Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
myeloproliferative leukemia virus oncogene
Synonyms:
c-mpl,  c-mpl-II,  hlb219,  thrombopoietin receptor,  CD110,  c-mpl-I,  TPO-R

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 Mpl 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 predicted to be associated to Mpl by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia OMIM:613112
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:615193
Thrombocythemia 2
Thrombocytosis OMIM:601977
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Thrombocythemia 3
Thrombocytosis OMIM:614521
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Platelet anisocytosis, Giant platelets, Ane... OMIM:187800
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Splenomegaly, Anemia, Abnormal bleeding, Abnormal hemoglobin, Thrombo... ORPHA:231393
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Diamond-Blackfan Anemia 19
Anemia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618312
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Bleeding Disorder, Platelet-Type, 24
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Imp... OMIM:619271
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Sebastian syndrome
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies OMIM:605249
Macrothrombocytopenia and progressive sensorineural deafness
Giant platelets, Thrombocytopenia, Macrothrombocytopenia OMIM:600208
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Thrombocytopenia, Cyclic
Neutropenia, Cyclic neutropenia, Thrombocytopenia OMIM:188020
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... OMIM:187950
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia, Prolonged bleeding time OMIM:177820
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Increased circulating antibody level... OMIM:615285
Bernard-Soulier Syndrome
Epistaxis, Gastrointestinal hemorrhage, Macrothrombocytopenia, Purpura, Menorrhagia, Giant platel... OMIM:231200
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Acute... OMIM:202700
Thrombocytopenia With Beta-Thalassemia, X-Linked
Bruising susceptibility, Petechiae, Splenomegaly, Hemolytic anemia, Prolonged bleeding time, Reti... OMIM:314050
Amegakaryocytic Thrombocytopenia, Congenital
Pancytopenia, Amegakaryocytic thrombocytopenia, Thrombocytopenia OMIM:604498
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Bruising susceptibility, Leukocyte inclusion bodies, Menorrhagia, Giant platelets, Abnormal bleed... OMIM:155100
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia, HbH hemoglobin OMIM:613978
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Thrombocytopenia 7
Impaired ADP-induced platelet aggregation, Impaired arachidonic acid-induced platelet aggregation... OMIM:619130
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly, Hepatomegaly ORPHA:46532
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Anemia, Increased circulating ferritin concentration, Hypochromia OMIM:205950
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Immunodeficiency 69
Pancytopenia, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Splenomegaly, Anemia OMIM:618963
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Hepatomegaly, Anemia, Erythroid hyperplasia, Thro... OMIM:133180
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Anemia, Leukopenia, Thrombocytopenia OMIM:167850
Hyperlysinemia, Type I
Anemia, Hyperlysinemia OMIM:238700
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Bruising susceptibility, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leuk... ORPHA:231401
Slc35A1-Cdg
Giant platelets, Pulmonary hemorrhage, Thrombocytopenia, Abnormal platelet granules, Neutropenia,... ORPHA:238459
Eosinophilia, Familial
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia OMIM:131400
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia ORPHA:3319
Gray Platelet Syndrome
Bruising susceptibility, Splenomegaly, Abnormality of thrombocytes, Abnormal bleeding, Thrombocyt... ORPHA:721
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Gray Platelet Syndrome
Bruising susceptibility, Abnormal number of alpha granules, Menorrhagia, Impaired collagen-induce... OMIM:139090
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia ORPHA:2802
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:619398
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Sideroblastic anemia, Hepatosplenomegaly, Pyridoxine-responsive sideroblastic anemia, Decreased m... OMIM:206000
Diamond-Blackfan Anemia 18
Neutropenia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618310
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Anemia, Abnormality of the liver, Hypochromia OMIM:206100
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Thrombocytosis, Acute myeloid leukemia, Anisocytosis, Abnormality of neutrophil morph... ORPHA:86841
Fechtner syndrome
Bruising susceptibility, Leukocyte inclusion bodies, Menorrhagia, Giant platelets, Abnormal bleed... OMIM:153640
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia, Abnormal bleeding ORPHA:517
Von Willebrand Disease, Type 3
Persistent bleeding after trauma, Bruising susceptibility, Epistaxis, Impaired platelet aggregati... OMIM:277480
Platelet Disorder, Undefined
Abnormal bleeding, Thrombocytopenia, Impaired platelet aggregation, Prolonged bleeding time OMIM:173420
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Menorrhagia, Anemia, Abnormal bleeding, Spontaneous hematomas, Epistaxis OMIM:616176
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Neutropenia, Abnormal bleeding, Macrocytic anemia... ORPHA:98826
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia, Abnormal bleeding, Prolonged bleeding time OMIM:188025
Bone Marrow Failure Syndrome 2
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia OMIM:615715
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Thrombocytos... ORPHA:75564
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia OMIM:269600
Diamond-Blackfan Anemia 13
Normocytic anemia, Elevated red cell adenosine deaminase level OMIM:615909
Platelet Signal Processing Defect
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... OMIM:173590
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaund... OMIM:603552
Cernunnos-Xlf Deficiency
T lymphocytopenia, Thrombocytopenia, Decreased circulating antibody level, Anemia, B lymphocytope... ORPHA:169079
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis,... OMIM:237800
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Bruising susceptibility, Impaired platelet aggregation, Acute myeloid leukemia, Abnormal dense gr... OMIM:601399
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Cyanosis, Transient Neonatal
Reticulocytosis, Anemia, Methemoglobinemia OMIM:613977
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Spastic Paraplegia And Evans Syndrome
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia OMIM:601608
Niemann-Pick Disease, Type B
Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Hypertriglyceridemia, Increased LDL c... OMIM:607616
Glanzmann Thrombasthenia 2
Epistaxis, Impaired ADP-induced platelet aggregation, Bruising susceptibility, Impaired epinephri... OMIM:619267
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Thrombocytosis, Iron defici... ORPHA:232
Anemia, Sideroblastic, 5
Neutropenia, Anemia, Thrombocytopenia, Reduced hematocrit, Hypochromic microcytic anemia OMIM:619523
Bilateral Striopallidodentate Calcinosis
Subcutaneous hemorrhage, Abnormality of the liver, Thrombocytopenia, Hepatomegaly ORPHA:1980
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Pancytopenia, Thrombocytosis, Megaloblastic anemia, Macrocytic anemia, Anemia of inadequate produ... OMIM:617780
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Malaria
Anemia, Thrombocytopenia, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration ORPHA:673
Alpha-Thalassemia
Microcytic anemia, Cholelithiasis, Splenomegaly, Jaundice, Anemia, Hemolytic anemia, Abnormal hem... ORPHA:846
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Poikilocytosis, Splenomegaly, Hepatomegaly, Anemia,... OMIM:615234
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Splenomegaly, Jaundice OMIM:206400
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Anisocytosis, Reduced red cell pyruva... ORPHA:766
Myh9-Related Disease
Giant platelets, Congenital thrombocytopenia, Increased mean platelet volume, Neutrophil inclusio... ORPHA:182050
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly,... OMIM:613101
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hemolytic anemia, Lymphad... ORPHA:444463
Thrombocytopenia 5
Bruising susceptibility, Petechiae, Neutropenia, Anemia, Thrombocytopenia, Epistaxis OMIM:616216
Bleeding Disorder, Platelet-Type, 17
Bruising susceptibility, Petechiae, Gastrointestinal hemorrhage, Ecchymosis, Absence of alpha gra... OMIM:187900
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Blue Rubber Bleb Nevus
Microcytic anemia, Intestinal bleeding, Prolonged bleeding time ORPHA:1059
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Deafness-Lymphedema-Leukemia Syndrome
Bruising susceptibility, Leukocytosis, Bone marrow hypocellularity, Abnormal neutrophil count, My... ORPHA:3226
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis, Anemia, Hypertriglyceridemia OMIM:608898
Fanconi Anemia, Complementation Group G
Neutropenia, Anemia, Thrombocytopenia, Leukemia OMIM:614082
Heinz Body Anemias
Heinz bodies, Heinz body anemia, Nonspherocytic hemolytic anemia OMIM:140700
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Impaired platelet aggr... OMIM:300835
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia, Decreased plasma carnitine OMIM:611283
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Neutropenia, Anemia, Increased... OMIM:619041
Fanconi Anemia, Complementation Group T
Pancytopenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity OMIM:616435
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Bleeding Disorder, Platelet-Type, 20
Menorrhagia, Bruising susceptibility, Thrombocytopenia, Epistaxis OMIM:616913
Von Willebrand Disease, Type 2
Menorrhagia, Bruising susceptibility, Thrombocytopenia, Epistaxis OMIM:613554
Essential Thrombocythemia
Splenomegaly, Abnormality of thrombocytes, Acute leukemia, Abnormal platelet morphology, Prolonge... ORPHA:3318
+173470 integrin, beta-3
Bruising susceptibility, Gastrointestinal hemorrhage, Impaired platelet aggregation, Purpura, Men... OMIM:173470
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia, Ascites ORPHA:295
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Splenomegaly, Hepatomegaly, Anemia, Hypocholesterolemia, Hypersplenism, Thrombocytopenia OMIM:610539
Storage Pool Platelet Disease
Abnormal bleeding, Prolonged bleeding time, Decreased mean platelet volume, Acute leukemia OMIM:185050
Chromosome 5Q Deletion Syndrome
Anemia of inadequate production, Erythroid hypoplasia, Refractory macrocytic anemia OMIM:153550
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Microcytic anemia, Hepatosplenomegaly, Thrombocytosis OMIM:604416
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Hermansky-Pudlak Syndrome 5
Bruising susceptibility, Menorrhagia, Abnormal bleeding, Prolonged bleeding time, Thrombocytopeni... OMIM:614074
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Congenital Atransferrinemia
Anemia, Abnormality of the pancreas ORPHA:1195
Acute Erythroid Leukemia
Pancytopenia, Leukopenia, Bone marrow hypocellularity, Anemia, Erythroid hypoplasia ORPHA:318
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Fanconi Anemia, Complementation Group V
Elevated alpha-fetoprotein, Bone marrow hypocellularity, Neutropenia, Anemia, Thrombocytopenia OMIM:617243
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased circulatin... OMIM:617514
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Hepatomegaly, Increased c... ORPHA:507
Lymphoproliferative Syndrome 1
Pancytopenia, Decreased circulating IgG level, Increased circulating ferritin concentration, Leuk... OMIM:613011
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia, Abnormal bleeding OMIM:314000
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Immunodeficiency 14B, Autosomal Recessive
Leukocytosis, Monocytosis, Thrombocytosis, Neutrophilia, B lymphocytopenia OMIM:619281
Erythrocytosis, Familial, 5
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617907
Erythrocytosis, Familial, 6
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617980
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Persistent bleeding after trauma, Bruising susceptibility, Petechiae, Acanthocytosis, Anemia of i... OMIM:300367
Nephronophthisis
Anemia ORPHA:655
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia ORPHA:228312
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Neu... OMIM:614470
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia, Heinz bodies, Compensated hemolytic anemia OMIM:614164
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Osteopetrosis, Autosomal Recessive 4
Petechiae, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia OMIM:611490
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly, Hyperbilirubinemia OMIM:179700
Erythrocytosis, Familial, 1
Increased hemoglobin, Increased hematocrit, Splenomegaly, Cerebral hemorrhage, Increased red bloo... OMIM:133100
Anemia, Congenital Dyserythropoietic, Type Ib
Splenomegaly, Anisocytosis, Jaundice, Hepatomegaly, Anemia, Erythroid hyperplasia, Reticulocytosi... OMIM:615631
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia, Hyperkalemia OMIM:141000
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Increased circulating antibody level, Ly... OMIM:618495
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Splenomegaly, Hepatomegaly, Abnormality of iron homeostasis, A... ORPHA:848
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormal platelet function, Hypoplastic anemia, Spl... ORPHA:2585
Transcobalamin Deficiency
Pancytopenia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased circula... ORPHA:859
Congenital Factor Ii Deficiency
Abnormal umbilical stump bleeding, Epistaxis, Oral cavity bleeding, Prolonged bleeding following ... ORPHA:325
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Primary Myelofibrosis
Pancytopenia, Petechiae, Hepatosplenomegaly, Leukocytosis, Ecchymosis, Portal hypertension, Throm... ORPHA:824
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Cirrhosis, Anisocytosis, Spleno... OMIM:616860
Ataxia-Pancytopenia Syndrome
Pancytopenia, Hypoplastic anemia, Neutropenia, Anemia, Thrombocytopenia, Acute myelomonocytic leu... OMIM:159550
Immunodeficiency 62
Autoimmune thrombocytopenia OMIM:618459
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly OMIM:273680
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Bone Marrow Failure Syndrome 4
Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level, Anemia, Thrombocyt... OMIM:618116
Immunodeficiency 46
Neutropenia, Anemia, Intermittent thrombocytopenia, Decreased circulating antibody level OMIM:616740
Glanzmann Thrombasthenia
Bruising susceptibility, Spontaneous hematomas, Ecchymosis, Gastrointestinal hemorrhage, Purpura,... ORPHA:849
Leukocyte Adhesion Deficiency, Type Iii
Petechiae, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Abnormality of t... OMIM:612840
Idiopathic Aplastic Anemia
Pancytopenia, Ecchymosis, Retinal hemorrhage, Bone marrow hypocellularity, Gingival bleeding, Neu... ORPHA:88
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Thrombocytosis, Splenomegaly, Anemia OMIM:209950
Glanzmann Thrombasthenia 1
Bruising susceptibility, Gastrointestinal hemorrhage, Impaired platelet aggregation, Purpura, Men... OMIM:273800
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Leukopenia, Gastrointestinal hemorrhage, Periportal fibrosis,... ORPHA:64743
Nephrotic Syndrome, Type 7
Hemolytic anemia, Thrombocytopenia OMIM:615008
Anemia, Congenital Dyserythropoietic, Type Ia
Poikilocytosis, Splenomegaly, Anisocytosis, Prolonged neonatal jaundice, Erythroid hyperplasia, R... OMIM:224120
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Increased circulating ferritin concentration, Diffuse alveolar hemorrhage, Splenome... OMIM:616050
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Increased circulating ferritin concentration, ... ORPHA:158061
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hepatomegaly, ... OMIM:616689
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume OMIM:617718
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Abnormal B cell count, Anemia, Increased circulating antibody level, ... ORPHA:100024
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Thrombocytopenia OMIM:610329
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Splenomegaly, Increased mean platelet volume, Stomatocytosis OMIM:153670
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequate production OMIM:224100
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Hepatomegaly, Lymphadenopathy OMIM:618852
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Omenn Syndrome
Eosinophilia, Hypoproteinemia, Splenomegaly, Hepatomegaly, Severe B lymphocytopenia, Anemia, B ly... OMIM:603554
Transaldolase Deficiency
Hepatosplenomegaly, Increased serum bile acid concentration, Abnormal circulating glutamine conce... ORPHA:101028
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Elevated transferrin sa... OMIM:613313
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Increased circulating ferritin concentration, Abnormal circulating interleukin conc... ORPHA:158057
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Diffuse Neonatal Hemangiomatosis
Hypercalcemia, Hepatomegaly, Anemia, Ascites, Thrombocytopenia ORPHA:2123
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgG level, Increased circulating IgM level, Autoimmune thrombocytopenia, Au... OMIM:619220
Alpha-Heavy Chain Disease
Dysgammaglobulinemia, Hypocalcemia, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, Ascites ORPHA:100025
Primary Familial Polycythemia
Abnormal hemoglobin, Abnormal bleeding, Epistaxis, Polycythemia ORPHA:90042
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
Sea-Blue Histiocytosis
Petechiae, Splenomegaly, Hepatomegaly, Abnormal bleeding, Mediastinal lymphadenopathy, Thrombocyt... ORPHA:158029
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Hermansky-Pudlak Syndrome 6
Impaired ADP-induced platelet aggregation, Bruising susceptibility, Ecchymosis, Abnormal platelet... OMIM:614075
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Petechiae, Increased circulating IgG level, Gastrointestinal hemorrhage, Increased ... OMIM:603909
Stormorken Syndrome
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Anemia, Asplenia, Abnorm... OMIM:185070
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Athrombia, Essential
Abnormal bleeding, Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggrega... OMIM:209050
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Decreased circulating IgG level, Hemophagocytosis, Increased circulating IgM level,... OMIM:308240
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Immune Thrombocytopenia
Bruising susceptibility, Petechiae, Gastrointestinal hemorrhage, Purpura, Gingival bleeding, Cere... ORPHA:3002
Sitosterolemia 1
Impaired platelet aggregation, Giant platelets, Splenomegaly, Chronic hemolytic anemia, Stomatocy... OMIM:210250
Quebec Platelet Disorder
Bruising susceptibility, Impaired epinephrine-induced platelet aggregation, Menorrhagia, Joint he... OMIM:601709
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Leukocytosis, Bone marrow hypocellularity, Retinal he... ORPHA:86839
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased circulating ferritin concentration, Schistocytosis, Reticulocytosis, Ma... ORPHA:3202
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Atransferrinemia
Hypochromic anemia, Abnormality of the liver, Atransferrinemia OMIM:209300
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly, Abnormality of iron homeostasis ORPHA:75563
Klippel-Trénaunay Syndrome
Microcytic anemia, Gastrointestinal hemorrhage, Hepatomegaly, Ascites, Prolonged bleeding time, I... ORPHA:90308
Wolfram Syndrome, Mitochondrial Form
Neutropenia, Megaloblastic anemia, Sideroblastic anemia, Thrombocytopenia OMIM:598500
Immunodeficiency 104
Lymphadenopathy, T lymphocytopenia, Splenomegaly, Hepatomegaly OMIM:608971
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Hemolytic anemia OMIM:231900
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Purpura, Asplenia, Abnormality of thrombocytes ORPHA:3204
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Leukopenia, Hyponatremia, Hemophag... OMIM:267700
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Increased circulating IgM level, Decreased specific pneumococcal antibody leve... OMIM:615513
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Neutropenia, Anemia, Congenital thrombocytopenia, Thrombocytopenia OMIM:616738
Spherocytosis, Type 4
Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis OMIM:612653
Pelger-Huet Anomaly
Giant platelets, Abnormality of neutrophils, Neutropenia, Hyposegmentation of neutrophil nuclei, ... OMIM:169400
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased circulating total IgM, Increased circulating IgA level, Absent microvilli on the surfac... OMIM:600903
Relapsing Fever
Leukopenia, Leukocytosis, Elevated circulating creatinine concentration, Neutrophilia, Elevated c... ORPHA:91547
Portal Hypertension, Noncirrhotic, 2
Petechiae, Portal hypertension, Ecchymosis, Splenomegaly, Hepatomegaly, Nodular regenerative hype... OMIM:619463
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... ORPHA:3203
Ghosal Hematodiaphyseal Dysplasia
Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Refractory anemia OMIM:231095
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:235700
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Thrombocytopenia, Hyperammonemia ORPHA:79312
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Leukopenia, Hepatomegaly, Anemia, Pancreatitis, Thrombocytopenia, Hyperammonemia ORPHA:27
Rhabdoid Tumor
Hypercalcemia, Neoplasm of the liver, Anemia, Lymphadenopathy, Thrombocytopenia, Internal hemorrhage ORPHA:69077
Immunodeficiency 48
Panhypogammaglobulinemia, Splenomegaly, Hepatomegaly OMIM:269840
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Splenomegaly, Recurrent pancreatitis OMIM:118830
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Spherocytosis, Type 2
Splenomegaly, Acanthocytosis, Jaundice, Spherocytosis, Hemolytic anemia, Hyperbilirubinemia, Reti... OMIM:616649
Aregenerative Anemia
Pancytopenia, Bruising susceptibility, Bone marrow hypocellularity, Abnormality of interleukin se... ORPHA:101096
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Increased circulating IgG level, Increased circulating IgM level, Coombs-positive h... OMIM:601859
Amed Syndrome, Digenic
Leukopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Anemia, Thrombocytopenia OMIM:619151
Immunodeficiency 64
Decreased circulating IgG level, Hepatosplenomegaly, Increased circulating IgG level, Abnormal CD... OMIM:618534
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Megaloblastic anemia, Hepatomegaly, Jaundice, Thrombocytopenia OMIM:613839
Congenital Toxoplasmosis
Hepatomegaly, Jaundice, Anemia, Lymphadenopathy, Ascites, Cardiomegaly, Thrombocytopenia ORPHA:858
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly, Hepatomegaly ORPHA:163596
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating antibody level, Thrombocytopenia, Lymphadenopathy OMIM:618048
Erythrocytosis, Familial, 8
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:222800
Babesiosis
Leukopenia, Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia, Thrombocytopenia ORPHA:108
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia, Hyperbilirubinemia, Stomatocytosis, Retic... OMIM:185000
Wt Limb-Blood Syndrome
Pancytopenia, Thrombocytopenia, Leukemia, Hypoplastic anemia OMIM:194350
Bone Marrow Failure Syndrome 5
Anemia, Decreased circulating antibody level, Pure red cell aplasia OMIM:618165
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Oval macrocytosis, Anisocytosis, Poikilocytosis OMIM:603529
Aicardi-Goutieres Syndrome 7
Increased circulating antibody level, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:615846
Bleeding Disorder, Platelet-Type, 14
Bruising susceptibility, Ecchymosis, Decreased serum thromboxane B2, Prolonged bleeding time, Epi... OMIM:614158
Tufted Angioma
Purpura, Anemia, Petechiae, Thrombocytopenia ORPHA:1063
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Decreased glucose-6-phosphate dehydrogenase lev... OMIM:300908
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Thrombocytopenia OMIM:616744
Glutathione Synthetase Deficiency
Hemolytic anemia ORPHA:32
Gaucher Disease, Type Ii
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:230900
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Thrombocytopenia, Hyperammonemia ORPHA:289916
Harderoporphyria
Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Prolonged neonatal jaun... OMIM:618892
Spherocytosis, Type 5
Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:612690
Heme Oxygenase 1 Deficiency
Thrombocytosis, Coombs-positive hemolytic anemia, Hemolytic anemia, Asplenia OMIM:614034
Non-Involuting Congenital Hemangioma
Hepatic hemangioma, Thrombocytopenia ORPHA:141179
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:616452
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of tumor necrosis factor secretion, Anemia, Increased serum interferon-gamma level, T... ORPHA:540
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Hypertriglyceridemia OMIM:619175
Adenosine Triphosphatase Deficiency, Anemia Due To
Nonspherocytic hemolytic anemia OMIM:102800
Hemolytic Anemia With Thermal Sensitivity Of Red Cells
Congenital hemolytic anemia OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain
Compensated hemolytic anemia OMIM:142309
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane
Nonspherocytic hemolytic anemia OMIM:206300
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... OMIM:604250
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Thrombocytopenia OMIM:617021
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Hyperbilirubinemia, Reti... OMIM:182900
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Hydrops Fetalis, Nonimmune
Anemia OMIM:236750
Aicardi-Goutieres Syndrome 4
Pancytopenia, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Thrombocytopenia OMIM:610333
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Neutropenia, B lymphocytopen... OMIM:150550
Cryohydrocytosis
Reticulocytosis, Splenomegaly, Hemolytic anemia, Stomatocytosis OMIM:185020
Hermansky-Pudlak Syndrome 9
Leukopenia, Thrombocytopenia OMIM:614171
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Leukocytosis, Lymphadenitis, Anemia, Cerebral hemor... OMIM:618886
Bleeding Disorder, Platelet-Type, 21
Menorrhagia, Thrombocytopenia, Impaired platelet aggregation OMIM:617443
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenom... ORPHA:100026
Formiminoglutamic Aciduria
Abnormal circulating histidine concentration, Megaloblastic anemia, Anemia ORPHA:51208
Bile Acid Synthesis Defect, Congenital, 5
Portal hypertension, Increased serum bile acid concentration, Splenomegaly, Hepatomegaly, Jaundic... OMIM:616278
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia, Decreased serum creatinine ORPHA:54057
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:230450
Immunodeficiency 76
T lymphocytopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Lymphopenia OMIM:619164
Hermansky-Pudlak Syndrome 2
Impaired ADP-induced platelet aggregation, Hepatosplenomegaly, Decreased CD4:CD8 ratio, Absent pl... OMIM:608233
Dengue Fever
Bruising susceptibility, Petechiae, Leukopenia, Gastrointestinal hemorrhage, Hypoproteinemia, Gin... ORPHA:99828
Diamond-Blackfan Anemia 12
Reticulocytopenia, Normochromic anemia, Macrocytic anemia, Elevated red cell adenosine deaminase ... OMIM:615550
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Neutropenia, Anemia, Increased mean corpuscular volume, Persistence ... OMIM:618849
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Increased circulating ferritin concentration, Portal hypertension, Hepatosplenomegaly, Bone marro... ORPHA:210136
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Decreased proportion of CD4-positive helper T cells, Iron deficiency... OMIM:301000
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:231000
Congenital Dyserythropoietic Anemia Type Iii
Oral cavity bleeding, Gingival bleeding, Anisocytosis, Anemia, Post-partum hemorrhage, Increased ... ORPHA:98870
Folate Malabsorption, Hereditary
Neutropenia, Leukopenia, Thrombocytopenia, Folate-responsive megaloblastic anemia OMIM:229050
Solute carrier family 4 (anion exchanger), member 1
Splenomegaly, Acanthocytosis, Jaundice, Spherocytosis, Hemolytic anemia, Hyperbilirubinemia, Elli... OMIM:109270
Isolated Agammaglobulinemia
Abnormal lymphocyte morphology, Recurrent cutaneous abscess formation, Abnormality of neutrophils... ORPHA:229717
Acute Promyelocytic Leukemia
Pancytopenia, Bruising susceptibility, Petechiae, Leukopenia, Leukocytosis, Ecchymosis, Oral cavi... ORPHA:520
Schnitzler Syndrome
Leukocytosis, Increased circulating IgM level, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy ORPHA:37748
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Anemi... OMIM:618398
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Isovaleric Acidemia
Pancytopenia, Leukopenia, Bone marrow hypocellularity, Cerebellar hemorrhage, Thrombocytopenia OMIM:243500
Bleeding Disorder, Platelet-Type, 11
Bruising susceptibility, Ecchymosis, Menorrhagia, Prolonged bleeding time, Epistaxis OMIM:614201
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Hyperbilirubinemia OMIM:618660
Combined Oxidative Phosphorylation Deficiency 14
Anemia, Thrombocytopenia OMIM:614946
Rapidly Involuting Congenital Hemangioma
Hepatic hemangioma, Thrombocytopenia ORPHA:141184
Congenital Disorder Of Glycosylation, Type Iik
Elevated circulating creatine kinase concentration, Thrombocytopenia, Hepatomegaly OMIM:614727
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Increased circulating ferritin concentration, Hypoproteinemia, Leukopenia, Hepatosp... OMIM:603553
Thrombocytopenia 1
Intermittent thrombocytopenia, Congenital thrombocytopenia, Decreased mean platelet volume OMIM:313900
Mixed Connective Tissue Disease
Leukopenia, Gastrointestinal hemorrhage, Purpura, Splenomegaly, Hepatomegaly, Hemolytic anemia, L... ORPHA:809
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Bone marrow hypocellularity, Monocytosis, Acute myeloid leukemia, Refractory anemia OMIM:616871
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Cirrhosis, Thrombocytopenia, Bone marrow hypocellularity OMIM:613987
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Decrea... OMIM:619375
Glutamate Formiminotransferase Deficiency
Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, Positive ferric chloride test OMIM:229100
Immunodeficiency 92
Leukocytosis, Thrombocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B ... OMIM:619652
Drug-Induced Lupus Erythematosus
Petechiae, Increased blood urea nitrogen, Elevated circulating C-reactive protein concentration, ... ORPHA:231111
Wiskott-Aldrich Syndrome
Microcytic anemia, Anemia, Hematemesis, Abnormal platelet morphology, Hypoplasia of the thymus, I... ORPHA:906
Tempi Syndrome
Polycythemia, Increased circulating IgG level, Increased hematocrit, Ascites, Intracranial hemorr... ORPHA:284227
Diamond-Blackfan Anemia 20
Anemia, Erythroid hypoplasia OMIM:618313
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Eosinophilia, Decreased circulating IgG level, Decreased circulating total IgM, Decreased proport... ORPHA:331206
Glutamate-Cysteine Ligase Deficiency
Reticulocytosis, Jaundice, Hepatosplenomegaly, Hemolytic anemia ORPHA:33574
Reticular Dysgenesis
Hypoplasia of the thymus, Congenital agranulocytosis, Leukopenia, Lymphopenia OMIM:267500
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Autoimmune thrombocytopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper... OMIM:300853
Tularemia
Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Cutaneous abscess, Cervical lymphadenop... ORPHA:3392
Systemic Lupus Erythematosus
Leukopenia, Thrombocytopenia, Hemolytic anemia OMIM:152700
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly, Hepatomegaly OMIM:607685
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... OMIM:612926
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Anemia OMIM:610090
Lysosomal Acid Lipase Deficiency
Hepatic steatosis, Leukopenia, Hepatosplenomegaly, Periportal fibrosis, Portal hypertension, Hepa... OMIM:278000
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased circulating ferritin concentration, Exercise-induced hemolysis, Increas... OMIM:194380
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Aggressive Systemic Mastocytosis
Pancytopenia, Abnormal mast cell morphology, Hepatosplenomegaly, Leukemia, Leukocytosis, Gastroin... ORPHA:98850
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Sclerosing cholangitis, Decreased circulating IgE, Increased cir... OMIM:308230
Imerslund-Gräsbeck Syndrome
Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Bleeding Disorder, Platelet-Type, 18
Epistaxis, Prolonged bleeding time, Impaired platelet aggregation OMIM:615888
Neonatal Lupus Erythematosus
Pancytopenia, Abnormality of the liver, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Hemolyti... ORPHA:398124
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of memory B cells, Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmu... OMIM:615559
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepat... OMIM:300635
Vitamin B12-Responsive Methylmalonic Acidemia
Anemia, Hepatomegaly, Hyperammonemia ORPHA:28
Reticular Dysgenesis
Leukopenia, Decreased circulating antibody level, Abnormality of neutrophils, Anemia, Aplasia/Hyp... ORPHA:33355
Acquired Purpura Fulminans
Macular purpura, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Prolong... ORPHA:49566
Anemia, Sideroblastic, 1
Anemia of inadequate production, Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic ... OMIM:300751
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Splenomegaly, Jaundice, Prolonged neonatal jaundice, Hemolytic an... ORPHA:288
Sengers Syndrome
Thrombocytopenia OMIM:212350
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Abnor... ORPHA:158048
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Hepatic fibrosis OMIM:614480
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Anemia, Hyperuricemia ORPHA:371
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:263400
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level OMIM:616576
Letterer-Siwe Disease
Hepatosplenomegaly, Jaundice, Neutropenia, Anemia, Thrombocytopenia OMIM:246400
Elliptocytosis 1
Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia OMIM:611804
Griscelli Syndrome
Leukopenia, Bone marrow hypocellularity, Abnormal circulating lipid concentration, Splenomegaly, ... ORPHA:381
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, T lymphocytopenia, Decreased proportion of memory B cells, Hepatosplenomegaly, Port... ORPHA:79124
Factor V Deficiency
Bruising susceptibility, Menorrhagia, Abnormal bleeding, Prolonged prothrombin time, Prolonged bl... OMIM:227400
Congenital Disorder Of Glycosylation, Type Ih
Cholestasis, Hepatomegaly, Anemia, Hypoalbuminemia, Ascites, Thrombocytopenia OMIM:608104
Lesch-Nyhan Syndrome
Anemia, Hyperuricemia ORPHA:510
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia ORPHA:67048
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Chronic hemolytic anemia, Reticulocytosis,... OMIM:266200
Gaucher Disease, Type I
Pancytopenia, Splenomegaly, Hepatomegaly, Anemia, Hypersplenism, Thrombocytopenia, Epistaxis OMIM:230800
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Subcutaneous hemorrhage, Pulmonary hemorrhage, Neutropenia, Decreased plat... OMIM:603585
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Hepatosplenomegaly, Anemia, Thrombocytopenia, Extramedullary hematopoiesis OMIM:259710
Bernard-Soulier Syndrome
Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced platelet ag... ORPHA:274
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Cerebellar hemorrhage, Methylmalonic acidemia, Hepatomegaly, Pancreatitis, Hyperglyci... OMIM:251000
Osteopetrosis, Autosomal Dominant 3
Anemia, Splenomegaly, Hepatomegaly OMIM:618107
Congenital Rubella Syndrome
Splenomegaly, Hepatomegaly, Jaundice, Anemia, Thrombocytopenia ORPHA:290
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Anemia,... OMIM:304790
Diamond-Blackfan Anemia 5
Reticulocytopenia, Leukopenia, Erythroid hypoplasia, Macrocytic anemia OMIM:612528
Diamond-Blackfan Anemia 4
Neutropenia, Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia OMIM:612527
Gaucher Disease Type 1
Pancytopenia, Bruising susceptibility, Leukopenia, Biliary tract obstruction, Gingival bleeding, ... ORPHA:77259
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Thrombocytopenia ORPHA:49827
Lecithin:Cholesterol Acyltransferase Deficiency
Normochromic anemia, Hemolytic anemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy OMIM:612783
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukopenia, Leukocytosis, Cholestasis, Neutropenia, Anemia, Hepat... ORPHA:292
Fetal Gaucher Disease
Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, Abnormality of the spleen, Intracrani... ORPHA:85212
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Absent circulating B cells, Agammaglobulinemia OMIM:619693
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Hepatic steatosis, Hepatomegaly, Elevated transferr... OMIM:606069
Iron-Refractory Iron Deficiency Anemia
Elevated hepcidin level, Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia OMIM:206200
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Beta-Thalassemia Intermedia
Cholelithiasis, Abnormality of the liver, Hepatosplenomegaly, Leukocytosis, Cirrhosis, Splenomega... ORPHA:231222
Wilson Disease
Bruising susceptibility, Hepatic steatosis, Cirrhosis, Splenomegaly, Hepatomegaly, Jaundice, Anem... ORPHA:905
Fetal And Neonatal Alloimmune Thrombocytopenia
Petechiae, Ecchymosis, Gastrointestinal hemorrhage, Purpura, Neonatal alloimmune thrombocytopenia... ORPHA:853
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neu... ORPHA:231154
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the pancreas, Neutrophilia, Elevated circulating C-reactive protein concentration,... ORPHA:54251
Cinca Syndrome
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Elevated circulating C-reactive protein concentra... OMIM:607115
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Hepatosplenomegaly, Increased serum iron, Anemia, E... ORPHA:300298
Preeclampsia
Abnormality of the hepatic vasculature, Thrombocytopenia, Elevated circulating creatinine concent... ORPHA:275555
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Leukopenia, Hyponatremia, Hyperuricemia, Anemia, Hypomagnesemia, Thrombocytopenia OMIM:613845
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Specific Granule Deficiency 2
Neutropenia, Anemia, Thrombocytopenia, Absent neutrophil specific granules OMIM:617475
Kasabach-Merritt Syndrome
Petechiae, Leukopenia, Purpura, Hepatic hemangioma, Abnormal lymphatic vessel morphology, Neutrop... ORPHA:2330
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Neutrophilia, Pulmonary hemorrhage, Hepatomega... OMIM:619644
Boutonneuse Fever
Petechiae, Leukopenia, Increased circulating IgG level, Increased circulating IgM level, Cervical... ORPHA:83313
Senior-Loken Syndrome 1
Anemia OMIM:266900
Majeed Syndrome
Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Decreased mean corpuscular volume, ... OMIM:609628
Methylmalonic Aciduria, Cblb Type
Pancytopenia, Methylmalonic acidemia, Hepatomegaly, Neutropenia, Anemia, Hyperglycinemia, Thrombo... OMIM:251110
Prolidase Deficiency
Petechiae, Splenomegaly, Hepatomegaly, Increased circulating antibody level, Anemia, Prolonged ne... OMIM:170100
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Hyperhomocystinemia, Methylmalonic acidemia, Neutropenia, Anemia, Thrombocytopenia OMIM:614857
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Decreased circulating total IgM, Splenomegaly, Hepatomegaly, Dec... OMIM:607594
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Thrombocytopenia OMIM:254900
Good Syndrome
Decreased circulating antibody level, Abnormal leukocyte morphology, Anemia, Aplasia/Hypoplasia o... ORPHA:169105
Prothrombin Deficiency, Congenital
Bruising susceptibility, Ecchymosis, Gastrointestinal hemorrhage, Menorrhagia, Gingival bleeding,... OMIM:613679
Von Willebrand Disease, Type 1
Persistent bleeding after trauma, Bruising susceptibility, Epistaxis, Gastrointestinal hemorrhage... OMIM:193400
Thrombocytopenia 6
Abnormal bleeding, Thrombocytopenia, Spontaneous, recurrent epistaxis OMIM:616937
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Hepatomegaly, Thrombocytopenia, Increased circulating antibody level, Anemia, Lymph... OMIM:617591
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Elliptocytosis 2
Reticulocytosis, Hemolytic anemia, Elliptocytosis OMIM:130600
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Lymphopenia, Hypoplasia... OMIM:612541
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Thrombocytopenia, Thiamine-responsive megaloblastic anemia OMIM:249270
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Impaired neutrophil bactericidal activity,... OMIM:613470
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:66661
Galactosemia Iii
Hypergalactosemia, Splenomegaly, Hepatomegaly, Jaundice OMIM:230350
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Schistocytosis, Hyperlipidemia, Elevated circulating creatinine concentration, Purpura, Increased... OMIM:235400
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Thrombocytosis, Iron deficiency anemia OMIM:226300
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Anemia of inadeq... OMIM:612714
Megaloblastic Anemia, Folate-Responsive
Hypersegmentation of neutrophil nuclei, Increased circulating ferritin concentration, Schistocyto... OMIM:601775
Griscelli Syndrome Type 2
Pancytopenia, Petechiae, Hyperlipidemia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, ... ORPHA:79477
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Anemia, Leukopenia, Lymphopenia OMIM:615934
Glycogen Storage Disease Xii
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:611881
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Anemia, Splenomegaly, Ascites ORPHA:1046
Chediak-Higashi Syndrome
Bruising susceptibility, Leukopenia, Giant neutrophil granules, Hemophagocytosis, Splenomegaly, S... OMIM:214500
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Hepatomegaly OMIM:618541
Kaposiform Lymphangiomatosis
Subconjunctival hemorrhage, Bruising susceptibility, Enlarged kidney, Hepatosplenomegaly, Ecchymo... ORPHA:464329
Neurofibromatosis-Noonan Syndrome
Abnormality of the lymphatic system, Prolonged bleeding time ORPHA:638
Dohle Bodies And Leukemia
Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies OMIM:223350
Methylmalonic Aciduria, Cbla Type
Pancytopenia, Methylmalonic acidemia, Hepatomegaly, Neutropenia, Anemia, Hyperglycinemia, Thrombo... OMIM:251100
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Agammaglobulinemia, Hypocalcemia, Neutropenia, Anemia, Hep... ORPHA:47
Noonan Syndrome 12
Lymphopenia, Thrombocytopenia OMIM:618624
Cold Agglutinin Disease
Lymphadenopathy, Splenomegaly, Hepatomegaly, Hemolytic anemia ORPHA:56425
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Hypocalcemia, Splenomegaly, Hepatomegaly, Jaundice, Abnormality of thrombocytes ORPHA:172
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Splenomegaly, Hepatomegaly, Jaundice, Biliary tract abnormality, Cir... ORPHA:79301
Propionic Acidemia
Pancytopenia, Cerebellar hemorrhage, Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Hyperglycin... OMIM:606054
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia OMIM:608885
Hereditary Spherocytosis
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Jaundice, Hepa... ORPHA:822
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Decreased circulating total IgM, Autoimmune thrombocytopenia, Au... OMIM:616100
Chronic Intestinal Pseudoobstruction
Abnormal platelet morphology ORPHA:2978
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocy... ORPHA:90045
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia, Hypercalcemia ORPHA:2668
Transaldolase Deficiency
Pancytopenia, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Cirrhosis, Micronodular cir... OMIM:606003
Intermediate Generalized Junctional Epidermolysis Bullosa
Anemia ORPHA:79402
Thrombotic Thrombocytopenic Purpura, Hereditary
Schistocytosis, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Jau... OMIM:274150
Congenital Disorder Of Glycosylation, Type Iio
Hepatosplenomegaly, Hypercholesterolemia, Splenomegaly, Hepatomegaly, Decreased circulating cerul... OMIM:616828
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic steatosis, Portal hypertension, Periportal fibrosis, Splenomegaly, Hepatocellular necrosi... OMIM:251880
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Heinz body anemia, Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis OMIM:141700
Felty Syndrome
Abnormal lymphocyte morphology, Bone marrow hypocellularity, Splenomegaly, Hepatomegaly, Neutrope... ORPHA:47612
Hemophilia B
Delayed onset bleeding, Prolonged bleeding after dental extraction, Spontaneous, recurrent epista... ORPHA:98879
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Leukocytosis, Thrombocytosis, Autoimmune hemolytic anemia, Impaired lymphocyte transformation wit... OMIM:243150
Familial Cold Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, Leukocytosis, Lymphadenopathy, Splenomegaly OMIM:611762
Blue Rubber Bleb Nevus
Intestinal bleeding, Iron deficiency anemia, Abnormality of the liver, Thrombocytopenia OMIM:112200
Lymphoproliferative Syndrome 2
Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Hepatomegaly, Decreased circula... OMIM:615122
Severe Hemophilia A
Persistent bleeding after trauma, Bruising susceptibility, Epistaxis, Gastrointestinal hemorrhage... ORPHA:169802
Mitochondrial Myopathy And Sideroblastic Anemia
Anemia ORPHA:2598
Pericardial Effusion, Chronic
Polycythemia OMIM:260900
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Thrombocytopenia ORPHA:169090
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic myelomonocy... ORPHA:98849
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Adenosine deaminase, elevated, hemolytic anemia due to
Hyperuricemia, Elevated red cell adenosine deaminase level, Hemolytic anemia, Anisopoikilocytosis... OMIM:102730
Tyrosinemia Type 1
Hepatocellular carcinoma, Splenomegaly, Hepatomegaly ORPHA:882
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Anemia of inadequate production, Hemolytic anemia, Elliptocytosis OMIM:166910
Senior-Loken Syndrome 4
Anemia OMIM:606996
Ebola Hemorrhagic Fever
Acute pancreatitis, Leukopenia, Gastrointestinal hemorrhage, Thrombocytopenia, Increased circulat... ORPHA:319218
Wolman Disease
Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites ORPHA:75233
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Increased mean platelet volume OMIM:616737
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia ORPHA:98375
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Anemia, Cardiomegaly OMIM:618838
Aceruloplasminemia
Decreased serum iron, Anemia, Increased circulating ferritin concentration, Aceruloplasminemia OMIM:604290
Cyclic Neutropenia
Decreased eosinophil count, Peritonitis, Recurrent tonsillitis, Thrombocytopenia, Cervical lympha... ORPHA:2686
Splenoportal Vascular Anomalies
Splenomegaly, Anomalous splenoportal venous system, Ascites, Cirrhosis, Hepatic fibrosis, Hyperam... OMIM:271500
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Anemia, Hyperuricemia OMIM:613092
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Autoerythrocyte Sensitization Syndrome
Thrombocytosis, Autoimmune thrombocytopenia, Impaired platelet adhesion, Abnormal erythrocyte mor... ORPHA:324636
Glycogen Storage Disease Vii
Cholelithiasis, Jaundice, Hyperuricemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration... OMIM:232800
Mevalonic Aciduria
Normocytic hypoplastic anemia, Hepatosplenomegaly, Leukocytosis, Fluctuating splenomegaly, Elevat... OMIM:610377
Oslam Syndrome
Anemia OMIM:165660
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Neutropenia, Anemia, Hyperuricemia OMIM:617056
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Thrombocytopenia, Hypochromic microcytic anemia ORPHA:3240
Combined Saposin Deficiency
Splenomegaly, Hepatomegaly OMIM:611721
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Congenital thrombocytopenia, Petechiae, Amegakaryocytic thrombocytopenia, Aplastic anemia, Purpura OMIM:605432