Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
integrin alpha 2b
Synonyms:
GP IIb,  GpIIb,  platelet glycoprotein IIb,  CD41,  alphaIIb

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 Itga2b 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 Itga2b by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Itga2b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Platelet Aggregation, Spontaneous
Spontaneous platelet aggregation, Abnormal platelet function OMIM:173400
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Athrombia, Essential
Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggregation OMIM:209050
Thrombocytopenia 7
Impaired ADP-induced platelet aggregation, Impaired arachidonic acid-induced platelet aggregation... OMIM:619130
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Splenomegaly, Thrombocytopenia, Anemia, Abnormal hemoglobin, Abnormal... ORPHA:231393
Glanzmann Thrombasthenia 2
Epistaxis, Bruising susceptibility, Impaired ADP-induced platelet aggregation, Impaired epinephri... OMIM:619267
Platelet Signal Processing Defect
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... OMIM:173590
+173470 integrin, beta-3
Bruising susceptibility, Gastrointestinal hemorrhage, Impaired platelet aggregation, Purpura, Men... OMIM:173470
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation OMIM:618462
Glanzmann Thrombasthenia 1
Bruising susceptibility, Gastrointestinal hemorrhage, Impaired platelet aggregation, Purpura, Men... OMIM:273800
Bernard-Soulier Syndrome
Epistaxis, Gastrointestinal hemorrhage, Macrothrombocytopenia, Purpura, Menorrhagia, Gingival ble... OMIM:231200
Thrombocythemia 1
Thrombocytosis, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet agg... OMIM:187950
Bleeding Disorder, Platelet-Type, 24
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Imp... OMIM:619271
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Impaired platelet aggregation OMIM:615888
Platelet Glycoprotein Iv Deficiency
Giant platelets, Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time OMIM:608404
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia, Prolonged bleeding time OMIM:177820
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia OMIM:613112
Bleeding Disorder, Platelet-Type, 8
Persistent bleeding after trauma, Bruising susceptibility, Epistaxis, Impaired ADP-induced platel... OMIM:609821
Bleeding Disorder, Platelet-Type, 16
Petechiae, Impaired platelet aggregation, Macrothrombocytopenia, Platelet anisocytosis, Giant pla... OMIM:187800
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Von Willebrand Disease, Type 3
Persistent bleeding after trauma, Bruising susceptibility, Epistaxis, Impaired platelet aggregati... OMIM:277480
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Bruising susceptibility, Neutrophil inclusion bodies, Leukocyte inclusion bodies, Menorrhagia, Gi... OMIM:155100
Macrothrombocytopenia and progressive sensorineural deafness
Bruising susceptibility, Macrothrombocytopenia, Giant platelets, Thrombocytopenia, Prolonged blee... OMIM:600208
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Gray Platelet Syndrome
Bruising susceptibility, Abnormal number of alpha granules, Menorrhagia, Impaired collagen-induce... OMIM:139090
Glanzmann Thrombasthenia
Bruising susceptibility, Spontaneous hematomas, Ecchymosis, Gastrointestinal hemorrhage, Purpura,... ORPHA:849
Platelet Disorder, Undefined
Abnormal bleeding, Thrombocytopenia, Impaired platelet aggregation, Prolonged bleeding time OMIM:173420
Diamond-Blackfan Anemia 19
Anemia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618312
Sebastian syndrome
Leukocyte inclusion bodies, Giant platelets, Thrombocytopenia, Neutrophil inclusion bodies, Prolo... OMIM:605249
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Thrombocytopenia With Beta-Thalassemia, X-Linked
Bruising susceptibility, Petechiae, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Reticulocyt... OMIM:314050
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation, Bruising susceptibility, Ecchymosis... OMIM:614009
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Bruising susceptibility, Impaired platelet aggregation, Acute myeloid leukemia, Abnormal dense gr... OMIM:601399
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Moyamoya Disease With Early-Onset Achalasia
Raynaud phenomenon, Abnormal platelet aggregation, Hypertension, Thrombocytopenia ORPHA:401945
Von Willebrand Disease
Abnormal platelet function, Abnormality of thrombocytes ORPHA:903
Quebec Platelet Disorder
Bruising susceptibility, Impaired epinephrine-induced platelet aggregation, Menorrhagia, Joint he... OMIM:601709
Bleeding Disorder, Platelet-Type, 12
Bruising susceptibility, Impaired platelet aggregation, Menorrhagia, Intestinal bleeding, Joint h... OMIM:605735
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Slc35A1-Cdg
Giant platelets, Pulmonary hemorrhage, Thrombocytopenia, Abnormal platelet granules, Neutropenia,... ORPHA:238459
Von Willebrand Disease, Type 1
Gastrointestinal angiodysplasia, Persistent bleeding after trauma, Bruising susceptibility, Epist... OMIM:193400
Thrombocytopenia, Cyclic
Neutropenia, Cyclic neutropenia, Thrombocytopenia OMIM:188020
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Bleeding Disorder, Platelet-Type, 11
Bruising susceptibility, Ecchymosis, Menorrhagia, Prolonged bleeding time, Epistaxis OMIM:614201
Hermansky-Pudlak Syndrome 3
Bruising susceptibility, Impaired platelet aggregation, Gingival bleeding, Spontaneous, recurrent... OMIM:614072
Bleeding Disorder, Platelet-Type, 14
Bruising susceptibility, Prolonged bleeding time, Ecchymosis, Epistaxis OMIM:614158
Giant platelet syndrome with thrombocytopenia
Bruising susceptibility, Gastrointestinal hemorrhage, Prolonged bleeding after dental extraction,... OMIM:137560
Bleeding Disorder, Platelet-Type, 17
Bruising susceptibility, Petechiae, Ecchymosis, Gastrointestinal hemorrhage, Absence of alpha gra... OMIM:187900
Blue Rubber Bleb Nevus
Microcytic anemia, Intestinal bleeding, Volvulus, Gastrointestinal infarctions, Prolonged bleedin... ORPHA:1059
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis, Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time OMIM:188025
Amegakaryocytic Thrombocytopenia, Congenital
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia OMIM:604498
Factor V Deficiency
Bruising susceptibility, Menorrhagia, Abnormal bleeding, Prolonged prothrombin time, Prolonged bl... OMIM:227400
Bernard-Soulier Syndrome
Bruising susceptibility, Petechiae, Gastrointestinal hemorrhage, Macrothrombocytopenia, Menorrhag... ORPHA:274
Polycythemia Vera
Increased hemoglobin, Gastrointestinal hemorrhage, Leukocytosis, Cerebral hemorrhage, Thrombocyto... OMIM:263300
Bleeding Disorder, Platelet-Type, 21
Menorrhagia, Thrombocytopenia, Impaired platelet aggregation OMIM:617443
Prothrombin Deficiency, Congenital
Bruising susceptibility, Ecchymosis, Gastrointestinal hemorrhage, Menorrhagia, Gingival bleeding,... OMIM:613679
Fechtner syndrome
Bruising susceptibility, Neutrophil inclusion bodies, Leukocyte inclusion bodies, Menorrhagia, Gi... OMIM:153640
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Essential Thrombocythemia
Myocardial infarction, Splenomegaly, Transient ischemic attack, Abnormality of thrombocytes, Acut... ORPHA:3318
Myh9-Related Disease
Congenital thrombocytopenia, Bruising susceptibility, Menorrhagia, Giant platelets, Myocardial in... ORPHA:182050
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Impaired platelet aggr... OMIM:300835
Hermansky-Pudlak Syndrome 7
Bruising susceptibility, Abnormal bleeding, Epistaxis, Impaired platelet aggregation OMIM:614076
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormal platelet function, Hypoplastic anemia, Spl... ORPHA:2585
Sitosterolemia 1
Abnormality of the liver, Impaired platelet aggregation, Giant platelets, Splenomegaly, Abdominal... OMIM:210250
Hermansky-Pudlak Syndrome 5
Bruising susceptibility, Menorrhagia, Thrombocytopenia, Prolonged bleeding time, Abnormal bleedin... OMIM:614074
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Anemia, Leukopenia, Thrombocytopenia OMIM:167850
Storage Pool Platelet Disease
Prolonged bleeding time, Decreased mean platelet volume, Abnormal bleeding, Acute leukemia OMIM:185050
Hermansky-Pudlak Syndrome 6
Bruising susceptibility, Impaired ADP-induced platelet aggregation, Ecchymosis, Abnormal platelet... OMIM:614075
Hemophilia B
Delayed onset bleeding, Prolonged bleeding after dental extraction, Spontaneous, recurrent epista... ORPHA:98879
Immune Thrombocytopenia
Bruising susceptibility, Petechiae, Gastrointestinal hemorrhage, Gingival bleeding, Thrombocytope... ORPHA:3002
Congenital Factor X Deficiency
Abnormal umbilical stump bleeding, Bruising susceptibility, Epistaxis, Gastrointestinal hemorrhag... ORPHA:328
Congenital Factor Vii Deficiency
Epistaxis, Bruising susceptibility, Gastrointestinal hemorrhage, Menorrhagia, Gingival bleeding, ... ORPHA:327
Immunodeficiency 81
Reduced antigen-specific T cell proliferation, Petechiae, Impaired neutrophil chemotaxis, Reduced... OMIM:619374
Deafness-Lymphedema-Leukemia Syndrome
Bruising susceptibility, Leukocytosis, Bone marrow hypocellularity, Abnormal neutrophil count, My... ORPHA:3226
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:615193
Eosinophilia, Familial
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia OMIM:131400
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Neutropenia, Anemia, Increased circulating antibody level, Thrombocytop... OMIM:615285
Gray Platelet Syndrome
Bruising susceptibility, Splenomegaly, Thrombocytopenia, Abnormality of thrombocytes, Abnormal bl... ORPHA:721
Neurofibromatosis-Noonan Syndrome
Hypertrophic cardiomyopathy, Pulmonic stenosis, Dysphagia, Abnormality of the lymphatic system, P... ORPHA:638
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Hermansky-Pudlak Syndrome 11
Bruising susceptibility, Menorrhagia, Gingival bleeding, Impaired collagen-induced platelet aggre... OMIM:619172
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Poor suck, Esophageal neoplasm, Gastrointestinal hemorrhage, Ascites, Gastroesophageal reflux, He... ORPHA:2198
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Anemia, Sideroblastic, 5
Neutropenia, Anemia, Thrombocytopenia, Reduced hematocrit, Hypochromic microcytic anemia OMIM:619523
Combined Deficiency Of Factor V And Factor Viii
Epistaxis, Bruising susceptibility, Gastrointestinal hemorrhage, Menorrhagia, Prolonged bleeding ... ORPHA:35909
Congenital Factor Ii Deficiency
Abnormal umbilical stump bleeding, Epistaxis, Oral cavity bleeding, Prolonged bleeding following ... ORPHA:325
Klippel-Trénaunay Syndrome
Microcytic anemia, Gastrointestinal hemorrhage, Congestive heart failure, Pulmonary embolism, Hep... ORPHA:90308
Familial Hypofibrinogenemia
Gingival bleeding, Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis ORPHA:101041
Familial Dysfibrinogenemia
Gingival bleeding, Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis ORPHA:98881
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Anemia, Hypochromia OMIM:205950
Diamond-Blackfan Anemia 13
Normocytic anemia, Elevated red cell adenosine deaminase level OMIM:615909
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Portal hypertension, Gastrointestinal hemorrhage, Hyperspleni... ORPHA:64743
Acquired Von Willebrand Syndrome
Hypochromic anemia, Persistent bleeding after trauma, Bruising susceptibility, Gastrointestinal a... ORPHA:99147
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Anemia, Hypochromia OMIM:206100
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Plasma Clot Retraction Factor, Deficiency Of
Bruising susceptibility, Gastrointestinal hemorrhage OMIM:262800
Bone Marrow Failure Syndrome 2
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia OMIM:615715
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Thrombocytopenia OMIM:133180
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly ORPHA:294
Factor Vii And Factor Viii, Combined Deficiency Of
Intestinal bleeding OMIM:134430
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Splenomegaly, Hepatomegaly, Jaundice, Malabsorption, Biliary tract a... ORPHA:79301
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Acute myeloid leukemia, Thrombocytopenia OMIM:252270
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Sideroblastic anemia, Hepatosplenomegaly, Pyridoxine-responsive sideroblastic anemia, Decreased m... OMIM:206000
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia ORPHA:3319
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Fetal And Neonatal Alloimmune Thrombocytopenia
Petechiae, Ecchymosis, Gastrointestinal hemorrhage, Purpura, Subarachnoid hemorrhage, Neonatal al... ORPHA:853
Spastic Paraplegia And Evans Syndrome
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia OMIM:601608
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Macrothrombocytopenia, Pulmonary hemorrhage, Thrombocytopenia, Neutropenia,... OMIM:603585
Diamond-Blackfan Anemia 18
Neutropenia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618310
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Sea-Blue Histiocyte Disease
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Dengue Fever
Bruising susceptibility, Petechiae, Leukopenia, Gastrointestinal hemorrhage, Gingival bleeding, H... ORPHA:99828
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Neutropenia, Macrocytic anemia, Normochromic anem... ORPHA:98826
Isolated Polycystic Liver Disease
Feeding difficulties in infancy, Gastrointestinal hemorrhage, Abnormality of the pancreas, Gastro... ORPHA:2924
Colonic Varices Without Portal Hypertension
Colonic varices, Intestinal bleeding OMIM:120440
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Reduced natural killer cell activity, Thrombocytopenia, Decreased... OMIM:614493
Hermansky-Pudlak Syndrome 8
Bruising susceptibility, Impaired platelet aggregation, Menorrhagia, Gingival bleeding, Abnormal ... OMIM:614077
Congenital Factor V Deficiency
Persistent bleeding after trauma, Bruising susceptibility, Hematochezia, Spontaneous hematomas, G... ORPHA:326
Fanconi Anemia, Complementation Group T
Pancytopenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity OMIM:616435
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia ORPHA:2802
Autoerythrocyte Sensitization Syndrome
Bruising susceptibility, Nausea, Ecchymosis, Gastrointestinal hemorrhage, Oral cavity bleeding, T... ORPHA:324636
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Neutropenia, Anemia, Increased... OMIM:619041
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Iron deficiency anemia, Elevated propor... OMIM:603909
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia ORPHA:517
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Burkitt Lymphoma
Abnormality of the liver, Gastrointestinal hemorrhage, Abnormality of the pancreas, Decreased pro... ORPHA:543
Hyperlysinemia, Type I
Anemia OMIM:238700
Hemophilia A
Splenic rupture, Gastrointestinal hemorrhage, Oral cavity bleeding, Joint hemorrhage, Bleeding wi... ORPHA:98878
Aggressive Systemic Mastocytosis
Pancytopenia, Gastrointestinal hemorrhage, Anemia, Ascites, Hypersplenism, Thrombocytopenia, Diar... ORPHA:98850
Heinz Body Anemias
Heinz bodies, Heinz body anemia, Nonspherocytic hemolytic anemia OMIM:140700
Wiskott-Aldrich Syndrome
Microcytic anemia, Anemia, Hematemesis, Abnormal platelet morphology, Hypoplasia of the thymus, T... ORPHA:906
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased circulating total IgM, Increased circulating IgA level, Gingival bleeding, Absent micro... OMIM:600903
Angioma, Hereditary Neurocutaneous
Gastrointestinal hemorrhage OMIM:106070
Cernunnos-Xlf Deficiency
T lymphocytopenia, Thrombocytopenia, Decreased circulating antibody level, Anemia, B lymphocytope... ORPHA:169079
Thrombocythemia 2
Thrombocytosis OMIM:601977
Mixed Connective Tissue Disease
Leukopenia, Gastrointestinal hemorrhage, Purpura, Gastroesophageal reflux, Myocarditis, Splenomeg... ORPHA:809
Severe Hemophilia A
Persistent bleeding after trauma, Bruising susceptibility, Epistaxis, Gastrointestinal hemorrhage... ORPHA:169802
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding OMIM:600195
Fanconi Anemia, Complementation Group G
Neutropenia, Anemia, Thrombocytopenia, Leukemia OMIM:614082
Hermansky-Pudlak Syndrome 2
Impaired ADP-induced platelet aggregation, Hepatosplenomegaly, Reduced natural killer cell activi... OMIM:608233
Chromosome 5Q Deletion Syndrome
Anemia of inadequate production, Erythroid hypoplasia, Refractory macrocytic anemia OMIM:153550
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia ORPHA:295
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Decreased proportion of CD4-positive helper T cells, Iron deficiency... OMIM:301000
Ebola Hemorrhagic Fever
Nausea, Acute pancreatitis, Leukopenia, Gastrointestinal hemorrhage, Thrombocytopenia, Increased ... ORPHA:319218
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Congenital Factor Xi Deficiency
Gastrointestinal hemorrhage, Menorrhagia, Prolonged bleeding after dental extraction, Joint hemor... ORPHA:329
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Acute Erythroid Leukemia
Pancytopenia, Leukopenia, Bone marrow hypocellularity, Anemia, Erythroid hypoplasia ORPHA:318
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Hermansky-Pudlak Syndrome 1
Hematochezia, Bruising susceptibility, Ecchymosis, Colitis, Gingival bleeding, Inflammation of th... OMIM:203300
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Congenital Fibrinogen Deficiency
Abnormal umbilical stump bleeding, Bruising susceptibility, Splenic rupture, Left ventricular hyp... ORPHA:335
Ménétrier Disease
Nausea, Gastrointestinal hemorrhage, Giant hypertrophic gastritis, Helicobacter pylori infection,... ORPHA:2494
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Acquired Purpura Fulminans
Hepatic failure, Macular purpura, Thrombocytopenia, Intracranial hemorrhage, Prolonged prothrombi... ORPHA:49566
Cholestasis-Lymphedema Syndrome
Portal hypertension, Gastrointestinal hemorrhage, Splenomegaly, Hepatomegaly, Jaundice, Nausea an... ORPHA:1414
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Bone marrow ... ORPHA:75564
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Typhoid
Cardiac arrest, Gastrointestinal hemorrhage, Arrhythmia, Constipation, Splenomegaly, Hepatomegaly... ORPHA:99745
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Gastric ulcer, Impaired platelet aggregation, Duodenal ulcer, Iron deficiency anemia, Esophageal ... OMIM:618372
Transcobalamin Deficiency
Pancytopenia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased circula... ORPHA:859
Thrombocytopenia 5
Neutropenia, Anemia, Thrombocytopenia OMIM:616216
Immunodeficiency 62
Autoimmune thrombocytopenia OMIM:618459
Factor X Deficiency
Menorrhagia, Gingival bleeding, Joint hemorrhage, Prolonged prothrombin time, Intracranial hemorr... OMIM:227600
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia OMIM:314000
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Incre... OMIM:202700
Budd-Chiari Syndrome
Portal hypertension, Gastrointestinal hemorrhage, Cirrhosis, Peritonitis, Cholecystitis, Splenome... ORPHA:131
Wolfram Syndrome 2
Decreased circulating antibody level, Gastric ulcer, Abnormal bleeding, Impaired collagen-induced... OMIM:604928
Nephrotic Syndrome, Type 7
Hemolytic anemia, Thrombocytopenia OMIM:615008
Nephronophthisis
Anemia ORPHA:655
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly OMIM:312500
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Pancytopenia, Portal hypertension, Gastrointestinal hemorrhage, Esophageal varix, Retinal telangi... OMIM:617341
Malaria
Anemia, Thrombocytopenia ORPHA:673
Ataxia-Pancytopenia Syndrome
Pancytopenia, Hypoplastic anemia, Neutropenia, Anemia, Thrombocytopenia, Acute myelomonocytic leu... OMIM:159550
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Bruising susceptibility, Petechiae, Ecchymosis, Increased mean platelet volume, Menorrhagia, Ging... OMIM:153670
Hemophilia B
Persistent bleeding after trauma, Joint hemorrhage, Gastrointestinal hemorrhage, Abnormal bleeding OMIM:306900
Hemophilia A With Vascular Abnormality
Persistent bleeding after trauma, Bruising susceptibility, Capillary fragility, Gastrointestinal ... OMIM:306800
Leukocyte Adhesion Deficiency, Type Iii
Petechiae, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Abnormality of t... OMIM:612840
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Fanconi Anemia, Complementation Group V
Neutropenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity OMIM:617243
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia, HbH hemoglobin OMIM:613978
Malignant Atrophic Papulosis
Gastrointestinal infarctions, Constrictive pericarditis, Gastrointestinal hemorrhage OMIM:602248
Rhabdoid Tumor
Neoplasm of the liver, Anemia, Abdominal pain, Nausea and vomiting, Hypertension, Lymphadenopathy... ORPHA:69077
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Granulocytopenia, Reduced natural killer cell activity, Hemophagocytosis, Anemia OMIM:608898
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Increased circulating antibody level, Ab... OMIM:618495
Polycythemia Vera
Bruising susceptibility, Portal hypertension, Gastrointestinal hemorrhage, Gingival bleeding, Pul... ORPHA:729
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Ganglioneuroma
Colorectal polyposis, Gastrointestinal hemorrhage, Multiple intestinal neurofibromatosis, Hamarto... ORPHA:251992
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Intestinal perforation, Hematochezia, Morphological abnormality of the gastrointestinal tract, Bl... ORPHA:464321
Cryoglobulinemic Vasculitis
Viral hepatitis, Petechiae, Abnormality of the liver, Gastrointestinal hemorrhage, Splenomegaly, ... ORPHA:91138
Moderate Hemophilia A
Gastrointestinal hemorrhage, Subcutaneous hemorrhage, Prolonged bleeding after dental extraction,... ORPHA:169805
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failure, Dysphagia, Abnormal intestine ... ORPHA:85446
Immunodeficiency 46
Neutropenia, Anemia, Intermittent thrombocytopenia, Decreased circulating antibody level OMIM:616740
Congenital Atransferrinemia
Anemia ORPHA:1195
Peutz-Jeghers Syndrome
Esophageal neoplasm, Abnormality of the gastrointestinal tract, Gastrointestinal carcinoma, Gastr... ORPHA:2869
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Increased circulating IgA level, Peritonitis, Hepatomegaly, Recurren... ORPHA:343
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Oval macrocytosis, Anisocytosis, Poikilocytosis OMIM:603529
Mgat2-Cdg
Decreased circulating IgG level, Arrhythmia, Impaired platelet aggregation, Gastroesophageal refl... ORPHA:79329
Niemann-Pick Disease, Type B
Splenomegaly, Anemia, Bone-marrow foam cells, Thrombocytopenia, Sea-blue histiocytosis OMIM:607616
Immunodeficiency 48
Hepatomegaly, Panhypogammaglobulinemia, Splenomegaly, Diarrhea OMIM:269840
Trimethylaminuria
Splenomegaly, Neutropenia, Anemia, Hypertension, Tachycardia OMIM:602079
Portal Hypertension, Noncirrhotic, 2
Petechiae, Portal hypertension, Ecchymosis, Splenomegaly, Hepatomegaly, Esophageal varix, Nodular... OMIM:619463
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
Diffuse Cutaneous Mastocytosis
Abnormality of the liver, Gastrointestinal hemorrhage, Myeloproliferative disorder, Hypotension, ... ORPHA:79456
Cyanosis, Transient Neonatal
Reticulocytosis, Anemia, Methemoglobinemia OMIM:613977
Mastocytosis
Chronic leukemia, Mastocytosis, Gastrointestinal hemorrhage, Arrhythmia, Hypotension, Splenomegal... ORPHA:98292
Waldenström Macroglobulinemia
Monoclonal immunoglobulin M proteinemia, Gastrointestinal hemorrhage, Retinal hemorrhage, Congest... ORPHA:33226
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Decreased circulating antibody level, Anemia,... OMIM:613101
Bone Marrow Failure Syndrome 4
Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level, Anemia, Thrombocyt... OMIM:618116
Autoimmune Hepatitis
Spider hemangioma, Viral hepatitis, Sclerosing cholangitis, Increased circulating IgG level, Gast... ORPHA:2137
Osteopetrosis, Autosomal Recessive 8
Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Anemia of inadequate production, Congenital thrombocytopenia, Poikilocytosis, Acanthocytosis OMIM:300367
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Persistent bleeding after trauma, Epistaxis, Gastrointestinal hemorrhage, Subcutaneous hemorrhage... ORPHA:465
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Esophageal neoplasm, Neoplasm of the gastrointestinal tract, Abnor... ORPHA:44890
Immunodeficiency 69
Pancytopenia, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Splenomegaly, Anemia OMIM:618963
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia OMIM:603552
Erythrocytosis, Familial, 1
Increased hemoglobin, Increased hematocrit, Myocardial infarction, Splenomegaly, Hypertension, Ce... OMIM:133100
Hereditary Amyloidosis With Primary Renal Involvement
Intestinal perforation, Nausea, Petechiae, Hepatosplenomegaly, Gastrointestinal hemorrhage, Abnor... ORPHA:85450
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Neutropenia, Anemia, Congenital thrombocytopenia, Thrombocytopenia OMIM:616738
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Wolfram Syndrome, Mitochondrial Form
Neutropenia, Megaloblastic anemia, Sideroblastic anemia, Thrombocytopenia OMIM:598500
Dentinogenesis Imperfecta
Bruising susceptibility, Prolonged bleeding time ORPHA:49042
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Abnormal basophil morpho... ORPHA:521
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anisocytosis, Reduced red cell pyruvate kinase level, Anemia, Chronic hemolytic ane... ORPHA:766
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Splenomegaly, Cutaneous anergy, Decreased helper T cell proportion, Hypersplenism OMIM:183350
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Prolonged prothrombin time, Abnormal bleeding, Epistaxis OMIM:610842
Relapsing Fever
Leukopenia, Leukocytosis, Neutrophilia, Hypotension, Thrombocytopenia, Jaundice, Anemia, Abdomina... ORPHA:91547
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hypersplenism, Thrombocytopenia, Splenomegaly OMIM:610539
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Mpi-Cdg
Portal hypertension, Gastrointestinal hemorrhage, Decreased liver function, Hepatomegaly, Protein... ORPHA:79319
Ghosal Hematodiaphyseal Dysplasia
Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Refractory anemia OMIM:231095
Chédiak-Higashi Syndrome
Pancytopenia, Bruising susceptibility, Abnormal platelet function, Hepatosplenomegaly, Vacuolated... ORPHA:167
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Feeding difficulties in infancy, Reduced natural killer cell activity, Diffuse alve... OMIM:616050
Anemia, Sideroblastic, 1
Anemia of inadequate production, Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic ... OMIM:300751
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Thrombocytopenia OMIM:610329
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Hereditary Hemorrhagic Telangiectasia
Microcytic anemia, Hepatic failure, Gastrointestinal hemorrhage, Abnormal cardiovascular system p... ORPHA:774
Wt Limb-Blood Syndrome
Pancytopenia, Thrombocytopenia, Leukemia, Hypoplastic anemia OMIM:194350
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hemolytic anemia, Lymphad... ORPHA:444463
Solitary Rectal Ulcer Syndrome
Hematochezia, Bloody diarrhea, Intermittent diarrhea, Stercoral ulcer, Bloody mucoid diarrhea, Re... ORPHA:209964
Desmoid Tumor
Gastrointestinal hemorrhage, Desmoid tumors, Abdominal pain, Malabsorption, Intestinal polyposis,... ORPHA:873
Anemia, Hypochromic Microcytic, With Iron Overload 2
Poikilocytosis, Splenomegaly, Anemia, Decreased mean corpuscular volume, Hypochromia OMIM:615234
Anemia, Congenital Dyserythropoietic, Type Ib
Splenomegaly, Anisocytosis, Anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate ... OMIM:615631
Carney Triad
Gastrointestinal stroma tumor, Gastrointestinal hemorrhage, Arrhythmia, Anorexia, Anemia, Abdomin... ORPHA:139411
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Thrombocytopenia OMIM:617021
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Erythroid hyperplasia OMIM:237800
Idiopathic Aplastic Anemia
Pancytopenia, Bone marrow hypocellularity, Neutropenia, Anemia, Reticulocytopenia, Thrombocytopenia ORPHA:88
Primary Myelofibrosis
Pancytopenia, Petechiae, Portal hypertension, Ecchymosis, Hepatosplenomegaly, Leukocytosis, Throm... ORPHA:824
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Decreased circulating IgG level, Hepatic failure, Reduced natural killer cell activ... OMIM:308240
Babesiosis
Hepatic failure, Leukopenia, Congestive heart failure, Myocardial infarction, Splenomegaly, Anore... ORPHA:108
Polymyositis
Dilated cardiomyopathy, Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failure, Consti... ORPHA:732
Al Amyloidosis
Bruising susceptibility, Abnormality of the gastrointestinal tract, Abnormality of the liver, Gas... ORPHA:85443
Sea-Blue Histiocytosis
Petechiae, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy, Abnormal bl... ORPHA:158029
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Increased circulating IgG level, Increased circulating IgM level, Coombs-positive h... OMIM:601859
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Thrombocytopenia OMIM:616744
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy, Anorexia ORPHA:52416
Whipple Disease
Gastrointestinal hemorrhage, Myocardial infarction, Hypotension, Myocarditis, Splenomegaly, Anore... ORPHA:3452
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Chronic diarrhea, Cervical lymphadenopathy, Hepatomegaly, Abdominal ... OMIM:142680
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly OMIM:273680
Osteopetrosis, Autosomal Recessive 4
Petechiae, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia OMIM:611490
Bone Marrow Failure Syndrome 5
Anemia, Decreased circulating antibody level, Pure red cell aplasia OMIM:618165
Blue Rubber Bleb Nevus
Abnormality of the liver, Intussusception, Rectal prolapse, Iron deficiency anemia, Intestinal bl... OMIM:112200
Anemia, Congenital Dyserythropoietic, Type Ia
Poikilocytosis, Splenomegaly, Anisocytosis, Erythroid hyperplasia, Reticulocytosis, Anemia of ina... OMIM:224120
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Amed Syndrome, Digenic
Leukopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Anemia, Thrombocytopenia OMIM:619151
Alpha-Heavy Chain Disease
Dysgammaglobulinemia, Splenomegaly, Abnormality of the small intestine, Hepatomegaly, Anemia, Abd... ORPHA:100025
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Megaloblastic anemia, Thrombocytopenia OMIM:613839
Hermansky-Pudlak Syndrome 9
Leukopenia, Thrombocytopenia OMIM:614171
Hydrops Fetalis, Nonimmune
Anemia OMIM:236750
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity OMIM:613987
Classical-Like Ehlers-Danlos Syndrome Type 1
Bruising susceptibility, Gastrointestinal hemorrhage, Arrhythmia ORPHA:230839
Simple Cryoglobulinemia
Monoclonal elevation of IgG, Viral hepatitis, Monoclonal immunoglobulin M proteinemia, Abnormalit... ORPHA:91139
Aicardi-Goutieres Syndrome 7
Feeding difficulties, Splenomegaly, Hepatomegaly, Increased circulating antibody level, Vasculiti... OMIM:615846
Macs Syndrome
Bruising susceptibility, Prolonged bleeding time OMIM:613075
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Alpha-Thalassemia
Microcytic anemia, Splenomegaly, Anemia, Hemolytic anemia, Abnormal hemoglobin, Hypersplenism ORPHA:846
Hellp Syndrome
Nausea, Decreased mean corpuscular hemoglobin concentration, Vomiting, Hypotension, Abdominal pai... ORPHA:244242
Combined Oxidative Phosphorylation Deficiency 14
Anemia, Thrombocytopenia OMIM:614946
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Coproporphyria, Hereditary
Constipation, Splenomegaly, Hepatomegaly, Jaundice, Abdominal pain, Hypertension, Tachycardia, Di... OMIM:121300
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia ORPHA:2123
Neonatal Lupus Erythematosus
Pancytopenia, Dilated cardiomyopathy, Hepatic failure, Abnormality of the liver, Arrhythmia, Sple... ORPHA:398124
Lymphoproliferative Syndrome 1
Pancytopenia, Decreased circulating IgG level, Leukopenia, Autoimmune hemolytic anemia, Autoimmun... OMIM:613011
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:848
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Thrombocytopenia, Anorexi... ORPHA:507
Adams-Oliver Syndrome
Leukopenia, Portal hypertension, Gastrointestinal hemorrhage, Pulmonary arterial hypertension, Es... ORPHA:974
Diamond-Blackfan Anemia 20
Anemia, Erythroid hypoplasia OMIM:618313
Immunodeficiency 104
T lymphocytopenia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Diarrhea OMIM:608971
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating antibody level, Thrombocytopenia OMIM:618048
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Diamond-Blackfan Anemia 12
Reticulocytopenia, Normochromic anemia, Macrocytic anemia, Elevated red cell adenosine deaminase ... OMIM:615550
Congenital Dyserythropoietic Anemia Type Iii
Oral cavity bleeding, Gingival bleeding, Anisocytosis, Post-partum hemorrhage, Anemia, Increased ... ORPHA:98870
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Inc... OMIM:614470
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Neuroendocrine Tumor Of Stomach
Hepatic failure, Protracted diarrhea, Iron deficiency anemia, Hematemesis, Facial telangiectasia,... ORPHA:100075
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failure, Peritonitis, Pancreatitis, Abd... ORPHA:727
Transaldolase Deficiency
Anemia, Hepatosplenomegaly, Thrombocytopenia ORPHA:101028
Folate Malabsorption, Hereditary
Neutropenia, Leukopenia, Thrombocytopenia, Folate-responsive megaloblastic anemia OMIM:229050
Hemochromatosis, Type 2B
Congestive heart failure, Splenomegaly, Hepatomegaly, Anemia, Cardiomyopathy, Cirrhosis, Hepatic ... OMIM:613313
Gaucher Disease, Type I
Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, Pulmonary arterial hypertension, Anem... OMIM:230800
Sengers Syndrome
Thrombocytopenia OMIM:212350
Immunodeficiency 27A
Increased circulating IgG level, Hepatosplenomegaly, Histiocytosis, Increased circulating IgM lev... OMIM:209950
Infantile Liver Failure Syndrome 2
Jaundice, Acute hepatic failure, Cardiomyopathy, Prolonged prothrombin time, Vomiting OMIM:616483
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased circulatin... OMIM:617514
Juvenile Polyposis Of Infancy
Hematochezia, Gastrointestinal hemorrhage, Intussusception, Rectal prolapse, Anemia, Abdominal pa... ORPHA:79076
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Pancytopenia, Thrombocytosis, Megaloblastic anemia, Decreased circulating antibody level, Macrocy... OMIM:617780
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Feeding difficulties, Anorexia, Hepatomegaly, Neutropenia, Anemia, Abdominal pain, ... ORPHA:79312
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatic steatosis, Hepatosplenomegaly, Gastrointestinal hemorrhage, Cholestasis, Decreased circul... ORPHA:247598
Dermatosparaxis Ehlers-Danlos Syndrome
Esophagitis, Gastroesophageal reflux, Prolonged bleeding time, Hiatus hernia ORPHA:1901
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Sudden cardiac death, Myocardial infarction, Abnormality of neutroph... ORPHA:36426
Schnitzler Syndrome
Leukocytosis, Increased circulating IgM level, Splenomegaly, Hepatomegaly, Anemia, Vasculitis, Ly... ORPHA:37748
Sandhoff Disease
Splenomegaly, Hepatomegaly, Congestive heart failure ORPHA:796
Immunodeficiency 64
Decreased circulating IgG level, Increased circulating IgG level, Hepatosplenomegaly, Increased c... OMIM:618534
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia ORPHA:67048
Imerslund-Gräsbeck Syndrome
Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Systemic Lupus Erythematosus
Leukopenia, Thrombocytopenia, Hemolytic anemia OMIM:152700
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Retinal hemorrhage, Congestive heart failure, Restrictive cardiomyop... OMIM:264800
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level OMIM:616576
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Intestinal malrotation, Abnormal intestine morphology, Abnormal platelet morpho... ORPHA:2978
Tufted Angioma
Anemia, Thrombocytopenia ORPHA:1063
Isovaleric Acidemia
Pancytopenia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia OMIM:243500
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Splenomegaly, Jaundice OMIM:206400
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Bloody diarrhea, Leukocytosis, Agammaglobulinemia, Thrombocytosis, Intestinal malro... OMIM:243150
Eosinophilic Gastroenteritis
Hematochezia, Eosinophilia, Abnormality of the gastrointestinal tract, Leukocytosis, Ascites, Ane... ORPHA:2070
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Normocytic anemia, Telangiectasia, Retinal neovascularization, Normo... ORPHA:247691
Neuroendocrine Tumor Of The Rectum
Hematochezia, Bloody diarrhea, Constipation, Protracted diarrhea, Hypotension, Anorexia, Hepatome... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hematochezia, Bloody diarrhea, Constipation, Protracted diarrhea, Hypotension, Anorexia, Hepatome... ORPHA:100082
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly, Hepatomegaly, Restrictive cardiomyopathy OMIM:607685
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia, Abnormality of thrombocytes ORPHA:3204
Noonan Syndrome
Feeding difficulties in infancy, Abnormal platelet function, Arrhythmia, Hepatomegaly, Abnormalit... ORPHA:648
Kasabach-Merritt Syndrome
Petechiae, Leukopenia, Hepatic hemangioma, Thrombocytopenia, Abnormal lymphatic vessel morphology... ORPHA:2330
Gaucher Disease, Type Ii
Anemia, Thrombocytopenia, Splenomegaly OMIM:230900
Hermansky-Pudlak Syndrome 4
Bruising susceptibility, Menorrhagia, Abnormal platelet granules, Abnormal bleeding, Epistaxis OMIM:614073
Vitamin B12-Unresponsive Methylmalonic Acidemia
Anemia, Leukopenia, Thrombocytopenia, Macrocytic anemia ORPHA:27
Infantile Liver Failure Syndrome 3
Hepatic steatosis, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatomegaly, Jaundice, ... OMIM:618641
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Subconjunctival hemorrhage, Hepatic failure, Bundle branch block, Subdural hemorrha... ORPHA:99827
Acute Liver Failure
Bruising susceptibility, Nausea, Gastrointestinal hemorrhage, Shock, Hypotension, Thrombocytopeni... ORPHA:90062
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Splenomegaly, Hepatomegaly, Jaundice, Malabsorption, Abnormality of thrombocytes ORPHA:172
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Anemia of inadequate production, Hemolytic anemia, Elliptocytosis OMIM:166910
Somatostatinoma
Gastrointestinal hemorrhage, Constipation, Gallbladder dysfunction, Anorexia, Hepatomegaly, Extra... ORPHA:97283
Pseudoxanthoma Elasticum
Bruising susceptibility, Gastrointestinal hemorrhage, Retinal hemorrhage, Sudden cardiac death, T... ORPHA:758
Toxic Epidermal Necrolysis
Intestinal perforation, Gastrointestinal hemorrhage, Tracheoesophageal fistula, Sudden cardiac de... ORPHA:537
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Absent circulating B cells, Agammaglobulinemia OMIM:619693
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Thrombocytopenia ORPHA:49827
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased T cell activation, Autoimmune thrombocytopenia, Decreased CD69 upregulation upon TCR ac... OMIM:300853
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgG level, Increased circulating IgM level, Autoimmune hemolytic anemia, Au... OMIM:619220
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Decreased specific pneumococcal antibody level, Increased circulating IgM leve... OMIM:615513
Fetal Gaucher Disease
Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, Abnormality of the spleen, Intracrani... ORPHA:85212
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Bone marrow hypocellularity, Monocytosis, Acute myeloid leukemia, Refractory anemia OMIM:616871
Congenital Toxoplasmosis
Anemia, Thrombocytopenia ORPHA:858
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612926
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Increased circulating antibody level, Anemia, Abnormal B cell count, ... ORPHA:100024
Formiminoglutamic Aciduria
Megaloblastic anemia, Anemia ORPHA:51208
Omenn Syndrome
Eosinophilia, Splenomegaly, Severe B lymphocytopenia, Anemia, B lymphocytopenia, Hypoplasia of th... OMIM:603554
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Neutropenia, Anemia, Thrombocytopenia ORPHA:289916
Yellow Fever
Nausea, Pancreatic hyperplasia, Hematemesis, Prolonged prothrombin time, Thrombocytopenia, Diarrh... ORPHA:99829
Malignant Atrophic Papulosis
Intestinal perforation, Gastrointestinal hemorrhage, Peritonitis, Myocardial infarction, Arteriti... ORPHA:679
Carney-Stratakis Syndrome
Gastrointestinal stroma tumor, Gastrointestinal hemorrhage, Abdominal pain, Dysphagia, Intestinal... ORPHA:97286
Glucagonoma
Gastrointestinal hemorrhage, Constipation, Intrahepatic cholestasis, Intermittent jaundice, Abnor... ORPHA:97280
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... ORPHA:3203
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Neoplasm of the rectum, Neoplasm of the liver, Rectal prolapse, Abdominal pain, An... ORPHA:424019
Ppoma
Cholelithiasis, Intestinal carcinoid, Gastrointestinal hemorrhage, Constipation, Ascites, Anorexi... ORPHA:97278
Primary Familial Polycythemia
Abdominal pain, Polycythemia, Abnormal hemoglobin, Abnormal bleeding, Epistaxis ORPHA:90042
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Hepatic steatosis, Congestive heart failure, Cerebellar hemorrhage, Hyper... ORPHA:99901
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Thrombocytopenia OMIM:254900
Duodenal Neuroendocrine Tumor
Nausea, Hepatic failure, Intestinal carcinoid, Iron deficiency anemia, Hematemesis, Gastrointesti... ORPHA:100076
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Splenomegaly OMIM:231000
Neuroendocrine Tumor Of The Colon
Bloody diarrhea, Protracted diarrhea, Hypotension, Anorexia, Hepatomegaly, Abdominal pain, Chroni... ORPHA:100080
Hermansky-Pudlak Syndrome
Bruising susceptibility, Gastrointestinal hemorrhage, Anorexia, Neutropenia, Abdominal pain, Card... ORPHA:79430
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia ORPHA:158014
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hemolytic anem... OMIM:616689
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgA level... OMIM:607594
Isolated Agammaglobulinemia
Abnormality of neutrophils, Anemia, Abnormal lymphocyte morphology, Thrombocytopenia ORPHA:229717
Aicardi-Goutieres Syndrome 4
Pancytopenia, Hepatosplenomegaly, Thrombocytopenia, Splenomegaly OMIM:610333
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Schistocytosis, Reticulocytosis, Macrocytic anemia, Increased mean corpuscular he... ORPHA:3202
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly OMIM:224100
Grfoma
Intestinal carcinoid, Palmoplantar hyperhidrosis, Gastrointestinal hemorrhage, Constipation, Intr... ORPHA:97261
Caroli Syndrome
Hepatic failure, Cholangitis, Intrahepatic cholestasis, Hematemesis, Pancreatitis, Liver abscess,... ORPHA:480520
Caspase 8 Deficiency
Decreased T cell activation, Decreased circulating total IgM, Decreased circulating IgG level, De... OMIM:607271
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Fundic gland polyposis, Abdominal pain, Gastric adenocarcinoma, Melena OMIM:619182
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Hemophagocytosis, Colitis, Splenomegaly, Decreased circulating antibody level, Hepa... OMIM:300635
Autosomal Recessive Polycystic Kidney Disease
Hepatoblastoma, Gastrointestinal hemorrhage, Cholestasis, Cholangitis, Hypertension, Protein-losi... ORPHA:731
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Hepatosplenomegaly, Anemia, Thrombocytopenia, Extramedullary hematopoiesis OMIM:259710
Reynolds Syndrome
Biliary cirrhosis, Gastrointestinal hemorrhage, Splenomegaly, Hepatomegaly, Jaundice, Lip telangi... OMIM:613471
Sandifer Syndrome
Hiatus hernia, Gastroesophageal reflux, Feeding difficulties, Anemia, Hematemesis, Episodic vomit... ORPHA:71272
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Thrombocytopenia, Thiamine-responsive megaloblastic anemia OMIM:249270
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:616452
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia OMIM:614727
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Hepatic failure, Hepatosplenomegaly, Portal hypertension, Congestive hear... ORPHA:367
Leukocyte Adhesion Deficiency
Leukocytosis, Bone marrow hypocellularity, Impaired platelet aggregation, Impaired neutrophil che... ORPHA:2968
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Tyrosinemia, Type I
Enlarged kidney, Gastrointestinal hemorrhage, Paralytic ileus, Hypertrophic cardiomyopathy, Splen... OMIM:276700
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenom... ORPHA:100026
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Specific Granule Deficiency 2
Neutropenia, Anemia, Thrombocytopenia, Absent neutrophil specific granules OMIM:617475
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Abdominal pain, Splenomegaly, Recurrent pancreatitis OMIM:118830
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Acute myeloid leukemia, Splenomegaly, Neutrop... ORPHA:158057
Telangiectasia, Hereditary Hemorrhagic, Type 1
Gastrointestinal hemorrhage, Nail bed telangiectasia, Hepatic arteriovenous malformation, Telangi... OMIM:187300
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:612783
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume OMIM:617718
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Hepatomegaly, Abdominal pain, Lymphadenop... OMIM:618852
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failure, Gastrointestinal dysmotility, ... ORPHA:363705
Stormorken Syndrome
Anemia, Thrombocytopenia, Asplenia, Howell-Jolly bodies OMIM:185070
Thrombocytopenia 1
Bruising susceptibility, Petechiae, Increased circulating IgA level, Intermittent thrombocytopeni... OMIM:313900
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of memory B cells, Hepatosplenomegaly, Reduced natural killer cell activity,... OMIM:615559
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Refractory Anemia With Excess Blasts
Leukocytosis, Bone marrow hypocellularity, Acute myeloid leukemia, Abnormal mean corpuscular volu... ORPHA:86839
Cryohydrocytosis
Reticulocytosis, Splenomegaly, Hemolytic anemia, Stomatocytosis OMIM:185020
Pachydermoperiostosis
Gastrointestinal hemorrhage, Splenomegaly, Hepatomegaly, Anemia, Malabsorption, Peptic ulcer, Hyp... ORPHA:2796
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Chronic hepatitis, Hepatitis, Thrombocytopenia, Diarrhea, Sclero... OMIM:308230
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Neutropenia, Anemia, Increased mean corpuscular volume, Persistence ... OMIM:618849
Gaucher Disease Type 2
Hepatomegaly, Cardiac arrest, Dysphagia, Splenomegaly ORPHA:77260
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Eosinophilia, Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Dec... ORPHA:331206
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Kaposiform Lymphangiomatosis
Subconjunctival hemorrhage, Bruising susceptibility, Enlarged kidney, Hepatosplenomegaly, Ecchymo... ORPHA:464329
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Anemia,... OMIM:304790
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Splenomegaly, Hepatomegaly, Cardiom... OMIM:602390
Inflammatory Bowel Disease 11
Hematochezia, Abdominal pain, Diarrhea, Inflammation of the large intestine OMIM:191390
Immunodeficiency 76
T lymphocytopenia, Colitis, Splenomegaly, Chronic diarrhea, B lymphocytopenia, Lymphadenopathy, L... OMIM:619164
Tempi Syndrome
Increased circulating IgG level, Increased hematocrit, Ascites, Polycythemia, Telangiectasia, Int... ORPHA:284227
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Recurrent aphthous stomatiti... OMIM:150550
Familial Thrombocytosis
Thrombocytosis, Acute myeloid leukemia, Splenomegaly, Pulmonary arterial hypertension, Transient ... ORPHA:71493
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Anorexia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Hyperhidrosis ORPHA:86893
Lysosomal Acid Lipase Deficiency
Hepatic failure, Anemia, Hypersplenism, Thrombocytopenia, Diarrhea, Leukopenia, Periportal fibros... OMIM:278000
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Heinz body anemia, Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis OMIM:141700
Shwachman-Diamond Syndrome 2
Exocrine pancreatic insufficiency, Normocytic anemia, Hyperechogenic pancreas, Hepatomegaly, Neut... OMIM:617941
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis OMIM:266140
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased proport... OMIM:618394
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Decreased circulating total IgM, Crohn's disease, Autoimmune thr... OMIM:616100
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Decrea... OMIM:619375
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Splenomegaly, Hepatomegaly, Anemia, Pericarditis, Abnormal hemoglobin ORPHA:163596
Letterer-Siwe Disease
Neutropenia, Anemia, Hepatosplenomegaly, Thrombocytopenia OMIM:246400
Zygomycosis
Nausea, Gastrointestinal hemorrhage, Hematemesis, Hepatitis, Pancreatitis, Diarrhea, Myocarditis,... ORPHA:73263
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Decreased circulating IgA level, Partial absence of specific ant... OMIM:240500
Pseudoxanthoma Elasticum, Forme Fruste
Cerebral hemorrhage, Angina pectoris, Gastrointestinal hemorrhage, Retinal hemorrhage OMIM:177850
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Hematochezia, Anemia, Adenomatous colonic polyposis, Small intestinal polyposis, Multiple gastric... ORPHA:329971
Vascular Hyalinosis
Hematochezia, Malabsorption, Protein-losing enteropathy, Subarachnoid hemorrhage, Diarrhea OMIM:277175
Spherocytosis, Type 5
Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612690
Noonan Syndrome 12
Lymphopenia, Thrombocytopenia OMIM:618624
Senior-Loken Syndrome 1
Anemia OMIM:266900
Aregenerative Anemia
Pancytopenia, Bone marrow hypocellularity, Decreased proportion of CD4-positive helper T cells, A... ORPHA:101096
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocy... ORPHA:90045
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia ORPHA:228312
Cap Polyposis
Colorectal polyposis, Hematochezia, Constipation, Abdominal pain, Abdominal distention, Diarrhea,... ORPHA:160148
Marburg Hemorrhagic Fever
Subconjunctival hemorrhage, Nausea, Pancreatitis, Prolonged prothrombin time, Thrombocytopenia, L... ORPHA:99826
Gaucher Disease Type 1
Pancytopenia, Bruising susceptibility, Leukopenia, Biliary tract obstruction, Gingival bleeding, ... ORPHA:77259
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Anisocytosis, Splenomegaly, Anemia, Erythroid hyperplasia, Decreased mean cor... OMIM:616860
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Constipation, Neoplasm of the rectum, Stomach cancer, Neoplasm of th... ORPHA:440437
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Crohn's disease, Colitis, Enterocolitis, Perianal abscess OMIM:613148
Congenital Bile Acid Synthesis Defect Type 2
Fat malabsorption, Hepatic failure, Hepatic steatosis, Cholestasis, Extramedullary hematopoiesis,... ORPHA:79303
Congenital Rubella Syndrome
Anemia, Thrombocytopenia, Splenomegaly ORPHA:290
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Leukopenia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocyto... OMIM:603553
Juvenile Polyposis Syndrome
Neoplasm of the gastrointestinal tract, Gastrointestinal hemorrhage, Colon cancer, Abnormal onset... ORPHA:2929
Stt3B-Cdg
Thrombocytopenia ORPHA:370924
Lynch Syndrome
Gastrointestinal hemorrhage, Colon cancer, Constipation, Neoplasm of the rectum, Abdominal pain, ... ORPHA:144
Preeclampsia
Thrombocytopenia ORPHA:275555
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Bone marrow hypocellularity, Neutropenia, Anemia, Umbilical hernia, Thrombocytopenia OMIM:614520
Hemophagocytic Lymphohistiocytosis, Familial, 1
Leukopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Lymphadenopathy, Prol... OMIM:267700
Dohle Bodies And Leukemia
Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies OMIM:223350
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Neutropenia, Anemia, Thrombocytopenia OMIM:614857
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Adenosine deaminase, elevated, hemolytic anemia due to
Stomatocytosis, Hemolytic anemia, Anisopoikilocytosis, Elevated red cell adenosine deaminase level OMIM:102730
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Arrhythmia, Mucosal telangiectasiae, Constipation, Bundle branch blo... ORPHA:93672
Focal Segmental Glomerulosclerosis 1
Anemia OMIM:603278
Bartter Syndrome, Type 2, Antenatal
Impaired platelet aggregation, Constipation, Low-to-normal blood pressure, Diarrhea, Vomiting OMIM:241200
Wolfram Syndrome
Feeding difficulties in infancy, Gastrointestinal hemorrhage, Gastric ulcer, Constipation, Anemia... ORPHA:3463
Pelger-Huet Anomaly
Giant platelets, Abnormality of neutrophils, Neutropenia, Hyposegmentation of neutrophil nuclei, ... OMIM:169400
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:66661
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia OMIM:615597
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice, Feeding difficulties, Nausea and vomiting ORPHA:79238
Fish-Eye Disease
Angina pectoris, Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:79292
Enterocolitis
Hematochezia, Abdominal distention, Enterocolitis, Ulcerative colitis OMIM:226150
Congenital Disorder Of Glycosylation, Type Ih
Anemia, Thrombocytopenia OMIM:608104
Systemic Mastocytosis With Associated Hematologic Neoplasm
Nausea, Peptic ulcer, Thrombocytopenia, Diarrhea, Normocytic anemia, Myeloproliferative disorder,... ORPHA:98849
Autoimmune Hemolytic Anemia
Arrhythmia, Congestive heart failure, Splenomegaly, Abnormal leukocyte morphology, Abdominal pain... ORPHA:98375
Portal Hypertension, Noncirrhotic, 1
Esophageal varix, Portal hypertension, Hepatomegaly, Splenomegaly OMIM:617068
Spherocytosis, Type 3
Spherocytosis, Hemolytic anemia OMIM:270970
Familial Hemophagocytic Lymphohistiocytosis
Bruising susceptibility, Petechiae, Ecchymosis, Reduced natural killer cell activity, Hemophagocy... ORPHA:540
Nk-Cell Enteropathy
Hematochezia, Gastric ulcer, Intestinal polyp, Increased T cell count, Constipation, Gastroesopha... ORPHA:263665
Hodgkin Lymphoma
Anorexia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Hyperhidrosis ORPHA:98293
Tularemia
Increased circulating antibody level, Anemia, Thrombocytopenia, Leukocytosis ORPHA:3392
Spherocytosis, Type 2
Splenomegaly, Acanthocytosis, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:616649
Congenital Pulmonary Lymphangiectasia