Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
deoxyribonuclease II alpha
Synonyms:
N/A

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Dnase2a 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 Dnase2a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
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
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death, Congenital diaphragmatic hernia OMIM:226735
Hernia, Anterior Diaphragmatic
Neonatal death, Congenital diaphragmatic hernia OMIM:306950
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly ORPHA:294
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor... OMIM:206000
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Diamond-Blackfan Anemia 13
Elevated red cell adenosine deaminase level, Normocytic anemia OMIM:615909
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Leukopenia, Hypoplasia of the thymus OMIM:267500
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:206100
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:312500
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia ORPHA:2802
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Hepatosplenomegaly, Anemia OMIM:273680
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies OMIM:140700
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia ORPHA:972
Chromosome 5Q Deletion Syndrome
Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia OMIM:153550
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Thrombocytopenia, Hepatosplenomegaly, Anemia OMIM:610539
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Apolipoprotein A-I Deficiency
Lymphadenopathy, Anemia, Splenomegaly ORPHA:425
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Pancytopenia And Occlusive Vascular Disease
Thrombocytopenia, Leukopenia, Pancytopenia, Anemia OMIM:167850
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia OMIM:619398
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Anemia, Splenomegaly, Leukemia OMIM:133180
Congenital Atransferrinemia
Hypothyroidism, Anemia ORPHA:1195
Acute Erythroid Leukemia
Erythroid hypoplasia, Pancytopenia, Leukopenia, Anemia, Bone marrow hypocellularity ORPHA:318
Nephronophthisis
Anemia ORPHA:655
Omenn Syndrome
Severe B lymphocytopenia, Thrombocytopenia, Hypoplasia of the thymus, Eosinophilia, B lymphocytop... OMIM:603554
Spastic Paraplegia And Evans Syndrome
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia OMIM:601608
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Leukopenia, Splenomegaly, Anemia OMIM:615285
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Bone marrow hypocellularity, Leukopenia OMIM:615715
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia OMIM:131400
Neuronal Intestinal Pseudoobstruction
Patent ductus arteriosus, Congenital diaphragmatic hernia ORPHA:99811
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
8p23.1 deletion syndrome
Congenital diaphragmatic hernia DECIPHER:39
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Hypogonadism, Anemia, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis OMIM:615234
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Erythroid hyperplasia, Anemia of inadequate production, Anemia, Splenomegaly OMIM:613673
Glutathione Peroxidase Deficiency
Heinz bodies, Compensated hemolytic anemia OMIM:614164
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Congenital diaphragmatic hernia ORPHA:261102
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Hepatosplenomegaly, Granulocytopenia, Anemia OMIM:608898
Fanconi Anemia, Complementation Group T
Thrombocytopenia, Bone marrow hypocellularity, Pancytopenia, Anemia OMIM:616435
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Splenomegaly, Erythroid hyperplasia, Anemia of inadequate production OMIM:237800
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Refractory Anemia
Erythroid hypoplasia, Neutropenia, Normocytic anemia, Thrombocytopenia, Normochromic anemia, Anem... ORPHA:98826
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
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Anemia, Splenomegaly, Hypersplenism, Abnorma... ORPHA:846
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ... ORPHA:766
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Hemolytic anemia OMIM:231900
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Anisocytosis, Splenomegaly, Anemia, Anemia of inadequate ... OMIM:615631
Cutis Laxa-Marfanoid Syndrome
Flexion contracture, Congenital diaphragmatic hernia ORPHA:171719
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Cryptorchidism, Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate pro... ORPHA:67044
Acute Myelomonocytic Leukemia
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia ORPHA:517
Isolated Anencephaly
Thymus hyperplasia, Omphalocele, Congenital diaphragmatic hernia ORPHA:563609
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:618963
Glutathione Synthetase Deficiency
Hemolytic anemia ORPHA:32
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Congenital diaphragmatic hernia OMIM:614100
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Chromosome 15Q25 Deletion Syndrome
Inguinal hernia, Macrocytic anemia, Congenital diaphragmatic hernia OMIM:614294
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Anisocytosis, Spleno... OMIM:224120
Bleeding Disorder, Platelet-Type, 16
Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Anemia, Platelet anisocytosis OMIM:187800
Protoporphyria, Erythropoietic, 2
Iron deficiency anemia OMIM:618015
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Splenome... ORPHA:444463
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:230450
Anemia, Sideroblastic, 1
Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic anemia, Anemia of inadequate prod... OMIM:300751
Hemolytic Anemia, Congenital, X-Linked
Hemolytic anemia OMIM:301015
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Splenomegaly, Cholelithiasis, Anemia of inadequate production OMIM:224100
Hydrops Fetalis, Nonimmune
Anemia OMIM:236750
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Omphalocele, Congenital diaphragmatic hernia ORPHA:2141
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Omphalocele, Abnormality of the diaphragm, Congenital diaphragmatic hernia OMIM:601163
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia ORPHA:438134
Congenital Diaphragmatic Hernia
Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia ORPHA:2140
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Decreased proporti... OMIM:617241
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte transformation with phytohemaggl... OMIM:300400
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Neutropenia, Anemia OMIM:614082
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia OMIM:615524
Congenital unilateral pulmonary hypoplasia
Congenital diaphragmatic hernia ORPHA:2258
Erythrocytosis, Familial, 4
Polycythemia, Increased hematocrit, Increased hemoglobin, Elevated circulating erythropoietin con... OMIM:611783
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Cryptorchidism, Erythroid hypoplasia, Monocytosis, Lymphopenia, Neutropenia, Hypoplasia of the th... OMIM:612541
Diamond-Blackfan Anemia 10
Patent ductus arteriosus, Reticulocytopenia, Anemia, Congenital diaphragmatic hernia, Macrocytic ... OMIM:613309
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy, Pure red cell aplasia, Anemia OMIM:618165
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Macrocytic anemia, Granulocytopenia, Congenital diaphragmatic hernia OMIM:606164
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Anemia OMIM:618313
Gastrointestinal Defects And Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Hypoplasia of the thymus OMIM:243150
Cernunnos-Xlf Deficiency
T lymphocytopenia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia ORPHA:169079
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Polycythemia, Cholelithiasis, Normocytic anemia, Normochromic an... OMIM:222800
Greig Cephalopolysyndactyly Syndrome
Umbilical hernia, Congenital diaphragmatic hernia ORPHA:380
Erythrocytosis, Familial, 5
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617980
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Cryohydrocytosis
Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly OMIM:185020
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Diamond-Blackfan Anemia 12
Elevated red cell adenosine deaminase level, Normochromic anemia, Macrocytic anemia, Reticulocyto... OMIM:615550
Specific Granule Deficiency 2
Thrombocytopenia, Absent neutrophil specific granules, Neutropenia, Anemia OMIM:617475
Mu-Heavy Chain Disease
Abnormal B cell count, Lymphadenopathy, Anemia, Splenomegaly ORPHA:100024
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Thrombocytopenia, Anemia, Splenomegaly, Lymphadenopathy OMIM:603552
Acrocallosal Syndrome
Inguinal hernia, Congenital diaphragmatic hernia ORPHA:36
Fanconi Anemia, Complementation Group V
Thrombocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia OMIM:617243
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Anemia, Splenomegaly OMIM:615085
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Thrombocytopenia 5
Thrombocytopenia, Neutropenia, Anemia OMIM:616216
Spherocytosis, Type 5
Reticulocytosis, Spherocytosis, Hemolytic anemia, Splenomegaly OMIM:612690
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Anisopoik... OMIM:616689
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Erythroid hyperplasia, Anisocytosis, Anemia, Splenomegaly, Type II diabetes mellitus... OMIM:616860
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hypoplastic anemia, A... OMIM:159550
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Thrombocytopenia, Anemia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:613101
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Monocytosis, Acute myeloid leukemia, Leukopenia, Refractory anemia, Bone marrow hypocellularity OMIM:616871
Glutamate-Cysteine Ligase Deficiency
Reticulocytosis, Hepatosplenomegaly, Hemolytic anemia ORPHA:33574
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Anemia ORPHA:3204
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Increased muscle glycogen content, Anemia, Skeletal muscle atrophy ORPHA:371
Malaria
Thrombocytopenia, Anemia ORPHA:673
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia ORPHA:1166
Hemochromatosis, Type 2B
Hypogonadism, Anemia, Splenomegaly OMIM:613313
Chromosome 1Q41-Q42 Deletion Syndrome
Congenital diaphragmatic hernia OMIM:612530
Atransferrinemia
Hypochromic anemia OMIM:209300
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Hemolytic anemia, Increased ... ORPHA:3202
Pernicious Anemia
Megaloblastic anemia OMIM:170900
Alpha-Heavy Chain Disease
Lymphadenopathy, Premature ovarian insufficiency, Anemia, Splenomegaly ORPHA:100025
Schisis Association
Omphalocele, Congenital diaphragmatic hernia ORPHA:63862
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Neutropenia, Reticulocytopenia OMIM:612527
Senior-Loken Syndrome 1
Anemia OMIM:266900
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Bone Marrow Failure Syndrome 4
Thrombocytopenia, Anemia, Bone marrow hypocellularity, Leukopenia OMIM:618116
Hyperlysinemia, Type I
Anemia OMIM:238700
Donnai-Barrow Syndrome
Omphalocele, Umbilical hernia, Congenital diaphragmatic hernia ORPHA:2143
Spherocytosis, Type 4
Reticulocytosis, Spherocytosis, Hemolytic anemia, Splenomegaly OMIM:612653
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Nonspherocytic hemolytic anemia, Heinz body anemia, Elliptocytosis, Poikilocytosis OMIM:141700
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Hypothyroidism, Lymphopenia, Neutropenia, Anemia, Increased mean cor... OMIM:618849
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin, Splenomegaly OMIM:133100
Majeed Syndrome
Microcytic anemia, Erythroid hyperplasia, Delayed puberty, Anemia of inadequate production, Decre... OMIM:609628
Immunodeficiency 46
Intermittent thrombocytopenia, Neutropenia, Anemia OMIM:616740
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hyperparathyroidism, Anemia ORPHA:2668
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Thrombocytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:611490
Pyropoikilocytosis, Hereditary
Microspherocytosis, Hemolytic anemia, Elliptocytosis, Pyropoikilocytosis OMIM:266140
Osteopetrosis, Autosomal Dominant 3
Hyperparathyroidism, Anemia, Splenomegaly OMIM:618107
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis OMIM:206200
Idiopathic Aplastic Anemia
Neutropenia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Anemia, Bone marrow hypocellularity ORPHA:88
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Acanthocytosis, Congenital thrombocytopenia, Poikilocytosis, Anemia of inadequate production OMIM:300367
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, ... OMIM:109270
Cebalid Syndrome
Congenital diaphragmatic hernia OMIM:618774
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrocele testis, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia OMIM:616738
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:314050
Spherocytosis, Type 3
Spherocytosis, Hemolytic anemia OMIM:270970
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Cholelithiasis, Splenomegaly, Spherocytosis OMIM:182900
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Reticulocytosis, Cholelithiasis, Normocytic anemia, Normochromic... OMIM:235700
Diamond-Blackfan Anemia 5
Erythroid hypoplasia, Macrocytic anemia, Leukopenia, Reticulocytopenia OMIM:612528
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Thrombocytopenia, Anemia, Splenomegaly, Hypogonadotropic hypog... ORPHA:848
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Tonne-Kalscheuer Syndrome
Congenital diaphragmatic hernia OMIM:300978
Xp22.13P22.2 Duplication Syndrome
Umbilical hernia, Congenital diaphragmatic hernia ORPHA:284180
Dohle Bodies And Leukemia
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia OMIM:223350
Reticular Dysgenesis
Abnormality of neutrophils, Anemia, Aplasia/Hypoplasia of the thymus, Leukopenia ORPHA:33355
Focal Segmental Glomerulosclerosis 1
Anemia OMIM:603278
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Elevated red cell adenosine deaminase level, Anisopoikilocytosis, Hemolytic anemia, Stomatocytosis OMIM:102730
Elliptocytosis 1
Hemolytic anemia, Elliptocytosis, Splenomegaly OMIM:611804
Ghosal Hematodiaphyseal Dysplasia
Thrombocytopenia, Leukopenia, Bone marrow hypocellularity, Refractory anemia OMIM:231095
Cooper-Jabs Syndrome
Camptodactyly of finger, Umbilical hernia, Congenital diaphragmatic hernia ORPHA:1488
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Anemia, Splenomegaly, Hepatosplenomegaly, Abnormality... OMIM:612840
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Patent ductus arteriosus, Congenital diaphragmatic hernia ORPHA:1120
Amed Syndrome, Digenic
Adrenal hypoplasia, Thrombocytopenia, Acute myeloid leukemia, Anemia, Leukopenia, Bone marrow hyp... OMIM:619151
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Histiocytosis, Anemia, Splenomegaly, Enlarged mesenteric lymph node... OMIM:209950
Craniofrontonasal Dysplasia
Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:1520
Lesch-Nyhan Syndrome
Anemia ORPHA:510
1Q41Q42 Microdeletion Syndrome
Hyposegmentation of neutrophil nuclei, Congenital diaphragmatic hernia ORPHA:250999
Mullegama-Klein-Martinez Syndrome
Congenital diaphragmatic hernia OMIM:301022
Pericardial And Diaphragmatic Defect
Aplasia of the left hemidiaphragm, Patent ductus arteriosus, Congenital diaphragmatic hernia ORPHA:2847
Oslam Syndrome
Anemia OMIM:165660
Gillessen-Kaesbach-Nishimura Syndrome
Flexion contracture, Omphalocele, Congenital diaphragmatic hernia OMIM:263210
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus OMIM:602450
Elliptocytosis 3
Chronic hemolytic anemia, Elliptocytosis, Decreased mean corpuscular volume, Pyropoikilocytosis OMIM:617948
Mitochondrial Myopathy And Sideroblastic Anemia
Delayed puberty, Anemia ORPHA:2598
Proximal 16P11.2 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:370079
Overhydrated Hereditary Stomatocytosis
Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly OMIM:185000
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Megaloblastic anemia, Lymphopenia, Pancytopenia, Anemia of inadequate production,... OMIM:617780
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Hemochromatosis, Type 4
Anemia OMIM:606069
Mitochondrial Complex I Deficiency, Nuclear Type 16
Aplasia of the left hemidiaphragm OMIM:618238
Senior-Loken Syndrome 4
Anemia OMIM:606996
Emanuel Syndrome
Inguinal hernia, Patent ductus arteriosus, Congenital diaphragmatic hernia OMIM:609029
Elliptocytosis 2
Reticulocytosis, Hemolytic anemia, Elliptocytosis OMIM:130600
Intermediate Generalized Junctional Epidermolysis Bullosa
Anemia ORPHA:79402
Non-Syndromic Posterior Hypospadias
Omphalocele, Congenital diaphragmatic hernia ORPHA:95706
Serkal Syndrome
Congenital diaphragmatic hernia ORPHA:139466
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy ORPHA:37748
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypothyroidism, Reticulocytopenia, Anisopoikilocytosis, Adrenal insufficiency, Dysplastic erythro... ORPHA:300298
13Q12.3 Microdeletion Syndrome
Camptodactyly, Congenital diaphragmatic hernia ORPHA:412035
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hemophagocytosis, Anemia, Splenomegaly OMIM:618398
Donnai-Barrow Syndrome
Diaphragmatic eventration, Omphalocele, Umbilical hernia, Congenital diaphragmatic hernia OMIM:222448
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Inguinal hernia, Congenital diaphragmatic hernia ORPHA:2063
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive he... OMIM:613011
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Lymphopenia, Aplasia of the thymus, Hepatosplenomegaly OMIM:242700
Transaldolase Deficiency
Thrombocytopenia, Hepatosplenomegaly, Anemia ORPHA:101028
Trisomy 1Q
Camptodactyly of finger, Patent ductus arteriosus, Omphalocele, Congenital diaphragmatic hernia ORPHA:261344
Hemochromatosis, Type 3
Hypogonadotropic hypogonadism, Lymphopenia, Neutropenia, Anemia OMIM:604250
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus ORPHA:40366
Pericardial Effusion, Chronic
Polycythemia OMIM:260900
Vitamin B12-Responsive Methylmalonic Acidemia
Anemia ORPHA:28
Thoracoabdominal Syndrome
Ventral hernia, Patent ductus arteriosus, Omphalocele, Congenital diaphragmatic hernia OMIM:313850
Leishmaniasis
Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, Splenomegaly, Anemia, Leukopenia,... ORPHA:507
Hypothyroidism, Congenital, Nongoitrous, 6
Impaired sensitivity to thyroid hormone, Congenital hypothyroidism, Increased T3/T4 ratio, Anemia OMIM:614450
Axial Mesodermal Dysplasia Spectrum
Abnormality of the spleen, Omphalocele, Congenital diaphragmatic hernia ORPHA:1834
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Anemia OMIM:613092
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Myeloid leukemia, Pancytopenia, Aplastic anemia, Anemia, Mediastinal lymphadenopathy, Bone marrow... OMIM:614742
Gaucher Disease, Type Ii
Thrombocytopenia, Anemia, Splenomegaly OMIM:230900
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus ORPHA:3004
Emanuel Syndrome
Inguinal hernia, Multiple joint contractures, Patent ductus arteriosus, Congenital diaphragmatic ... ORPHA:96170
Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies
Flexion contracture, Umbilical hernia, Inguinal hernia, Death in childhood, Congenital diaphragma... OMIM:618651
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Cutis Laxa, Autosomal Recessive, Type Ia
Inguinal hernia, Umbilical hernia, Congenital diaphragmatic hernia OMIM:219100
Primary Myelofibrosis
Poikilocytosis, Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Pancytopenia, Thrombo... ORPHA:824
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Anemia, Splenomegaly ORPHA:1046
Matthew-Wood Syndrome
Abnormal spleen morphology, Congenital diaphragmatic hernia ORPHA:2470
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Anisocytosis, Splenomegaly, He... OMIM:300908
Isolated Agammaglobulinemia
Abnormality of neutrophils, Abnormal lymphocyte morphology, Thrombocytopenia, Anemia, Abnormality... ORPHA:229717
Ataxia-Telangiectasia
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Female hypog... OMIM:208900
Diamond-Blackfan Anemia 11
Bone marrow hypocellularity, Neutropenia, Anemia, Anemia of inadequate production OMIM:614900
Cinca Syndrome
Leukocytosis, Lymphadenopathy, Anemia, Hepatosplenomegaly, Eosinophilia OMIM:607115
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus OMIM:617022
Hydatidiform Mole
Hyperthyroidism, Anemia ORPHA:99927
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Autoimmune thrombocytopenia, Autoimmune hemolyti... OMIM:102700
Gamma-Heavy Chain Disease
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morphology, Thrombo... ORPHA:100026
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Anemia ORPHA:2123
15Q24 Microdeletion Syndrome
Hernia, Congenital diaphragmatic hernia ORPHA:94065
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hypoplasia of the thymus, Cryptorchidism OMIM:214110
Wolman Disease
Bone-marrow foam cells, Adrenal insufficiency, Anemia, Splenomegaly, Adrenal calcification ORPHA:75233
Rhabdoid Tumor
Thrombocytopenia, Anemia, Lymphadenopathy ORPHA:69077
Good Syndrome
Aplasia/Hypoplasia of the thymus, Thrombocytopenia, Thymoma, Anemia, Mediastinal lymphadenopathy,... ORPHA:169105
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal testis morphology, Anemia, Neutrophilia, Abnormality of the lymphatic system, Abnormalit... ORPHA:54251
46,Xx Sex Reversal 5
Aplasia of the left hemidiaphragm OMIM:618901
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Central hypothyroidism... ORPHA:514
Microphthalmia, Syndromic 9
Diaphragmatic eventration, Patent ductus arteriosus, Inguinal hernia, Multilobulated spleen, Cong... OMIM:601186
Arterial Tortuosity Syndrome
Hiatus hernia, Flexion contracture, Umbilical hernia, Inguinal hernia, Congenital diaphragmatic h... OMIM:208050
Hereditary Elliptocytosis
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Abnormal erythrocyte morpholog... ORPHA:288
Familial Pseudohyperkalemia
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume ORPHA:90044
Craniorachischisis
Omphalocele, Congenital diaphragmatic hernia ORPHA:63260
Congenital Dyserythropoietic Anemia Type Iii
Abnormal erythrocyte morphology, Anisocytosis, Anemia, Increased mean corpuscular volume, Poikilo... ORPHA:98870
Rh-Null, Regulator Type
Hemolytic anemia, Stomatocytosis OMIM:268150
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Anemia of inadequate production, Anemia, Splenomegaly OMIM:612714
Lowry-Maclean Syndrome
Inguinal hernia, Congenital diaphragmatic hernia ORPHA:2409
Developmental Delay With Or Without Dysmorphic Facies And Autism
Inguinal hernia, Patent ductus arteriosus, Umbilical hernia, Congenital diaphragmatic hernia OMIM:618454
Fetal Alcohol Syndrome
Congenital diaphragmatic hernia ORPHA:1915
Autosomal Recessive Spondylocostal Dysostosis
Camptodactyly of finger, Inguinal hernia, Umbilical hernia, Congenital diaphragmatic hernia ORPHA:2311
Stormorken Syndrome
Thrombocytopenia, Asplenia, Howell-Jolly bodies, Anemia OMIM:185070
Intellectual Disability-Strabismus Syndrome
Congenital finger flexion contractures, Patent ductus arteriosus, Achilles tendon contracture, Jo... ORPHA:363528
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Congenital diaphragmatic hernia OMIM:618022
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Thrombocytopenia, Neutropenia, Anemia, Splenomegaly ORPHA:79312
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Reduced natural killer cell count, Thrombocytopenia, Anemia, Splenomegaly OMIM:616050
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Hypothyroidism, Neutropenia, Lymph... OMIM:304790
Wiskott-Aldrich Syndrome
Hemolytic anemia, Chronic leukemia, Microcytic anemia, Lymphopenia, Neutropenia, Hypoplasia of th... ORPHA:906
Oculocerebrocutaneous Syndrome
Congenital diaphragmatic hernia ORPHA:1647
Vitamin B12-Unresponsive Methylmalonic Acidemia
Thrombocytopenia, Anemia, Leukopenia, Macrocytic anemia ORPHA:27
Ollier Disease
Lymphangioma, Precocious puberty, Anemia ORPHA:296
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Enamel hypoplasia, Increased connective tissue, Muscular dystrophy, Scarring alopecia of scalp, A... OMIM:226670
8P23.1 Microdeletion Syndrome
Patent ductus arteriosus, Congenital diaphragmatic hernia ORPHA:251071
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Hashimoto thyroiditis, Hypoplasia of the thymus, Type I diabetes mel... ORPHA:436252
Infantile Liver Failure Syndrome 1
Anemia, Macrocytic anemia OMIM:615438
Genitopalatocardiac Syndrome
Congenital diaphragmatic hernia ORPHA:2075
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Extramedullary hematopoiesi... ORPHA:822
Osteopetrosis, Autosomal Recessive 2
Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Anemia, Hepatosplenomegaly OMIM:259710
Tufted Angioma
Thrombocytopenia, Anemia ORPHA:1063
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Neutropenia, Anemia OMIM:617056
Coach Syndrome 3
Anemia OMIM:619113
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Pyrimidine-responsive megalo... OMIM:258900
Focal Dermal Hypoplasia
Camptodactyly of finger, Diastasis recti, Abnormal dental enamel morphology, Patent ductus arteri... ORPHA:2092
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:263400
Retinitis Pigmentosa And Erythrocytic Microcytosis
Elliptocytosis, Anisocytosis, Anemia, Decreased mean corpuscular volume, Poikilocytosis OMIM:616959
Congenital Heart Defects And Skeletal Malformations Syndrome
Camptodactyly, Congenital diaphragmatic hernia OMIM:617602
Pentalogy Of Cantrell
Polysplenia, Omphalocele, Congenital diaphragmatic hernia ORPHA:1335
2Q37 Microdeletion Syndrome
Umbilical hernia, Congenital diaphragmatic hernia ORPHA:1001
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Thrombocytopenia, Neutropenia, Anemia ORPHA:289916
Osteopetrosis With Renal Tubular Acidosis
Thrombocytopenia, Anemia, Splenomegaly ORPHA:2785
Letterer-Siwe Disease
Thrombocytopenia, Hepatosplenomegaly, Neutropenia, Anemia OMIM:246400
Familial Benign Copper Deficiency
Anemia ORPHA:1551
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612926
Desmoplastic Small Round Cell Tumor
Ovarian neoplasm, Anemia, Testicular neoplasm, Mediastinal lymphadenopathy, Neoplasm of the pancr... ORPHA:83469
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:266120
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Anemia OMIM:618838
Multiple Pterygium Syndrome, Escobar Variant
Arthrogryposis multiplex congenita, Camptodactyly of toe, Diaphragmatic eventration, Umbilical he... OMIM:265000
Developmental And Epileptic Encephalopathy 50
Anisopoikilocytosis, Schistocytosis, Anemia, Acanthocytosis OMIM:616457
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Anemia, Splenomegaly, D... OMIM:259720
Copper Deficiency, Familial Benign
Anemia OMIM:121270
Mosaic Trisomy 1
Camptodactyly of finger, Elbow flexion contracture, Omphalocele, Congenital diaphragmatic hernia ORPHA:1692
Syndromic Diarrhea
Thrombocytosis, Hypothyroidism, Lymphopenia, Increased mean platelet volume, Hypoplasia of the th... ORPHA:84064
Pseudo-Torch Syndrome 3
Lymphadenitis, Congenital thrombocytopenia, Anemia, Leukocytosis OMIM:618886
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Anemia ORPHA:3405
Czeizel-Losonci Syndrome
Aplasia of the left hemidiaphragm, Posterolateral diaphragmatic hernia ORPHA:2437
Vacterl/Vater Association
Omphalocele, Congenital diaphragmatic hernia ORPHA:887
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Neonatal death, Anemia OMIM:618835
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Leukocytosis, Neutropenia, Pancytopenia, Thrombocytopen... ORPHA:98850
Seckel Syndrome 9
Congenital diaphragmatic hernia OMIM:616777
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Neonatal death, Anemia OMIM:618839
White-Sutton Syndrome
Ventral hernia, Inguinal hernia, Facial hypotonia, Congenital diaphragmatic hernia ORPHA:468678
Proximal 16P11.2 Microdeletion Syndrome
Congenital diaphragmatic hernia ORPHA:261197
Omenn Syndrome
Leukocytosis, Thyroiditis, Abnormal lymphocyte morphology, Hypothyroidism, Lymphadenopathy, Anemi... ORPHA:39041
Neonatal Lupus Erythematosus
Hemolytic anemia, Neutropenia, Pancytopenia, Thrombocytopenia, Aplastic anemia, Anemia, Splenomegaly ORPHA:398124
Aceruloplasminemia
Diabetes mellitus, Anemia OMIM:604290
Anemia, Congenital Dyserythropoietic, Type Iii
Congenital hypoplastic anemia, Macrocytic anemia, Anemia of inadequate production OMIM:105600
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia ORPHA:958
Pagod Syndrome
Abnormality of the spleen, Death in infancy, Omphalocele, Congenital diaphragmatic hernia ORPHA:991
Thakker-Donnai Syndrome
Congenital diaphragmatic hernia ORPHA:1780
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Patent ductus arteriosus, Congenital diaphragmatic hernia OMIM:614080
Gaucher Disease, Type I
Pancytopenia, Thrombocytopenia, Splenomegaly, Hypersplenism, Anemia OMIM:230800
Meacham Syndrome
Abnormality of the spleen, Patent ductus arteriosus, Congenital diaphragmatic hernia ORPHA:3097
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Vacuolated lymphocytes, Thrombocytopenia, Adrenal insufficiency, Splenome... OMIM:278000
Denys-Drash Syndrome
Congenital diaphragmatic hernia OMIM:194080
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Thrombocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia OMIM:614520
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital diaphragmatic hernia OMIM:611812
7Q11.23 Microduplication Syndrome
Inguinal hernia, Patent ductus arteriosus, Congenital diaphragmatic hernia ORPHA:96121
Trisomy 18
Camptodactyly of finger, Hernia, Omphalocele, Congenital diaphragmatic hernia ORPHA:3380
Aymé-Gripp Syndrome
Camptodactyly, Patent ductus arteriosus, Inguinal hernia, Congenital diaphragmatic hernia ORPHA:1272
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Inguinal hernia, Elbow flexion contracture, Left ventricular hypertrophy, Congenital diaphragmati... OMIM:245600
Fryns Syndrome
Omphalocele, Congenital diaphragmatic hernia ORPHA:2059
Craniofrontonasal Syndrome
Umbilical hernia, Congenital diaphragmatic hernia OMIM:304110
Fetal Encasement Syndrome
Omphalocele, Congenital diaphragmatic hernia OMIM:613630
Simpson-Golabi-Behmel Syndrome
Camptodactyly of finger, Macroglossia, Polysplenia, Death in infancy, Omphalocele, Umbilical hern... ORPHA:373
Bazex Syndrome
Anemia ORPHA:166113
Cornelia De Lange Syndrome 1
Hiatus hernia, Thrombocytopenia, Inguinal hernia, Congenital diaphragmatic hernia, Elbow flexion ... OMIM:122470
Tempi Syndrome
Polycythemia, Increased hematocrit ORPHA:284227
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Thrombocytopenia, Anemia, Leukopenia, Diabetes mellitus OMIM:613845
Perlman Syndrome
Hypoplasia of the abdominal wall musculature, Congenital diaphragmatic hernia OMIM:267000
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Congenital diaphragmatic hernia OMIM:616546
Lymphatic Malformation 7
Anemia OMIM:617300
Nephronophthisis 4
Anemia OMIM:606966
Holoprosencephaly
Abnormality of the spleen, Omphalocele, Congenital diaphragmatic hernia ORPHA:2162
Eec Syndrome
Hypoplasia of the thymus, Anterior hypopituitarism, Decreased response to growth hormone stimuati... ORPHA:1896
Oligomeganephronia
Congenital diaphragmatic hernia ORPHA:2260
Mycophenolate Mofetil Embryopathy
Congenital diaphragmatic hernia ORPHA:268249
Opitz Gbbb Syndrome
Patent ductus arteriosus, Omphalocele, Umbilical hernia, Inguinal hernia, Congenital diaphragmati... ORPHA:2745
Treacher-Collins Syndrome
Hypoplasia of the thymus, Cryptorchidism, Thyroid hypoplasia, Abnormality of the adrenal glands ORPHA:861
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Impaired neutrophil bactericidal activity, Neutropenia... OMIM:214500
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Thrombocytopenia, Anemia, Splenomegaly, Lymphadenopathy OMIM:617591
Hereditary Orotic Aciduria
Anemia, Splenomegaly ORPHA:30
Methylmalonic Aciduria, Cblb Type
Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:251110
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia OMIM:259730
Icf Syndrome
Abnormality of neutrophils, Lymphopenia, Anemia ORPHA:2268
Neutrophilic Dermatosis, Acute Febrile
Anemia OMIM:608068
Hoyeraal-Hreidarsson Syndrome
Thrombocytopenia, Abnormal leukocyte morphology, Bone marrow hypocellularity, Anemia ORPHA:3322
Heart Defects, Congenital, And Other Congenital Anomalies
Aplasia of the left hemidiaphragm, Patent ductus arteriosus, Umbilical hernia, Inguinal hernia, C... OMIM:600001
Beckwith-Wiedemann Syndrome
Diastasis recti, Macroglossia, Polycythemia, Omphalocele, Umbilical hernia, Leiomyosarcoma, Ingui... ORPHA:116
22Q11.2 Deletion Syndrome
Cryptorchidism, Hypothyroidism, Cholelithiasis, Thrombocytopenia, Hypoplasia of the thymus, Splen... ORPHA:567
Diets-Jongmans Syndrome
Inguinal hernia, Umbilical hernia, Congenital diaphragmatic hernia OMIM:618846
Monosomy 22
Hypochromic microcytic anemia, Aplasia of the thymus, Hepatosplenomegaly ORPHA:96123
Iniencephaly
Arthrogryposis multiplex congenita, Omphalocele, Congenital diaphragmatic hernia ORPHA:63259
Proteus-Like Syndrome
Thymus hyperplasia, Abnormality of the parathyroid gland, Splenomegaly, Polycystic ovaries ORPHA:2969
Acrorenal-Mandibular Syndrome
Elbow flexion contracture, Congenital diaphragmatic hernia OMIM:200980
Fanconi Anemia, Complementation Group P
Pancytopenia, Cryptorchidism, Anemia OMIM:613951
Dyskeratosis Congenita, Autosomal Dominant 1
Lymphopenia, Thrombocytopenia, Aplastic anemia, Anemia, Bone marrow hypocellularity OMIM:127550
Carney Triad
Adrenocortical adenoma, Pheochromocytoma, Adrenal overactivity, Paraganglioma, Anemia, Mediastina... ORPHA:139411
Linear Skin Defects With Multiple Congenital Anomalies 1
Congenital diaphragmatic hernia OMIM:309801
Fanconi Anemia, Complementation Group E
Cryptorchidism, Hypergonadotropic hypogonadism, Neutropenia, Reticulocytopenia, Pancytopenia, Thr... OMIM:600901
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Neutropenia, Reticulocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Leukope... ORPHA:508542
Castleman Disease
Generalized lymphadenopathy, Follicular hyperplasia, Thrombocytopenia, Anemia, Mediastinal lympha... ORPHA:160
Monosomy 9P
Hernia, Congenital diaphragmatic hernia ORPHA:261112
Fanconi Anemia, Complementation Group A
Cryptorchidism, Hypergonadotropic hypogonadism, Neutropenia, Reticulocytopenia, Pancytopenia, Thr... OMIM:227650
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemia ORPHA:329971
Smith-Lemli-Opitz Syndrome
Abnormal dental enamel morphology, Patent ductus arteriosus, Congenital diaphragmatic hernia ORPHA:818
C Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Death in infancy, Omphalocele, Congenital d... ORPHA:1308
Nephronophthisis 1
Anemia OMIM:256100
Malt Lymphoma
Mediastinal lymphadenopathy, Abnormality of the thyroid gland, Anemia, Lymphadenopathy ORPHA:52417
Arteriosclerosis, Severe Juvenile
Delayed puberty, Anemia OMIM:208060
Poland Syndrome
Acute leukemia, Aplasia of the pectoralis major muscle, Absence of subcutaneous fat, Congenital d... ORPHA:2911
Wolf-Hirschhorn Syndrome
Hernia, Congenital diaphragmatic hernia ORPHA:280
Hyperparathyroidism, Neonatal Severe
Elevated circulating parathyroid hormone level, Primary hyperparathyroidism, Anemia, Splenomegaly OMIM:239200
Tangier Disease
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Thrombocytopenia, Anemia, Hepat... ORPHA:31150
Kabuki Syndrome
Congenital diaphragmatic hernia ORPHA:2322
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Congenital diaphragmatic hernia OMIM:617641
Sandifer Syndrome
Anemia ORPHA:71272
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hernia, Patent ductus arteriosus, Umbilical hernia, Congenital diaphragmatic hernia ORPHA:2255
Cutis Laxa, Autosomal Recessive, Type Ib
Inguinal hernia, Congenital diaphragmatic hernia OMIM:614437
Simpson-Golabi-Behmel Syndrome, Type 1
Macroglossia, Diastasis recti, Polysplenia, Patent ductus arteriosus, Umbilical hernia, Inguinal ... OMIM:312870
Kasabach-Merritt Syndrome
Microangiopathic hemolytic anemia, Reticulocytosis, Abnormal lymphatic vessel morphology, Neutrop... ORPHA:2330
Interstitial Lung And Liver Disease
Hypothyroidism, Anemia OMIM:615486
Distal Monosomy 15Q
Patent ductus arteriosus, Congenital diaphragmatic hernia ORPHA:1596
Focal Dermal Hypoplasia
Enamel hypoplasia, Hiatus hernia, Diastasis recti, Omphalocele, Umbilical hernia, Inguinal hernia... OMIM:305600
Witteveen-Kolk Syndrome
Inguinal hernia, Congenital diaphragmatic hernia OMIM:613406
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Microphthalmia With Linear Skin Defects Syndrome
Abnormal dental enamel morphology, Congenital diaphragmatic hernia ORPHA:2556
Nephronophthisis 11
Anemia OMIM:613550
Coffin-Siris Syndrome 1
Inguinal hernia, Patent ductus arteriosus, Umbilical hernia, Congenital diaphragmatic hernia OMIM:135900
Pseudoaminopterin Syndrome
Inguinal hernia, Asplenia, Posterolateral diaphragmatic hernia ORPHA:221120
Limb Body Wall Complex
Ventral hernia, Diastasis recti, Congenital diaphragmatic hernia ORPHA:2369
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Anemia ORPHA:935
Truncus Arteriosus
Hypoplasia of the thymus, Adrenocortical abnormality ORPHA:3384
Fryns Syndrome
Stillbirth, Aplasia of the left hemidiaphragm, Camptodactyly, Polysplenia, Omphalocele, Joint con... OMIM:229850
Cogan Syndrome
Leukocytosis, Thrombocytosis, Anemia ORPHA:1467
Juvenile Polyposis Syndrome
Anemia OMIM:174900
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Camptodactyly, Contracture of the proximal interphalangeal joint of the 3rd finger, Congenital di... OMIM:301044
Pallister-Killian Syndrome
Macroglossia, Stillbirth, Flexion contracture, Patent ductus arteriosus, Omphalocele, Umbilical h... OMIM:601803
Cornelia De Lange Syndrome
Congenital diaphragmatic hernia ORPHA:199
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Agenesis of the diaphragm OMIM:601027
Hydrolethalus Syndrome 1
Omphalocele, Accessory spleen, Agenesis of the diaphragm, Stillbirth OMIM:236680
Proteus Syndrome
Ovarian neoplasm, Macroorchidism, Neoplasm of the thymus, Splenomegaly, Testicular neoplasm, Thym... ORPHA:744

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 Dnase2a

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 Dnase2a.

No publications found that use IMPC mice or data for Dnase2a.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Dnase2atm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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