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Gene: Xrcc5 MGI:104517

Registered for phenotyping at IMPC

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

Gene Summary

Name:

X-ray repair complementing defective repair in Chinese hamster cells 5

Synonyms:

Ku86, Ku80

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Xrcc5 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Xrcc5 (0 diseases)
Human diseases predicted to be associated with Xrcc5 (362 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Xrcc5 by phenotypic similarity.

Disease	Matching phenotypes	Source
Fraxf Syndrome	Folate-dependent fragile site at Xq28	ORPHA:100974
Immunodeficiency 79	Decreased proportion of CD4-positive T cells	OMIM:619238
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi...	OMIM:618204
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Immunodeficiency 18	Lymphopenia, Decreased proportion of CD3-positive T cells	OMIM:615615
Immunodeficiency 40	Lymphopenia	OMIM:616433
Combined Cellular And Humoral Immune Defects With Granulomas	B lymphocytopenia, T lymphocytopenia	OMIM:233650
Immunodeficiency 8	Lymphopenia	OMIM:615401
Combined Immunodeficiency, X-Linked	Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells	OMIM:312863
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia	OMIM:242870
Carbimazole Sensitivity	Drug-induced agranulocytosis	OMIM:212060
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Okt4 Epitope Deficiency	Abnormal T cell morphology	OMIM:613949
Cd8 Deficiency, Familial	Absence of CD8-positive T cells	OMIM:608957
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly	OMIM:269840
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, T lymphocytopenia	OMIM:618806
Immunodeficiency 19	Lymphopenia	OMIM:615617
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Decreased helper T cell proportion, T lymphocytopenia	OMIM:601705
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Cernunnos-Xlf Deficiency	Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia	ORPHA:169079
Reticular Dysgenesis	Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis	OMIM:267500
Immunodeficiency 24	Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Lymphopenia,...	OMIM:615897
Immunodeficiency 76	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Splenomegaly	OMIM:619164
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly	OMIM:183350
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Neutrophilia, Hereditary	Hepatosplenomegaly, Neutrophilia	OMIM:162830
Immunodeficiency 84	Perianal abscess, B lymphocytopenia, Splenomegaly	OMIM:619437
Diamond-Blackfan Anemia 18	Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia	OMIM:618310
Immunodeficiency 14A, Autosomal Dominant	Decreased proportion of class-switched memory B cells, Increased proportion of transitional B cel...	OMIM:615513
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations	Lymphopenia, Neutropenia	OMIM:614868
Immunodeficiency 105	Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf...	OMIM:619924
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Lymphopenia, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor excision circle ...	OMIM:602450
Immunodeficiency 13	Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Thrombocytopenia, Cyclic	Cyclic neutropenia, Thrombocytopenia, Neutropenia	OMIM:188020
Immunodeficiency 104	T lymphocytopenia, Splenomegaly	OMIM:608971
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, B lymphocytopenia	OMIM:618987
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n...	OMIM:212050
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Myelolymphatic Insufficiency	Leukopenia, Hyposegmentation of neutrophil nuclei	OMIM:310350
Agammaglobulinemia 8A, Autosomal Dominant	B lymphocytopenia	OMIM:616941
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells	OMIM:611926
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Immunodeficiency 42	Hypoplasia of the thymus	OMIM:616622
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy...	ORPHA:231154
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C...	OMIM:617241
Lymphoid System Deterioration, Progressive	Abnormal T cell morphology, Lymphopenia	OMIM:247630
Immunodeficiency 72 With Autoinflammation	Hepatosplenomegaly, Increased proportion of memory T cells, Increased B cell count	OMIM:618982
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp...	ORPHA:169154
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	B lymphocytopenia, T lymphocytopenia	OMIM:601457
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Cyclic Neutropenia	Cyclic neutropenia, Neutropenia	OMIM:162800
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormality of neutrophils, Abnormal macrophage morphology	ORPHA:2690
Whim Syndrome 2	Chronic neutropenia	OMIM:619407
Scleroderma, Familial Progressive	Chromosome breakage, Abnormality of chromosome stability	OMIM:181750
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lymphopenia, B lymphocytopenia, T lymphocytopenia	ORPHA:277
Immunodeficiency 97 With Autoinflammation	Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly...	OMIM:619802
Neutropenia, Severe Congenital, X-Linked	Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia	OMIM:300299
Immunodeficiency 68	Abscess, Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia	OMIM:612260
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased proportion of naive T cells, Lymphopenia, Abnormally low T cell receptor excision circl...	ORPHA:276
Chromosomal Instability With Tissue-Specific Radiosensitivity	Abnormality of chromosome stability	OMIM:215510
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis	OMIM:247800
Immunodeficiency 17	Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho...	OMIM:615607
Agammaglobulinemia 7, Autosomal Recessive	Neutropenia	OMIM:615214
Omenn Syndrome	Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B lymphocytopenia...	OMIM:603554
Nijmegen Breakage Syndrome-Like Disorder	Chromosomal breakage induced by ionizing radiation	OMIM:613078
Immunodeficiency 57 With Autoinflammation	Reduced natural killer cell count, Perianal abscess, B lymphocytopenia, T lymphocytopenia	OMIM:618108
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Neutropenia	OMIM:616022
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Neutropenia	ORPHA:90023
Neutropenia, Chronic Familial	Neutropenia	OMIM:162700
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia	OMIM:615285
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Splenomegaly	OMIM:606445
Neutrophil Immunodeficiency Syndrome	Abnormality of neutrophil physiology, Leukocytosis	ORPHA:183707
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of class-switched memory B cells, Lymphopenia, Autoimmune thrombocytopenia, ...	OMIM:619846
Immunodeficiency 75	Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia...	OMIM:619126
Myeloproliferative Syndrome, Transient	Transient myeloproliferative syndrome, Leukocytosis	OMIM:159595
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Eosinophilia, Lymphopenia	ORPHA:2582
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Immunodeficiency 21	Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope...	OMIM:614172
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, B lymphocytopenia, Pancytopenia	OMIM:616873
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:617006
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Immunodeficiency 95	Lymphopenia	OMIM:619773
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Decreased circula...	OMIM:300400
Combined Immunodeficiency Due To Dock8 Deficiency	B lymphocytopenia, T lymphocytopenia	ORPHA:217390
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Hypoplasia of the thymus, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transformatio...	OMIM:619313
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ...	OMIM:202700
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, Decreased proportio...	ORPHA:911
Fanconi Anemia, Complementation Group J	Chromosomal breakage induced by crosslinking agents	OMIM:609054
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen...	OMIM:617514
Agammaglobulinemia 2, Autosomal Recessive	Absent circulating B cells, Abnormal T cell morphology	OMIM:613500
Specific Granule Deficiency 1	Absent neutrophil lactoferrin, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bacteri...	OMIM:245480
Agammaglobulinemia 3, Autosomal Recessive	Neutropenia	OMIM:613501
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells	ORPHA:217260
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Autoimmune hemolytic an...	ORPHA:444463
Agammaglobulinemia 10, Autosomal Dominant	Absent circulating B cells, Transient neutropenia	OMIM:619707
Immunodeficiency 85 And Autoimmunity	Lymphopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Reduced natu...	OMIM:619510
Purine Nucleoside Phosphorylase Deficiency	Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Lymph node hypop...	OMIM:613179
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD...	OMIM:150550
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegal...	OMIM:618986
Ras-Associated Autoimmune Leukoproliferative Disorder	Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic anemia, Pancytop...	OMIM:614470
Trimethylaminuria	Anemia, Neutropenia, Splenomegaly	OMIM:602079
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Abnormality of chromosome stability	OMIM:600546
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Abscess, Impaired neutrophil chemotaxis, De...	OMIM:619374
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Neutropenia	OMIM:610798
Radial-Renal Syndrome	Chromosome breakage	OMIM:179280
Reticuloendotheliosis, X-Linked	Anemia, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro...	OMIM:608203
Transcobalamin Deficiency	Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia	ORPHA:859
Mu-Heavy Chain Disease	Anemia, Abnormal B cell count, Splenomegaly	ORPHA:100024
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia	OMIM:619851
Immunodeficiency 22	Decreased proportion of CD4-positive helper T cells	OMIM:615758
Immunodeficiency 70	Decreased proportion of CD4-positive helper T cells, B lymphocytopenia	OMIM:618969
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Splenomegaly, Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helper T cells, D...	OMIM:300853
Immunodeficiency 102	Neutropenia in presence of anti-neutropil antibodies, Increased proportion of CD8-positive, alpha...	OMIM:301082
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells	OMIM:616098
T-Cell Immunodeficiency With Thymic Aplasia	Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision circle level, Hepatos...	OMIM:242700
Fanconi Anemia, Complementation Group G	Anemia, Thrombocytopenia, Leukemia, Neutropenia	OMIM:614082
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, B lymphocytopenia	OMIM:612692
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Neutropenia	OMIM:613502
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, T lymphocytopenia	OMIM:610163
Immunodeficiency 44	Lymphopenia	OMIM:616636
Folate Malabsorption, Hereditary	Leukopenia, Thrombocytopenia, Folate-responsive megaloblastic anemia, Neutropenia	OMIM:229050
Anemia, Sideroblastic, 5	Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia	OMIM:619523
Glutathione Synthetase Deficiency	Hemolytic anemia, Neutropenia	OMIM:266130
Fanconi Anemia, Complementation Group O	Neonatal death, Chromosome breakage	OMIM:613390
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Neutropenia, Pancytopenia, Bone marrow hypocellularity, Anemia...	OMIM:619041
Lymphedema, Primary, With Myelodysplasia	Leukemia, Acute myeloid leukemia, Decreased CD4:CD8 ratio, Pancytopenia	OMIM:614038
Refractory Anemia	Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut...	ORPHA:98826
Agammaglobulinemia 8B, Autosomal Recessive	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Splenomegaly, B Acute Lymphoblast...	OMIM:619824
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Neutropenia	OMIM:610738
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Bone ma...	OMIM:618849
Acquired Idiopathic Sideroblastic Anemia	Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc...	ORPHA:75564
Adult Idiopathic Neutropenia	Monocytopenia, Monocytosis, Lymphopenia, Neutropenia	ORPHA:2688
Autoimmune Lymphoproliferative Syndrome, Type Iii	Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatosplenomegal...	OMIM:615559
Autoimmune Lymphoproliferative Syndrome, Type Iia	Neutropenia in presence of anti-neutropil antibodies, Coombs-positive hemolytic anemia, Splenomeg...	OMIM:603909
N Syndrome	Abnormality of chromosome stability	OMIM:310465
Agammaglobulinemia, X-Linked	B lymphocytopenia, T lymphocytopenia, Neutropenia, Lymph node hypoplasia, Anemia	OMIM:300755
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	B lymphocytopenia, Decreased proportion of memory B cells	ORPHA:70593
Alpha-Thalassemia-Myelodysplastic Syndrome	Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia	ORPHA:231401
Immunodeficiency 36	Lymphopenia, Splenomegaly, B lymphocytopenia, Chronic lymphatic leukemia, Decreased proportion of...	OMIM:616005
Burkitt Lymphoma	Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen	ORPHA:543
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Absent natural killer cells, Impaired lymphocyte transformation with phytohemagglutinin, Lymphope...	OMIM:600802
Immunodeficiency, Common Variable, 1	Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ...	OMIM:607594
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, Absent circulating B cells, B lymphocytope...	OMIM:619705
Fanconi Anemia, Complementation Group D1	Chromosomal breakage induced by crosslinking agents	OMIM:605724
Hemochromatosis, Type 3	Anemia, Lymphopenia, Neutropenia	OMIM:604250
Lymphangiectasia, Intestinal	Lymphopenia	OMIM:152800
Immunodeficiency 64	Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatosplenomegal...	OMIM:618534
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia	OMIM:603552
Immunodeficiency By Defective Expression Of Mhc Class Ii	Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, T lymphocytope...	ORPHA:572
Agammaglobulinemia 9, Autosomal Recessive	Absent circulating B cells, Thrombocytopenia	OMIM:619693
Spinocerebellar Ataxia, Autosomal Recessive 23	Neutropenia	OMIM:616949
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto...	OMIM:159550
Lissencephaly Syndrome, Norman-Roberts Type	Intrauterine growth retardation, Hypoplastic spleen	ORPHA:89844
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia	OMIM:207731
Immunodeficiency 54	Chromosome breakage	OMIM:609981
Aregenerative Anemia	Abnormal proportion of CD8-positive T cells, Neutropenia, Erythroid hypoplasia, Decreased proport...	ORPHA:101096
Kimura Disease	Eosinophilia, Follicular hyperplasia, Abnormal salivary gland morphology, Lymphadenopathy	ORPHA:482
Fanconi Anemia, Complementation Group V	Chromosomal breakage induced by crosslinking agents	OMIM:617243
Immunodeficiency 46	Anemia, Intermittent thrombocytopenia, Neutropenia	OMIM:616740
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Thrombocytopenia, Lymphopenia	OMIM:616744
Autoimmune Lymphoproliferative Syndrome	Neutropenia in presence of anti-neutropil antibodies, Coombs-positive hemolytic anemia, Splenomeg...	OMIM:601859
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P...	OMIM:619767
Thrombocytopenia 5	Anemia, Thrombocytopenia, Neutropenia	OMIM:616216
Selective Igm Deficiency	Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of transitional B cell...	ORPHA:331235
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt...	OMIM:617780
Congenital Disorder Of Glycosylation, Type Iir	Decreased proportion of CD4-positive T cells	OMIM:301045
Immunodeficiency 98 With Autoinflammation, X-Linked	Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Bone marrow hypocellularity,...	OMIM:301078
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Neutropenia, Macrocytic anemia	OMIM:612563
Diamond-Blackfan Anemia 4	Neutropenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia	OMIM:612527
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf...	ORPHA:35078
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Reduced natural killer cell count, T lymphocytopenia	OMIM:242860
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Chromosomal breakage induced by crosslinking agents	OMIM:619060
Congenital Disorder Of Glycosylation, Type Iic	Reduction of neutrophil motility, Neutrophilia	OMIM:266265
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Hemolytic anemia, Autoimmune hemolytic ...	OMIM:606367
Whim Syndrome 1	Neutropenia	OMIM:193670
Fragile X Syndrome	Folate-dependent fragile site at Xq28	OMIM:300624
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio, Splenomegaly	OMIM:618495
Macrocephaly/Autism Syndrome	Lymphopenia, Splenomegaly	OMIM:605309
Immunodeficiency 92	Lymphocytosis, Leukocytosis, B lymphocytopenia, Thrombocytosis, Decreased proportion of class-swi...	OMIM:619652
Xeroderma Pigmentosum, Complementation Group G	Growth delay, Defective DNA repair after ultraviolet radiation damage	OMIM:278780
Mirage Syndrome	Adrenal insufficiency, Lymphopenia, Cryptorchidism, Short stature, Hypergonadotropic hypogonadism...	OMIM:617053
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Lymphopenia, Eosinophilia, Hepatosplenomegaly, Abnormal B cell count, Abno...	ORPHA:331206
Immunodeficiency With Hyper-Igm, Type 3	Neutropenia	OMIM:606843
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Thrombocytopenia, B lymphocytopenia, Decreased proportion of memory B cells	OMIM:618048
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Fanconi Anemia, Complementation Group Q	Chromosome breakage	OMIM:615272
Deafness-Lymphedema-Leukemia Syndrome	Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count, Bone marrow h...	ORPHA:3226
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Neutropenia	OMIM:618752
Wiskott-Aldrich Syndrome	Lymphopenia, Eosinophilia, Absent microvilli on the surface of peripheral blood lymphocytes, Decr...	OMIM:301000
Fanconi Anemia, Complementation Group S	Chromosome breakage	OMIM:617883
Lymphoproliferative Syndrome 1	Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helpe...	OMIM:613011
Wolfram Syndrome, Mitochondrial Form	Thrombocytopenia, Megaloblastic anemia, Sideroblastic anemia, Neutropenia	OMIM:598500
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Leukocytosis, Hypoplasia of the thymus, Thrombocytosis, Impaired lymphocyte transfor...	OMIM:243150
Fragile X Syndrome	Folate-dependent fragile site at Xq28	ORPHA:908
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatosplenomegaly, T lymphocytopenia, Pancytopenia, Abnormal lymphocyte count, Abnormal natural ...	ORPHA:79124
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased proportion of CD4-positive T cells, Neutrophilia, Leukocytosis	OMIM:617099
Onychotrichodysplasia And Neutropenia	Chronic neutropenia, Lymphocytosis, Neutropenia	OMIM:258360
Lymphoproliferative Syndrome, X-Linked, 1	Neutropenia, Lymphocytosis, Hemophagocytosis, Splenomegaly, Aplastic anemia, Pancytopenia, Thromb...	OMIM:308240
Acitretin/Etretinate Embryopathy	Abnormal retinal morphology, Hypoplasia of the thymus, Aplasia/Hypoplasia of the optic nerve	ORPHA:40366
Pgm3-Cdg	Cutaneous abscess, Abnormal proportion of CD8-positive T cells, Lymphopenia, Neutropenia in prese...	ORPHA:443811
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia	OMIM:616738
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Eosinophilia, Lymphopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly	ORPHA:169160
Xeroderma Pigmentosum, Autosomal Dominant, Mild	Defective DNA repair after ultraviolet radiation damage	OMIM:194400
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Cryptorchidism, Splenomegaly, Hypoplasia of the thymus, Monocytosis, Hepatosplenomeg...	OMIM:612541
Fanconi Anemia, Complementation Group U	Chromosome breakage	OMIM:617247
Purine Nucleoside Phosphorylase Deficiency	Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology...	ORPHA:760
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	Eosinophilia, Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count	OMIM:243700
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Lymphopenia, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Decreased proportio...	ORPHA:508533
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death	Chromosome breakage, Abnormality of chromosome stability	OMIM:208910
Slc35A1-Cdg	Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia	ORPHA:238459
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo...	OMIM:300835
Autoinflammatory Disease, Systemic, X-Linked	Hepatosplenomegaly, B lymphocytopenia, Neutropenia	OMIM:301081
Autosomal Dominant Severe Congenital Neutropenia	Lymphopenia, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblastic leukemia, Neutropeni...	ORPHA:486
Psoriasis 14, Pustular	Neutrophilia, Leukocytosis	OMIM:614204
X-Linked Lymphoproliferative Disease	Histiocytosis, Lymphocytosis, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia...	ORPHA:2442
Chronic Beryllium Disease	Abnormal proportion of CD4-positive T cells	ORPHA:133
Ataxia-Telangiectasia	Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Short stature, Hyp...	OMIM:208900
Gracile Bone Dysplasia	Hypoplastic spleen, Asplenia, Short stature	OMIM:602361
Immunodeficiency 55	Neutropenia, Lymphopenia, Lymphadenopathy, Absent natural killer cells	OMIM:617827
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume	OMIM:617718
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant	Cutaneous abscess, Neutropenia, Reduced natural killer cell count, Lymphopenia	OMIM:619752
Herpes Simplex Virus Encephalitis	Neutrophilia, Leukocytosis	ORPHA:1930
Cryptogenic Organizing Pneumonia	Neutrophilia, Leukocytosis	ORPHA:1302
Retinal Venous Beading	Neutropenia	OMIM:180080
Relapsing Fever	Neutrophilia, Leukocytosis, Leukopenia, Anemia, Thrombocytopenia	ORPHA:91547
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Neutropenia	OMIM:617056
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Anemia, Brain abscess, Neutrophilia	ORPHA:54251
Peroxisome Biogenesis Disorder 2A (Zellweger)	Pigmentary retinopathy, Hypoplasia of the thymus, Cryptorchidism, Optic nerve dysplasia	OMIM:214110
Idiopathic Aplastic Anemia	Pancytopenia, Neutropenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia, Reticulocytopenia	ORPHA:88
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency	Neutropenia	OMIM:600351
Immunodeficiency 67	Liver abscess, Transient neutropenia	OMIM:607676
Immunodeficiency 96	Increased mean corpuscular volume, Increased proportion of gamma-delta T cells	OMIM:619774
Griscelli Syndrome Type 2	Pancytopenia, Splenomegaly, Hemophagocytosis, Neutropenia	ORPHA:79477
Fanconi Anemia, Complementation Group N	Chromosomal breakage induced by crosslinking agents	OMIM:610832
Diamond-Blackfan Anemia 11	Bone marrow hypocellularity, Anemia of inadequate production, Anemia, Neutropenia	OMIM:614900
Stormorken-Sjaastad-Langslet Syndrome	Anemia, Asplenia, Short stature	ORPHA:3204
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility, Asplenia	OMIM:618948
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Monocytosis, Thrombocytopenia	OMIM:619644
Obesity Due To Congenital Leptin Deficiency	Decreased proportion of CD4-positive helper T cells	ORPHA:66628
Asplenia, Isolated Congenital	Thrombocytosis, Asplenia, Howell-Jolly bodies	OMIM:271400
Microphthalmia, Syndromic 9	Multilobulated spleen, Short stature, Patent ductus arteriosus, Hypoplastic spleen, Cryptorchidis...	OMIM:601186
Adult-Onset Still Disease	Bone marrow hypocellularity, Neutrophilia, Leukocytosis, Splenomegaly	ORPHA:829
Syndromic Diarrhea	Lymphopenia, Hepatomegaly, Hepatoblastoma, Splenomegaly, Short stature, Cirrhosis, Hypoplasia of ...	ORPHA:84064
Agammaglobulinemia 1, Autosomal Recessive	Rectal abscess, B lymphocytopenia, Neutropenia	OMIM:601495
Obesity Due To Leptin Receptor Gene Deficiency	Decreased proportion of CD4-positive helper T cells	ORPHA:179494
Isolated Anencephaly	Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes	ORPHA:563609
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia, T lymphocytopenia	OMIM:251260
Systemic Mastocytosis With Associated Hematologic Neoplasm	Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor...	ORPHA:98849
Hemophagocytic Syndrome Associated With An Infection	Neutropenia, Abnormal T cell subset distribution, Hemophagocytosis, Splenomegaly, Pancytopenia, A...	ORPHA:158048
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Lymphopenia, Splenomegaly, Aplasia of the thymus, Severe B lymphocytopenia, Eosinophilia, Autoimm...	OMIM:102700
Fanconi Anemia, Complementation Group I	Chromosomal breakage induced by crosslinking agents	OMIM:609053
3-Methylglutaconic Aciduria, Type Viia	Anemia, Anisopoikilocytosis, Neutropenia	OMIM:619835
Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Coombs-positive hemolytic anemia, T...	ORPHA:83471
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Lymphopenia, Leukopenia, B lymphocytopenia, Neutropenia, Bone marrow hypocellularity, Anemia, Thr...	ORPHA:508542
Autoimmune Lymphoproliferative Syndrome	Abnormal proportion of CD8-positive T cells, Lymphopenia, Coombs-positive hemolytic anemia, Lymph...	ORPHA:3261
Macrophage Activation Syndrome	Hemophagocytosis, Splenomegaly, Abnormal natural killer cell count, Neutropenia, Anemia, Thromboc...	ORPHA:158061
Staphylococcal Necrotizing Pneumonia	Leukopenia, Neutrophilia, Leukocytosis	ORPHA:36238
Lethal Congenital Contracture Syndrome 10	Hypoplasia of the thymus, Intrauterine growth retardation	OMIM:617022
Xeroderma Pigmentosum, Complementation Group F	Defective DNA repair after ultraviolet radiation damage, Deficient excision of UV-induced pyrimid...	OMIM:278760
Wiskott-Aldrich Syndrome	Lymphopenia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Hemolytic anemia, Microcyt...	ORPHA:906
Pearson Syndrome	Exocrine pancreatic insufficiency, Hepatomegaly, Hypoplastic spleen, Pancytopenia, Bone marrow hy...	ORPHA:699
Spondyloenchondrodysplasia With Immune Dysregulation	Neutropenia, Lymphopenia, Autoimmune thrombocytopenia, T lymphocytopenia	OMIM:607944
Heme Oxygenase 1 Deficiency	Hepatomegaly, Coombs-positive hemolytic anemia, Cervical lymphadenopathy, Hemolytic anemia, Throm...	OMIM:614034
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Splenomegaly, Hypochromic microcytic anemia, Schistocytosis, B lymphocytopenia, Sideroblastic anemia	OMIM:616084
Imerslund-Gräsbeck Syndrome	Megaloblastic anemia, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thrombocytopenia, Oval...	ORPHA:35858
Progeria-Short Stature-Pigmented Nevi Syndrome	Microcytic anemia, T lymphocytopenia	ORPHA:2959
Letterer-Siwe Disease	Hepatosplenomegaly, Anemia, Thrombocytopenia, Neutropenia	OMIM:246400
Fanconi Anemia, Complementation Group C	Neutropenia, Cryptorchidism, Short stature, Hypergonadotropic hypogonadism, Thrombocytopenia, Def...	OMIM:227645
Fanconi Anemia, Complementation Group A	Cryptorchidism, Short stature, Hypergonadotropic hypogonadism, Thrombocytopenia, Pancytopenia, De...	OMIM:227650
Ataxia-Telangiectasia	Abnormality of chromosome stability	ORPHA:100
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Neutropenia, Anemia,...	OMIM:304790
Fanconi Anemia, Complementation Group L	Chromosomal breakage induced by crosslinking agents, Chromosome breakage	OMIM:614083
Combined Immunodeficiency-Enteropathy Spectrum	Hypoplasia of the thymus, Peritoneal abscess, Type I diabetes mellitus, Rectal abscess, Hashimoto...	ORPHA:436252
Fanconi Anemia, Complementation Group E	Cryptorchidism, Short stature, Hypergonadotropic hypogonadism, Thrombocytopenia, Pancytopenia, De...	OMIM:600901
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Aplasia of the thymus	ORPHA:3004
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
Transcobalamin Ii Deficiency	Neutropenia, Macrocytic anemia, Reticulocytopenia, Pancytopenia	OMIM:275350
Bloom Syndrome	Chromosome breakage, Abnormality of chromosome stability	OMIM:210900
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Abnormal B cell morphology	OMIM:618223
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Cholestasis, Hepatic fibrosis, Stillbirth, Asplenia	OMIM:615415
Dyskeratosis Congenita, Autosomal Dominant 2	Leukopenia, Aplastic anemia, Pancytopenia, Neutropenia, Bone marrow hypocellularity, Thrombocytop...	OMIM:613989
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Lymphocytosis, Iron deficiency anemia, Thrombocytosis, Perianal abscess, Reduced natural killer c...	OMIM:301074
Laterality Defects, Autosomal Dominant	Asplenia	OMIM:601086
Autoimmune Polyendocrinopathy Type 3	Thymoma, Graves disease, Hypergonadotropic hypogonadism, Leukopenia, Autoimmune thrombocytopenia,...	ORPHA:227982
Hypoglossia With Situs Inversus	Polysplenia, Asplenia	OMIM:612776
Autoimmune Polyendocrinopathy Type 4	Thymoma, Hypergonadotropic hypogonadism, Leukopenia, Autoimmune thrombocytopenia, Macrocytic anem...	ORPHA:227990
Sweet Syndrome	Neutrophilia, Leukocytosis, Sterile abscess, Chronic lymphatic leukemia, Anemia, Acute myeloid le...	ORPHA:3243
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Splenomegaly, Cirrhosis, Pancreatic fibrosis, Hyperechogenic pancreas, Malformation...	OMIM:208540
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Severe B lymphocytopenia, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology	ORPHA:293978
Fanconi Anemia, Complementation Group F	Chromosomal breakage induced by crosslinking agents	OMIM:603467
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis	Abscess, Neutrophilia, Splenomegaly	OMIM:612852
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Cholelithiasis, Hypoparathyroidism, Adrenal insufficiency, Chronic active hepatitis, Decreased ci...	OMIM:240300
Fanconi Anemia, Complementation Group D2	Annular pancreas, Neutropenia, Cryptorchidism, Short stature, Hypergonadotropic hypogonadism, Thr...	OMIM:227646
Stormorken Syndrome	Short stature, Anemia, Thrombocytopenia, Asplenia, Howell-Jolly bodies	OMIM:185070
Trichothiodystrophy	Impaired social reciprocity, Cryptorchidism, Defective DNA repair after ultraviolet radiation dam...	ORPHA:33364
Proteus-Like Syndrome	Splenomegaly, Abnormality of the parathyroid gland, Retinal detachment, Thymus hyperplasia, Polyc...	ORPHA:2969
Hyper-Igd Syndrome	Hepatosplenomegaly, Neutrophilia, Leukocytosis, Splenomegaly	OMIM:260920
22Q11.2 Deletion Syndrome	Cholelithiasis, Hypoparathyroidism, Hyperthyroidism, Splenomegaly, Hypoplasia of the thymus, Abno...	ORPHA:567
Treacher-Collins Syndrome	Hypoplasia of the thymus, Abnormality of the adrenal glands, Patent ductus arteriosus, Thyroid hy...	ORPHA:861
Kasabach-Merritt Syndrome	Leukopenia, Reticulocytosis, Neutropenia, Microangiopathic hemolytic anemia, Anemia, Thrombocytop...	ORPHA:2330
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Anemia...	OMIM:619381
Familial Mediterranean Fever	Neutrophilia, Leukocytosis, Splenomegaly	OMIM:249100
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Exocrine pancreatic insufficiency, Type II diabetes mellitus, Hyperthyroidism, Cirrhosis...	OMIM:269200
Eec Syndrome	Decreased response to growth hormone stimulation test, Hypoplasia of the thymus, Anterior hypopit...	ORPHA:1896
Riddle Syndrome	Chromosomal breakage induced by ionizing radiation	ORPHA:420741
Digeorge Syndrome	Cholelithiasis, Hydrocele testis, Decreased circulating parathyroid hormone level, Splenomegaly, ...	OMIM:188400
Primary Ciliary Dyskinesia	Female infertility, Male infertility, Polysplenia, Abnormal sperm motility, Asplenia	ORPHA:244
Icf Syndrome	Abnormality of chromosome stability	ORPHA:2268
Lig4 Syndrome	Abnormality of chromosome stability	ORPHA:99812
Gaisböck Syndrome	Increased red blood cell count, Elevated plasma cell count, Increased hematocrit, Increased mean ...	ORPHA:90041
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Lymphopenia, Severe B lymphocytopenia, Accessory spleen, Anemia, Thrombocytopenia	OMIM:620005
Xfe Progeroid Syndrome	Defective DNA repair after ultraviolet radiation damage, Severe short stature, Premature ovarian ...	OMIM:610965
Meningioma	Chromosomal breakage induced by ionizing radiation	ORPHA:2495
Fanconi Anemia, Complementation Group B	Abnormality of chromosome stability	OMIM:300514
Mosaic Trisomy 9	Abnormal liver lobulation, Patent ductus arteriosus, Cryptorchidism, Intrauterine growth retardat...	ORPHA:99776
Ciliary Dyskinesia, Primary, 1	Male infertility, Asplenia	OMIM:244400
Leukocyte Adhesion Deficiency Type Ii	Anemia, Microcytic anemia, Neutrophilia, Leukocytosis	ORPHA:99843
Bloom Syndrome	Abnormal proportion of CD8-positive T cells, Abscess, Decreased proportion of CD4-positive T cell...	ORPHA:125
Sweeney-Cox Syndrome	Bilateral cryptorchidism, Asplenia	OMIM:617746
Feingold Syndrome 1	Annular pancreas, Accessory spleen, Patent ductus arteriosus, Polysplenia, Asplenia	OMIM:164280
Xeroderma Pigmentosum, Complementation Group E	Defective DNA repair after ultraviolet radiation damage	OMIM:278740
Truncus Arteriosus	Patent ductus arteriosus, Hypoplasia of the thymus, Intrauterine growth retardation, Adrenocortic...	ORPHA:3384
De Sanctis-Cacchione Syndrome	Defective DNA repair after ultraviolet radiation damage, Bilateral cryptorchidism, Severe short s...	OMIM:278800
Monosomy 22	Hepatosplenomegaly, Hypochromic microcytic anemia, Aplasia of the thymus	ORPHA:96123
Wiedemann-Rautenstrauch Syndrome	Increased serum testosterone level, Short stature, Hypoplasia of the thymus, Cryptorchidism, Intr...	OMIM:264090
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Eosinophilia, Hepatospleno...	ORPHA:3260
Xeroderma Pigmentosum, Complementation Group C	Defective DNA repair after ultraviolet radiation damage	OMIM:278720
Xeroderma Pigmentosum, Complementation Group A	Defective DNA repair after ultraviolet radiation damage	OMIM:278700
Cardiofacioneurodevelopmental Syndrome	Cryptorchidism, Asplenia, Abdominal situs inversus	OMIM:619123
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia	OMIM:619036
Congenital Alveolar Capillary Dysplasia	Annular pancreas, Absent gallbladder, Patent ductus arteriosus, Asplenia	ORPHA:210122
Revesz Syndrome	Abnormality of chromosome stability	OMIM:268130
Right Atrial Isomerism	Polysplenia, Abdominal situs ambiguus, Asplenia	OMIM:208530
Xeroderma Pigmentosum, Complementation Group D	Defective DNA repair after ultraviolet radiation damage	OMIM:278730
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Patent ductus arteriosus, Asplenia, Short stature	OMIM:619657
Cartilage-Hair Hypoplasia	Abnormality of chromosome stability	ORPHA:175
Microgastria-Limb Reduction Defects Association	Splenogonadal fusion, Biliary tract abnormality, Absent gallbladder, Cryptorchidism, Asplenia	OMIM:156810
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Severe B lymphocytopenia, B lymphocytopenia	ORPHA:83617
Japanese Encephalitis	Neutrophilia	ORPHA:79139
Meckel Syndrome, Type 1	Splenomegaly, Accessory spleen, Malformation of the hepatic ductal plate, Adrenal hypoplasia, Pat...	OMIM:249000
Yellow Fever	Thrombocytopenia, Neutrophilia, Leukocytosis	ORPHA:99829
Nijmegen Breakage Syndrome	Abnormality of chromosome stability	ORPHA:647
Crimean-Congo Hemorrhagic Fever	Neutrophilia, Leukocytosis, Splenomegaly, Leukopenia, Pancytopenia, Thrombocytopenia	ORPHA:99827
Fanconi Anemia	Abnormality of chromosome stability	ORPHA:84
Meckel Syndrome	Pancreatic fibrosis, Accessory spleen, Congenital hepatic fibrosis, Cystic liver disease, Cryptor...	ORPHA:564
Proteus Syndrome	Lymphangioma, Ovarian neoplasm, Abnormality of retinal pigmentation, Splenomegaly, Neoplasm of th...	ORPHA:744
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Annular pancreas, Pulmonary lymphangiectasia, Neonatal death, Patent ductus arteriosus, Asplenia	OMIM:265380
Heterotaxy, Visceral, 5, Autosomal	Abdominal situs inversus, Patent ductus arteriosus, Abdominal situs ambiguus, Intrauterine growth...	OMIM:270100
Pseudoaminopterin Syndrome	Cryptorchidism, Asplenia, Short stature	ORPHA:221120
Heterotaxy, Visceral, 1, X-Linked	Hepatomegaly, Biliary atresia, Abdominal situs inversus, Patent ductus arteriosus, Polysplenia, A...	OMIM:306955
Tetraamelia Syndrome 1	Asplenia, Adrenal gland agenesis	OMIM:273395
Mowat-Wilson Syndrome	Hydrocele testis, Chordee, Short stature, Oligomenorrhea, Decreased circulating antibody level, P...	ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Hydrocele testis, Chordee, Short stature, Decreased circulating antibody level, Cryptorchidism, A...	ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Hydrocele testis, Chordee, Short stature, Patent ductus arteriosus, Decreased circulating antibod...	ORPHA:261552

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 Xrcc5

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 Xrcc5.

No publications found that use IMPC mice or data for Xrcc5.

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MGI Allele	Allele Type	Produced
Xrcc5^{em1(IMPC)Ccpcz}	Exon Deletion	Mice, Tissue

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