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Gene: Gp1ba MGI:1333744

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
glycoprotein 1b, alpha polypeptide
Synonyms:
GPIba,  GP Ib-alpha,  GPIb-alpha

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 Gp1ba 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 Gp1ba by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Bernard-Soulier Syndrome
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble... OMIM:231200
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Petechiae, Epistaxis, Increased mean platelet volume, Splenomegaly, Thrombocyto... OMIM:153670
Bernard-Soulier Syndrome
Abnormal bleeding, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Impaired ristoc... ORPHA:274
Fetal And Neonatal Alloimmune Thrombocytopenia
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Neonatal alloimmune thro... ORPHA:853
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To
OMIM:258660

The table below shows human diseases predicted to be associated to Gp1ba by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Prolonged bleeding time, Giant platelets, Thrombocytopenia OMIM:608404
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Bleeding Disorder, Platelet-Type, 24
Abnormal bleeding, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platele... OMIM:619271
Bleeding Disorder, Platelet-Type, 16
Abnormal bleeding, Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosi... OMIM:187800
Immune Thrombocytopenia
Abnormal bleeding, Thrombocytopenia OMIM:188030
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Platelet anisocytosis, Epistaxis, Increased mean platelet volume OMIM:615193
Bernard-Soulier Syndrome
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble... OMIM:231200
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d... OMIM:137560
Thrombocytopenia With Beta-Thalassemia, X-Linked
Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epi... OMIM:314050
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Thrombocytopenia 7
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Pos... OMIM:619130
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Prolonged bleeding time, Leukocyte inclusion bodies, Epistaxis, Impaired ADP-i... OMIM:155100
Thrombocytopenia 2
Leukocytosis, Bruising susceptibility, Thrombocytopenia OMIM:188000
Athrombia, Essential
Abnormal bleeding, Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggrega... OMIM:209050
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Epistaxis, Abnormal platelet count, Menorrhagia, Impaired collagen-induc... OMIM:614201
Glanzmann Thrombasthenia 2
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, ... OMIM:619267
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Anemia, Abnormal platelet function, Thrombo... ORPHA:231393
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggregation, Thromb... OMIM:124900
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Impaired epinephrine-induced platelet aggre... OMIM:273800
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis... OMIM:615888
Bleeding Disorder, Platelet-Type, 19
Abnormal bleeding, Epistaxis, Thrombocytopenia, Macrothrombocytopenia, Spontaneous hematomas, Men... OMIM:616176
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Platelet Disorder, Undefined
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Slc35A1-Cdg
Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage, Giant platelets, Neutropenia... ORPHA:238459
Platelet Signal Processing Defect
Abnormal bleeding, Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induce... OMIM:173590
Storage Pool Platelet Disease
Abnormal bleeding, Prolonged bleeding time, Decreased mean platelet volume, Acute leukemia OMIM:185050
Amegakaryocytic Thrombocytopenia, Congenital, 1
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia OMIM:604498
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Bleeding Disorder, Platelet-Type, 21
Abnormal bleeding, Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Men... OMIM:617443
Glanzmann Thrombasthenia
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Purpura, ... ORPHA:849
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Petechiae, Epistaxis, Increased mean platelet volume, Splenomegaly, Thrombocyto... OMIM:153670
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Myh9-Related Disease
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Increased mean platelet volume, Giant ... ORPHA:182050
Von Willebrand Disease, Type 3
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha... OMIM:277480
Bleeding Disorder, Platelet-Type, 17
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Increased RBC distributi... OMIM:187900
Bleeding Disorder, Platelet-Type, 20
Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia OMIM:613554
Gray Platelet Syndrome
Abnormal bleeding, Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epist... OMIM:139090
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia OMIM:188025
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Prolonged bleeding time, Epistaxis, Acute monocytic leukemia, Bruising su... OMIM:601399
Gray Platelet Syndrome
Abnormal bleeding, Abnormality of thrombocytes, Epistaxis, Splenomegaly, Bruising susceptibility,... ORPHA:721
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia, Purpura ORPHA:529
Thrombocytopenia 3
Thrombocytopenia, Epistaxis, Petechiae, Decreased mean platelet volume OMIM:273900
Bernard-Soulier Syndrome
Abnormal bleeding, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Impaired ristoc... ORPHA:274
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Spastic Paraplegia And Evans Syndrome
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia OMIM:601608
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time, Ecchymosis, Bruising susceptibility, Epistaxis OMIM:614158
Acute Myelomonocytic Leukemia
Abnormal bleeding, Eosinophilia, Leukocytosis, Anemia, Thrombocytopenia ORPHA:517
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Factor V Deficiency
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B... OMIM:227400
Quebec Platelet Disorder
Epistaxis, Menorrhagia, Bruising susceptibility, Joint hemorrhage, Thrombocytopenia, Impaired epi... OMIM:601709
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Thrombocytopenia 5
Petechiae, Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscula... OMIM:616216
Thrombocythemia 2
Thrombocytosis OMIM:601977
Alpha-Thalassemia-Myelodysplastic Syndrome
Abnormal bleeding, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, Bruising suscept... ORPHA:231401
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia OMIM:133180
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Gingival bleeding,... ORPHA:3002
Hermansky-Pudlak Syndrome 7
Prolonged bleeding time, Epistaxis, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggreg... OMIM:614076
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Abnormal bleeding, Thrombocytopenia OMIM:314000
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Bruising susceptibili... OMIM:300367
Prothrombin Deficiency, Congenital
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... OMIM:613679
Hermansky-Pudlak Syndrome 5
Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Impaired ADP-induced platelet... OMIM:614074
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Refractory Anemia
Abnormal bleeding, Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythro... ORPHA:98826
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Subcutaneous hemorrhage ORPHA:1980
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... OMIM:193400
Essential Thrombocythemia
Prolonged bleeding time, Abnormality of thrombocytes, Splenomegaly, Abnormal platelet morphology,... ORPHA:3318
Thrombocytopenia 1
Epistaxis, Decreased mean platelet volume, Intermittent thrombocytopenia, Bruising susceptibility... OMIM:313900
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Congenital Factor Ii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... ORPHA:325
Blue Rubber Bleb Nevus
Prolonged bleeding time, Intestinal bleeding, Microcytic anemia ORPHA:1059
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Anemia OMIM:615715
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Sitosterolemia 1
Abnormal bleeding, Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytos... OMIM:210250
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Hermansky-Pudlak Syndrome 6
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation,... OMIM:614075
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Deafness-Lymphedema-Leukemia Syndrome
Prolonged bleeding time, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, I... ORPHA:3226
Hemophilia B
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... ORPHA:98879
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Anemia, Neutropenia OMIM:614082
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Hermansky-Pudlak Syndrome 9
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia OMIM:615285
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Acquired Idiopathic Sideroblastic Anemia
Abnormal bleeding, Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate ... ORPHA:75564
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... OMIM:169400
Idiopathic Aplastic Anemia
Pancytopenia, Epistaxis, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Gingival bleedi... ORPHA:88
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
Fetal And Neonatal Alloimmune Thrombocytopenia
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Neonatal alloimmune thro... ORPHA:853
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Malaria
Anemia, Thrombocytopenia ORPHA:673
Transcobalamin Deficiency
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia ORPHA:859
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia OMIM:616435
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia OMIM:607616
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia OMIM:616738
Congenital Disorder Of Glycosylation, Type Iif
Subcutaneous hemorrhage, Macrothrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, ... OMIM:603585
Thrombocytopenia 6
Abnormal bleeding, Spontaneous, recurrent epistaxis, Thrombocytopenia OMIM:616937
Nephrotic Syndrome, Type 7
Hemolytic anemia, Thrombocytopenia OMIM:615008
Immunodeficiency 46
Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
Hemophagocytic Lymphohistiocytosis, Familial, 4
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia OMIM:603552
Sea-Blue Histiocytosis
Abnormal bleeding, Petechiae, Splenomegaly, Sea-blue histiocytosis, Thrombocytopenia ORPHA:158029
Folate Malabsorption, Hereditary
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:229050
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy... ORPHA:906
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time ORPHA:638
Aicardi-Goutieres Syndrome 6
Splenomegaly, Hemolytic anemia, Thrombocytopenia OMIM:615010
Isovaleric Acidemia
Thrombocytopenia, Leukopenia, Cerebellar hemorrhage, Pancytopenia OMIM:243500
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Thrombocytopenia, Anemia, Splenomegaly OMIM:610539
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Internal hemorrhage, Microcytic anemia ORPHA:90308
Wt Limb-Blood Syndrome
Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia OMIM:194350
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:598500
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Phosphoglycerate Dehydrogenase Deficiency
Thrombocytopenia, Megaloblastic anemia OMIM:601815
Tufted Angioma
Anemia, Thrombocytopenia, Petechiae, Purpura ORPHA:1063
Systemic Lupus Erythematosus 17
Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia OMIM:301080
Primary Myelofibrosis
Abnormal bleeding, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Thrombocytopenia, ... ORPHA:824
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Petechiae, Splenomegaly, Anemia, Thrombocytopenia OMIM:611490
Hermansky-Pudlak Syndrome 2
Prolonged bleeding time, Absent platelet dense granules, Splenomegaly, Impaired ADP-induced plate... OMIM:608233
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... OMIM:612690
Acquired Purpura Fulminans
Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage, Thromb... ORPHA:49566
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Hemophagocytosis, Anemia OMIM:613101
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Prolonged bleeding time, Autoimmune h... OMIM:301000
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Leukopenia, Thrombocytopenia OMIM:231095
Acute Promyelocytic Leukemia
Abnormal bleeding, Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Thrombocytopenia, Leukoc... ORPHA:520
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Thrombocytopenia OMIM:616744
Portal Hypertension, Noncirrhotic, 2
Petechiae, Epistaxis, Splenomegaly, Ecchymosis, Thrombocytopenia OMIM:619463
Bone Marrow Failure Syndrome 4
Leukopenia, Thrombocytopenia, Anemia OMIM:618116
Leishmaniasis
Abnormal bleeding, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia... ORPHA:507
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia ORPHA:67048
Imerslund-Gräsbeck Syndrome
Abnormal bleeding, Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisop... ORPHA:35858
Factor X Deficiency
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... OMIM:227600
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Anemia OMIM:615085
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Dengue Fever
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Leukopenia, Gingiv... ORPHA:99828
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Increased mean platelet volume OMIM:616737
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb... OMIM:226990
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia, Petechiae, Purpura OMIM:605432
Congenital Disorder Of Glycosylation, Type Iig
Thrombocytopenia, Giant platelets, Anemia OMIM:611209
Aregenerative Anemia
Abnormal bleeding, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased ... ORPHA:101096
Relapsing Fever
Abnormal bleeding, Neutrophilia, Epistaxis, Thrombocytopenia, Leukocytosis, Leukopenia, Prolonged... ORPHA:91547
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Diffuse alveolar hemorrhage, Splenomegaly, Anemia, Reduced natural killer cell coun... OMIM:616050
Aicardi-Goutieres Syndrome 4
Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly OMIM:610333
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopen... OMIM:603909
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
Stuve-Wiedemann Syndrome 2
Thrombocytopenia OMIM:619751
Gaucher Disease, Type Iii
Splenomegaly, Pancytopenia, Thrombocytopenia OMIM:231000
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:35909
Amed Syndrome, Digenic
Acute myeloid leukemia, Leukopenia, Thrombocytopenia, Anemia OMIM:619151
Stormorken Syndrome
Abnormal bleeding, Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Thrombocyto... OMIM:185070
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Anemia ORPHA:2123
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Anemia, Leu... OMIM:613011
Refractory Anemia With Excess Blasts
Abnormal bleeding, Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal... ORPHA:86839
Transaldolase Deficiency
Thrombocytopenia, Anemia, Hepatosplenomegaly ORPHA:101028
Rhabdoid Tumor
Thrombocytopenia, Internal hemorrhage, Anemia ORPHA:69077
Moyamoya Disease 6 With Or Without Achalasia
Thrombocytopenia OMIM:615750
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia OMIM:614727
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, B lymphocytopenia, Neutropenia OMIM:150550
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia ORPHA:848
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Prolonged bleeding time, Hemolytic anemia, Splenomegaly, Leukopenia,... ORPHA:809
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Absent circulating B cells OMIM:619693
Noonan Syndrome 12
Lymphopenia, Thrombocytopenia OMIM:618624
Systemic Lupus Erythematosus
Hemolytic anemia, Thrombocytopenia, Leukopenia OMIM:152700
Congenital Toxoplasmosis
Thrombocytopenia, Anemia ORPHA:858
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Hematochezia, Subconjunctival hemorrhage, Lymphocytosis, Thromboc... OMIM:617718
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Babesiosis
Splenomegaly, Leukopenia, Hemolytic anemia, Thrombocytopenia ORPHA:108
Dentinogenesis Imperfecta
Prolonged bleeding time, Bruising susceptibility ORPHA:49042
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Thrombocytopenia, Anemia, Neutropenia ORPHA:289916
Hepatoportal Sclerosis
Abnormal bleeding, Gastrointestinal hemorrhage, Hypersplenism, Thrombocytopenia, Splenomegaly, Le... ORPHA:64743
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thrombocytopenia, Megaloblastic anemia ORPHA:49827
Hermansky-Pudlak Syndrome 1
Prolonged bleeding time, Epistaxis, Hematochezia, Gingival bleeding, Ecchymosis, Bruising suscept... OMIM:203300
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... ORPHA:158057
Isolated Agammaglobulinemia
Anemia, Thrombocytopenia, Abnormal lymphocyte morphology, Abnormality of neutrophils ORPHA:229717
Vitamin B12-Unresponsive Methylmalonic Acidemia
Thrombocytopenia, Leukopenia, Macrocytic anemia, Anemia ORPHA:27
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Thrombocytopenia, Anemia, Neutropenia ORPHA:79312
Braddock-Carey Syndrome 2
Thrombocytopenia OMIM:619981
Fetal Gaucher Disease
Pancytopenia, Abnormality of the spleen, Splenomegaly, Intracranial hemorrhage, Thrombocytopenia ORPHA:85212
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Splenomegaly, Lymphocytosis, Hemophagocytosis, Neutropenia, Thromb... OMIM:308240
Snakebite Envenomation
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Gingival bleeding, Ecchymosis, Thrombocyto... ORPHA:449285
Atelis Syndrome 1
Leukopenia, Thrombocytopenia, Anemia OMIM:620184
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatos... ORPHA:98850
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia OMIM:613839
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Anemia, Leukopenia, Prolonged prothrombin time, Microangiopath... ORPHA:2330
Neonatal Lupus Erythematosus
Abnormal bleeding, Hemolytic anemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Splenomegal... ORPHA:398124
Lathosterolosis
Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hepatospleno... OMIM:607330
Specific Granule Deficiency 2
Absent neutrophil specific granules, Thrombocytopenia, Anemia, Neutropenia OMIM:617475
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Abnorma... ORPHA:100026
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:612783
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Thrombocytopenia OMIM:249270
Trichohepatoenteric Syndrome 1
Splenomegaly, Thrombocytosis, Increased mean platelet volume OMIM:222470
Preeclampsia
Thrombocytopenia ORPHA:275555
Stt3B-Cdg
Thrombocytopenia ORPHA:370924
Blue Rubber Bleb Nevus
Iron deficiency anemia, Intestinal bleeding, Thrombocytopenia OMIM:112200
Syndromic Diarrhea
Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Lymphopenia ORPHA:84064
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Thrombocytopenia OMIM:613987
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,... OMIM:304790
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er... OMIM:617021
Acquired Von Willebrand Syndrome
Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Epistaxis, Intracranial hemorr... ORPHA:99147
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia OMIM:615597
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612924
Gaucher Disease, Type I
Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:230800
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612926
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Thrombocytopenia, Pulmonary hemo... OMIM:619644
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thrombocytopenia, Increased mean platelet volume ORPHA:487796
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia ORPHA:90045
Drug-Induced Lupus Erythematosus
Anemia, Thrombocytopenia, Petechiae ORPHA:231111
Letterer-Siwe Disease
Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly OMIM:246400
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Neutropenia, Agra... OMIM:301078
Congenital Fibrinogen Deficiency
Abnormal bleeding, Internal hemorrhage, Splenic rupture, Prolonged prothrombin time, Gingival ble... ORPHA:335
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... OMIM:603554
Sengers Syndrome
Thrombocytopenia OMIM:212350
Intermediate Osteopetrosis
Thrombocytopenia, Anemia, Hepatosplenomegaly ORPHA:210110
Congenital Rubella Syndrome
Splenomegaly, Thrombocytopenia, Anemia ORPHA:290
Propionic Acidemia
Pancytopenia, Cerebellar hemorrhage, Anemia, Neutropenia, Thrombocytopenia OMIM:606054
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Thrombocytopenia, Hepatosplenomegaly ORPHA:210136
Osteogenesis Imperfecta, Type Xvi
Prolonged bleeding time, Bruising susceptibility OMIM:616229
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Thrombocytopenia, Lymphopenia, Anemia OMIM:620365
Pseudo-Torch Syndrome 3
Anemia, Leukocytosis, Congenital thrombocytopenia, Cerebral hemorrhage OMIM:618886
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612925
Proteasome-Associated Autoinflammatory Syndrome 2
B lymphocytopenia, Increased CD4:CD8 ratio, Decreased proportion of memory B cells, Thrombocytopenia OMIM:618048
Macs Syndrome
Prolonged bleeding time, Bruising susceptibility OMIM:613075
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:259710
Hellp Syndrome
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Cerebral hemorrhage, Prolo... ORPHA:244242
Ebola Hemorrhagic Fever
Abnormal bleeding, Gastrointestinal hemorrhage, Melena, Leukopenia, Lymphopenia, Thrombocytopenia ORPHA:319218
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... ORPHA:331206
Boutonneuse Fever
Leukopenia, Thrombocytopenia, Petechiae ORPHA:83313
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Thrombocytopenia OMIM:616577
Congenital Enterovirus Infection
Abnormal bleeding, Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Leukopenia, Ne... ORPHA:292
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Abnormal dense granu... OMIM:214500
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Cerebellar hemorrhage, Thrombocytopenia, Neutropenia OMIM:251000
Tularemia
Thrombocytopenia, Leukocytosis, Anemia ORPHA:3392
Familial Hemophagocytic Lymphohistiocytosis
Thrombocytopenia, Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Ecchymosis, Bruising susce... ORPHA:540
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Abnormal bleeding, Prolonged prothrombin time, Epistaxis OMIM:610842
Acute Radiation Syndrome
Abnormal bleeding, Lymphopenia, Granulocytopenia, Thrombocytopenia ORPHA:454831
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia, Purpura OMIM:235400
Beemer-Ertbruggen Syndrome
Thrombocytopenia ORPHA:1237
Cog4-Cdg
Thrombocytopenia, Hepatosplenomegaly ORPHA:263501
Hemophagocytic Lymphohistiocytosis, Familial, 1
Splenomegaly, Anemia, Leukopenia, Prolonged prothrombin time, Hemophagocytosis, Thrombocytopenia OMIM:267700
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Leukopenia, Thrombocytopenia, Pancytopenia, Anemia OMIM:613845
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Normochromic anemia, Thrombocytopenia, Neutropenia OMIM:614857
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Splenomegaly, Hepatosplenomegaly, Anemia, Leukopenia, Prolonged prothrombin time, H... OMIM:603553
Prolidase Deficiency
Anemia, Thrombocytopenia, Petechiae, Splenomegaly OMIM:170100
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Gaucher Disease Type 1
Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Gingival bleeding, Bruis... ORPHA:77259
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Thrombocytopenia, Anemia, Neutropenia OMIM:614520
Macrophage Activation Syndrome
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cell count, Thromboc... ORPHA:158061
Griscelli Syndrome
Splenomegaly, Leukopenia, Thrombocytopenia, Abnormality of neutrophils ORPHA:381
Acyl-Coa Dehydrogenase 9 Deficiency
Thrombocytopenia, Cerebellar hemorrhage, Prolonged prothrombin time ORPHA:99901
Zika Virus Disease
Thrombocytopenia, Subcutaneous hemorrhage ORPHA:448237
Wilson Disease
Splenomegaly, Thrombocytopenia, Bruising susceptibility, Anemia ORPHA:905
Dermatosparaxis Ehlers-Danlos Syndrome
Prolonged bleeding time ORPHA:1901
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... OMIM:277450
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Thrombocytopenia, Splenomegaly, Hepatosplenome... ORPHA:464329
Fanconi Anemia, Complementation Group E
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Bruising susceptibility, Thromboc... OMIM:600901
Congenital Disorder Of Glycosylation, Type Iil
Abnormal bleeding, Splenomegaly, Pancytopenia, Thrombocytopenia OMIM:614576
Pseudo-Torch Syndrome 2
Thrombocytopenia, Cerebral hemorrhage, Petechiae OMIM:617397
Shwachman-Diamond Syndrome 2
Normocytic anemia, Prolonged prothrombin time, Thrombocytopenia, Neutropenia OMIM:617941
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, He... ORPHA:79124
3-Methylglutaconic Aciduria, Type Viib
Abnormal bleeding, Leukopenia, Prolonged prothrombin time, Neutropenia, Thrombocytopenia OMIM:616271
Wolfram Syndrome 1
Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia OMIM:222300
Cyclic Neutropenia
Decreased eosinophil count, Lymphopenia, Cyclic neutropenia, Thrombocytopenia ORPHA:2686
Transaldolase Deficiency
Pancytopenia, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:606003
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:274150
Methylmalonic Aciduria, Cblb Type
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia OMIM:251110
X-Linked Agammaglobulinemia
Thrombocytopenia, Anemia, Neutropenia ORPHA:47
Congenital Disorder Of Glycosylation, Type Ih
Thrombocytopenia, Anemia OMIM:608104
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Leukocytosis, Anemia ORPHA:90060
Fanconi Anemia, Complementation Group A
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Bruising susceptibility, Thromboc... OMIM:227650
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Leukopenia, Neutropenia, Thrombocytopenia OMIM:613989
Holocarboxylase Synthetase Deficiency
Thrombocytopenia ORPHA:79242
Felty Syndrome
Splenomegaly, Anemia, Neutropenia, Abnormal lymphocyte morphology, Thrombocytopenia ORPHA:47612
Braddock-Carey Syndrome 1
Thrombocytopenia OMIM:619980
Mirage Syndrome
Petechiae, Thrombocytopenia, Intracranial hemorrhage, Leukopenia, Hypoplastic spleen, Lymphopenia... OMIM:617053
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Thrombocytopenia OMIM:617710
Cholesteryl Ester Storage Disease
Bone-marrow foam cells, Hypersplenism, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Leukop... OMIM:278000
Osteopetrosis, Autosomal Recessive 1
Splenomegaly, Thrombocytopenia, Pancytopenia, Anemia OMIM:259700
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... OMIM:614700
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Thrombocytopenia ORPHA:83601
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Retin... ORPHA:464321
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Thrombocytopenia, Anemia ORPHA:3322
Pseudo-Torch Syndrome 1
Splenomegaly, Thrombocytopenia, Petechiae OMIM:251290
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Hemolytic anemia, Thrombocytopenia ORPHA:169090
Chédiak-Higashi Syndrome
Abnormal bleeding, Abnormal leukocyte morphology, Pancytopenia, Epistaxis, Thrombocytopenia, Sple... ORPHA:167
Maternal Uniparental Disomy Of Chromosome 6
Thrombocytopenia ORPHA:96181
Sepsis In Premature Infants
Abnormal bleeding, Thrombocytopenia, Leukocytosis, Splenomegaly, Anemia, Neutropenia, Petechiae, ... ORPHA:90051
Immunodeficiency 40
T lymphocytopenia, Thrombocytopenia OMIM:616433
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Hypochromic microcytic anemia, Thrombocytopenia ORPHA:3240
Lig4 Syndrome
Acute lymphoblastic leukemia, Pancytopenia, Thrombocytopenia OMIM:606593
Noonan Syndrome 4
Abnormal bleeding, Bruising susceptibility, Thrombocytopenia OMIM:610733
Alg8-Cdg
Thrombocytopenia, Anemia ORPHA:79325
Aicardi-Goutieres Syndrome 1
Splenomegaly, Thrombocytopenia, Petechiae, Purpura OMIM:225750
Mitochondrial Complex I Deficiency, Nuclear Type 20
Thrombocytopenia OMIM:611126
Vexas Syndrome
Macrocytic anemia, Thrombocytopenia OMIM:301054
Smith-Kingsmore Syndrome
Thrombocytopenia OMIM:616638
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro... ORPHA:158048
Schimke Immunoosseous Dysplasia
Pancytopenia, Abnormal T cell morphology, Anemia, Neutropenia, Lymphopenia, Thrombocytopenia OMIM:242900
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Megaloblastic anemia, Anemia, Neutropenia, Thrombocytopenia OMIM:277380
Fanconi Anemia, Complementation Group C
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Bruising susceptibility, Thromboc... OMIM:227645
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Abnormal bleeding, Thrombocytopenia OMIM:208085
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop... OMIM:127550
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... OMIM:260400
Dyskeratosis Congenita, Autosomal Dominant 3
Leukopenia, Pancytopenia, Aplastic anemia, Thrombocytopenia OMIM:613990
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Neutropenia, Lymphopenia, Anemia ORPHA:508542
Necrotizing Enterocolitis
Leukocytosis, Thrombocytopenia, Neutropenia ORPHA:391673
Dyskeratosis Congenita, Autosomal Recessive 1
Pancytopenia, Aplastic anemia, Thrombocytopenia OMIM:224230
Immunodeficiency 22
Decreased proportion of CD4-positive helper T cells, Thrombocytopenia, Anemia OMIM:615758
Good Syndrome
Abnormal leukocyte morphology, Thrombocytopenia, Anemia ORPHA:169105
Methylmalonic Aciduria, Cbla Type
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia OMIM:251100
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... OMIM:617052
Mevalonic Aciduria
Normocytic hypoplastic anemia, Fluctuating splenomegaly, Leukocytosis, Hepatosplenomegaly, Anemia... OMIM:610377
Combined Oxidative Phosphorylation Deficiency 14
Thrombocytopenia, Anemia OMIM:614946
Schimke Immuno-Osseous Dysplasia
Thrombocytopenia, Decreased proportion of naive CD8 T cells, Abnormal proportion of naive CD4 T c... ORPHA:1830
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Normochromic anemia, Thrombocytopenia OMIM:618775
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Thrombocytopenia, Lymphopenia, Anemia OMIM:617591
Gaucher Disease, Perinatal Lethal
Petechiae, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Anemia, Purpura OMIM:608013
Lujo Hemorrhagic Fever
Excessive bleeding after a venipuncture, Leukocytosis, Subconjunctival hemorrhage, Leukopenia, Ec... ORPHA:319213
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Leukopenia, Thrombocytopenia OMIM:301056
Pediatric Systemic Lupus Erythematosus
Leukopenia, Lymphopenia, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:93552
Rift Valley Fever
Abnormal bleeding, Hematemesis, Thrombocytopenia, Retinal hemorrhage, Melena, Gingival bleeding, ... ORPHA:319251
Ivic Syndrome
Leukocytosis, Thrombocytopenia ORPHA:2307
Mucopolysaccharidosis-Plus Syndrome
Splenomegaly, Anemia, Leukopenia, Neutropenia, Thrombocytopenia OMIM:617303
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Leukopenia, Thrombocytopenia ORPHA:974
Pediatric-Onset Graves Disease
Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia ORPHA:525731
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Intermittent thrombocytopenia, Erythroid hypoplasia, Thrombocytopenia, Splenomegaly, Hepatospleno... OMIM:612541
Avian Influenza
Leukopenia, Lymphopenia, Thrombocytopenia ORPHA:454836
Immunodeficiency With Hyper-Igm, Type 1
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Neutropenia OMIM:308230
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic microcytic an... OMIM:259720
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Neutropenia, Hypoplastic... OMIM:557000
Shwachman-Diamond Syndrome
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... ORPHA:811
Catastrophic Antiphospholipid Syndrome
Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:464343
Recon Progeroid Syndrome
Thrombocytopenia, Anemia OMIM:620370
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... ORPHA:124
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Bruising susceptibility, Thrombocytopenia OMIM:612394
Fanconi Anemia, Complementation Group B
Aplastic anemia, Thrombocytopenia OMIM:300514
Holocarboxylase Synthetase Deficiency
Thrombocytopenia OMIM:253270
Overlap Myositis
Leukopenia, Thrombocytopenia ORPHA:206572
Diamond-Blackfan Anemia 21
Erythroid hypoplasia, Thrombocytopenia, Anemia OMIM:620072
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Fanconi Anemia, Complementation Group F
Leukopenia, Thrombocytopenia, Anemia OMIM:603467
Infantile Liver Failure Syndrome 2
Prolonged prothrombin time OMIM:616483
Fanconi Anemia, Complementation Group D2
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Bruising susceptibility, Thromboc... OMIM:227646
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Prolonged prothrombin time, Thrombocytosis, Macrocytic anemia OMIM:212750
Gaucher Disease, Type Ii
Splenomegaly, Thrombocytopenia, Anemia OMIM:230900
Lathosterolosis
Thrombocytopenia, Anisopoikilocytosis, Abnormal platelet morphology ORPHA:46059
Combined Oxidative Phosphorylation Deficiency 55
Thrombocytopenia, Anemia OMIM:619743
Congenital Bile Acid Synthesis Defect Type 2
Prolonged prothrombin time, Extramedullary hematopoiesis ORPHA:79303
Caroli Syndrome
Abnormal bleeding, Hematemesis, Hypersplenism, Leukocytosis, Melena, Leukopenia, Thrombocytopenia ORPHA:480520
Lysinuric Protein Intolerance
Splenomegaly, Anemia, Leukopenia, Hemophagocytosis, Thrombocytopenia, Pulmonary hemorrhage OMIM:222700
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Neutrophilia, Epistaxis, Diffuse alveolar hemorrhage, Hematemesis, Splenomegaly, He... ORPHA:99827
Atelis Syndrome 2
Vitreous hemorrhage, Thrombocytopenia, Anemia OMIM:620185
Shigellosis
Leukocytosis, Microangiopathic hemolytic anemia, Splenic abscess, Thrombocytopenia, Purpura ORPHA:810
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Thrombocytopenia ORPHA:457351
Farber Disease
Thrombocytopenia, Anemia, Hepatosplenomegaly ORPHA:333
Bacterial Toxic-Shock Syndrome
Ecchymosis, Increased circulating metamyelocyte count, Increased circulating myelocyte count, Thr... ORPHA:36234
Infantile Liver Failure Syndrome 3
Splenomegaly, Prolonged prothrombin time OMIM:618641
Alg12-Cdg
Prolonged prothrombin time, B lymphocytopenia, Thrombocytopenia ORPHA:79324
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Normochromic anemia, Thrombocytopenia OMIM:254900
Castleman Disease
Decreased mean corpuscular volume, Thrombocytopenia, Anemia ORPHA:160
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Leukocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:90038
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Thrombocytopenia, Intestinal bleeding, Anemia OMIM:612199
Cog8-Cdg
Spontaneous hematomas, Prolonged prothrombin time ORPHA:95428
Marburg Hemorrhagic Fever
Abnormal bleeding, Reticulocytosis, Lymphopenia, Excessive bleeding after a venipuncture, Thrombo... ORPHA:99826
Hemorrhagic Fever-Renal Syndrome
Epistaxis, Hematemesis, Thrombocytopenia, Leukocytosis, Intracranial hemorrhage, Melena, Subconju... ORPHA:340
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Thrombocytopenia, Anemia, Abnormality of neutrophils ORPHA:36426
21Q22.11Q22.12 Microdeletion Syndrome
Thrombocytopenia, Anemia ORPHA:261323
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Splenomegaly, Thrombocytopenia OMIM:251880
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Thrombocytopenia, Anemia, Neutropenia ORPHA:537
Wars2-Related Combined Oxidative Phosphorylation Defect
Thrombocytopenia ORPHA:572798
Sialuria
Prolonged prothrombin time, Hepatosplenomegaly ORPHA:3166
Q Fever
Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia, Purpura ORPHA:781
Bile Acid Synthesis Defect, Congenital, 3
Hematochezia, Splenomegaly, Prolonged prothrombin time OMIM:613812
Ivic Syndrome
Leukocytosis, Thrombocytopenia OMIM:147750
Congenital Erythropoietic Porphyria
Abnormal bleeding, Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Leukopenia, Poi... ORPHA:79277
Thrombocytopenia-Absent Radius Syndrome
Thrombocytopenia ORPHA:3320
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... ORPHA:391487
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:277400
3-Hydroxy-3-Methylglutaric Aciduria
Leukocytosis, Leukopenia, Prolonged prothrombin time, Thrombocytosis, Anemia ORPHA:20
Idiopathic Hypereosinophilic Syndrome
Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Int... ORPHA:3260
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Splenomegaly, Leukopenia, Thrombocytopenia OMIM:300972
Alport Syndrome 1, X-Linked
Thrombocytopenia OMIM:301050
Noonan Syndrome 9
Prolonged prothrombin time OMIM:616559
Yellow Fever
Abnormal bleeding, Neutrophilia, Excessive bleeding after a venipuncture, Hematemesis, Leukocytos... ORPHA:99829
Tangier Disease
Thrombocytopenia, Anemia, Hepatosplenomegaly ORPHA:31150
Mogs-Cdg
Thrombocytopenia, Hepatosplenomegaly ORPHA:79330
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Prolonged prothrombin time, Hepatosplenomegaly ORPHA:367
Classical Ehlers-Danlos Syndrome
Ecchymosis, Prolonged bleeding time, Bruising susceptibility ORPHA:287
Gaucher Disease Type 3
Splenomegaly, Thrombocytopenia, Pancytopenia, Anemia ORPHA:77261
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Hematemesis, Splenomegaly, Hematochezia, Anemia, Thrombocytopenia OMIM:615846
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Prolonged prothrombin time OMIM:214950
Cardiac-Urogenital Syndrome
Accessory spleen, Prolonged bleeding time OMIM:618280
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Thrombocytopenia OMIM:619005
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Leukopenia, Thrombocytopenia, Anemia, Hepatosplenomegaly ORPHA:505248
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Neutropenia, Subdural hemorrhage, Thrombocytopenia, Megaloblastic anemia ORPHA:79282
Dubowitz Syndrome
Acute lymphoblastic leukemia, Thrombocytopenia, Anemia, Abnormality of neutrophils ORPHA:235
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope... ORPHA:447
Nijmegen Breakage Syndrome
T lymphocytopenia, Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia OMIM:251260
Neuroleptic Malignant Syndrome
Thrombocytosis, Leukocytosis, Thrombocytopenia ORPHA:94093
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Intracranial hemorrhage, Thrombocytopenia, Anemia ORPHA:163979
Fibular Hemimelia
Thrombocytopenia ORPHA:93323
Acute Liver Failure
Abnormal bleeding, Gastrointestinal hemorrhage, Intracranial hemorrhage, Prolonged prothrombin ti... ORPHA:90062
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Leukocytosis, Prolonged bleeding following circumcision, Hepatosplenomegaly, Anemia... OMIM:274000
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Severe B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia OMIM:620005
Porphyria, Congenital Erythropoietic
Splenomegaly, Hemolytic anemia, Thrombocytopenia OMIM:263700
Congenital Disorder Of Glycosylation, Type Iiw
Microcytic anemia, Splenomegaly, Anemia, Prolonged prothrombin time, Bleeding with minor or no tr... OMIM:619525
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Prolonged prothrombin time OMIM:212065
Dyskeratosis Congenita
Anemia, Thrombocytopenia, Abnormality of neutrophils, Splenomegaly ORPHA:1775
Hypermethioninemia Due To Adenosine Kinase Deficiency
Prolonged prothrombin time OMIM:614300
Tick-Borne Encephalitis
Leukopenia, Leukocytosis, Thrombocytopenia ORPHA:297
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Splenomegaly, Thrombocytopenia OMIM:301072
Wilson Disease
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Anemia OMIM:277900
Brucellosis
Hypersplenism, Thrombocytopenia, Leukocytosis, Splenomegaly, Leukopenia, Thrombocytosis, Anemia, ... ORPHA:1304
Cholestasis, Progressive Familial Intrahepatic, 5
Prolonged prothrombin time OMIM:617049
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Thrombocytopenia, Acute leukemia ORPHA:647
Liver Failure, Infantile, Transient
Prolonged prothrombin time OMIM:613070
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Pancytopenia, Abnormality of the spleen, Thrombocytopenia, Sple... ORPHA:2072
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Anemia, Leukopenia, Elliptocytosis, Thrombocytopenia ORPHA:2785
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... OMIM:619573
Pearson Syndrome
Reticulocytosis, Pancytopenia, Splenomegaly, Anemia, Neutropenia, Hypoplastic spleen, Thrombocyto... ORPHA:699
Gaucher Disease
Abnormal bleeding, Pancytopenia, Splenomegaly, Anemia, Gingival bleeding, Thrombocytopenia ORPHA:355
Monosomy 13Q34
Hematochezia, Prolonged prothrombin time, Epistaxis ORPHA:96168
Primary Sjögren Syndrome
Normocytic anemia, Leukopenia, Normochromic anemia, Decreased proportion of CD4-positive helper T... ORPHA:289390
Lysinuric Protein Intolerance
Abnormal bleeding, Hepatosplenomegaly, Anemia, Leukopenia, Hemophagocytosis, Thrombocytopenia ORPHA:470
Deeah Syndrome
Decreased hemoglobin concentration, Thrombocytopenia OMIM:619004
Cornelia De Lange Syndrome 1
Thrombocytopenia OMIM:122470
Insulin-Resistance Syndrome Type B
Leukopenia, Thrombocytopenia ORPHA:2298
Chronic Visceral Acid Sphingomyelinase Deficiency
Abnormal bleeding, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Acute promyelocytic ... ORPHA:77293
Jacobsen Syndrome
Thrombocytopenia OMIM:147791
Systemic Lupus Erythematosus
Leukopenia, Hemolytic anemia, Thrombocytopenia ORPHA:536
Abetalipoproteinemia
Abnormal bleeding, Reticulocytosis, Acanthocytosis, Prolonged prothrombin time, Anemia ORPHA:14
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Splenomegaly, Melena, Prolonged prothrombin time, Anemia OMIM:276700
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Splenomegaly, Prolonged prothrombin time, Polycythemia ORPHA:309854
Kikuchi-Fujimoto Disease
Splenomegaly, Anemia, Leukopenia, Lymphocytosis, Neutropenia, Thrombocytopenia ORPHA:50918
S-Adenosylhomocysteine Hydrolase Deficiency
Prolonged prothrombin time ORPHA:88618
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Anemia, Leukopenia, Thrombocytopenia OMIM:305000
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Abnormality of thrombocytes, Splenomegaly, Hypoplasia of the thymus,... ORPHA:567
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Leukocytosis, Thrombocytopenia ORPHA:544482
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Leukopenia, Anemia, Thrombocytopenia ORPHA:84
Ogden Syndrome
Iron deficiency anemia, Polycythemia, Thrombocytopenia OMIM:300855
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal bleeding, Gastrointestinal hemorrhage, Hepatosplenomegaly, Prolonged prothrombin time, A... ORPHA:247598
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Hypersplenism, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia ORPHA:731
Exercise-Induced Malignant Hyperthermia
Abnormal bleeding, Thrombocytopenia ORPHA:466650
Jacobsen Syndrome
Thrombocytopenia ORPHA:2308
Hardikar Syndrome
Hematemesis, Splenomegaly, Hypersplenism, Hepatosplenomegaly, Thrombocytopenia OMIM:301068
Isolated Biliary Atresia
Splenomegaly, Prolonged prothrombin time ORPHA:30391
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged prothrombin time ORPHA:71212
Oculocerebrorenal Syndrome Of Lowe
Anemia, Thrombocytopenia ORPHA:534
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intraventricular hemorrhage, Prolonged prothrombin time OMIM:619055
Roberts Syndrome
Thrombocytopenia ORPHA:3103
Leptospirosis
Subconjunctival hemorrhage, Retinal hemorrhage, Thrombocytopenia, Pulmonary hemorrhage ORPHA:509
Combined Oxidative Phosphorylation Deficiency 37
Prolonged prothrombin time OMIM:618329
Congenital Disorder Of Glycosylation, Type It
Prolonged prothrombin time OMIM:614921
Osteogenesis Imperfecta
Thrombocytopenia, Bruising susceptibility, Cerebral hemorrhage ORPHA:666
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly, Prolonged prothrombin time, His... ORPHA:171
Proteasome-Associated Autoinflammatory Syndrome 1
Splenomegaly, Thrombocytopenia, Microcytic anemia OMIM:256040
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Chronic lymphatic leukemia, Hepatosplenomegaly ORPHA:51
Igg4-Related Dacryoadenitis And Sialadenitis
Thrombocytopenia ORPHA:79078
Sarcoidosis
Hemolytic anemia, Eosinophilia, Increased T cell count, Anemia, Leukopenia, Thrombocytopenia ORPHA:797
Noonan Syndrome 1
Abnormal bleeding, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Bruising s... OMIM:163950
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Prolonged prothrombin time OMIM:311250
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Splenomegaly, Prolonged prothrombin time ORPHA:404454
Liver Disease, Severe Congenital
Thrombocytopenia, Splenomegaly, Leukopenia, Lymphocytosis, Anemia OMIM:619991
Digeorge Syndrome
Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus, Anemia OMIM:188400
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To
OMIM:258660

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 Gp1ba

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 Gp1ba.

No publications found that use IMPC mice or data for Gp1ba.

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