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
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Polyclonal elevation of IgM, Monoclonal immunoglobulin M proteinemia, Lymphoma OMIM:153600
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Anemia, Steroid-responsive anemia OMIM:618312
Immunoerythromyeloid Hypoplasia
Lymphoproliferative disorder, Decreased circulating IgG level OMIM:242880
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Lymphoma, Hodgkin, Classic
Hodgkin lymphoma, Polyclonal elevation of IgM OMIM:236000
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Growth delay, Anemia, Splenomegaly, Decreased mean corpuscular volume, Pallor, Poiki... OMIM:615234
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Growth delay, Erythroid hyperplasia, Anisocytosis, Anemia of inadequate producti... OMIM:615631
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Pallor, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Anisopoik... OMIM:616689
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Decreased circulating IgG level OMIM:247630
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Intrauterine growth retardation, Anemia ORPHA:2802
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Lymphoproliferative disorder, D... OMIM:615897
Chromosomal Instability With Tissue-Specific Radiosensitivity
Neoplasm, Abnormality of chromosome stability OMIM:215510
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Elevated red cell adenosine deaminase level, Anisopoikilocytosis, Hemolytic anemia, Stomatocytosis OMIM:102730
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res... OMIM:616452
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Mild postnatal growt... OMIM:224120
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Growth delay, Reticulocytopenia, Anisopoikilocytosis, Dysplastic erythropoesis, Anemia, Decreased... ORPHA:300298
Immunodeficiency, Common Variable, 3
Chronic decreased circulating total IgG, Decreased circulating total IgM, Decreased circulating I... OMIM:613493
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Agammaglobulinemia OMIM:616911
Immunodeficiency, Common Variable, 14
Defective B cell differentiation, Decreased specific antibody response to vaccination, Decreased ... OMIM:617765
Porokeratosis 1, Multiple Types
Abnormality of chromosome stability, Neoplasm of the skin OMIM:175800
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly ORPHA:294
Immunodeficiency 11
Decreased circulating antibody level OMIM:615206
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, De... OMIM:606843
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Pallor, Splenomegaly ORPHA:228312
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Breath-Holding Spells
Iron deficiency anemia, Pallor OMIM:607578
Acute Myelomonocytic Leukemia
Leukocytosis, Thrombocytopenia, Anemia, Pallor, Eosinophilia ORPHA:517
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ... ORPHA:766
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:206100
N Syndrome
Neoplasm, Leukemia, Abnormality of chromosome stability OMIM:310465
Phosphoserine Phosphatase Deficiency
Intrauterine growth retardation, Postnatal growth retardation OMIM:614023
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level OMIM:618987
Diamond-Blackfan Anemia 13
Elevated red cell adenosine deaminase level, Normocytic anemia OMIM:615909
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor... OMIM:206000
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Retinitis Pigmentosa 42
Pallor OMIM:612943
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating IgG ... ORPHA:859
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6, Decreased circulating IgG level, Increased circulating IgE l... OMIM:618944
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Immunodeficiency 70
Decreased circulating antibody level, Decreased circulating total IgG, Decreased circulating tota... OMIM:618969
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM OMIM:606445
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Congenital thrombocytopenia, Petechiae, Anemia of inadequate production, Acanthocytosis, Poikiloc... OMIM:300367
Elliptocytosis 1
Hemolytic anemia, Elliptocytosis, Pallor, Splenomegaly OMIM:611804
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Nonspherocytic hemolytic anemia, Heinz body anemia, Elliptocytosis, Poikilocytosis OMIM:141700
Scleroderma, Familial Progressive
Abnormality of chromosome stability, Chromosome breakage OMIM:181750
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Retinitis Pigmentosa 81
Pallor OMIM:617871
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Erythroid hyperplasia, Anemia of inadequate production, Anemia, Splenomegaly, Sh... OMIM:613673
Developmental And Epileptic Encephalopathy 50
Anisopoikilocytosis, Schistocytosis, Anemia, Acanthocytosis OMIM:616457
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM OMIM:610798
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgE, Agammaglobulinemia, Decreased circulating IgA level, Decreased circula... OMIM:300400
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis OMIM:206200
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Beta-Thalassemia Major
Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration, Persistence o... ORPHA:231214
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Anisocytosis, Splenomegaly, He... OMIM:300908
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Multiple myeloma, Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia, Lymphoma ORPHA:209004
Congenital Dyserythropoietic Anemia Type Iii
Abnormal erythrocyte morphology, Anisocytosis, Anemia, Short stature, Increased mean corpuscular ... ORPHA:98870
Pyropoikilocytosis, Hereditary
Microspherocytosis, Hemolytic anemia, Elliptocytosis, Pyropoikilocytosis OMIM:266140
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Anemia OMIM:611283
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... OMIM:608106
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Hypochromic anemia, Microcytic anemia, Pappenheimer bodies, Erythroid hyperplasia, Sideroblastic ... OMIM:600462
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618261
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, Chromosomal breakage induced by crosslinking agents, T-cell acute lymphob... OMIM:605724
Fetal Parvovirus Syndrome
Intrauterine growth retardation, Thrombocytopenia, Anemia, Hypertrophic cardiomyopathy ORPHA:295
Retinitis Pigmentosa 60
Pallor OMIM:613983
Chromosome 5Q Deletion Syndrome
Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia OMIM:153550
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies OMIM:140700
Myeloma, Multiple
Multiple myeloma, Paraproteinemia OMIM:254500
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Short stature, Anemia ORPHA:3319
Elliptocytosis 3
Chronic hemolytic anemia, Elliptocytosis, Decreased mean corpuscular volume, Pyropoikilocytosis OMIM:617948
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia OMIM:619398
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, ... OMIM:109270
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Hepatosplenomegaly, Anemia OMIM:273680
Fanconi Anemia, Complementation Group G
Myelodysplasia, Abnormality of chromosome stability, Leukemia OMIM:614082
Trimethylaminuria
Neutropenia, Hypertension, Tachycardia, Anemia, Splenomegaly OMIM:602079
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Anemia OMIM:312500
Hereditary Elliptocytosis
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Abnormal erythrocyte morpholog... ORPHA:288
X-Linked Sideroblastic Anemia
Pallor, Anemia, Splenomegaly ORPHA:75563
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Thrombocytopenia, Hepatosplenomegaly, Anemia OMIM:610539
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Immunodeficiency, Common Variable, 7
Reduced isohemagglutinin level, Decreased circulating total IgG, Decreased circulating IgA level,... OMIM:614699
Diamond-Blackfan Anemia 9
Growth delay, Anemia OMIM:613308
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Retinitis Pigmentosa And Erythrocytic Microcytosis
Elliptocytosis, Anisocytosis, Anemia, Decreased mean corpuscular volume, Pallor, Poikilocytosis OMIM:616959
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level OMIM:242870
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Nephronophthisis
Anemia ORPHA:655
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia OMIM:615592
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Primary Myelofibrosis
Ecchymosis, Thrombocytosis, Purpura, Leukocytosis, Extramedullary hematopoiesis, Pancytopenia, Th... ORPHA:824
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Anemia OMIM:617408
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Agammaglobulinemia 2, Autosomal Recessive
Agammaglobulinemia OMIM:613500
Congenital Atransferrinemia
Anemia ORPHA:1195
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619281
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Splenomegaly, Erythroid hyperplasia, Anemia of inadequate production OMIM:237800
Cryohydrocytosis
Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly OMIM:185020
Apolipoprotein A-I Deficiency
Anemia, Splenomegaly ORPHA:425
Optic Atrophy 9
Pallor OMIM:616289
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability OMIM:600546
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia OMIM:615214
Immunodeficiency, Common Variable, 1
Decreased circulating total IgM, Impaired T cell function, Decreased circulating IgG level, Decre... OMIM:607594
Hydrops Fetalis, Nonimmune
Congestive heart failure, Anemia OMIM:236750
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Bleeding Disorder, Platelet-Type, 19
Epistaxis, Anemia, Macrothrombocytopenia OMIM:616176
Immunodeficiency, Common Variable, 13
Decreased circulating antibody level, Acute lymphoblastic leukemia OMIM:616873
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating antibody level OMIM:617744
Pancytopenia And Occlusive Vascular Disease
Thrombocytopenia, Leukopenia, Pancytopenia, Anemia OMIM:167850
Spherocytosis, Type 5
Reticulocytosis, Spherocytosis, Hemolytic anemia, Splenomegaly OMIM:612690
Spherocytosis, Type 3
Spherocytosis, Hemolytic anemia OMIM:270970
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Growth delay, Neutropenia, Reticulocytopenia, Short stature, Macrocytic anemia OMIM:612527
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia OMIM:131400
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Short stature, Decreased mean corpuscular volume, Hepatospleno... OMIM:611590
Refractory Anemia
Erythroid hypoplasia, Abnormal cardiac ventricular function, Neutropenia, Normocytic anemia, Thro... ORPHA:98826
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Short stature, Splenomegaly ORPHA:66518
Acute Peripheral Arterial Occlusion
Leukocytosis, Pallor ORPHA:90064
Beta-Thalassemia
Microcytic anemia, Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin, Skin ulcer, Pallor ORPHA:848
Fanconi Anemia, Complementation Group Q
Chromosome breakage OMIM:615272
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... OMIM:605258
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:611926
Immunodeficiency 54
Lymphoproliferative disorder, Chromosome breakage OMIM:609981
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Immunodeficiency 60
Decreased circulating IgE, Decreased circulating total IgM, Decreased circulating IgG level, Decr... OMIM:618394
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Short Stature With Microcephaly And Distinctive Facies
Anisopoikilocytosis, Anemia, Severe short stature OMIM:615789
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Anemia, Splenomegaly, Leukemia OMIM:133180
Immunodeficiency 61
Agammaglobulinemia, Colon cancer OMIM:300310
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Growth delay, Extramedullar... ORPHA:822
Peripheral Cone Dystrophy
Pallor OMIM:609021
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Short stature, Abnormal reticulocyte morphology ORPHA:2522
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Leukopenia, Splenomegaly, Anemia OMIM:615285
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Thrombocytopenia, Pallor, Short stature ORPHA:49827
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Hemolytic anemia, Increased ... ORPHA:3202
Elliptocytosis 2
Reticulocytosis, Hemolytic anemia, Elliptocytosis OMIM:130600
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Acute Erythroid Leukemia
Pancytopenia, Erythroid hypoplasia, Leukopenia, Anemia ORPHA:318
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Hepatosplenomegaly, Granulocytopenia, Anemia OMIM:608898
Spherocytosis, Type 4
Reticulocytosis, Spherocytosis, Hemolytic anemia, Splenomegaly OMIM:612653
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor, Short stature ORPHA:2786
Fanconi Anemia, Complementation Group N
Medulloblastoma, Nephroblastoma, Chromosomal breakage induced by crosslinking agents, Neuroblastoma OMIM:610832
Fanconi Anemia, Complementation Group S
Chromosome breakage, Ovarian neoplasm, Breast carcinoma OMIM:617883
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Arrhythmia, Patent ductus arteriosus, Hypertension, Thrombocytopenia, Sideroblastic anemia, Intra... OMIM:617021
Retinohepatoendocrinologic Syndrome
Pallor OMIM:268040
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Thrombocytopenia, Pallor, Pancytopenia OMIM:613839
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level OMIM:251190
Immune Deficiency Disease
Decreased circulating total IgM OMIM:242850
Fanconi Anemia, Complementation Group T
Thrombocytopenia, Short stature, Pancytopenia, Anemia OMIM:616435
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Verrucae OMIM:193670
Familial Pseudohyperkalemia
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume ORPHA:90044
Hb Bart'S Hydrops Fetalis
Pallor, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
Lathosterolosis
Meningocele, Anisopoikilocytosis, Thrombocytopenia, Intrauterine growth retardation, Abnormal pla... ORPHA:46059
Immunodeficiency 55
Neutropenia, Postnatal growth retardation, Short stature, Intrauterine growth retardation, Dry skin OMIM:617827
Cernunnos-Xlf Deficiency
T lymphocytopenia, Lymphopenia, Growth delay, Thrombocytopenia, B lymphocytopenia, Anemia ORPHA:169079
Immunodeficiency 50
Decreased circulating antibody level OMIM:300988
Diamond-Blackfan Anemia 12
Elevated red cell adenosine deaminase level, Normochromic anemia, Macrocytic anemia, Reticulocyto... OMIM:615550
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Stomatocytosis, Increased mean platelet volume, Petechiae, Splenomegaly, Ecchym... OMIM:153670
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Glutamate-Cysteine Ligase Deficiency
Reticulocytosis, Hepatosplenomegaly, Hemolytic anemia ORPHA:33574
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Short stature, Anemia OMIM:618165
Retinitis Pigmentosa 70
Pallor OMIM:615922
Diamond-Blackfan Anemia 5
Erythroid hypoplasia, Reticulocytopenia, Short stature, Leukopenia, Macrocytic anemia OMIM:612528
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Lathosterolosis
Growth delay, Increased mean platelet volume, Anisopoikilocytosis, Acanthocytosis, Myelomeningoce... OMIM:607330
Leishmaniasis
Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, Splenomegaly, Anemia, Leukopenia,... ORPHA:507
Immunodeficiency 48
Panhypogammaglobulinemia OMIM:269840
Evans Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... ORPHA:1959
Agammaglobulinemia 8, Autosomal Dominant
Agammaglobulinemia OMIM:616941
Spherocytosis, Type 1
Reticulocytosis, Spherocytosis, Hemolytic anemia, Splenomegaly OMIM:182900
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Megaloblastic Anemia, Folate-Responsive
Hypersegmentation of neutrophil nuclei, Episodic hemolytic anemia, Folate-responsive megaloblasti... OMIM:601775
Atransferrinemia
Hypochromic anemia, Congestive heart failure OMIM:209300
Bloom Syndrome
Abnormality of chromosome stability, Lymphoma, Leukemia, Squamous cell carcinoma, Chromosome brea... OMIM:210900
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Splenomegaly, Anemia of inadequate production OMIM:224100
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Epistaxis, Thrombocytopenia, Splenomegaly OMIM:314050
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Fragile X Syndrome
Folate-dependent fragile site at Xq28 OMIM:300624
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Splenomegaly OMIM:179700
Immunodeficiency, Common Variable, 2
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Lymphoma, Neo... OMIM:240500
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Increased red cell hemolysi... OMIM:194380
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level OMIM:614878
Overhydrated Hereditary Stomatocytosis
Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly OMIM:185000
Specific Granule Deficiency 2
Thrombocytopenia, Absent neutrophil specific granules, Neutropenia, Anemia OMIM:617475
Dermatitis, Atopic
Pallor, Facial erythema, Dry skin OMIM:603165
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia, Abnormal hemoglobin ORPHA:846
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Thrombocytopenia 5
Thrombocytopenia, Neutropenia, Anemia, Epistaxis OMIM:616216
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia OMIM:200900
Hemochromatosis, Type 4
Cardiomyopathy, Arrhythmia, Anemia OMIM:606069
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Leukemia, Abnormality of chromosome stability, Chromosome breakage OMIM:208910
Autoimmune Lymphoproliferative Syndrome, Type V
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating IgG ... OMIM:616100
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Pyrimidine-responsive megalo... OMIM:258900
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Hemochromatosis, Type 2B
Cardiomyopathy, Congestive heart failure, Anemia, Splenomegaly OMIM:613313
Rh-Null, Regulator Type
Hemolytic anemia, Stomatocytosis OMIM:268150
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level OMIM:233650
Optic Atrophy 1
Pallor OMIM:165500
Hypobetalipoproteinemia, Familial, 1
Acanthocytosis OMIM:615558
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Bleeding Disorder, Platelet-Type, 16
Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Anemia, Platelet anisocytosis OMIM:187800
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:618963
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Hemolytic anemia, Pallor, Splenomegaly ORPHA:98375
Retinitis Pigmentosa 73
Pallor OMIM:616544
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Myelofibrosis
Purpura, Myeloproliferative disorder, Pallor, Splenomegaly OMIM:254450
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia OMIM:613501
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Arrhythmia, Reticulocytosis, Thrombocytopenia, Myocardial infa... ORPHA:54057
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
Retinitis Pigmentosa 27
Pallor OMIM:613750
Amme Complex
Elliptocytosis OMIM:300194
Focal Segmental Glomerulosclerosis 1
Hypertension, Anemia OMIM:603278
Immunodeficiency 25
Increased circulating IgM level, Increased circulating IgE level, Decreased circulating IgG2 leve... OMIM:610163
Nut Midline Carcinoma
Neuroblastoma, Pancreatic squamous cell carcinoma, Neoplasm, Oropharyngeal squamous cell carcinom... ORPHA:443167
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Fanconi Anemia, Complementation Group L
Abnormality of chromosome stability, Chromosome breakage OMIM:614083
Immunodeficiency 64
Increased circulating IgM level, Defective T cell proliferation, B-cell lymphoma, Increased circu... OMIM:618534
Immunodeficiency 14A, Autosomal Dominant
Increased circulating IgM level, Decreased circulating IgG2 level, Decreased specific pneumococca... OMIM:615513
Anemia, Sideroblastic, 1
Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic anemia, Anemia of inadequate prod... OMIM:300751
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Increased circulating IgG level, Facial papilloma OMIM:619220
Fragile X Syndrome
Folate-dependent fragile site at Xq28 ORPHA:908
Cold Agglutinin Disease
Hemolytic anemia, Pallor, Splenomegaly ORPHA:56425
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Growth delay, Thrombocytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:611490
Idiopathic Aplastic Anemia
Neutropenia, Epistaxis, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Anemia, Retinal hemorr... ORPHA:88
Majeed Syndrome
Microcytic anemia, Growth delay, Erythroid hyperplasia, Delayed puberty, Anemia of inadequate pro... OMIM:609628
Lymphoproliferative Syndrome, X-Linked, 1
Increased circulating IgM level, Decreased circulating antibody level, Burkitt lymphoma, Lymphoma... OMIM:308240
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hypoplastic anemia, A... OMIM:159550
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating total IgM, Decreased circulating antibody level, Decreased lymphocyte proli... ORPHA:331206
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation OMIM:615361
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:615577
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Pallor, Splenomegaly ORPHA:90037
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Short stature, Anemia ORPHA:3204
Malaria
Thrombocytopenia, Anemia ORPHA:673
Colchicine Poisoning
Cardiogenic shock, Arrhythmia, Hypovolemia, Leukocytosis, Hypotension, Congestive heart failure, ... ORPHA:31824
Neurodegeneration, Infantile-Onset, Biotin-Responsive
Decreased circulating IgG level OMIM:618973
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Anemia OMIM:618313
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphoproliferative disorder, Decreased specific anti-polysaccharide antibody level, B-cell lymph... OMIM:300853
Ataxia-Pancytopenia Syndrome
Decreased circulating antibody level, Acute myelomonocytic leukemia, Abnormal platelet function ORPHA:2585
Acute Adrenal Insufficiency
Orthostatic hypotension, Hypovolemia, Hypotension, Normocytic anemia, Myocardial infarction, Dela... ORPHA:95409
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Intermediate Generalized Junctional Epidermolysis Bullosa
Growth delay, Anemia ORPHA:79402
Letterer-Siwe Disease
Neutropenia, Thrombocytopenia, Anemia, Hepatosplenomegaly, Pallor OMIM:246400
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Decreased circulating IgG2 level, Absent specific antibody respo... OMIM:102700
Potocki-Shaffer Syndrome
Delayed puberty, Hypertension, Anemia ORPHA:52022
Autoimmune Lymphoproliferative Syndrome
Non-Hodgkin lymphoma, Abnormal serum interleukin level, Decreased specific anti-polysaccharide an... ORPHA:3261
Immunoglobulin A Deficiency 2
Decreased circulating IgA level OMIM:609529
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Intrauterine growth retardation, Short stature, Neutropenia, Anemia OMIM:617056
Mitochondrial Myopathy And Sideroblastic Anemia
Delayed puberty, Anemia ORPHA:2598
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Bloom Syndrome
Myelodysplasia, Decreased circulating antibody level, Esophageal neoplasm, Neoplasm of the breast... ORPHA:125
Bone Marrow Failure Syndrome 4
Rhizomelia, Thrombocytopenia, Anemia, Short stature, Leukopenia OMIM:618116
Transcobalamin Ii Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:275350
Aregenerative Anemia
Erythroid hypoplasia, Decreased proportion of CD4-positive helper T cells, Neutropenia, Reticuloc... ORPHA:101096
Glut1 Deficiency Syndrome 2
Reticulocytosis OMIM:612126
Sitosterolemia 1
Episodic hemolytic anemia, Chronic hemolytic anemia, Stomatocytosis, Reticulocytosis, Giant plate... OMIM:210250
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Elliptocytosis, Reticulocytosis, Anisocytosis, Decreased mean corpuscul... OMIM:618278
Beta-Thalassemia Intermedia
Persistence of hemoglobin F, Leukocytosis, Extramedullary hematopoiesis, Erythroid hyperplasia, I... ORPHA:231222
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level OMIM:614069
Pyruvate Kinase Deficiency Of Red Cells
Intrauterine growth retardation, Reticulocytosis, Chronic hemolytic anemia, Splenomegaly OMIM:266200
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration, Persistence o... ORPHA:231226
Immunodeficiency, Common Variable, 8, With Autoimmunity
Lymphoproliferative disorder, Decreased specific antibody response to vaccination, Lymphoma, Decr... OMIM:614700
Senior-Loken Syndrome 1
Anemia OMIM:266900
Hyperlysinemia, Type I
Anemia OMIM:238700
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Thrombocytopenia, Anemia, Splenomegaly OMIM:603552
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration
Acanthocytosis OMIM:607236
Rosaï-Dorfman Disease
Anemia ORPHA:158014
Immunodeficiency 36
Decreased circulating antibody level, Chronic lymphatic leukemia, B-cell lymphoma OMIM:616005
Fanconi Anemia, Complementation Group V
Thrombocytopenia, Short stature, Neutropenia, Anemia OMIM:617243
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Reticulocytosis, Normocytic anemia, Normochromic anemia, Splenom... OMIM:235700
Mu-Heavy Chain Disease
Abnormal B cell count, Anemia, Splenomegaly ORPHA:100024
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Thrombocytopenia, Abnormal neutrophil count, Splenomegaly, Myeloproliferative disor... ORPHA:3226
Combined Oxidative Phosphorylation Deficiency 42
Intrauterine growth retardation, Neonatal death, Cardiomyopathy, Anemia OMIM:618839
Combined Oxidative Phosphorylation Deficiency 40
Intrauterine growth retardation, Neonatal death, Anemia, Hypertrophic cardiomyopathy OMIM:618835
Alpha-Heavy Chain Disease
Growth delay, Anemia, Splenomegaly ORPHA:100025
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Erythroid hyperplasia, Anisocytosis, Anemia, Splenomegaly, Decreased mean corpuscula... OMIM:616860
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Vacuolated lymphocytes, Hypovolemia, Hypotension, Anemia, Hypersplenism, ... ORPHA:275761
Glycogen Storage Disease Vii
Reticulocytosis, Hemolytic anemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:232800
Phosphoglycerate Kinase 1 Deficiency
Reticulocytosis, Hemolytic anemia OMIM:300653
Immunodeficiency 46
Intermittent thrombocytopenia, Neutropenia, Anemia OMIM:616740
Cyclic Vomiting Syndrome
Growth delay, Pallor OMIM:500007
Growth Hormone Deficiency, Isolated Partial
Short stature, Postnatal growth retardation OMIM:615925
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Mcleod Syndrome
Hepatosplenomegaly, Abnormal erythrocyte morphology, Acanthocytosis OMIM:300842
Hemochromatosis, Type 3
Lymphopenia, Cardiomyopathy, Neutropenia, Anemia OMIM:604250
Abetalipoproteinemia
Acanthocytosis OMIM:200100
Hereditary Folate Malabsorption
Megaloblastic anemia, Pancytopenia, Thrombocytopenia, Pallor, Eosinophilia ORPHA:90045
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Anemia, Splenomegaly OMIM:615085
Agammaglobulinemia 4, Autosomal Recessive
Agammaglobulinemia OMIM:613502
Combined Oxidative Phosphorylation Deficiency 41
Intrauterine growth retardation, Anemia OMIM:618838
Plummer-Vinson Syndrome
Iron deficiency anemia, Hypochromic microcytic anemia, Pallor ORPHA:54028
Congenital Rubella Syndrome
Patent ductus arteriosus, Thrombocytopenia, Anemia, Splenomegaly, Intrauterine growth retardation... ORPHA:290
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Patent ductus arteriosus, Anemia ORPHA:2123
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Pallor ORPHA:90036
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Anemia ORPHA:371
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Pallor, Splenomegaly ORPHA:90033
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Thrombocytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:613101
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor, Growth delay, Anemia ORPHA:329971
Senior-Loken Syndrome 4
Anemia OMIM:606996
Lesch-Nyhan Syndrome
Anemia ORPHA:510
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Increased circulating IgM level, Increased circula... OMIM:617241
Arthrogryposis Multiplex Congenita 5
Premature skin wrinkling, Growth delay, Umbilical hernia, Normocytic anemia, Acanthocytosis, Intr... OMIM:618947
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Epistaxis, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:612840
Rhabdoid Tumor
Thrombocytopenia, Hypertension, Internal hemorrhage, Anemia ORPHA:69077
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level OMIM:312863
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Ataxia-Telangiectasia
Neoplasm, Abnormality of chromosome stability ORPHA:100
Familial Hypoaldosteronism
Hypotension, Growth delay, Orthostatic hypotension, Hypovolemia ORPHA:427
Harderoporphyria
Reticulocytosis, Hemolytic anemia, Splenomegaly OMIM:618892
Stormorken Syndrome
Epistaxis, Thrombocytopenia, Asplenia, Short stature, Anemia, Howell-Jolly bodies OMIM:185070
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Refractory Anemia With Excess Blasts
Anemic pallor, Leukocytosis, Thrombocytopenia, Acute myeloid leukemia, Anemia of inadequate produ... ORPHA:86839
Schnitzler Syndrome
Leukocytosis, Vasculitis, Anemia, Splenomegaly ORPHA:37748
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Increased circulating IgM level, Dysgammaglobulinemia, Increased ... OMIM:300291
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor OMIM:608423
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Decreased circulating antibody level, Agammaglobulinemia OMIM:616910
Dohle Bodies And Leukemia
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia OMIM:223350
Cocaine Intoxication
Ventricular arrhythmia, Ischemic stroke, Prolonged QRS complex, Supraventricular arrhythmia, Hypo... ORPHA:90068
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Purpura, Reticulocytosis, Thrombocytopenia, Schistocytosis OMIM:235400
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Thrombocytopenia, ... ORPHA:98849
Amed Syndrome, Digenic
Thrombocytopenia, Acute myeloid leukemia, Anemia, Short stature, Leukopenia OMIM:619151
Agammaglobulinemia 6, Autosomal Recessive
Agammaglobulinemia OMIM:612692
Transaldolase Deficiency
Thrombocytopenia, Hepatosplenomegaly, Telangiectasia, Anemia ORPHA:101028
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Increased circulating IgE level OMIM:615767
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Reduced natural killer cell count, Thrombocytopenia, Diffuse alveolar hemorrhage, A... OMIM:616050
Vitamin B12-Responsive Methylmalonic Acidemia
Anemia ORPHA:28
Neonatal Lupus Erythematosus
Heart block, Hemolytic anemia, Abnormal electrophysiology of sinoatrial node origin, Arrhythmia, ... ORPHA:398124
Fanconi Anemia, Complementation Group I
Chromosomal breakage induced by crosslinking agents OMIM:609053
Oslam Syndrome
Anemia OMIM:165660
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased c... ORPHA:221139
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Nephrogenic Diabetes Insipidus
Growth delay, Short stature, Hypovolemia ORPHA:223
Immunodeficiency 37
Decreased circulating antibody level OMIM:616098
Lymphoproliferative Syndrome 2
Lymphoproliferative disorder, Decreased circulating antibody level, Lymphoma, Hodgkin lymphoma, D... OMIM:615122
Ichthyosis, Congenital, Autosomal Recessive 5
Acanthocytosis OMIM:604777
Diamond-Blackfan Anemia 10
Growth delay, Patent ductus arteriosus, Reticulocytopenia, Short stature, Anemia, Macrocytic anemia OMIM:613309
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, De... OMIM:308230
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, Growth delay, Sideroblastic anemia, B lymphocytopenia, Splenomegal... OMIM:616084
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Ischemic stroke, Aortic regurgitation, Hypovolemia, Subarachnoid hemorrhage, Abnormal left ventri... ORPHA:91387
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Reticulocytosis, Hemolytic anemia, Decreased hemoglobin concentration ORPHA:713
Familial Benign Copper Deficiency
Short stature, Anemia ORPHA:1551
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Pancytopenia, Acute myeloid leukemia, Hypoplastic anemia, Aplastic anemia, Pallor ORPHA:447
X-Linked Lymphoproliferative Disease
Increased proportion of CD25+ mast cells, Increased circulating IgM level, Decreased circulating ... ORPHA:2442
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Short stature, Anemia OMIM:226670
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor, Anemia OMIM:246450
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Partial IgA deficiency, Lack of T cell function, Decreased lymphocyte proliferation in response t... ORPHA:35078
Dermotrichic Syndrome
Anemia, Proportionate short stature ORPHA:99688
Immunodeficiency, Common Variable, 6
Chronic decreased circulating total IgG, Complete or near-complete absence of specific antibody r... OMIM:613496
Diamond-Blackfan Anemia 11
Short stature, Neutropenia, Anemia, Anemia of inadequate production OMIM:614900
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Neutropenia, Anemia OMIM:616738
Peripartum Cardiomyopathy
Cardiogenic shock, Palpitations, Reduced ejection fraction, Right ventricular failure, Dilated ca... ORPHA:563
Vitamin B12-Unresponsive Methylmalonic Acidemia
Thrombocytopenia, Anemia, Leukopenia, Cardiomyopathy, Macrocytic anemia ORPHA:27
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume OMIM:618849
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Anemia OMIM:613092
Selective Igm Deficiency
Non-Hodgkin lymphoma, Multiple myeloma, Decreased specific antibody response to vaccination, Para... ORPHA:331235
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia ORPHA:2668
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy OMIM:251240
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Thrombocytopenia, Growth delay, Neutropenia, Anemia ORPHA:289916
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Lymphopenia, Growth delay, Patent ductus arteriosus, Neutropen... OMIM:612541
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia
Decreased circulating antibody level OMIM:618042
Maternal Uniparental Disomy Of Chromosome 4
Abnormal erythrocyte morphology, Short stature, Postnatal growth retardation, Acanthocytosis ORPHA:96180
Cinca Syndrome
Leukocytosis, Growth delay, Anemia, Hepatosplenomegaly, Eosinophilia OMIM:607115
Chylomicron Retention Disease
Growth delay, Acanthocytosis ORPHA:71
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level OMIM:617006
Gaucher Disease, Type I
Epistaxis, Hypertension, Pancytopenia, Thrombocytopenia, Aortic valve stenosis, Splenomegaly, Hyp... OMIM:230800
Hyperinsulinism Due To Ucp2 Deficiency
Pallor ORPHA:276556
Hereditary Cryohydrocytosis With Reduced Stomatin
Stomatocytosis, Postnatal growth retardation, Short stature, Hepatosplenomegaly, Spontaneous hemo... ORPHA:168577
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Increased circulating IgE level, Decreased circulating antibody level, Decreased lymphocyte proli... ORPHA:508533
Osteopetrosis, Autosomal Dominant 3
Anemia, Splenomegaly OMIM:618107
Microvillus Inclusion Disease
Hypovolemia ORPHA:2290
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia, Schistocytosis OMIM:274150
Wiskott-Aldrich Syndrome, Autosomal Dominant
Increased circulating IgE level, Decreased specific anti-polysaccharide antibody level, Abnormal ... OMIM:600903
Epilepsy-Telangiectasia Syndrome
Decreased circulating antibody level, Decreased circulating IgA level ORPHA:1951
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Pure red cell aplasia, Thrombo... ORPHA:124
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor ORPHA:276575
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgM level, Increased circulating IgA level, Increased circulating IgG level... OMIM:601859
Arteriosclerosis, Severe Juvenile
Hypertension, Myocardial infarction, Delayed puberty, Short stature, Anemia OMIM:208060
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Thrombocytopenia, Microangiopathic hemolytic anemia, Hypertension, Anemia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Thrombocytopenia, Microangiopathic hemolytic anemia, Hypertension, Anemia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Thrombocytopenia, Microangiopathic hemolytic anemia, Hypertension, Anemia OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Thrombocytopenia, Microangiopathic hemolytic anemia, Hypertension, Anemia OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Thrombocytopenia, Microangiopathic hemolytic anemia, Hypertension, Anemia OMIM:612926
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor ORPHA:276580
Transaldolase Deficiency
Patent ductus arteriosus, Thrombocytopenia, Pancytopenia, Anemia, Splenomegaly, Intrauterine grow... OMIM:606003
Immunodeficiency 47
Decreased circulating antibody level OMIM:300972
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level ORPHA:85317
Ovarian Hyperstimulation Syndrome
Capillary leak, Hypovolemia ORPHA:64739
Retinitis Pigmentosa 51
Pallor OMIM:613464
Congenital Factor Ii Deficiency
Intracranial hemorrhage, Joint hemorrhage, Epistaxis, Anemia ORPHA:325
Schimke Immunoosseous Dysplasia
Lymphopenia, Neutropenia, Hypertension, Thrombocytopenia, Abnormal T cell morphology, Disproporti... OMIM:242900
Wolman Disease
Bone-marrow foam cells, Growth delay, Anemia, Splenomegaly ORPHA:75233
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Agammaglobulinemia 1, Autosomal Recessive
Decreased circulating antibody level, Agammaglobulinemia OMIM:601495
Pseudo-Torch Syndrome 3
Leukocytosis, Congenital thrombocytopenia, Hypertension, Cerebral hemorrhage, Anemia OMIM:618886
Fanconi Anemia, Complementation Group E
Anemic pallor, Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia, Short stat... OMIM:600901
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating antibody level, Decreased circulating IgG level, Decreased circulating IgA ... OMIM:617062
Lambert Syndrome
Decreased circulating antibody level ORPHA:1296
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Polycythemia, Normocytic anemia, Normochromic anemia, Splenomegaly OMIM:222800
Irida Syndrome
Pallor ORPHA:209981
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Extramedullary hematopoiesis, Growth delay, Pancytopenia, Thrombocytopenia, Anemia, S... OMIM:259720
Omenn Syndrome
Severe B lymphocytopenia, Thrombocytopenia, Hypoplasia of the thymus, B lymphocytopenia, Anemia, ... OMIM:603554
Severe Hemophilia A
Joint hemorrhage, Epidural hemorrhage, Gastrointestinal hemorrhage, Intracranial hemorrhage, Subd... ORPHA:169802
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Lymphopenia, Neutropenia, Rhizomelic arm shortening, Reticulocytope... ORPHA:508542
Fanconi Anemia, Complementation Group A
Chromosomal breakage induced by crosslinking agents, Leukemia OMIM:227650
Retinitis Pigmentosa 75
Pallor OMIM:617023
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hemophagocytosis, Anemia, Splenomegaly OMIM:618398
Lymphoproliferative Syndrome 1
Lymphoproliferative disorder, Decreased circulating antibody level, B-cell lymphoma, Hodgkin lymp... OMIM:613011
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Gastrointestinal hemorrhage, Leukocytosis, Hypotension,... ORPHA:98850
Congenital Disorder Of Glycosylation, Type Iir
Decreased circulating antibody level OMIM:301045
Acquired Von Willebrand Syndrome
Hypochromic anemia, Joint hemorrhage, Aortic regurgitation, Gastrointestinal hemorrhage, Intracra... ORPHA:99147
Sepsis In Premature Infants
Purpura, Leukocytosis, Neutropenia, Thrombocytopenia, Petechiae, Anemia, Splenomegaly, Pallor ORPHA:90051
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Fanconi Anemia, Complementation Group C
Anemic pallor, Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia, Short stat... OMIM:227645
Choreoacanthocytosis
Acanthocytosis OMIM:200150
Kenny-Caffey Syndrome, Type 1
Intrauterine growth retardation, Birth length less than 3rd percentile, Anemia, Proportionate sho... OMIM:244460
8P11.2 Deletion Syndrome
Hemolytic anemia, Growth delay, Short stature, Splenomegaly, Spherocytosis ORPHA:251066
Myoclonus, Intractable, Neonatal
Pallor OMIM:617235
Neutrophilic Dermatosis, Acute Febrile
Dilated cardiomyopathy, Small vessel vasculitis, Anemia OMIM:608068
Hydatidiform Mole
Anemia ORPHA:99927
Thymic Tumor
Neuroendocrine neoplasm, Dysgammaglobulinemia, Neoplasm of the thymus ORPHA:100100
Isolated Permanent Neonatal Diabetes Mellitus
Intrauterine growth retardation, Hypovolemia ORPHA:99885
Lig4 Syndrome
Abnormality of chromosome stability, Acute leukemia, Lymphoma ORPHA:99812
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Anemia of inadequate production, Anemia, Splenomegaly OMIM:612714
Autoimmune Lymphoproliferative Syndrome, Type Iii
Lymphoproliferative disorder, Decreased serum complement C3, Increased circulating antibody level... OMIM:615559
Fabry Disease
Arrhythmia, Angina pectoris, Hypertension, Myocardial infarction, Delayed puberty, Congestive hea... OMIM:301500
Fumarase Deficiency
Polycythemia, Pallor OMIM:606812
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Panhypogammaglobulinemia OMIM:601457
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphoproliferative disorder, Lymphoma, Increased circulating IgG level, Decreased lymphocyte pro... ORPHA:276
Icf Syndrome
Abnormality of neutrophils, Lymphopenia, Umbilical hernia, Anemia, Short stature ORPHA:2268
Nephronophthisis 1
Growth delay, Hypertension, Anemia OMIM:256100
Familial Lambdoid Synostosis
Stomatocytosis ORPHA:3267
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Osteopetrosis, Autosomal Recessive 7
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:612301
American Trypanosomiasis
Pallor, Splenomegaly ORPHA:3386
Osteopetrosis, Autosomal Recessive 2
Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Anemia, Hepatosplenomegaly OMIM:259710
Relapsing Fever
Leukocytosis, Hypotension, Epistaxis, Thrombocytopenia, Tachycardia, Anemia, Leukopenia, Neutroph... ORPHA:91547
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Anemia ORPHA:3405
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Anemia ORPHA:514
Non-Functioning Paraganglioma
Pallor ORPHA:94080
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hypotension, Delayed puberty, Hypovolemia ORPHA:168558
Fanconi Anemia, Complementation Group F
Chromosomal breakage induced by crosslinking agents OMIM:603467
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hypotension, Delayed puberty, Hypovolemia ORPHA:289548
Copper Deficiency, Familial Benign
Anemia OMIM:121270
Senior-Loken Syndrome 8
Pallor OMIM:616307
Cowden Syndrome 1
Subcutaneous lipoma, Carcinoma, Decreased circulating antibody level, Meningioma, Fibroadenoma of... OMIM:158350
Hoyeraal-Hreidarsson Syndrome
Thrombocytopenia, Short stature, Anemia, Intrauterine growth retardation, Abnormal leukocyte morp... ORPHA:3322
Immunodeficiency 57 With Autoinflammation
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618108
Waldenstr├Âm Macroglobulinemia
Purpura, Abnormality of neutrophils, Normocytic anemia, Splenomegaly, Leukemia, Pallor ORPHA:33226
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Verrucae ORPHA:275
Riddle Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level ORPHA:420741
Immunodeficiency 52
Decreased circulating antibody level OMIM:617514
Secondary Intestinal Lymphangiectasia
Neoplasm, Decreased circulating antibody level ORPHA:90363
Dravet Syndrome
Pallor ORPHA:33069
Lymphangiectasia, Intestinal
Decreased circulating IgG level OMIM:152800
Nephronophthisis 4
Growth delay, Anemia OMIM:606966
Eosinophilic Gastroenteritis
Leukocytosis, Eosinophilia, Anemia, Hematochezia ORPHA:2070
Mirage Syndrome
Intracranial hemorrhage, Lymphopenia, Patent ductus arteriosus, Thrombocytopenia, Anemia, Leukope... OMIM:617053
Alopecia Antibody Deficiency
Decreased circulating antibody level ORPHA:1006
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating total IgM, Decreased circulating IgA level ORPHA:369837
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Thrombocytopenia, Anemia, Neutropenia, Umbilical hernia OMIM:614520
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase level, Thrombocytosis, Congenital hypoplastic anemia, Neutr... OMIM:105650
Meningioma
Neurofibromas, Intracranial meningioma, Spinal meningioma, Chromosomal breakage induced by ionizi... ORPHA:2495
Ataxia-Telangiectasia
Defective B cell differentiation, Non-Hodgkin lymphoma, Decreased circulating IgG2 level, Lymphom... OMIM:208900
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Thrombocytopenia, Anemia, Pulmonary arterial hypertension, Leukopenia OMIM:613845
Aceruloplasminemia
Anemia OMIM:604290
Immunodeficiency, Common Variable, 12, With Autoimmunity
Decreased circulating antibody level OMIM:616576
Lymphoproliferative Syndrome, X-Linked, 2
Decreased circulating antibody level OMIM:300635
Fanconi Anemia, Complementation Group D2
Chromosomal breakage induced by crosslinking agents, Leukemia OMIM:227646
Wiskott-Aldrich Syndrome
Increased circulating IgE level, Decreased specific anti-polysaccharide antibody level, Abnormal ... OMIM:301000
Gamma-Heavy Chain Disease
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morphology, Thrombo... ORPHA:100026
Reticular Dysgenesis
Decreased circulating antibody level ORPHA:33355
Immunodeficiency 27A
Increased circulating IgG level, Increased circulating IgM level OMIM:209950
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Increased circulating antibody level, Decreased circulating IgG level, Decreased lymphocyte proli... ORPHA:169160
Myopathy, Mitochondrial, And Ataxia
Growth delay, Pallor, Short stature OMIM:617675
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Thrombocytopenia, Ane... OMIM:304790
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia, Thrombocytopenia, Anisocytosis, Leukope... ORPHA:79277
Immunodeficiency 43
Decreased circulating IgG level OMIM:241600
Fanconi Anemia, Complementation Group P
Pancytopenia, Growth delay, Short stature, Anemia OMIM:613951
3-Hydroxy-3-Methylglutaric Aciduria
Thrombocytosis, Leukocytosis, Anemia, Leukopenia, Pallor ORPHA:20
Rheumatic Fever