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Gene: Kdelr1 MGI:1915387

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1
Synonyms:
8030486F04Rik

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 Kdelr1 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 Kdelr1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 15A
Decreased proportion of memory B cells, Chronic mucocutaneous candidiasis, Cutaneous abscess, Dec... OMIM:618204
Immunodeficiency 79
Recurrent otitis media, Recurrent upper respiratory tract infections, Decreased proportion of CD4... OMIM:619238
Reticular Dysgenesis
Sepsis, Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus OMIM:267500
Combined Immunodeficiency, X-Linked
Pneumocystis carinii pneumonia, Abnormal T cell count, Decreased proportion of CD8-positive T cel... OMIM:312863
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Abnormal T cell count, Abnormal B cell count, Recurrent respirato... OMIM:613495
Immunodeficiency 48
Pneumocystis carinii pneumonia, Recurrent candida infections, Abnormal B cell count, Splenomegaly... OMIM:269840
Immunodeficiency 116
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections, Abs... OMIM:608957
Immunodeficiency 24
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... OMIM:615897
Immunodeficiency 84
Splenomegaly, Perianal abscess, B lymphocytopenia, Recurrent bacterial infections, Persistent EBV... OMIM:619437
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Immunodeficiency 8 With Lymphoproliferation
Recurrent upper respiratory tract infections, Recurrent otitis media, Lymphopenia, Chronic oral c... OMIM:615401
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, Recurrent infections, Post-vaccination polio, B lymphocytopenia OMIM:616941
Combined Cellular And Humoral Immune Defects With Granulomas
Recurrent respiratory infections, T lymphocytopenia, B lymphocytopenia OMIM:233650
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Recurrent infections, Thrombocytopenia OMIM:614493
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Recurrent bacterial infections, T lymphocytopenia, Recurrent candida infections OMIM:242870
Immunodeficiency 50
Lymphopenia, Recurrent respiratory infections, Neutropenia, Recurrent urinary tract infections OMIM:300988
Immunodeficiency 53
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent urinary tract infect... OMIM:617585
Immunodeficiency 19
Abnormal B cell morphology, Severe viral infection, Abnormal natural killer cell morphology, Recu... OMIM:615617
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Phaeohyphomycosis, Abnormal proportion of CD8-positive ... OMIM:212050
Immunodeficiency 112
Reduced natural killer cell count, Recurrent viral infections, Chronic mucocutaneous candidiasis,... OMIM:620449
Immunodeficiency 76
Recurrent pneumonia, Lymphopenia, Splenomegaly, Recurrent bronchiolitis, Lymphadenopathy, B lymph... OMIM:619164
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 18
Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno... OMIM:615615
Severe Combined Immunodeficiency, X-Linked
Recurrent pneumonia, Hypoplasia of the thymus, Recurrent fungal infections, Impaired lymphocyte t... OMIM:300400
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Recurrent bronchitis, Absent circulating B cells, Neutropenia, Abnormal T... OMIM:613501
Immunodeficiency 13
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent otitis media, Lympho... OMIM:615518
Cernunnos-Xlf Deficiency
Recurrent viral infections, Lymphopenia, Recurrent bacterial infections, Thrombocytopenia, B lymp... ORPHA:169079
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Recurrent respiratory infections, Cervical ... OMIM:618987
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Abnormal B cell morphology, Recurrent infections OMIM:616911
Immunodeficiency 52
Persistent CMV viremia, Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphop... OMIM:617514
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Absent circulating B cells, Abnormal T cell morpholo... OMIM:613500
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent candida infec... ORPHA:169154
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... OMIM:615513
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memory B cells... OMIM:619126
Immunodeficiency 62
Decreased proportion of memory B cells, Recurrent upper respiratory tract infections, Severe recu... OMIM:618459
Immunodeficiency, Common Variable, 13
Recurrent viral infections, Pancytopenia, Recurrent fungal infections, B lymphocytopenia, Recurre... OMIM:616873
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:611926
Immunodeficiency 104
Chronic mucocutaneous candidiasis, Failure to thrive secondary to recurrent infections, Recurrent... OMIM:608971
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Recurrent otitis media, Abnormal B cell count, Recurrent sinusitis, Decrea... OMIM:613493
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, Severe cytomegalovirus infection, Im... OMIM:619313
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea... OMIM:619846
Myelolymphatic Insufficiency
Recurrent bacterial infections, Leukopenia, Recurrent viral infections, Hyposegmentation of neutr... OMIM:310350
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Persistent CMV viremia, Recurrent viral infections, Recurrent respiratory infections, Recurrent o... OMIM:300853
Immunodeficiency 95
Lymphopenia, Recurrent respiratory infections, Recurrent viral upper respiratory tract infections... OMIM:619773
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent mycobacterial infections, Recurrent viral infections, Lymphadenitis, Chronic mucocutane... ORPHA:911
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Recurrent infections, Herpes simplex encephalitis, Recurrent otitis media, Molluscum contagiosum,... OMIM:618982
Omenn Syndrome
Recurrent viral infections, Splenomegaly, Recurrent bacterial infections, Hypoplasia of the thymu... OMIM:603554
Immunodeficiency 21
Reduced natural killer cell count, Recurrent viral infections, Aplastic anemia, Recurrent mycobac... OMIM:614172
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent upper respiratory tract infections, Recurrent pneumonia, Absence of lymph node germinal... ORPHA:277
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Recurrent otitis media, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lympha... ORPHA:444463
Immunodeficiency 20
Reduced natural killer cell count, BCGitis, Recurrent otitis media, Recurrent viral upper respira... OMIM:615707
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Sepsis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil anti... ORPHA:231154
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, Recurrent upper respiratory tract infection... OMIM:618806
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Chronic oral candidiasis, Neu... OMIM:150550
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus, Recurrent cutaneous fungal infections, BCGosis, Hepatomeg... OMIM:616622
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Mediasti... OMIM:619802
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... OMIM:617241
Immunodeficiency 105
Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Hepatosple... OMIM:619924
Immunodeficiency 68
Sepsis, Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, Recurrent ... OMIM:612260
Immunodeficiency 17
Abnormal B cell morphology, Decreased proportion of CD8-positive T cells, Recurrent otitis media,... OMIM:615607
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Recurrent infection of the gastrointestinal tract, Recurrent sino... OMIM:609529
B-Cell Expansion With Nfkb And T-Cell Anergy
Recurrent infections, Increased B cell count, Splenomegaly OMIM:616452
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Recurrent respiratory infections, Neutropenia, Abnormal T cell... OMIM:615214
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, Recurrent opportunistic infections, B lympho... OMIM:601457
Immunodeficiency 51
Chronic mucocutaneous candidiasis, Cutaneous abscess, Recurrent respiratory infections, Recurrent... OMIM:613953
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Agammaglobulinemia 10, Autosomal Dominant
Type I diabetes mellitus, Transient neutropenia, Recurrent sinusitis, Absent circulating B cells,... OMIM:619707
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy, Severe varicella zoster i... OMIM:618261
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent viral infections, Recurrent candida infections, Recurrent sinusitis, Onychomycosis, B l... ORPHA:217390
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Splenomegaly, Recurrent sinusitis, Absent circulating B cells, Generalized lymphade... OMIM:620282
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis ORPHA:60026
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Recurrent bronchitis, B lymphocytopenia, Abnormal T ... OMIM:612692
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Recurrent viral infect... OMIM:242700
Immunodeficiency, Common Variable, 1
Abnormal T cell count, Recurrent pneumonia, Recurrent otitis media, Splenomegaly, Recurrent bronc... OMIM:607594
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Sepsis, Severe varicel... OMIM:618986
Immunodeficiency 102
Nodular regenerative hyperplasia of liver, Reduced natural killer cell count, Increased proportio... OMIM:301082
Selective Igm Deficiency
Lymphadenitis, Decreased proportion of CD8-positive T cells, Recurrent bronchitis, Tooth abscess,... ORPHA:331235
Immunodeficiency 36 With Lymphoproliferation
Persistent CMV viremia, Recurrent upper respiratory tract infections, Lymphopenia, Splenomegaly, ... OMIM:616005
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia, Persistent human papillomavirus infection, Cryptococcal meningitis OMIM:618309
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Recurrent infections, Lymphocytosis, Splenomegaly OMIM:606445
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Recurrent upper respiratory tract infection... OMIM:602450
Immunodeficiency 9
BCGitis, Lymphopenia, Hypoplasia of the thymus, Abnormal natural killer cell count, Recurrent inf... OMIM:612782
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Perianal abscess, B lymphocytopenia, Recurrent respiratory inf... OMIM:618108
Adult Idiopathic Neutropenia
Lymphopenia, Recurrent bacterial infections, Helicobacter pylori infection, Recurrent fungal infe... ORPHA:2688
Immunodeficiency 44
Lymphopenia, Post-vaccination measles, Severe viral infection OMIM:616636
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Pneumocystis jirovecii pneumonia, Type I diabetes mellitus, Hemophag... OMIM:301078
Immunodeficiency 67
Recurrent staphylococcal infections, Abnormal T cell count, Transient neutropenia, Abnormal B cel... OMIM:607676
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Pneumocystis jirovecii pneum... OMIM:615206
Activated Pi3K-Delta Syndrome
Recurrent tonsillitis, Recurrent otitis media, Splenomegaly, Hepatomegaly, Severe cytomegalovirus... ORPHA:397596
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Agammaglobulinemia 8B, Autosomal Recessive
Recurrent pneumonia, B Acute Lymphoblastic Leukemia, Pancytopenia, Splenomegaly, Increased propor... OMIM:619824
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia, Recurrent bacterial infections OMIM:300299
Immunodeficiency 110 With Lymphoproliferation
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch... OMIM:614868
Immunodeficiency 15B
Recurrent infections, Reduced natural killer cell count, Chronic oral candidiasis, Monocytosis OMIM:615592
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Meningitis, Opportunistic infection, Recurrent candida infections, Hypothy... ORPHA:83471
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Recurrent pneumonia, Thrombocytosis, Leukocytosis, Recurrent sinusitis, B lymphocyt... OMIM:619281
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, Recurrent upper and lower respiratory tract infections, B... ORPHA:70593
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Sepsis, ... ORPHA:276
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica... OMIM:618534
Immunodeficiency, Common Variable, 6
Abnormal T cell count, Abnormal B cell count, Hepatomegaly, Recurrent bacterial infections, Recur... OMIM:613496
Immunodeficiency, Common Variable, 11
Abnormal T cell count, Decreased proportion of class-switched memory B cells, Recurrent respirato... OMIM:615767
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... OMIM:619374
Immunodeficiency 70
Decreased proportion of CD4-positive helper T cells, Recurrent sinusitis, B lymphocytopenia OMIM:618969
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia ORPHA:100024
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent infections, Recurrent pneumonia, Hepatitis, Failure to thrive secondary to recurrent in... ORPHA:169160
Immunodeficiency, Common Variable, 4
Recurrent bacterial infections, Abnormal T cell count, Recurrent pneumonia, Recurrent sinusitis OMIM:613494
Jessner Lymphocytic Infiltration Of The Skin
Abnormal lymphocyte morphology ORPHA:33314
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Recurrent infections, In... OMIM:616098
Agammaglobulinemia 9, Autosomal Recessive
Recurrent bacterial infections, Absent circulating B cells, Thrombocytopenia OMIM:619693
Lymphoproliferative Syndrome, X-Linked, 1
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp... OMIM:308240
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Disabling Pansclerotic Morphea Of Childhood
Lymphopenia, Recurrent infections, Neutropenia OMIM:620443
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Recurrent viral infections, Recurrent enteroviral infections, Lymphadeniti... ORPHA:331206
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Persistent CMV viremia, Recurrent urinary tract infections, Recurrent otitis media, Decreased CD4... OMIM:618495
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumocystis jirovecii pneumonia, Recurrent upper respiratory tract infections, Recurrent candida... OMIM:614069
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Abnormal T cell count, Type I diabetes mellitus, Hepatic hemophagocytosis, Recurrent otitis media... OMIM:620430
Leukodystrophy, Hypomyelinating, 24
Hypothyroidism, B lymphocytopenia OMIM:619851
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Recurrent upper respiratory tract infections, Decreased proportion of cla... OMIM:618944
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Type I diabetes mellitus, Recurrent viral i... OMIM:606367
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Recurrent viral infections, Lymphadenopathy, Thrombocytop... OMIM:618048
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... OMIM:619375
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Cryptorchidism, Neutropenia, Hepatomegaly, Recurrent lower respi... OMIM:612541
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Lymphopenia, Decreased... OMIM:619510
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Recurrent infections, Delayed puberty, Decreased proportion of CD4-positive T cells ORPHA:477814
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocyti... OMIM:617780
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Interface hepatitis, Hypoplasia of the th... OMIM:243150
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Meningitis, Abnormal proportion of CD4-positive T c... ORPHA:217260
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... OMIM:618849
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent urinary tract infections, Lymphopenia, Leukopenia, Splenomegaly, Hepatomegaly, Recurren... OMIM:620210
Lymphangiectasia, Intestinal
Lymphopenia, Intestinal lymphangiectasia OMIM:152800
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent pneumonia, Recurrent viral infections, Absent natural killer cells, Lymphopenia, Hepato... ORPHA:35078
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Impaired lymphocyte transformation with phytohemagglutinin OMIM:153600
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Neutropenia, Abnormal T cell morphology, Recurrent b... OMIM:613502
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Recurrent lower respiratory tract infections, T lymphocytopenia, Abnormal natural killer cell mor... OMIM:615966
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio OMIM:617006
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia ORPHA:859
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Recurrent viral infections, Chronic mucocutaneous candidiasis, Recurrent ... ORPHA:572
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Recurrent pneumonia, Recurrent viral infections, Chronic mucocutaneou... OMIM:102700
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Recurrent upper respiratory tract infections, Absent natural killer cells, Recurrent otitis media... OMIM:600802
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Recurrent enteroviral infections, Recurrent otitis media, Recurrent sinusiti... OMIM:601495
Immunodeficiency 92
Persistent CMV viremia, Thrombocytosis, Leukocytosis, Sclerosing cholangitis, Recurrent oral herp... OMIM:619652
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Intestinal lymphangiectasia OMIM:207731
Ataxia-Telangiectasia
Female hypogonadism, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B... OMIM:208900
Immunodeficiency 115 With Autoinflammation
Recurrent viral infections, Intestinal lymphangiectasia, Splenomegaly, Recurrent bacterial infect... OMIM:620632
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Abnormal T cell count, Recurrent enteroviral infections, Enteroviral dermatomyositis syndrome, Re... OMIM:307200
Immunodeficiency 43
Reduced natural killer cell count, Lung abscess, Recurrent respiratory infections, B lymphocytopenia OMIM:241600
Immunodeficiency 54
Reduced natural killer cell count, Recurrent viral infections, Adrenal insufficiency, Splenomegal... OMIM:609981
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent pneumonia, Recurrent tonsillitis, Granuloma, Lymphadenitis, Lymphop... OMIM:618935
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Recurrent upper respiratory tract infections, Recurrent pneumonia... OMIM:301000
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Se... ORPHA:293978
Autosomal Dominant Severe Congenital Neutropenia
Recurrent viral infections, Aplastic anemia, Lymphopenia, Recurrent infection of the gastrointest... ORPHA:486
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the ovary, Abnormality of the spleen, Abnormality ... ORPHA:543
Systemic Lupus Erythematosus 17
Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia OMIM:301080
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Absent circulating B cells, Decreased proportion of class-switched memory B cells, Neutropenia, B... OMIM:619705
Cyclic Neutropenia
Sepsis, Recurrent tonsillitis, Opportunistic infection, Cervical lymphadenopathy, Lymphopenia, Cy... ORPHA:2686
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Decreased proportion of CD4-positive T cells, Hepatic steatosis, Hepatome... OMIM:301045
Purine Nucleoside Phosphorylase Deficiency
Recurrent respiratory infections, Lymphopenia, Autoimmune hemolytic anemia, Abnormal T cell morph... ORPHA:760
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Splenomegaly, Recurrent sinopulmonary infections, Lymphadenopathy, Recur... OMIM:607271
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Recurrent otitis media, Abnormal B cell morphology, Recurrent infections, Cryptorchidism OMIM:616910
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Hemolytic anemia, Thrombocytopenia OMIM:616744
Hemochromatosis, Type 3
Lymphopenia, Hypogonadotropic hypogonadism, Cirrhosis, Neutropenia, Anemia OMIM:604250
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Recurrent viral infections, Recurrent gastroenteritis, Hashim... ORPHA:275
Ataxia-Telangiectasia
Aplasia/Hypoplasia of the thymus, Lymphopenia, Type II diabetes mellitus, Polycystic ovaries, Del... ORPHA:100
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Recurrent upper respiratory tract infections, Sepsis, Lymphopenia, Autoimmune hemolytic anemia, S... OMIM:616100
Agammaglobulinemia, X-Linked
Recurrent pneumonia, Sepsis, Enteroviral dermatomyositis syndrome, Recurrent otitis media, Pyoder... OMIM:300755
Immunodeficiency, Common Variable, 8, With Autoimmunity
Recurrent pneumonia, Sepsis, Type I diabetes mellitus, Recurrent respiratory infections, Recurren... OMIM:614700
Isolated Agammaglobulinemia
Sepsis, Recurrent respiratory infections, Abnormal lymphocyte morphology, Abnormality of the lymp... ORPHA:229717
Immunodeficiency 114, Folate-Responsive
Lymphopenia, Splenomegaly, Megaloblastic anemia, Thrombocytopenia, Hepatomegaly, Recurrent lower ... OMIM:620603
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Recurrent viral infections, Recurrent enteroviral infecti... ORPHA:79124
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia ORPHA:1116
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Reduced natural killer cell count, Recurrent viral infections, Recurrent pneumonia, Cutaneous abs... OMIM:243700
Immunodeficiency 25
Recurrent pneumonia, Recurrent candida infections, Autoimmune hemolytic anemia, Eosinophilia, Rec... OMIM:610163
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Bone marrow hypo... OMIM:619767
Noonan Syndrome 12
Decreased response to growth hormone stimulation test, Lymphopenia, Thrombocytopenia OMIM:618624
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Recurrent mycobacterial infections, Invasive fungal infection, Chronic mucocutaneous candidiasis,... ORPHA:98813
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Lymphadenopathy, Neutropenia, Recurrent infections OMIM:617827
Immunodeficiency 40
Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Hepatomegaly, Thrombocytopen... OMIM:616433
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Reduced natural killer cell count, Recurrent upper respiratory tract infections, Recurrent pneumo... OMIM:619752
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Recurrent upper respiratory tract infections, Insulin-resistant diabet... ORPHA:66628
Purine Nucleoside Phosphorylase Deficiency
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent urinary tract... OMIM:613179
Epidermodysplasia Verruciformis, Susceptibility To, 4
Increased proportion of exhausted T cells OMIM:618307
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Acute leukemia, Sepsis, Microcytic anemia, Lymphopenia, Chronic l... ORPHA:906
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Recurrent upper respiratory tract infections, Insulin-resistant diabet... ORPHA:179494
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume, Recurrent otitis ... OMIM:619774
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Pancytopenia, Splenomegaly, Recurrent sinopulmonary infec... OMIM:618394
Immunodeficiency 31C
Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Lymphopenia, Disseminated hi... OMIM:614162
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype... OMIM:601859
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype... OMIM:603909
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Lymphopenia, Leukopenia, Recurrent infection of the gastrointestinal tract, Neutropenia, Schistoc... OMIM:301110
Dyskeratosis Congenita, Autosomal Recessive 8
Bone marrow hypocellularity, Reduced natural killer cell count, Pancytopenia, B lymphocytopenia OMIM:620133
Immunodeficiency 49
Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc... OMIM:617237
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Bronchiolitis, Decreased proportion of class-switched memory B cells, Recurrent sinopulmonary inf... OMIM:614878
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Recurrent viral infections, Lymphopenia, Decreased proportion of CD4-posi... ORPHA:443811
Syndromic Diarrhea
Hepatic fibrosis, Lymphopenia, Abnormality of the liver, Splenomegaly, Hypoplasia of the thymus, ... ORPHA:84064
Aregenerative Anemia
Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A... ORPHA:101096
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Recurrent sinusitis OMIM:617765
Sneddon Syndrome
Lymphopenia OMIM:182410
Hemophagocytic Syndrome Associated With An Infection
Histoplasmosis, Hemophagocytosis, Invasive fungal infection, Severe viral infection, Invasive par... ORPHA:158048
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils, Recurrent respiratory infections ORPHA:2268
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Type I diabetes mellitus, Lymphopenia, Portal hypertension, Cryptorchidism, Thrombocytopenia, Anemia OMIM:620365
Macrocephaly/Autism Syndrome
Recurrent otitis media, Lymphopenia, Splenomegaly, Hepatomegaly, Recurrent infections, Hydrocele ... OMIM:605309
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Bone marrow hypocellularity, Recurrent upper respiratory tract infections, Lymphopenia, Leukopeni... ORPHA:508542
Autoinflammatory Disease, Systemic, X-Linked
Hepatosplenomegaly, Neutropenia, B lymphocytopenia OMIM:301081
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Lymphade... ORPHA:100026
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Recurrent pneumonia, Decreased proportion of CD8-positive T cells, Lymphopenia, Hypereosinophilia... ORPHA:508533
Ebola Hemorrhagic Fever
Sepsis, Hepatitis, Lymphopenia, Leukopenia, Thrombocytopenia, Acute pancreatitis ORPHA:319218
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anemia, Recurrent inf... OMIM:617591
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent upper respiratory tract infections, Type I diabetes mellitus, Chronic mucocutaneous can... ORPHA:391487
Immunodeficiency 23
Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Molluscum contagiosum, Lymph... OMIM:615816
Immunodeficiency 22
Recurrent upper respiratory tract infections, Decreased proportion of CD4-positive helper T cells... OMIM:615758
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Type I diabetes mellitus, Hepatitis, Autoimmune hemolytic anemia, Hashimoto t... ORPHA:436252
Chronic Beryllium Disease
Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells ORPHA:133
Mirage Syndrome
Sepsis, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Decreased testicular size, A... OMIM:617053
Sting-Associated Vasculopathy, Infantile-Onset
Recurrent respiratory infections, Lymphopenia, Leukopenia, Follicular hyperplasia, Thrombocytosis... OMIM:615934
Legionnaires Disease
Bone marrow hypocellularity, Sepsis, Hepatitis, Lymphopenia, Splenomegaly, Infectious encephaliti... ORPHA:549
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus ORPHA:40366
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Opportunistic infection, Cryptococcal meningitis, Intestinal lymphangiectasi... ORPHA:90362
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Anemia, Lymphopenia, Recurrent respiratory infections, Abnormality of the pancreas ORPHA:935
Common Variable Immunodeficiency
Lymphopenia, Abnormality of the liver, Splenomegaly, Recurrent bronchitis, Lymphadenopathy, Recur... ORPHA:1572
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis OMIM:616084
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Recurrent infections, Neutropenia, Bilateral cryptorchidism OMIM:616395
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia ORPHA:391307
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Hypoplasia of the thymus, Hepatomegaly, Jaundice, Intrahepatic biliary dysgenesis OMIM:214110
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Reduced natural killer cell count, Recurrent viral infections, Recurrent urinary tract infections... ORPHA:221139
Avian Influenza
Sepsis, Hepatitis, Lymphopenia, Leukopenia, Infectious encephalitis, Thrombocytopenia, Meningitis ORPHA:454836
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Abnormal B cell morphology, Decreased response to growth hormone stimulation test, Hashimoto thyr... OMIM:618223
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Hepatic fibrosis, Severe B lymphocytopenia, Exocrine pancreatic insufficiency, ... OMIM:620005
Whim Syndrome
Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Lymphadenitis, Parotit... ORPHA:51636
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Recurrent infections, Lymphopenia, Eosinophilia, Hepatic cysts OMIM:617425
Isolated Anencephaly
Adrenal hypoplasia, Thymus hyperplasia, Maternal diabetes ORPHA:563609
Cartilage-Hair Hypoplasia
Lymphopenia, Susceptibility to chickenpox, Macrocytic anemia, Impaired lymphocyte transformation ... OMIM:250250
Nijmegen Breakage Syndrome
Recurrent pneumonia, Recurrent urinary tract infections, Recurrent otitis media, Recurrent infect... OMIM:251260
Reni Syndrome
Hypogonadism, Lymphopenia, Adrenal insufficiency, Cryptorchidism, Hypothyroidism OMIM:617575
Generalized Pustular Psoriasis
Lymphopenia, Sepsis, Leukocytosis ORPHA:247353
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron... OMIM:301074
Acute Radiation Syndrome
Lymphopenia, Granulocytopenia, Thrombocytopenia ORPHA:454831
Fusariosis
Unusual CNS infection, Granuloma, Brain abscess, Invasive fungal infection, Abnormality of the sp... ORPHA:228119
Cowden Syndrome 1
Thyroid adenoma, Goiter, Lymphopenia, Ovarian cyst, Ovarian carcinoma, Hypothyroidism, Hyperthyro... OMIM:158350
Schimke Immunoosseous Dysplasia
Elevated circulating thyroid-stimulating hormone concentration, Bilateral cryptorchidism, Lymphop... OMIM:242900
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus OMIM:617022
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus ORPHA:3004
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Bone marrow hypocellularity, Type I diabetes mellitus, Recurrent otitis media, Lymphopenia, Pancy... OMIM:615688
Dyskeratosis Congenita, Autosomal Dominant 1
Bone marrow hypocellularity, Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leu... OMIM:127550
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent otitis media, Lymphopenia, T lymphocytopenia, Recurrent sinusitis, Hypothyroidism, Lymp... OMIM:607944
Schimke Immuno-Osseous Dysplasia
Bone marrow hypocellularity, Abnormal proportion of naive CD4 T cells, Lymphopenia, Abnormality o... ORPHA:1830
Autoimmune Lymphoproliferative Syndrome
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport... ORPHA:3261
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Hypoplasia of the thymus, Recurrent pneumonia, Adrenal hypoplasia OMIM:613177
Immunodeficiency 87 And Autoimmunity
Recurrent viral infections, Sepsis, Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Cervical l... OMIM:619573
Immunodeficiency 82 With Systemic Inflammation
Reduced natural killer cell count, Hepatitis, Recurrent otitis media, Decreased proportion of nai... OMIM:619381
Digeorge Syndrome
Recurrent pneumonia, Cholelithiasis, Parathyroid hypoplasia, Recurrent otitis media, Splenomegaly... OMIM:188400
Vici Syndrome
Recurrent viral infections, Chronic mucocutaneous candidiasis, Lymphopenia, Leukopenia, Decreased... OMIM:242840
Pediatric Systemic Lupus Erythematosus
Microangiopathic hemolytic anemia, Lymphopenia, Leukopenia, Lymphadenopathy, Thrombocytopenia ORPHA:93552
Bloom Syndrome
Recurrent tonsillitis, Recurrent urinary tract infections, Severe toxoplasmosis, Abscess, Decreas... ORPHA:125
Alg12-Cdg
Recurrent pneumonia, Sepsis, Cryptorchidism, Recurrent pharyngitis, Decreased serum insulin-like ... ORPHA:79324
Fraser Syndrome 2
Hypoplasia of the thymus OMIM:617666
Treacher-Collins Syndrome
Hypoplasia of the thymus, Abnormality of the adrenal glands, Thyroid hypoplasia, Cryptorchidism ORPHA:861
Eec Syndrome
Decreased response to growth hormone stimulation test, Hypoplasia of the thymus, Anterior hypopit... ORPHA:1896
22Q11.2 Deletion Syndrome
Cholelithiasis, Splenomegaly, Cryptorchidism, Hypoplasia of the thymus, Hypothyroidism, Abnormali... ORPHA:567
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Recurrent otitis media, Lymphopenia, Pancytopenia, Leukopenia, Thrombocytopenia, Reduced circulat... OMIM:620654
Reynolds Syndrome
Biliary cirrhosis, Cholestasis, Lymphopenia, Splenomegaly, Hepatomegaly, Jaundice OMIM:613471
Short Stature, Microcephaly, And Endocrine Dysfunction
Lymphopenia, Cryptorchidism, Hypothyroidism, Anemia, Diabetes mellitus OMIM:616541
Noonan Syndrome 14
Lymphopenia, Cryptorchidism OMIM:619745
Proteus-Like Syndrome
Abnormality of the parathyroid gland, Thymus hyperplasia, Splenomegaly, Polycystic ovaries ORPHA:2969
Lujo Hemorrhagic Fever
Severe viral infection, Lymphopenia, Leukopenia, Leukocytosis, Thrombocytopenia, Fulminant hepatitis ORPHA:319213
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Pancreatic hypoplasia, Cryptorchidism, Hepatomegaly, Biliary hyperplasia, B lymph... ORPHA:83617
Microsporidiosis
Bronchiolitis, Sepsis, Brain abscess, Lymphadenitis, Hepatitis, Abnormality of the parathyroid gl... ORPHA:2552
Secondary Intestinal Lymphangiectasia
Lymphopenia, Recurrent infections, Cirrhosis, Secondary hyperaldosteronism ORPHA:90363
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Lymphopenia OMIM:619708
Hennekam Syndrome
Lymphopenia, Splenomegaly, Lymphadenopathy, Pulmonary lymphangiectasia, Recurrent respiratory inf... ORPHA:2136
Monosomy 22
Hepatosplenomegaly, Aplasia of the thymus, Hypochromic microcytic anemia ORPHA:96123
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Wiedemann-Rautenstrauch Syndrome
Hypoplasia of the thymus, Recurrent respiratory infections, Cryptorchidism, Increased serum testo... OMIM:264090
Cushing Disease
Increased circulating cortisol level, Increased urinary cortisol level, Lymphopenia, Increased ci... ORPHA:96253
Primary Sjögren Syndrome
Normocytic anemia, Thyroiditis, Biliary cirrhosis, Chronic active hepatitis, Parotitis, Lymphopen... ORPHA:289390
Khan-Khan-Katsanis Syndrome
Anemia, Lymphopenia, Neutropenia OMIM:618460
Truncus Arteriosus
Hypoplasia of the thymus, Adrenocortical abnormality ORPHA:3384
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Lymphopenia, Abnormal lymphocyte morphology, Leukopenia, R... ORPHA:99826
Cushing Syndrome Due To Ectopic Acth Secretion
Increased circulating cortisol level, Abnormal lymph node morphology, Increased urinary cortisol ... ORPHA:99889
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Congenital hypothyroidism, Aplasia of the thymus, Hypothyroidism, Hypoplastic nipp... OMIM:620186
Proteus Syndrome
Thymus hyperplasia, Diabetes insipidus, Neoplasm of the thymus, Splenomegaly, Enlarged polycystic... 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 Kdelr1

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 Kdelr1.

No publications found that use IMPC mice or data for Kdelr1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Kdelr1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Kdelr1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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