Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
Von Willebrand factor
Synonyms:
6820430P06Rik,  B130011O06Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Vwf mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Vwf by orthology or direct annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time, Abnormal bleeding OMIM:314560
Athrombia, Essential
Impaired platelet aggregation, Prolonged bleeding time, Abnormal bleeding, Impaired platelet adhe... OMIM:209050
Tatsumi Factor Deficiency
Prolonged bleeding time, Abnormal bleeding OMIM:272650
Thrombocytopenia 7
Post-partum hemorrhage, Impaired ADP-induced platelet aggregation, Impaired collagen-induced plat... OMIM:619130
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impa... OMIM:619271
Von Willebrand Disease, Platelet-Type
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Glanzmann Thrombasthenia 2
Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, D... OMIM:619267
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal h... ORPHA:231393
Platelet Glycoprotein Iv Deficiency
Prolonged bleeding time, Thrombocytopenia, Giant platelets, Abnormal bleeding OMIM:608404
Bleeding Disorder, Platelet-Type, 25
Excessive bleeding from superficial cuts, Post-partum hemorrhage, Spontaneous, recurrent epistaxi... OMIM:620486
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Abnormal bleeding, Giant platelets, Anemia, Impaired platelet aggregation,... OMIM:187800
Thrombocytopenia 9
Abnormal bleeding, Thrombocytopenia, Abnormal platelet aggregation OMIM:620478
Bleeding Disorder, Platelet-Type, 18
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Men... OMIM:615888
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Post-partum hemorrhage, Menorrhagia, Thrombocytopenia, Macrothromb... OMIM:124900
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre... OMIM:615193
Bleeding Disorder, Platelet-Type, 22
Gastrointestinal hemorrhage, Excessive bleeding from superficial cuts, Impaired ADP-induced plate... OMIM:618462
Platelet Signal Processing Defect
Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platel... OMIM:173590
Bernard-Soulier Syndrome
Purpura, Abnormal bleeding, Giant platelets, Gastrointestinal hemorrhage, Gingival bleeding, Meno... OMIM:231200
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Purpura, Impaired epinephrine-induced platelet aggregation, Impaired... OMIM:273800
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Neutrophil inclusion bodies, Giant platelets, Impaired epinephrine-induced pla... OMIM:155100
Bleeding Disorder, Platelet-Type, 11
Abnormal platelet count, Impaired collagen-induced platelet aggregation, Menorrhagia, Epistaxis, ... OMIM:614201
Bleeding Disorder, Platelet-Type, 21
Abnormal bleeding, Impaired platelet aggregation, Eczematoid dermatitis, Impaired ADP-induced pla... OMIM:617443
Thrombocytopenia With Beta-Thalassemia, X-Linked
Petechiae, Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thro... OMIM:314050
Thrombocythemia 1
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp... OMIM:187950
Glanzmann Thrombasthenia
Spontaneous hematomas, Purpura, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Gi... ORPHA:849
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Abnormal platelet count, Impaired thromboxane A2 agonist-induced platelet aggregation, Ecchymosis... OMIM:614009
Platelet Disorder, Undefined
Impaired platelet aggregation, Prolonged bleeding time, Abnormal bleeding, Thrombocytopenia OMIM:173420
Slc35A1-Cdg
Abnormal bleeding, Giant platelets, Abnormal platelet granules, Subcutaneous hemorrhage, Thromboc... ORPHA:238459
Bleeding Disorder, Platelet-Type, 8
Abnormal bleeding, Impaired ADP-induced platelet aggregation, Ecchymosis, Epistaxis, Persistent b... OMIM:609821
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia, Bruising susceptibility, Prolonge... OMIM:137560
Factor V Deficiency
Prolonged prothrombin time, Abnormal bleeding, Menorrhagia, Epistaxis, Bruising susceptibility, P... OMIM:227400
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Petechiae, Gingival bleeding, Impaired ADP-induced platelet aggregation, Hemolytic anemia, Increa... OMIM:153670
Von Willebrand Disease, Type 3
Abnormal bleeding, Impaired platelet aggregation, Menorrhagia, Joint hemorrhage, Thrombocytopenia... OMIM:277480
Immune Thrombocytopenia
Abnormal bleeding, Thrombocytopenia OMIM:188030
Prothrombin Deficiency, Congenital
Prolonged prothrombin time, Gastrointestinal hemorrhage, Gingival bleeding, Menorrhagia, Joint he... OMIM:613679
Immunodeficiency 34
BCGosis, Pulmonary tuberculosis, Recurrent mycobacterial infections OMIM:300645
Myh9-Related Disease
Neutrophil inclusion bodies, Giant platelets, Spontaneous, recurrent epistaxis, Increased mean pl... ORPHA:182050
Hemophilia B
Prolonged prothrombin time, Hematemesis, Gastrointestinal hemorrhage, Melena, Petechiae, Joint he... OMIM:306900
Bleeding Disorder, Platelet-Type, 17
Abnormal bleeding, Gastrointestinal hemorrhage, Impaired epinephrine-induced platelet aggregation... OMIM:187900
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Gray Platelet Syndrome
Abnormal bleeding, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granu... OMIM:139090
Hermansky-Pudlak Syndrome 9
Recurrent skin infections, Thrombocytopenia, Leukopenia, Abnormal platelet aggregation OMIM:614171
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Abdominal pain, Fundic gland polyposis, Melena, Gastric adenocarcinoma OMIM:619182
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Quebec Platelet Disorder
Impaired epinephrine-induced platelet aggregation, Menorrhagia, Joint hemorrhage, Thrombocytopeni... OMIM:601709
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Impaired platelet aggregation, Gastrointestinal angiodysplasia, Aort... OMIM:193400
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis, Prolonged bleeding time, Abnormal bleeding, Thrombocytopenia OMIM:188025
Mannose-Binding Lectin Deficiency
Recurrent Klebsiella infections, Recurrent herpes, Disseminated cryptosporidium infection, Recurr... OMIM:614372
Bleeding Disorder, Platelet-Type, 12
Impaired platelet aggregation, Menorrhagia, Joint hemorrhage, Epistaxis, Intestinal bleeding, Bru... OMIM:605735
Fetal And Neonatal Alloimmune Thrombocytopenia
Spontaneous hematomas, Abnormal bleeding, Gastrointestinal hemorrhage, Purpura, Melena, Cephalohe... ORPHA:853
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Bleeding Disorder, Platelet-Type, 9
Bruising susceptibility, Thrombocytopenia OMIM:614200
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia ORPHA:494444
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent viral infections, Recurrent protozoan infections, Recurrent bacterial infections OMIM:308220
Bernard-Soulier Syndrome
Hematemesis, Spontaneous hematomas, Gastrointestinal hemorrhage, Abnormal bleeding, Giant platele... ORPHA:274
Hermansky-Pudlak Syndrome 7
Impaired platelet aggregation, Post-partum hemorrhage, Menorrhagia, Epistaxis, Bruising susceptib... OMIM:614076
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Bone marrow hypocellularity, El... OMIM:300835
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Antinuclear antibody positivity, Recurrent bacterial infections OMIM:613495
Hemophilia B
Cephalohematoma, Spontaneous, recurrent epistaxis, Delayed onset bleeding, Joint hemorrhage, Intr... ORPHA:98879
Acquired Von Willebrand Syndrome
Prolonged prothrombin time, Gastrointestinal hemorrhage, Melena, Aortic regurgitation, Hypotensio... ORPHA:99147
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Purpura, Acute myeloid leukemia, Abnormal dense granule content, Impaired platelet aggregation, P... OMIM:601399
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Hemophilia A
Hematemesis, Purpura, Melena, Muscle hemorrhage, Petechiae, Gingival bleeding, Joint hemorrhage, ... OMIM:306700
Hermansky-Pudlak Syndrome 3
Abnormal bleeding, Impaired platelet aggregation, Spontaneous, recurrent epistaxis, Gingival blee... OMIM:614072
Storage Pool Platelet Disease
Decreased mean platelet volume, Prolonged bleeding time, Abnormal bleeding, Acute leukemia OMIM:185050
Bleeding Disorder, Platelet-Type, 19
Spontaneous hematomas, Abnormal bleeding, Anemia, Menorrhagia, Thrombocytopenia, Epistaxis, Macro... OMIM:616176
Blue Rubber Bleb Nevus
Prolonged bleeding time, Volvulus, Gastrointestinal infarctions, Intestinal bleeding ORPHA:1059
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Decreased pro... OMIM:619374
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat... ORPHA:2585
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent staphylococcal infections, Recurrent streptococcus pneumoniae infections, Recurrent bac... ORPHA:70592
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Complement Component 8 Deficiency, Type I
Meningitis, Systemic lupus erythematosus OMIM:613790
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Thrombocytopenia 2
Abnormal platelet shape, Leukocytosis, Thrombocytopenia, Bruising susceptibility, Abnormal platel... OMIM:188000
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neuroendocrine Tumor Of The Rectum
Anorexia, Bowel urgency, Melena, Abdominal pain, Hypoactive bowel sounds, Bloody diarrhea, Lack o... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Anorexia, Bowel urgency, Melena, Abdominal pain, Hypoactive bowel sounds, Bloody diarrhea, Lack o... ORPHA:100082
Sitosterolemia 1
Abnormal bleeding, Chronic hemolytic anemia, Giant platelets, Anemia, Impaired platelet aggregati... OMIM:210250
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Menorrhagia, Thrombocy... OMIM:614074
Congenital Factor V Deficiency
Spontaneous hematomas, Gastrointestinal hemorrhage, Post-partum hemorrhage, Gingival bleeding, Pr... ORPHA:326
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Myelolymphatic Insufficiency
Recurrent viral infections, Recurrent bacterial infections OMIM:310350
Von Willebrand Disease
Gastrointestinal hemorrhage, Muscle hemorrhage, Petechiae, Abnormal platelet function, Menorrhagi... ORPHA:903
Immunodeficiency 38 With Basal Ganglia Calcification
Severe viral infection, BCGitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:616126
Congenital Factor Vii Deficiency
Prolonged prothrombin time, Gastrointestinal hemorrhage, Post-partum hemorrhage, Gingival bleedin... ORPHA:327
Neuroendocrine Tumor Of The Colon
Anorexia, Bowel urgency, Melena, Abdominal pain, Hypoactive bowel sounds, Bloody diarrhea, Lack o... ORPHA:100080
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections OMIM:242870
Neurofibromatosis-Noonan Syndrome
Pulmonic stenosis, Prolonged bleeding time, Dysphagia, Hypertrophic cardiomyopathy ORPHA:638
Essential Thrombocythemia
Acute leukemia, Abnormal bleeding, Thrombocytosis, Leukocytosis, Abnormal platelet morphology, Sp... ORPHA:3318
Immunodeficiency 31A
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... OMIM:614892
Familial Hypofibrinogenemia
Abnormal bleeding, Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage ORPHA:101041
Familial Dysfibrinogenemia
Abnormal bleeding, Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage ORPHA:98881
Immunodeficiency 35
Recurrent fungal infections, Recurrent viral infections, Recurrent mycobacterial infections, Recu... OMIM:611521
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent pneumonia, Recurrent bacterial infections, Recurrent tonsillitis, Systemic lupus erythe... OMIM:613779
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Abnormal bleeding, Melena, Increased circulating antibody level, Dia... ORPHA:319218
Congenital Factor X Deficiency
Prolonged prothrombin time, Spontaneous hematomas, Gastrointestinal hemorrhage, Post-partum hemor... ORPHA:328
Gray Platelet Syndrome
Abnormal bleeding, Thrombocytopenia, Splenomegaly, Epistaxis, Bruising susceptibility, Abnormalit... ORPHA:721
Amegakaryocytic Thrombocytopenia, Congenital, 1
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia OMIM:604498
C1Q Deficiency 1
Recurrent infections, Autoimmunity, Systemic lupus erythematosus OMIM:613652
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Thrombocytopenia 10
Abnormal bleeding, Decreased mean platelet volume, Petechiae, Spontaneous, recurrent epistaxis, M... OMIM:620484
Ficolin 3 Deficiency
Recurrent abscess formation, Recurrent Staphylococcus aureus infections, Recurrent lower respirat... OMIM:613860
Neuroendocrine Tumor Of Stomach
Hematemesis, Intermittent diarrhea, Anorexia, Bowel urgency, Melena, Bloody diarrhea, Lack of bow... ORPHA:100075
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Congenital Factor Ii Deficiency
Prolonged prothrombin time, Abnormal bleeding, Cephalohematoma, Excessive bleeding from superfici... ORPHA:325
Immunoglobulin A Deficiency 1
Recurrent infections, Autoimmunity, Recurrent respiratory infections, Recurrent infection of the ... OMIM:137100
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Pouchitis
Bowel urgency, Diarrhea, Abdominal pain, Bowel incontinence, Clostridium difficile colitis, Abdom... ORPHA:217067
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent respiratory infections, Recurrent otitis media, Recurrent bacterial infections OMIM:616022
Factor X Deficiency
Prolonged prothrombin time, Gingival bleeding, Menorrhagia, Joint hemorrhage, Epistaxis, Intracra... OMIM:227600
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematemesis, Gastrointestinal hemorrhage, Muscle hemorrhage, Melena, Abnormal gastrointestinal tr... ORPHA:464321
Factor Vii And Factor Viii, Combined Deficiency Of
Intestinal bleeding OMIM:134430
Bleeding Disorder, Platelet-Type, 20
Bruising susceptibility, Menorrhagia, Thrombocytopenia, Epistaxis OMIM:616913
Von Willebrand Disease, Type 2
Bruising susceptibility, Menorrhagia, Thrombocytopenia, Epistaxis OMIM:613554
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Roch-Leri Mesosomatous Lipomatosis
Purpura, Thrombocytopenia ORPHA:529
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Decreased proportion of CD8-positive T cells, Eczematoid dermatit... OMIM:614493
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Abnormal bleeding, Thrombocytopenia, Splenomegaly, Bruising susce... ORPHA:231401
Thrombocytopenia 1
Decreased mean platelet volume, Petechiae, Increased circulating IgE level, Increased circulating... OMIM:313900
Wiskott-Aldrich Syndrome
Hematemesis, Small vessel vasculitis, Chronic diarrhea, Epistaxis, Petechiae, Inflammation of the... OMIM:301000
Refractory Anemia
Normocytic anemia, Abnormal bleeding, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemi... ORPHA:98826
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia, Abnormal bleeding, Glomerulonephritis OMIM:314000
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Chronic otitis media, Abnormal neutrophil count, Myeloproliferative disorder, Leu... ORPHA:3226
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Hermansky-Pudlak Syndrome 11
Gingival bleeding, Impaired collagen-induced platelet aggregation, Menorrhagia, Epistaxis, Bruisi... OMIM:619172
Inflammatory Bowel Disease 11
Diarrhea, Abdominal pain, Hematochezia, Inflammation of the large intestine OMIM:191390
Combined Deficiency Of Factor V And Factor Viii
Prolonged prothrombin time, Gastrointestinal hemorrhage, Gingival bleeding, Prolonged bleeding fo... ORPHA:35909
Acute Myelomonocytic Leukemia
Abnormal bleeding, Anemia, Leukocytosis, Thrombocytopenia, Eosinophilia ORPHA:517
Thrombocytopenia 3
Decreased mean platelet volume, Petechiae, Thrombocytopenia, Epistaxis OMIM:273900
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Eosinophilia, Familial
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia OMIM:131400
Erythroleukemia, Familial, Susceptibility To
Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplasia, Leukemia OMIM:133180
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Immunodeficiency 116
Recurrent viral infections, Recurrent bacterial infections, Recurrent respiratory infections OMIM:608957
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Pulmonary hemorrhage... OMIM:603585
Hermansky-Pudlak Syndrome 1
Abdominal pain, Gingival bleeding, Cardiomyopathy, Inflammation of the large intestine, Ecchymosi... OMIM:203300
Pelger-Huet Anomaly
Recurrent otitis media, Giant platelets, Hyposegmentation of neutrophil nuclei, Eczematoid dermat... OMIM:169400
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Immunodeficiency 51
Chronic oral candidiasis, Recurrent otitis media, Recurrent Staphylococcus aureus infections, Rec... OMIM:613953
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, Petechiae, B Acute Lymphoblastic Leukemia, Thrombocyto... OMIM:616216
Solitary Rectal Ulcer Syndrome
Intermittent diarrhea, Rectal prolapse, Abdominal pain, Bloody diarrhea, Episodic abdominal pain,... ORPHA:209964
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent Klebsiella infections, Recurrent candida infections, BCGosis, Coccidioidomycosis, Vascu... ORPHA:319552
Bilateral Striopallidodentate Calcinosis
Subcutaneous hemorrhage, Thrombocytopenia ORPHA:1980
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
Bone Marrow Failure Syndrome 2
Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Anemia OMIM:615715
Klippel-Trénaunay Syndrome
Congestive heart failure, Gastrointestinal hemorrhage, Internal hemorrhage, Prolonged bleeding ti... ORPHA:90308
Cap Polyposis
Abdominal distention, Colorectal polyposis, Diarrhea, Abdominal pain, Constipation, Hematochezia,... ORPHA:160148
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic... ORPHA:67044
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased mean platelet volume, Thrombocytopenia OMIM:300048
Congenital Dyserythropoietic Anemia Type Iii
Post-partum hemorrhage, Oral cavity bleeding, Gingival bleeding, Melena ORPHA:98870
Immune Thrombocytopenia
Purpura, Gastrointestinal hemorrhage, Petechiae, Gingival bleeding, Thrombocytopenia, Epistaxis, ... ORPHA:3002
Immunoglobulin A Deficiency 2
Autoimmunity, Recurrent infection of the gastrointestinal tract, Recurrent sinopulmonary infections OMIM:609529
Vascular Hyalinosis
Protein-losing enteropathy, Diarrhea, Hematochezia, Subarachnoid hemorrhage, Malabsorption OMIM:277175
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Recurrent infection of the gastrointestinal tract, Recurrent upper r... OMIM:608184
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Masp2 Deficiency
Recurrent pneumonia, Systemic lupus erythematosus OMIM:613791
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Monocytosis, Thrombocytopenia, Anemia, Neutropenia OMIM:620534
Wiskott-Aldrich Syndrome
Chronic otitis media, Hematemesis, Spontaneous hematomas, Abnormal platelet function, Sinusitis, ... ORPHA:906
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Impaired platelet adhesion, Diarrhea, Oral cavity bleeding, Vomiting... ORPHA:324636
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Chronic oral candidiasis, Recurrent otitis media, Periodontitis, ... OMIM:608233
Systemic Lupus Erythematosus 16
Anti-dsDNA antibody positivity, Antinuclear antibody positivity, Perinuclear antineutrophil antib... OMIM:614420
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding OMIM:600195
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Petechiae, Anemia of inadequate production, Poikilocytosis, Epistaxis, Persistent bleeding after ... OMIM:300367
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Abnormal bleeding, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, ... ORPHA:75564
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Gastrointestinal hemorrhage, Abnormal esophagus physiology, Gastroesophageal... ORPHA:2198
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Chronic oral candidiasis, Hashimoto thyroiditis, Recurrent viral infections, Recurrent upper and ... ORPHA:275
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Anemia, Increased circulating antibody level, Thrombocytopenia, Splenomegaly, Leukopenia, Extrame... OMIM:615285
Immunodeficiency 61
Recurrent sinusitis, Recurrent respiratory infections, Recurrent otitis media, Recurrent bacteria... OMIM:300310
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Immunodeficiency 46
Chronic oral candidiasis, Anemia, Decreased circulating antibody level, Intermittent thrombocytop... OMIM:616740
Beta-Thalassemia, Dominant Inclusion Body Type
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc... OMIM:603902
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Abnormal bleeding, Decreased circulating antibody... OMIM:604928
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Anemia, Leukemia, Neutropenia OMIM:614082
Congenital Factor Xi Deficiency
Abnormal bleeding, Gastrointestinal hemorrhage, Menorrhagia, Joint hemorrhage, Epistaxis, Prolong... ORPHA:329
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Impaired platelet aggregation, Iron deficiency anemia OMIM:618372
Crimean-Congo Hemorrhagic Fever
Hematemesis, Spontaneous hematomas, Bradycardia, Hypertension, Epistaxis, Nausea and vomiting, Di... ORPHA:99827
Tyrosinemia, Type I
Prolonged prothrombin time, Gastrointestinal hemorrhage, Melena, Episodic vomiting, Hepatocellula... OMIM:276700
Juvenile Polyposis Of Infancy
Abnormal bleeding, Gastrointestinal hemorrhage, Rectal prolapse, Melena, Protein-losing enteropat... ORPHA:79076
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Polycythemia Vera
Gastrointestinal hemorrhage, Increased red blood cell mass, Leukocytosis, Increased circulating h... OMIM:263300
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Chilblains, Hepatosplenomegaly OMIM:610329
Transcobalamin Deficiency
Pancytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop... ORPHA:859
Bile Acid Synthesis Defect, Congenital, 4
Prolonged prothrombin time, Hematochezia, Fat malabsorption, Hepatic failure OMIM:214950
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Decreased circulating antibody level, Recurrent pneumonia, Thrombocy... OMIM:616576
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Prolonged prothrombin time, Abnormal bleeding, Epistaxis OMIM:610842
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Bone Marrow Failure Syndrome 4
Anemia, Decreased circulating antibody level, Eczematoid dermatitis, Bone marrow hypocellularity,... OMIM:618116
Hemorrhagic Fever-Renal Syndrome
Hematemesis, Melena, Tachycardia, Petechiae, Abdominal pain, Capillary leak, Hypertension, Diarrh... ORPHA:340
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Sepsis, Recurrent lower respiratory tract infections, Persistent EBV... OMIM:614868
Inflammatory Bowel Disease 28, Autosomal Recessive
Crohn's disease, Hematochezia, Enterocolitis, Colitis OMIM:613148
Angioma, Hereditary Neurocutaneous
Gastrointestinal hemorrhage OMIM:106070
Rift Valley Fever
Hematemesis, Anorexia, Abnormal bleeding, Melena, Increased circulating IgG level, Gingival bleed... ORPHA:319251
Agammaglobulinemia 2, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Recurrent respiratory infections, Meningitis, Recurr... OMIM:613500
Immunodeficiency, Common Variable, 4
Recurrent sinusitis, Recurrent pneumonia, Recurrent bacterial infections OMIM:613494
Hemophagocytic Lymphohistiocytosis, Familial, 4
Anemia, Hemophagocytosis, Skin rash, Thrombocytopenia, Splenomegaly, Conjunctivitis, Neutropenia OMIM:603552
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Platelet anisocytosis, Increased mean platelet volume, Thrombocytopenia OMIM:620475
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Skin rash, Lymphopenia, Thrombocytopenia, Anterior uveitis, Hemolytic anemia, Colitis OMIM:616744
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Thrombocytope... ORPHA:169079
Systemic Lupus Erythematosus 17
Myelitis, Malar rash, Optic neuritis, Thrombocytopenia, Leukopenia, Lymphopenia, Autoimmune throm... OMIM:301080
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Immunodeficiency With Hyper-Igm, Type 2
Recurrent upper and lower respiratory tract infections, Recurrent infection of the gastrointestin... OMIM:605258
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Hemophagocytosis, Decreased circulating antibody level, Abnormal natural killer cell phys... OMIM:613101
Dentinogenesis Imperfecta
Prolonged bleeding time, Bruising susceptibility ORPHA:49042
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
Anemia, Pancytopenia, Reticulocytopenia, Gingival bleeding, Retinal hemorrhage, Bone marrow hypoc... ORPHA:88
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Acquired Purpura Fulminans
Prolonged prothrombin time, Shock, Macular purpura, Internal hemorrhage, Thrombocytopenia, Intrac... ORPHA:49566
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Malaria
Thrombocytopenia, Anemia ORPHA:673
Systemic Lupus Erythematosus
Malar rash, Arthritis, Pericarditis, Nephritis, Thrombocytopenia, Leukopenia, Hemolytic anemia, L... OMIM:152700
Nephrotic Syndrome, Type 7
Membranoproliferative glomerulonephritis, Thrombocytopenia, Hemolytic anemia OMIM:615008
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Aicardi-Goutieres Syndrome 6
Thrombocytopenia, Splenomegaly, Hemolytic anemia, Chilblains OMIM:615010
Isolated Agammaglobulinemia
Pneumonia, Anemia, Inflammatory abnormality of the eye, Arthritis, Skin rash, Abnormal lymphocyte... ORPHA:229717
Ataxia-Pancytopenia Syndrome
Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro... OMIM:159550
Complement Factor B Deficiency
Recurrent meningococcal disease, Meningitis, Recurrent bacterial infections OMIM:615561
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:620481
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Hermansky-Pudlak Syndrome 6
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Impaired collagen-indu... OMIM:614075
Mixed Connective Tissue Disease
Myocarditis, Gastrointestinal hemorrhage, Purpura, Keratoconjunctivitis sicca, Gastritis, Myositi... ORPHA:809
Hermansky-Pudlak Syndrome 8
Excessive bleeding from superficial cuts, Impaired platelet aggregation, Gingival bleeding, Menor... OMIM:614077
Congenital Fibrinogen Deficiency
Prolonged prothrombin time, Abnormal bleeding, Abdominal pain, Gingival bleeding, Internal hemorr... ORPHA:335
Fanconi Anemia, Complementation Group T
Anemia, Acute myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:616435
Zygomycosis
Hematemesis, Myocarditis, Gastrointestinal hemorrhage, Gastritis, Melena, Diarrhea, Abdominal pai... 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
Prolonged prothrombin time, Steatorrhea, Diarrhea, Hematochezia, Hepatic failure OMIM:613812
Thyrocerebrorenal Syndrome
Nephritis, Thrombocytopenia ORPHA:3327
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Prolonged prothrombin time, Abnormal bleeding, Joint hemorrhage, Epistaxis, Cerebral hemorrhage, ... OMIM:277450
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bronchitis, Recurrent otitis media, Recurrent lower respiratory tract infections, Recur... OMIM:613501
Congenital Enterocyte Heparan Sulfate Deficiency
Diarrhea, Abdominal distention, Protein-losing enteropathy, Hematochezia ORPHA:103910
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Splenomegaly, Thrombocytopenia, Anemia OMIM:617441
Caroli Syndrome
Hematemesis, Abnormal bleeding, Melena, Abdominal rigidity, Abdominal pain, Esophageal varix, Por... ORPHA:480520
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly OMIM:607616
Telangiectasia, Hereditary Hemorrhagic, Type 2
Hematemesis, Tongue telangiectasia, Nail bed telangiectasia, Spontaneous, recurrent epistaxis, Na... OMIM:600376
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Lymphocytosis, Skin rash, Inflammation of the large intestine, Bl... OMIM:617718
Immunodeficiency, Common Variable, 2
Recurrent otitis media, Recurrent bronchitis, Recurrent sinusitis, Recurrent pneumonia, Autoimmun... OMIM:240500
Isolated Polycystic Liver Disease
Abdominal distention, Gastrointestinal hemorrhage, Gastroesophageal reflux, Abdominal pain, Feedi... ORPHA:2924
Mucoepithelial Dysplasia, Hereditary
Chronic diarrhea, Corneal neovascularization, Melena OMIM:158310
Telangiectasia, Hereditary Hemorrhagic, Type 1
Hematemesis, Tongue telangiectasia, Gastrointestinal hemorrhage, Nail bed telangiectasia, Spontan... OMIM:187300
Hemophilia A
Spontaneous hematomas, Gastrointestinal hemorrhage, Joint hemorrhage, Intracranial hemorrhage, In... ORPHA:98878
Eosinophilic Gastroenteritis
Steatorrhea, Protein-losing enteropathy, Abnormality of the gastrointestinal tract, Diarrhea, Abd... ORPHA:2070
Immunodeficiency 32B
Anemia, Abnormal circulating IgG level, Bronchiectasis, Eosinophilia, Sinusitis, Neutrophilia, Th... OMIM:226990
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Recurrent otitis media, Systemic lupus erythematosus, Autoimmunity, ... ORPHA:444463
Sea-Blue Histiocytosis
Abnormal bleeding, Sea-blue histiocytosis, Petechiae, Blepharitis, Thrombocytopenia, Splenomegaly ORPHA:158029
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Agammaglobulinemia 9, Autosomal Recessive
Seborrheic dermatitis, Eczematoid dermatitis, Thrombocytopenia, Agammaglobulinemia, Absent circul... OMIM:619693
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Turcot Syndrome With Polyposis
Intestinal polyposis, Melena, Diarrhea, Abdominal pain, Adenomatous colonic polyposis, Vomiting, ... ORPHA:99818
Immunodeficiency, Common Variable, 13
Recurrent viral infections, Recurrent fungal infections, Recurrent bacterial infections OMIM:616873
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Recurrent bacterial infections, Disseminated nontuberculous myc... OMIM:300636
Nk-Cell Enteropathy
Duodenal ulcer, Gastroesophageal reflux, Diarrhea, Abdominal pain, Constipation, Abnormal gastric... ORPHA:263665
Autoimmune Lymphoproliferative Syndrome, Type Iia
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Gastrointestinal hemorrhage, Iron ... OMIM:603909
Cerebroretinal Microangiopathy With Calcifications And Cysts 3
Gastrointestinal hemorrhage, Feeding difficulties OMIM:620368
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
Afibrinogenemia, Congenital
Hematemesis, Abnormal bleeding, Epidural hemorrhage, Gingival bleeding, Prolonged bleeding follow... OMIM:202400
Immunodeficiency By Defective Expression Of Mhc Class Ii
Autoimmune hemolytic anemia, Recurrent candida infections, Recurrent Staphylococcus aureus infect... ORPHA:572
Autoinflammation With Infantile Enterocolitis
Anemia, Pancytopenia, Skin rash, Enterocolitis, Thrombocytopenia, Splenomegaly, Diffuse alveolar ... OMIM:616050
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Thrombocytopenia, Leukopenia, Neutropenia OMIM:229050
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Sepsis, Recurrent otitis media, Recurrent bacterial infections, Molluscum contagiosum, Disseminat... OMIM:243700
Osteogenesis Imperfecta, Type Xvi
Prolonged bleeding time, Bruising susceptibility OMIM:616229
Immunodeficiency 27B
Recurrent mycobacterium avium complex infections, Recurrent mycobacterial infections OMIM:615978
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Recurrent aphthous stomatitis, B lymphocytopenia, Recurrent pneumonia, ... OMIM:150550
Thyrocerebroretinal Syndrome
Nephritis, Thrombocytopenia OMIM:274240
Leishmaniasis
Abnormal bleeding, Anemia, Increased circulating antibody level, Pancytopenia, Abnormal macrophag... ORPHA:507
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Hepatosplenomegaly, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia OMIM:616738
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hypersplenism, Thrombocytopenia, Splenomegaly OMIM:610539
Beta-Thalassemia
Anemia, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Hepatitis, Microcytic anemia ORPHA:848
Immunodeficiency, Common Variable, 3
Recurrent sinusitis, Recurrent respiratory infections, Recurrent otitis media, Recurrent bacteria... OMIM:613493
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Dysgammaglobulinemia, Hemophagocytosis, Pancytopenia, Lymphocytosis, Fulminant h... OMIM:308240
Selective Igm Deficiency
Recurrent vulvovaginal candidiasis, Onychomycosis, Severe varicella zoster infection, Recurrent s... ORPHA:331235
Tufted Angioma
Petechiae, Purpura, Thrombocytopenia, Anemia ORPHA:1063
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Severe Hemophilia A
Gastrointestinal hemorrhage, Cephalohematoma, Epidural hemorrhage, Subdural hemorrhage, Prolonged... ORPHA:169802
Stuve-Wiedemann Syndrome 2
Thrombocytopenia, Eczematoid dermatitis OMIM:619751
Moderate Hemophilia A
Spontaneous hematomas, Gastrointestinal hemorrhage, Abnormal bleeding, Epidural hemorrhage, Gingi... ORPHA:169805
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:598500
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
T-Cell Immunodeficiency With Thymic Aplasia
Chronic oral candidiasis, Recurrent candida infections, Sepsis, Recurrent Staphylococcus aureus i... ORPHA:83471
Infantile Liver Failure Syndrome 2
Prolonged prothrombin time, Acute hepatic failure, Cardiomyopathy, Vomiting OMIM:616483
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Abnormal gastrointestinal vascular morphology, Arteritis,... ORPHA:70475
Malignant Atrophic Papulosis
Gastrointestinal infarctions, Gastrointestinal hemorrhage, Constrictive pericarditis OMIM:602248
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Abnormal bleeding, Rectal polyposis, Small intestinal polyposis, Hematochezia, Adenomatous coloni... ORPHA:329971
Immunodeficiency 112
BCGitis, Recurrent lower respiratory tract infections, BCGosis, Chronic mucocutaneous candidiasis... OMIM:620449
Tularemia
Pneumonia, Anemia, Increased circulating antibody level, Inflammatory abnormality of the eye, Ski... ORPHA:3392
Primary Myelofibrosis
Abnormal bleeding, Purpura, Anemia, Pancytopenia, Petechiae, Extramedullary hematopoiesis, Leukoc... ORPHA:824
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Anemia, Hemophagocytosis, Pancytopenia, Stomatitis, Decreased circul... OMIM:613011
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Arthritis, Decreased FOXP3-expressing T cell count, Increased circulating IgE level, Ecze... OMIM:304790
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Abnormal bleeding, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Ab... ORPHA:35858
Fanconi Anemia, Complementation Group V
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Neutropenia OMIM:617243
Griscelli Syndrome, Type 2
Recurrent bacterial infections OMIM:607624
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:300448
Chédiak-Higashi Syndrome
Abnormal bleeding, Anemia, Increased proportion of CD25+ mast cells, Hemophagocytosis, Pancytopen... ORPHA:167
Immunodeficiency 97 With Autoinflammation
Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer cell count, Decreased circulatin... OMIM:619802
Takenouchi-Kosaki Syndrome
Increased mean platelet volume, Thrombocytopenia OMIM:616737
Leukocyte Adhesion Deficiency
Perianal abscess, Severe periodontitis, Impaired platelet aggregation, Sinusitis, Bone marrow hyp... ORPHA:2968
Acute Promyelocytic Leukemia
Abnormal bleeding, Purpura, Anemia, Pancytopenia, Stomatitis, Petechiae, Gingival bleeding, Leuko... ORPHA:520
Dengue Fever
Gastrointestinal hemorrhage, Petechiae, Abdominal pain, Diarrhea, Gingival bleeding, Hypotension,... ORPHA:99828
Congenital Disorder Of Glycosylation, Type Iig
Thrombocytopenia, Giant platelets, Anemia OMIM:611209
Immunodeficiency With Hyper-Igm, Type 5
Recurrent upper and lower respiratory tract infections, Recurrent bacterial infections OMIM:608106
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Recurrent bacterial infections OMIM:613502
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, Decreased specific antibody response to vaccination, Recurrent sinusitis, Sp... OMIM:614700
Atelis Syndrome 1
Anemia, Eczematoid dermatitis, Thrombocytopenia, Leukopenia, Bronchiectasis, Glue ear OMIM:620184
Relapsing Fever
Prolonged prothrombin time, Abnormal bleeding, Anemia, Leukocytosis, Neutrophilia, Thrombocytopen... ORPHA:91547
Monosomy 13Q34
Prolonged prothrombin time, Epistaxis, Hematochezia, Pulmonic stenosis ORPHA:96168
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Gastrointestinal hemorrhage, Epidural hemorrhage, Post-partum hemorrhage, Menorrhagia, Joint hemo... ORPHA:465
Bare Lymphocyte Syndrome, Type Ii
Recurrent lower respiratory tract infections, Recurrent urinary tract infections, Chronic mucocut... OMIM:209920
Dermatosparaxis Ehlers-Danlos Syndrome
Gastroesophageal reflux, Prolonged bleeding time, Esophagitis, Hiatus hernia ORPHA:1901
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow hypocellulari... OMIM:618849
Isovaleric Acidemia
Cerebellar hemorrhage, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia OMIM:243500
Ghosal Hematodiaphyseal Dysplasia
Bone marrow hypocellularity, Refractory anemia, Thrombocytopenia, Leukopenia OMIM:231095
Immunodeficiency 114, Folate-Responsive
Increased circulating IgE level, Megaloblastic anemia, Atopic dermatitis, Decreased circulating I... OMIM:620603
Osteopetrosis, Autosomal Recessive 4
Anemia, Petechiae, Reticulocytosis, Thrombocytopenia, Splenomegaly OMIM:611490
Ménétrier Disease
Anorexia, Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Giant hypertrophi... ORPHA:2494
Drug-Induced Lupus Erythematosus
Anemia, Malar rash, Petechiae, Pericarditis, Thrombocytopenia, Serositis ORPHA:231111
Mgat2-Cdg
Abnormal bleeding, Impaired lymphocyte transformation with phytohemagglutinin, Impaired platelet ... ORPHA:79329
Aicardi-Goutieres Syndrome 5
Thrombocytopenia, Chilblains OMIM:612952
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Intestinal obstruction, Rectal atresia, Intestinal atresia, Decreased circulating ... OMIM:243150
Ganglioneuroma
Gastrointestinal hemorrhage, Colorectal polyposis, Multiple intestinal neurofibromatosis, Hyperte... ORPHA:251992
Proteasome-Associated Autoinflammatory Syndrome 2
Anti-thyroglobulin antibody positivity, Anti-thyroid peroxidase antibody positivity, Anti-beta-2-... OMIM:618048
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Hemophagocytosis, ... OMIM:301078
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Protein-losing enteropathy, Diarrhea, Abdominal pain, Hamartomatous polyposis, Vomiting... OMIM:175500
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Pancreatitis, Thrombocytopenia, Anemia, Neutropenia ORPHA:289916
Neonatal Lupus Erythematosus
Aplastic anemia, Abnormal bleeding, Anemia, Maculopapular exanthema, Pancytopenia, Malar rash, Sk... ORPHA:398124
Noonan Syndrome 12
Thrombocytopenia, Atopic dermatitis, Lymphopenia OMIM:618624
Vitamin B12-Unresponsive Methylmalonic Acidemia
Anemia, Pancreatitis, Macrocytic anemia, Thrombocytopenia, Leukopenia ORPHA:27
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Anemia OMIM:615085
Amed Syndrome, Digenic
Anemia, Acute myeloid leukemia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia OMIM:619151
Complement Factor I Deficiency
Recurrent otitis media, Recurrent meningococcal disease, Vasculitis, Recurrent urinary tract infe... OMIM:610984
Thrombocytopenia 6
Abnormal bleeding, Thrombocytopenia, Spontaneous, recurrent epistaxis OMIM:616937
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia ORPHA:67048
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Chronic oral candidiasis, Chronic mucocutaneous candidiasis, Recurre... ORPHA:911
X-Linked Agammaglobulinemia
Chronic otitis media, Anemia, Arthritis, Skin rash, Sinusitis, Recurrent pneumonia, Thrombocytope... ORPHA:47
Agammaglobulinemia 6, Autosomal Recessive
Recurrent bronchitis, Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections OMIM:612692
Combined Immunodeficiency Due To Crac Channel Dysfunction
Sepsis, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent fungal infectio... ORPHA:169090
Spherocytosis, Type 5
Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia, Abnormal... OMIM:612690
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Anemia, Skin rash, Abnormal lymphocyte morphology, Rheumatoid arthri... ORPHA:100026
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Neutropenia in presence of anti-neutropil antibodies, Recurrent bronchiti... OMIM:607594
Asplenia, Isolated Congenital
Howell-Jolly bodies, Thrombocytosis, Asplenia OMIM:271400
Immunodeficiency With Hyper-Igm, Type 1
Chronic oral candidiasis, Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis... OMIM:308230
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Recurrent Haemophilus influenzae infections OMIM:300455
Vexas Syndrome
Nasal chondritis, Macrocytic anemia, Arteritis, Arthritis, Inflammatory abnormality of the skin, ... OMIM:301054
Primary Familial Polycythemia
Polycythemia, Epistaxis, Abnormal bleeding, Abnormal hemoglobin ORPHA:90042
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Pancreatitis, Thrombocytopenia, Splenomegaly, Neutropenia ORPHA:79312
Syndromic Diarrhea
Gastritis, Panhypogammaglobulinemia, Hypoplasia of the thymus, Increased mean platelet volume, Sp... ORPHA:84064
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Thrombocytopenia, Reticulocytosis ORPHA:54057
Congenital Bile Acid Synthesis Defect Type 1
Abnormal bleeding, Malabsorption, Gastrointestinal hemorrhage ORPHA:79301
Specific Granule Deficiency 2
Recurrent otitis media, Anemia, Recurrent pneumonia, Thrombocytopenia, Absent neutrophil specific... OMIM:617475
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Pulmonary insufficiency, Recurrent otitis media, Anti-thyroid peroxidase antibody positivity, Rec... ORPHA:277
Refractory Anemia With Excess Blasts
Abnormal bleeding, Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal... ORPHA:86839
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Recurrent otitis media, Chronic mucocutaneous candidiasis, Invasive fungal infection, Severe vira... ORPHA:98813
Transaldolase Deficiency
Thrombocytopenia, Anemia, Hepatosplenomegaly ORPHA:101028
Hereditary Mixed Polyposis Syndrome
Abnormal bleeding, Hyperplastic colonic polyposis, Neoplasm of the rectum, Colorectal polyposis, ... ORPHA:157794
Multiple Endocrine Neoplasia Type 1
Hematemesis, Duodenal ulcer, Anorexia, Peptic ulcer, Melena, Gastroesophageal reflux, Diarrhea, A... ORPHA:652
Aregenerative Anemia
Abnormal bleeding, Erythroid hypoplasia, Pancytopenia, Abnormal proportion of CD8-positive T cell... ORPHA:101096
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Anemia ORPHA:2123
Portal Hypertension, Noncirrhotic, 2
Petechiae, Ecchymosis, Epistaxis, Thrombocytopenia, Splenomegaly OMIM:619463
Boutonneuse Fever
Increased circulating IgG level, Petechiae, Skin rash, Increased circulating IgM level, Thrombocy... ORPHA:83313
Felty Syndrome
Chronic otitis media, Anemia, Arthritis, Abnormal lymphocyte morphology, Synovitis, Sinusitis, Bo... ORPHA:47612
Zika Virus Disease
Myelitis, Arthritis, Skin rash, Increased circulating IgM level, Thrombocytopenia, Infectious enc... ORPHA:448237
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Abnormal natural killer cell count, Decreased proportion of CD3-posi... ORPHA:331206
Whim Syndrome 1
Recurrent bacterial infections, Recurrent upper respiratory tract infections OMIM:193670
Macs Syndrome
Prolonged bleeding time, Recurrent aphthous stomatitis, Bruising susceptibility OMIM:613075
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Recurrent bacterial infections, Recurrent respiratory infections OMIM:613496
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Diarrhea, Abdominal pain, Colon cancer, Hematochezia, I... OMIM:174900
Aicardi-Goutieres Syndrome 4
Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Pancytopenia OMIM:610333
Fetal Cytomegalovirus Syndrome
Anemia, Petechiae, Retinal hemorrhage, Thrombocytopenia, Splenomegaly, Hepatitis ORPHA:294
Prolidase Deficiency
Anemia, Increased circulating antibody level, Petechiae, Eczematoid dermatitis, Recurrent pneumon... OMIM:170100
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Sepsis, Recurrent otitis media, Pulmonary tuberculosis, Recurrent lower respiratory tract infecti... ORPHA:183675
Complement Component 5 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:609536
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia OMIM:614727
Letterer-Siwe Disease
Anemia, Stomatitis, Seborrheic dermatitis, Thrombocytopenia, Hepatosplenomegaly, Neutropenia OMIM:246400
Familial Hemophagocytic Lymphohistiocytosis
Purpura, Anemia, Hemophagocytosis, Petechiae, Skin rash, Decreased circulating antibody level, Co... ORPHA:540
Adult Idiopathic Neutropenia
Recurrent infections, Recurrent fungal infections, Recurrent bacterial infections, Helicobacter p... ORPHA:2688
Chronic Intestinal Pseudoobstruction
Abnormal platelet morphology ORPHA:2978
Hepatoportal Sclerosis
Prolonged prothrombin time, Gastrointestinal hemorrhage, Abnormal bleeding, Anemia, Thrombocytope... ORPHA:64743
Wild Type Abeta2M Amyloidosis
Congestive heart failure, Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Abnormal in... ORPHA:85446
Immunodeficiency 22
Chronic oral candidiasis, Anemia, Decreased circulating IgE, Panniculitis, Decreased circulating ... OMIM:615758
Immunodeficiency 40
Chronic oral candidiasis, Recurrent otitis media, Focal active colitis, Reduced antigen-specific ... OMIM:616433
Congenital Toxoplasmosis
Thrombocytopenia, Anemia ORPHA:858
Rhabdoid Tumor
Thrombocytopenia, Anemia, Internal hemorrhage ORPHA:69077
Trichohepatoenteric Syndrome 1
Increased mean platelet volume, Splenomegaly, Decreased circulating antibody level, Thrombocytosis OMIM:222470
Babesiosis
Splenomegaly, Thrombocytopenia, Leukopenia, Hemolytic anemia ORPHA:108
Gaucher Disease, Type Iii
Thrombocytopenia, Splenomegaly, Pancytopenia OMIM:231000
Stormorken Syndrome
Abnormal bleeding, Anemia, Howell-Jolly bodies, Asplenia, Hypoplastic spleen, Thrombocytopenia, E... OMIM:185070
Immunodeficiency 10
Autoimmune hemolytic anemia, Sepsis, Recurrent otitis media, Recurrent infections, Recurrent urin... OMIM:612783
Moyamoya Disease 6 With Or Without Achalasia
Thrombocytopenia OMIM:615750
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Thrombocytopenia ORPHA:49827
Cyclic Neutropenia
Perianal abscess, Periodontitis, Lymphopenia, Sinusitis, Enterocolitis, Thrombocytopenia, Otitis ... ORPHA:2686
Osteopetrosis, Autosomal Recessive 2
Chronic rhinitis due to narrow nasal airway, Anemia, Pancytopenia, Thrombocytopenia, Hepatospleno... OMIM:259710
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Anemia, Increased proportion of CD25+ mast cells, Maculopapular exan... ORPHA:98850
Typhoid
Gastrointestinal hemorrhage, Diarrhea, Abdominal pain, Cardiac arrest, Constipation, Epistaxis, A... ORPHA:99745
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Kasabach-Merritt Phenomenon
Prolonged prothrombin time, Purpura, Anemia, Petechiae, Reticulocytosis, Thrombocytopenia, Leukop... ORPHA:2330
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Increased circulating antibody level, Panniculitis, Myositis, Arthritis, Skin rash, Sinus... OMIM:617591
Hereditary Folate Malabsorption
Cheilitis, Pancytopenia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocytop... ORPHA:90045
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Aplastic anemia, Purpura, Amegakaryocytic thrombocytopenia, Petechiae, Congenital thrombocytopenia OMIM:605432
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Chronic oral candidiasis, Sepsis, Chronic mucocutaneous candidiasis, Recurrent bacterial skin inf... ORPHA:276
Congenital Enterovirus Infection
Myocarditis, Abnormal bleeding, Anemia, Abnormal macrophage morphology, Skin rash, Leukocytosis, ... ORPHA:292
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections OMIM:606843
Immunodeficiency 91 And Hyperinflammation
Hemophagocytosis, Neutrophilia, Thrombocytopenia, Hepatosplenomegaly, Recurrent pneumonia, Membra... OMIM:619644
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Thrombocytopenia, Pancytopenia OMIM:613839
Pseudo-Torch Syndrome 3
Anemia, Lymphadenitis, Leukocytosis, Cerebral hemorrhage, Congenital thrombocytopenia OMIM:618886
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Thrombocytopenia, Thiamine-responsive megaloblastic anemia OMIM:249270
Hemophagocytic Lymphohistiocytosis, Familial, 2
Prolonged prothrombin time, Anemia, Hemophagocytosis, Pancytopenia, Skin rash, Thrombocytopenia, ... OMIM:603553
Congenital Rubella Syndrome
Anemia, Skin rash, Thrombocytopenia, Splenomegaly ORPHA:290
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Recurrent bacterial in... OMIM:613179
Burkitt Lymphoma
Nausea and vomiting, Intestinal obstruction, Gastrointestinal hemorrhage, Abdominal pain ORPHA:543
Omenn Syndrome
Anemia, B lymphocytopenia, Erythroderma, Hypoplasia of the thymus, Severe B lymphocytopenia, Thro... OMIM:603554
Braddock-Carey Syndrome 2
Thrombocytopenia OMIM:619981
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu... OMIM:616689
Immunodeficiency 7
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Persistent EBV vir... OMIM:615387
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Recurrent otitis media, Persistent CMV viremia, Recurrent urinary tr... OMIM:618495
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Anemia of inadequate production, Persistence of hemoglobin F, Reticul... OMIM:613673
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Thrombocytopenia, Leukopenia, ... OMIM:616959
Propionic Acidemia
Cerebellar hemorrhage, Pancreatitis, Anemia, Pancytopenia, Eczematoid dermatitis, Thrombocytopeni... OMIM:606054
Hb Bart'S Hydrops Fetalis
Pericarditis, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Increased mean platelet volume, Thrombocytopenia ORPHA:487796
Autosomal Dominant Severe Congenital Neutropenia
Recurrent ear infections, Recurrent viral infections, Recurrent infection of the gastrointestinal... ORPHA:486
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Gastrointestinal hemorrhage, Retinal telangiectasia, Esophageal varix, Portal hypertension, Bone ... OMIM:617341
Good Syndrome
Anemia, Abnormal leukocyte morphology, Decreased circulating antibody level, Sinusitis, Thrombocy... ORPHA:169105
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Anemia, Reticulocytosis, Hepatosplenomegaly, Splenomegaly,... ORPHA:846
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Acute lymphoblastic leukemia, Thr... ORPHA:158057
Desmoid Tumor
Intestinal obstruction, Gastrointestinal hemorrhage, Intestinal polyposis, Abdominal pain, Malabs... ORPHA:873
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Hemophagocytic Lymphohistiocytosis, Familial, 1
Prolonged prothrombin time, Anemia, Hemophagocytosis, Leukopenia, Thrombocytopenia, Splenomegaly,... OMIM:267700
Holocarboxylase Synthetase Deficiency
Perioral eczema, Eczematoid dermatitis, Thrombocytopenia, Keratoconjunctivitis ORPHA:79242
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Bone marrow hypocellularity, Thrombocytopenia, Hepatosplenomegaly ORPHA:210136
Cog8-Cdg
Prolonged prothrombin time, Spontaneous hematomas, Protein-losing enteropathy ORPHA:95428
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Thrombocytopenia, Erythroid hype... OMIM:617021
Immunodeficiency 36 With Lymphoproliferation
Recurrent lower respiratory tract infections, Persistent EBV viremia, Persistent CMV viremia, Rec... OMIM:616005
Acute Radiation Syndrome
Abnormal bleeding, Inflammatory abnormality of the skin, Thrombocytopenia, Lymphopenia, Interstit... ORPHA:454831
Macrophage Activation Syndrome
Anemia, Hemophagocytosis, Abnormal natural killer cell count, Increased inflammatory response, Th... ORPHA:158061
Stt3B-Cdg
Thrombocytopenia ORPHA:370924
Fetal Gaucher Disease
Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly, Intracranial hemorrhage ORPHA:85212
Dyskeratosis Congenita, Autosomal Recessive 2
Bone marrow hypocellularity, Thrombocytopenia, Pancytopenia OMIM:613987
Wilson Disease
Anemia, Acute hepatitis, Arthritis, Thrombocytopenia, Splenomegaly, Bruising susceptibility, Hepa... ORPHA:905
Hellp Syndrome
Prolonged prothrombin time, Decreased mean corpuscular hemoglobin concentration, Internal hemorrh... ORPHA:244242
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:300946
Hyperimmunoglobulinemia D With Periodic Fever
Intestinal obstruction, Purpura, Gastrointestinal hemorrhage, Recurrent aphthous stomatitis, Diar... ORPHA:343
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hashimoto thyroiditis, Thrombocytopenia, Leukocytosis ORPHA:83601
Snakebite Envenomation
Abnormal bleeding, Gingival bleeding, Ecchymosis, Thrombocytopenia, Epistaxis, Intracranial hemor... ORPHA:449285
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia OMIM:615597
Noonan Syndrome 9
Prolonged prothrombin time, Pulmonic stenosis OMIM:616559
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Sepsis, Autoim... ORPHA:231154
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis... ORPHA:232
Ziegler-Huang Syndrome
Bone marrow hypocellularity, Persistence of hemoglobin F, Macrocytic anemia, Neutropenia OMIM:620501
Immunodeficiency 115 With Autoinflammation
Recurrent viral infections, Candida esophagitis, Recurrent bacterial infections OMIM:620632
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612926
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Thrombocytopenia, Splenomegaly, Cholecystitis OMIM:620367
Mpi-Cdg
Decreased liver function, Gastrointestinal hemorrhage, Protein-losing enteropathy, Diarrhea, Port... ORPHA:79319
Atrial Septal Defect, Ostium Secundum Type
Left-to-right shunt, Supraventricular arrhythmia, Transient ischemic attack, Pulmonary arterial h... ORPHA:99103
Blue Rubber Bleb Nevus
Thrombocytopenia, Iron deficiency anemia, Intestinal bleeding OMIM:112200
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Hypochromic microcytic anemia, Thrombocytopenia, Atopic dermatitis ORPHA:3240
Bullous Pemphigoid
Recurrent infections, Autoimmunity, Anti-BP230 antibody positivity, Anti-BP180 antibody positivity ORPHA:703
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio 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
Decreased circulating antibody level, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, ... ORPHA:381
Gaucher Disease, Type I
Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Epistaxis, Hypersplenism OMIM:230800
Chediak-Higashi Syndrome
Anemia, Hemophagocytosis, Periodontitis, Spontaneous, recurrent epistaxis, Recurrent bacterial sk... OMIM:214500
Acyl-Coa Dehydrogenase 9 Deficiency
Prolonged prothrombin time, Congestive heart failure, Cerebellar hemorrhage, Hypertrophic cardiom... ORPHA:99901
Sengers Syndrome
Thrombocytopenia OMIM:212350
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612925
Polymyositis
Anorexia, Abnormal atrioventricular conduction, Gastrointestinal hemorrhage, Congestive heart fai... ORPHA:732
Gastrointestinal Stromal Tumor
Esophageal neoplasm, Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the stomach... ORPHA:44890
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Pancreatitis, Thrombocytopenia, Leukopenia, Tubulointerstitial nephritis, ... OMIM:251000
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Thrombocytopenia, Anemia, Lymphopenia OMIM:620365
Liver Failure, Infantile, Transient
Prolonged prothrombin time, Abdominal distention, Vomiting, Decreased circulating IgG level, Acut... OMIM:613070
Specific Granule Deficiency 1
Recurrent pneumonia, Recurrent otitis media, Recurrent bacterial infections OMIM:245480
Peutz-Jeghers Syndrome
Esophageal neoplasm, Intestinal obstruction, Gastrointestinal hemorrhage, Gastrointestinal infarc... ORPHA:2869
Pemphigus Vulgaris
Recurrent infections, Anti-desmoglein-3 antibody positivity, Anti-desmoglein-1 antibody positivit... ORPHA:704
Congenital Bile Acid Synthesis Defect Type 4
Hematochezia ORPHA:79095
Idiopathic Bronchiectasis
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections, Myocar... ORPHA:60033
Classical-Like Ehlers-Danlos Syndrome Type 1
Bruising susceptibility, Gastrointestinal hemorrhage, Arrhythmia ORPHA:230839
Postinfectious Vasculitis
Ischemic stroke, Severe cytomegalovirus infection, Recurrent candida infections, Recurrent Staphy... ORPHA:48435
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Thrombocytopenia OMIM:616577
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Neutropenia OMIM:614520
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Anemia, Panhypogammaglobulinemia, Pancytopenia, Abnormal natural killer cell count, Chronic mucoc... ORPHA:79124
Bacterial Toxic-Shock Syndrome
Myocarditis, Fasciitis, Myositis, Arthritis, Skin rash, Increased circulating myelocyte count, He... ORPHA:36234
Shwachman-Diamond Syndrome 2
Prolonged prothrombin time, Normocytic anemia, Thrombocytopenia, Neutropenia OMIM:617941
3-Methylglutaconic Aciduria, Type Viib
Prolonged prothrombin time, Abnormal bleeding, Recurrent pneumonia, Thrombocytopenia, Leukopenia,... OMIM:616271
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Congestive heart failure, Chronic diarrhea, Abdominal pain, Cardiomyopathy, Inflammation of the l... OMIM:615895
Leukocyte Adhesion Deficiency, Type I
Recurrent infections, Chronic mucocutaneous candidiasis, Recurrent staphylococcal infections, Rec... OMIM:116920
Atrial Septal Defect, Coronary Sinus Type
Presyncope, Increased pulmonary vascular resistance, Supraventricular arrhythmia, Transient ische... ORPHA:99104
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Anemia, Schistocytosis, Thrombocytopenia, Leukopenia, Lymphopenia, Hemolytic anemia, Neutropenia OMIM:301110
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia