Gene Summary

transferrin receptor
Trfr,  TfR1,  CD71,  2610028K12Rik,  E430033M20Rik,  Mtvr-1,  p90,  Mtvr1

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Tfrcem1(IMPC)H HOM   Early adult 0.00
decreased hemoglobin content Tfrcem1(IMPC)H HET Early adult 1.66×10-05
abnormal gait Tfrcem1(IMPC)H HET Early adult 3.91×10-05
decreased mean corpuscular hemoglobin Tfrcem1(IMPC)H HET Early adult 3.89×10-23
increased red blood cell distribution width Tfrcem1(IMPC)H HET Early adult 1.67×10-09
embryonic lethality prior to tooth bud stage Tfrcem1(IMPC)H HOM   E12.5 0.00
increased erythrocyte cell number Tfrcem1(IMPC)H HET Early adult 3.64×10-13
increased large unstained cell number Tfrcem1(IMPC)H HET Early adult 7.90×10-05
abnormal vocalization Tfrcem1(IMPC)H HET Early adult 3.06×10-06
decreased mean corpuscular hemoglobin concentration Tfrcem1(IMPC)H HET   Early adult 3.20×10-05
decreased mean corpuscular volume Tfrcem1(IMPC)H HET Early adult 6.40×10-25

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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 Tfrc 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 Tfrc by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Immunodeficiency 46
Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740

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

Disease Similarity of
Matching phenotypes Source
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Sideroblastic anemia OMIM:182170
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... OMIM:205950
Diamond-Blackfan Anemia 13
Normocytic anemia OMIM:615909
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... OMIM:206100
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Iron-Refractory Iron Deficiency Anemia
Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso... OMIM:206200
Hemochromatosis, Type 5
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... OMIM:615517
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Protoporphyria, Erythropoietic, 2
Iron deficiency anemia, Increased erythrocyte protoporphyrin concentration OMIM:618015
Chromosome 5Q Deletion Syndrome
Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia OMIM:153550
Anemia, Sideroblastic, 1
Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ... OMIM:300751
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenom... OMIM:616860
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... OMIM:615234
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Splenomegaly, Abnormality of iron homeostasis, Anemia ORPHA:75563
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... OMIM:615631
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Fetal Parvovirus Syndrome
Increased nuchal translucency, Hydrops fetalis, Anemia, Intrauterine growth retardation, Hypertro... ORPHA:295
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Increased circulating ferritin concent... OMIM:613313
Hypochromic anemia, Atransferrinemia OMIM:209300
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Reticulocytosis, Anemia of inadequate production, Erythroid hyperplasia OMIM:237800
Fetal Cytomegalovirus Syndrome
Splenomegaly, Anemia ORPHA:294
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia OMIM:243320
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Increased circulating ferritin concentration, Anisopoikilocytosis,... ORPHA:300298
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Iron Overload, Susceptibility To
Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat... OMIM:620121
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... ORPHA:86841
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... ORPHA:232
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic anemia, Macrocytic dyserythropoietic anemia OMIM:619789
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... OMIM:616278
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Autoinflammation With Episodic Fever And Lymphadenopathy
Splenomegaly, Microcytic anemia OMIM:618852
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia OMIM:140700
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia ORPHA:2802
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Anemia, Abnormalit... ORPHA:848
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... ORPHA:254704
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Majeed Syndrome
Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:609628
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Pernicious Anemia
Megaloblastic anemia OMIM:170900
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis, Anemia OMIM:236750
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased m... ORPHA:98870
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... OMIM:261000
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Hb Bart'S Hydrops Fetalis
Pericarditis, Abnormal hemoglobin, Polyhydramnios, Splenomegaly, Hydrocephalus, Hydrops fetalis, ... ORPHA:163596
Hemochromatosis, Type 3
Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin... OMIM:604250
Anemia, Congenital Dyserythropoietic, Type Ii
Splenomegaly, Reticulocytosis, Anemia of inadequate production OMIM:224100
Hypermanganesemia With Dystonia 1
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa... OMIM:613280
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ... ORPHA:231222
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Hepatosplenomegaly, Pancytopenia, Thrombocytosis, Microcytic anemia OMIM:604416
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Sideroblastic anemia, Hypochromic microcytic anemia OMIM:301310
Anemia ORPHA:655
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S... OMIM:224120
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Imerslund-Grasbeck Syndrome 2
Megaloblastic anemia OMIM:618882
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia OMIM:619398
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis, Fetal pericardial effusion, Fetal p... OMIM:619462
Hemochromatosis, Type 4
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Cirr... OMIM:606069
Spastic Paraplegia And Evans Syndrome
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia OMIM:601608
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Lymphadenopathy, Abnormal proport... OMIM:212050
Breath-Holding Spells
Iron deficiency anemia OMIM:607578
Diamond-Blackfan Anemia 12
Macrocytic anemia, Reticulocytopenia, Normochromic anemia OMIM:615550
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Increased ser... OMIM:231100
Glutathione Peroxidase Deficiency
Heinz bodies, Compensated hemolytic anemia OMIM:614164
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly OMIM:312500
Protoporphyria, Erythropoietic, X-Linked
Iron deficiency anemia, Increased erythrocyte protoporphyrin concentration OMIM:300752
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Gracile Syndrome
Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce... ORPHA:53693
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Mitochondrial Dna Depletion Syndrome 18
Microcytic anemia OMIM:618811
Blue Rubber Bleb Nevus
Microcytic anemia ORPHA:1059
Autosomal Erythropoietic Protoporphyria
Microcytic anemia ORPHA:79278
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias OMIM:620044
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Gracile Syndrome
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron, Cho... OMIM:603358
Glutamate Formiminotransferase Deficiency
Hypersegmentation of neutrophil nuclei, Megaloblastic anemia OMIM:229100
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia OMIM:612527
Diffuse Neonatal Hemangiomatosis
Premature birth, Polyhydramnios, Patent ductus arteriosus, Hydrops fetalis, Anemia, Ascites, Thro... ORPHA:2123
Congenital Heart Block
Cyanosis, Premature birth, Pericardial effusion, Patent ductus arteriosus, Hydrops fetalis, Perip... ORPHA:60041
Orotic Aciduria
Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... OMIM:258900
Congenital Atransferrinemia
Anemia ORPHA:1195
Pulmonary Hemosiderosis
Iron deficiency anemia OMIM:178550
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... ORPHA:75564
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... OMIM:300908
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane
Nonspherocytic hemolytic anemia OMIM:206300
Adenosine Triphosphatase Deficiency, Anemia Due To
Nonspherocytic hemolytic anemia OMIM:102800
Hemolytic Anemia With Thermal Sensitivity Of Red Cells
Congenital hemolytic anemia OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain
Compensated hemolytic anemia OMIM:142309
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Familial Pseudohyperkalemia
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume ORPHA:90044
Neonatal Hemochromatosis
Congenital hepatic fibrosis, Increased serum iron, Increased circulating ferritin concentration, ... ORPHA:446
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis OMIM:300367
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:263400
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Hjv Or Hamp-Related Hemochromatosis
Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated transferrin saturation, Incr... ORPHA:79230
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Transaldolase Deficiency
Edema, Hydrops fetalis, Hepatosplenomegaly, Anemia, Biventricular hypertrophy, Atrial septal defe... ORPHA:101028
Decreased serum iron, Aceruloplasminemia, Increased circulating ferritin concentration, Anemia OMIM:604290
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra... ORPHA:139507
Formiminoglutamic Aciduria
Anemia, Megaloblastic anemia ORPHA:51208
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice OMIM:179700
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Normochromic anemia OMIM:245900
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Hypochromic anemia, Microcytic anemia OMIM:618451
Nuchal Bleb, Familial
Stillbirth, Fetal cystic hygroma, Hydrops fetalis OMIM:257350
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Hep... ORPHA:101330
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia OMIM:618805
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
Mitochondrial Dna Depletion Syndrome 19
Microcytic anemia OMIM:618972
Copper Deficiency, Familial Benign
Decreased circulating copper concentration, Anemia OMIM:121270
Combined Oxidative Phosphorylation Deficiency 14
Copper accumulation in liver, Anemia, Elevated hepatic iron concentration, Increased hepatic glyc... OMIM:614946
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... OMIM:612690
Dermatitis Herpetiformis
Microcytic anemia ORPHA:1656
Glutathione Synthetase Deficiency
Hemolytic anemia ORPHA:32
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia OMIM:133180
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... ORPHA:71275
Diamond-Blackfan Anemia 5
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Leukopenia OMIM:612528
Acute Erythroid Leukemia
Anemia, Erythroid hypoplasia, Pancytopenia, Leukopenia ORPHA:318
Microcytic anemia ORPHA:926
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Nonspherocytic hemolytic a... OMIM:235700
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Hypochromic anemia, Erythroid hyper... OMIM:600462
Refractory anemia, Decreased circulating ceruloplasmin concentration, Decreased circulating coppe... ORPHA:48818
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Nonimmune hydrops fetalis, ... OMIM:617021
Pericardial effusion, Ascites, Bone-marrow foam cells OMIM:256150
Familial Benign Copper Deficiency
Decreased circulating copper concentration, Anemia ORPHA:1551
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy... OMIM:617780
Congenital Pulmonary Lymphangiectasia
Cyanosis, Splenomegaly, Hydrops fetalis, Chylopericardium, Growth delay, Pulmonic stenosis, Pleur... ORPHA:2414
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia OMIM:616959
Thrombocythemia 2
Thrombocytosis OMIM:601977
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:230450
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Abcd Syndrome
Polycythemia OMIM:600501
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Nonimmune hydrops fetalis, Reduced red cell ... OMIM:266200
Hemochromatosis, Type 2A
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Increased serum iron, C... OMIM:602390
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Anemia OMIM:618313
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly OMIM:273680
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia ORPHA:517
Bleeding Disorder, Platelet-Type, 19
Thrombocytopenia, Macrothrombocytopenia, Anemia OMIM:616176
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Single umbilical artery, Abnormal tri... ORPHA:3405
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:598500
Glutamate-Cysteine Ligase Deficiency
Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis ORPHA:33574
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Beta-Thalassemia Major
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:231214
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Microcytic anemia OMIM:619013
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Anemia OMIM:615715
Plummer-Vinson Syndrome
Iron deficiency anemia, Decreased circulating ferritin concentration, Hypochromic microcytic anemia ORPHA:54028
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... ORPHA:398063
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly OMIM:608898
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... ORPHA:309854
Splenomegaly, Anemia, Neutropenia OMIM:602079
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Reticulocytosis OMIM:130600
Vascular Malformation, Primary Intraosseous
Hypochromic anemia OMIM:606893
Achondrogenesis, Type Ib
Polyhydramnios, Edema, Breech presentation, Hydrops fetalis, Stillbirth, Umbilical hernia, Neonat... OMIM:600972
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Short stature, Hydrops fetalis, Polyhydramnios ORPHA:2204
Phosphoglycerate Dehydrogenase Deficiency
Thrombocytopenia, Megaloblastic anemia OMIM:601815
Idiopathic Copper-Associated Cirrhosis
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre... ORPHA:209919
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Wt Limb-Blood Syndrome
Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia OMIM:194350
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Hydrops fetalis, Nonimmune hydrops fetalis, Polyhydramnios OMIM:613124
Congenital Enterovirus Infection
Decreased fetal movement, Abnormal macrophage morphology, Premature birth, Polyhydramnios, Fetal ... ORPHA:292
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Diarrhea,... OMIM:618963
Anemia, Congenital Dyserythropoietic, Type Iiia
Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemia OMIM:105600
Spherocytosis, Type 4
Splenomegaly, Hemolytic anemia, Spherocytosis, Reticulocytosis OMIM:612653
Indomethacin Embryofetopathy
Ventricular septal defect, Premature birth, Hydrops fetalis, Cardiomyopathy, Atrial septal defect... ORPHA:1909
Congenital Disorder Of Glycosylation, Type Ik
Nonimmune hydrops fetalis, Splenomegaly, Cardiomyopathy, Abnormality of the amniotic fluid, Intra... OMIM:608540
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Microcytic anemia OMIM:619750
Imerslund-Grasbeck Syndrome 1
Megaloblastic anemia OMIM:261100
Bleeding Disorder, Platelet-Type, 16
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Thrombocytopenia OMIM:187800
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Increased circulating ferritin con... OMIM:618892
Sialidosis Type 2
Short stature, Splenomegaly, Hydrops fetalis, Pedal edema, Umbilical hernia, Ascites ORPHA:87876
Combined Oxidative Phosphorylation Deficiency 41
Premature birth, Nonimmune hydrops fetalis, Cardiomegaly, Intrauterine growth retardation, Anemia OMIM:618838
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis OMIM:616649
Niemann-Pick Disease, Type A
Splenomegaly, Sea-blue histiocytosis, Bone-marrow foam cells, Microcytic anemia OMIM:257200
Megaloblastic Anemia, Folate-Responsive
Episodic hemolytic anemia, Schistocytosis, Folate-responsive megaloblastic anemia, Hypersegmentat... OMIM:601775
Thrombocythemia 3
Thrombocytosis OMIM:614521
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrops fetalis, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia OMIM:616738
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Ataxia, Splenomegaly, Choreoathetosis OMIM:612126
Microcytic anemia ORPHA:324737
Congenital Disorder Of Glycosylation, Type Iq
Microcytic anemia OMIM:612379
Infantile Sialic Acid Storage Disease
Premature birth, Cardiomegaly, Splenomegaly, Hydrocephalus, Vacuolated lymphocytes, Hydrops fetal... OMIM:269920
Premature birth, Edema, Hydrops fetalis, Cutis laxa, Anemia, Intrauterine growth retardation, Pre... ORPHA:79325
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia OMIM:618660
Hydrops Fetalis
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph... ORPHA:1041
Mitochondrial Complex I Deficiency, Nuclear Type 35
Redundant neck skin, Nonimmune hydrops fetalis, Cardiomyopathy, Neonatal death, Intrauterine grow... OMIM:619003
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... OMIM:182900
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Anemia, Neutropenia OMIM:614082
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis OMIM:604273
3-Methylglutaconic Aciduria, Type V
Normochromic microcytic anemia OMIM:610198
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial effusion, Spl... OMIM:613011
Klippel-Trénaunay Syndrome
Edema, Microcytic anemia, Patent ductus arteriosus, Hydrops fetalis, Abnormal tricuspid valve mor... ORPHA:90308
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... OMIM:614470
Combined Oxidative Phosphorylation Deficiency 40
Premature birth, Nonimmune hydrops fetalis, Neonatal death, Intrauterine growth retardation, Hype... OMIM:618835
Folate Malabsorption, Hereditary
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:229050
Combined Oxidative Phosphorylation Deficiency 42
Premature birth, Nonimmune hydrops fetalis, Cardiomyopathy, Neonatal death, Intrauterine growth r... OMIM:618839
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Short stature, Megaloblastic anemia, Pallor, Atrial septal defect, Thr... ORPHA:49827
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy, Intrauterine growth retardation,... OMIM:614702
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia ORPHA:2494
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Nonimmune hydrops fetalis, Pericardia... OMIM:619313
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Postnatal growt... ORPHA:288
Drug-Induced Lupus Erythematosus
Pericarditis, Petechiae, Pericardial effusion, Anemia, Thrombocytopenia ORPHA:231111
Fetal Gaucher Disease
Decreased fetal movement, Pancytopenia, Fetal akinesia sequence, Splenomegaly, Abnormality of the... ORPHA:85212
Combined Oxidative Phosphorylation Deficiency 53
Hypochromic microcytic anemia, Elevated circulating C-reactive protein concentration OMIM:619423
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Growth delay, Sideroblastic anemia, Hypertrophic cardiomyopathy, Pallor OMIM:613561
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Immunodeficiency 89 And Autoimmunity
Decreased eosinophil count, Hypochromic microcytic anemia, Elevated circulating C-reactive protei... OMIM:619632
Infantile Liver Failure Syndrome 1
Macrocytic anemia, Anemia OMIM:615438
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia OMIM:613839
Thickened nuchal skin fold, Severe short stature, Polyhydramnios, Hydrops fetalis, Umbilical hernia ORPHA:932
Orthostatic Hypotension 2
Anemia OMIM:618182
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia OMIM:615285
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Increased serum pyruvate, Hyperalaninemia, Hypochromic microcytic anemia, Anemia OMIM:619147
Achondrogenesis Type 1B
Thickened nuchal skin fold, Severe short stature, Polyhydramnios, Disproportionate short stature,... ORPHA:93298
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Lymphocytosis OMIM:606445
Neuraminidase Deficiency
Short stature, Bone-marrow foam cells, Cardiomegaly, Facial edema, Splenomegaly, Vacuolated lymph... OMIM:256550
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Hypochromic microcytic anemia, Thrombocytopenia ORPHA:3240
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Microcytic anemia OMIM:612073
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Normocytic anemia, Megaloblastic anemia OMIM:236270
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Anemia ORPHA:371
Phosphoglycerate Kinase 1 Deficiency
Erythroid hyperplasia, Hemolytic anemia, Ataxia, Reticulocytosis OMIM:300653
Acute Peripheral Arterial Occlusion
Leukocytosis, Pallor ORPHA:90064
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Megaloblastic anemia OMIM:250940
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Lymphatic Malformation 12
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Fetal pericardial effusion,... OMIM:620014
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Mulibrey Nanism
Short stature, Cardiomegaly, Myocardial fibrosis, Hydrops fetalis, Growth delay, Pericardial cons... OMIM:253250
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Chondrodysplasia, Blomstrand Type
Premature birth, Fetal ascites, Polyhydramnios, Hydrops fetalis, Stillbirth OMIM:215045
Combined Oxidative Phosphorylation Deficiency 18
Macrocytic anemia, Hypersegmentation of neutrophil nuclei OMIM:615578
Dohle Bodies And Leukemia
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia OMIM:223350
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis OMIM:619340
Pancreatic Colipase Deficiency
Megaloblastic anemia ORPHA:309108
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased circulating ferritin concentrati... OMIM:194380
Glycogen Storage Disease Iv
Decreased fetal movement, Polyhydramnios, Edema, Hydrops fetalis, Hepatosplenomegaly, Cardiomyopa... OMIM:232500
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Normochromic anemi... OMIM:618775
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Pericardial effusion, Anhydramnios OMIM:613885
Vitamin B12-Unresponsive Methylmalonic Acidemia
Thrombocytopenia, Leukopenia, Macrocytic anemia, Anemia ORPHA:27
Achondrogenesis Type 1A
Thickened nuchal skin fold, Severe short stature, Polyhydramnios, Hydrops fetalis, Umbilical hernia ORPHA:93299
Symptomatic Form Of Hfe-Related Hemochromatosis
Cholangiocarcinoma, Hepatomegaly, Portal hypertension, Hepatocellular carcinoma, Splenomegaly, In... ORPHA:465508
Trichohepatoenteric Syndrome 2
Hepatomegaly, Decreased serum iron, Diarrhea, Chronic diarrhea, Bloody diarrhea, Chronic hepatiti... OMIM:614602
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Splenomegaly, Anemia of inadequate production OMIM:612714
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Abnormal erythrocyte morphology, Folate-unresponsive megaloblastic anemia, Megaloblastic anemia ORPHA:2575
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis OMIM:266140
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytopenia OMIM:616084
Free Sialic Acid Storage Disease
Splenomegaly, Ascites, Hydrops fetalis, Skin ulcer ORPHA:834
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Cardiomyopathy, Familial Restrictive, 6
Restrictive cardiomyopathy, Ascites, Hydrops fetalis, Pulmonic stenosis OMIM:619433
Jervell And Lange-Nielsen Syndrome
Iron deficiency anemia ORPHA:90647
Congenital Disorder Of Glycosylation, Type Il
Decreased fetal movement, Edema, Pericardial effusion, Hepatosplenomegaly, Abnormal cardiac septu... OMIM:608776
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Thrombocytopenia OMIM:249270
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hydrops fetalis, Fetal akinesia sequence OMIM:618815
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hypochr... OMIM:259720
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ... ORPHA:86839
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Increased circulating ferritin concent... OMIM:235200
Majeed Syndrome
Splenomegaly, Leukocytosis, Hypochromic microcytic anemia, Congenital hypoplastic anemia ORPHA:77297
Primary Intestinal Lymphangiectasia
Edema, Pericardial effusion, Growth delay, Ascites, Decreased proportion of CD3-positive T cells,... ORPHA:90362
Gaucher Disease Type 1
Pancytopenia, Hypersplenism, Splenomegaly, Pericardial effusion, Pedal edema, Anemia, Leukopenia,... ORPHA:77259
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Neutropenia, Microcytic anemia OMIM:251900
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Anemia OMIM:614514
Cantu Syndrome
Bicuspid aortic valve, Lymphedema, Pericardial effusion, Cardiomegaly, Patent ductus arteriosus, ... OMIM:239850
Dilated Cardiomyopathy With Ataxia
Normochromic microcytic anemia, Elevated circulating glutaric acid concentration, Hypochromic mic... ORPHA:66634
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Acute Interstitial Pneumonia
Cyanosis, Pericardial effusion, Hypoxemia, Peripheral edema, Reduced hematocrit, Pleural effusion ORPHA:79126
Oslam Syndrome
Anemia OMIM:165660
Immunodeficiency 46
Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Short stature, Hepatosplenomegaly, Decreased mean corpuscular ... OMIM:611590
Trichohepatoenteric Syndrome 1
Hepatomegaly, Increased mean platelet volume, Splenomegaly, Abnormality of the pancreas, Jaundice... OMIM:222470
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... OMIM:601859
Birk-Aharoni Syndrome
Macrocytic anemia OMIM:620071
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Hypochromic anemia, Anemia ORPHA:514
Primary Myelofibrosis
Pancytopenia, Extramedullary hematopoiesis, Petechiae, Thrombocytopenia, Leukocytosis, Splenomega... ORPHA:824
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Hypocalcemia, Hypophosphatemia ORPHA:89937
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia OMIM:617948
Craniofaciofrontodigital Syndrome
Persistent fetal circulation, Premature birth, Bicuspid aortic valve, Polyhydramnios, Edema, Peri... ORPHA:363705
Maturity-Onset Diabetes Of The Young, Type 14
Elevated hemoglobin A1c OMIM:616511
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia OMIM:616435
Barth Syndrome
Cyclic neutropenia, Granulocytopenia, Hypochromic microcytic anemia, Neutropenia OMIM:302060
Hereditary Spherocytosis
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero... ORPHA:822
Lesch-Nyhan Syndrome
Anemia ORPHA:510
Livedoid Vasculopathy
Pancytopenia, Leukocytosis, Hyperhomocystinemia, Abnormal circulating lipid concentration, Polycy... ORPHA:542643
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Skin ulcer, Anemia, Leukopenia, Pallo... ORPHA:507
Isolated Sedoheptulokinase Deficiency
Hypochromic microcytic anemia, Anemia ORPHA:440713
Syndromic Diarrhea
Hepatomegaly, Gastritis, Increased mean platelet volume, Splenomegaly, Bloody diarrhea, Abnormali... ORPHA:84064
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Pericarditis, Edema, Pericardial effusion, Dry skin, Hepatosplenomegaly, Left v... OMIM:619487
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... OMIM:618278
Hemolytic Anemia, Congenital, X-Linked
Hemolytic anemia OMIM:301015
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia OMIM:611490
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Microcytic anemia ORPHA:293967
Gaucher Disease, Perinatal Lethal
Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Cardiomegal... OMIM:608013
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Diarrhea, Microangiopathic hemolytic anemia, Decreased serum creatinine, Thrombo... ORPHA:54057
Congenital Tricuspid Valve Dysplasia
Cyanosis, Premature birth, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return,... ORPHA:555874
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Ventricular septal defect, Lymphedema, Patent ductus arteriosus, Hydrops fetali... OMIM:601927
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Peripheral Cone Dystrophy
Pallor OMIM:609021
Glycogen Storage Disease Vii
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Jaundice, ... OMIM:232800
Boomerang Dysplasia
Severe short-limb dwarfism, Hydrops fetalis, Polyhydramnios ORPHA:1263
Mednik Syndrome
Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Decreased circulatin... ORPHA:171851
Hereditary Methemoglobinemia
Athetosis, Methemoglobinemia ORPHA:621
Hyperzincemia With Functional Zinc Depletion
Hepatomegaly, Diarrhea, Increased serum zinc OMIM:601979
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume OMIM:619774
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Polyhydramnios, Cardiomegaly, Hydrops fetalis, Hypertrophic cardiomyop... OMIM:616897
Methylcobalamin Deficiency Type Cble
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Abnormality of the liver... ORPHA:2169
Progeria-Short Stature-Pigmented Nevi Syndrome
T lymphocytopenia, Microcytic anemia ORPHA:2959
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Macrocytic anemia OMIM:619046
Evans Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... ORPHA:1959
Gaucher Disease Type 3
Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, ... ORPHA:77261
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Elliptocytosis, Pallor OMIM:611804
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Intrauterine growth... OMIM:620135
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia OMIM:277410
Liver Disease, Severe Congenital
Chronic gastritis, Biliary hyperplasia, Leukopenia, Vomiting, Lymphocytosis, Hypocalcemia, Elevat... OMIM:619991
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circu... OMIM:300972
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Short stature, Pallor ORPHA:2786
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Lymphedema, Splenomegaly, Leukocytosis, Acute leukemia, Myeloprolifera... ORPHA:3226
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Ataxia, Reticulocytosis ORPHA:713
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Erythema, Reticulocytopenia, Hydrops fetali... OMIM:557000
Pediatric Systemic Lupus Erythematosus
Edema, Pericardial effusion, Leukopenia, Ascites, Microangiopathic hemolytic anemia, Pleural effu... ORPHA:93552
Diamond-Blackfan Anemia 11
Anemia of inadequate production, Neutropenia OMIM:614900
Transcobalamin Ii Deficiency
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia OMIM:275350
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Decreased fetal movement, Short stature, Polyhydramnios, Pericardial effusion, Multiple muscular ... OMIM:620070
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Abnormal circulating selenium concentration, Decreased serum iron, Dysphagia, Decreased serum zin... ORPHA:89842
Hydatidiform Mole
Anemia ORPHA:99927
Combined Oxidative Phosphorylation Defect Type 27
Nonimmune hydrops fetalis ORPHA:477774
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Thrombocytopenia, Splenomegaly, Giant platelets, El... OMIM:210250
Congenital Myopathy 1B, Autosomal Recessive
Decreased fetal movement, Hydrops fetalis, Polyhydramnios OMIM:255320
Optic Atrophy 1
Pallor OMIM:165500
Mosaic Trisomy 9
Ventricular septal defect, Dextrocardia, Polyhydramnios, Spina bifida, Asplenia, Abnormal heart v... ORPHA:99776
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F, Broad-based gait, Limb ataxia, Truncal ataxia OMIM:617101
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Mild postnatal g... OMIM:265300
Lymphatic Malformation 6
Genital edema, Short stature, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Spl... OMIM:616843
Rh-Null, Regulator Type
Hemolytic anemia, Stomatocytosis OMIM:268150
Congenital Disorder Of Glycosylation, Type Iiq
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu... OMIM:617395
Gm1-Gangliosidosis, Type I
Severe short stature, Abnormal heart valve morphology, Splenomegaly, Vacuolated lymphocytes, Dila... OMIM:230500
Idiopathic Neonatal Atrial Flutter
Hydrops fetalis, Fetal distress ORPHA:45452
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Constipation, Decreased serum iron ORPHA:391372
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, De... ORPHA:435934
Hamamy Syndrome
Hypochromic anemia, Microcytic anemia OMIM:611174
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... ORPHA:447
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Growth delay, Anemic pallor, Anemia, Edema ORPHA:329971
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia ORPHA:2668
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Pleural effusion, Ascites ORPHA:69735
Poems Syndrome
Edema, Pericardial effusion, Acrocyanosis, Thrombocytosis, Pleural effusion, Ascites, Polycythemia ORPHA:2905
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... ORPHA:906
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Trisomy 13
Ventricular septal defect, Patent ductus arteriosus, Hydrops fetalis, Atrial septal defect, Intra... ORPHA:3378
Fumarase Deficiency
Necrotizing enterocolitis, Intrahepatic cholestasis, Hyperbilirubinemia, Hepatic failure, Polycyt... OMIM:606812
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c OMIM:618858
Zinc Deficiency, Transient Neonatal
Decreased serum zinc OMIM:608118
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... OMIM:603909
Cold Agglutinin Disease
Splenomegaly, Hemolytic anemia, Pallor ORPHA:56425
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Iron deficiency anemia, Decreased circulating 12-HETE, Abnormal circulating eicosanoid concentrat... OMIM:618372
Wolfram Syndrome 1
Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia OMIM:222300
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia ORPHA:90045
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Macrocytic anemia, Granulocytopenia OMIM:606164
Blue Rubber Bleb Nevus
Iron deficiency anemia, Thrombocytopenia OMIM:112200
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
H Syndrome
Hepatosplenomegaly, Histiocytosis, Microcytic anemia ORPHA:168569
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Cardiomegaly, Pericardial effusion, Breech presentation, Hydrocephalus, Increased myoca... OMIM:261740
Irida Syndrome
Intrahepatic cholestasis, Decreased circulating copper concentration ORPHA:209981
Hypocomplementemic Urticarial Vasculitis
Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, Angioedema, Pleural effusion... ORPHA:36412
Von Hippel-Lindau Syndrome
Polycythemia OMIM:193300
Sepsis In Premature Infants
Cyanosis, Premature birth, Petechiae, Edema, Splenomegaly, Leukocytosis, Anemia, Pallor, Neutrope... ORPHA:90051
Trisomy 1Q
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Increased nuchal translucenc... ORPHA:261344
Achondrogenesis, Type Ii
Polyhydramnios, Edema, Disproportionate short-trunk short stature, Hydrops fetalis, Stillbirth, D... OMIM:200610
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:266120
Leukocyte Adhesion Deficiency Type Ii
Leukocytosis, Neutrophilia, Anemia, Microcytic anemia ORPHA:99843
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly, Fetal akinesia sequence, Hydrops fetal... OMIM:617022
Mucopolysaccharidosis Type 7
Lymphedema, Splenomegaly, Hydrops fetalis, Umbilical hernia, Ascites ORPHA:584
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Mild postnata... OMIM:235510
Kaposiform Lymphangiomatosis
Pericardial effusion, Splenomegaly, Hepatosplenomegaly, Anemia, Abnormal spleen morphology, Ecchy... ORPHA:464329
Huppke-Brendel Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration OMIM:614482
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Elevated hemoglobin A1c OMIM:609812
Diamond-Blackfan Anemia
Acute myeloid leukemia, Ventricular septal defect, Nonimmune hydrops fetalis, Pure red cell aplas... ORPHA:124
Cardiomyopathy, Familial Hypertrophic, 27
Nonimmune hydrops fetalis, Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular sept... OMIM:618052
Q Fever
Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, Myocarditis, E... ORPHA:781
Pyridoxal Phosphate-Responsive Seizures
Pyridoxine-responsive sideroblastic anemia ORPHA:79096
Diabetes Mellitus, Transient Neonatal, 3
Elevated hemoglobin A1c OMIM:610582
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Myopathy With Lactic Acidosis, Hereditary
Anemia, Sideroblastic anemia, Leukopenia OMIM:255125
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Normochromic anemia, Thrombocytopenia, Neutropenia OMIM:614857
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, Muscular ventricular septal defect, ... OMIM:115197
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Long Qt Syndrome 3
Nonimmune hydrops fetalis, Hydrops fetalis OMIM:603830
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Ataxia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thro... OMIM:127550
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Leukopenia, Thrombocytopenia OMIM:231095
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia, Pallor ORPHA:90037
Vexas Syndrome
Macrocytic anemia, Thrombocytopenia OMIM:301054
Cyclic Vomiting Syndrome
Growth delay, Cardiomyopathy, Pallor OMIM:500007
Letterer-Siwe Disease
Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia OMIM:246400
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Severe short stature, Hydrocephalus, Hydrops fetalis, Abnormal heart morphology, S... ORPHA:1865
Farber Disease
Short stature, Hydrops fetalis, Hepatosplenomegaly, Anemia, Joint swelling, Ascites, Thrombocytop... ORPHA:333
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Elevated hemoglobin A1c OMIM:619278
American Trypanosomiasis
Edema, Periorbital edema, Splenomegaly, Myocarditis, Cardiomyopathy, Pallor ORPHA:3386
Gm1 Gangliosidosis
Premature birth, Ventricular septal defect, Short stature, Splenomegaly, Patent ductus arteriosus... ORPHA:354
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Hydrops fetalis, Endocardial fibroelastosis OMIM:276822
Hereditary Hemorrhagic Telangiectasia
Microcytic anemia ORPHA:774
Focal Segmental Glomerulosclerosis 1
Pleural effusion, Ascites, Anemia, Edema OMIM:603278
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Hypoalbuminemia, Vomiti... OMIM:277900
Diamond-Blackfan Anemia 7
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612562
Diamond-Blackfan Anemia 10
Macrocytic anemia, Steroid-responsive anemia, Reticulocytopenia, Anemia OMIM:613309
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Nonimmune hydrops fetalis, Polyhydramnios, Fetal akinesia sequence, Dilated cardiomyopathy, Hepat... ORPHA:367
Monosomy 22
Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly ORPHA:96123
Lymphatic Malformation 1
Hyperkeratosis over edematous areas, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis OMIM:153100
Acquired Partial Lipodystrophy
Lymphocytosis ORPHA:79087
Glycogen Storage Disease Xii
Normocytic anemia, Splenomegaly, Normochromic anemia, Nonspherocytic hemolytic anemia, Anemia OMIM:611881
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Hypoproteinemia, Anemia OMIM:226300
Congenital Disorder Of Glycosylation, Type Ia
Pericarditis, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Cardiomyopathy, Abnormality... OMIM:212065
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Pallor, Neutropenia, Decreased proportion ... ORPHA:101096
Congenital Disorder Of Glycosylation, Type Ih
Decreased fetal movement, Edema, Patent ductus arteriosus, Anemia, Perimembranous ventricular sep... OMIM:608104
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion ORPHA:411703
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia ORPHA:88
Pulmonary Capillary Hemangiomatosis
Cyanosis, Pericardial effusion, Pedal edema, Hypoxemia, Pleural effusion, Pulmonary edema ORPHA:199241
Alkuraya-Kucinskas Syndrome
Pericardial effusion, Pleural effusion, Hydrocephalus, Edema OMIM:617822
Triosephosphate Isomerase Deficiency