Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
integrin alpha 6
Synonyms:
5033401O05Rik,  Cd49f

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Itga6 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.

The table below shows human diseases associated to Itga6 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Aplasia cutis congenita on trunk or limbs, Aplasia cutis congenita of scalp, Neonatal death OMIM:619817
Junctional Epidermolysis Bullosa With Pyloric Atresia
Aplasia cutis congenita ORPHA:79403

The table below shows human diseases predicted to be associated to Itga6 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Pancytopenia, Cutaneous anergy, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Immunodeficiency 18
Defective T cell proliferation, Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Reticular Dysgenesis
Leukopenia, Hypoplasia of the thymus, Lack of T cell function, Lymphopenia, Impaired T cell funct... OMIM:267500
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Decreased ci... OMIM:615897
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Decreased circulating IgE, Decreased circulating IgA leve... OMIM:606843
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Decreased circulating IgG level OMIM:235550
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Immunodeficiency 105
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... OMIM:619924
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia, Decreased circulating IgG level OMIM:233650
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Absen... OMIM:619846
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
T lymphocytopenia, Increased proportion of transitional B cells, Decreased circulating IgG2 level... OMIM:615513
Pemphigoid Gestationis
Skin vesicle ORPHA:63275
Familial Benign Chronic Pemphigus
Skin vesicle, Skin erosion, Erythema ORPHA:2841
Hereditary Progressive Mucinous Histiocytosis
Lymphadenopathy, Mucinous histiocytosis ORPHA:158025
Erythema Elevatum Diutinum
Skin vesicle, Skin nodule ORPHA:90000
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, B lymphocytopenia, Abnormally low T cell receptor excision circl... OMIM:618987
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Darier Disease
Skin vesicle, Plantar pits, Acrokeratosis, Macule, Hypermelanotic macule ORPHA:218
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Follicular hyperplasia, Mediastinal lymphadenopathy ORPHA:60026
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Kimura Disease
Lymphadenopathy, Follicular hyperplasia, Increased circulating IgE level, Eosinophilia ORPHA:482
Pruritic Urticarial Papules And Plaques Of Pregnancy
Facial erythema, Palmoplantar erythema, Striae distensae, Skin vesicle, Urticarial plaque, Erythe... ORPHA:64745
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Decreased circulating antibody level, Hepatosplenomegaly, Lymp... OMIM:618261
Reticuloendotheliosis, X-Linked
Anemia, Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Decreased circulating total IgM, Decreased T cell activation, Complete o... OMIM:607271
Immunodeficiency With Hyper-Igm, Type 2
Complete or near-complete absence of specific antibody response to tetanus vaccine, Impaired Ig c... OMIM:605258
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Lymphadenopathy, Decreased circulating IgA level, Increas... OMIM:608106
Dowling-Degos Disease
Palmar pits, Skin vesicle, Hyperpigmented papule, Hyperkeratotic papule, Digital pitting scar, Ep... ORPHA:79145
Immunodeficiency 64 With Lymphoproliferation
Decreased lymphocyte proliferation in response to mitogen, Defective T cell proliferation, Decrea... OMIM:618534
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Abnormality of the... OMIM:611926
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... OMIM:212050
Immunodeficiency 11
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibo... OMIM:615206
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Decreased T cell activation, Decreased proportion of CD4-positive T cell... OMIM:300853
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Milia, Localized skin lesion, Hyperkeratotic papule, Skin vesicle, Keloids, Atrophic scars, Skin ... ORPHA:79410
Immunodeficiency 75 With Lymphoproliferation
Lymphadenopathy, Follicular hyperplasia, Decreased proportion of class-switched memory B cells, H... OMIM:619126
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Decreased circulating antibody level, Coombs-positiv... OMIM:617514
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Increased proportion of memory T cells, Increased circulating IgG level, ... OMIM:618982
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Thrombocytopenia, Decreased proportion of CD8-positive T cells, R... OMIM:614493
Immunodeficiency 76
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly OMIM:619164
Lissencephaly, X-Linked, 1
Gray matter heterotopia, Death in infancy, Agyria, Lissencephaly, Pachygyria, Agenesis of corpus ... OMIM:300067
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria OMIM:615411
Pemphigus Foliaceus
Skin vesicle, Annular cutaneous lesion, Scaling skin, Skin erosion, Erythema, Erythematous plaque... ORPHA:79481
Dermatitis Herpetiformis
Skin vesicle, Macule, Erythema ORPHA:1656
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, Decreased circulating total IgM, T lymphocytopenia, Reduced natural kil... OMIM:300400
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent tonsils, Absen... ORPHA:277
Wells Syndrome
Skin vesicle ORPHA:901
Pyoderma Gangrenosum
Skin vesicle, Atrophic scars, Skin ulcer, Papule ORPHA:48104
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Dermal atrophy, Skin vesicle, Aplasia/Hypoplasia of the skin, Papule ORPHA:257
Lissencephaly 1
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria OMIM:607432
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... OMIM:619220
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ... OMIM:601859
Lichen Planus Pemphigoides
Skin vesicle ORPHA:254478
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Hemolytic anemia, Increased circulating antibody level, Lymphocytosis, Pancytopenia... OMIM:614470
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
T lymphocytopenia, Decreased lymphocyte proliferation in response to mitogen, Increased circulati... ORPHA:169154
Immunodeficiency 50
Neutropenia, Lymphopenia, Decreased circulating antibody level OMIM:300988
Immunodeficiency 104
Splenomegaly, Lymphadenopathy, T lymphocytopenia OMIM:608971
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Panhypogammaglobulinemia, T lymphocytopenia, Abnormality of B cell physiology, Lymphopenia, Absen... OMIM:600802
Kerion Celsi
Recurrent cutaneous abscess formation, Lymphadenopathy ORPHA:499
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphade... ORPHA:444463
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased circulating IgG level, Decreased proporti... OMIM:312863
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Sub-Cortical Nodular Heterotopia
Subcortical heterotopia, Abnormality of neuronal migration, Agenesis of corpus callosum, Polymicr... ORPHA:101029
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutroph... OMIM:618986
Immunodeficiency, Common Variable, 1
Decreased circulating total IgM, B lymphocytopenia, Neutropenia in presence of anti-neutropil ant... OMIM:607594
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circulating antibody level, Lymphopenia, ... ORPHA:169079
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Lissencephaly 3
Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria, Periventricular laminar heterotopia, ... OMIM:611603
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Gray matter heterotopia, Optic atrophy, Hydrocephalus, Type II lissencephaly, Dysgyria, Occipital... ORPHA:352682
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia OMIM:247800
Chudley-Mccullough Syndrome
Gray matter heterotopia, Hydrocephalus, Partial agenesis of the corpus callosum, Dysplastic corpu... OMIM:604213
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Skin vesicle, Erythema migrans ORPHA:158681
Microlissencephaly
Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa... ORPHA:1083
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, Reduced antigen-specific ... OMIM:617241
Iga Pemphigus
Skin plaque, Annular cutaneous lesion, Skin vesicle, Skin erosion ORPHA:555905
Pyknoachondrogenesis
Stillbirth OMIM:265880
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Mu-Heavy Chain Disease
Anemia, Increased circulating antibody level, Abnormal B cell count, Lymphadenopathy, Splenomegaly ORPHA:100024
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Abnormal natural killer cell physiology, Decreased circulating antibody level, Hepatosple... OMIM:613101
Mast Cell Sarcoma
Mastocytosis, Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy ORPHA:66661
Immunodeficiency With Hyper-Igm, Type 4
Impaired Ig class switch recombination, Autoimmune hemolytic anemia, Absence of lymph node germin... OMIM:608184
Immunodeficiency 25
Complete or near-complete absence of specific antibody response to tetanus vaccine, T lymphocytop... OMIM:610163
Immunodeficiency 81
Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Reduced antigen-specific T ... OMIM:619374
Immunodeficiency, Common Variable, 2
Lymphadenopathy, Follicular hyperplasia, Impaired T cell function, Decreased circulating IgA leve... OMIM:240500
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Hepatosplenomegaly, Eosinophilia,... OMIM:619802
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Increased B cell count, Coombs-positive hemolytic anemia, ... OMIM:603909
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Gray matter heterotopia, Agyria, Pachygyria ORPHA:1084
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly OMIM:607624
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating antibody level, Pancytopenia, Lymphopenia,... ORPHA:859
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Immunodeficiency 19
Abnormal natural killer cell morphology, T lymphocytopenia, Abnormal B cell morphology OMIM:615617
Immunodeficiency 32A
Granuloma, Lymphadenopathy, Lymphadenitis OMIM:614893
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Absent isohemagglutinin level, Reduced natural killer cell activity, Incr... OMIM:615559
Hypotrichosis And Recurrent Skin Vesicles
Skin vesicle OMIM:613102
Immunodeficiency 68
Lymphadenitis, Abnormal natural killer cell count, T lymphocytopenia, B lymphocytopenia, Abscess OMIM:612260
Immunodeficiency 85 And Autoimmunity
Reduced natural killer cell count, T lymphocytopenia, Decreased circulating total IgM, Lymphopeni... OMIM:619510
Lymphoproliferative Syndrome, X-Linked, 1
Reduced natural killer cell activity, Decreased circulating antibody level, Lymphocytosis, Pancyt... OMIM:308240
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Abnormality of neuronal migration OMIM:618709
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy, Dysgammaglobulinemia ORPHA:158014
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... ORPHA:231154
Immunodeficiency 27A
Anemia, Enlarged mesenteric lymph node, Hepatosplenomegaly, Lymphadenopathy, Thrombocytosis, Leuk... OMIM:209950
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of memory B... OMIM:618204
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, Perianal abscess, Decrea... OMIM:618108
T-Cell Immunodeficiency With Thymic Aplasia
T lymphocytopenia, Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplen... OMIM:242700
Immunodeficiency 102
Leukopenia, Anemia, Reduced natural killer cell count, Decreased circulating total IgM, B lymphoc... OMIM:301082
Immunodeficiency 13
Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Decreased proportion ... OMIM:615518
Generalized Eruptive Histiocytosis
Hypereosinophilia, Lymphadenopathy, Histiocytosis, Leukemia ORPHA:157991
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
B lymphocytopenia, Lymphadenopathy, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocyto... OMIM:150550
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Gray matter heterotopia, Subcortical heterotopia, Encephalocele, Death in infancy, Agyria, Hydroc... OMIM:614643
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Porphyria Variegata
Milia, Localized skin lesion, Skin vesicle, Skin erosion ORPHA:79473
Autosomal Dominant Hyper-Ige Syndrome
Skin vesicle, Skin ulcer, Papule ORPHA:2314
Band Heterotopia
Gray matter heterotopia, Lateral ventricle dilatation, Hydrocephalus, Subcortical band heterotopi... OMIM:600348
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphadenitis, Abnormal natural killer cell count, Decreased circulating total IgM, Decreased lym... ORPHA:331206
Hennekam-Beemer Syndrome
Skin vesicle, Papule, Macule, Subcutaneous nodule, Erythema ORPHA:2135
Lissencephaly 5
Gray matter heterotopia, Optic atrophy, Hydrocephalus, Type II lissencephaly, Subcortical band he... OMIM:615191
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Lymphadenopathy, Increased circulating IgG ... OMIM:618495
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Decreased circulating antibody level, Pancytopenia, Autoimmune thrombocytopen... OMIM:613011
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Periventricular heterotopia, Optic atrophy, Simplified gyral pattern, Macular atroph... OMIM:616171
Alpha-Heavy Chain Disease
Anemia, Lymphadenopathy, Splenomegaly, Dysgammaglobulinemia ORPHA:100025
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Gray matter heterotopia, Abnormality of neuronal migration, Simplified gyral pattern, Lissencepha... OMIM:604317
Immunodeficiency 70
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Decreas... OMIM:618969
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Panhypogammaglobulinemia, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally... OMIM:602450
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Panhypogammaglobulinemia, T lymphocytopenia, B lymphocytopenia OMIM:601457
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating total IgM, Decreased circulating antibody level, Lymphopenia, Autoimmune th... OMIM:616100
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
Immunodeficiency With Hyper-Igm, Type 1
Abnormal circulating IgM level, Hemolytic anemia, Decreased T cell activation, Enlarged tonsils, ... OMIM:308230
Sweet Syndrome
Skin vesicle, Pyoderma gangrenosum, Skin nodule, Erythematous plaque, Erythematous papule ORPHA:3243
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... OMIM:619313
Leber Congenital Amaurosis
Abnormal optic disc morphology, Encephalocele, Abnormality of neuronal migration, Abnormality of ... ORPHA:65
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the spleen, Decreased proportion of CD4-positive h... ORPHA:543
Hemophagocytic Lymphohistiocytosis, Familial, 4
Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Neutropenia, Splenomegaly OMIM:603552
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, B lymphocytopenia, Decreased circulating total IgM, Lack of T cell function, D... ORPHA:35078
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Decreased... ORPHA:276
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Hemolytic anemia, T lymphocytopenia, B lymphocytopenia, Decreased propor... OMIM:606367
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, B lymphocytopenia, Lymphadenopathy, Increased circulating IgA level, Dec... OMIM:618048
Combined Immunodeficiency Due To Zap70 Deficiency
Abnormal lymph node morphology, Lymphadenitis, Decreased lymphocyte proliferation in response to ... ORPHA:911
X-Linked Lymphoproliferative Disease
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Cervi... ORPHA:2442
Immunodeficiency 98 With Autoinflammation, X-Linked
B lymphocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hemophagocytosis, Bone marrow hy... OMIM:301078
Lymphoproliferative Syndrome 2
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating antibody level, ... OMIM:615122
Schnitzler Syndrome
Anemia, Lymphadenopathy, Increased circulating IgM level, Leukocytosis, Splenomegaly ORPHA:37748
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Enla... OMIM:616005
Leishmaniasis
Leukopenia, Anemia, Abnormal macrophage morphology, Increased circulating antibody level, Pancyto... ORPHA:507
Acalvaria
Spina bifida, Holoprosencephaly, Hydrocephalus, Abnormality of neuronal migration ORPHA:945
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Tularemia
Anemia, Brain abscess, Increased circulating antibody level, Cutaneous abscess, Abnormal nasophar... ORPHA:3392
Immunodeficiency By Defective Expression Of Mhc Class Ii
Panhypogammaglobulinemia, T lymphocytopenia, Lack of T cell function, Decreased circulating antib... ORPHA:572
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Dyskeratosis Congenita
Skin vesicle, Skin ulcer, Hypopigmented skin patches, Macule, Aplasia/Hypoplasia of the skin, Hyp... ORPHA:1775
Follicular Lymphoma
Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy ORPHA:545
Polymicrogyria Due To Tubb2B Mutation
Gray matter heterotopia, Perisylvian polymicrogyria, Lateral ventricle dilatation, Lissencephaly,... ORPHA:300573
Indolent Systemic Mastocytosis
Mastocytosis, Lymphadenopathy, Increased proportion of CD25+ mast cells, Abnormal mast cell morph... ORPHA:98848
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Autoimmune throm... OMIM:619375
Subependymal Nodular Heterotopia
Meningocele, Gray matter heterotopia, Myelomeningocele, Abnormality of neuronal migration, Partia... ORPHA:101030
Leukocyte Adhesion Deficiency, Type Iii
Abnormal lymph node morphology, Anemia, Hepatosplenomegaly, Leukocytosis, Extramedullary hematopo... OMIM:612840
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:86893
Walker-Warburg Syndrome
Abnormality of neuronal migration, Optic atrophy, Abnormal cortical gyration, Retinal dystrophy, ... ORPHA:899
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Gray matter heterotopia, Optic atrophy, Macular hypoplasia, Simplified gyral pattern, Communicati... OMIM:615219
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenitis, Perianal abscess, Hemolytic anemia, Granuloma, Lymphopenia, Hepatosplenomegaly, Ly... OMIM:618935
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia ORPHA:217390
Hemimegalencephaly
Gray matter heterotopia, Pachygyria, Optic atrophy, Polymicrogyria ORPHA:99802
Boutonneuse Fever
Leukopenia, Lymphadenopathy, Increased circulating IgM level, Cervical lymphadenopathy, Thrombocy... ORPHA:83313
Aregenerative Anemia
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni... ORPHA:101096
Immunodeficiency 96
Decreased circulating total IgM, Increased proportion of gamma-delta T cells, Defective T cell pr... OMIM:619774
Poretti-Boltshauser Syndrome
Retinal atrophy, Retinal dystrophy, Gray matter heterotopia, Retinal thinning OMIM:615960
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Lymphadenopathy, Increased circulating IgA level, Leukocytosis, Increased circulati... OMIM:617099
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Neutropenia in presence of anti-neutro... OMIM:613179
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration ORPHA:1314
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration ORPHA:2216
Pgm3-Cdg
Leukopenia, Reduced natural killer cell count, T lymphocytopenia, Hemolytic anemia, Abnormal prop... ORPHA:443811
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal lymph node morphology, Anemia, Brain abscess, Liver abscess, Neutrophilia, Abnormality o... ORPHA:54251
Lissencephaly 6 With Microcephaly
Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Microlissencephaly, Partial... OMIM:616212
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy ORPHA:97290
Deafness-Lymphedema-Leukemia Syndrome
Lymphadenopathy, Abnormal neutrophil count, Bone marrow hypocellularity, Leukocytosis, Myeloproli... ORPHA:3226
Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:98293
Lissencephaly Syndrome, Norman-Roberts Type
Abnormal retinal morphology, Abnormality of neuronal migration, 4-layered lissencephaly, Microlis... ORPHA:89844
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Aplasia cutis congenita on trunk or limbs, Aplasia cutis congenita of scalp, Neonatal death OMIM:619817
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy ORPHA:319487
Leukocyte Adhesion Deficiency Type Ii
Skin vesicle ORPHA:99843
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Splenomegaly, Leukocytosis OMIM:611762
Neurocutaneous Melanocytosis
Meningocele, Abnormality of neuronal migration, Death in infancy, Abnormality of retinal pigmenta... ORPHA:2481
Immunodeficiency 7
Hypereosinophilia, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Splenomegaly OMIM:615387
Chikungunya
Petechiae, Skin vesicle, Macule, Erythema ORPHA:324625
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Classic Mycosis Fungoides
Lymphadenopathy, Splenomegaly, Abnormal lymphocyte morphology ORPHA:2584
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, Decreased circulating total IgM, B lymphocytopenia, Decreased specific antib... OMIM:614700
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Agenesis of corpus callosum, Pachygyria ORPHA:2512
Sézary Syndrome
Abnormal immunoglobulin level, Lymphadenopathy, Splenomegaly, Abnormal lymphocyte morphology ORPHA:3162
Cyclic Neutropenia
Perianal abscess, Decreased eosinophil count, Lymphopenia, Lymphadenopathy, Cyclic neutropenia, C... ORPHA:2686
Griscelli Syndrome
Leukopenia, Decreased circulating antibody level, Abnormality of neutrophils, Lymphadenopathy, Bo... ORPHA:381
Roifman Syndrome
Decreased T cell activation, Decreased circulating antibody level, Hepatosplenomegaly, Lymphadeno... ORPHA:353298
Immunodeficiency 54
Reduced natural killer cell count, Lymphadenopathy, Splenomegaly OMIM:609981
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal natural killer cell count, Anemia, Panhypogammaglobulinemia, T lymphocytopenia, Pancytop... ORPHA:79124
Aggressive Systemic Mastocytosis
Anemia, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of... ORPHA:98850
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Reticulocytosis, Bone marrow hypocellularity, Eosinophilia, Dec... ORPHA:3261
Griscelli Syndrome Type 2
Pancytopenia, Lymphadenopathy, Hemophagocytosis, Neutropenia, Splenomegaly ORPHA:79477
Omenn Syndrome
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, E... OMIM:603554
Agammaglobulinemia, X-Linked
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... OMIM:300755
Cinca Syndrome
Anemia, Hepatosplenomegaly, Lymphadenopathy, Leukocytosis, Eosinophilia OMIM:607115
Fish-Eye Disease
Lymphadenopathy, Splenomegaly ORPHA:79292
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration, Optic atrophy, Abnormality of retinal pigmentation ORPHA:44
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, Decreased circulating IgA level, T lymphocytopenia, Increased ... OMIM:242860
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphadenopathy, Eosinophi... OMIM:304790
Immunodeficiency 49
T lymphocytopenia, Decreased proportion of naive CD4 T cells, Lymphopenia, Abnormally low T cell ... OMIM:617237
Pfapa Syndrome
Lymphadenopathy, Splenomegaly ORPHA:42642
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Retinal dystrophy, Chorioretinal coloboma, Remnants of the hyaloid vascular system ORPHA:231736
Congenital Toxoplasmosis
Thrombocytopenia, Lymphadenopathy, Anemia ORPHA:858
Congenital Muscular Dystrophy With Cerebellar Involvement
Gray matter heterotopia, Optic atrophy, Hydrocephalus, Optic nerve hypoplasia, Type II lissenceph... ORPHA:370959
Gamma-Heavy Chain Disease
Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Thrombocytopen... ORPHA:100026
Primary Myelofibrosis
Anemia, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Lymphadenopathy, Thrombocytosis, Leukoc... ORPHA:824
Glutathionuria
Gray matter heterotopia, Agenesis of corpus callosum OMIM:231950
Thymic Aplasia
T lymphocytopenia, Decreased lymphocyte proliferation in response to mitogen, Coombs-positive hem... ORPHA:83471
Vici Syndrome
Gray matter heterotopia, Abnormal macular morphology, Death in infancy, Optic atrophy, Abnormalit... ORPHA:1493
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Morning glory anomaly, Optic nerve aplasia, Optic nerve ... OMIM:165550
Heme Oxygenase 1 Deficiency
Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Lymphadenopathy, Thrombocytosis, Ce... OMIM:614034
Immunodeficiency 40
Eosinophilic granuloma, Thrombocytopenia, Reduced antigen-specific T cell proliferation, T lympho... OMIM:616433
Immunodeficiency 17
Chronic decreased cirulating IgG2, T lymphocytopenia, Abnormal B cell morphology, Decreased propo... OMIM:615607
Congenital Muscular Dystrophy Without Intellectual Disability
Gray matter heterotopia, Pachygyria ORPHA:370980
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy OMIM:612783
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Decreased circulating antibody level, Lymphadenopathy, Microcytic anemia, Hepatosplenomegaly OMIM:619750
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Increased circulating antibody level, Lymphadenopathy ORPHA:69126
Classic Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Bone marrow hypocellularity ORPHA:391
Immunodeficiency 22
Anemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased circulating IgA lev... OMIM:615758
Cold Agglutinin Disease
Splenomegaly, Lymphadenopathy, Hemolytic anemia ORPHA:56425
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Increased circulating antibody level, Lymphopenia, Lymphadenopathy, Thrombocytopenia, Spl... OMIM:617591
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormality of neuronal migration, Pachygyria OMIM:608840
Chronic Graft Versus Host Disease
Skin vesicle, Skin ulcer, Intermittent generalized erythematous papular rash, Erythema ORPHA:99921
Acute Monoblastic/Monocytic Leukemia
Anemia, Lymphocytosis, Cervical lymphadenopathy, Acute monocytic leukemia, Leukocytosis, Hypochro... ORPHA:514
Dysplastic Cortical Hyperostosis
Abnormality of neuronal migration ORPHA:2204
Systemic Mastocytosis With Associated Hematologic Neoplasm
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... ORPHA:98849
Sting-Associated Vasculopathy, Infantile-Onset
Leukopenia, Anemia, Lymphopenia, Follicular hyperplasia, Thrombocytosis, Increased circulating Ig... OMIM:615934
Ataxia-Telangiectasia
Hypoplasia of the thymus, T lymphocytopenia, Decreased circulating IgG2 level, Acute lymphoblasti... OMIM:208900
Selective Igm Deficiency
Lymphadenitis, Decreased circulating IgG level, Decreased circulating total IgM, Neutropenia in p... ORPHA:331235
Immunodeficiency 55
Lymphadenopathy, Neutropenia, Absent natural killer cells, Lymphopenia OMIM:617827
Periventricular Nodular Heterotopia 7
Gray matter heterotopia, Optic disc pallor, Periventricular nodular heterotopia, Polymicrogyria OMIM:617201
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of neuronal migration, Optic atrophy, Abnormality of retinal pigmentation ORPHA:2518
Rhabdoid Tumor
Thrombocytopenia, Lymphadenopathy, Anemia ORPHA:69077
Macrophage Activation Syndrome
Abnormal natural killer cell count, Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, ... ORPHA:158061
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Monocytosis, Thrombocytopenia OMIM:619644
Omenn Syndrome
Anemia, Lymphadenopathy, Leukocytosis, Eosinophilia, Splenomegaly, Abnormal lymphocyte morphology ORPHA:39041
Chiari Malformation Type Ii
Gray matter heterotopia, Myelomeningocele, Spina bifida, Hydrocephalus, Cervical myelopathy, Agen... OMIM:207950
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Abnormal natural killer cell morphology, T lymphocytopenia, B lymphocytopenia OMIM:615966
Familial Hemophagocytic Lymphohistiocytosis
Anemia, Reduced natural killer cell activity, Decreased circulating antibody level, Lymphadenopat... ORPHA:540
Hyper-Igd Syndrome
Lymphadenitis, Neutrophilia, Increased circulating IgD level, Hepatosplenomegaly, Lymphadenopathy... OMIM:260920
Felty Syndrome
Anemia, Lymphadenopathy, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Splenomegaly... ORPHA:47612
Periventricular Nodular Heterotopia 1
Gray matter heterotopia, Abnormality of neuronal migration OMIM:300049
Coloboma, Ocular, Autosomal Dominant
Morning glory anomaly, Optic nerve aplasia, Remnants of the hyaloid vascular system, Chorioretina... OMIM:120200
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Thanatophoric Dysplasia Type 2
Holoprosencephaly, Hydrocephalus, Encephalocele, Abnormality of neuronal migration ORPHA:93274
Oculocerebrocutaneous Syndrome
Gray matter heterotopia, Agenesis of corpus callosum, Orbital encephalocele OMIM:164180
Hemophagocytic Lymphohistiocytosis, Familial, 2
Leukopenia, Anemia, Reduced natural killer cell activity, Pancytopenia, Hepatosplenomegaly, Lymph... OMIM:603553
Wiskott-Aldrich Syndrome
Decreased circulating total IgM, Reduced natural killer cell activity, Absent microvilli on the s... OMIM:301000
Joubert Syndrome 30
Gray matter heterotopia, Retinal dystrophy OMIM:617622
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Lymphadenopathy, Bone-marrow foam cells, Splenomegaly, Microcytic anemia OMIM:257200
Orotic Aciduria
Pyrimidine-responsive megaloblastic anemia, Poikilocytosis, Anisocytosis, Impaired T cell functio... OMIM:258900
Edinburgh Malformation Syndrome
Hydrocephalus, Abnormality of neuronal migration ORPHA:1895
Vici Syndrome
Leukopenia, T lymphocytopenia, Decreased T cell activation, Decreased circulating IgG2 level, Lym... OMIM:242840
Pleural Mesothelioma
Lymphadenopathy ORPHA:50251
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Rectal abscess, Impaired oxidative... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Rectal abscess, Impaired oxidative... OMIM:233710
Common Variable Immunodeficiency
Hemolytic anemia, Decreased circulating antibody level, Lymphopenia, Autoimmune thrombocytopenia,... ORPHA:1572
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Chediak-Higashi Syndrome
Leukopenia, Anemia, Giant neutrophil granules, Lymphadenopathy, Hemophagocytosis, Impaired neutro... OMIM:214500
Roifman Syndrome
Lymphadenopathy, Splenomegaly, Eosinophilia OMIM:616651
Cinca Syndrome
Anemia, Abnormal granulocyte morphology, Abnormality of neutrophils, Lymphadenopathy, Leukocytosi... ORPHA:1451
Diffuse Cutaneous Mastocytosis
Lymphocytosis, Abnormality of the spleen, Lymphadenopathy, Myeloproliferative disorder ORPHA:79456
Schimke Immuno-Osseous Dysplasia
Anemia, Lymphopenia, Abnormal lymphocyte physiology, Impaired T cell function, Bone marrow hypoce... ORPHA:1830
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Impaired T cell function, Thrombocytopenia, Decreased specific anti-polysaccharide ... OMIM:614576
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Rectal abscess, Impaired oxidative... OMIM:233690
Acute Promyelocytic Leukemia
Leukopenia, Anemia, Pancytopenia, Lymphadenopathy, Leukocytosis, Thrombocytopenia, Neutropenia ORPHA:520
Joubert Syndrome With Oculorenal Defect
Encephalocele, Abnormality of neuronal migration, Retinal dystrophy, Hydrocephalus, Chorioretinal... ORPHA:2318
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Splenomegaly ORPHA:85414
Desmoplastic Small Round Cell Tumor
Anemia, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:83469
Adult-Onset Still Disease
Neutrophilia, Generalized lymphadenopathy, Bone marrow hypocellularity, Leukocytosis, Splenomegaly ORPHA:829
Mevalonic Aciduria
Anemia, Increased circulating IgD level, Hepatosplenomegaly, Normocytic hypoplastic anemia, Lymph... OMIM:610377
3C Syndrome
Abnormality of neuronal migration, Optic atrophy, Death in infancy, Hydrocephalus, Chorioretinal ... ORPHA:7
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Exencephaly, Encephalocele, Abnormality of neuronal migration, Abnormal cortical gyration, Macrog... ORPHA:2211
Bare Lymphocyte Syndrome, Type Ii
Cutaneous anergy, Agammaglobulinemia, Neutropenia, Panhypogammaglobulinemia OMIM:209920
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration ORPHA:2772
Desmosterolosis
Abnormality of neuronal migration, Abnormal cortical gyration, Macrogyria, Hydrocephalus, Lissenc... ORPHA:35107
Castleman Disease
Anemia, Generalized lymphadenopathy, Decreased mean corpuscular volume, Lymphadenopathy, Follicul... ORPHA:160
Hereditary Orotic Aciduria
Anemia, Impaired T cell function, Splenomegaly ORPHA:30
Immunodeficiency 82 With Systemic Inflammation
Reduced natural killer cell count, Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circul... OMIM:619381
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation, Decreased proportion of CD4-positive helper T cells ORPHA:66628
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly OMIM:619183
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hypereosinophilia, T lymphocytopenia, Decreased circulating total IgM, Decreased lymphocyte proli... ORPHA:508533
Tetrasomy 18P
Abnormality of neuronal migration ORPHA:3307
Obesity Due To Leptin Receptor Gene Deficiency
Decreased T cell activation, Decreased proportion of CD4-positive helper T cells ORPHA:179494
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Congenital Disorder Of Deglycosylation 2
Gray matter heterotopia, Partial agenesis of the corpus callosum, Polymicrogyria, Retinal coloboma OMIM:619775
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia OMIM:619694
Legionnaires Disease
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly, Lymphopenia ORPHA:549
Hemophagocytic Lymphohistiocytosis, Familial, 1
Leukopenia, Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Splenomegaly OMIM:267700
Lig4 Syndrome
Leukocytosis, Lymphadenopathy, Acute leukemia, Pancytopenia ORPHA:99812
Thanatophoric Dysplasia
Gray matter heterotopia, Hydrocephalus ORPHA:2655
Persistent Hyperplastic Primary Vitreous
Retinal fold, Tractional retinal detachment, Macular hypoplasia, Hyaloid vascular remnant and ret... ORPHA:91495
Acromelic Frontonasal Dysostosis
Gray matter heterotopia, Encephalocele, Periventricular nodular heterotopia, Optic nerve hypoplas... OMIM:603671
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia OMIM:617008
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Decreased T cell activation, Perianal abscess, Defective T cell proliferation, Increased circulat... OMIM:618213
Multiple Myeloma
Anemia, Decreased circulating antibody level, Lymphadenopathy, Increased circulating IgA level, I... ORPHA:29073
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Thrombocytopenia, Lymphadenopathy, Splenomegaly ORPHA:169090
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukopenia, Anemia, Decreased circulating antibody level, Lymphopenia, Pancytopenia, Hepatospleno... OMIM:615688
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Thanatophoric Dysplasia, Type I
Gray matter heterotopia, Neonatal death, Hydrocephalus OMIM:187600
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy, Increased circulating IgA level ORPHA:343
Spondyloenchondrodysplasia With Immune Dysregulation
T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Lymphadenopathy, Neutropenia OMIM:607944
Joubert Syndrome
Hydrocephalus, Encephalocele, Abnormality of neuronal migration, Polymicrogyria ORPHA:475
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Leukopenia, Anemia, Lymphocytosis, Generalized lymphadenopathy, L... ORPHA:50918
Cutaneous Mastocytoma
Lymphadenopathy ORPHA:79455
Alkuraya-Kucinskas Syndrome
Gray matter heterotopia, Hydrocephalus, Webbed neck, Lissencephaly OMIM:617822
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Liver abscess, Granuloma, Granulomatosis, Lymphadenopathy, Rectal abscess, Impaire... OMIM:306400
Pediatric Systemic Lupus Erythematosus
Leukopenia, Microangiopathic hemolytic anemia, Lymphopenia, Lymphadenopathy, Thrombocytopenia ORPHA:93552
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Mixed Connective Tissue Disease
Leukopenia, Hemolytic anemia, Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly ORPHA:809
Nephroblastoma
Lymphadenopathy ORPHA:654
Immunodeficiency 31C
Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic ane... OMIM:614162
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration OMIM:300957
Chédiak-Higashi Syndrome
Anemia, Neutropenia, Abnormal platelet function, Pancytopenia, Hepatosplenomegaly, Lymphadenopath... ORPHA:167
Igg4-Related Submandibular Gland Disease
Increased circulating IgG4 level, Increased circulating antibody level, Increased circulating IgE... ORPHA:449432
American Trypanosomiasis
Lymphadenopathy, Splenomegaly ORPHA:3386
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Coffin-Lowry Syndrome
Death in early adulthood, Abnormality of neuronal migration, Optic atrophy, Abnormality of retina... ORPHA:192
Scrub Typhus
Lymphadenopathy, Splenomegaly ORPHA:83317
Waldenström Macroglobulinemia
Leukemia, Normocytic anemia, Abnormality of neutrophils, Lymphadenopathy, Monoclonal immunoglobul... ORPHA:33226
Hereditary Amyloidosis With Primary Renal Involvement
Abnormal lymph node morphology, Anemia, Lymphadenopathy, Hepatosplenomegaly ORPHA:85450
Neu-Laxova Syndrome
Abnormality of neuronal migration, Abnormal cortical gyration, Spina bifida, Macrogyria, Lissence... ORPHA:2671
Cutaneous Neuroendocrine Carcinoma
Chronic noninfectious lymphadenopathy, Lymphoid leukemia ORPHA:79140
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Lymphadenopathy, Cervical lymphadenopathy, Thrombocytopenia, Decreased mean platel... OMIM:617718
Peroxisome Biogenesis Disorder 13A (Zellweger)
Gray matter heterotopia, Neonatal death, Polymicrogyria OMIM:614887
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Optic nerve dysplasia, Gray matter heterotopia, Anencephaly, Hydrocephalus, Communicating hydroce... OMIM:615287
Carnitine Palmitoyltransferase Ii Deficiency
Abnormality of neuronal migration, Hydrocephalus, Pachygyria, Agenesis of corpus callosum, Polymi... ORPHA:157
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Lateral ventricle dilatation, Polymicrogyria OMIM:617397
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function, Splenomegaly OMIM:201100
Galloway-Mowat Syndrome
Abnormality of neuronal migration, Aqueductal stenosis, Pachygyria ORPHA:2065
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenitis, Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly OMIM:615895
Joubert Syndrome With Hepatic Defect
Abnormality of neuronal migration, Hydrocephalus, Chorioretinal coloboma, Occipital encephalocele... ORPHA:1454
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphocytosis, Lymphadenopathy, Eosinophilia ORPHA:139402
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Increased circ... ORPHA:37042
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Polymicrogyria, Abnormality of neuronal migration, Agenesis of corpus callosum, Death in infancy OMIM:608836
Aicardi Syndrome
Gray matter heterotopia, Optic atrophy, Lateral ventricle dilatation, Spina bifida, Partial agene... OMIM:304050
Pierson Syndrome
Retinal hemorrhage, Macular hypoplasia, Retinal vascular tortuosity, Hypopigmentation of the fund... OMIM:609049
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Thymic Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Neoplasm of the thymus, Mediastinal lymphadenopathy ORPHA:97289
Orofaciodigital Syndrome Xvi
Gray matter heterotopia, Retinopathy OMIM:617563
Klatskin Tumor
Lymphadenopathy ORPHA:99978
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia, Hydrocephalus OMIM:219730
Poems Syndrome
Increased circulating antibody level, Thrombocytosis, Lymphadenopathy, Polycythemia ORPHA:2905
Medullary Thyroid Carcinoma
Lymphadenopathy ORPHA:1332
Hypocomplementemic Urticarial Vasculitis
Lymphadenopathy, Splenomegaly ORPHA:36412
Radio-Tartaglia Syndrome
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619312
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Lymph... ORPHA:391487
Q Fever
Anemia, Granuloma, Increased circulating antibody level, Hepatosplenomegaly, Lymphadenopathy, Thr... ORPHA:781
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Progeria-Short Stature-Pigmented Nevi Syndrome
T lymphocytopenia, Microcytic anemia ORPHA:2959
Pagod Syndrome
Meningocele, Encephalocele, Abnormality of neuronal migration, Optic atrophy, Death in infancy, S... ORPHA:991
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormality of neuronal migration, Hydrocephalus, Pachygyria, Agenesis of corpus callosum, Polymi... ORPHA:228308
Sarcoidosis, Susceptibility To, 1
Increased circulating antibody level, Abnormality of T cell physiology, Generalized lymphadenopat... OMIM:181000
Holoprosencephaly 14
Gray matter heterotopia, Aqueductal stenosis, Periventricular heterotopia, Hydrocephalus, Alobar ... OMIM:619895
Van Maldergem Syndrome 1
Gray matter heterotopia, Simplified gyral pattern, Periventricular nodular heterotopia, Subcortic... OMIM:601390
Thanatophoric Dysplasia Type 1
Gray matter heterotopia, Hydrocephalus ORPHA:1860
Nijmegen Breakage Syndrome
T lymphocytopenia, B lymphocytopenia, Autoimmune hemolytic anemia, Dysgammaglobulinemia, Thromboc... OMIM:251260
Acute Interstitial Pneumonia
Lymphadenopathy, Reduced hematocrit ORPHA:79126
Peroxisome Biogenesis Disorder 1A (Zellweger)
Gray matter heterotopia, Optic disc pallor, Death in childhood, Pigmentary retinopathy, Polymicro... OMIM:214100
Hennekam Syndrome
Decreased circulating antibody level, Pulmonary lymphangiectasia, Lymphopenia, Lymphadenopathy, S... ORPHA:2136
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
16P13.11 Microdeletion Syndrome
Holoprosencephaly, Abnormality of neuronal migration, Agenesis of corpus callosum ORPHA:261236
Full Nf2-Related Schwannomatosis
Retinal hamartoma, Hydrocephalus, Epiretinal membrane, Remnants of the hyaloid vascular system, M... ORPHA:637
Malt Lymphoma
Anemia, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:52417
Brucellosis
Leukopenia, Anemia, Liver abscess, Hypersplenism, Granuloma, Lung abscess, Lymphadenopathy, Throm... ORPHA:1304
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration ORPHA:2063
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal nonattachment, Retinal fold, Remnants of the hyaloid vascular system OMIM:221900
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Graft Versus Host Disease
Lymphadenopathy, Hemophagocytosis, Hepatosplenomegaly ORPHA:39812
Holoprosencephaly
Spinal dysraphism, Retinopathy, Encephalocele, Optic atrophy, Abnormality of neuronal migration, ... ORPHA:2162
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Aplasia of the thymus, T lymphocytopenia, Abnormal B cell morphology OMIM:618223
Pancreatoblastoma
Abnormal lymph node morphology ORPHA:677
Carney Triad
Anemia, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:139411
Lymphatic Filariasis
Hypereosinophilia, Lymphangiectasis, Lymphadenitis, Lymphadenopathy, Abnormality of the lymphatic... ORPHA:2035
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Gray matter heterotopia, Neonatal death, Frontal polymicrogyria, Pachygyria OMIM:620024
Immunodeficiency 58
Decreased T cell activation, Decreased circulating antibody level, Cutaneous abscess, Recurrent c... OMIM:618131
Bohring-Opitz Syndrome
Abnormal optic nerve morphology, Gray matter heterotopia, Agenesis of corpus callosum OMIM:605039
Farber Disease
Thrombocytopenia, Lymphadenopathy, Anemia, Hepatosplenomegaly ORPHA:333
Tangier Disease
Anemia, Hepatosplenomegaly, Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Thr... ORPHA:31150
Coccidioidomycosis
Granuloma, Lymphadenopathy, Eosinophilia, Increased circulating IgM level, Mediastinal lymphadeno... ORPHA:228123
Primary Sjögren Syndrome
Leukopenia, Decreased circulating antibody level, Increased circulating antibody level, Normocyti... ORPHA:289390
H Syndrome
Lymphadenopathy, Histiocytosis, Microcytic anemia, Hepatosplenomegaly ORPHA:168569
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Lymphadenopathy, Cervical lymphadenopathy, Histiocytosis, Splenomegaly OMIM:602782
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia ORPHA:531151
Familial Pancreatic Carcinoma
Lymphadenopathy, Peritoneal abscess, Hepatosplenomegaly ORPHA:1333
Immunodeficiency 87 And Autoimmunity
Decreased CD4:CD8 ratio, Hemolytic anemia, Abnormal lymphocyte proliferation, Lymphopenia, Decrea... OMIM:619573
Alg11-Cdg
Gray matter heterotopia ORPHA:280071
6Q Terminal Deletion Syndrome
Gray matter heterotopia, Periventricular heterotopia, Abnormality of neuronal migration, Colpocep... ORPHA:75857
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia OMIM:618797
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgG4 level, Lymphadenopathy, Increased circulating IgA level, Increased cir... ORPHA:79078
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormality of neuronal migration ORPHA:163681
Cerebrofacioarticular Syndrome
Gray matter heterotopia, Dysplastic corpus callosum, Agenesis of corpus callosum ORPHA:314679
Pulmonary Capillary Hemangiomatosis
Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:199241
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Anemia, Polysplenia, Lymphadenopathy, Accessory spleen, Splenomegaly OMIM:619418
Miller-Dieker Lissencephaly Syndrome
Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria OMIM:247200
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Retinal detachment, Optic disc pallor, Abnormality of neuronal migration ORPHA:464311
Van Maldergem Syndrome 2
Gray matter heterotopia, Subcortical band heterotopia, Periventricular nodular heterotopia OMIM:615546
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia OMIM:608624
Arima Syndrome
Gray matter heterotopia, Optic atrophy, Retinal dystrophy, Chorioretinal coloboma, Occipital meni... OMIM:243910
Multiple Acyl-Coa Dehydrogenase Deficiency
Gray matter heterotopia ORPHA:26791
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Gray matter heterotopia, Lateral ventricle dilatation, Death in infancy, Abnormal cortical gyrati... OMIM:210710
Marburg Hemorrhagic Fever
Leukopenia, Increased circulating antibody level, Reticulocytosis, Lymphopenia, Lymphadenopathy, ... ORPHA:99826
Holoprosencephaly 2
Semilobar holoprosencephaly, Alobar holoprosencephaly, Remnants of the hyaloid vascular system, H... OMIM:157170
Crimean-Congo Hemorrhagic Fever
Leukopenia, Neutrophilia, Pancytopenia, Lymphadenopathy, Leukocytosis, Increased circulating IgM ... ORPHA:99827
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Anemia, Lymphadenopathy, Hepatosplenomegaly ORPHA:85408
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Lymphadenopathy, Splenomegaly, Leukocytosis ORPHA:32960
Opitz-Kaveggia Syndrome
Partial agenesis of the corpus callosum, Gray matter heterotopia, Hydrocephalus OMIM:305450
Genitourinary And/Or Brain Malformation Syndrome
Gray matter heterotopia, Colpocephaly, Holoprosencephaly, Dysplastic corpus callosum, Agenesis of... OMIM:618820
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating antibody level, Lymphadenopathy, Increased circulating IgA level, Thrombocy... OMIM:256040
Orofaciodigital Syndrome I
Gray matter heterotopia, Myelomeningocele, Abnormal cortical gyration, Hydrocephalus, Agenesis of... OMIM:311200
Orofaciodigital Syndrome Type 6
Abnormality of neuronal migration ORPHA:2754
Hydrolethalus Syndrome 1
Gray matter heterotopia, Abnormal cortical gyration, Anencephaly, Arrhinencephaly, Stillbirth, Se... OMIM:236680
Sarcoidosis
Abnormal lymph node morphology, Leukopenia, Anemia, Hemolytic anemia, Increased T cell count, Lym... ORPHA:797
Igg4-Related Ophthalmic Disease
Lymphadenopathy, Increased circulating IgG4 level, Increased circulating IgE level, Eosinophilia ORPHA:449563
Igg4-Related Kidney Disease
Lymphadenitis, Increased circulating IgG4 level, Increased circulating IgG level, Lymphadenopathy... ORPHA:449395
Koolen-De Vries Syndrome
Gray matter heterotopia OMIM:610443
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Abnormal optic nerve morphology, Gray matter heterotopia, Agenesis of corpus callosum, Optic nerv... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Abnormal optic nerve morphology, Gray matter heterotopia, Agenesis of corpus callosum, Optic nerv... ORPHA:352665
Ileal Neuroendocrine Tumor
Iron deficiency anemia, Lymphadenopathy ORPHA:100078
Jejunal Neuroendocrine Tumor
Iron deficiency anemia, Lymphadenopathy ORPHA:100077
22Q11.2 Deletion Syndrome
Hypoplasia of the thymus, Impaired T cell function, Abnormality of the tonsils, Thrombocytopenia,... ORPHA:567
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia, Agenesis of corpus callosum OMIM:276300
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Holoprosencephaly, Abnormality of neuronal migration ORPHA:3186
Bilateral Perisylvian Polymicrogyria
Bilateral perisylvian polymicrogyria, Abnormality of neuronal migration, Perisylvian predominant ... ORPHA:98889
Duodenal Neuroendocrine Tumor
Increased hematocrit, Iron deficiency anemia, Lymphadenopathy ORPHA:100076
Lymphangioleiomyomatosis
Lymphadenopathy, Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system ORPHA:538
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Gray matter heterotopia ORPHA:453499
Velocardiofacial Syndrome
Impaired T cell function OMIM:192430
Periventricular Nodular Heterotopia 9
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria OMIM:618918
Familial Mediterranean Fever
Lymphadenopathy, Splenomegaly ORPHA:342
Fontaine Progeroid Syndrome
Gray matter heterotopia, Periventricular heterotopia, Death in infancy, Hydrocephalus, Neonatal d... OMIM:612289
Norrie Disease
Optic atrophy, Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, Retina... ORPHA:649
Autosomal Recessive Malignant Osteopetrosis
Anemia, Lymphadenopathy, Splenomegaly ORPHA:667
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
Microphthalmia, Syndromic 2
Retinal detachment, Remnants of the hyaloid vascular system OMIM:300166
Nijmegen Breakage Syndrome
Abnormality of neuronal migration ORPHA:647
Digeorge Syndrome
Anemia, Hypoplasia of the thymus, Abnormality of the thymus, Impaired T cell function, Thrombocyt... OMIM:188400
Cushing Syndrome Due To Ectopic Acth Secretion
Abnormal lymph node morphology, Neoplasm of the thymus, Decreased eosinophil count, Lymphopenia, ... ORPHA:99889
Behçet Disease
Lymphadenopathy, Splenomegaly ORPHA:117
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function OMIM:176690
Proteus Syndrome
Gray matter heterotopia, Retinal hamartoma, Abnormality of retinal pigmentation, Retinal nonattac... ORPHA:744
Neuroocular Syndrome
Hypoplasia of the fovea, Remnants of the hyaloid vascular system OMIM:619539
Blau Syndrome
Anemia, Lymphadenopathy, Splenomegaly ORPHA:90340
Leptospirosis
Thrombocytopenia, Lymphadenopathy ORPHA:509
African Trypanosomiasis
Lymphadenopathy, Splenomegaly, Hepatosplenomegaly ORPHA:3385
Junctional Epidermolysis Bullosa With Pyloric Atresia
Aplasia cutis congenita ORPHA:79403

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 Itga6

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 Itga6.

No publications found that use IMPC mice or data for Itga6.

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