusion bodie... OMIM:155100
Bleeding Disorder, Platelet-Type, 11
Epistaxis, Bruising susceptibility, Ecchymosis, Abnormal platelet count, Impaired ristocetin-indu... OMIM:614201
Bleeding Disorder, Platelet-Type, 21
Abnormal bleeding, Eczematoid dermatitis, Psoriasiform dermatitis, Impaired ADP-induced platelet ... OMIM:617443
Thrombocytopenia With Beta-Thalassemia, X-Linked
Epistaxis, Increased RBC distribution width, Bruising susceptibility, Reduced platelet alpha gran... OMIM:314050
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... OMIM:187950
Glanzmann Thrombasthenia
Gingival bleeding, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Bruisi... ORPHA:849
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Epistaxis, Bruising susceptibility, Impaired arachidonic acid-induced platelet aggregation, Ecchy... OMIM:614009
Platelet Disorder, Undefined
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Slc35A1-Cdg
Pneumonia, Giant platelets, Abnormal bleeding, Subcutaneous hemorrhage, Pulmonary hemorrhage, Abn... ORPHA:238459
Bleeding Disorder, Platelet-Type, 8
Epistaxis, Abnormal bleeding, Bruising susceptibility, Impaired ADP-induced platelet aggregation,... OMIM:609821
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d... OMIM:137560
Factor V Deficiency
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged prothrombin time, Prolonged blee... OMIM:227400
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Gingival bleeding, Epistaxis, Stomatocytosis, Bruising susceptibility, Prolonged bleeding after d... OMIM:153670
Von Willebrand Disease, Type 3
Epistaxis, Abnormal bleeding, Bruising susceptibility, Persistent bleeding after trauma, Prolonge... OMIM:277480
Immune Thrombocytopenia
Abnormal bleeding, Thrombocytopenia OMIM:188030
Prothrombin Deficiency, Congenital
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Ecchymosis, P... OMIM:613679
Immunodeficiency 34
Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis OMIM:300645
Myh9-Related Disease
Nephritis, Giant platelets, Bruising susceptibility, Spontaneous, recurrent epistaxis, Congenital... ORPHA:182050
Hemophilia B
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Petechiae, Persistent bleeding a... OMIM:306900
Bleeding Disorder, Platelet-Type, 17
Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Increased RBC... 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
Gray Platelet Syndrome
Epistaxis, Abnormal bleeding, Bruising susceptibility, Abnormal number of alpha granules, Impaire... OMIM:139090
Hermansky-Pudlak Syndrome 9
Leukopenia, Recurrent skin infections, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Abdominal pain, Fundic gland polyposis, Gastric adenocarcinoma, Melena OMIM:619182
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Quebec Platelet Disorder
Epistaxis, Bruising susceptibility, Thrombocytopenia, Joint hemorrhage, Menorrhagia, Impaired epi... OMIM:601709
Von Willebrand Disease, Type 1
Aortic valve stenosis, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged... OMIM:193400
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia, Pyloric stenosis OMIM:188025
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... OMIM:614372
Bleeding Disorder, Platelet-Type, 12
Epistaxis, Intestinal bleeding, Bruising susceptibility, Impaired platelet aggregation, Joint hem... OMIM:605735
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Neonatal alloimmune thrombocytopenia, Abnormal bleeding, Spontaneous... ORPHA:853
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Bleeding Disorder, Platelet-Type, 9
Bruising susceptibility, Thrombocytopenia OMIM:614200
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections OMIM:308220
Hermansky-Pudlak Syndrome 7
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Persistent bleedi... OMIM:614076
Bernard-Soulier Syndrome
Gingival bleeding, Gastrointestinal hemorrhage, Decreased platelet glycoprotein Ib-IX-V, Abnormal... ORPHA:274
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Mac... OMIM:300835
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Antinuclear antibody positivity, Recurrent respiratory infections OMIM:613495
Hemophilia B
Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontaneous, recurrent epist... ORPHA:98879
Acquired Von Willebrand Syndrome
Aortic valve stenosis, Epistaxis, Gastrointestinal hemorrhage, Aortic regurgitation, Hypotension,... ORPHA:99147
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Epistaxis, Impaired collagen-induced platelet aggregation, Bruising susceptibility, Acute monocyt... OMIM:601399
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Hemophilia A
Gingival bleeding, Epistaxis, Bruising susceptibility, Petechiae, Muscle hemorrhage, Persistent b... OMIM:306700
Hermansky-Pudlak Syndrome 3
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Spontaneous, recurrent epistaxis, ... OMIM:614072
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia, Abnormal bleeding, Prolonged bleeding time OMIM:185050
Blue Rubber Bleb Nevus
Volvulus, Intestinal bleeding, Gastrointestinal infarctions, Prolonged bleeding time ORPHA:1059
Bleeding Disorder, Platelet-Type, 19
Epistaxis, Abnormal bleeding, Spontaneous hematomas, Thrombocytopenia, Anemia, Macrothrombocytope... OMIM:616176
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Decreased proportion of CD4-positive T cell... OMIM:619374
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... ORPHA:2585
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Complement Component 8 Deficiency, Type I
Meningitis, Systemic lupus erythematosus OMIM:613790
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Thrombocytopenia 2
Bruising susceptibility, Abnormal platelet volume, Leukocytosis, Abnormal platelet shape, Thrombo... OMIM:188000
Neuroendocrine Tumor Of The Rectum
Hematochezia, Hypotension, Lack of bowel sounds, Right ventricular failure, Tenesmus, Protracted ... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hematochezia, Hypotension, Lack of bowel sounds, Right ventricular failure, Tenesmus, Protracted ... ORPHA:100082
Sitosterolemia 1
Stomatocytosis, Giant platelets, Abnormal bleeding, Reticulocytosis, Splenomegaly, Episodic hemol... OMIM:210250
Hermansky-Pudlak Syndrome 5
Epistaxis, Bruising susceptibility, Impaired ADP-induced platelet aggregation, Thrombocytopenia, ... OMIM:614074
Congenital Factor V Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hematochezia, Prolonged bleeding follo... ORPHA:326
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Von Willebrand Disease
Epistaxis, Gastrointestinal hemorrhage, Abnormality of thrombocytes, Bruising susceptibility, Gas... ORPHA:903
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis OMIM:616126
Congenital Factor Vii Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... ORPHA:327
Neuroendocrine Tumor Of The Colon
Hypotension, Lack of bowel sounds, Right ventricular failure, Protracted diarrhea, Tricuspid regu... ORPHA:100080
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Recurrent bacterial infections, Recurrent candida infections OMIM:242870
Neurofibromatosis-Noonan Syndrome
Hypertrophic cardiomyopathy, Dysphagia, Prolonged bleeding time, Pulmonic stenosis ORPHA:638
Essential Thrombocythemia
Acute leukemia, Abnormal bleeding, Bruising susceptibility, Abnormality of thrombocytes, Leukocyt... ORPHA:3318
Immunodeficiency 31A
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... OMIM:614892
Familial Hypofibrinogenemia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding ORPHA:101041
Familial Dysfibrinogenemia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding ORPHA:98881
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Recu... OMIM:611521
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis, Systemic lupus erythe... OMIM:613779
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Diarrhea, Abnormal bleeding, Vomiting, Increased circulating antibod... ORPHA:319218
Congenital Factor X Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... ORPHA:328
Gray Platelet Syndrome
Epistaxis, Abnormality of thrombocytes, Abnormal bleeding, Bruising susceptibility, Splenomegaly,... ORPHA:721
Amegakaryocytic Thrombocytopenia, Congenital, 1
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
C1Q Deficiency 1
Recurrent infections, Autoimmunity, Systemic lupus erythematosus OMIM:613652
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Thrombocytopenia 10
Decreased mean platelet volume, Abnormal bleeding, Bruising susceptibility, Petechiae, Spontaneou... OMIM:620484
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Recurre... OMIM:613860
Neuroendocrine Tumor Of Stomach
Hypotension, Cardiogenic shock, Right ventricular failure, Hepatic failure, Lack of bowel sounds,... ORPHA:100075
Congenital Factor Ii Deficiency
Epistaxis, Prolonged bleeding following circumcision, Abnormal bleeding, Excessive bleeding from ... ORPHA:325
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Immunoglobulin A Deficiency 1
Recurrent infections, Recurrent respiratory infections, Recurrent infection of the gastrointestin... OMIM:137100
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Pouchitis
Hematochezia, Diarrhea, Tenesmus, Clostridium difficile colitis, Bowel urgency, Abdominal pain, A... ORPHA:217067
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections OMIM:616022
Factor X Deficiency
Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge... OMIM:227600
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Hypertrophic card... ORPHA:464321
Factor Vii And Factor Viii, Combined Deficiency Of
Intestinal bleeding OMIM:134430
Bleeding Disorder, Platelet-Type, 20
Epistaxis, Thrombocytopenia, Bruising susceptibility, Menorrhagia OMIM:616913
Von Willebrand Disease, Type 2
Epistaxis, Thrombocytopenia, Bruising susceptibility, Menorrhagia OMIM:613554
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Roch-Leri Mesosomatous Lipomatosis
Purpura, Thrombocytopenia ORPHA:529
Wiskott-Aldrich Syndrome 2
Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, Defective T cell proliferati... OMIM:614493
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, Abnormal bleeding, HbH hemoglobin, Bruising susceptibility, Microcytic anemia, Sp... ORPHA:231401
Thrombocytopenia 1
Decreased mean platelet volume, Epistaxis, Bruising susceptibility, Eczematoid dermatitis, Increa... OMIM:313900
Wiskott-Aldrich Syndrome
Gingival bleeding, Inflammation of the large intestine, Diarrhea, Increased circulating IgE level... OMIM:301000
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Abnormal bleeding, Anemia of inadequate productio... ORPHA:98826
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Abnormal bleeding, Glomerulonephritis, Thrombocytopenia OMIM:314000
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Chronic otitis media, Bruising susceptibility, Leuko... ORPHA:3226
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Hermansky-Pudlak Syndrome 11
Gingival bleeding, Epistaxis, Bruising susceptibility, Reduced platelet dense granules, Impaired ... OMIM:619172
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain OMIM:191390
Combined Deficiency Of Factor V And Factor Viii
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis... ORPHA:35909
Acute Myelomonocytic Leukemia
Abnormal bleeding, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia ORPHA:517
Thrombocytopenia 3
Decreased mean platelet volume, Epistaxis, Petechiae, Thrombocytopenia OMIM:273900
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia OMIM:133180
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Immunodeficiency 116
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections OMIM:608957
Congenital Disorder Of Glycosylation, Type Iif
Subcutaneous hemorrhage, Pulmonary hemorrhage, Decreased platelet glycoprotein Ib, Neutropenia, T... OMIM:603585
Hermansky-Pudlak Syndrome 1
Gingival bleeding, Hematochezia, Epistaxis, Inflammation of the large intestine, Bruising suscept... OMIM:203300
Pelger-Huet Anomaly
Giant platelets, Eczematoid dermatitis, Recurrent otitis media, Hyposegmentation of neutrophil nu... OMIM:169400
Immunodeficiency 51
Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Recurrent otitis media, Recu... OMIM:613953
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Thrombocytopenia 5
Epistaxis, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Bruising susceptibi... OMIM:616216
Solitary Rectal Ulcer Syndrome
Hematochezia, Tenesmus, Stercoral ulcer, Chronic constipation, Rectal prolapse, Episodic abdomina... ORPHA:209964
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent mycobacterial infections, Recurrent Klebsiella infections, Recurrent candida infections... ORPHA:319552
Bilateral Striopallidodentate Calcinosis
Subcutaneous hemorrhage, Thrombocytopenia ORPHA:1980
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Bone Marrow Failure Syndrome 2
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia OMIM:615715
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Internal hemorrhage, P... ORPHA:90308
Cap Polyposis
Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Abdominal distention, Abdominal pain, C... ORPHA:160148
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Congenital Dyserythropoietic Anemia Type Iii
Gingival bleeding, Post-partum hemorrhage, Oral cavity bleeding, Melena ORPHA:98870
Immune Thrombocytopenia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Bruising suscep... ORPHA:3002
Immunoglobulin A Deficiency 2
Recurrent infection of the gastrointestinal tract, Recurrent sinopulmonary infections, Autoimmunity OMIM:609529
Vascular Hyalinosis
Hematochezia, Protein-losing enteropathy, Diarrhea, Malabsorption, Subarachnoid hemorrhage OMIM:277175
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Recurrent infection of the gastrointestinal tract, ... OMIM:608184
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... OMIM:619041
Masp2 Deficiency
Recurrent pneumonia, Systemic lupus erythematosus OMIM:613791
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anemia, Thrombocytopenia, Neutropenia, Monocytosis OMIM:620534
Wiskott-Aldrich Syndrome
Gingival bleeding, Abnormal eosinophil morphology, Acute leukemia, Inflammation of the large inte... ORPHA:906
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Autoerythrocyte Sensitization Syndrome
Impaired platelet adhesion, Gastrointestinal hemorrhage, Epistaxis, Diarrhea, Bruising susceptibi... ORPHA:324636
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Recurrent pneumonia, Periodontitis, Enlarged platelet dense gr... OMIM:608233
Systemic Lupus Erythematosus 16
Anti-dsDNA antibody positivity, Perinuclear antineutrophil antibody positivity, Antinuclear antib... OMIM:614420
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding OMIM:600195
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Epistaxis, Bruising susceptibility, Acanthocytosis, Petechiae, Anemia of inadequate production, P... OMIM:300367
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Poor s... ORPHA:2198
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Recurrent viral infections, Autoimmunity, Recurrent gastroent... ORPHA:275
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Thr... OMIM:615285
Immunodeficiency 61
Recurrent otitis media, Recurrent respiratory infections, Recurrent sinusitis, Recurrent bacteria... OMIM:300310
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Immunodeficiency 46
Conjunctivitis, Neutropenia, Anemia, Intermittent thrombocytopenia, Decreased circulating antibod... OMIM:616740
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level, Abnormal bl... OMIM:604928
Fanconi Anemia, Complementation Group G
Leukemia, Anemia, Neutropenia, Thrombocytopenia OMIM:614082
Congenital Factor Xi Deficiency
Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Prolonged bleeding after dental extrac... ORPHA:329
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Iron deficiency anemia, Impaired platelet aggregation OMIM:618372
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Diarrhea, Nausea and vomiting, Anorexia, Tachycardia, Abdominal pain, Purpura,... ORPHA:99827
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Hepatic failure, Hypertrophic cardiomyopathy, Acute hepatic failure,... OMIM:276700
Juvenile Polyposis Of Infancy
Hematochezia, Gastrointestinal hemorrhage, Intestinal bleeding, Abnormal bleeding, Diarrhea, Prot... ORPHA:79076
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia ORPHA:295
Polycythemia Vera
Gastrointestinal hemorrhage, Increased hematocrit, Cerebral hemorrhage, Leukocytosis, Splenomegal... OMIM:263300
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Chilblains, Thrombocytopenia OMIM:610329
Transcobalamin Deficiency
Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro... ORPHA:859
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Hepatic failure, Fat malabsorption, Prolonged prothrombin time OMIM:214950
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolytic anemia, ... OMIM:616576
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Epistaxis, Abnormal bleeding, Prolonged prothrombin time OMIM:610842
Bone Marrow Failure Syndrome 4
Bone marrow hypocellularity, Eczematoid dermatitis, Leukopenia, Thrombocytopenia, Anemia, Decreas... OMIM:618116
Hemorrhagic Fever-Renal Syndrome
Epistaxis, Hypotension, Diarrhea, Vomiting, Shock, Palpitations, Petechiae, Ecchymosis, Nausea, A... ORPHA:340
Immunodeficiency 110 With Lymphoproliferation
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch... OMIM:614868
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Enterocolitis, Colitis, Crohn's disease OMIM:613148
Angioma, Hereditary Neurocutaneous
Gastrointestinal hemorrhage OMIM:106070
Rift Valley Fever
Gingival bleeding, Abnormal bleeding, Anorexia, Hematemesis, Thrombocytopenia, Melena, Retinal he... ORPHA:319251
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Recurrent bacterial infections, Meningitis, Recurren... OMIM:613500
Immunodeficiency, Common Variable, 4
Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis OMIM:613494
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Skin rash, Thrombocytopenia, Neutropenia, Anemia, Conjunctivitis OMIM:603552
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:620475
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Skin rash, Thrombocytopenia, Colitis, Hemolytic anemia, Anterior uveitis OMIM:616744
Cernunnos-Xlf Deficiency
Lymphopenia, Decreased circulating antibody level, Thrombocytopenia, B lymphocytopenia, Anemia, T... ORPHA:169079
Systemic Lupus Erythematosus 17
Myelitis, Lymphopenia, Leukopenia, Malar rash, Optic neuritis, Thrombocytopenia, Autoimmune throm... OMIM:301080
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Dentinogenesis Imperfecta
Bruising susceptibility, Prolonged bleeding time ORPHA:49042
Immunodeficiency With Hyper-Igm, Type 2
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent infection of the gast... OMIM:605258
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Abnormal natural killer cell physiology, Recu... OMIM:613101
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Idiopathic Aplastic Anemia
Gingival bleeding, Epistaxis, Bone marrow hypocellularity, Pancytopenia, Ecchymosis, Anemia, Reti... ORPHA:88
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Acquired Purpura Fulminans
Hepatic failure, Macular purpura, Shock, Internal hemorrhage, Thrombocytopenia, Prolonged prothro... ORPHA:49566
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Malaria
Anemia, Thrombocytopenia ORPHA:673
Systemic Lupus Erythematosus
Nephritis, Leukopenia, Malar rash, Lupus nephritis, Thrombocytopenia, Arthritis, Hemolytic anemia... OMIM:152700
Nephrotic Syndrome, Type 7
Membranoproliferative glomerulonephritis, Hemolytic anemia, Thrombocytopenia OMIM:615008
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Aicardi-Goutieres Syndrome 6
Chilblains, Hemolytic anemia, Splenomegaly, Thrombocytopenia OMIM:615010
Isolated Agammaglobulinemia
Pneumonia, Abnormal lymphocyte morphology, Otitis media, Skin rash, Inflammatory abnormality of t... ORPHA:229717
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... OMIM:159550
Amegakaryocytic Thrombocytopenia, Congenital, 2
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:620481
Complement Factor B Deficiency
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Pontocerebellar Hypoplasia, Type 15
Anemia, Chronic neutropenia, Thrombocytopenia OMIM:619302
Hermansky-Pudlak Syndrome 6
Epistaxis, Bruising susceptibility, Impaired arachidonic acid-induced platelet aggregation, Impai... OMIM:614075
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Leukopenia, Splenomegaly, Skin rash, Myositis, Purpura, Gastritis, K... ORPHA:809
Congenital Fibrinogen Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Volvulus, Subcutaneous hemorrhage,... ORPHA:335
Hermansky-Pudlak Syndrome 8
Gingival bleeding, Epistaxis, Bruising susceptibility, Excessive bleeding from superficial cuts, ... OMIM:614077
Fanconi Anemia, Complementation Group T
Bone marrow hypocellularity, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia OMIM:616435
Zygomycosis
Colon perforation, Hematochezia, Gastrointestinal hemorrhage, Epistaxis, Diarrhea, Vomiting, Ilei... ORPHA:73263
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Immunodeficiency 84
Recurrent bacterial infections, Persistent EBV viremia OMIM:619437
Bile Acid Synthesis Defect, Congenital, 3
Hematochezia, Hepatic failure, Diarrhea, Prolonged prothrombin time, Steatorrhea OMIM:613812
Thyrocerebrorenal Syndrome
Nephritis, Thrombocytopenia ORPHA:3327
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Prolonged prothrombin time, Ce... OMIM:277450
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Recurrent lower respiratory tract infections, Recurrent bronchitis, Recur... OMIM:613501
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Diarrhea, Protein-losing enteropathy, Abdominal distention ORPHA:103910
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Caroli Syndrome
Hepatic failure, Abnormal bleeding, Portal hypertension, Abdominal rigidity, Hematemesis, Cholang... ORPHA:480520
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells OMIM:607616
Telangiectasia, Hereditary Hemorrhagic, Type 2
Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, Facial telangiectasia, Gastrointest... OMIM:600376
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Recurrent otitis media, Autoimmunity, Recurrent bronchitis, Recurrent sinusi... OMIM:240500
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Hematochezia, Inflammation of the large intestine, Recurrent pneu... OMIM:617718
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Feeding difficulties in infancy, Abdominal ... ORPHA:2924
Mucoepithelial Dysplasia, Hereditary
Chronic diarrhea, Corneal neovascularization, Melena OMIM:158310
Hemophilia A
Gastrointestinal hemorrhage, Spontaneous hematomas, Intracranial hemorrhage, Intraventricular hem... ORPHA:98878
Telangiectasia, Hereditary Hemorrhagic, Type 1
Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Gastroin... OMIM:187300
Eosinophilic Gastroenteritis
Hematochezia, Protein-losing enteropathy, Diarrhea, Vomiting, Malabsorption, Abnormality of the g... ORPHA:2070
Immunodeficiency 32B
Pneumonia, Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Sinusitis, Eos... OMIM:226990
Sea-Blue Histiocytosis
Abnormal bleeding, Sea-blue histiocytosis, Splenomegaly, Petechiae, Thrombocytopenia, Blepharitis ORPHA:158029
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Systemic lupus erythematosus, Recurrent otitis media, Autoimmunity, Autoimmune hemolytic anemia, ... ORPHA:444463
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Agammaglobulinemia 9, Autosomal Recessive
Eczematoid dermatitis, Agammaglobulinemia, Seborrheic dermatitis, Absent circulating B cells, Thr... OMIM:619693
Turcot Syndrome With Polyposis
Hematochezia, Diarrhea, Vomiting, Adenomatous colonic polyposis, Intestinal polyposis, Nausea, He... ORPHA:99818
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections OMIM:616873
Immunodeficiency 33
Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc... OMIM:300636
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Diarrhea, Gastroesophageal reflux, Stercoral ulcer, Abnormal g... ORPHA:263665
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephritis, Gastrointestinal hemorrhage, Reduced delayed hypersensitivity, Malar rash, Petechiae, ... OMIM:603909
Cerebroretinal Microangiopathy With Calcifications And Cysts 3
Gastrointestinal hemorrhage, Feeding difficulties OMIM:620368
Afibrinogenemia, Congenital
Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr... OMIM:202400
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Diffuse alveolar hemorrhage, Reduced natural killer cell activ... OMIM:616050
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent viral infections, Chronic mucocutaneous candidiasis, Recurrent protozoan infections, Re... ORPHA:572
Folate Malabsorption, Hereditary
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:229050
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent pneumonia, Recurrent viral infections, Sepsis, Severe viral infection, Cerebral vasculi... OMIM:243700
Immunodeficiency 27B
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections OMIM:615978
Osteogenesis Imperfecta, Type Xvi
Bruising susceptibility, Prolonged bleeding time OMIM:616229
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Chronic... OMIM:150550
Thyrocerebroretinal Syndrome
Nephritis, Thrombocytopenia OMIM:274240
Leishmaniasis
Abnormal bleeding, Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Increa... ORPHA:507
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia OMIM:616738
Beta-Thalassemia
Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia ORPHA:848
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hypersplenism, Splenomegaly, Thrombocytopenia OMIM:610539
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Recurrent respiratory infections, Recurrent sinusitis, Recurrent bacteria... OMIM:613493
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt... OMIM:308240
Selective Igm Deficiency
Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent bronchitis, Meningitis, Autoimmune ... ORPHA:331235
Tufted Angioma
Anemia, Purpura, Petechiae, Thrombocytopenia ORPHA:1063
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Severe Hemophilia A
Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Subdural hemor... ORPHA:169802
Moderate Hemophilia A
Gingival bleeding, Gastrointestinal hemorrhage, Abnormal bleeding, Subdural hemorrhage, Spontaneo... ORPHA:169805
Stuve-Wiedemann Syndrome 2
Eczematoid dermatitis, Thrombocytopenia OMIM:619751
T-Cell Immunodeficiency With Thymic Aplasia
Sepsis, Invasive fungal infection, Opportunistic infection, Severe viral infection, Recurrent can... ORPHA:83471
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Neutropenia, Megaloblastic anemia, Thrombocytopenia OMIM:598500
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Infantile Liver Failure Syndrome 2
Acute hepatic failure, Cardiomyopathy, Vomiting, Prolonged prothrombin time OMIM:616483
Radiation Proctitis
Hematochezia, Diarrhea, Arteritis, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, ... ORPHA:70475
Malignant Atrophic Papulosis
Constrictive pericarditis, Gastrointestinal infarctions, Gastrointestinal hemorrhage OMIM:602248
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Hematochezia, Abnormal bleeding, Duodenal polyposis, Multiple gastric polyps, Small intestinal po... ORPHA:329971
Immunodeficiency 112
Recurrent viral infections, Chronic mucocutaneous candidiasis, BCGitis, BCGosis, Recurrent bacter... OMIM:620449
Tularemia
Pneumonia, Cutaneous abscess, Leukocytosis, Otitis media, Skin rash, Increased circulating antibo... ORPHA:3392
Primary Myelofibrosis
Abnormal bleeding, Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, ... ORPHA:824
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion... OMIM:613011
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczematoid dermatitis, Hepatitis, Increased circulating IgE level, Decreased FOXP3-expressing T c... OMIM:304790
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Fanconi Anemia, Complementation Group V
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:617243
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Abnormal bleeding, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret... ORPHA:35858
Griscelli Syndrome, Type 2
Recurrent bacterial infections OMIM:607624
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... OMIM:619802
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Chédiak-Higashi Syndrome
Gingival bleeding, Epistaxis, Abnormality of neutrophil physiology, Abnormal bleeding, Bruising s... ORPHA:167
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Increased mean platelet volume OMIM:616737
Leukocyte Adhesion Deficiency
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome... ORPHA:2968
Acute Promyelocytic Leukemia
Gingival bleeding, Epistaxis, Diffuse alveolar hemorrhage, Abnormal bleeding, Bruising susceptibi... ORPHA:520
Dengue Fever
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hypotension, Diarrhea, Bruising suscep... ORPHA:99828
Immunodeficiency With Hyper-Igm, Type 5
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections OMIM:608106
Congenital Disorder Of Glycosylation, Type Iig
Anemia, Giant platelets, Thrombocytopenia OMIM:611209
Agammaglobulinemia 4, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections OMIM:613502
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... OMIM:614700
Atelis Syndrome 1
Eczematoid dermatitis, Leukopenia, Glue ear, Thrombocytopenia, Anemia, Bronchiectasis OMIM:620184
Relapsing Fever
Epistaxis, Abnormal bleeding, Leukopenia, Leukocytosis, Prolonged prothrombin time, Neutrophilia,... ORPHA:91547
Monosomy 13Q34
Hematochezia, Pulmonic stenosis, Epistaxis, Prolonged prothrombin time ORPHA:96168
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Epidural hemorrhage, Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after dental extr... ORPHA:465
Mhc Class Ii Deficiency 1
Recurrent upper respiratory tract infections, Recurrent viral infections, Chronic mucocutaneous c... OMIM:209920
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Dermatosparaxis Ehlers-Danlos Syndrome
Hiatus hernia, Gastroesophageal reflux, Esophagitis, Prolonged bleeding time ORPHA:1901
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... OMIM:618849
Isovaleric Acidemia
Bone marrow hypocellularity, Pancytopenia, Leukopenia, Cerebellar hemorrhage, Thrombocytopenia OMIM:243500
Ghosal Hematodiaphyseal Dysplasia
Bone marrow hypocellularity, Leukopenia, Refractory anemia, Thrombocytopenia OMIM:231095
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Petechiae, Reticulocytosis, Thrombocytopenia, Anemia OMIM:611490
Immunodeficiency 114, Folate-Responsive
Decreased circulating IgG level, Atopic dermatitis, Increased circulating IgE level, Lymphopenia,... OMIM:620603
Ménétrier Disease
Gastrointestinal hemorrhage, Diarrhea, Gastroesophageal reflux, Vomiting, Malnutrition, Stomach c... ORPHA:2494
Drug-Induced Lupus Erythematosus
Malar rash, Petechiae, Thrombocytopenia, Anemia, Pericarditis, Serositis ORPHA:231111
Mgat2-Cdg
Decreased circulating IgG level, Abnormal bleeding, Impaired lymphocyte transformation with phyto... ORPHA:79329
Aicardi-Goutieres Syndrome 5
Chilblains, Thrombocytopenia OMIM:612952
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Ileal atresia, Colonic atresia, Bloody diarrhea, Intestinal malrotation, Intestinal... OMIM:243150
Ganglioneuroma
Gastrointestinal hemorrhage, Abnormal rectum morphology, Episodic abdominal pain, Hamartomatous p... ORPHA:251992
Proteasome-Associated Autoinflammatory Syndrome 2
Recurrent viral infections, Anti-thyroglobulin antibody positivity, Anti-beta-2-Glycoprotein I Ig... OMIM:618048
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Decreased circulating IgG level, Hemophagocytosis, Agranulocytosis, ... OMIM:301078
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hematochezia, Protein-losing enteropathy, Diarrhea, Xerostomia, Vomiting, Gastrointestinal carcin... OMIM:175500
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Thrombocytopenia, Pancreatitis, Neutropenia ORPHA:289916
Neonatal Lupus Erythematosus
Abnormal bleeding, Aplastic anemia, Pancytopenia, Malar rash, Splenomegaly, Skin rash, Neutropeni... ORPHA:398124
Noonan Syndrome 12
Atopic dermatitis, Lymphopenia, Thrombocytopenia OMIM:618624
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Macrocytic anemia, Pancreatitis, Thrombocytopenia, Anemia ORPHA:27
Osteopetrosis, Autosomal Recessive 8
Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Amed Syndrome, Digenic
Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia OMIM:619151
Complement Factor I Deficiency
Vasculitis, Recurrent urinary tract infections, Recurrent otitis media, Recurrent sinusitis, Recu... OMIM:610984
Thrombocytopenia 6
Abnormal bleeding, Thrombocytopenia, Spontaneous, recurrent epistaxis OMIM:616937
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent mycobacterial infections, Recurrent viral infections, Chronic mucocutaneous candidiasis... ORPHA:911
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia ORPHA:67048
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
X-Linked Agammaglobulinemia
Recurrent pneumonia, Hepatitis, Conjunctivitis, Osteomyelitis, Skin rash, Agammaglobulinemia, Sin... ORPHA:47
Agammaglobulinemia 6, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Recurrent bronchitis, Recurrent bacterial infections OMIM:612692
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Autoimmunity, Recurrent f... ORPHA:169090
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Gamma-Heavy Chain Disease
Rheumatoid arthritis, Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, ... ORPHA:100026
Immunodeficiency, Common Variable, 1
Recurrent pneumonia, Recurrent otitis media, Recurrent bronchitis, Recurrent sinusitis, Neutropen... OMIM:607594
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Impaired memory B cell generation, Hepatitis, Abnormal circulati... OMIM:308230
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent Haemophilus influenzae infections, Recurrent bronchitis OMIM:300455
Vexas Syndrome
Arteritis, Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Macrocyti... OMIM:301054
Primary Familial Polycythemia
Epistaxis, Abnormal bleeding, Polycythemia, Abnormal hemoglobin ORPHA:90042
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia ORPHA:79312
Thrombotic Thrombocytopenic Purpura
Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia ORPHA:54057
Syndromic Diarrhea
Panhypogammaglobulinemia, Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Gastritis, Thrombo... ORPHA:84064
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Malabsorption, Abnormal bleeding ORPHA:79301
Specific Granule Deficiency 2
Recurrent pneumonia, Recurrent otitis media, Absent neutrophil specific granules, Thrombocytopeni... OMIM:617475
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent otitis media, Autoim... ORPHA:277
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Bone marrow hypocellularity, Abnormal bleeding, Leukocytosis, A... ORPHA:86839
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Recurrent mycobacterial infections, Invasive fungal infection, Chronic mucocutaneous candidiasis,... ORPHA:98813
Transaldolase Deficiency
Anemia, Hepatosplenomegaly, Thrombocytopenia ORPHA:101028
Hereditary Mixed Polyposis Syndrome
Hematochezia, Abnormal bleeding, Colon cancer, Adenomatous colonic polyposis, Duodenal adenocarci... ORPHA:157794
Multiple Endocrine Neoplasia Type 1
Peptic ulcer, Diarrhea, Gastroesophageal reflux, Vomiting, Shortened QT interval, Anorexia, Zolli... ORPHA:652
Aregenerative Anemia
Bone marrow hypocellularity, Abnormal bleeding, Bruising susceptibility, Pancytopenia, Decreased ... ORPHA:101096
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia ORPHA:2123
Portal Hypertension, Noncirrhotic, 2
Epistaxis, Petechiae, Splenomegaly, Ecchymosis, Thrombocytopenia OMIM:619463
Boutonneuse Fever
Leukopenia, Petechiae, Skin rash, Maculopapular exanthema, Thrombocytopenia, Increased circulatin... ORPHA:83313
Felty Syndrome
Bone marrow hypocellularity, Recurrent pneumonia, Abnormal lymphocyte morphology, Episcleritis, S... ORPHA:47612
Zika Virus Disease
Myelitis, Subcutaneous hemorrhage, Skin rash, Maculopapular exanthema, Infectious encephalitis, A... ORPHA:448237
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Abnormal T cell count, Lymphadenitis, Lymphopenia, Hepatosplenom... ORPHA:331206
Whim Syndrome 1
Recurrent bacterial infections, Recurrent upper respiratory tract infections OMIM:193670
Macs Syndrome
Recurrent aphthous stomatitis, Bruising susceptibility, Prolonged bleeding time OMIM:613075
Immunodeficiency, Common Variable, 6
Recurrent bacterial infections, Recurrent respiratory infections, Autoimmune thrombocytopenia OMIM:613496
Juvenile Polyposis Syndrome
Hematochezia, Diarrhea, Intussusception, Duodenal adenocarcinoma, Multiple gastric polyps, Abdomi... OMIM:174900
Aicardi-Goutieres Syndrome 4
Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia OMIM:610333
Fetal Cytomegalovirus Syndrome
Hepatitis, Splenomegaly, Petechiae, Anemia, Thrombocytopenia, Retinal hemorrhage ORPHA:294
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Recurrent tonsillitis,... ORPHA:183675
Prolidase Deficiency
Recurrent pneumonia, Eczematoid dermatitis, Splenomegaly, Petechiae, Increased circulating antibo... OMIM:170100
Complement Component 5 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:609536
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia OMIM:614727
Letterer-Siwe Disease
Hepatosplenomegaly, Seborrheic dermatitis, Neutropenia, Thrombocytopenia, Anemia, Stomatitis OMIM:246400
Adult Idiopathic Neutropenia
Recurrent bacterial infections, Helicobacter pylori infection, Recurrent infections, Recurrent fu... ORPHA:2688
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Bruising susceptibility, Reduced natural killer cell activity, Petechiae, Splen... ORPHA:540
Chronic Intestinal Pseudoobstruction
Abnormal platelet morphology ORPHA:2978
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Abnormal in... ORPHA:85446
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Abnormal bleeding, Hypersplenism, Leukopenia, Splenomegaly, Prolonge... ORPHA:64743
Immunodeficiency 22
Decreased circulating IgG level, Decreased circulating IgA level, Decreased proportion of CD4-pos... OMIM:615758
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Recurrent otitis media, Interstitial pneumonitis, Redu... OMIM:616433
Congenital Toxoplasmosis
Anemia, Thrombocytopenia ORPHA:858
Rhabdoid Tumor
Anemia, Internal hemorrhage, Thrombocytopenia ORPHA:69077
Babesiosis
Leukopenia, Hemolytic anemia, Splenomegaly, Thrombocytopenia ORPHA:108
Gaucher Disease, Type Iii
Pancytopenia, Splenomegaly, Thrombocytopenia OMIM:231000
Stormorken Syndrome
Epistaxis, Howell-Jolly bodies, Abnormal bleeding, Bruising susceptibility, Subarachnoid hemorrha... OMIM:185070
Trichohepatoenteric Syndrome 1
Decreased circulating antibody level, Thrombocytosis, Splenomegaly, Increased mean platelet volume OMIM:222470
Immunodeficiency 10
Recurrent pneumonia, Sepsis, Recurrent urinary tract infections, Recurrent otitis media, Autoimmu... OMIM:612783
Moyamoya Disease 6 With Or Without Achalasia
Thrombocytopenia OMIM:615750
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Thrombocytopenia ORPHA:49827
Cyclic Neutropenia
Periodontitis, Lymphopenia, Cyclic neutropenia, Otitis media, Peritonitis, Enterocolitis, Periana... ORPHA:2686
Osteopetrosis, Autosomal Recessive 2
Mandibular osteomyelitis, Extramedullary hematopoiesis, Osteomyelitis, Hepatosplenomegaly, Pancyt... OMIM:259710
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Incre... ORPHA:98850
Typhoid
Epistaxis, Gastrointestinal hemorrhage, Diarrhea, Arrhythmia, Abdominal pain, Constipation, Cardi... ORPHA:99745
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Kasabach-Merritt Phenomenon
Microangiopathic hemolytic anemia, Leukopenia, Petechiae, Reticulocytosis, Neutropenia, Prolonged... ORPHA:2330
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Splenomegaly, Skin rash, Increased circulating antibody level, Myositis, Sinusitis, ... OMIM:617591
Hereditary Folate Malabsorption
Cheilitis, Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Decreased circulat... ORPHA:90045
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Sepsis, Chronic mucocutaneous candidiasis, Severe recurrent varicella, Recurrent cutaneous fungal... ORPHA:276
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Aplastic anemia, Petechiae, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia, Purpura OMIM:605432
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections OMIM:606843
Congenital Enterovirus Infection
Abnormal bleeding, Hepatitis, Leukopenia, Leukocytosis, Abnormal macrophage morphology, Skin rash... ORPHA:292
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Recurrent pneumonia, Hemophagocytosis, Pulmonary hemorrhage, Hepatosplenomegaly, Th... OMIM:619644
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia OMIM:613839
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Thrombocytopenia, Thiamine-responsive megaloblastic anemia OMIM:249270
Pseudo-Torch Syndrome 3
Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Cerebral hemorrhage, Anemia OMIM:618886
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Pancytopenia, Leukope... OMIM:603553
Purine Nucleoside Phosphorylase Deficiency
Recurrent upper respiratory tract infections, Recurrent viral infections, Cerebral vasculitis, Re... OMIM:613179
Congenital Rubella Syndrome
Anemia, Skin rash, Splenomegaly, Thrombocytopenia ORPHA:290
Burkitt Lymphoma
Abdominal pain, Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction ORPHA:543
Omenn Syndrome
Pneumonia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Erythroderma, Thrombocyt... OMIM:603554
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Braddock-Carey Syndrome 2
Thrombocytopenia OMIM:619981
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Retinitis Pigmentosa And Erythrocytic Microcytosis
Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ... OMIM:616959
Immunodeficiency 7
Recurrent otitis media, Autoimmunity, Autoimmune hemolytic anemia, Severe varicella zoster infect... OMIM:615387
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Persistent CMV viremia, Recurrent urinary tract infections, Recurrent otitis media, Autoimmunity,... OMIM:618495
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Pericarditis, Abnormal hemoglobin ORPHA:163596
Propionic Acidemia
Eczematoid dermatitis, Pancytopenia, Cerebellar hemorrhage, Pancreatitis, Thrombocytopenia, Neutr... OMIM:606054
Autosomal Dominant Severe Congenital Neutropenia
Antineutrophil antibody positivity, Recurrent viral infections, Recurrent infection of the gastro... ORPHA:486
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thrombocytopenia, Increased mean platelet volume ORPHA:487796
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Bone marrow hypocellularity, Gastrointestinal hemorrhage, Retinal telangiectasia, Portal hyperten... OMIM:617341
Alpha-Thalassemia
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... ORPHA:846
Good Syndrome
Recurrent skin infections, Abnormal leukocyte morphology, Thrombocytopenia, Sinusitis, Anemia, De... ORPHA:169105
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomega... ORPHA:158057
Desmoid Tumor
Gastrointestinal hemorrhage, Malabsorption, Intestinal polyposis, Intestinal obstruction, Desmoid... ORPHA:873
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Leukopenia, Splenomegaly, Infectious encephalitis, Prolonged prothrombin time, ... OMIM:267700
Holocarboxylase Synthetase Deficiency
Perioral eczema, Keratoconjunctivitis, Eczematoid dermatitis, Thrombocytopenia ORPHA:79242
Cog8-Cdg
Prolonged prothrombin time, Protein-losing enteropathy, Spontaneous hematomas ORPHA:95428
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Bone marrow hypocellularity, Hepatosplenomegaly, Thrombocytopenia ORPHA:210136
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ... OMIM:617021
Immunodeficiency 36 With Lymphoproliferation
Persistent CMV viremia, Recurrent upper respiratory tract infections, Autoimmunity, Recurrent bac... OMIM:616005
Macrophage Activation Syndrome
Hemophagocytosis, Hepatitis, Splenomegaly, Increased inflammatory response, Neutropenia, Thromboc... ORPHA:158061
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Abnormal bleeding, Lymphopenia, Interstitial pneumonitis, T... ORPHA:454831
Stt3B-Cdg
Thrombocytopenia ORPHA:370924
Fetal Gaucher Disease
Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Intracranial hemorrhage ORPHA:85212
Dyskeratosis Congenita, Autosomal Recessive 2
Bone marrow hypocellularity, Pancytopenia, Thrombocytopenia OMIM:613987
Wilson Disease
Bruising susceptibility, Hepatitis, Acute hepatitis, Splenomegaly, Thrombocytopenia, Arthritis, A... ORPHA:905
Hellp Syndrome
Microangiopathic hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Internal ... ORPHA:244242
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... OMIM:300946
Hyperimmunoglobulinemia D With Periodic Fever
Vasculitis, Gastrointestinal hemorrhage, Diarrhea, Recurrent aphthous stomatitis, Intestinal obst... ORPHA:343
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hashimoto thyroiditis, Leukocytosis, Thrombocytopenia ORPHA:83601
Snakebite Envenomation
Gingival bleeding, Epistaxis, Abnormal bleeding, Ecchymosis, Thrombocytopenia, Intracranial hemor... ORPHA:449285
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia OMIM:615597
Noonan Syndrome 9
Pulmonic stenosis, Prolonged prothrombin time OMIM:616559
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Sepsis, Autoimmunity, Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic ... ORPHA:231154
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Ziegler-Huang Syndrome
Bone marrow hypocellularity, Neutropenia, Macrocytic anemia, Persistence of hemoglobin F OMIM:620501
Immunodeficiency 115 With Autoinflammation
Recurrent bacterial infections, Recurrent viral infections, Candida esophagitis OMIM:620632
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:612926
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Cholecystitis, Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia OMIM:620367
Mpi-Cdg
Protein-losing enteropathy, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Decreased liver func... ORPHA:79319
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Arrhythmia, Systolic heart murmur, Right ventricular failure, Tricuspid reg... ORPHA:99103
Blue Rubber Bleb Nevus
Intestinal bleeding, Iron deficiency anemia, Thrombocytopenia OMIM:112200
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Atopic dermatitis, Thrombocytopenia, Hypochromic microcytic anemia ORPHA:3240
Bullous Pemphigoid
Recurrent infections, Autoimmunity, Anti-BP230 antibody positivity, Anti-BP180 antibody positivity ORPHA:703
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections OMIM:202700
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Leukopenia, Splenomegaly, Thrombocytopenia, Abnormality o... ORPHA:381
Gaucher Disease, Type I
Epistaxis, Pancytopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia OMIM:230800
Chediak-Higashi Syndrome
Periodontitis, Hemophagocytosis, Bruising susceptibility, Leukopenia, Giant neutrophil granules, ... OMIM:214500
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Acute hepatic fail... ORPHA:99901
Sengers Syndrome
Thrombocytopenia OMIM:212350
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:612925
Polymyositis
Vasculitis, Gastrointestinal hemorrhage, Abnormal atrioventricular conduction, Dilated cardiomyop... ORPHA:732
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Neoplasm of the colon, Nausea and vomiting, Esophageal neoplasm, Int... ORPHA:44890
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Cerebellar hemorrhage, Pancreatitis, Thrombocytopenia, Neutropenia, Tubulointerstitia... OMIM:251000
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Anemia, Lymphopenia, Thrombocytopenia OMIM:620365
Liver Failure, Infantile, Transient
Decreased circulating IgG level, Vomiting, Acute hepatic failure, Feeding difficulties in infancy... OMIM:613070
Specific Granule Deficiency 1
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections OMIM:245480
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Gastrointestinal hemorrhage, Vomiting, Gastrointestinal carcinoma, Neopla... ORPHA:2869
Congenital Bile Acid Synthesis Defect Type 4
Hematochezia ORPHA:79095
Idiopathic Bronchiectasis
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections, Myocar... ORPHA:60033
Pemphigus Vulgaris
Autoimmunity, Anti-desmoglein-1 antibody positivity, Anti-desmoglein-3 antibody positivity, Recur... ORPHA:704
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Bruising susceptibility, Arrhythmia ORPHA:230839
Postinfectious Vasculitis
Recurrent mycobacterial infections, Invasive fungal infection, Severe viral infection, Cerebral v... ORPHA:48435
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Thrombocytopenia OMIM:616577
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:614520
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Chronic mucocutaneous candidiasis, Panhypogammaglobulinem... ORPHA:79124
Bacterial Toxic-Shock Syndrome
Pneumonia, Hepatitis, Fasciitis, Osteomyelitis, Infectious encephalitis, Skin rash, Ecchymosis, I... ORPHA:36234
Shwachman-Diamond Syndrome 2
Normocytic anemia, Thrombocytopenia, Neutropenia, Prolonged prothrombin time OMIM:617941
3-Methylglutaconic Aciduria, Type Viib
Recurrent pneumonia, Abnormal bleeding, Leukopenia, Neutropenia, Thrombocytopenia, Prolonged prot... OMIM:616271
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Inflammation of the large intestine, Dilated cardiomyopathy, Cardiomyopathy, Conges... OMIM:615895
Leukocyte Adhesion Deficiency, Type I
Chronic mucocutaneous candidiasis, Recurrent gram-negative bacterial infections, Recurrent bacter... OMIM:116920
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Bundle branch block, Transient ischemic attack, Palpitations, Abnormal... ORPHA:99104
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Lymphopenia, Leukopenia, Neutropenia, Schistocytosis, Anemia, Thrombocytopenia, Hemolytic anemia OMIM:301110
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent enteroviral infections, Enteroviral dermatomyositis syndrome, Recurrent otitis media, P... OMIM:307200
Immunodeficiency 23
Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Molluscum contagiosum, Vascu... OMIM:615816
Pediatric Systemic Lupus Erythematosus
Discoid lupus rash, Nephritis, Microangiopathic hemolytic anemia, Lymphopenia, Leukopenia, Malar ... ORPHA:93552
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Abdominal pai... ORPHA:97286
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Gastrointestinal infarctions, Malabsorption, ... ORPHA:131
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... OMIM:233710
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Abnormal bleeding, Decreased specific anti-polysaccharide an... OMIM:614576
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Reticulocytosis, Schistocytosis, Thrombocytopenia, Purpura OMIM:235400
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Epistaxis, Sepsis OMIM:612840
Polycythemia Vera
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Early satiety, Pulmonary embolism, Bru... ORPHA:729
Maternal Uniparental Disomy Of Chromosome 6
Eczematoid dermatitis, Thrombocytopenia ORPHA:96181
Noonan Syndrome
Abnormal bleeding, Bruising susceptibility, Abnormal EKG, Hypertrophic cardiomyopathy, Arrhythmia... ORPHA:648
Juvenile Polyposis Syndrome
Abnormal onset of bleeding, Diarrhea, Colon cancer, Stomach cancer, Juvenile gastrointestinal pol... ORPHA:2929
Beemer-Ertbruggen Syndrome
Thrombocytopenia ORPHA:1237
Lig4 Syndrome
Pancytopenia, Psoriasiform dermatitis, Chronic sinusitis, Thrombocytopenia, Acute lymphoblastic l... OMIM:606593
Cog4-Cdg
Hepatosplenomegaly, Thrombocytopenia ORPHA:263501
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi... OMIM:264800
Congenital Syphilis
Pneumonia, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Petechiae, Synovitis, Pan... ORPHA:499009
Extracranial Carotid Artery Aneurysm
Vasculitis, Arteritis, Opportunistic infection, Autoimmunity, Cerebral ischemia, Subarachnoid hem... ORPHA:494424
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Thrombocytopenia, Normochromic anemia, Neutropenia OMIM:614857
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatic failure, Dilated cardiomyopathy, Decreased liver function, Congestive heart failure, Port... ORPHA:367
Diffuse Alveolar Hemorrhage
Anemia, Leukocytosis, Thrombocytopenia ORPHA:90060
Hypocomplementemic Urticarial Vasculitis
Recurrent bacterial infections, Meningitis, Autoimmunity, Small vessel vasculitis ORPHA:36412
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Anemia, Pancytopenia, Leukopenia, Thrombocytopenia OMIM:613845
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Bone marrow hypocellularity, Eczematoid dermatitis, Lymphopenia, Leukopenia, Reticulocytopenia, B... ORPHA:508542
Gaucher Disease Type 1
Gingival bleeding, Splenic infarction, Abnormal bleeding, Bruising susceptibility, Hepatosplenome... ORPHA:77259
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Severe varicella zoster infection, Recurrent viral infections, Autoimmune hemolytic anemia, Recur... OMIM:606367
Q Fever
Pneumonia, Hepatitis, Osteomyelitis, Hepatosplenomegaly, Splenomegaly, Cholecystitis, Increased c... ORPHA:781
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... OMIM:233690
Avian Influenza
Pneumonia, Myelitis, Hepatitis, Lymphopenia, Leukopenia, Infectious encephalitis, Thrombocytopeni... ORPHA:454836
Inhalational Anthrax
Hypotension, Vomiting, Internal hemorrhage ORPHA:247257
Microscopic Polyangiitis
Epistaxis, Gastrointestinal hemorrhage, Vasculitis, Diarrhea, Congestive heart failure, Subcutane... ORPHA:727
Pgm3-Cdg
Recurrent pneumonia, Recurrent viral infections, Sepsis, Recurrent respiratory infections, Autoim... ORPHA:443811
Celiac Disease, Susceptibility To, 1
Eczematoid dermatitis, Decreased circulating IgA level, Recurrent aphthous stomatitis, Macrocytic... OMIM:212750
Diarrhea 10, Protein-Losing Enteropathy Type
Hematochezia, Protein-losing enteropathy, Secretory diarrhea, Decreased circulating antibody leve... OMIM:618183
Cholestasis, Progressive Familial Intrahepatic, 5
Hepatic failure, Prolonged prothrombin time OMIM:617049
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Hematochezia, Increased circulating IgE level, Paralytic ileus, Increased circulating IgA level, ... OMIM:620565
Osteopetrosis, Autosomal Recessive 1
Osteomyelitis, Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia OMIM:259700
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Vomiting, Chronic constipation, Abdominal pain, Chronic diarrhea OMIM:142680
Classical Ehlers-Danlos Syndrome
Gastroesophageal reflux, Vomiting, Bruising susceptibility, Arterial rupture, Mitral regurgitatio... ORPHA:287
Thymoma
Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Myositis, Glomerulonephri... ORPHA:99867
Dyskeratosis Congenita, Autosomal Dominant 1
Bone marrow hypocellularity, Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leu... OMIM:127550
Mevalonic Aciduria
Fluctuating splenomegaly, Morbilliform rash, Hepatosplenomegaly, Leukocytosis, Skin rash, Thrombo... OMIM:610377
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Hematochezia, Vasculitis, Diarrhea, Hypertrophic cardiomyopathy, Increased ci... OMIM:615846
Cholestasis-Lymphedema Syndrome
Nausea and vomiting, Gastrointestinal hemorrhage, Portal hypertension, Abdominal pain ORPHA:1414
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Gastrointestinal carcinoma, Hematochezia, Mitral regurgitation, Juvenile gastrointesti... OMIM:175050
Wolfram Syndrome 1
Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia OMIM:222300
Hoyeraal-Hreidarsson Syndrome
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Abnormal leukocyte morphology ORPHA:3322
Mirage Syndrome
Aspiration pneumonia, Lymphopenia, Leukopenia, Petechiae, Thrombocytopenia, Anemia, Intracranial ... OMIM:617053
Yellow Fever
Diarrhea, Abnormal bleeding, Vomiting, Shock, Reduced left ventricular ejection fraction, Excessi... ORPHA:99829
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Skin rash, Megaloblastic anemia, Thrombocytopenia, Neutropenia, Anemia, Stomatitis OMIM:277380
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Recurrent enteroviral infections, Recurrent otitis media, Recurrent sinusiti... OMIM:601495
Pseudohypoparathyroidism Type 1A
Prolonged QT interval, Abdominal symptom, Abnormal platelet function, Hypertension ORPHA:79443
Congenital Disorder Of Glycosylation, Type Ih
Anemia, Thrombocytopenia OMIM:608104
Thrombotic Thrombocytopenic Purpura, Hereditary
Schistocytosis, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia OMIM:274150
Zollinger-Ellison Syndrome
Hematochezia, Gastrointestinal hemorrhage, Diarrhea, Peptic ulcer, Esophagitis, Intestinal obstru... ORPHA:913
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Neutropenia, T... ORPHA:158048
Shigellosis
Pneumonia, Microangiopathic hemolytic anemia, Ulcerative colitis, Leukocytosis, Peritonitis, Sple... ORPHA:810
Kaposiform Lymphangiomatosis
Epistaxis, Abnormal bleeding, Bruising susceptibility, Hepatosplenomegaly, Splenomegaly, Ecchymos... ORPHA:464329
Dyskeratosis Congenita, Autosomal Dominant 3
Bone marrow hypocellularity, Gastrointestinal hemorrhage, Aplastic anemia, Pancytopenia, Leukopen... OMIM:613990
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Diarrhea, Gastroesophageal reflux, Vomiting, Decreased liver functio... ORPHA:85450
Cryoglobulinemic Vasculitis
Vasculitis, Gastrointestinal hemorrhage, Gastrointestinal infarctions, Petechiae, Abdominal pain,... ORPHA:91138
Transaldolase Deficiency
Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia OMIM:606003
Sandifer Syndrome
Gastroesophageal reflux, Esophagitis, Hiatus hernia, Hematemesis, Episodic vomiting, Feeding diff... ORPHA:71272
Brucellosis
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Purpura,... ORPHA:1304
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Prolonged prothrombin time OMIM:618641
Fanconi Anemia, Complementation Group E
Bruising susceptibility, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, ... OMIM:600901
Pseudo-Torch Syndrome 2
Petechiae, Thrombocytopenia, Cerebral hemorrhage OMIM:617397
Immunodeficiency 67
Meningitis, Recurrent streptococcal infections, Recurrent staphylococcal infections OMIM:607676
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Pemphigus Erythematosus
Antinuclear antibody positivity, Autoimmunity, Anti-acetylcholine receptor antibody positivity, S... ORPHA:79480
Catastrophic Antiphospholipid Syndrome
Microangiopathic hemolytic anemia, Coombs-positive hemolytic anemia, Thrombocytopenia, Arthritis,... ORPHA:464343
Tafro Syndrome
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytopenia, Anemia ORPHA:457077
20Q13.33 Microdeletion Syndrome
Hematochezia ORPHA:261311
Diffuse Cutaneous Mastocytosis
Hypotension, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Malnutrition, Abdominal pain ORPHA:79456
Bartter Syndrome, Type 2, Antenatal
Impaired platelet aggregation OMIM:241200
Bone Marrow Failure Syndrome 3
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Eczematoid derma... OMIM:617052
Lujo Hemorrhagic Fever
Lymphopenia, Leukopenia, Leukocytosis, Excessive bleeding after a venipuncture, Skin rash, Ecchym... ORPHA:319213
Hypermethioninemia Due To Adenosine Kinase Deficiency
Pulmonic stenosis, Prolonged prothrombin time OMIM:614300
Shwachman-Diamond Syndrome
Normocytic anemia, Bone marrow hypocellularity, Pneumonia, Aplastic anemia, Increased mean corpus... ORPHA:811
Dyskeratosis Congenita, Autosomal Dominant 2
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Leukopenia, Thrombocytopenia, Neutrop... OMIM:613989
Congenital Bile Acid Synthesis Defect Type 2
Steatorrhea, Hepatic failure, Fat malabsorption, Prolonged prothrombin time ORPHA:79303
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Diarrhea, Dilated cardiomyopathy, Vomiting, Hypertrophic cardiomyopathy, Acute hepatic failure, F... ORPHA:71212
Marburg Hemorrhagic Fever
Diarrhea, Excessive bleeding after a venipuncture, Increased circulating antibody level, Anorexia... ORPHA:99826
Sepsis In Premature Infants
Abnormal bleeding, Leukocytosis, Petechiae, Splenomegaly, Enterocolitis, Neutropenia, Thrombocyto... ORPHA:90051
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Punctate vasculitis skin lesions, Telangiectasia, Raynaud phenomenon... OMIM:192315
Sialuria
Episodic abdominal pain, Prolonged prothrombin time ORPHA:3166
Schimke Immuno-Osseous Dysplasia
Bone marrow hypocellularity, Minimal change glomerulonephritis, Abnormal proportion of naive CD4 ... ORPHA:1830
Fanconi Anemia, Complementation Group A
Bruising susceptibility, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, ... OMIM:227650
Braddock-Carey Syndrome 1
Thrombocytopenia OMIM:619980
Aicardi-Goutieres Syndrome 1
Splenomegaly, Chilblains, Petechiae, Thrombocytopenia, Purpura OMIM:225750
Immunodeficiency 21
Recurrent fungal infections, Recurrent viral infections, Recurrent mycobacterium avium complex in... OMIM:614172
Preeclampsia
Thrombocytopenia ORPHA:275555
Mucopolysaccharidosis-Plus Syndrome
Bone marrow hypocellularity, Nephritis, Recurrent pneumonia, Leukopenia, Splenomegaly, Thrombocyt... OMIM:617303
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Thrombocytopenia OMIM:617710
Cholesteryl Ester Storage Disease
Hepatosplenomegaly, Leukopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia, Bone-marro... OMIM:278000
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,... OMIM:260400
Al Amyloidosis
Gastrointestinal hemorrhage, Xerostomia, Bruising susceptibility, Postural hypotension with compe... ORPHA:85443
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Otitis media, Erythroid hypoplasia, Hy... OMIM:612541
Pseudo-Torch Syndrome 1
Splenomegaly, Petechiae, Thrombocytopenia OMIM:251290
Waldenström Macroglobulinemia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Monoclonal immunoglobulin M proteinemi... ORPHA:33226
Smith-Kingsmore Syndrome
Decreased circulating IgA level, Thrombocytopenia OMIM:616638
Simple Cryoglobulinemia
Vasculitis, Gastrointestinal hemorrhage, Monoclonal immunoglobulin M proteinemia, Congestive hear... ORPHA:91139
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, H... ORPHA:391487
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Abnormal bleeding, Thrombocytopenia OMIM:208085
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Arteritis, Intestinal fistula, Gastrointestinal infarctions, Ischemi... ORPHA:679
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Inflammation of the large intestine, Spider hemangioma, Increased ci... ORPHA:2137
Schimke Immunoosseous Dysplasia
Lymphopenia, Pancytopenia, Abnormal T cell morphology, Abnormal immunoglobulin level, Thrombocyto... OMIM:242900
Holocarboxylase Synthetase Deficiency
Skin rash, Thrombocytopenia OMIM:253270
Methylmalonic Aciduria, Cblb Type
Anemia, Pancytopenia, Thrombocytopenia, Neutropenia OMIM:251110
Mitochondrial Complex I Deficiency, Nuclear Type 20
Thrombocytopenia OMIM:611126
Carney Triad
Gastrointestinal hemorrhage, Diarrhea, Nausea and vomiting, Arrhythmia, Abdominal pain, Gastroint... ORPHA:139411
Alg8-Cdg
Anemia, Thrombocytopenia ORPHA:79325
Immunodeficiency 12
Recurrent bacterial infections, Recurrent lower respiratory tract infections, Recurrent viral inf... OMIM:615468
Overlap Myositis
Leukopenia, Rheumatoid arthritis, Arthritis, Thrombocytopenia ORPHA:206572
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, HbH hemoglobin, Bruising susceptibility ORPHA:98791
Pediatric-Onset Graves Disease
Keratitis, Episcleritis, Splenomegaly, Thrombocytopenia, Neutropenia in presence of anti-neutropi... ORPHA:525731
Fanconi Anemia, Complementation Group C
Bone marrow hypocellularity, Bruising susceptibility, Pancytopenia, Anemia, Reticulocytopenia, Ne... OMIM:227645
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Abnormality of thrombocytes, Bruising su... ORPHA:758
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Primary Sjögren Syndrome
Arteritis, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Increased circulatin... ORPHA:289390
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Leukocytosis, Reticulocytosis, Peritonitis, Pancreatitis, Schi... ORPHA:90038
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Methylmalonic Aciduria, Cbla Type
Anemia, Pancytopenia, Thrombocytopenia, Neutropenia OMIM:251100
Necrotizing Enterocolitis
Peritonitis, Thrombocytopenia, Leukocytosis, Neutropenia ORPHA:391673
Immunodeficiency 87 And Autoimmunity
Anticardiolipin IgG antibody positivity, Recurrent viral infections, Sepsis, Third degree atriove... OMIM:619573
Combined Oxidative Phosphorylation Deficiency 14
Anemia, Thrombocytopenia OMIM:614946
Fanconi Anemia, Complementation Group F
Pneumonia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Anemia OMIM:603467
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Thrombocytopenia, Normochromic anemia OMIM:618775
Dyskeratosis Congenita, Autosomal Recessive 1
Bone marrow hypocellularity, Pancytopenia, Aplastic anemia, Thrombocytopenia OMIM:224230
Noonan Syndrome 4
Abnormal bleeding, Bruising susceptibility, Thrombocytopenia OMIM:610733
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Punctate keratitis, Refractory sideroblastic anemia, Reticulo... OMIM:557000
Pseudoxanthoma Elasticum, Forme Fruste
Retinal hemorrhage, Angina pectoris, Gastrointestinal hemorrhage, Cerebral hemorrhage OMIM:177850
Cardiac-Urogenital Syndrome
Intestinal malrotation, Tachycardia, Prolonged bleeding time OMIM:618280
Recon Progeroid Syndrome
Anemia, Keratoconjunctivitis sicca, Thrombocytopenia OMIM:620370
Congenital Disorder Of Glycosylation, Type It
Aborted sudden cardiac death, Dilated cardiomyopathy, Vomiting, Pulmonary arterial hypertension, ... OMIM:614921
Gaucher Disease, Type Ii
Anemia, Recurrent aspiration pneumonia, Splenomegaly, Thrombocytopenia OMIM:230900
Alg12-Cdg
Recurrent pneumonia, Abnormal circulating IgM level, Complete or near-complete absence of specifi... ORPHA:79324
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Recurrent pneumonia, Recurrent viral infections, Chronic mucocutaneous candidiasis, Autoimmune he... OMIM:102700
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Abdominal pain, Vomiting, Protein avoidance, Prolonged prothrombin time OMIM:311250
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Decreased mean corpuscular volume OMIM:616943
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla... ORPHA:231222
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hematochezia, Feeding difficulties, Chronic constipation OMIM:619575
Granulomatous Disease, Chronic, X-Linked
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... OMIM:306400
Neuroblastoma
Anemia, Abnormal bleeding, Thrombocytopenia ORPHA:635
Whipple Disease
Hypotension, Gastrointestinal hemorrhage, Diarrhea, Malabsorption, Anorexia, Myocarditis, Abdomin... ORPHA:3452
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Eczematoid dermatitis, Hepatosplenomegaly, Thrombocytosis, ... ORPHA:3260
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231226
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Autoinflammatory Disease, Systemic, With Vasculitis
Atopic dermatitis, Conjunctivitis, Parotitis, Hepatosplenomegaly, Decreased circulating IgA level... OMIM:620376
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Chronic otitis media, Thrombocytopenia ORPHA:261250
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Pancreatitis, Thrombocytopenia, Anemia, Conjunctivitis, Abnormality ... ORPHA:36426
Juvenile Dermatomyositis
Vasculitis, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Angina pectoris, Ar... ORPHA:93672
Ivic Syndrome
Leukocytosis, Thrombocytopenia ORPHA:2307
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Splenomegaly, Petechiae, Thrombocytopenia, Anemia, Purpura OMIM:608013
Congenital Erythropoietic Porphyria
Seborrhoeic blepharitis, Abnormal bleeding, Leukopenia, Erythroid hyperplasia, Reticulocytosis, S... ORPHA:79277
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia, Conjunctivitis ORPHA:537
3-Hydroxy-3-Methylglutaric Aciduria
Leukopenia, Leukocytosis, Prolonged prothrombin time, Thrombocytosis, Anemia, Acute pancreatitis ORPHA:20
S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy, Prolonged prothrombin time, Hepatocellular carcinoma ORPHA:88618
Combined Oxidative Phosphorylation Deficiency 37
Hypertrophic cardiomyopathy, Feeding difficulties, Decreased liver function, Prolonged prothrombi... OMIM:618329
Alport Syndrome 1, X-Linked
Nephritis, Thrombocytopenia OMIM:301050
Acute Liver Failure
Gastrointestinal hemorrhage, Hypotension, Abnormal bleeding, Bruising susceptibility, Diarrhea, V... ORPHA:90062
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intraventricular hemorrhage, Feeding difficulties, Prolonged prothrombin time OMIM:619055
Immunodeficiency 47
Accessory spleen, Normocytic anemia, Decreased circulating total IgG, Chronic decreased circulati... OMIM:300972
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Diarrhea, Vomiting, Cardiomyopathy, Decreased circulating IgA le... OMIM:212065
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Gastrointestinal hemorrhage, Gastroesophageal reflux, Congestive heart fai... ORPHA:363705
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Leukopenia, Thrombocytopenia OMIM:301056
Lead Poisoning
Imbalanced hemoglobin synthesis, Increased circulating IgE level, Skin rash, Abnormal T cell morp... ORPHA:330015
Diamond-Blackfan Anemia 21
Erythroid hypoplasia, Anemia, Thrombocytopenia OMIM:620072
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Hypoc... OMIM:259720
Hermansky-Pudlak Syndrome
Epistaxis, Gastrointestinal hemorrhage, Abnormality of thrombocytes, Abnormal bleeding, Bruising ... ORPHA:79430
Lysinuric Protein Intolerance
Hemophagocytosis, Leukopenia, Pulmonary hemorrhage, Splenomegaly, Pancreatitis, Thrombocytopenia,... OMIM:222700
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Leukopenia, Thrombocytopenia ORPHA:974
Bcard Syndrome
Bruising susceptibility, Thrombocytopenia OMIM:612394
Fanconi Anemia, Complementation Group B
Aplastic anemia, Thrombocytopenia OMIM:300514
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Neoplasm of the colon, Stomach cancer, Nausea and vomiting, Malabsor... ORPHA:440437
Ectodermal Dysplasia And Immunodeficiency 1
Molluscum contagiosum, Severe cytomegalovirus infection, Recurrent bacterial infections OMIM:300291
Systemic Lupus Erythematosus
Discoid lupus rash, Leukopenia, Malar rash, Lupus nephritis, Thrombocytopenia, Arthritis, Cheilit... ORPHA:536
Mogs-Cdg
Decreased circulating IgG level, Hepatosplenomegaly, Decreased circulating IgA level, Thrombocyto... ORPHA:79330
Castleman Disease
Anemia, Decreased mean corpuscular volume, Thrombocytopenia ORPHA:160
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent viral infections, Recurrent urinary tract infections, Recurrent fungal infections, Recu... ORPHA:221139
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Gastrointestinal hemorrhage, Diarrhea, Abnormal bleeding, Prolonged prothrombin time, Decreased c... ORPHA:247598
Nijmegen Breakage Syndrome
Recurrent pneumonia, Recurrent otitis media, Autoimmune hemolytic anemia, Dysgammaglobulinemia, S... OMIM:251260
21Q22.11Q22.12 Microdeletion Syndrome
Anemia, Recurrent otitis media, Thrombocytopenia ORPHA:261323
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231214
Ppoma
Gastrointestinal hemorrhage, Diarrhea, Lack of bowel sounds, Hypoactive bowel sounds, Nausea and ... ORPHA:97278
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Thrombocytopenia, Normochromic anemia OMIM:254900
Lathosterolosis
Abnormal platelet morphology, Thrombocytopenia, Anisopoikilocytosis ORPHA:46059
Farber Disease
Anemia, Hepatosplenomegaly, Arthritis, Thrombocytopenia ORPHA:333
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Recurrent otitis media, Lymphopenia, Pancytopenia, Leukopenia, Thrombocytopenia, Anemia OMIM:620654
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Cardiomyopathy, Punctate vasculitis skin lesions, Telangiectasia, Re... ORPHA:247691
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections OMIM:244460
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Recurrent pneumonia, Persistence of hemoglobin F OMIM:619769
Fanconi Anemia, Complementation Group D2
Bone marrow hypocellularity, Bruising susceptibility, Pancytopenia, Anemia, Reticulocytopenia, Ne... OMIM:227646
Combined Oxidative Phosphorylation Deficiency 55
Anemia, Thrombocytopenia OMIM:619743
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
Atelis Syndrome 2
Anemia, Vitreous hemorrhage, Thrombocytopenia OMIM:620185
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:105650
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Anemia, Bone marrow hypocellularity, Intestinal bleeding, Thrombocytopenia OMIM:612199
Congenital Disorder Of Glycosylation, Type Iiw
Microcytic anemia, Recurrent otitis media, Splenomegaly, Prolonged prothrombin time, Thrombocytop... OMIM:619525
Hereditary Hemorrhagic Telangiectasia
Nasal mucosa telangiectasia, Telangiectasia, Esophageal varix, Retinal telangiectasia, Gastrointe... ORPHA:774
Vici Syndrome
Recurrent viral infections, Dilated cardiomyopathy, Chronic mucocutaneous candidiasis, Cardiomyop... OMIM:242840
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Insulin-Resistance Syndrome Type B
Pneumonia, Nephritis, Leukopenia, Skin rash, Increased circulating IgA level, Thrombocytopenia, O... ORPHA:2298
Porphyria, Congenital Erythropoietic
Splenomegaly, Thrombocytopenia, Reduced erythrocyte uroporphyrinogen III cosynthase activity, Con... OMIM:263700
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Thrombocytopenia ORPHA:457351
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Gastrointestinal hemorrhage, Pulmonary embolism, Subcutaneous hemorrhage, Cerebral ischemia, Anor... ORPHA:394
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Bone marrow hypocellularity, Decreased circulating IgG level, Hepatosplenomegaly, Leukopenia, Thr... ORPHA:505248
Somatostatinoma
Gastrointestinal hemorrhage, Diarrhea, Lack of bowel sounds, Nausea and vomiting, Intestinal obst... ORPHA:97283
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections OMIM:241410
Grfoma
Gastrointestinal hemorrhage, Diarrhea, Lack of bowel sounds, Hypoactive bowel sounds, Nausea and ... ORPHA:97261
Immunoglobulin A Vasculitis
Vasculitis, Gastrointestinal hemorrhage, Bruising susceptibility, Gastrointestinal infarctions, N... ORPHA:761
Gaucher Disease Type 3
Pancytopenia, Splenomegaly, Increased circulating antibody level, Thrombocytopenia, Anemia ORPHA:77261
Thrombocytopenia-Absent Radius Syndrome
Thrombocytopenia ORPHA:3320
Chromomycosis
Recurrent bacterial infections ORPHA:182
Kikuchi-Fujimoto Disease
Leukopenia, Malar rash, Splenomegaly, Skin rash, Pustule, Myocarditis, Lymphocytosis, Neutropenia... ORPHA:50918
Tangier Disease
Anemia, Hepatosplenomegaly, Thrombocytopenia ORPHA:31150
Wars2-Related Combined Oxidative Phosphorylation Defect
Thrombocytopenia ORPHA:572798
Ivic Syndrome
Leukocytosis, Thrombocytopenia OMIM:147750
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Splenomegaly, Thrombocytopenia OMIM:251880
Isolated Biliary Atresia
Decreased liver function, Fat malabsorption, Prolonged prothrombin time ORPHA:30391
Dyskeratosis Congenita
Bone marrow hypocellularity, Periodontitis, Splenomegaly, Thrombocytopenia, Anemia, Abnormality o... ORPHA:1775
Leptospirosis
Uveitis, Hepatitis, Pulmonary hemorrhage, Skin rash, Optic neuritis, Thrombocytopenia, Retinal he... ORPHA:509
Down Syndrome
Polycythemia, Acute megakaryocytic leukemia, Thrombocytopenia, Neutrophilia, Leukemia, Blepharitis ORPHA:870
Glucagonoma
Gastrointestinal hemorrhage, Diarrhea, Lack of bowel sounds, Abnormal gastrointestinal motility, ... ORPHA:97280
Primary Sclerosing Cholangitis
Spider hemangioma, Palmar telangiectasia, Celiac disease, Congestive heart failure, Acute hepatic... ORPHA:171
Lysinuric Protein Intolerance
Abnormal bleeding, Hemophagocytosis, Leukopenia, Hepatosplenomegaly, Increased circulating antibo... ORPHA:470
Granulomatosis With Polyangiitis
Epistaxis, Gastrointestinal hemorrhage, Vasculitis, Recurrent intrapulmonary hemorrhage, Cerebral... ORPHA:900
Primary Ciliary Dyskinesia
Recurrent otitis media, Recurrent mycobacterial infections, Recurrent sinopulmonary infections ORPHA:244
Tick-Borne Encephalitis
Myelitis, Leukopenia, Leukocytosis, Thrombocytopenia, Increased circulating IgG level, Increased ... ORPHA:297
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Lymphopenia, Decreas... OMIM:620005
Sickle Cell Disease
Recurrent bacterial infections, Hypertension OMIM:603903
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Thrombocytopenia OMIM:619005
Patent Urachus
Recurrent gram-negative bacterial infections, Recurrent urinary tract infections ORPHA:431341
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Seborrheic dermatitis, Splenomegaly, Thrombocytopenia, Aspiration pneumonia OMIM:301072
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Leukocytosis, Pancreatitis, Thrombocytopenia, Myocarditis, Septic arthritis, Hemolytic... ORPHA:544482
Gaucher Disease
Gingival bleeding, Splenic infarction, Abnormal bleeding, Hepatitis, Osteomyelitis, Pancytopenia,... ORPHA:355
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgG4 level, Myositis, Increased circulating IgA level, Keratoconjunctivitis... ORPHA:79078
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Subdural hemorrhage, Megaloblastic anemia, Thrombocytopenia, Neutropenia, Stomatitis ORPHA:79282
Whim Syndrome
Recurrent upper respiratory tract infections, Sepsis, Recurrent pneumonia, Recurrent bacterial in... ORPHA:51636
Dubowitz Syndrome
Eczematoid dermatitis, Thrombocytopenia, Anemia, Abnormality of neutrophils, Acute lymphoblastic ... ORPHA:235
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections OMIM:248500
Nijmegen Breakage Syndrome
Recurrent pneumonia, Acute leukemia, Autoimmune hemolytic anemia, Thrombocytopenia, Hemolytic anemia ORPHA:647
Proteasome-Associated Autoinflammatory Syndrome 1
Parotitis, Microcytic anemia, Recurrent otitis media, Episcleritis, Splenomegaly, Recurrent sinus... OMIM:256040
Paroxysmal Nocturnal Hemoglobinuria
Pancytopenia, Leukopenia, Erythroid hyperplasia, Reticulocytosis, Abnormal erythrocyte enzyme con... ORPHA:447
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin, Infectious encephalitis ORPHA:847
Abetalipoproteinemia
Abnormal bleeding, Acanthocytosis, Reticulocytosis, Keratoconjunctivitis sicca, Prolonged prothro... ORPHA:14
Neuroleptic Malignant Syndrome
Aspiration pneumonia, Leukocytosis, Thrombocytopenia, Thrombocytosis ORPHA:94093
Superficial Siderosis
Vomiting, Abnormal bleeding, Subarachnoid hemorrhage, Persistent bleeding after trauma, Internal ... ORPHA:247245
Wolfram Syndrome
Gastrointestinal hemorrhage, Cardiomyopathy, Malabsorption, Feeding difficulties in infancy, Cons... ORPHA:3463
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Splenomegaly, Polycythemia, Prolonged prothrombin time ORPHA:309854
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Thrombocytopenia, Megaloblastic anemia, Neutropenia OMIM:277400
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Bacterial endocarditis, Abnormality of the spleen, Hepatosplenomegaly, Pancytopenia, Splenomegaly... ORPHA:2072
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Intracranial hemorrhage, Thrombocytopenia ORPHA:163979
Dyskeratosis Congenita, X-Linked
Bone marrow hypocellularity, Pancytopenia, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, ... OMIM:305000
Thrombocytopenia-Absent Radius Syndrome
Prolonged bleeding following circumcision, Hepatosplenomegaly, Leukocytosis, Eosinophilia, Seborr... OMIM:274000
Multiple Mitochondrial Dysfunctions Syndrome 7
Thrombocytopenia OMIM:620423
Fibular Hemimelia
Thrombocytopenia ORPHA:93323
Cystic Fibrosis
Recurrent respiratory infections, Recurrent Aspergillus infections, Recurrent Burkholderia cepaci... ORPHA:586
Osteopetrosis With Renal Tubular Acidosis
Bone marrow hypocellularity, Pancytopenia, Leukopenia, Thrombocytopenia, Elliptocytosis, Anemia ORPHA:2785
Chronic Visceral Acid Sphingomyelinase Deficiency
Abnormal bleeding, Hypersplenism, Interstitial pneumonitis, Splenomegaly, Thrombocytopenia, Acute... ORPHA:77293
Glycogen Storage Disease Ib
Recurrent bacterial infections, Hypertension OMIM:232220
Cornelia De Lange Syndrome 1
Pneumonia, Otitis media, Thrombocytopenia OMIM:122470
Behçet Disease
Aortic regurgitation, Vasculitis, Gastrointestinal hemorrhage, Pulmonary embolism, Recurrent apht... ORPHA:117
Lynch Syndrome
Gastrointestinal hemorrhage, Neoplasm of the stomach, Malabsorption, Nausea and vomiting, Intesti... ORPHA:144
Pearson Syndrome
Bone marrow hypocellularity, Pancytopenia, Reticulocytosis, Splenomegaly, Neutropenia, Thrombocyt... ORPHA:699
Reynolds Syndrome
Gastrointestinal hemorrhage, Palmar telangiectasia, Raynaud phenomenon, Lip telangiectasia, Steat... OMIM:613471
Deeah Syndrome
Decreased hemoglobin concentration, Thrombocytopenia OMIM:619004
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Wilson Disease
Splenomegaly, Atypical or prolonged hepatitis, Thrombocytopenia, Osteoarthritis, Anemia, Hemolyti... OMIM:277900
Pachydermoperiostosis
Peptic ulcer, Gastrointestinal hemorrhage, Malabsorption ORPHA:2796
22Q11.2 Deletion Syndrome
Acne, Gastrointestinal hemorrhage, Abnormality of thrombocytes, Impaired T cell function, Splenom... ORPHA:567
Menkes Disease
Gastrointestinal hemorrhage, Spontaneous hematomas, Malabsorption, Nausea and vomiting, Feeding d... ORPHA:565
Jacobsen Syndrome
Thrombocytopenia OMIM:147791
Sarcoidosis
Bronchiectasis, Parotitis, Leukopenia, Increased T cell count, Eosinophilia, Keratoconjunctivitis... ORPHA:797
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Recurrent pneumonia, Hepatosplenomegaly, Hypersplenism, Splenomegaly... ORPHA:731
Jacobsen Syndrome
Bone marrow hypocellularity, Eczematoid dermatitis, Thrombocytopenia ORPHA:2308
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Hepatosplenomegaly, Chilblains, Chronic lymphatic leukemia,... ORPHA:51
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Impaired oral bolus formation, Corneal neovascularization, Chronic constipation, Prolonged prothr... ORPHA:404454
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Recurrent bacterial infections, Epistaxis, Hypertension, Pulmonary venous hypertension ORPHA:79259
Hardikar Syndrome
Hepatosplenomegaly, Hypersplenism, Pyelonephritis, Splenomegaly, Hematemesis, Thrombocytopenia, C... OMIM:301068
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Arterial rupture, Gastrointestinal hemorrhage, Bruising susceptibility, Congestive heart failure OMIM:225400
Oculocerebrorenal Syndrome Of Lowe
Periodontitis, Arthritis, Thrombocytopenia, Anemia, Cheilitis, Chronic otitis media ORPHA:534
Ogden Syndrome
Eczematoid dermatitis, Polycythemia, Recurrent otitis media, Iron deficiency anemia, Thrombocytop... OMIM:300855
Fanconi Anemia
Anemia, Leukopenia, Thrombocytopenia, Pyridoxine-responsive sideroblastic anemia ORPHA:84
Digeorge Syndrome
Recurrent pneumonia, Impaired T cell function, Recurrent otitis media, Splenomegaly, Recurrent si... OMIM:188400
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Vomiting, Malnutrition, Nausea, Abdominal pain OMIM:229600
Exercise-Induced Malignant Hyperthermia
Abnormal bleeding, Thrombocytopenia ORPHA:466650
Plague
Hypotension, Inflammation of the large intestine, Abnormal bleeding, Diarrhea, Vomiting, Ileitis,... ORPHA:707
Roberts Syndrome
Thrombocytopenia ORPHA:3103
Liver Disease, Severe Congenital
Pneumonia, Eczematoid dermatitis, Recurrent otitis media, Chronic gastritis, Leukopenia, Splenome... OMIM:619991
Alkaptonuria
Methemoglobinemia, Prostatitis, Osteoarthritis, Arthritis, Hemolytic anemia ORPHA:56
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent pneumonia, Recurrent upper respiratory tract infections, Chronic mucocutaneous candidia... OMIM:147060
Osteogenesis Imperfecta
Osteoarthritis, Bruising susceptibility, Thrombocytopenia, Cerebral hemorrhage ORPHA:666
Lymphangioleiomyomatosis
Abdominal pain, Gastrointestinal hemorrhage ORPHA:538
Noonan Syndrome 1
Abnormal bleeding, Juvenile myelomonocytic leukemia, Bruising susceptibility, Synovitis, Amegakar... OMIM:163950
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent bacterial infections, Recurrent infections, Recurrent respiratory infections ORPHA:2273
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Gastroesophageal reflux, Exocrine pancreatic insufficiency, Feeding ... ORPHA:508488
Tuberous Sclerosis Complex
Hypertension, Internal hemorrhage ORPHA:805
Vascular Ehlers-Danlos Syndrome
Abnormal bleeding, Bruising susceptibility, Gastrointestinal infarctions, Transient ischemic atta... ORPHA:286
Hereditary Sensory And Autonomic Neuropathy Type 4
Orthostatic hypotension due to autonomic dysfunction, Recurrent Staphylococcus aureus infections,... 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

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter