Not currently registered for phenotyping at IMPC

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

Gene Summary

solute carrier family 7 (cationic amino acid transporter, y+ system), member 1
4831426K01Rik,  mCAT-1,  Atrc1,  Atrc-1,  Rev-1,  Rec-1,  Cat1

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 Slc7a1 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 Slc7a1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Anemia, Steroid-responsive anemia OMIM:618312
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Retic... OMIM:616689
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly OMIM:617441
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis OMIM:603529
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Sideroblastic anemia OMIM:182170
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly ORPHA:294
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Weight loss, Anisopoikilocytosis, Abnormal hemoglobin concentration, Reticu... ORPHA:35858
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Miscarriage, Drug-sensitive hemolytic anemi... ORPHA:2133
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia ORPHA:2802
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho... ORPHA:766
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Anemia of inadequat... OMIM:615631
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Anemia, Abnormal hemoglobin, Microcytic anemia ORPHA:231237
Diamond-Blackfan Anemia 13
Normocytic anemia, Elevated red cell adenosine deaminase level OMIM:615909
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Thrombocytopenia, Abnormal hemoglobin ORPHA:3319
Developmental And Epileptic Encephalopathy 50
Anemia, Schistocytosis, Anisopoikilocytosis, Acanthocytosis OMIM:616457
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis OMIM:206200
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Anemia, Sideroblastic anemia, Hypochromia OMIM:205950
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anemia, Dysplastic erythropoesis, Reticulocytopenia, Anisopoikilocytosis, Hepatosplenomegaly, Dec... ORPHA:300298
3-Methylglutaconic Aciduria, Type Viia
Anemia, Neutropenia, Anisopoikilocytosis OMIM:619835
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Small for gestational age, Erythroid hyperplasia, Reticulocytosis, Macrocytic d... OMIM:224120
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Poikilocytosis, Anisocytosis, Macrocytic anemia, Thrombocytopenia, Neutropenia, A... OMIM:300835
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, Splenomegal... OMIM:612690
Cyanosis, Transient Neonatal
Methemoglobinemia, Anemia, Reticulocytosis OMIM:613977
Chromosome 5Q Deletion Syndrome
Anemia of inadequate production, Erythroid hypoplasia, Refractory macrocytic anemia OMIM:153550
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Weight loss,... OMIM:613673
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis, Poikilocytosis OMIM:300367
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies OMIM:140700
Short Stature With Microcephaly And Distinctive Facies
Anemia, Decreased body weight, Death in infancy, Small for gestational age, Anisopoikilocytosis OMIM:615789
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decreased mean corpuscular he... ORPHA:3203
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio OMIM:300448
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Neonatal death, Hepatosplenomegaly OMIM:273680
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia OMIM:301083
Anemia ORPHA:655
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Pyropoikilocytosis, Hereditary
Elliptocytosis, Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis OMIM:266140
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly OMIM:312500
Congenital Atransferrinemia
Anemia ORPHA:1195
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Elliptocytosis 3
Decreased mean corpuscular volume, Elliptocytosis, Chronic hemolytic anemia, Pyropoikilocytosis OMIM:617948
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Elliptocytosis, Anemia of inadequate production, Hemolytic anemia OMIM:166910
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Poikilocytosis, Decreased mean corpuscular volume, Hypochromia, Splenomegaly OMIM:615234
Beta-Thalassemia Major
Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decreased mean corpuscular hemoglobin c... ORPHA:231214
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... ORPHA:251380
Acute Myelomonocytic Leukemia
Anemia, Weight loss, Leukocytosis, Eosinophilia, Thrombocytopenia ORPHA:517
Eosinophilia, Familial
Anemia, Thrombocytopenia, Leukocytosis, Eosinophilia OMIM:131400
Spherocytosis, Type 4
Splenomegaly, Hemolytic anemia, Reticulocytosis, Spherocytosis OMIM:612653
Orotic Aciduria
Pyrimidine-responsive megaloblastic anemia, Poikilocytosis, Anisocytosis, Failure to thrive, Fola... OMIM:258900
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Anemia of inadequate production, Erythroid hyperplasia, Reticulocytosis OMIM:237800
Anemia, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:846
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Elliptocytosis 2
Elliptocytosis, Hemolytic anemia, Reticulocytosis OMIM:130600
Spastic Paraplegia And Evans Syndrome
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia OMIM:601608
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia ORPHA:231401
Glutathione Peroxidase Deficiency
Compensated hemolytic anemia, Heinz bodies OMIM:614164
Hyperlysinemia, Type I
Anemia OMIM:238700
Diamond-Blackfan Anemia 3
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Thrombocytopenia, Leukemia OMIM:133180
Familial Pseudohyperkalemia
Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume ORPHA:90044
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular hemoglobin concentration, Congenital hemolytic anemia, Hemolytic anemi... ORPHA:3202
Spherocytosis, Type 1
Splenomegaly, Hemolytic anemia, Reticulocytosis, Spherocytosis OMIM:182900
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Hereditary Elliptocytosis
Stomatocytosis, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Reticulocytosis, P... ORPHA:288
Megaloblastic Anemia, Folate-Responsive
Episodic hemolytic anemia, Schistocytosis, Hypersegmentation of neutrophil nuclei, Folate-respons... OMIM:601775
Ovalocytosis, Southeast Asian
Elliptocytosis, Hemolytic anemia OMIM:166900
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185000
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Heinz bodies, Fava bean-induced hemolytic anemia, Reticulocytosis, Poikilocytosis, Anisocytosis, ... OMIM:300908
Anemia, Sideroblastic, 5
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia OMIM:619523
Acute Erythroid Leukemia
Erythroid hypoplasia, Leukopenia, Anemia, Pancytopenia ORPHA:318
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Poikilocytosis, Abnormal erythrocyte morphology, Anisocytosis, Increased mean corpuscular... ORPHA:98870
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Failure to thrive, Extramedullary hematopoiesis, Thrombocytopenia, Neutropeni... OMIM:615285
Immunodeficiency 69
Anemia, Pancytopenia, Hepatosplenomegaly, Failure to thrive, Thrombocytosis, Leukocytosis, Spleno... OMIM:618963
Primary Myelofibrosis
Anemia, Cachexia, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Thrombocytosis, Leukocytosis,... ORPHA:824
Bleeding Disorder, Platelet-Type, 19
Anemia, Thrombocytopenia, Macrothrombocytopenia OMIM:616176
Elliptocytosis 1
Elliptocytosis, Splenomegaly, Hemolytic anemia OMIM:611804
Rh Deficiency Syndrome
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Miscarriage, Anisocytosis,... ORPHA:71275
Bone Marrow Failure Syndrome 2
Leukopenia, Anemia, Thrombocytopenia OMIM:615715
Anemia, Neutropenia, Splenomegaly OMIM:602079
Diamond-Blackfan Anemia 12
Elevated red cell adenosine deaminase level, Macrocytic anemia, Reticulocytopenia, Normochromic a... OMIM:615550
Rh-Null, Regulator Type
Stomatocytosis, Hemolytic anemia OMIM:268150
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration
Acanthocytosis OMIM:607236
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Failure to thrive, Thrombocytopenia, Abnormal platelet morphology, Anisopoikilocytosis ORPHA:46059
Hemophagocytic Lymphohistiocytosis, Familial, 3
Granulocytopenia, Anemia, Hemophagocytosis, Hepatosplenomegaly OMIM:608898
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Elliptocytosis, Poikilocytosis, Decreased mean corpuscular volume, Anisocytosis OMIM:616959
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Failure to thrive, Anemia OMIM:610090
Glutathione Synthetase Deficiency
Hemolytic anemia ORPHA:32
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
Hydrops Fetalis, Nonimmune
Anemia OMIM:236750
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Anemia, Hypochromia, Erythroid hyperplasia OMIM:206100
Immunodeficiency 46
Failure to thrive, Anemia, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Fanconi Anemia, Complementation Group G
Anemia, Thrombocytopenia, Neutropenia, Leukemia OMIM:614082
Thrombocytopenia With Beta-Thalassemia, X-Linked
Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen... OMIM:314050
Refractory Anemia
Neutropenia, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytopenia, Anemia... ORPHA:98826
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Neutropenia, Macrocytic anemia, Reticulocytopenia OMIM:612527
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis OMIM:179700
Glutamate-Cysteine Ligase Deficiency
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly ORPHA:33574
Anemia, Congenital Dyserythropoietic, Type Ii
Anemia of inadequate production, Splenomegaly, Reticulocytosis OMIM:224100
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia ORPHA:295
Bleeding Disorder, Platelet-Type, 16
Anemia, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Thrombocytopenia OMIM:187800
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:230450
Acanthocytosis OMIM:200100
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Chronic hemolytic anemia, Thrombo... ORPHA:232
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia, Death in infancy OMIM:619302
Anemia, Sideroblastic, 1
Hypochromic microcytic anemia, Anemia of inadequate production, Sideroblastic anemia, Macrocytic ... OMIM:300751
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... OMIM:202700
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal reticulocyte morphology ORPHA:2522
Diamond-Blackfan Anemia 20
Anemia, Erythroid hypoplasia OMIM:618313
Anisopoikilocytosis, Hepatosplenomegaly, Schistocytosis, Increased mean platelet volume, Acanthoc... OMIM:607330
Anemia, Thrombocytopenia ORPHA:673
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia... OMIM:300946
Sitosterolemia 1
Stomatocytosis, Anemia, Reticulocytosis, Episodic hemolytic anemia, Chronic hemolytic anemia, Gia... OMIM:210250
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Mu-Heavy Chain Disease
Weight loss, Anemia, Splenomegaly, Abnormal B cell count ORPHA:100024
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:612126
Diamond-Blackfan Anemia 5
Erythroid hypoplasia, Leukopenia, Macrocytic anemia, Reticulocytopenia OMIM:612528
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:848
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Hypoplastic a... OMIM:159550
Osteopetrosis, Autosomal Recessive 8
Failure to thrive, Anemia, Thrombocytopenia, Splenomegaly OMIM:615085
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Erythrocytosis, Familial, 8
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia OMIM:222800
Erythrocytosis, Familial, 5
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:617907
Bone Marrow Failure Syndrome 6
Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia OMIM:618849
Vitamin B12-Responsive Methylmalonic Acidemia
Failure to thrive, Anemia ORPHA:28
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death, Neutropenia, Eosinophilia OMIM:257100
Erythrocytosis, Familial, 4
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:611783
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Anemia, Spontaneous hemolytic crises, Reticu... ORPHA:822
Formiminoglutamic Aciduria
Anemia, Megaloblastic anemia ORPHA:51208
Ichthyosis, Congenital, Autosomal Recessive 5
Acanthocytosis OMIM:604777
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Elliptocytosis, Reticulocytosis, Hepatosplenomegaly, Poikilocytosis, Anisocytos... OMIM:618278
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Majeed Syndrome
Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Failure to thrive, ... OMIM:609628
Reticular Dysgenesis
Leukopenia, Anemia, Weight loss, Abnormality of neutrophils, Failure to thrive ORPHA:33355
Hydatidiform Mole
Anemia, Miscarriage ORPHA:99927
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Anemia ORPHA:371
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly OMIM:607616
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... ORPHA:75564
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Splenomegaly, Hemolytic anemia, Thrombocytopenia, Increased mean platelet volume OMIM:153670
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Anemia, Thrombocytopenia, Pancytopenia OMIM:616435
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Erythrocytosis, Familial, 6
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:617980
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic anemia, Macrocytic dyserythropoietic anemia OMIM:619789
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Failure... OMIM:611590
Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis OMIM:300653
Glycogen Storage Disease Vii
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Reticulocytosis OMIM:232800
Thrombotic Thrombocytopenic Purpura, Hereditary
Thrombocytopenia, Schistocytosis, Microangiopathic hemolytic anemia, Reticulocytosis OMIM:274150
Hereditary Methemoglobinemia
Small for gestational age, Methemoglobinemia ORPHA:621
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Nonspherocytic hemolytic anemia, Splenomegaly, Normochromic a... OMIM:235700
Copper Deficiency, Familial Benign
Failure to thrive, Anemia OMIM:121270
Focal Segmental Glomerulosclerosis 1
Anemia OMIM:603278
Rosaï-Dorfman Disease
Anemia ORPHA:158014
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Dohle Bodies And Leukemia
Leukocyte inclusion bodies, Acute myeloid leukemia, Anemia OMIM:223350
Orthostatic Hypotension 2
Anemia OMIM:618182
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Thrombocytopenia, Splenomegaly, Anemia OMIM:610539
Hemophagocytic Lymphohistiocytosis, Familial, 4
Anemia, Hemophagocytosis, Thrombocytopenia, Neutropenia, Splenomegaly OMIM:603552
Amed Syndrome, Digenic
Acute myeloid leukemia, Leukopenia, Anemia, Failure to thrive, Thrombocytopenia OMIM:619151
Polycythemia Vera
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... OMIM:263300
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Thrombocytopenia, Schistocytosis, Microangiopathic hemolytic anemia, Reticulocytosis OMIM:235400
Chylomicron Retention Disease
Failure to thrive, Acanthocytosis ORPHA:71
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Anemia ORPHA:3204
Sickle Cell Disease
Splenomegaly, Hemolytic anemia, Target cells, Splenic infarction, Leukocytosis, Increased red cel... OMIM:603903
Stuve-Wiedemann Syndrome 2
Thrombocytopenia, Neonatal death, Stillbirth, Death in adolescence OMIM:619751
Intermediate Generalized Junctional Epidermolysis Bullosa
Anemia ORPHA:79402
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Failure to thrive, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Hypobetalipoproteinemia, Familial, 1
Acanthocytosis OMIM:615558
Hypothyroidism, Congenital, Nongoitrous, 6
Anemia, Increased body mass index, Increased body weight OMIM:614450
Abcd Syndrome
Large for gestational age, Neonatal death, Polycythemia OMIM:600501
Lesch-Nyhan Syndrome
Anemia ORPHA:510
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia OMIM:616738
Osteopetrosis, Autosomal Recessive 4
Anemia, Thrombocytopenia, Splenomegaly, Reticulocytosis OMIM:611490
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anisocytosi... OMIM:616860
Acanthocytosis OMIM:200150
Thrombotic Thrombocytopenic Purpura
Thrombocytopenia, Microangiopathic hemolytic anemia, Reticulocytosis ORPHA:54057
Mitochondrial Myopathy And Sideroblastic Anemia
Anemia ORPHA:2598
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Monocytosis, Leukopenia, Acute myeloid leukemia, Refractory anemia OMIM:616871
Specific Granule Deficiency 2
Anemia, Death in infancy, Absent neutrophil specific granules, Failure to thrive, Thrombocytopeni... OMIM:617475
Mitochondrial Complex I Deficiency, Nuclear Type 39
Small for gestational age, Anemia OMIM:620135
Oslam Syndrome
Anemia OMIM:165660
Infantile Liver Failure Syndrome 1
Failure to thrive, Anemia, Macrocytic anemia OMIM:615438
Immunodeficiency 21
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... OMIM:614172
Senior-Loken Syndrome 4
Anemia OMIM:606996
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
B lymphocytopenia, Sideroblastic anemia, Hypochromic microcytic anemia, Schistocytosis, Splenomegaly OMIM:616084
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Failure to thrive, Eosinophilia, Impaired oxidative burst, T... OMIM:226990
Pyruvate Kinase Deficiency Of Red Cells
Erythroid hyperplasia, Reticulocytosis, Decreased hemoglobin concentration, Chronic hemolytic ane... OMIM:266200
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Idiopathic Aplastic Anemia
Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Neutropenia ORPHA:88
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Hepatosplenomegaly, Hemophagocytosis, Thrombocytopenia, Splenomegaly OMIM:613101
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:618892
Bone Marrow Failure Syndrome 4
Leukopenia, Anemia, Thrombocytopenia OMIM:618116
Fibrodysplasia Ossificans Progressiva
Failure to thrive, Anemia ORPHA:337
Erythrocytosis, Familial, 1
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly OMIM:133100
Congenital Toxoplasmosis
Thrombocytopenia, Failure to thrive in infancy, Anemia ORPHA:858
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, B lymphocytopenia, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Pancyt... OMIM:619824
Immunodeficiency 27A
Anemia, Weight loss, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Histiocytosis, Splenomegaly OMIM:209950
Alpha-Heavy Chain Disease
Anemia, Splenomegaly ORPHA:100025
Diabetes Mellitus, Permanent Neonatal, 4
Small for gestational age, Elevated hemoglobin A1c OMIM:618858
Leukopenia, Anemia, Weight loss, Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, ... ORPHA:507
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Failure to thrive, Microcytic anemia ORPHA:98791
Hemochromatosis, Type 2B
Anemia, Splenomegaly OMIM:613313
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis ORPHA:713
Isolated Agammaglobulinemia
Anemia, Abnormality of neutrophils, Failure to thrive, Thrombocytopenia, Abnormal lymphocyte morp... ORPHA:229717
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Anemia, Pancytopenia, Failure to thrive, Thrombocytopenia, Spl... OMIM:616050
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia ORPHA:2123
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia ORPHA:2668
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Failure to thrive, Thrombocytopenia, Neutropenia, Splenomegaly ORPHA:79312
Rhabdoid Tumor
Weight loss, Thrombocytopenia, Anemia ORPHA:69077
Transcobalamin Ii Deficiency
Reticulocytopenia, Pancytopenia, Erythroid hypoplasia, Failure to thrive, Macrocytic anemia, Neut... OMIM:275350
Maternal Uniparental Disomy Of Chromosome 4
Abnormal erythrocyte morphology, Decreased body weight, Acanthocytosis ORPHA:96180
Erythrocytosis, Familial, 2
Increased hematocrit, Failure to thrive, Increased red blood cell mass, Increased hemoglobin OMIM:263400
Transaldolase Deficiency
Anemia, Thrombocytopenia, Hepatosplenomegaly ORPHA:101028
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Increased red ce... OMIM:194380
Hemolytic Anemia, Congenital, X-Linked
Hemolytic anemia OMIM:301015
Mcleod Syndrome
Splenomegaly, Acanthocytosis OMIM:300842
Amme Complex
Elliptocytosis OMIM:300194
Wolman Disease
Splenomegaly, Anemia, Cachexia, Bone-marrow foam cells ORPHA:75233
Hemochromatosis, Type 3
Anemia, Neutropenia, Lymphopenia OMIM:604250
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Anemia OMIM:613092
Acute Monoblastic/Monocytic Leukemia
Anemia, Weight loss, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia ORPHA:514
Tufted Angioma
Anemia, Thrombocytopenia ORPHA:1063
Osteopetrosis, Autosomal Dominant 3
Anemia, Splenomegaly OMIM:618107
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Small for gestational age, Elevated hemoglobin A1c OMIM:619278
Familial Benign Copper Deficiency
Anemia ORPHA:1551
Anemia, Failure to thrive in infancy ORPHA:436
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Combined Oxidative Phosphorylation Deficiency 40
Anemia, Neonatal death, Death in infancy OMIM:618835
Arthrogryposis Multiplex Congenita 5
Normocytic anemia, Death in infancy, Acanthocytosis, Poikilocytosis OMIM:618947
Coach Syndrome 3
Anemia OMIM:619113
Diabetes Mellitus, Permanent Neonatal, 1
Small for gestational age, Elevated hemoglobin A1c OMIM:606176
Combined Oxidative Phosphorylation Deficiency 42
Anemia, Neonatal death, Death in infancy OMIM:618839
Solitary Rectal Ulcer Syndrome
Anemia, Decreased body weight ORPHA:209964
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Stomatocytosis, Hemolytic anemia, Splenomegaly OMIM:608885
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Thrombocytopenia, Refractory anemia OMIM:231095
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Anemia, Hemophagocytosis, Splenomegaly, Pancytopenia OMIM:618398
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Thrombocytopenia, Anemia, Macrocytic anemia ORPHA:27
Immunodeficiency 102
Leukopenia, Anemia, Reduced natural killer cell count, B lymphocytopenia, Neutropenia in presence... OMIM:301082
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Anemia, Small for gestational age, Pancytopenia, Persistence of hemoglobi... OMIM:260400
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Anemia, Large for gestational age, Failure to thrive, Thrombocytopenia, Neutropenia OMIM:614520
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decre... OMIM:613011
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Neutropenia OMIM:617056
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Thrombocytopenia, Neutropenia, Anemia ORPHA:289916
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Overweight, Persistence of hemoglobin F OMIM:619769
Leukocyte Adhesion Deficiency, Type Iii
Anemia, Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Splenomegaly OMIM:612840
Pseudo-Torch Syndrome 3
Anemia, Congenital thrombocytopenia, Leukocytosis, Death in infancy OMIM:618886
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Anemia, Neutrophilia, Weight loss ORPHA:54251
Aregenerative Anemia
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni... ORPHA:101096
Diamond-Blackfan Anemia 11
Anemia, Anemia of inadequate production, Neutropenia OMIM:614900
Bone Marrow Failure Syndrome 5
Anemia, Pure red cell aplasia, Erythroid hypoplasia OMIM:618165
Dermotrichic Syndrome
Anemia ORPHA:99688
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Anemia ORPHA:3405
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Elliptocytosis ORPHA:86818
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Reticulocytosis, Schistocytosis, Leukocytosis, Thrombocytopenia ORPHA:90038
Hereditary Cryohydrocytosis With Reduced Stomatin
Stomatocytosis, Spontaneous hemolytic crises, Hepatosplenomegaly ORPHA:168577
Congenital Disorder Of Glycosylation, Type Ih
Anemia, Death in infancy, Failure to thrive, Thrombocytopenia, Neonatal death OMIM:608104
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Failure to thrive, Eosinop... OMIM:304790
Hemochromatosis, Type 5
Anemia OMIM:615517
8P11.2 Deletion Syndrome
Hemolytic anemia, Splenomegaly, Spherocytosis ORPHA:251066
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:612926
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Erythroid hyperplasia, Hepatosplenomegaly, Persistence of hemoglobin F... ORPHA:231222
Omenn Syndrome
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Failure to thrive,... OMIM:603554
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:612924
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Anemia, Aplastic anemia, Myeloid leukemia, Pancytopenia OMIM:614742
Combined Oxidative Phosphorylation Deficiency 41
Anemia OMIM:618838
Maturity-Onset Diabetes Of The Young, Type 14
Elevated hemoglobin A1c OMIM:616511
Cinca Syndrome
Leukocytosis, Anemia, Eosinophilia, Hepatosplenomegaly OMIM:607115
Gamma-Heavy Chain Disease
Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Thrombocytopenia, Splenomegaly,... ORPHA:100026
Eosinophilic Gastroenteritis
Weight loss, Leukocytosis, Anemia, Eosinophilia ORPHA:2070
Aggressive Systemic Mastocytosis
Anemia, Weight loss, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Increased proportion of CD2... ORPHA:98850
Congenital Erythropoietic Porphyria
Leukopenia, Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosi... ORPHA:79277
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Anemia, Small for gestational age, Hypochromic microcytic anemia, Failure to thrive, Death in chi... OMIM:619147
Desmoplastic Small Round Cell Tumor
Anemia, Cachexia, Weight loss ORPHA:83469
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:612925
Dominant Beta-Thalassemia
Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular hemoglobin concentration, Hepatos... ORPHA:231226
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Leukopenia, Anemia, Pancytopenia, Failure to thrive, Thrombocytopenia OMIM:613845
Weight loss, Leukemia, Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia ORPHA:99867
Wilson Disease
Anemia, Weight loss, Failure to thrive, Thrombocytopenia, Splenomegaly, Increased body weight ORPHA:905
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
HbH hemoglobin, Severe failure to thrive ORPHA:423479
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Letterer-Siwe Disease
Thrombocytopenia, Anemia, Neutropenia, Hepatosplenomegaly OMIM:246400
Anemia OMIM:604290
Pearson Marrow-Pancreas Syndrome
Anemia, Reticulocytopenia, Small for gestational age, Refractory sideroblastic anemia, Sideroblas... OMIM:557000
Corticosteroid-Binding Globulin Deficiency
Anemia OMIM:611489
Fanconi Anemia, Complementation Group E
Anemia, Reticulocytopenia, Small for gestational age, Pancytopenia, Thrombocytopenia, Neutropenia... OMIM:600901
Hoyeraal-Hreidarsson Syndrome
Failure to thrive, Thrombocytopenia, Abnormal leukocyte morphology, Anemia ORPHA:3322
Omenn Syndrome
Anemia, Failure to thrive, Leukocytosis, Eosinophilia, Splenomegaly, Abnormal lymphocyte morphology ORPHA:39041
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Methylmalonic Aciduria, Cblb Type
Anemia, Pancytopenia, Failure to thrive, Thrombocytopenia, Neutropenia OMIM:251110
Bazex Syndrome
Anemia ORPHA:166113
Transaldolase Deficiency
Anemia, Small for gestational age, Pancytopenia, Hepatosplenomegaly, Failure to thrive, Thrombocy... OMIM:606003
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:266120
Anemia, Congenital Dyserythropoietic, Type Iiia
Congenital hypoplastic anemia, Anemia of inadequate production, Macrocytic anemia OMIM:105600
Fanconi Anemia, Complementation Group A
Anemia, Reticulocytopenia, Small for gestational age, Pancytopenia, Thrombocytopenia, Neutropenia... OMIM:227650
Acanthocytosis, Anemia, Failure to thrive, Reticulocytosis ORPHA:14
Osteopetrosis, Autosomal Recessive 2
Anemia, Pancytopenia, Hepatosplenomegaly, Extramedullary hematopoiesis, Thrombocytopenia OMIM:259710
Diamond-Blackfan Anemia 10
Steroid-responsive anemia, Anemia, Macrocytic anemia, Reticulocytopenia OMIM:613309
Osteopetrosis With Renal Tubular Acidosis
Leukopenia, Anemia, Elliptocytosis, Pancytopenia, Failure to thrive, Thrombocytopenia ORPHA:2785
Lead Poisoning
Abnormal T cell morphology, Anemia, Small for gestational age, Miscarriage, Imbalanced hemoglobin... ORPHA:330015
Methylmalonic Aciduria, Cbla Type
Anemia, Pancytopenia, Failure to thrive, Thrombocytopenia, Neutropenia OMIM:251100
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Anemia, Weight loss OMIM:256700
Immunodeficiency 22
Failure to thrive, Thrombocytopenia, Anemia, Decreased proportion of CD4-positive helper T cells OMIM:615758
Lysosomal Acid Lipase Deficiency
Leukopenia, Anemia, Death in infancy, Hypersplenism, Hepatosplenomegaly, Failure to thrive, Bone-... OMIM:278000
Nephronophthisis 4
Anemia OMIM:606966
Stormorken Syndrome
Asplenia, Anemia, Howell-Jolly bodies, Thrombocytopenia, Hypoplastic spleen OMIM:185070
Neutrophilic Dermatosis, Acute Febrile
Anemia OMIM:608068
Gaucher Disease, Type I
Anemia, Hypersplenism, Pancytopenia, Thrombocytopenia, Splenomegaly OMIM:230800
Weight loss, Acanthocytosis, Normochromic anemia ORPHA:97280
Blackfan-Diamond Anemia
Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Small for gestational age, Pure red cell a... ORPHA:124
Kasabach-Merritt Syndrome
Leukopenia, Anemia, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Neutrop... ORPHA:2330
Pantothenate Kinase-Associated Neurodegeneration
Acanthocytosis ORPHA:157850
Gaucher Disease, Type Ii
Anemia, Death in infancy, Failure to thrive, Thrombocytopenia, Splenomegaly OMIM:230900
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Lymphopenia, Failure to thrive, Thrombocytopenia, Splenomegaly OMIM:617591
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Elliptocytosis, Anemia OMIM:300990
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils ORPHA:2268
Fanconi Anemia, Complementation Group C
Anemia, Reticulocytopenia, Small for gestational age, Pancytopenia, Thrombocytopenia, Neutropenia... OMIM:227645
Sandifer Syndrome
Anemia ORPHA:71272
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Leukopenia, Anemia, Reticulocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia, Neutropenia ORPHA:508542
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin, Death in infancy ORPHA:847
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemia ORPHA:329971
Nephronophthisis 1
Anemia OMIM:256100
Juvenile Polyposis Syndrome
Failure to thrive, Anemia OMIM:174900
Good Syndrome
Anemia, Thrombocytopenia, Abnormal leukocyte morphology ORPHA:169105
Osteopetrosis, Autosomal Recessive 3
Hepatosplenomegaly, Anemia, Extramedullary hematopoiesis OMIM:259730
Hereditary Orotic Aciduria
Anemia, Splenomegaly ORPHA:30
Amoebiasis Due To Entamoeba Histolytica
Weight loss, Anemia, Leukocytosis ORPHA:67
Glycogen Storage Disease Xii
Anemia, Normocytic anemia, Nonspherocytic hemolytic anemia, Splenomegaly, Normochromic anemia OMIM:611881
Arteriosclerosis, Severe Juvenile
Anemia OMIM:208060
Malt Lymphoma
Anemia, Weight loss ORPHA:52417
Hyperparathyroidism, Neonatal Severe
Failure to thrive, Anemia, Splenomegaly OMIM:239200
Castleman Disease
Decreased mean corpuscular volume, Weight loss, Thrombocytopenia, Anemia ORPHA:160
Hemophagocytic Syndrome Associated With An Infection
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Pancytopenia, He... ORPHA:158048
Nephronophthisis 11
Anemia OMIM:613550
Dyskeratosis Congenita, Autosomal Dominant 1
Leukopenia, Anemia, Lymphopenia, Increased mean corpuscular volume, Thrombocytopenia, Aplastic an... OMIM:127550
Pancreatic And Cerebellar Agenesis
Failure to thrive, Anemia, Death in infancy OMIM:609069
Primary Hyperoxaluria Type 1
Failure to thrive, Anemia ORPHA:93598
Senior-Loken Syndrome 1
Anemia OMIM:266900
Neurodegeneration With Brain Iron Accumulation 1
Acanthocytosis OMIM:234200
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio OMIM:301040
Renal Nutcracker Syndrome
Anemia, Weight loss ORPHA:71273
Osteopetrosis, Autosomal Recessive 7
Anemia, Death in childhood, Splenomegaly, Death in infancy OMIM:612301
Fanconi Anemia, Complementation Group D2
Anemia, Reticulocytopenia, Small for gestational age, Pancytopenia, Thrombocytopenia, Neutropenia... OMIM:227646
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Anemia, Lymphopenia ORPHA:935
Kenny-Caffey Syndrome, Type 2
Small for gestational age, Anemia OMIM:127000
Lymphatic Malformation 7
Anemia OMIM:617300
Diamond-Blackfan Anemia 1
Reticulocytopenia, Failure to thrive, Thrombocytosis, Thrombocytopenia, Neutropenia, Elevated red... OMIM:105650
Paroxysmal Nocturnal Hemoglobinuria
Leukopenia, Anemia, Hemolytic anemia, Abnormal erythrocyte enzyme level, Erythroid hyperplasia, R... ORPHA:447
Cogan Syndrome
Anemia, Thrombocytosis, Leukocytosis ORPHA:1467
Autoimmune Lymphoproliferative Syndrome
Increased B cell count, Abnormal proportion of CD8-positive T cells, Coombs-positive hemolytic an... ORPHA:3261
Weight loss, Abnormal erythrocyte enzyme level, Splenomegaly, Acanthocytosis ORPHA:2388
Tangier Disease
Thrombocytopenia, Anemia, Hepatosplenomegaly ORPHA:31150
Pearson Syndrome
Anemia, Small for gestational age, Reticulocytosis, Pancytopenia, Thrombocytopenia, Hypoplastic s... ORPHA:699
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Anemia OMIM:175050
Marburg Hemorrhagic Fever
Leukopenia, Reticulocytosis, Lymphopenia, Neutrophilia in presence of infection, Thrombocytopenia... ORPHA:99826


Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Slc7a1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Slc7a1.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Cysteine depletion induces pancreatic tumor ferroptosis in mice. Science (New York, N.Y.) (April 2020) Slc7a11tm1c(EUCOMM)Wtsi Slc7a11tm1a(EUCOMM)Wtsi 32241947
Glutamate Signaling in Hepatic Stellate Cells Drives Alcoholic Steatosis. Cell metabolism (August 2019) Slc7a11tm1c(EUCOMM)Wtsi Slc7a11tm1a(EUCOMM)Wtsi 31474565
Transcriptome Analysis of Targeted Mouse Mutations Reveals the Topography of Local Changes in Gene Expression. PLoS genetics (February 2016) Slc7a13tm1(KOMP)Vlcg PMC4739719

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MGI Allele Allele Type Produced
Slc7a1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Slc7a1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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