Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
Bloom syndrome, RecQ like helicase
Synonyms:
N/A

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 Blm 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 Blm by orthology or direct annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Pallor, Red... ORPHA:90039
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Polyclonal elevation of IgM, Monoclonal immunoglobulin M proteinemia, Leukemia, Lymphoma OMIM:153600
Diamond-Blackfan Anemia 19
Steroid-responsive anemia, Anemia, Erythroid hypoplasia OMIM:618312
Immunoerythromyeloid Hypoplasia
Lymphoproliferative disorder, Decreased circulating IgG level OMIM:242880
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Lymphoma, Hodgkin, Classic
Hodgkin lymphoma, Polyclonal elevation of IgM OMIM:236000
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Pallor, Poikilocytosis, Growth dela... OMIM:615234
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Splenomegaly, Pallor, Anisocytosis, Anemia, Short stature, Poiki... OMIM:615631
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Splenomegaly, Anisopoikilocytosis, Acanthocytosis, Increased m... OMIM:616689
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Decreased circulating IgG level OMIM:247630
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia, Intrauterine growth retardation ORPHA:2802
Immunodeficiency 24
Defective T cell proliferation, Decreased circulating IgG level, Lymphoproliferative disorder, De... OMIM:615897
Chromosomal Instability With Tissue-Specific Radiosensitivity
Neoplasm, Abnormality of chromosome stability OMIM:215510
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis OMIM:603529
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly OMIM:617441
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Agammaglobulinemia 10, Autosomal Dominant
Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased c... OMIM:619707
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Decreased mean corpuscular volume, Pallor, Hepatosplenomegaly, Anisopoikilocytosis, Dysplastic er... ORPHA:300298
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Decreased circulating total IgM, Reduced isohemagglutinin level,... OMIM:613493
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Neutropenia, Pallor, Anisopoikilocytosis, Macrocytic anemia, Thrombocytopen... ORPHA:35858
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly ORPHA:294
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Immunodeficiency 11
Decreased circulating antibody level OMIM:615206
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Immunodeficiency, Common Variable, 14
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:617765
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Agammaglobulinemia 4, Autosomal Recessive
Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased c... OMIM:613502
Autoimmune Hemolytic Anemia, Cold Type
Pallor, Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Breath-Holding Spells
Pallor, Iron deficiency anemia OMIM:607578
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Acute Myelomonocytic Leukemia
Leukocytosis, Pallor, Eosinophilia, Anemia, Thrombocytopenia ORPHA:517
Caspase 8 Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:607271
Anemia, Sideroblastic, 1
Anemia of inadequate production, Anemic pallor, Hypochromic microcytic anemia, Macrocytic anemia,... OMIM:300751
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... ORPHA:766
Hyperlysinemia, Type I
Anemia OMIM:238700
Immunodeficiency 70
Decreased circulating total IgA, Decreased circulating total IgM, Decreased circulating total IgG... OMIM:618969
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Immunodeficiency 44
Decreased circulating IgA level, Decreased circulating total IgM, Abnormal circulating IgG level OMIM:616636
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:206100
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, B Acute Lymphoblastic Leukemia,... OMIM:619824
N Syndrome
Neoplasm, Leukemia, Abnormality of chromosome stability OMIM:310465
Phosphoserine Phosphatase Deficiency
Postnatal growth retardation, Intrauterine growth retardation OMIM:614023
Diamond-Blackfan Anemia 13
Normocytic anemia, Elevated red cell adenosine deaminase level OMIM:615909
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level OMIM:618987
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Agammaglobulinemia 2, Autosomal Recessive
Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating total IgM OMIM:613500
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Transcobalamin Deficiency
Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG ... ORPHA:859
Retinitis Pigmentosa 42
Pallor OMIM:612943
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Agammaglobulinemia 6, Autosomal Recessive
Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased c... OMIM:612692
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... OMIM:206000
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM OMIM:606445
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Elliptocytosis 1
Pallor, Elliptocytosis, Hemolytic anemia, Splenomegaly OMIM:611804
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Anemia, Sideroblastic anemia OMIM:205950
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6 concentration, Decreased circulating total IgM, Decreased cir... OMIM:618944
Developmental And Epileptic Encephalopathy 50
Anemia, Anisopoikilocytosis, Acanthocytosis, Schistocytosis OMIM:616457
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis, Heinz body anemia OMIM:141700
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Anemia of inadequate production, Petechiae, Congenital thrombocytopenia, Acanthocytosis, Poikiloc... OMIM:300367
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Mild postnatal growth retardation, Splenomegaly, Anisocytosis, S... OMIM:224120
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:300400
Immunodeficiency 105
Decreased circulating IgA level, B-cell lymphoma, Decreased circulating IgG level, Decreased circ... OMIM:619924
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis OMIM:206200
Retinitis Pigmentosa 81
Pallor OMIM:617871
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM OMIM:610798
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Short stature, Pallor, Anisocytosis, Poikilocytosis, Anemia, A... ORPHA:98870
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Splenomegaly, Pallor, Extrame... ORPHA:231214
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia, Dilated cardiomyopathy OMIM:611283
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... OMIM:608106
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Pyropoikilocytosis, Elliptocytosis, Microspherocytosis OMIM:266140
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia, Multiple myeloma, Lymphoma ORPHA:209004
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Pallo... ORPHA:75564
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Hypochromic anemia, Pallor, Pappenheimer bodies, Microcytic anemia, Delayed puberty, Sideroblasti... OMIM:600462
Fanconi Anemia, Complementation Group D1
Chromosomal breakage induced by crosslinking agents, T-cell acute lymphoblastic leukemias, Acute ... OMIM:605724
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Lymphoproliferative disorder, H... OMIM:618261
Fetal Parvovirus Syndrome
Anemia, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Thrombocytopenia ORPHA:295
3-Methylglutaconic Aciduria, Type Viia
Anemia, Anisopoikilocytosis, Neutropenia OMIM:619835
Retinitis Pigmentosa 60
Pallor OMIM:613983
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Chromosome 5Q Deletion Syndrome
Anemia of inadequate production, Refractory macrocytic anemia, Erythroid hypoplasia OMIM:153550
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Splenomegaly, Anemia, Ani... OMIM:613673
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia OMIM:140700
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia, Short stature ORPHA:3319
Myeloma, Multiple
Multiple myeloma, Paraproteinemia OMIM:254500
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Splenomegaly, Pallor, Anisocytosis, Heinz bodies, Poikilocytosis, Fava bean-induced... OMIM:300908
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia OMIM:617948
Pyruvate Kinase Deficiency Of Red Cells
Splenomegaly, Pallor, Decreased hemoglobin concentration, Chronic hemolytic anemia, Reticulocytos... OMIM:266200
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
Spherocytosis, Type 5
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... OMIM:612690
Trimethylaminuria
Splenomegaly, Tachycardia, Neutropenia, Hypertension, Anemia OMIM:602079
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... OMIM:614699
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Solute carrier family 4 (anion exchanger), member 1
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re... OMIM:109270
Fanconi Anemia, Complementation Group G
Myelodysplasia, Leukemia, Abnormality of chromosome stability OMIM:614082
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
X-Linked Sideroblastic Anemia
Pallor, Anemia, Splenomegaly ORPHA:75563
Hereditary Elliptocytosis
Splenomegaly, Hemolytic anemia, Poikilocytosis, Congenital hemolytic anemia, Elliptocytosis, Stom... ORPHA:288
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency 15B
Agammaglobulinemia, Decreased circulating antibody level OMIM:615592
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Primary Myelofibrosis
Petechiae, Leukocytosis, Splenomegaly, Pallor, Extramedullary hematopoiesis, Hepatosplenomegaly, ... ORPHA:824
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly OMIM:312500
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased mean corpuscular volume, Pallor, Anisocytosis, Poikilocytosis, Elliptocytosis, Anemia OMIM:616959
Nephronophthisis
Anemia ORPHA:655
Diamond-Blackfan Anemia 9
Growth delay, Anemia OMIM:613308
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis OMIM:166910
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Anemia OMIM:617408
Congenital Atransferrinemia
Anemia ORPHA:1195
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia, Stomatocytosis OMIM:301083
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level OMIM:242870
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly, Neonatal death OMIM:273680
Cyanosis, Transient Neonatal
Methemoglobinemia, Reticulocytosis, Anemia OMIM:613977
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Reticulocytosis, Erythroid hyperplasia, Splenomegaly OMIM:237800
Immunodeficiency 14B, Autosomal Recessive
Reduced natural killer cell activity, Decreased circulating IgA level, Decreased circulating IgG ... OMIM:619281
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Decreased circulating antibody level OMIM:616873
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Impaired T cell function, Decreased circulating total IgM, Decre... OMIM:607594
Optic Atrophy 9
Pallor OMIM:616289
Cryohydrocytosis
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly OMIM:185020
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability OMIM:600546
Spherocytosis, Type 2
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis OMIM:616649
Hydrops Fetalis, Nonimmune
Anemia, Congestive heart failure OMIM:236750
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Partial absen... OMIM:301082
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:611926
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia OMIM:615214
Bleeding Disorder, Platelet-Type, 19
Anemia, Epistaxis, Macrothrombocytopenia OMIM:616176
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... OMIM:603902
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Diamond-Blackfan Anemia 4
Short stature, Erythroid hypoplasia, Macrocytic anemia, Neutropenia, Growth delay, Reticulocytopenia OMIM:612527
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... OMIM:605258
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Decreased mean corpuscular volume, Short stature, Pallor, Hepatosplenomegaly, Hemolytic anemia, R... OMIM:611590
Acute Peripheral Arterial Occlusion
Pallor, Leukocytosis ORPHA:90064
Beta-Thalassemia
Abnormal hemoglobin, Splenomegaly, Pallor, Microcytic anemia, Skin ulcer, Anemia, Thrombocytopenia ORPHA:848
Eosinophilia, Familial
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis OMIM:131400
Immunodeficiency 54
Lymphoproliferative disorder, Chromosome breakage OMIM:609981
Short Fifth Metacarpals-Insulin Resistance Syndrome
Short stature, Spherocytosis, Splenomegaly ORPHA:66518
Refractory Anemia
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Thro... ORPHA:98826
Erythroleukemia, Familial, Susceptibility To
Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid hyperplasia OMIM:133180
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Hereditary Spherocytosis
Spherocytosis, Splenomegaly, Pallor, Extramedullary hematopoiesis, Spontaneous hemolytic crises, ... ORPHA:822
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Peripheral Cone Dystrophy
Pallor OMIM:609021
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor, Megaloblastic anemia, Thrombocytopenia, Short stature ORPHA:49827
Short Stature With Microcephaly And Distinctive Facies
Anemia, Anisopoikilocytosis, Severe short stature OMIM:615789
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... ORPHA:3202
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Immunodeficiency 61
Agammaglobulinemia, Colon cancer OMIM:300310
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal reticulocyte morphology, Short stature ORPHA:2522
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Elliptocytosis 2
Hemolytic anemia, Reticulocytosis, Elliptocytosis OMIM:130600
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia OMIM:615285
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Arrhythmia, Thrombocytopenia, Patent ductus arteriosus, Hypertension, Sideroblastic anemia, Intra... OMIM:617021
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor, Megaloblastic anemia, Thrombocytopenia, Pancytopenia OMIM:613839
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Spherocytosis, Splenomegaly OMIM:612653
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor, Short stature ORPHA:2786
Fanconi Anemia, Complementation Group S
Ovarian neoplasm, Chromosome breakage, Breast carcinoma OMIM:617883
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Growth delay, Anemia, Thrombocytopenia ORPHA:169079
Hb Bart'S Hydrops Fetalis
Pallor, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
Whim Syndrome 1
Decreased circulating antibody level, Verrucae, Decreased circulating IgG level OMIM:193670
Acute Erythroid Leukemia
Pancytopenia, Leukopenia, Anemia, Erythroid hypoplasia ORPHA:318
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgE, Decreased circulating IgA level, Decreased circulating IgG level, Decr... OMIM:618394
Retinohepatoendocrinologic Syndrome
Pallor OMIM:268040
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Fanconi Anemia, Complementation Group N
Chromosomal breakage induced by crosslinking agents, Nephroblastoma, Medulloblastoma, Neuroblastoma OMIM:610832
Lathosterolosis
Anisopoikilocytosis, Abnormal platelet morphology, Meningocele, Thrombocytopenia, Intrauterine gr... ORPHA:46059
Fanconi Anemia, Complementation Group T
Anemia, Thrombocytopenia, Short stature, Pancytopenia OMIM:616435
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis OMIM:608898
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis ORPHA:90044
Rh Deficiency Syndrome
Hypochromia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anemia, Hemolytic anemia... ORPHA:71275
Retinitis Pigmentosa 70
Pallor OMIM:615922
Diamond-Blackfan Anemia 12
Elevated red cell adenosine deaminase level, Normochromic anemia, Reticulocytopenia, Macrocytic a... OMIM:615550
Immune Deficiency Disease
Decreased circulating total IgM OMIM:242850
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level OMIM:251190
Immunodeficiency 50
Decreased circulating antibody level OMIM:300988
Immunodeficiency 96
Defective T cell proliferation, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:619774
Lathosterolosis
Myelomeningocele, Hepatosplenomegaly, Anisopoikilocytosis, Acanthocytosis, Schistocytosis, Increa... OMIM:607330
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Petechiae, Splenomegaly, Hemolytic anemia, Increased mean platelet volume, Ecchymosis, Stomatocyt... OMIM:153670
Leishmaniasis
Splenomegaly, Pallor, Leukopenia, Abnormal macrophage morphology, Pancytopenia, Skin ulcer, Anemi... ORPHA:507
Bone Marrow Failure Syndrome 5
Anemia, Pure red cell aplasia, Short stature OMIM:618165
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Squamous cell carcinoma, Decreased circulating total IgM, Increased circulating IgE level, Increa... OMIM:243700
Glutamate-Cysteine Ligase Deficiency
Hemolytic anemia, Hepatosplenomegaly, Reticulocytosis ORPHA:33574
Evans Syndrome
Petechiae, Neutropenia in presence of anti-neutropil antibodies, Pallor, Autoimmune thrombocytope... ORPHA:1959
Megaloblastic Anemia, Folate-Responsive
Hypersegmentation of neutrophil nuclei, Folate-responsive megaloblastic anemia, Episodic hemolyti... OMIM:601775
Fanconi Anemia, Complementation Group O
Chromosome breakage OMIM:613390
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Spherocytosis, Splenomegaly OMIM:182900
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level OMIM:619705
Immunodeficiency, Common Variable, 2
Neoplasm, Decreased circulating IgA level, Decreased circulating IgG level, Partial absence of sp... OMIM:240500
Anemia, Congenital Dyserythropoietic, Type Ii
Anemia of inadequate production, Reticulocytosis, Splenomegaly OMIM:224100
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Thrombocytopenia OMIM:615715
Thrombocytopenia With Beta-Thalassemia, X-Linked
Splenomegaly, Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Epistaxis OMIM:314050
Diamond-Blackfan Anemia 5
Short stature, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia OMIM:612528
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgE, Decreased circulating IgA level, Decreased circulating IgG level, Decr... OMIM:619510
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Splenomegaly OMIM:179700
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Splenomegaly, Pallor, Increased red cell hemolysis by shear stress, Increased mean corpuscular he... OMIM:194380
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
Gaisböck Syndrome
Angina pectoris, Increased hematocrit, Hypovolemia, Elevated plasma cell count, Increased mean co... ORPHA:90041
Dyskeratosis Congenita, Digenic
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:620040
Alpha-Thalassemia
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism ORPHA:846
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly OMIM:185000
Dermatitis, Atopic
Pallor, Dry skin, Facial erythema OMIM:603165
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level OMIM:233650
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Poikilocytosis, Pyrimidine-r... OMIM:258900
Retinitis Pigmentosa 73
Pallor OMIM:616544
Thrombocytopenia 5
Anemia, Thrombocytopenia, Epistaxis, Neutropenia OMIM:616216
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Leukemia, Chromosome breakage, Abnormality of chromosome stability OMIM:208910
Optic Atrophy 1
Pallor OMIM:165500
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
Autoimmune Hemolytic Anemia
Pallor, Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:98375
Fanconi Anemia, Complementation Group V
Chromosomal breakage induced by crosslinking agents OMIM:617243
Fragile X Syndrome
Folate-dependent fragile site at Xq28 OMIM:300624
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia OMIM:616941
Rh-Null, Regulator Type
Hemolytic anemia, Stomatocytosis OMIM:268150
Myelofibrosis
Pallor, Myeloproliferative disorder, Purpura, Splenomegaly OMIM:254450
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619752
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia OMIM:200900
Retinitis Pigmentosa 27
Pallor OMIM:613750
Bleeding Disorder, Platelet-Type, 16
Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Anemia, Thrombocytopenia OMIM:187800
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific anti-polysaccharide antibody level, Decreased specific antibody response to pr... ORPHA:70593
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Immunodeficiency 69
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia OMIM:618963
Ichthyosis, Congenital, Autosomal Recessive 5
White scaling skin, Acanthocytosis OMIM:604777
Focal Segmental Glomerulosclerosis 1
Hypertension, Anemia OMIM:603278
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating antibody level, Decreased circulating IgA level, Decreased circulating IgG ... OMIM:616100
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Facial papilloma, Increased circulating IgM level, Increased circulating IgG level OMIM:619220
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:612126
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Thrombotic Thrombocytopenic Purpura
Arrhythmia, Myocardial infarction, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocyt... ORPHA:54057
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Short stature, Bone-marrow foam cells, Anemia, Thrombocytop... OMIM:607616
Immunodeficiency 14A, Autosomal Dominant
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Increased circu... OMIM:615513
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia OMIM:613501
Cold Agglutinin Disease
Pallor, Hemolytic anemia, Splenomegaly ORPHA:56425
Immunodeficiency 25
Increased circulating IgA level, Complete or near-complete absence of specific antibody response ... OMIM:610163
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Neuroblastoma, Oropharyngeal squamous cell carcinoma, Pancreatic squamou... ORPHA:443167
Diamond-Blackfan Anemia 20
Anemia, Erythroid hypoplasia OMIM:618313
Fragile X Syndrome
Folate-dependent fragile site at Xq28 ORPHA:908
Drug-Induced Autoimmune Hemolytic Anemia
Pallor, Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation OMIM:615361
Malaria
Anemia, Thrombocytopenia ORPHA:673
Fanconi Anemia, Complementation Group Q
Chromosome breakage OMIM:615272
Immunodeficiency 64
Decreased lymphocyte proliferation in response to mitogen, B-cell lymphoma, Increased circulating... OMIM:618534
Immunodeficiency 95
Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto... OMIM:159550
Idiopathic Aplastic Anemia
Retinal hemorrhage, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Epistaxis, Reticulocytop... ORPHA:88
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, B-cell lymphoma, Hodgkin lymphoma, Lymphop... OMIM:300853
Formiminoglutamic Aciduria
Megaloblastic anemia, Anemia ORPHA:51208
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Orthostatic Hypotension 2
Orthostatic hypotension, Anemia OMIM:618182
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Growth delay, Anemia, Thrombocytopenia OMIM:611490
Colchicine Poisoning
Leukocytosis, Hypovolemia, Arrhythmia, Cardiogenic shock, Hypotension, Myocarditis, Congestive he... ORPHA:31824
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia, Short stature ORPHA:3204
Immunoglobulin A Deficiency 2
Decreased circulating IgA level OMIM:609529
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Hemochromatosis, Type 2B
Anemia, Splenomegaly, Cardiomyopathy, Congestive heart failure OMIM:613313
Acute Adrenal Insufficiency
Orthostatic hypotension, Hypovolemia, Normocytic anemia, Hypotension, Myocardial infarction, Dela... ORPHA:95409
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Decreased circulating total IgM OMIM:614878
Intermediate Generalized Junctional Epidermolysis Bullosa
Growth delay, Anemia ORPHA:79402
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Ataxia-Pancytopenia Syndrome
Decreased circulating antibody level, Abnormal platelet function, Acute myelomonocytic leukemia ORPHA:2585
Immunodeficiency, Common Variable, 10
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:615577
Letterer-Siwe Disease
Pallor, Hepatosplenomegaly, Neutropenia, Anemia, Thrombocytopenia OMIM:246400
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Decre... ORPHA:331206
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Short stature, Intrauterine growth retardation, Neutropenia OMIM:617056
Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia OMIM:300653
Autoimmune Lymphoproliferative Syndrome
Non-Hodgkin lymphoma, Basal cell carcinoma, T-cell lymphoma, Bone marrow hypocellularity, Neoplas... ORPHA:3261
Aregenerative Anemia
Abnormal proportion of CD8-positive T cells, Neutropenia, Pallor, Erythroid hypoplasia, Decreased... ORPHA:101096
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Splenomegaly, Normocytic anemia, Reticulocytosis, Normochromic a... OMIM:235700
Sneddon Syndrome
Decreased circulating total IgM OMIM:182410
Bloom Syndrome
Neoplasm of the colon, Esophageal neoplasm, Malignant genitourinary tract tumor, Neoplasm, Decrea... ORPHA:125
Transcobalamin Ii Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:275350
Beta-Thalassemia Intermedia
Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, P... ORPHA:231222
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level OMIM:614069
Bone Marrow Failure Syndrome 4
Short stature, Leukopenia, Rhizomelia, Anemia, Thrombocytopenia OMIM:618116
Attrv122I Amyloidosis
Angina pectoris, Atrial arrhythmia, Aortic valve stenosis, Restrictive cardiomyopathy, Arrhythmia... ORPHA:85451
Lymphoproliferative Syndrome, X-Linked, 1
Burkitt lymphoma, Decreased circulating IgG level, Lymphoma, Reduced natural killer cell activity... OMIM:308240
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Splenomegaly, Pallor, Anisocytosis, Extramedullary hematopoies... ORPHA:231226
Glycogen Storage Disease Vii
Hemolytic anemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Reticulocytosis OMIM:232800
Primary Intestinal Lymphangiectasia
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... ORPHA:90362
Myoclonus, Intractable, Neonatal
Pallor OMIM:617235
Immunodeficiency 46
Anemia, Intermittent thrombocytopenia, Neutropenia OMIM:616740
Fanconi Anemia, Complementation Group U
Chromosome breakage OMIM:617247
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic anemia, Macrocytic dyserythropoietic anemia OMIM:619789
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration
Acanthocytosis OMIM:607236
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Splenomegaly, Pallor, Myeloproliferative disorder, Abnormal neutrophil count, Throm... ORPHA:3226
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia OMIM:603552
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Lysosomal Acid Lipase Deficiency
Vacuolated lymphocytes, Hypovolemia, Hepatosplenomegaly, Hypotension, Bone-marrow foam cells, Ane... ORPHA:275761
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Short stature OMIM:615925
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Anemia ORPHA:371
Alpha-Heavy Chain Disease
Growth delay, Anemia, Splenomegaly ORPHA:100025
Rosaï-Dorfman Disease
Anemia ORPHA:158014
Cyclic Vomiting Syndrome
Pallor, Growth delay OMIM:500007
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Mu-Heavy Chain Disease
Anemia, Abnormal B cell count, Splenomegaly ORPHA:100024
Sitosterolemia 1
Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Chronic hemolytic anemia, Giant platele... OMIM:210250
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Lymphoproliferative disorder, D... OMIM:614700
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Anemia, Intrauterine growth retardation, Cardiomyopathy OMIM:618839
Combined Oxidative Phosphorylation Deficiency 40
Anemia, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Neonatal death OMIM:618835
Hereditary Folate Malabsorption
Megaloblastic anemia, Pallor, Eosinophilia, Pancytopenia, Thrombocytopenia ORPHA:90045
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Anisocytosis, Hepatosplenomegaly, A... OMIM:616860
Dohle Bodies And Leukemia
Leukocyte inclusion bodies, Anemia, Acute myeloid leukemia OMIM:223350
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia, Patent ductus arteriosus ORPHA:2123
Plummer-Vinson Syndrome
Pallor, Hypochromic microcytic anemia, Iron deficiency anemia ORPHA:54028
Mixed-Type Autoimmune Hemolytic Anemia
Pallor, Autoimmune hemolytic anemia ORPHA:90036
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Marburg Hemorrhagic Fever
Lymphopenia, Hypovolemia, Leukopenia, Tachycardia, Reticulocytosis, Hypotension, Abnormal lymphoc... ORPHA:99826
Abetalipoproteinemia
Acanthocytosis OMIM:200100
Agammaglobulinemia, X-Linked
Decreased circulating IgA level, Decreased circulating IgG level, Complete or near-complete absen... OMIM:300755
Osteopetrosis, Autosomal Recessive 8
Anemia, Thrombocytopenia, Splenomegaly OMIM:615085
Autoimmune Hemolytic Anemia, Warm Type
Pallor, Chronic lymphatic leukemia, Autoimmune hemolytic anemia, Splenomegaly ORPHA:90033
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Intrauterine growth retardation OMIM:618838
Congenital Rubella Syndrome
Short stature, Splenomegaly, Patent ductus arteriosus, Anemia, Thrombocytopenia, Intrauterine gro... ORPHA:290
Thymoma
Neoplasm, Abnormal lymphocyte physiology, Neoplasm of the lung, Non-Hodgkin lymphoma, Neoplasm of... ORPHA:99867
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Anemic pallor, Abnormal mean corpuscular volume, T... ORPHA:86839
Hemochromatosis, Type 4
Anemia, Arrhythmia, Cardiomyopathy OMIM:606069
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor OMIM:608423
Immunodeficiency 97 With Autoinflammation
Decreased circulating antibody level, Decreased circulating IgA level, Decreased circulating IgG ... OMIM:619802
Hemochromatosis, Type 3
Anemia, Lymphopenia, Cardiomyopathy, Neutropenia OMIM:604250
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgA level... OMIM:308230
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:618892
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemia, Growth delay, Anemic pallor ORPHA:329971
Lesch-Nyhan Syndrome
Anemia ORPHA:510
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
B-cell lymphoma, Decreased circulating IgA level, Absent specific antibody response, Decreased ci... OMIM:102700
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Bloom Syndrome
Chromosome breakage, Lymphoma, Squamous cell carcinoma, Leukemia, Abnormality of chromosome stabi... OMIM:210900
Senior-Loken Syndrome 4
Anemia OMIM:606996
Arthrogryposis Multiplex Congenita 5
Normocytic anemia, Acanthocytosis, Poikilocytosis, Umbilical hernia, Premature skin wrinkling, Gr... OMIM:618947
Familial Hypoaldosteronism
Orthostatic hypotension, Hypovolemia, Growth delay, Hypotension ORPHA:427
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Pallor, Myeloproliferati... ORPHA:98849
Ataxia-Telangiectasia
Neoplasm, Abnormality of chromosome stability ORPHA:100
Immunodeficiency 48
Panhypogammaglobulinemia OMIM:269840
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:613101
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Schistocytosis, Purpura, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia OMIM:235400
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgE level, Reduced delayed hypersensitivity, Increased circulating IgM leve... OMIM:617241
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level OMIM:312863
Cocaine Intoxication
Supraventricular arrhythmia, Prolonged QRS complex, Cerebral hemorrhage, Diffuse alveolar hemorrh... ORPHA:90068
Amed Syndrome, Digenic
Short stature, Leukopenia, Anemia, Thrombocytopenia, Acute myeloid leukemia OMIM:619151
Autoinflammation With Infantile Enterocolitis
Splenomegaly, Short stature, Thrombocytopenia, Pancytopenia, Anemia, Diffuse alveolar hemorrhage,... OMIM:616050
Transaldolase Deficiency
Anemia, Telangiectasia, Thrombocytopenia, Hepatosplenomegaly ORPHA:101028
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Epistaxis OMIM:612840
Stormorken Syndrome
Short stature, Anemia, Thrombocytopenia, Epistaxis, Asplenia, Howell-Jolly bodies OMIM:185070
Neonatal Lupus Erythematosus
Neutropenia, Splenomegaly, Arrhythmia, Aplastic anemia, Hemolytic anemia, Abnormal electrophysiol... ORPHA:398124
Nephrogenic Diabetes Insipidus
Hypovolemia, Growth delay, Short stature ORPHA:223
Vitamin B12-Responsive Methylmalonic Acidemia
Anemia ORPHA:28
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased circulating IgG level OMIM:615767
Fanconi Anemia, Complementation Group I
Chromosomal breakage induced by crosslinking agents OMIM:609053
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Splenomegaly, Hypochromic microcytic anemia, Schistocytosis, B lymphocytopenia, Growth delay, Sid... OMIM:616084
Immunodeficiency 36
Decreased circulating IgA level, B-cell lymphoma, Decreased circulating IgG level, Chronic lympha... OMIM:616005
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Decreased circulating antibody level OMIM:616910
Immunodeficiency 37
Decreased circulating antibody level OMIM:616098
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia OMIM:616738
Familial Benign Copper Deficiency
Anemia, Short stature ORPHA:1551
Peripartum Cardiomyopathy
Left bundle branch block, Abnormal T-wave, Anemia, Mitral regurgitation, Right ventricular failur... ORPHA:563
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia OMIM:618849
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Abnormal left ventricular function, Hypovolemia, Subarachnoid hemorrhage, Aortic regurgitation, P... ORPHA:91387
Oslam Syndrome
Anemia OMIM:165660
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor, Anemia OMIM:246450
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Decreased hemoglobin concentration, Reticulocytosis ORPHA:713
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased mean corpuscular volume, Leukocytosis, Anisocytosis, Hepatosplenomegaly, Hemolytic anem... OMIM:618278
Amme Complex
Elliptocytosis, Intrauterine growth retardation, Umbilical hernia OMIM:300194
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in... ORPHA:221139
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Abnormal circulating IgG level, Reduced natural killer cell acti... OMIM:300291
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating IgA level, Decreased circulating antibody level OMIM:617744
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Macrocytic anemia, Anemia, Thrombocytopenia, Cardiomyopathy ORPHA:27
Lymphoproliferative Syndrome 2
Decreased lymphocyte proliferation in response to mitogen, Hodgkin lymphoma, Lymphoproliferative ... OMIM:615122
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Retinitis Pigmentosa 51
Pallor OMIM:613464
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Complete or near-complete absence of specific ant... OMIM:613496
Diamond-Blackfan Anemia 11
Anemia of inadequate production, Anemia, Short stature, Neutropenia OMIM:614900
X-Linked Lymphoproliferative Disease
B-cell lymphoma, Burkitt lymphoma, Decreased circulating IgA level, Decreased circulating IgG lev... ORPHA:2442
Idiopathic Pulmonary Hemosiderosis
Pallor, Hepatosplenomegaly, Iron deficiency anemia ORPHA:99931
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Decreased cir... ORPHA:35078
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased circulating antibody level OMIM:619846
Diamond-Blackfan Anemia 10
Steroid-responsive anemia, Short stature, Macrocytic anemia, Patent ductus arteriosus, Growth del... OMIM:613309
Hyperinsulinism Due To Ucp2 Deficiency
Pallor ORPHA:276556
Selective Igm Deficiency
Multiple myeloma, Thyroid carcinoma, Stomach cancer, Decreased circulating total IgM, Non-Hodgkin... ORPHA:331235
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia ORPHA:2668
Maternal Uniparental Disomy Of Chromosome 4
Postnatal growth retardation, Short stature, Acanthocytosis, Abnormal erythrocyte morphology ORPHA:96180
Schnitzler Syndrome
Increased circulating IgM level, Lymphoma ORPHA:37748
Chylomicron Retention Disease
Growth delay, Acanthocytosis ORPHA:71
Gaucher Disease, Type I
Aortic valve stenosis, Splenomegaly, Mitral regurgitation, Thrombocytopenia, Pancytopenia, Hypert... OMIM:230800
Sickle Cell Anemia
Leukocytosis, Splenomegaly, Hemolytic anemia, Target cells, Increased red cell sickling tendency OMIM:603903
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy OMIM:251240
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Schistocytosis OMIM:274150
Microvillus Inclusion Disease
Hypovolemia ORPHA:2290
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level OMIM:617006
Blackfan-Diamond Anemia
Increased mean corpuscular volume, Neutropenia, Short stature, Pallor, Persistence of hemoglobin ... ORPHA:124
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor ORPHA:276575
Hereditary Cryohydrocytosis With Reduced Stomatin
Short stature, Hepatosplenomegaly, Spontaneous hemolytic crises, Stomatocytosis, Postnatal growth... ORPHA:168577
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anemia, Hypertension, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:612922
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Decreased specific pneumococcal... ORPHA:183675
Mogs-Cdg
Decreased circulating antibody level, Decreased circulating IgA level, Decreased circulating IgG ... ORPHA:79330
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Anemia OMIM:613092
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor ORPHA:276580
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6
Bone marrow hypocellularity, Myelodysplasia, Decreased circulating antibody level OMIM:619767
Secondary Intestinal Lymphangiectasia
Decreased circulating IgA level, B-cell lymphoma, Decreased circulating total IgM, Lymphoma, Decr... ORPHA:90363
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anemia, Hypertension, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anemia, Hypertension, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anemia, Hypertension, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:612926
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Osteopetrosis, Autosomal Dominant 3
Anemia, Splenomegaly OMIM:618107
Hydatidiform Mole
Anemia ORPHA:99927
Pearson Marrow-Pancreas Syndrome
Hypoplastic anemia, Neutropenia, Sideroblastic anemia, Pallor, Refractory sideroblastic anemia, E... OMIM:557000
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Increased circulating IgG level, Decreased lymphocyte apoptosis,... OMIM:601859
Arteriosclerosis, Severe Juvenile
Short stature, Myocardial infarction, Delayed puberty, Hypertension, Anemia OMIM:208060
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level ORPHA:85317
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Ovarian Hyperstimulation Syndrome
Hypovolemia, Capillary leak ORPHA:64739
Irida Syndrome
Pallor ORPHA:209981
Fanconi Anemia, Complementation Group E
Neutropenia, Short stature, Anemic pallor, Thrombocytopenia, Pancytopenia, Anemia, Leukemia, Reti... OMIM:600901
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG ... OMIM:617062
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Decre... ORPHA:508533
Wolman Disease
Growth delay, Anemia, Bone-marrow foam cells, Splenomegaly ORPHA:75233
Immunodeficiency 47
Decreased circulating total IgA, Decreased circulating total IgM, Chronic decreased circulating t... OMIM:300972
Fanconi Anemia, Complementation Group L
Chromosomal breakage induced by crosslinking agents, Chromosome breakage OMIM:614083
Transaldolase Deficiency
Telangiectasia, Splenomegaly, Hepatosplenomegaly, Patent ductus arteriosus, Pancytopenia, Anemia,... OMIM:606003
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Leukocytosis, Congenital thrombocytopenia, Hypertension, Anemia OMIM:618886
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anemia, Hypertension, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:612925
Hypobetalipoproteinemia, Familial, 1
Acanthocytosis OMIM:615558
Congenital Factor Ii Deficiency
Joint hemorrhage, Intracranial hemorrhage, Anemia, Epistaxis ORPHA:325
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Tricuspid regurgitation, Short stature, Leukopenia, B lymphocytopenia, Rhizomelic ar... ORPHA:508542
Retinitis Pigmentosa 75
Pallor OMIM:617023
Omenn Syndrome
Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B lymphocytopenia... OMIM:603554
Copper Deficiency, Familial Benign
Anemia OMIM:121270
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Abnormal ... OMIM:600903
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Anemia, Hemophagocytosis, Splenomegaly OMIM:618398
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Solitary Rectal Ulcer Syndrome
Anemia, Hematochezia ORPHA:209964
Sepsis In Premature Infants
Petechiae, Leukocytosis, Splenomegaly, Pallor, Purpura, Neutropenia, Anemia, Thrombocytopenia ORPHA:90051
Fanconi Anemia, Complementation Group A
Neutropenia, Short stature, Anemic pallor, Thrombocytopenia, Pancytopenia, Anemia, Leukemia, Reti... OMIM:227650
Fanconi Anemia, Complementation Group C
Neutropenia, Short stature, Anemic pallor, Thrombocytopenia, Pancytopenia, Anemia, Leukemia, Intr... OMIM:227645
Kenny-Caffey Syndrome, Type 1
Proportionate short stature, Anemia, Birth length less than 3rd percentile, Intrauterine growth r... OMIM:244460
Lambert Syndrome
Decreased circulating antibody level ORPHA:1296
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:612301
Severe Hemophilia A
Joint hemorrhage, Subdural hemorrhage, Intracranial hemorrhage, Epidural hemorrhage, Gastrointest... ORPHA:169802
Congenital Disorder Of Glycosylation, Type Iir
Decreased circulating antibody level OMIM:301045
Fabry Disease
Angina pectoris, Anemia, Arrhythmia, Myocardial infarction, Delayed puberty, Hypertension, Transi... OMIM:301500
Lymphoproliferative Syndrome 1
B-cell lymphoma, Hodgkin lymphoma, Decreased circulating IgG level, Lymphoproliferative disorder,... OMIM:613011
Immunodeficiency 55
Neutropenia, Lymphopenia, Short stature, Dry skin, Absent natural killer cells, Postnatal growth ... OMIM:617827
Choreoacanthocytosis
Acanthocytosis OMIM:200150
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Anemia of inadequate production, Anemia, Splenomegaly OMIM:612714
8P11.2 Deletion Syndrome
Spherocytosis, Short stature, Splenomegaly, Hemolytic anemia, Growth delay ORPHA:251066
Neutrophilic Dermatosis, Acute Febrile
Anemia, Dilated cardiomyopathy, Small vessel vasculitis OMIM:608068
Isolated Permanent Neonatal Diabetes Mellitus
Hypovolemia, Intrauterine growth retardation ORPHA:99885
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Pallor ORPHA:439218
Lig4 Syndrome
Acute leukemia, Abnormality of chromosome stability, Lymphoma ORPHA:99812
Fumarase Deficiency
Pallor, Polycythemia OMIM:606812
Thymic Tumor
Neuroendocrine neoplasm, Neoplasm of the thymus, Dysgammaglobulinemia ORPHA:100100
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Abnormal ... OMIM:301000
Proteasome-Associated Autoinflammatory Syndrome 2
Abnormal circulating IgM level, Increased circulating IgA level, Increased circulating IgG level OMIM:618048
Dravet Syndrome
Pallor ORPHA:33069
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Short stature, Anemia, Thrombocytopenia, Intrauterine growth retar... ORPHA:3322
Nephronophthisis 1
Hypertension, Anemia, Growth delay OMIM:256100
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Anemia ORPHA:3405
Waldenström Macroglobulinemia
Splenomegaly, Pallor, Normocytic anemia, Abnormality of neutrophils, Purpura, Leukemia ORPHA:33226
American Trypanosomiasis
Pallor, Splenomegaly ORPHA:3386
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Panhypogammaglobulinemia OMIM:601457
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Fibroma, Decreased circulating antibody level OMIM:619750
Non-Functioning Paraganglioma
Pallor ORPHA:94080
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Decre... ORPHA:276
Fanconi Anemia, Complementation Group F
Chromosomal breakage induced by crosslinking agents OMIM:603467
Icf Syndrome
Lymphopenia, Short stature, Abnormality of neutrophils, Umbilical hernia, Anemia ORPHA:2268
Immunodeficiency 52
Decreased circulating antibody level OMIM:617514
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Delayed puberty, Hypovolemia, Hypotension ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Hypovolemia, Hypotension ORPHA:289548
Immunodeficiency 57 With Autoinflammation
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618108
Cowden Syndrome 1
Breast carcinoma, Fibroadenoma of the breast, Hamartomatous polyposis, Decreased circulating anti... OMIM:158350
Nephronophthisis 4
Growth delay, Anemia OMIM:606966
Mcleod Syndrome
Acanthocytosis, Splenomegaly OMIM:300842
Diamond-Blackfan Anemia 1
Congenital hypoplastic anemia, Pallor, Short stature, Thrombocytosis, Neutropenia, Thrombocytopen... OMIM:105650
Gamma-Heavy Chain Disease
Splenomegaly, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Autoimmune hemolytic a... ORPHA:100026
Simple Cryoglobulinemia
B-cell lymphoma, Multiple myeloma, Complement deficiency, Monoclonal elevation of circulating IgA... ORPHA:91139
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgA level, Verrucae, Decreased circulating IgG level ORPHA:275
Alopecia Antibody Deficiency
Decreased circulating antibody level ORPHA:1006
Meningioma
Spinal meningioma, Chromosomal breakage induced by ionizing radiation, Neurofibromas, Intracrania... ORPHA:2495
Lymphoproliferative Syndrome, X-Linked, 2
Decreased circulating antibody level OMIM:300635
Reticular Dysgenesis
Decreased circulating antibody level ORPHA:33355
Fanconi Anemia, Complementation Group D2
Chromosomal breakage induced by crosslinking agents, Leukemia OMIM:227646
Riddle Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM ORPHA:420741
Lymphangiectasia, Intestinal
Decreased circulating IgG level OMIM:152800
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta