Gene Summary

Name:
integrin alpha E, epithelial-associated
Synonyms:
CD103,  alpha-E1

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased leukocyte cell number Itgaetm1b(EUCOMM)Wtsi HOM Early adult 2.59×10-09
decreased monocyte cell number Itgaetm1b(EUCOMM)Wtsi HOM Early adult 3.74×10-06
decreased neutrophil cell number Itgaetm1b(EUCOMM)Wtsi HOM Early adult 1.98×10-07
decreased lean body mass Itgaetm1b(EUCOMM)Wtsi HOM Early adult 2.14×10-07
decreased large unstained cell number Itgaetm1b(EUCOMM)Wtsi HOM Early adult 3.30×10-06
decreased lymphocyte cell number Itgaetm1b(EUCOMM)Wtsi HOM Early adult 7.50×10-08

Download data as:  TSV  XLS

Select physiological systems to view:
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Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lymph node  Wholemount images heterozygote 100% (2 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 50% (1 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 585)
oral epithelium 0.0%
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Echo

M-Mode Images

32 Images

Adult LacZ

LacZ Images Wholemount

5 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Immunophenotyping

Panel A FCS file(s)

8 Images

Immunophenotyping

Panel B FCS file(s)

8 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

Human diseases caused by Itgae 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 Itgae by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 40
Lymphopenia OMIM:616433
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Immunodeficiency 8
Lymphopenia OMIM:615401
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Immunodeficiency 21
Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... OMIM:614172
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Immunodeficiency 19
Failure to thrive, Lymphopenia OMIM:615617
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Neutropenia, Lymphopenia OMIM:614868
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Failure to thrive, Neutropenia OMIM:616022
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia OMIM:615214
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Leukopenia, Failure to thrive, Anemia, Splenomegaly, Extramedullary hematopoiesis, T... OMIM:615285
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Adult Idiopathic Neutropenia
Monocytopenia, Neutropenia, Lymphopenia, Monocytosis ORPHA:2688
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Myelolymphatic Insufficiency
Hyposegmentation of neutrophil nuclei, Leukopenia OMIM:310350
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... OMIM:202700
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Agammaglobulinemia 3, Autosomal Recessive
Failure to thrive, Neutropenia OMIM:613501
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Lymphopenia OMIM:247630
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Neutropenia, Leukopenia, Abnormally low T cell receptor excision circle level,... OMIM:618986
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Congenital agranulocytosis, Leukopenia OMIM:267500
Ras-Associated Autoimmune Leukoproliferative Disorder
Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymphocytosis, Pan... OMIM:614470
Fanconi Anemia, Complementation Group G
Leukemia, Thrombocytopenia, Neutropenia, Anemia OMIM:614082
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... OMIM:619041
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Immunodeficiency 24
Decreased CD4:CD8 ratio, Reduced proportion of mucosal-associated invariant T cells, Lymphopenia,... OMIM:615897
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Transcobalamin Deficiency
Pancytopenia, Thrombocytopenia, Neutropenia, Lymphopenia ORPHA:859
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia OMIM:167850
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia OMIM:247800
Agammaglobulinemia 4, Autosomal Recessive
Neutropenia OMIM:613502
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Refractory anemia, Acute myeloid leukemia, Leukopenia, Monocytosis OMIM:616871
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Immunodeficiency 46
Anemia, Neutropenia, Failure to thrive, Intermittent thrombocytopenia OMIM:616740
3-Methylglutaconic Aciduria, Type Vii
Neutropenia OMIM:616271
Refractory Anemia
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Erythroid hypoplasia, Thr... ORPHA:98826
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Absent neutrophil specific granules, Increased neutrophil mitochon... OMIM:245480
Diamond-Blackfan Anemia 4
Macrocytic anemia, Neutropenia, Reticulocytopenia, Erythroid hypoplasia OMIM:612527
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto... OMIM:159550
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... ORPHA:75564
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Cernunnos-Xlf Deficiency
B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia ORPHA:169079
Hemophagocytic Lymphohistiocytosis, Familial, 4
Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis OMIM:603552
Diamond-Blackfan Anemia 8
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612563
Folate Malabsorption, Hereditary
Neutropenia, Leukopenia, Failure to thrive, Thrombocytopenia, Folate-responsive megaloblastic anemia OMIM:229050
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Abscess, Splenomegaly, Intermittent throm... OMIM:150550
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... ORPHA:231154
Immunodeficiency 13
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD... OMIM:615518
Immunodeficiency 76
B lymphocytopenia, T lymphocytopenia, Lymphopenia, Splenomegaly OMIM:619164
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Hemochromatosis, Type 3
Anemia, Neutropenia, Lymphopenia OMIM:604250
Immunodeficiency 55
Neutropenia OMIM:617827
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Acute Erythroid Leukemia
Pancytopenia, Anemia, Leukopenia, Erythroid hypoplasia ORPHA:318
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Neutrophilia OMIM:619281
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia OMIM:606843
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Failure to thrive, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly,... ORPHA:169154
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Whim Syndrome 1
Neutropenia OMIM:193670
Wolfram Syndrome, Mitochondrial Form
Thrombocytopenia, Megaloblastic anemia, Neutropenia, Sideroblastic anemia OMIM:598500
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic anemia, Autoimmune hemolytic an... ORPHA:444463
Immunodeficiency 52
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Failure to thrive,... OMIM:617514
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Splenomegaly OMIM:608971
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Agammaglobulinemia 1, Autosomal Recessive
Failure to thrive, B lymphocytopenia, Neutropenia OMIM:601495
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Immunodeficiency 67
Transient neutropenia, Liver abscess OMIM:607676
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Neutropenia, Congenital thrombocytopenia OMIM:616738
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:312863
Slc35A1-Cdg
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia ORPHA:238459
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Splenomegaly, Lymphocytosis, Pancytopenia, Thrombocytopenia, Aplastic anemia, Hemoph... OMIM:308240
Barth Syndrome
Failure to thrive, Granulocytopenia, Neutropenia OMIM:302060
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Increased proportion of transitional B cells, Decreased proportion of class-sw... OMIM:615513
Autosomal Dominant Severe Congenital Neutropenia
Acute lymphoblastic leukemia, Neutropenia, Monocytosis, Leukemia, Acute myeloid leukemia, Lymphop... ORPHA:486
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Anemia, Splenomegaly, Acute myeloid leukemia, Hepatosp... ORPHA:158057
Idiopathic Aplastic Anemia
Neutropenia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia ORPHA:88
Retinal Venous Beading
Neutropenia OMIM:180080
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia ORPHA:2643
3-Methylglutaconic Aciduria, Type Viii
Neutropenia OMIM:617248
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia i... OMIM:619220
Specific Granule Deficiency 2
Neutropenia, Absent neutrophil specific granules, Failure to thrive, Anemia, Thrombocytopenia OMIM:617475
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Neutropenia OMIM:617056
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Failure to thrive, Anemia, Splenomegaly, Thrombocytopenia ORPHA:79312
Developmental And Epileptic Encephalopathy 66
Anemia, Neutropenia OMIM:618067
Imerslund-Gräsbeck Syndrome
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... ORPHA:35858
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Neutropenia OMIM:600351
Immunodeficiency 68
B lymphocytopenia, Abscess, T lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Pelger-Huet Anomaly
Neutropenia, Failure to thrive, Hyposegmentation of neutrophil nuclei, Giant platelets, Thrombocy... OMIM:169400
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia OMIM:251190
Griscelli Syndrome Type 2
Pancytopenia, Hemophagocytosis, Neutropenia, Splenomegaly ORPHA:79477
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Microcytic anemia, Neutropenia OMIM:251900
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neutropenia, Leukopenia, Monocytosis, Failure to thrive, Hypoplasia of the thymus, Anemia, Erythr... OMIM:612541
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Thrombocytopenia, Neutropenia ORPHA:289916
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Failur... ORPHA:572
Poikiloderma With Neutropenia
Neutropenia, Splenomegaly OMIM:604173
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Weight loss, Anemia, Abnormal mast cell mo... ORPHA:98850
Aregenerative Anemia
Neutropenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Decreased proport... ORPHA:101096
Onychotrichodysplasia And Neutropenia
Chronic neutropenia, Lymphocytosis, Neutropenia OMIM:258360
Diamond-Blackfan Anemia 11
Anemia, Neutropenia, Anemia of inadequate production OMIM:614900
Lichtenstein Syndrome
Neutropenia OMIM:246550
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Failure to thrive, B lymphocytopenia, T lymphocytopenia, Lymphopenia ORPHA:277
Sebastian syndrome
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:605249
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, T lymphocytopenia OMIM:601457
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... OMIM:601859
Transcobalamin Ii Deficiency
Macrocytic anemia, Neutropenia, Failure to thrive, Reticulocytopenia, Pancytopenia OMIM:275350
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Leukopenia OMIM:614171
Congenital Disorder Of Glycosylation, Type Iif
Thrombocytopenia, Macrothrombocytopenia, Neutropenia OMIM:603585
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Thrombocytosis, Macrocytic anemia, Leukopenia, Erythroid hypoplasia, Acute myeloid leukemia, Anis... ORPHA:86841
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Decreased proportion of class-switched memory B cells, Splenomegaly, Neutropen... OMIM:607594
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Neutropenia, Failure to thrive, Anemia, Large for gestational age, Thrombocytopenia OMIM:614520
Holoprosencephaly, Recurrent Infections, And Monocytosis
Failure to thrive, Monocytosis OMIM:610680
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Neutropenia, Coombs-positive hemolytic anemia, Failure to thrive, Anemia, Autoimmune thrombocytop... OMIM:304790
Letterer-Siwe Disease
Anemia, Thrombocytopenia, Hepatosplenomegaly, Neutropenia OMIM:246400
Macrocephaly/Autism Syndrome
Obesity, Lymphopenia, Splenomegaly OMIM:605309
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
Macrophage Activation Syndrome
Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis, Abnormal natural killer ce... ORPHA:158061
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Reduced natural killer cell count, T lymphocytopenia, Perianal abscess OMIM:618108
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Macrocytic anemia, Megaloblastic anemia, Lymphopenia, Pancytopenia, Anemia of ina... OMIM:617780
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Anemia, Thrombocytopenia, Neutropenia OMIM:614857
Lymphangiectasia, Intestinal
Lymphopenia OMIM:152800
Cyclic Neutropenia
Perianal abscess, Lymphopenia, Cyclic neutropenia, Thrombocytopenia, Tooth abscess, Decreased eos... ORPHA:2686
Acute Promyelocytic Leukemia
Leukocytosis, Neutropenia, Leukopenia, Weight loss, Anemia, Pancytopenia, Thrombocytopenia ORPHA:520
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... ORPHA:443811
Autoinflammatory Syndrome, Familial, Behcet-Like
Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
Diamond-Blackfan Anemia 5
Macrocytic anemia, Reticulocytopenia, Leukopenia, Erythroid hypoplasia OMIM:612528
Congenital Enterovirus Infection
Leukocytosis, Neutropenia, Leukopenia, Anemia, Abnormal macrophage morphology, Thrombocytopenia ORPHA:292
Neonatal Lupus Erythematosus
Hemolytic anemia, Neutropenia, Anemia, Splenomegaly, Pancytopenia, Thrombocytopenia, Aplastic anemia ORPHA:398124
Immunodeficiency 31C
Lymphopenia, Autoimmune hemolytic anemia OMIM:614162
Methylmalonic Aciduria, Cblb Type
Neutropenia, Failure to thrive, Anemia, Pancytopenia, Thrombocytopenia OMIM:251110
X-Linked Agammaglobulinemia
Neutropenia, Recurrent cutaneous abscess formation, Failure to thrive, Weight loss, Anemia, Throm... ORPHA:47
Cohen Syndrome
Small for gestational age, Neutropenia, Childhood-onset truncal obesity, Leukopenia OMIM:216550
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Immunodeficiency 91 And Hyperinflammation
Monocytosis, Failure to thrive, Neutrophilia, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis OMIM:619644
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Neutropenia, Anemia, Lymphopenia, Thrombocytopenia OMIM:242900
Felty Syndrome
Neutropenia, Weight loss, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Thrombocytopenia ORPHA:47612
Immunodeficiency 85 And Autoimmunity
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Lymphopen... OMIM:619510
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Failure to thrive, Neutropenia OMIM:608809
Chediak-Higashi Syndrome
Neutropenia, Leukopenia, Abnormal dense granules, Giant neutrophil granules, Anemia, Splenomegaly... OMIM:214500
Evans Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... ORPHA:1959
Methylmalonic Aciduria, Cbla Type
Neutropenia, Failure to thrive, Anemia, Pancytopenia, Thrombocytopenia OMIM:251100
Autosomal Agammaglobulinemia
Failure to thrive, Neutropenia ORPHA:33110
Propionic Acidemia
Neutropenia, Failure to thrive, Anemia, Pancytopenia, Thrombocytopenia OMIM:606054
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Neutropenia, Failure to thrive, Megaloblastic anemia, Pancytopenia, Thrombocytopenia OMIM:277380
Cartilage-Hair Hypoplasia
Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Neutropenia, Conge... OMIM:250250
Hemophagocytic Syndrome Associated With An Infection
Neutropenia, Anemia, Splenomegaly, Abnormal T cell subset distribution, Pancytopenia, Thrombocyto... ORPHA:158048
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume, Failure to thrive, Pancytopenia ORPHA:2169
Necrotizing Enterocolitis
Leukocytosis, Neutropenia, Thrombocytopenia, Small for gestational age ORPHA:391673
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
B lymphocytopenia, Neutropenia, Leukopenia, Anemia, Lymphopenia, Reticulocytopenia, Thrombocytopenia ORPHA:508542
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, Lymphop... OMIM:242700
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Immunodeficiency 36
Chronic lymphatic leukemia, Lymphopenia, Splenomegaly OMIM:616005
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:603909
Shwachman-Diamond Syndrome 1
Neutropenia, Small for gestational age, Failure to thrive, Anemia, Persistence of hemoglobin F, A... OMIM:260400
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Thrombocytopenia, Leukopenia OMIM:231095
Bare Lymphocyte Syndrome, Type Ii
Failure to thrive, Neutropenia OMIM:209920
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia ORPHA:1116
Immunodeficiency 23
Neutropenia, Failure to thrive, Abscess, Lymphopenia, Eosinophilia, Hemolytic anemia OMIM:615816
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Acute leukemia, Weight loss, Splenomegaly, Myeloproliferative disorder, Thrombocyto... ORPHA:3226
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Fa... OMIM:614700
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Neutropenia, Small for gestational age, Failure to thr... ORPHA:1830
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Hypoplasia of the ... OMIM:300400
Fanconi Anemia, Complementation Group E
Neutropenia, Small for gestational age, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thromb... OMIM:600901
Immunodeficiency With Hyper-Igm, Type 1
Neutropenia, Failure to thrive, Splenomegaly, Thrombocytopenia, Hemolytic anemia OMIM:308230
Neonatal Alloimmune Neutropenia
Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
Noonan Syndrome 12
Thrombocytopenia, Lymphopenia OMIM:618624
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, T lymphocytopenia ORPHA:217390
Hermansky-Pudlak Syndrome 2
Neutropenia, Enlarged platelet dense granules, Absent platelet dense granules, Splenomegaly, Redu... OMIM:608233
Fanconi Anemia, Complementation Group A
Neutropenia, Small for gestational age, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thromb... OMIM:227650
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Failure to thrive, Decreased proportion of CD3-positive T cells, Hepatospl... ORPHA:331206
Immunodeficiency 22
Decreased proportion of CD4-positive helper T cells OMIM:615758
Fanconi Anemia, Complementation Group I
Decreased body weight, Neutropenia OMIM:609053
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Absent natural kil... OMIM:600802
Shwachman-Diamond Syndrome
Chronic neutropenia, Macrocytic anemia, Neutropenia, Normocytic anemia, Leukopenia, Increased mea... ORPHA:811
Methylmalonic Acidemia With Homocystinuria Type Cblf
Failure to thrive, Megaloblastic anemia, Neutropenia ORPHA:79284
Familial Hemophagocytic Lymphohistiocytosis
Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis ORPHA:540
Shwachman-Diamond Syndrome 2
Failure to thrive, Thrombocytopenia, Normocytic anemia, Neutropenia OMIM:617941
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Weight loss, Anemia, Neutrophilia, Liver abscess ORPHA:54251
Wolcott-Rallison Syndrome
Iron deficiency anemia, Decreased body weight, Lymphocytosis, Neutropenia ORPHA:1667
Kasabach-Merritt Syndrome
Neutropenia, Leukopenia, Microangiopathic hemolytic anemia, Anemia, Reticulocytosis, Thrombocytop... ORPHA:2330
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Failure to thrive secondary to recurrent infections, Decreased proportion of CD3-positive T cells... ORPHA:169160
Mucopolysaccharidosis-Plus Syndrome
Neutropenia, Leukopenia, Anemia, Splenomegaly, Thrombocytopenia OMIM:617303
3-Methylglutaconic Aciduria Type 7
Infection associated neutropenia, Neutropenia ORPHA:445038
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Failure to thrive, Pure red cell aplasia, S... OMIM:613179
Hermansky-Pudlak Syndrome 10
Neutropenia, Splenomegaly OMIM:617050
Aspergillosis
Eosinophilia, Neutropenia ORPHA:1163
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Failure to thrive, Neutropenia, Small for gestational age OMIM:615471
Diamond-Blackfan Anemia 7
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612562
Sepsis In Premature Infants
Leukocytosis, Neutropenia, Small for gestational age, Anemia, Splenomegaly, Thrombocytopenia, Dec... ORPHA:90051
Fanconi Anemia, Complementation Group C
Neutropenia, Small for gestational age, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thromb... OMIM:227645
Immunodeficiency 49
Eosinophilia, Lymphopenia OMIM:617237
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Failure to thrive, Neutropenia OMIM:618005
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Failure to thrive, Decreased proportion of CD3-positive T ... ORPHA:276
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia OMIM:610163
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmune thrombocytopenia, T lymphocytopenia, Neutropenia, Lymphopenia OMIM:607944
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Decreased proportion of CD3-positive T cells, Autoimmune thrombocytop... ORPHA:760
Fusariosis
Brain abscess, Abnormality of the spleen, Neutropenia, Lung abscess, Lymphopenia, Granuloma ORPHA:228119
Chédiak-Higashi Syndrome
Abnormal natural killer cell morphology, Neutropenia, Thrombocytopenia, Vacuolated lymphocytes, A... ORPHA:167
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo... ORPHA:98849
Ataxia-Telangiectasia
Failure to thrive, Lymphopenia ORPHA:100
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Failure to thrive in infancy, Neutrophilia, Increased proportion of CD4-positive T ... OMIM:617099
Whim Syndrome
Lymphopenia, Neutropenia, Abnormality of neutrophil morphology ORPHA:51636
Cryptogenic Organizing Pneumonia
Leukocytosis, Weight loss, Neutrophilia ORPHA:1302
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Failure to thrive, Thrombocytopenia, Megaloblastic anemia, Neutropenia OMIM:277400
Blackfan-Diamond Anemia
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... ORPHA:124
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Hepatosplenomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in pres... OMIM:615952
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:611926
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Failure to thrive, Reduced red cell adenosine deaminase level, Splenomegaly, A... OMIM:102700
Relapsing Fever
Leukocytosis, Leukopenia, Anemia, Neutrophilia, Thrombocytopenia ORPHA:91547
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia OMIM:614204
Icf Syndrome
Abnormality of neutrophils, Anemia, Lymphopenia ORPHA:2268
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Cachexia, Neutropenia, Neutropenia in presence of anti-neutropil an... ORPHA:37042
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Abscess, Splenomegaly, Perianal abscess, Hepatosplenomegaly, Impaired oxidative burst, Lymphopeni... OMIM:618935
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Splenomegaly OMIM:616100
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay
Anemia, Acute myeloid leukemia, Decreased body weight, Neutropenia OMIM:601347
Wiskott-Aldrich Syndrome
Neutropenia, Acute leukemia, Hypoplasia of the thymus, Chronic leukemia, Abnormal platelet morpho... ORPHA:906
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive ... ORPHA:35078
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, B lymphocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Hepato... OMIM:606367
Fanconi Anemia, Complementation Group D2
Neutropenia, Small for gestational age, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thromb... OMIM:227646
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Splenomegaly, Autoimmune thrombocytopenia, Decreased proportion of CD4-positi... OMIM:613011
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, T lymphocytopenia OMIM:242860
Cohen Syndrome
Obesity, Failure to thrive in infancy, Neutropenia ORPHA:193
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia ORPHA:391307
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Anemia, Hepatosplenomegaly, Decreased proportion of memory B cells, Pancytopenia, Thrombocytopeni... ORPHA:79124
Herpes Simplex Virus Encephalitis
Leukocytosis, Neutrophilia ORPHA:1930
Toxic Epidermal Necrolysis
Anemia, Thrombocytopenia, Weight loss, Neutropenia ORPHA:537
Glycogen Storage Disease Ib
Neutropenia OMIM:232220
Leigh Syndrome
Anemia, Neutropenia, Failure to thrive ORPHA:506
Rothmund-Thomson Syndrome
Neutropenia, Small for gestational age, Leukemia, Anemia, Aplastic anemia ORPHA:2909
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Leukopenia, Failure to thrive, Anemia, Lymphopenia OMIM:615934
Diamond-Blackfan Anemia 1
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Failure to thrive, Cong... OMIM:105650
Hermansky-Pudlak Syndrome
Weight loss, Neutropenia ORPHA:79430
Staphylococcal Necrotizing Pneumonia
Leukocytosis, Neutrophilia, Leukopenia ORPHA:36238
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Anemia, Splenomegaly, Lymphopenia, Thrombocytopenia OMIM:617591
Pediatric-Onset Graves Disease
Failure to thrive, Thrombocytopenia, Splenomegaly, Neutropenia in presence of anti-neutropil anti... ORPHA:525731
Rothmund-Thomson Syndrome Type 1
Neutropenia, Small for gestational age, Leukemia, Anemia, Aplastic anemia ORPHA:221008
Kikuchi-Fujimoto Disease
Neutropenia, Leukopenia, Weight loss, Anemia, Splenomegaly, Lymphocytosis, Thrombocytopenia ORPHA:50918
Pneumocystosis
Weight loss, Abnormal neutrophil count ORPHA:723
X-Linked Lymphoproliferative Disease
Increased B cell count, B lymphocytopenia, Increased T cell count, Splenomegaly, Absent natural k... ORPHA:2442
Adult-Onset Still Disease
Leukocytosis, Neutrophilia, Splenomegaly ORPHA:829
Ebola Hemorrhagic Fever
Thrombocytopenia, Lymphopenia, Leukopenia ORPHA:319218
Autoimmune Lymphoproliferative Syndrome
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... ORPHA:3261
Nephrotic Syndrome, Type 14
Lymphopenia OMIM:617575
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Failure to thrive, Thrombocytopenia, Megaloblastic anemia, Neutropenia ORPHA:79282
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Failure to thrive in infancy, Neutropenia in presence of anti-neutropil antibodies, Hypersplenism... ORPHA:228426
Trichothiodystrophy
Anemia, Neutropenia, Increased mean corpuscular hemoglobin concentration ORPHA:33364
Rothmund-Thomson Syndrome Type 2
Neutropenia, Small for gestational age, Leukemia, Anemia, Aplastic anemia ORPHA:221016
Primary Intestinal Lymphangiectasia
Weight loss, Anemia, Reduced proportion of CD4+ effector memory T cells, Decreased proportion of ... ORPHA:90362
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Neutropenia OMIM:271510
Cartilage-Hair Hypoplasia
Anemia, Neutropenia, Failure to thrive ORPHA:175
Popov-Chang syndrome
Failure to thrive, Lymphopenia OMIM:618428
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Neutrophilia, Abscess, Failure to thrive in infancy, Splenomegaly OMIM:612852
Mirage Syndrome
Leukopenia, Anemia, Lymphopenia, Thrombocytopenia, Decreased body weight, Hypoplastic spleen OMIM:617053
Pearson Syndrome
Neutropenia, Small for gestational age, Anemia, Splenomegaly, Reticulocytosis, Pancytopenia, Thro... ORPHA:699
Selective Igm Deficiency
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of transitional B cell... ORPHA:331235
X-Linked Intellectual Disability, Nascimento Type
Neutropenia, Recurrent cutaneous abscess formation ORPHA:163956
Ataxia-Telangiectasia
Leukemia, Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Lymphope... OMIM:208900
Dyskeratosis Congenita, Autosomal Dominant 1
Thrombocytopenia, Aplastic anemia, Anemia, Lymphopenia OMIM:127550
Common Variable Immunodeficiency
Failure to thrive in infancy, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic a... ORPHA:1572
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Lymphopenia OMIM:617425
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Chronic neutropenia, Transient neutropenia, Large for gestational age ORPHA:500095
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Anemia, Lymphopenia ORPHA:935
Pediatric Systemic Lupus Erythematosus
Thrombocytopenia, Leukopenia, Lymphopenia, Microangiopathic hemolytic anemia ORPHA:93552
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Hepatosplenomegaly, Auto... ORPHA:391487
Avian Influenza
Thrombocytopenia, Lymphopenia, Leukopenia ORPHA:454836
Sweet Syndrome
Leukocytosis, Chronic lymphatic leukemia, Sterile abscess, Anemia, Neutrophilia, Acute myeloid le... ORPHA:3243
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Chronic neutropenia, Abnormal myeloid leukocyte morphology, Anemia, Failure to thrive ORPHA:79259
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... OMIM:301000
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas... OMIM:600903
Progeria-Short Stature-Pigmented Nevi Syndrome
T lymphocytopenia, Microcytic anemia ORPHA:2959
Legionnaires Disease
Lymphopenia, Splenomegaly ORPHA:549
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hypereosinophilia, Decreased proportion of CD4-positive helper T cells, Decreased proportion of C... ORPHA:508533
Zygomycosis
Brain abscess, Splenic abscess, Neutropenia ORPHA:73263
Thymic Aplasia
Coombs-positive hemolytic anemia, Decreased proportion of naive T cells, T lymphocytopenia, Aplas... ORPHA:83471
Nijmegen Breakage Syndrome
B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Autoimmune hemolytic anemia OMIM:251260
Short Stature, Microcephaly, And Endocrine Dysfunction
Anemia, Lymphopenia, Truncal obesity OMIM:616541
Hyper-Igd Syndrome
Leukocytosis, Hepatosplenomegaly, Neutrophilia, Splenomegaly OMIM:260920
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukocytosis, Thrombocytosis, Leukopenia, Anemia, Splenomegaly, Hepatosplenomegaly, Lymphopenia, ... OMIM:615688
Aspartylglucosaminuria
Vacuolated lymphocytes, Neutropenia OMIM:208400
Lujo Hemorrhagic Fever
Leukocytosis, Lymphopenia, Leukopenia, Thrombocytopenia ORPHA:319213
Familial Mediterranean Fever
Leukocytosis, Neutrophilia, Splenomegaly OMIM:249100
Cowden Syndrome 1
Lymphopenia OMIM:158350
Sponastrime Dysplasia
Neutropenia, Small for gestational age ORPHA:93357
Leukocyte Adhesion Deficiency Type Ii
Leukocytosis, Small for gestational age, Failure to thrive, Anemia, Neutrophilia, Microcytic anemia ORPHA:99843
Syndromic Diarrhea
Thrombocytosis, Increased mean platelet volume, Small for gestational age, Hypoplasia of the thym... ORPHA:84064
Immunodeficiency 87 And Autoimmunity
Small for gestational age, Lymphopenia, Decreased proportion of CD4-positive T cells, Decreased C... OMIM:619573
Idiopathic Hypereosinophilic Syndrome
Leukocytosis, Thrombocytosis, Failure to thrive, Anemia, Splenomegaly, Myeloproliferative disorde... ORPHA:3260
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anemia, Neutropenia ORPHA:95455
Marburg Hemorrhagic Fever
Leukopenia, Neutrophilia in presence of infection, Abnormal lymphocyte morphology, Lymphopenia, R... ORPHA:99826
Primary Sjögren Syndrome
Normocytic anemia, Leukopenia, Normochromic anemia, Decreased proportion of CD4-positive helper T... ORPHA:289390
Cushing Disease
Leukocytosis, Truncal obesity, Abdominal obesity, Lymphopenia, Decreased eosinophil count, Increa... ORPHA:96253
Immunodeficiency 82 With Systemic Inflammation
B lymphocytopenia, Decreased proportion of naive T cells, Anemia, Splenomegaly, Reduced natural k... OMIM:619381
Secondary Intestinal Lymphangiectasia
Lymphopenia ORPHA:90363
Hennekam Syndrome
Lymphopenia, Splenomegaly ORPHA:2136
Crimean-Congo Hemorrhagic Fever
Leukocytosis, Leukopenia, Splenomegaly, Neutrophilia, Pancytopenia, Thrombocytopenia ORPHA:99827
Yellow Fever
Leukocytosis, Neutrophilia, Thrombocytopenia ORPHA:99829
Cushing Syndrome Due To Ectopic Acth Secretion
Leukocytosis, Weight loss, Truncal obesity, Abdominal obesity, Lymphopenia, Decreased eosinophil ... ORPHA:99889

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 Itgae

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 Itgae.

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

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MGI Allele Allele Type Produced
Itgaetm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Itgaetm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Itgaetm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Itgaetm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Itgaetm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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