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Gene: Slc7a1 MGI:88117

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

solute carrier family 7 (cationic amino acid transporter, y+ system), member 1

Synonyms:

4831426K01Rik, mCAT-1, Atrc1, Atrc-1, Rev-1, Rec-1, Cat1

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by 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.

Human diseases associated with Slc7a1 (0 diseases)
Human diseases predicted to be associated with Slc7a1 (392 diseases)

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	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
Delta-Beta-Thalassemia	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
Nephronophthisis	Anemia	ORPHA:655
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis	OMIM:619398
Cryohydrocytosis	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
Alpha-Thalassemia	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
Trimethylaminuria	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
Beta-Thalassemia	Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio	OMIM:613985
Alpha-Thalassemia	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:604131
Lathosterolosis	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
Abetalipoproteinemia	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
Lathosterolosis	Anisopoikilocytosis, Hepatosplenomegaly, Schistocytosis, Increased mean platelet volume, Acanthoc...	OMIM:607330
Malaria	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
Beta-Thalassemia	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
Choreoacanthocytosis	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
Harderoporphyria	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
Leishmaniasis	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
Hypophosphatasia	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
Thymoma	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
Aceruloplasminemia	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
Abetalipoproteinemia	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
Glucagonoma	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
Choreoacanthocytosis	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

Histopathology

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)	Slc7a11^{tm1c(EUCOMM)Wtsi} Slc7a11^{tm1a(EUCOMM)Wtsi}	32241947
Glutamate Signaling in Hepatic Stellate Cells Drives Alcoholic Steatosis.	Cell metabolism (August 2019)	Slc7a11^{tm1c(EUCOMM)Wtsi} Slc7a11^{tm1a(EUCOMM)Wtsi}	31474565
Transcriptome Analysis of Targeted Mouse Mutations Reveals the Topography of Local Changes in Gene Expression.	PLoS genetics (February 2016)	Slc7a13^{tm1(KOMP)Vlcg}	PMC4739719

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
Slc7a1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Slc7a1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

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