Not currently registered for phenotyping at IMPC

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

Gene Summary

solute carrier family 20, member 1
Glvr1,  PiT-1,  Glvr-1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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 Slc20a1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Slc20a1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Abnormal bone structure, Persistence of hemoglobin F, Splenomegaly, Pallor ORPHA:46532
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Spherocytosis, Type 5
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... OMIM:612690
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R... OMIM:224120
Hereditary Spherocytosis
Skin ulcer, Anemia, Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corpus... ORPHA:822
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Hepatomegaly, Anemia of inadequate production, Persistence of hemoglo... OMIM:613673
Spherocytosis, Type 4
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Short Fifth Metacarpals-Insulin Resistance Syndrome
Short stature, Spherocytosis, Splenomegaly ORPHA:66518
Spherocytosis, Type 2
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia OMIM:616649
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid... OMIM:237800
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:182900
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies OMIM:140700
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice, Anemia, Reticulocytosis, Methemoglobinemia OMIM:613977
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Reduced erythrocyte adenylate kinase activity, Hemolytic anemia OMIM:612631
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Osteopetrosis, Autosomal Recessive 4
Osteopetrosis, Hepatomegaly, Anemia, Petechiae, Increased bone mineral density, Reticulocytosis, ... OMIM:611490
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Hemolytic anemia, Reticulocytosis OMIM:230450
Spastic Paraplegia And Evans Syndrome
Autoimmune thrombocytopenia, Coombs-positive hemolytic anemia OMIM:601608
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Glutamate-Cysteine Ligase Deficiency
Jaundice, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis ORPHA:33574
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Intrauterine growth retardation, Anemia ORPHA:2802
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Rh Deficiency Syndrome
Jaundice, Macrocytic anemia, Hypochromia, Spherocytosis, Reticulocytosis, Anisocytosis, Hepatospl... ORPHA:71275
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Decreased skull ossification, Short stature, Thrombocytopenia, Abnormal hemoglobin ORPHA:3319
Thrombocytopenia With Beta-Thalassemia, X-Linked
Petechiae, Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thro... OMIM:314050
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co... OMIM:615234
Glutathione Peroxidase Deficiency
Compensated hemolytic anemia, Heinz bodies OMIM:614164
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Reticulocytosis, Short stature, Hepatosplenomegaly, Decreased mean corpuscular volume, P... OMIM:611590
Megaloblastic Anemia, Folate-Responsive
Folate-responsive megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Schistocytosis, E... OMIM:601775
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly OMIM:224100
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Hepatomegaly, Choleli... OMIM:266200
Spherocytosis, Type 3
Spherocytosis, Hemolytic anemia OMIM:270970
Glutathione Synthetase Deficiency
Hemolytic anemia ORPHA:32
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... ORPHA:3203
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Thrombocytopenia, Splenomegaly, Intrauterine growth retardation, Hemolytic anemia OMIM:615010
Acute Myelomonocytic Leukemia
Anemia, Leukocytosis, Thrombocytopenia, Eosinophilia, Pallor ORPHA:517
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol... OMIM:300908
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Purpura, Hyperlipidemia, Reticulocytosis, Thrombocytopenia, Microangiopathic hemolytic anemia, Sc... OMIM:235400
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
X-Linked Sideroblastic Anemia
Pallor, Anemia, Splenomegaly ORPHA:75563
Hemolytic Anemia With Thermal Sensitivity Of Red Cells
Congenital hemolytic anemia OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain
Compensated hemolytic anemia OMIM:142309
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane
Nonspherocytic hemolytic anemia OMIM:206300
Primary Myelofibrosis
Purpura, Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Petechiae, Leukocyt... ORPHA:824
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Skin ulcer, Anemia, Hepatomegaly, Cholelithiasis, Reduced bone mineral density, Thrombocytopenia,... ORPHA:848
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Elliptocytosis, Hemolytic anemia, Microspherocytosis OMIM:266140
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase activity OMIM:618660
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos... ORPHA:846
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic... ORPHA:67044
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis OMIM:603529
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... ORPHA:75564
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia... OMIM:235700
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Hemolytic anemia OMIM:231900
Porphyria, Acute Hepatic
Hemolytic anemia OMIM:612740
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto... OMIM:614470
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... OMIM:194380
Hereditary Elliptocytosis
Postnatal growth retardation, Skin ulcer, Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytos... ORPHA:288
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Anemia, Schistocytosis, Leukopenia, Thrombocytopenia, Lymphopenia, Disproportionate short stature... OMIM:301110
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Hepatomegaly, Reticulocytosis, Prolonged neonatal jaundice, Splenomegaly, Hemolytic anemia OMIM:618892
Reticuloendotheliosis, X-Linked
Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, B lymphocytopenia, Growth delay, Sideroblastic anemia, Splenomegal... OMIM:616084
Thrombotic Thrombocytopenic Purpura, Hereditary
Jaundice, Reticulocytosis, Prolonged neonatal jaundice, Thrombocytopenia, Microangiopathic hemoly... OMIM:274150
Elliptocytosis 1
Jaundice, Elliptocytosis, Splenomegaly, Pallor, Hemolytic anemia OMIM:611804
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Anemia, Myelofibrosis, Thrombocytopenia, Splenomegaly OMIM:617441
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Erythroid hyperplasia,... OMIM:301083
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Breath-Holding Spells
Pallor, Iron deficiency anemia OMIM:607578
Diamond-Blackfan Anemia 13
Normocytic anemia, Elevated red cell adenosine deaminase activity OMIM:615909
Cold Agglutinin Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly, Pallor, Hemolytic anemia ORPHA:56425
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia OMIM:618310
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Hemolytic anemia, Normochromic anemia OMIM:245900
Sitosterolemia 1
Xanthelasma, Chronic hemolytic anemia, Giant platelets, Anemia, Arthritis, Episodic hemolytic ane... OMIM:210250
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja... OMIM:185000
Immunodeficiency 52
Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ... OMIM:617514
Phosphoglycerate Kinase 1 Deficiency
Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis OMIM:300653
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin, Pallor ORPHA:163596
Congenital Atransferrinemia
Arthritis, Anemia, Abnormality of the pancreas ORPHA:1195
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Developmental And Epileptic Encephalopathy 50
Anisopoikilocytosis, Anemia, Acanthocytosis, Schistocytosis OMIM:616457
8P11.2 Deletion Syndrome
Spherocytosis, Short stature, Growth delay, Splenomegaly, Hemolytic anemia ORPHA:251066
Jaundice, Hepatomegaly, Limitation of joint mobility, Thrombocytopenia, Leukopenia, Splenomegaly,... ORPHA:108
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Anemia, Hepatosplenomegaly OMIM:273680
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Thrombocytopenia, Reticulocytosis ORPHA:54057
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Increased mean corpuscular volume, Poikilocytosis, Short stature, Anisocytosis, Pallor, A... ORPHA:98870
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly, Craniofacial hyperostosis, Abnormal cortical bone morphology ORPHA:1802
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Hypochromia, Anemia, Decreased mean corpuscular volume OMIM:205950
Skin ulcer, Anemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Abnormal macrophage morphology, ... ORPHA:507
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Anisocytosis, Hypochromic microcytic anemia OMIM:206200
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Petechiae, Anemia of inadequate production, Poikilocytosis, Acanthocytosis, Congenital thrombocyt... OMIM:300367
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Sickle Cell Anemia
Chronic hemolytic anemia, Jaundice, Iron deficiency anemia, Cholelithiasis, Increased mean corpus... ORPHA:232
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Nephrotic Syndrome, Type 7
Thrombocytopenia, Hemolytic anemia OMIM:615008
Anemia, Splenomegaly, Neutropenia OMIM:602079
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Anemia, Hemophagocytosis, Hepatosplenomegaly, Granulocytopenia OMIM:608898
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia, Hemolytic anemia, Cholelithiasis, Erythema OMIM:177000
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Anemia, Reticulocytopenia, Growth delay, Elevated hepatic iron concentration... ORPHA:300298
Anemia, Sideroblastic, 1
Hypochromic microcytic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production,... OMIM:300751
Rh-Null, Amorph Type
Stomatocytosis, Anisocytosis, Hemolytic anemia, Reticulocytosis OMIM:617970
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Beta-Thalassemia Intermedia
Reduced bone mineral density, Anemia of inadequate production, Splenomegaly, Decreased mean corpu... ORPHA:231222
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Hypersplenism OMIM:610539
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Coombs-posi... OMIM:619375
Elliptocytosis 2
Elliptocytosis, Hemolytic anemia, Reticulocytosis OMIM:130600
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Growth delay, Sideroblastic anemia, Pallor, Hepatomegaly OMIM:613561
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Short... OMIM:607616
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Osteoporosis, Splenomegaly, Abnormal B cell count, Osteolysis ORPHA:100024
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Stomatocytosis, Reticulocytosis, Episodic hemolytic anemia ORPHA:90044
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Glycogen Storage Disease Vii
Jaundice, Cholelithiasis, Reticulocytosis, Gout, Reduced erythrocyte 2,3-diphosphoglycerate conce... OMIM:232800
Anemia ORPHA:655
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Poikilocytosis, Bone marrow hypocellularity, Elliptocytosis, Anisocytosis, Thr... OMIM:300835
Heme Oxygenase 1 Deficiency
Hepatomegaly, Lymphadenopathy, Asplenia, Growth delay, Coombs-positive hemolytic anemia, Thromboc... OMIM:614034
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant... OMIM:601859
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary... OMIM:615285
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy, Erythema, Osteolysis ORPHA:158014
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis ORPHA:713
Chromosome 5Q Deletion Syndrome
Anemia of inadequate production, Erythroid hypoplasia, Refractory macrocytic anemia OMIM:153550
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Pancreatitis, Leukocytosis, Reticulocytosis, Thrombocytopenia, Peritonitis, Microangiopathic hemo... ORPHA:90038
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thrombocytopenia, Pallor, Megaloblastic anemia, Short stature ORPHA:49827
Diamond-Blackfan Anemia 9
Growth delay, Anemia OMIM:613308
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Growth delay, Splenomegaly ORPHA:100025
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Thromboc... OMIM:603552
Hemolytic Anemia, Congenital, X-Linked
Jaundice, Hemolytic anemia OMIM:301015
Purpura, Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Myelofibrosis, Splenomegaly... OMIM:254450
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy... OMIM:618963
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia OMIM:618852
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Acute Peripheral Arterial Occlusion
Pallor, Leukocytosis ORPHA:90064
Stormorken-Sjaastad-Langslet Syndrome
Short stature, Purpura, Anemia, Asplenia ORPHA:3204
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hemolytic anemia OMIM:609153
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Postnatal growth retardation, Anemia, Severe short stature OMIM:618728
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Petechiae, Increased mean platelet volume, Thrombocytopenia, Ecchymosis, Splenomegaly, Stomatocyt... OMIM:153670
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Beta-Thalassemia Major
Delayed puberty, Anemia of inadequate production, Splenomegaly, Decreased mean corpuscular volume... ORPHA:231214
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired... OMIM:613470
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr... OMIM:133100
Sickle Cell Disease
Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells, Splenomeg... OMIM:603903
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Elliptocytosis, Anemia of inadequate production, Hemolytic anemia OMIM:166910
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis OMIM:131400
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Growth delay, Short stature, Neutropenia OMIM:612527
Elliptocytosis 3
Pyropoikilocytosis, Chronic hemolytic anemia, Intermittent jaundice, Elliptocytosis, Decreased me... OMIM:617948
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Petechiae, Ne... OMIM:603909
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Anemia, Hypochromic microcytic anemia, Howell-Jolly bodies, Poikilocytosis, Sideroblastic anemia,... OMIM:301310
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Jaundice, Hepatomegaly, Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Th... OMIM:613839
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly OMIM:615085
Fetal Parvovirus Syndrome
Intrauterine growth retardation, Thrombocytopenia, Anemia, Ascites ORPHA:295
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis OMIM:266120
Systemic Lupus Erythematosus
Arthritis, Thrombocytopenia, Leukopenia, Hemolytic anemia OMIM:152700
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:300448
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Delayed puberty, Growth delay, Hypochromic anemia, Sideroblastic anemia, Microcytic anemia, Joint... OMIM:600462
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Pallor, Splenomegaly ORPHA:90037
Anemia, Autoimmune Hemolytic
Autoimmune hemolytic anemia OMIM:205700
Dominant Beta-Thalassemia
Delayed puberty, Cirrhosis, Skin ulcer, Hypochromic microcytic anemia, Jaundice, Decreased mean c... ORPHA:231226
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis, Hepatomegaly, Anemia, Abnormal lymph node morphology, Petechiae, Leukocytosis, Hep... OMIM:612840
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Hypochromia, Elevated hepatic iron concentration, Decreased mean corpuscular volume, Eryt... OMIM:206100
Letterer-Siwe Disease
Jaundice, Anemia, Thrombocytopenia, Hepatosplenomegaly, Pallor, Neutropenia OMIM:246400
Fanconi Anemia, Complementation Group G
Anemia, Growth delay, Thrombocytopenia, Leukemia, Neutropenia OMIM:614082
Bone Marrow Failure Syndrome 4
Anemia, Rhizomelia, Dry skin, Short stature, Bone marrow hypocellularity, Thrombocytopenia, Leuko... OMIM:618116
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration
Acanthocytosis OMIM:607236
Osteopetrosis, Autosomal Dominant 3
Osteopenia, Hepatomegaly, Anemia, Splenomegaly, Recurrent fractures OMIM:618107
Rh-Null, Regulator Type
Stomatocytosis, Jaundice, Hemolytic anemia OMIM:268150
Evans Syndrome
Autoimmune hemolytic anemia, Jaundice, Petechiae, Neutropenia in presence of anti-neutropil antib... ORPHA:1959
Fibrodysplasia Ossificans Progressiva
Anemia, Limitation of joint mobility, Synostosis of joints, Ectopic ossification in ligament tiss... ORPHA:337
Bone Marrow Failure Syndrome 2
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Neonatal Lupus Erythematosus
Aplastic anemia, Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Abnormality ... ORPHA:398124
Glycoprotein Storage Disease
Splenomegaly, Gout OMIM:232900
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Short stature, Hepatos... OMIM:618935
Majeed Syndrome
Delayed puberty, Anemia of inadequate production, Growth delay, Hepatosplenomegaly, Flexion contr... OMIM:609628
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Anemia, Hemophagocytosis, Lymphadenopathy, Thrombocytopenia, Splenomegaly, ... OMIM:613101
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Schnitzler Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Increased bone mineral density, Arthritis, Leukocytosis, S... ORPHA:37748
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia... OMIM:258900
Aregenerative Anemia
Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,... ORPHA:101096
Paroxysmal Nocturnal Hemoglobinuria 2
Hemolytic anemia OMIM:615399
Acute Erythroid Leukemia
Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Leukopenia ORPHA:318
Ovalocytosis, Southeast Asian
Elliptocytosis, Hemolytic anemia OMIM:166900
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Osteopenia, Steatorrhea, Jaundice, Hepatomegaly, Anemia of inadequate production, Calvarial hyper... OMIM:612714
Kasabach-Merritt Phenomenon
Hepatic hemangioma, Purpura, Anemia, Petechiae, Abnormal lymphatic vessel morphology, Reticulocyt... ORPHA:2330
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ... OMIM:616959
Trichothiodystrophy 6, Nonphotosensitive
Increased bone mineral density, Dry skin, Coronal craniosynostosis, Short stature, Mild intrauter... OMIM:616943
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Jaundice, Hepatomegaly, Short stature, Growth delay, Splenomegaly, Stomatocytosis, Hemolytic anemia OMIM:608885
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis... OMIM:616860
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Thrombocytopenia, Anemia OMIM:616176
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Hepatomegaly, Microvesicular hepatic steatosis, Leukocytosis, Reticuloc... OMIM:618278
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Anemia, Petechiae, Thrombocytopenia, Macrothrombocytopenia OMIM:187800
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Hepatomegaly, Abnormal neutrophil count, Lymphadenopathy, Myeloproliferative diso... ORPHA:3226
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Erythrocytosis, Familial, 4
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:611783
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Lymphadenopathy, Arthritis, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Co... OMIM:304790
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Hemolytic anemia OMIM:612300
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Thrombocytopenia, Monocytosis, Anemia, Neutropenia OMIM:620534
Galactosemia I
Cirrhosis, Hepatomegaly, Reduced erythrocyte galactose-1-phosphate uridylyltransferase activity, ... OMIM:230400
Diamond-Blackfan Anemia 5
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Short stature, Leukopenia OMIM:612528
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
3-Methylglutaconic Aciduria, Type Viia
Anisopoikilocytosis, Anemia, Neutropenia OMIM:619835
Refractory Anemia
Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq... ORPHA:98826
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o... OMIM:619220
Immunodeficiency 114, Folate-Responsive
Hypertriglyceridemia, Postnatal growth retardation, Skin ulcer, Hepatomegaly, Megaloblastic anemi... OMIM:620603
Bone Marrow Failure Syndrome 6
Osteopenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow h... OMIM:618849
Erythrocytosis, Familial, 5
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617907
Ichthyosis, Congenital, Autosomal Recessive 5
White scaling skin, Acanthocytosis OMIM:604777
Glycogen Storage Disease Xii
Delayed puberty, Normocytic anemia, Jaundice, Anemia, Decreased erythrocyte fructose-1,6-bisphosp... OMIM:611881
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Limited pronation/supination of forearm, Thrombocytopenia, Hepatosplenomegaly, Radioulnar... OMIM:616738
Diamond-Blackfan Anemia 12
Reticulocytopenia, Elevated red cell adenosine deaminase activity, Normochromic anemia, Macrocyti... OMIM:615550
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Splenomegaly, Hepatic fibrosis OMIM:613313
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly, Pallor ORPHA:90033
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hemolytic anemia ORPHA:169090
Thrombocytopenia, Anemia ORPHA:673
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, T lymphocytopenia, Growth delay, Thrombocytopenia, Lymphopenia ORPHA:169079
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Hydrops Fetalis, Nonimmune
Anemia OMIM:236750
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Anemia OMIM:610090
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Arthritis, Elbow flexion contracture, Sterile arthritis, Hepatosplenomegaly, Knee f... OMIM:604416
Immunodeficiency 27A
Anemia, Lymphadenopathy, Salmonella osteomyelitis, Leukocytosis, Hepatosplenomegaly, Splenomegaly... OMIM:209950
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl... ORPHA:2585
Intermediate Osteopetrosis
Anemia, Abnormality of bone mineral density, Recurrent fractures, Cortical sclerosis, Hepatosplen... ORPHA:210110
Glycogen Storage Disease Due To Aldolase A Deficiency
Growth delay, Hemolytic anemia ORPHA:57
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Lcat Deficiency
Hypertriglyceridemia, Hemolytic anemia ORPHA:650
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Purpura, Hepatomegaly, Anemia, Petechiae, Splenomegaly OMIM:620296
Acanthocytosis OMIM:200100
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
Transaldolase Deficiency
Cirrhosis, Anemia, Premature skin wrinkling, Thrombocytopenia, Hepatosplenomegaly ORPHA:101028
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Scaling skin, Autoimmune hemolytic anemia, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia,... OMIM:606367
Fanconi Anemia, Complementation Group T
Anemia, Acute myeloid leukemia, Pancytopenia, Short stature, Bone marrow hypocellularity, Thrombo... OMIM:616435
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Growth delay, Megaloblastic anemia OMIM:243320
Chylomicron Retention Disease
Steatorrhea, Acanthocytosis, Growth delay, Hypocholesterolemia, Hepatic steatosis, Increased hepa... ORPHA:71
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Steatorrhea, Acanthocytosis, Hypocholesterolemia OMIM:615558
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Iron deficiency anemia, Hepatosplenomegaly, Cardiomegaly, Pallor ORPHA:99931
Immune Dysregulation, Autoimmunity, And Autoinflammation
Anemia, Petechiae, Ecchymosis, Inguinal lymphadenopathy, Cervical lymphadenopathy OMIM:620514
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit OMIM:609820
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Anemia OMIM:614514
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l... ORPHA:98849
Ollier Disease
Skin ulcer, Anemia, Joint stiffness, Lymphangioma, Osteolysis ORPHA:296
Ziegler-Huang Syndrome
Macrocytic anemia, Persistence of hemoglobin F, Growth delay, Bone marrow hypocellularity, Intrau... OMIM:620501
Wolman Disease
Steatorrhea, Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Growth delay, Splenomegaly ORPHA:75233
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukocytosis, Abnormal me... ORPHA:86839
Isolated Agammaglobulinemia
Skin ulcer, Anemia, Abnormality of the tonsils, Abnormality of the lymphatic system, Abnormal lym... ORPHA:229717
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:300946
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Hepatomegaly, Abnormal natural killer cell count, Decreased proporti... ORPHA:331206
Abnormality of the liver, Hypochromic anemia OMIM:209300
Congenital Toxoplasmosis
Jaundice, Anemia, Hepatomegaly, Lymphadenopathy, Ascites, Thrombocytopenia, Cardiomegaly, Intraut... ORPHA:858
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Hereditary Folate Malabsorption
Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Eosinophilia, Pallor ORPHA:90045
Mixed Connective Tissue Disease
Purpura, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Arthritis, Joint stiffness, ... ORPHA:809
Triosephosphate Isomerase Deficiency
Normocytic anemia, Chronic hemolytic anemia, Jaundice, Normochromic anemia, Macrocytic anemia, Ch... OMIM:615512
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly, Splenomegaly OMIM:619175
Reticular Dysgenesis
Skin ulcer, Anemia, Leukopenia, Aplasia/Hypoplasia of the thymus, Abnormality of neutrophils ORPHA:33355
Mcleod Syndrome
Acanthocytosis, Hepatomegaly, Splenomegaly OMIM:300842
Erythrocytosis, Familial, 7
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617981
Erythrocytosis, Familial, 6
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617980
Intermediate Generalized Junctional Epidermolysis Bullosa
Growth delay, Anemia ORPHA:79402
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Immunodeficiency 115 With Autoinflammation
Postnatal growth retardation, Intestinal lymphangiectasia, Anemia, T lymphocytopenia, Decreased p... OMIM:620632
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Enlarged tonsils, Thrombocyto... OMIM:308230
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog... ORPHA:100026
Ataxia-Pancytopenia Syndrome
Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro... OMIM:159550
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Ascites, Anemia, Splenomegaly ORPHA:1046
Hereditary Cryohydrocytosis With Reduced Stomatin
Postnatal growth retardation, Jaundice, Spontaneous hemolytic crises, Short stature, Hepatospleno... ORPHA:168577
Idiopathic Aplastic Anemia
Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocytopenia, Ecchymosi... ORPHA:88
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612926
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly OMIM:618398
Paroxysmal Cold Hemoglobinuria
Autoimmune hemolytic anemia, Coombs-positive hemolytic anemia ORPHA:90035
Porphyria, Congenital Erythropoietic
Osteopenia, Jaundice, Hepatomegaly, Cholelithiasis, Short stature, Thrombocytopenia, Splenomegaly... OMIM:263700
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Anemia, Acute pancreatitis, Ascites, Dry skin, Portal hypertension, Osteoporosis, H... OMIM:619487
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Potocki-Shaffer Syndrome
Delayed puberty, Anemia, Decreased skull ossification ORPHA:52022
Plummer-Vinson Syndrome
Pallor, Hypochromic microcytic anemia, Iron deficiency anemia ORPHA:54028
Mitochondrial Myopathy And Sideroblastic Anemia
Delayed puberty, Anemia ORPHA:2598
Fetal Cytomegalovirus Syndrome
Jaundice, Anemia, Hepatomegaly, Petechiae, Thrombocytopenia, Splenomegaly, Intrauterine growth re... ORPHA:294
Thrombocytopenia 5
Anemia, Petechiae, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocyto... OMIM:616216
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... ORPHA:86841
Cinca Syndrome
Anemia, Lymphadenopathy, Arthritis, Leukocytosis, Growth delay, Hepatosplenomegaly, Eosinophilia OMIM:607115
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Pallor ORPHA:90036
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia, ... OMIM:608184
Acanthocytosis OMIM:200150
Common Variable Immunodeficiency
Purpura, Lymphadenopathy, Splenomegaly, Lymphopenia, Abnormality of the liver, Autoimmune thrombo... ORPHA:1572
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612924
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Plasmacytosis, Lymphopenia OMIM:247800
Amme Complex
Joint hypermobility, Elliptocytosis, Intrauterine growth retardation OMIM:300194
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Osteomalacia, Iron deficiency anemia, Growth delay ORPHA:89937
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic dyserythropoietic anemia, Macrocytic anemia OMIM:619789
Immunodeficiency 46
Anemia, Intermittent thrombocytopenia, Neutropenia OMIM:616740
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Growth delay, Polycythemia, Methemoglobinemia OMIM:250800
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612925
Immunodeficiency 104
Lymphadenopathy, Hepatomegaly, Splenomegaly, T lymphocytopenia OMIM:608971
Diamond-Blackfan Anemia 20
Anemia, Erythroid hypoplasia OMIM:618313
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Anemia ORPHA:28
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Hepatomegaly, Splenomegaly OMIM:606445
Hypothyroidism, Congenital, Nongoitrous, 6
Growth delay, Anemia, Dry skin OMIM:614450
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Osteopetrosis, Autosomal Recessive 2
Cranial hyperostosis, Osteopetrosis, Anemia, Pancytopenia, Diaphyseal sclerosis, Recurrent fractu... OMIM:259710
Neonatal Severe Primary Hyperparathyroidism
Short stature, Recurrent fractures, Hepatomegaly, Splenomegaly ORPHA:417
Hemochromatosis, Type 3
Purpura, Cirrhosis, Anemia, Arthritis, Lymphopenia, Neutropenia OMIM:604250
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Postnatal growth retardation, Reduced bone mineral density, Hepatomegaly, Joint stiffness, Short ... OMIM:620210
Tufted Angioma
Petechiae, Purpura, Anemia, Thrombocytopenia ORPHA:1063
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Aplastic anemia, Osteopenia, Cirrhosis, Anemia, Mediastinal lymphadenopathy, Pancytopenia, Bone m... OMIM:614742
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Portal hypertension, Splenomegal... OMIM:616278
Lesch-Nyhan Syndrome
Anemia, Gout ORPHA:510
Tempi Syndrome
Polycythemia, Facial erythema, Ascites, Increased hematocrit ORPHA:284227
Myasthenia Gravis
Rheumatoid arthritis, Pure red cell aplasia, Abnormal thymus morphology, Hepatitis, Hemolytic anemia ORPHA:589
Short Stature With Microcephaly And Distinctive Facies
Anisopoikilocytosis, Anemia, Severe short stature, Osteopenia OMIM:615789
Formiminoglutamic Aciduria
Megaloblastic anemia, Anemia ORPHA:51208
Osteopetrosis, Autosomal Recessive 9
Postnatal growth retardation, Osteopetrosis, Anemia, Increased bone mineral density, Cortical scl... OMIM:620366
Arthrogryposis Multiplex Congenita 5
Normocytic anemia, Limitation of knee mobility, Premature skin wrinkling, Elbow flexion contractu... OMIM:618947
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia, Hepatomegaly, Short stature, Splenomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... OMIM:613011
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Growth delay, Splenomegaly, Lymphopenia OMIM:619164
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Anemia ORPHA:371
Ghosal Hematodiaphyseal Dysplasia
Increased bone mineral density, Myelofibrosis, Bone marrow hypocellularity, Thrombocytopenia, Leu... OMIM:231095
Congenital Erythropoietic Porphyria
Osteopenia, Osteoporosis, Reticulocytosis, Poikilocytosis, Anisocytosis, Leukopenia, Splenomegaly... ORPHA:79277
Immunodeficiency 32B
Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, ... OMIM:226990
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Growth delay, Anemic pallor, Anemia ORPHA:329971
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Rickets of the lower limbs ORPHA:882
Asplenia, Isolated Congenital
Howell-Jolly bodies, Thrombocytosis, Asplenia OMIM:271400
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Pancreatitis, Anemia, Thrombocytopenia, Splenomegaly, Neutropenia ORPHA:79312
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Intrauterine grow... OMIM:610333
Amed Syndrome, Digenic
Anemia, Acute myeloid leukemia, Short stature, Bone marrow hypocellularity, Thrombocytopenia, Leu... OMIM:619151
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia, Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Absent circulating... OMIM:620282
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat... OMIM:618534
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Decreased circulating cortisol level, Anemia, Intrauterine growth retardation OMIM:618838
Autoinflammation With Infantile Enterocolitis
Anemia, Pancytopenia, Short stature, Thrombocytopenia, Splenomegaly, Reduced natural killer cell ... OMIM:616050
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Decrease... OMIM:615559
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Monocytosis, Bone marrow hypocellularity, Leukopenia, Refractory anemia OMIM:616871
Fetal Gaucher Disease
Stillbirth, Hepatomegaly, Pancytopenia, Neonatal death, Thrombocytopenia, Abnormality of the sple... ORPHA:85212
Oslam Syndrome
Anemia, Radioulnar synostosis OMIM:165660
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ... OMIM:301078
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Anemia, Intrauterine growth retardation OMIM:620135
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Pearson Marrow-Pancreas Syndrome
Steatorrhea, Hepatomegaly, Refractory sideroblastic anemia, Anemia, Pancytopenia, Reticulocytopen... OMIM:557000
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Growth delay, Short stature, Neutropenia OMIM:612563
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Anemia, Ascites OMIM:603278
Maternal Uniparental Disomy Of Chromosome 4
Postnatal growth retardation, Short stature, Hypocholesterolemia, Abnormal erythrocyte morphology... ORPHA:96180
Fanconi Anemia, Complementation Group V
Anemia, Short stature, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:617243
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia OMIM:600546
Congenital Rubella Syndrome
Jaundice, Anemia, Hepatomegaly, Short stature, Thrombocytopenia, Splenomegaly, Intrauterine growt... ORPHA:290
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Hepatocel... ORPHA:3261
Progressive Familial Intrahepatic Cholestasis
Reduced bone mineral density, Jaundice, Hepatomegaly, Cholestasis, Short stature, Splenomegaly ORPHA:172
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Anemia, Osteoarthritis, Hepatic steatosis OMIM:606069
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Bone cyst, Anemia ORPHA:2668
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Infantile Liver Failure Syndrome 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Macrocytic anemia,... OMIM:615438
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Hepatomegaly, Anemia, Ascites ORPHA:2123
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased CD4:CD8 ratio OMIM:618495
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Short stature, Gout, Intrauterine growth retardation, Neutropenia OMIM:617056
Diamond-Blackfan Anemia 6
Macrocytic anemia, Tracheomalacia, Increased mean corpuscular volume, Persistence of hemoglobin F... OMIM:612561
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Abnormal cortical bone morphology, Increased bone mineral density, Short stature, S... ORPHA:2204
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Pancytopenia, B lymphocytopenia, Increased proportion of effector memory CD8-positive, al... OMIM:619824
Erythrocytosis, Familial, 2
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit OMIM:263400
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Anemia ORPHA:2325
Sepsis In Premature Infants
Purpura, Jaundice, Anemia, Hepatomegaly, Petechiae, Leukocytosis, Thrombocytopenia, Splenomegaly,... ORPHA:90051
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... OMIM:614172
Dohle Bodies And Leukemia
Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies OMIM:223350
Catastrophic Antiphospholipid Syndrome
Skin ulcer, Arthritis, Thrombocytopenia, Coombs-positive hemolytic anemia, Microangiopathic hemol... ORPHA:464343
Aggressive Systemic Mastocytosis
Anemia, Increased proportion of CD25+ mast cells, Lymphadenopathy, Pancytopenia, Osteolysis, Leuk... ORPHA:98850
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Pancreatitis, Anemia, Growth delay, Thrombocytopenia, Neutropenia ORPHA:289916
Osteopenia, Cirrhosis, Hepatomegaly, Anemia, Steatorrhea, Reticulocytosis, Hypocholesterolemia, C... ORPHA:14
Nephronophthisis 9
Postnatal growth retardation, Anemia OMIM:613824
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly OMIM:607685
Senior-Loken Syndrome 4
Anemia OMIM:606996
Cinca Syndrome
Purpura, Hepatomegaly, Anemia, Lymphadenopathy, Reduced bone mineral density, Leukocytosis, Growt... ORPHA:1451
Tafro Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Myelofibrosis, Leukocytosis, Ascites, Thrombocytopenia, Sp... ORPHA:457077
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:620481
Classic Mycosis Fungoides
Skin ulcer, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Dry skin, Splenomegaly... ORPHA:2584
Immunodeficiency 7
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut... OMIM:615387
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abnormal CD4:CD8... OMIM:150550
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Short stature, Thrombocytopenia, Splenomegaly OMIM:231000
Paternal Uniparental Disomy Of Chromosome 1
Delayed puberty, Enlarged kidney, Episodic hemolytic anemia, Short stature, Craniosynostosis, Rec... ORPHA:251004
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Hepatocellu... ORPHA:158057
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Petechiae, Hepatocellular carcinoma, Ascites, Portal hypertension, Thrombocytopenia... OMIM:619463
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Hepatomegaly, Mediastinal lymphadenopathy, Petechiae, Thrombocytopenia, S... ORPHA:158029
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Osteoporo... OMIM:257200
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Osteopetrosis, Anemia, Diaphyseal sclerosis, Short stature, Hepatosplenomeg... OMIM:259730
Familial Benign Copper Deficiency
Short stature, Anemia ORPHA:1551
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Postnatal growth retardation, Hepatomegaly, Delayed epiphyseal ossification, Leukocytosi... ORPHA:289157
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Short stature, Limitation of joint mobility, Anemia ORPHA:1192
Anti-Glomerular Basement Membrane Disease
Arthritis, Purpura, Anemia ORPHA:375
Immunodeficiency 23
Erythema, Lymphopenia, Joint hypermobility, Eosinophilia, Hemolytic anemia, Neutropenia OMIM:615816
Congenital Bile Acid Synthesis Defect Type 2
Rickets, Postnatal growth retardation, Steatorrhea, Jaundice, Giant cell hepatitis, Hepatomegaly,... ORPHA:79303
Skin ulcer, Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutrop... ORPHA:443811
Waldenström Macroglobulinemia
Normocytic anemia, Purpura, Hepatomegaly, Lymphadenopathy, Splenomegaly, Pallor, Abnormality of n... ORPHA:33226
Gaucher Disease Type 1
Delayed puberty, Ascites, Leukopenia, Splenomegaly, Pathologic fracture, Osteolysis, Pancytopenia... ORPHA:77259
Pearson Syndrome
Postnatal growth retardation, Steatorrhea, Hepatomegaly, Anemia, Pancytopenia, Reticulocytosis, G... ORPHA:699
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Short stature, Craniosynostosis, Anemia, Recurrent fractures ORPHA:436
Osteopetrosis, Autosomal Recessive 1
Femur fracture, Osteopetrosis, Hepatomegaly, Anemia, Calvarial osteosclerosis, Pancytopenia, Incr... OMIM:259700
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Flexion contracture, Er... OMIM:619183
Orthostatic Hypotension 2
Anemia OMIM:618182
Galactose Epimerase Deficiency
Growth delay, Jaundice, Splenomegaly, Hepatomegaly ORPHA:79238
Cholesteryl Ester Storage Disease
Increased circulating lactate dehydrogenase concentration, Leukopenia, Splenomegaly, Acute hepati... OMIM:278000
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hypertriglyceridemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly... OMIM:300635
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
C1Q Deficiency 2
Arthritis, Facial erythema, Anemia OMIM:620321
Chronic Bilirubin Encephalopathy
Prolonged neonatal jaundice, Hemolytic anemia ORPHA:529808
Acute Bilirubin Encephalopathy
Prolonged neonatal jaundice, Hemolytic anemia ORPHA:529799
Immunodeficiency 48
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ... OMIM:269840
Combined Oxidative Phosphorylation Deficiency 40
Intrauterine growth retardation, Neonatal death, Anemia, Decreased circulating cortisol level OMIM:618835
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Flexion contracture, HbH hemoglobin, Microcytic anemia, Short stature ORPHA:98791
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4-positive helper T cells... OMIM:300853
Combined Oxidative Phosphorylation Deficiency 42
Intrauterine growth retardation, Neonatal death, Anemia, Decreased circulating cortisol level OMIM:618839
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, An... OMIM:617780
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Dry skin, Sp... ORPHA:39041
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Joint contracture, Flexion contracture, Splenomegaly, Intrauterine growth retardation OMIM:608540
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Rickets, Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis ... OMIM:211600
Prolidase Deficiency
Skin ulcer, Anemia, Hepatomegaly, Petechiae, Prolonged neonatal jaundice, Thrombocytopenia, Splen... OMIM:170100
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Anemia, Periportal fibrosis, Hepatocellular carci... ORPHA:64743
Muckle-Wells Syndrome
Delayed puberty, Hepatomegaly, Anemia, Arthritis, Short stature, Camptodactyly of finger, Splenom... ORPHA:575
Griscelli Syndrome Type 2
Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Petechiae, Hyperlipidemi... ORPHA:79477
Fanconi Anemia, Complementation Group E
Anemia, Pancytopenia, Anemic pallor, Reticulocytopenia, Short stature, Thrombocytopenia, Leukemia... OMIM:600901
Albers-Schönberg Osteopetrosis
Anemia, Abnormal leukocyte morphology, Arthritis, Recurrent fractures, Short stature, Osteoarthri... ORPHA:53
Essential Thrombocythemia
Acute leukemia, Leukocytosis, Abnormal platelet morphology, Splenomegaly, Thrombocytosis ORPHA:3318
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Gaucher Disease, Type I
Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Pathologic fracture, Hyperspl... OMIM:230800
Wilson Disease
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Acute hepatitis, Arthritis, Hepatitis, Thrombocytopeni... ORPHA:905
Wiskott-Aldrich Syndrome
Acute leukemia, Purpura, Skin ulcer, Anemia, Petechiae, Abnormal eosinophil morphology, Hyperosto... ORPHA:906
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Short stature, Anemia OMIM:226670
Macrophage Activation Syndrome
Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,... ORPHA:158061
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Short stature, Pallor, Osteoporosis ORPHA:2786
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy, Arthritis, Lymphopenia, Ascites, Thrombocytopenia, Leukopenia, Microangiopathic ... ORPHA:93552
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Abnormal lymph node morphology, Anemia, Abnormality of the lymphatic system, Neutr... ORPHA:54251
Fanconi Anemia, Complementation Group C
Anemia, Pancytopenia, Anemic pallor, Reticulocytopenia, Short stature, Bone marrow hypocellularit... OMIM:227645
Atelis Syndrome 1
Anemia, Thrombocytopenia, Leukopenia, Dry skin OMIM:620184
Coach Syndrome 3
Portal fibrosis, Anemia OMIM:619113
Felty Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Arthritis, Abnormal lymphocyte morphology, Limitation of j... ORPHA:47612
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Anemia, Lymphadenopathy, Anemic pallor, Abdominal mass, Thrombocytopenia, Pathologic fracture ORPHA:635
Shwachman-Diamond Syndrome 1
Steatorrhea, Hepatomegaly, Anemia, Acute myeloid leukemia, Pancytopenia, Irregular ossification a... OMIM:260400
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Pancreatitis, Anemia, Macrocytic anemia, Thrombocytopenia, Leukopenia ORPHA:27
Indolent Systemic Mastocytosis
Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Osteoporosis, Mastocytos... ORPHA:98848
Dermotrichic Syndrome
Anemia, Proportionate short stature ORPHA:99688
Rhabdoid Tumor
Thrombocytopenia, Neoplasm of the liver, Anemia, Lymphadenopathy ORPHA:69077
Bone Marrow Failure Syndrome 5
Anemia, Erythroid hypoplasia, Short stature, Pure red cell aplasia, Growth delay OMIM:618165
Autosomal Recessive Malignant Osteopetrosis
Osteopetrosis, Hepatomegaly, Anemia, Lymphadenopathy, Reduced bone mineral density, Growth delay,... ORPHA:667
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hepatomegaly, Cholestasis, Short stature, Splenomegaly OMIM:620010
Hellp Syndrome
Decreased mean corpuscular hemoglobin concentration, Thrombocytopenia, Hemolytic anemia, Microang... ORPHA:244242
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Short stature, Abnormal reticulocyte morphology, Fused cervical vertebrae ORPHA:2522
Fanconi Anemia, Complementation Group A
Anemia, Pancytopenia, Anemic pallor, Reticulocytopenia, Short stature, Thrombocytopenia, Leukemia... OMIM:227650
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Macrocytic anemia OMIM:619046
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly ORPHA:66661
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Joint hypermobility, Persistence of hemoglobin F, Short stature OMIM:617101
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp... OMIM:603554
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia, Hepatomegaly, Anemia, Lymphadenopathy, Arthritis, Thrombocytopenia, Splenom... OMIM:617591
Majeed Syndrome
Hepatomegaly, Hypochromic microcytic anemia, Increased bone mineral density, Leukocytosis, Synovi... ORPHA:77297
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Steatorrhea, Hypochromic microcytic anemia, Anemia, Severe postnatal g... ORPHA:440713
X-Linked Agammaglobulinemia
Skin ulcer, Anemia, Abnormality of the tonsils, Abnormality of the lymphatic system, Arthritis, S... ORPHA:47
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Short stature, Splenomegaly, Acholic stools, Hypercholes... OMIM:619868
Specific Granule Deficiency 2
Osteopenia, Anemia, Thrombocytopenia, Absent neutrophil specific granules, Neutropenia OMIM:617475
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Hepatomegaly, Osteoporosis, Biliary tract abnormality, Splenomegaly, Neonata... ORPHA:79301
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Hepatomegaly, Splenomegaly OMIM:619462
Celiac Disease, Susceptibility To, 1
Rickets, Delayed puberty, Steatorrhea, Postnatal growth retardation, Iron deficiency anemia, Macr... OMIM:212750
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Transcobalamin Ii Deficiency
Hepatomegaly, Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Reticulocytopenia, N... OMIM:275350
Immunodeficiency 54
Postnatal growth retardation, Hepatomegaly, Lymphadenopathy, Short stature, Splenomegaly, Intraut... OMIM:609981
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Giant cell hepatitis, Steat... OMIM:607765
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Anemia, Pancytopenia, Arthritis, Hepatitis, Thrombocytopenia, Splenomegaly, Intraut... OMIM:615846
Hepatoerythropoietic Porphyria
Osteopenia, Osteoporosis, Splenomegaly, Osteolysis, Erythroid hyperplasia, Hemolytic anemia ORPHA:95159
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia, Pyoderma gangrenosum OMIM:616576
Immunodeficiency 102
Hepatomegaly, Anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, De... OMIM:301082
Proteus Syndrome
Calvarial hyperostosis, Mandibular hyperostosis, Lymphangioma, Facial hyperostosis, Splenomegaly,... OMIM:176920
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly, Arthritis OMIM:611762
American Trypanosomiasis
Lymphadenopathy, Pallor, Hepatomegaly, Splenomegaly ORPHA:3386
Anisopoikilocytosis, Intrahepatic cholestasis, Hepatomegaly, Thrombocytopenia, Abnormal platelet ... ORPHA:46059
Transaldolase Deficiency
Cirrhosis, Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly... OMIM:606003
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD8-positive T cells, ... OMIM:619802
Bone Dysplasia, Lethal Holmgren Type
Redundant neck skin, Hepatomegaly, Anemia, Rhizomelia, Severe short-limb dwarfism, Joint hypermob... ORPHA:1842
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Anemia, B lymphocytopenia, Reticulocytopenia, Dry skin, Rhizomelic arm shortening, Short stature,... ORPHA:508542
Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Leukocytosis, Thr... ORPHA:3392
Pseudo-Torch Syndrome 3
Anemia, Lymphadenitis, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia OMIM:618886
Hoyeraal-Hreidarsson Syndrome
Excessive wrinkled skin, Anemia, Abnormal leukocyte morphology, Short stature, Bone marrow hypoce... ORPHA:3322
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor, Hepatomegaly, Anemia OMIM:246450
Anisopoikilocytosis, Bilobate gallbladder, Intrahepatic cholestasis, Osteoporosis, Hepatic fibrosis OMIM:607330
Stormorken Syndrome