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 of scalp, Aplasia cutis congenita on trunk or limbs, 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
Splenomegaly, Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Hypersplenism OMIM:183350
Immunodeficiency 18
Defective T cell proliferation, Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Reticular Dysgenesis
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Impaired T cell function, Leukope... OMIM:267500
Immunodeficiency 24
Defective T cell proliferation, Decreased circulating IgG level, Lymphopenia, Decreased specific ... OMIM:615897
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia OMIM:233650
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Immunodeficiency 105
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Hepatosplenomegaly... OMIM:619924
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating IgG level, Cervical lymphadenopathy, Abnormally low T cell receptor excisio... OMIM:618987
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphopenia, Absent specific antibody response, Follicular hyperplasia, Autoimmune thrombocytopen... OMIM:619846
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Skin erosion, Localized skin lesion, Keloids, Skin vesicle, Milia, Erythematous papule, Atrophic ... ORPHA:79410
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... OMIM:615513
Pemphigoid Gestationis
Skin vesicle ORPHA:63275
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Decreased circulating IgG level, Lym... OMIM:247630
Familial Benign Chronic Pemphigus
Skin vesicle, Erythema, Skin erosion ORPHA:2841
Erythema Elevatum Diutinum
Skin vesicle, Skin nodule ORPHA:90000
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Darier Disease
Macule, Acrokeratosis, Hypermelanotic macule, Skin vesicle, Plantar pits ORPHA:218
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Pulmonary Nodular Lymphoid Hyperplasia
Follicular hyperplasia, Mediastinal lymphadenopathy, Plasmacytosis ORPHA:60026
Immunodeficiency 40
Lymphopenia OMIM:616433
Kimura Disease
Eosinophilia, Increased circulating IgE level, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Pruritic Urticarial Papules And Plaques Of Pregnancy
Palmoplantar erythema, Facial erythema, Erythematous plaque, Striae distensae, Erythematous papul... ORPHA:64745
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Partial absence of spe... OMIM:618261
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgM level... OMIM:608106
Caspase 8 Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... OMIM:607271
Immunodeficiency 64
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgA level, Decre... OMIM:618534
Dowling-Degos Disease
Hypermelanotic macule, Epidermoid cyst, Hypopigmented macule, Skin vesicle, Digital pitting scar,... ORPHA:79145
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... OMIM:605258
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... OMIM:212050
Wells Syndrome
Skin vesicle ORPHA:901
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:611926
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Mediastinal lymphadenopathy,... OMIM:300853
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... OMIM:619126
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Immunodeficiency 76
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy OMIM:619164
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria OMIM:615411
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Lymphopenia, Absence of lymph node germinal center, T lymphocytopenia, B... ORPHA:277
Immunodeficiency 52
Lymphopenia, Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Splen... OMIM:617514
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Increased circulating IgG level, Increased B cell count, Increased circulatin... OMIM:618982
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Thrombocytope... OMIM:614493
Lissencephaly, X-Linked, 1
Gray matter heterotopia, Agyria, Lissencephaly, Death in infancy, Pachygyria, Agenesis of corpus ... OMIM:300067
Dermatitis Herpetiformis
Skin vesicle, Macule, Erythema ORPHA:1656
Pemphigus Foliaceus
Skin erosion, Erythema, Serpiginous cutaneous lesion, Annular cutaneous lesion, Erythematous plaq... ORPHA:79481
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:300400
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Gray matter heterotopia, Polymicrogyria, Lissencephaly, Abnormality of neuronal migration, Simpli... OMIM:604317
Pyoderma Gangrenosum
Skin ulcer, Skin vesicle, Papule, Atrophic scars ORPHA:48104
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Aplasia/Hypoplasia of the skin, Skin vesicle, Papule, Dermal atrophy ORPHA:257
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Anemia, ... ORPHA:169079
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Skin vesicle, Erythema migrans ORPHA:158681
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
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... OMIM:601859
Lichen Planus Pemphigoides
Skin vesicle ORPHA:254478
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... ORPHA:169154
Band Heterotopia
Hydrocephalus, Gray matter heterotopia, Polymicrogyria, Subcortical band heterotopia, Agenesis of... OMIM:600348
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoim... OMIM:614470
Immunodeficiency 50
Neutropenia, Decreased circulating antibody level, Lymphopenia OMIM:300988
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:607594
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, Absent peripheral lymph ... OMIM:600802
Immunodeficiency 104
Lymphadenopathy, T lymphocytopenia, Splenomegaly OMIM:608971
Kerion Celsi
Lymphadenopathy, Recurrent cutaneous abscess formation ORPHA:499
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:615544
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Autoimmune hemolytic an... ORPHA:444463
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:312863
Sub-Cortical Nodular Heterotopia
Abnormality of neuronal migration, Agenesis of corpus callosum, Subcortical heterotopia, Polymicr... ORPHA:101029
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased lymphocyte proliferation in response to anti-CD3, Partial absence of specific antibody ... OMIM:618986
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Lissencephaly 3
Gray matter heterotopia, Polymicrogyria, Agyria, Lissencephaly, Pachygyria, Agenesis of corpus ca... OMIM:611603
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Gray matter heterotopia, Dysgyria, Type II lissencephaly, Optic atrophy, Occipital... ORPHA:352682
Chudley-Mccullough Syndrome
Hydrocephalus, Dysplastic corpus callosum, Gray matter heterotopia, Polymicrogyria, Partial agene... OMIM:604213
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis OMIM:247800
Microlissencephaly
Periventricular heterotopia, Polymicrogyria, Lissencephaly, Simplified gyral pattern, Pachygyria,... ORPHA:1083
Immunodeficiency 7
Lymphadenopathy, Hypereosinophilia OMIM:615387
Periventricular Nodular Heterotopia 7
Optic atrophy, Periventricular nodular heterotopia, Gray matter heterotopia OMIM:617201
Pyknoachondrogenesis
Stillbirth OMIM:265880
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, Decreased proportion of C... OMIM:617241
Mu-Heavy Chain Disease
Increased circulating antibody level, Splenomegaly, Abnormal B cell count, Anemia, Lymphadenopathy ORPHA:100024
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Decreased circulating antib... OMIM:613101
Iga Pemphigus
Annular cutaneous lesion, Skin vesicle, Skin plaque, Skin erosion ORPHA:555905
Mast Cell Sarcoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Mastocytosis ORPHA:66661
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Autoimmune thrombocytopenia,... OMIM:608184
Immunodeficiency 25
Increased circulating IgA level, Eosinophilia, Complete or near-complete absence of specific anti... OMIM:610163
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le... OMIM:619374
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Partial absence o... OMIM:240500
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... OMIM:603909
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Agyria, Pachygyria, Gray matter heterotopia ORPHA:1084
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Decreased proportion of CD4+CD25+ regulatory T cells, Monocytopenia, Lymphadeno... OMIM:619802
Transcobalamin Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... ORPHA:859
Griscelli Syndrome, Type 2
Hepatosplenomegaly, Reduced delayed hypersensitivity, Hemophagocytosis OMIM:607624
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... OMIM:619510
Immunodeficiency 68
Lymphadenitis, Abscess, B lymphocytopenia, T lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Absent isohemagglutinin level, Splenomegaly, Increased prop... OMIM:615559
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Decreased circulating IgG level, Lymphocytosis, Hemophagocytosis, Splenomegaly, Apla... OMIM:308240
Hypotrichosis And Recurrent Skin Vesicles
Skin vesicle OMIM:613102
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy, Dysgammaglobulinemia ORPHA:158014
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... ORPHA:231154
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Perianal abscess, Par... OMIM:618108
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, In... OMIM:209950
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... OMIM:618204
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Hydrocephalus OMIM:618709
T-Cell Immunodeficiency With Thymic Aplasia
Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision circle level, Hepatos... OMIM:242700
Immunodeficiency 13
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Immunodeficiency 102
Decreased circulating IgA level, Partial absence of specific antibody response to Haemophilus inf... OMIM:301082
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia, Panhypogammaglobulinemia OMIM:601457
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... OMIM:150550
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly OMIM:618852
Autosomal Dominant Hyper-Ige Syndrome
Skin ulcer, Skin vesicle, Papule ORPHA:2314
Lissencephaly 5
Hydrocephalus, Gray matter heterotopia, Type II lissencephaly, Optic atrophy, Subcortical band he... OMIM:615191
Porphyria Variegata
Skin vesicle, Milia, Skin erosion, Localized skin lesion ORPHA:79473
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Abnor... ORPHA:331206
Hennekam-Beemer Syndrome
Macule, Erythema, Papule, Subcutaneous nodule, Skin vesicle ORPHA:2135
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Splenomegaly, Increased circulating IgG level, Autoimmune hemolytic anemia, Lymphadenopathy, Decr... OMIM:618495
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Thrombocy... OMIM:613011
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
Immunodeficiency 70
Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Decreased ci... OMIM:618969
Alpha-Heavy Chain Disease
Anemia, Lymphadenopathy, Dysgammaglobulinemia, Splenomegaly ORPHA:100025
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor excision circle ... OMIM:602450
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Splenomegaly, Decr... OMIM:616100
Sweet Syndrome
Erythematous plaque, Erythematous papule, Skin nodule, Skin vesicle, Pyoderma gangrenosum ORPHA:3243
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgA level... OMIM:308230
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Decreased cir... ORPHA:35078
Leber Congenital Amaurosis
Abnormality of neuronal migration, Encephalocele, Abnormality of retinal pigmentation, Abnormal o... ORPHA:65
Burkitt Lymphoma
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Abnormality of th... ORPHA:543
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Decreased lymphocyte proliferation in response to anti-CD3, Hypoplasia of the thymus, B lymphocyt... OMIM:619313
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Lymphadenopathy OMIM:603552
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, Increased proport... ORPHA:2442
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Remnants of the hyaloid vascular system, Gray matter heterotopia, Hydrocephalus, Encephalocele, O... OMIM:614643
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Decre... ORPHA:276
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp... OMIM:606367
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgA level, Abnormal circulating IgM level, Increased circulating IgG level,... OMIM:618048
Combined Immunodeficiency Due To Zap70 Deficiency
Decreased lymphocyte proliferation in response to mitogen, Lymphocytosis, Abnormality of the lymp... ORPHA:911
Immunodeficiency 98 With Autoinflammation, X-Linked
Decreased circulating IgG level, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytope... OMIM:301078
Lymphoproliferative Syndrome 2
Decreased lymphocyte proliferation in response to mitogen, Hemophagocytosis, Splenomegaly, Hepato... OMIM:615122
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Increased circulating IgM level, Anemia, Lymphadenopathy ORPHA:37748
Immunodeficiency 36
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Enlarged tonsils, ... OMIM:616005
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Acalvaria
Abnormality of neuronal migration, Hydrocephalus, Spina bifida, Holoprosencephaly ORPHA:945
Leishmaniasis
Increased circulating antibody level, Splenomegaly, Leukopenia, Abnormal macrophage morphology, T... ORPHA:507
Immunodeficiency By Defective Expression Of Mhc Class Ii
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Neutropenia, ... ORPHA:572
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Splenomegaly, Mastocytosis, Increased proportion of CD25+ mast cel... ORPHA:98848
Tularemia
Cutaneous abscess, Increased circulating antibody level, Abnormal nasopharyngeal adenoid morpholo... ORPHA:3392
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly ORPHA:545
Dyskeratosis Congenita
Macule, Hypermelanotic macule, Aplasia/Hypoplasia of the skin, Skin ulcer, Skin vesicle, Hypopigm... ORPHA:1775
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decreased proportion... OMIM:619375
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:86893
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Abnormality of the lymph nodes, Extramedullary hematopoiesis, Splenomegaly, Hepatos... OMIM:612840
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydrocephalus, Gray matter heterotopia, Anencephaly, Agenesis of corpus callosum, Optic nerve dys... OMIM:615287
Walker-Warburg Syndrome
Hydrocephalus, Retinal detachment, Retinal dysplasia, Agenesis of corpus callosum, Abnormal corti... ORPHA:899
Omenn Syndrome
Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B lymphocytopenia... OMIM:603554
Subependymal Nodular Heterotopia
Myelomeningocele, Gray matter heterotopia, Nasofrontal encephalocele, Polymicrogyria, Partial age... ORPHA:101030
Hemimegalencephaly
Optic atrophy, Pachygyria, Gray matter heterotopia, Polymicrogyria ORPHA:99802
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Gray matter heterotopia, Communicating hydrocephalus, Optic atrophy, Lissencephaly, Macular hypop... OMIM:615219
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphopenia, Recurrent tonsillitis, Splenomegaly, Hepatosplenomegaly, Lymphadenitis, Abscess, Hem... OMIM:618935
Poretti-Boltshauser Syndrome
Gray matter heterotopia, Retinal thinning, Retinal atrophy, Retinal dystrophy OMIM:615960
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level, B lymphocytopenia, T lymphocytopenia ORPHA:217390
Aregenerative Anemia
Abnormal proportion of CD8-positive T cells, Neutropenia, Thrombocytopenia, Erythroid hypoplasia,... ORPHA:101096
Boutonneuse Fever
Cervical lymphadenopathy, Leukopenia, Increased circulating IgG level, Thrombocytopenia, Increase... ORPHA:83313
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Thrombocytopenia OMIM:617718
Immunodeficiency 96
Increased mean corpuscular volume, Decreased circulating IgA level, Defective T cell proliferatio... OMIM:619774
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Neutrophilia, Leukocytosis, Increased circulating IgM level, Inc... OMIM:617099
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Neutropenia in presence of anti-neutro... OMIM:613179
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration ORPHA:2216
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Abnormality of the lymph nodes, Brain abscess, Abnormality of the lymphatic system,... ORPHA:54251
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration ORPHA:1314
Pgm3-Cdg
Cutaneous abscess, Abnormal proportion of CD8-positive T cells, Increased circulating IgA level, ... ORPHA:443811
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Gray matter heterotopia, Polymicrogyria, Lateral ventricle dilatation... ORPHA:300573
Lissencephaly Syndrome, Norman-Roberts Type
4-layered lissencephaly, Abnormal retinal morphology, Abnormality of neuronal migration, Microlis... ORPHA:89844
Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:98293
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Thrombocytopenia, Abnormal neutrophil co... ORPHA:3226
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes ORPHA:97290
Lissencephaly 6 With Microcephaly
Periventricular heterotopia, Pachygyria, Polymicrogyria, Partial agenesis of the corpus callosum,... OMIM:616212
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Aplasia cutis congenita of scalp, Aplasia cutis congenita on trunk or limbs, Neonatal death OMIM:619817
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes ORPHA:319487
Leukocyte Adhesion Deficiency Type Ii
Skin vesicle ORPHA:99843
Chikungunya
Skin vesicle, Macule, Petechiae, Erythema ORPHA:324625
Granulomatous Slack Skin
Abnormality of the lymph nodes ORPHA:33111
Neurocutaneous Melanocytosis
Abnormality of retinal pigmentation, Death in infancy, Meningocele, Abnormality of neuronal migra... ORPHA:2481
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Lymphadenopathy, Splenomegaly ORPHA:2584
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly OMIM:611762
Autosomal Recessive Primary Microcephaly
Pachygyria, Gray matter heterotopia, Agenesis of corpus callosum ORPHA:2512
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... OMIM:614700
Sézary Syndrome
Abnormal lymphocyte morphology, Lymphadenopathy, Abnormal immunoglobulin level, Splenomegaly ORPHA:3162
Cyclic Neutropenia
Lymphopenia, Recurrent tonsillitis, Cervical lymphadenopathy, Thrombocytopenia, Cyclic neutropeni... ORPHA:2686
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatosplenomegaly, Absence of lymph node germinal center, Panhypogammaglobulinemia, T lymphocyto... ORPHA:79124
Griscelli Syndrome
Splenomegaly, Leukopenia, Thrombocytopenia, Abnormality of neutrophils, Decreased circulating ant... ORPHA:381
Immunodeficiency 54
Lymphadenopathy, Reduced natural killer cell count, Splenomegaly OMIM:609981
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Aggressive Systemic Mastocytosis
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, I... ORPHA:98850
Agammaglobulinemia, X-Linked
Decreased circulating IgA level, Decreased circulating IgG level, Complete or near-complete absen... OMIM:300755
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Bone marrow hypocellularity, Reticulocytosis, Abnorm... ORPHA:3261
Griscelli Syndrome Type 2
Neutropenia, Hemophagocytosis, Splenomegaly, Pancytopenia, Lymphadenopathy ORPHA:79477
Cinca Syndrome
Leukocytosis, Eosinophilia, Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:607115
Fish-Eye Disease
Lymphadenopathy, Splenomegaly ORPHA:79292
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration, Optic atrophy, Abnormality of retinal pigmentation ORPHA:44
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Decreased circulating IgA level, Reduced natural killer cell count, Increased circulating IgM lev... OMIM:242860
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Ne... OMIM:304790
Pfapa Syndrome
Lymphadenopathy, Splenomegaly ORPHA:42642
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Retinal dystrophy, Chorioretinal coloboma ORPHA:231736
Primary Myelofibrosis
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Thrombocytopenia, T... ORPHA:824
Vici Syndrome
Gray matter heterotopia, Abnormality of retinal pigmentation, Abnormal macular morphology, Optic ... ORPHA:1493
Congenital Muscular Dystrophy With Cerebellar Involvement
Hydrocephalus, Gray matter heterotopia, Optic nerve hypoplasia, Retinal detachment, Polymicrogyri... ORPHA:370959
Congenital Muscular Dystrophy Without Intellectual Disability
Pachygyria, Gray matter heterotopia ORPHA:370980
Gamma-Heavy Chain Disease
Splenomegaly, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Thrombocytopenia, Auto... ORPHA:100026
Congenital Toxoplasmosis
Anemia, Lymphadenopathy, Thrombocytopenia ORPHA:858
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve aplasia, Morning glory anomaly, Optic nerve ... OMIM:165550
Heme Oxygenase 1 Deficiency
Coombs-positive hemolytic anemia, Cervical lymphadenopathy, Hemolytic anemia, Thrombocytosis, Lym... OMIM:614034
Thymic Aplasia
Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of naive T cells,... ORPHA:83471
Immunodeficiency 10
Autoimmune hemolytic anemia, Lymphadenopathy, Thrombocytopenia OMIM:612783
Roifman Syndrome
Eosinophilia, Hepatosplenomegaly, Lymphadenopathy, Decreased circulating antibody level ORPHA:353298
Immunodeficiency 17
T lymphocytopenia, Decreased proportion of CD8-positive T cells, Abnormal B cell morphology, Chro... OMIM:615607
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Lymphadenopathy, Decreased circulating antibody level, Microcytic anemia OMIM:619750
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Increased circulating antibody level, Lymphadenopathy ORPHA:69126
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:391
Cold Agglutinin Disease
Hemolytic anemia, Lymphadenopathy, Splenomegaly ORPHA:56425
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level, Lymphopenia, Splenomegaly, Thrombocytopenia, Anemia, Lympha... OMIM:617591
Peroxisome Biogenesis Disorder 13A (Zellweger)
Abnormality of neuronal migration OMIM:614887
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormality of neuronal migration, Pachygyria OMIM:608840
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Lymphopen... OMIM:600903
Dysplastic Cortical Hyperostosis
Abnormality of neuronal migration ORPHA:2204
Immunodeficiency 55
Neutropenia, Lymphadenopathy, Lymphopenia, Absent natural killer cells OMIM:617827
Chronic Graft Versus Host Disease
Skin ulcer, Skin vesicle, Erythema, Intermittent generalized erythematous papular rash ORPHA:99921
Sting-Associated Vasculopathy, Infantile-Onset
Increased circulating IgA level, Lymphopenia, Leukopenia, Follicular hyperplasia, Increased circu... OMIM:615934
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... ORPHA:98849
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of neuronal migration, Optic atrophy, Abnormality of retinal pigmentation ORPHA:2518
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Leukocytosis, Hypochromic anemia, Cervical lymphadenopathy, Acute monocytic leukem... ORPHA:514
Ataxia-Telangiectasia
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Hypoplasia of the ... OMIM:208900
Rhabdoid Tumor
Anemia, Lymphadenopathy, Thrombocytopenia ORPHA:69077
Omenn Syndrome
Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte morphology, Anemia, Lymphadenopathy ORPHA:39041
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Splenomegaly, Thrombocytopenia, Reduced natural killer cell activity, Decreased... ORPHA:540
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Gray matter heterotopia, Agenesis of corpus callosum OMIM:164180
Macrophage Activation Syndrome
Neutropenia, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Abnormal natural killer cell count... ORPHA:158061
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Monocytosis, Thrombocytopenia, Lymphadenopathy OMIM:619644
Felty Syndrome
Splenomegaly, Abnormal lymphocyte morphology, Thrombocytopenia, Neutropenia, Bone marrow hypocell... ORPHA:47612
Hyper-Igd Syndrome
Increased circulating IgA level, Neutrophilia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, In... OMIM:260920
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Lymphopen... OMIM:301000
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia OMIM:300049
Thanatophoric Dysplasia Type 2
Abnormality of neuronal migration, Hydrocephalus, Holoprosencephaly, Encephalocele ORPHA:93274
Joubert Syndrome 30
Gray matter heterotopia, Retinal dystrophy OMIM:617622
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Spina bifida, Agenesis of corpus callos... OMIM:207950
Coloboma, Ocular, Autosomal Dominant
Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc coloboma, Optic nerve ... OMIM:120200
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Splenomegaly, Microcytic anemia, Bone-marrow foam cells, Lymphadenopathy OMIM:257200
Edinburgh Malformation Syndrome
Abnormality of neuronal migration, Hydrocephalus ORPHA:1895
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Impaired T cell function, Po... OMIM:258900
Selective Igm Deficiency
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of transitional B cell... ORPHA:331235
Periventricular Nodular Heterotopia
Periventricular heterotopia, Thin skin ORPHA:98892
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Leukopenia, Thrombocytopenia, Reduced natural... OMIM:603553
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Splenomegaly, Lymphadenitis, Liver abscess, Granulomatosis, Rectal abscess, Lymphadenopathy, Impa... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Splenomegaly, Lymphadenitis, Liver abscess, Granulomatosis, Rectal abscess, Lymphadenopathy, Impa... OMIM:233710
Chediak-Higashi Syndrome
Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopenia, Impaired neutrophil bacteric... OMIM:214500
Common Variable Immunodeficiency
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Decreased circulating a... ORPHA:1572
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Pleural Mesothelioma
Lymphadenopathy ORPHA:50251
Roifman Syndrome
Eosinophilia, Lymphadenopathy, Splenomegaly OMIM:616651
Cinca Syndrome
Leukocytosis, Splenomegaly, Abnormal granulocyte morphology, Abnormality of neutrophils, Anemia, ... ORPHA:1451
Acromelic Frontonasal Dysostosis
Periventricular nodular heterotopia, Encephalocele, Gray matter heterotopia, Agenesis of corpus c... OMIM:603671
Diffuse Cutaneous Mastocytosis
Myeloproliferative disorder, Lymphadenopathy, Abnormality of the spleen, Lymphocytosis ORPHA:79456
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Splenomegaly, Lymphadenitis, Liver abscess, Granulomatosis, Rectal abscess, Lymphadenopathy, Impa... OMIM:233690
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Impaired T cell function, Pa... OMIM:614576
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Retinal dystrophy, Abnormality of neuronal migration, Encephalocele, Chorioretinal... ORPHA:2318
Schimke Immuno-Osseous Dysplasia
Lymphopenia, Abnormal lymphocyte physiology, Impaired T cell function, Abnormal proportion of nai... ORPHA:1830
3C Syndrome
Hydrocephalus, Optic atrophy, Death in infancy, Abnormality of neuronal migration, Chorioretinal ... ORPHA:7
Bare Lymphocyte Syndrome, Type Ii
Agammaglobulinemia, Cutaneous anergy, Neutropenia, Panhypogammaglobulinemia OMIM:209920
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Abnormal cortical gyration, Polymicrogyria, Lissencephaly, Abnormality of neuronal... ORPHA:2211
Acute Promyelocytic Leukemia
Neutropenia, Leukocytosis, Leukopenia, Thrombocytopenia, Pancytopenia, Anemia, Lymphadenopathy ORPHA:520
Desmoplastic Small Round Cell Tumor
Anemia, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:83469
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Optic atrophy, Periventricular heterotopia, Hydrocephalus, Agenesis of corpus callosum OMIM:618476
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration ORPHA:2772
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly OMIM:619183
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Splenomegaly ORPHA:85414
Adult-Onset Still Disease
Neutrophilia, Leukocytosis, Splenomegaly, Generalized lymphadenopathy, Bone marrow hypocellularity ORPHA:829
Desmosterolosis
Hydrocephalus, Agenesis of corpus callosum, Abnormal cortical gyration, Polymicrogyria, Lissencep... ORPHA:35107
Hereditary Orotic Aciduria
Anemia, Impaired T cell function, Splenomegaly ORPHA:30
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Mevalonic Aciduria
Fluctuating splenomegaly, Leukocytosis, Normocytic hypoplastic anemia, Increased circulating IgD ... OMIM:610377
Vici Syndrome
Decreased circulating IgG level, Decreased T cell activation, Decreased proportion of CD4-positiv... OMIM:242840
Tetrasomy 18P
Abnormality of neuronal migration ORPHA:3307
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation, Decreased proportion of CD4-positive helper T cells ORPHA:66628
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Lymph... ORPHA:508533
Congenital Disorder Of Deglycosylation 2
Retinal coloboma, Partial agenesis of the corpus callosum, Gray matter heterotopia, Polymicrogyria OMIM:619775
Immunodeficiency 82 With Systemic Inflammation
Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of naive T cells,... OMIM:619381
Castleman Disease
Decreased mean corpuscular volume, Follicular hyperplasia, Mediastinal lymphadenopathy, Thrombocy... ORPHA:160
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia OMIM:619694
Thanatophoric Dysplasia
Hydrocephalus, Gray matter heterotopia ORPHA:2655
Obesity Due To Leptin Receptor Gene Deficiency
Decreased T cell activation, Decreased proportion of CD4-positive helper T cells ORPHA:179494
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia OMIM:617008
Lig4 Syndrome
Lymphadenopathy, Acute leukemia, Leukocytosis, Pancytopenia ORPHA:99812
Legionnaires Disease
Bone marrow hypocellularity, Lymphadenopathy, Lymphopenia, Splenomegaly ORPHA:549
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Thrombocytopenia, Lymphadenopathy, Splenomegaly ORPHA:169090
Persistent Hyperplastic Primary Vitreous
Remnants of the hyaloid vascular system, Hyaloid vascular remnant and retrolental mass, Glial rem... ORPHA:91495
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Lymphopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Leukopenia, Thrombocytosis, Decrease... OMIM:615688
Alkuraya-Kucinskas Syndrome
Hydrocephalus, Gray matter heterotopia, Webbed neck, Lissencephaly OMIM:617822
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Increased circulating IgG level, Decreased circula... ORPHA:29073
Thanatophoric Dysplasia, Type I
Hydrocephalus, Gray matter heterotopia, Neonatal death OMIM:187600
Joubert Syndrome
Abnormality of neuronal migration, Hydrocephalus, Polymicrogyria, Encephalocele ORPHA:475
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Defective T cell proliferation, Leukocytosis, Hypochromic anemia, Increased circulating IgG level... OMIM:618213
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Splenomegaly, Leukopenia, Thrombocytopenia, Anemia, Lymphadenopathy OMIM:267700
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy, Increased circulating IgA level ORPHA:343
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphopenia, Autoimmune thrombocytopenia, T lymphocytopenia, Neutropenia, Lymphadenopathy OMIM:607944
Kikuchi-Fujimoto Disease
Lymphocytosis, Abnormality of the lymph nodes, Cervical lymphadenopathy, Splenomegaly, Leukopenia... ORPHA:50918
Pediatric Systemic Lupus Erythematosus
Lymphopenia, Leukopenia, Thrombocytopenia, Microangiopathic hemolytic anemia, Lymphadenopathy ORPHA:93552
Granulomatous Disease, Chronic, X-Linked
Splenomegaly, Lymphadenitis, Liver abscess, Granulomatosis, Rectal abscess, Granuloma, Lymphadeno... OMIM:306400
Mixed Connective Tissue Disease
Splenomegaly, Leukopenia, Mediastinal lymphadenopathy, Hemolytic anemia, Lymphadenopathy ORPHA:809
Nephroblastoma
Lymphadenopathy ORPHA:654
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration OMIM:300957
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Neutropenia, Vacuolated lymphocytes, Abnormal natural killer cell ... ORPHA:167
Igg4-Related Submandibular Gland Disease
Increased circulating antibody level, Eosinophilia, Increased circulating IgG level, Increased ci... ORPHA:449432
Cutaneous Neuroendocrine Carcinoma
Chronic noninfectious lymphadenopathy, Lymphoid leukemia ORPHA:79140
American Trypanosomiasis
Lymphadenopathy, Splenomegaly ORPHA:3386
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Coffin-Lowry Syndrome
Abnormality of neuronal migration, Optic atrophy, Abnormality of retinal pigmentation, Death in e... ORPHA:192
Scrub Typhus
Lymphadenopathy, Splenomegaly ORPHA:83317
Neu-Laxova Syndrome
Abnormal cortical gyration, Polymicrogyria, Lissencephaly, Abnormality of neuronal migration, Pac... ORPHA:2671
Waldenström Macroglobulinemia
Splenomegaly, Normocytic anemia, Abnormality of neutrophils, Monoclonal immunoglobulin M proteine... ORPHA:33226
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Agenesis of corpus ... ORPHA:157
Hereditary Amyloidosis With Primary Renal Involvement
Anemia, Hepatosplenomegaly, Lymphadenopathy, Abnormality of the lymph nodes ORPHA:85450
Galloway-Mowat Syndrome
Abnormality of neuronal migration, Pachygyria, Aqueductal stenosis ORPHA:2065
Nijmegen Breakage Syndrome
B lymphocytopenia, T lymphocytopenia, Dysgammaglobulinemia, Autoimmune hemolytic anemia, Thromboc... OMIM:251260
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function, Splenomegaly OMIM:201100
Joubert Syndrome With Hepatic Defect
Hydrocephalus, Optic disc coloboma, Abnormality of neuronal migration, Occipital encephalocele, C... ORPHA:1454
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Leukocytosis, Splenomegaly, Lymphadenitis, Anemia, Lymphadenopathy OMIM:615895
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Abnormality of neuronal migration, Agenesis of corpus callosum, Polymicrogyria, Death in infancy OMIM:608836
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphadenopathy, Lymphocytosis ORPHA:139402
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Autoimmune thrombocytopenia, ... ORPHA:37042
Orofaciodigital Syndrome Xvi
Retinopathy, Gray matter heterotopia OMIM:617563
Pierson Syndrome
Remnants of the hyaloid vascular system, Death in childhood, Retinal detachment, Retinal hemorrha... OMIM:609049
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Gray matter heterotopia OMIM:219730
Poems Syndrome
Polycythemia, Increased circulating antibody level, Lymphadenopathy, Thrombocytosis ORPHA:2905
Thymic Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Mediastinal lymphadenopathy, Neoplasm of the thymus ORPHA:97289
Klatskin Tumor
Lymphadenopathy ORPHA:99978
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Aicardi Syndrome
Gray matter heterotopia, Retinal detachment, Chorioretinal lacunae, Polymicrogyria, Optic disc co... OMIM:304050
Q Fever
Increased circulating antibody level, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Granulo... ORPHA:781
Medullary Thyroid Carcinoma
Lymphadenopathy ORPHA:1332
Radio-Tartaglia Syndrome
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619312
Hypocomplementemic Urticarial Vasculitis
Lymphadenopathy, Splenomegaly ORPHA:36412
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hydrocephalus, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Agenesis of corpus ... ORPHA:228308
Pagod Syndrome
Optic atrophy, Death in infancy, Meningocele, Abnormality of neuronal migration, Encephalocele, S... ORPHA:991
Van Maldergem Syndrome 1
Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia, Simpl... OMIM:601390
16P13.11 Microdeletion Syndrome
Abnormality of neuronal migration, Agenesis of corpus callosum, Holoprosencephaly ORPHA:261236
Progeria-Short Stature-Pigmented Nevi Syndrome
Microcytic anemia, T lymphocytopenia ORPHA:2959
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Peroxisome Biogenesis Disorder 1A (Zellweger)
Gray matter heterotopia, Death in childhood, Pigmentary retinopathy, Polymicrogyria, Optic disc p... OMIM:214100
Sarcoidosis, Susceptibility To, 1
Increased circulating antibody level, Splenomegaly, Mediastinal lymphadenopathy, Generalized lymp... OMIM:181000
Acute Interstitial Pneumonia
Reduced hematocrit, Lymphadenopathy ORPHA:79126
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration ORPHA:2063
Holoprosencephaly 14
Periventricular heterotopia, Gray matter heterotopia, Hydrocephalus, Alobar holoprosencephaly, Aq... OMIM:619895
Neurofibromatosis Type 2
Remnants of the hyaloid vascular system, Hydrocephalus, Myelopathy, Epiretinal membrane, Retinal ... ORPHA:637
Thanatophoric Dysplasia Type 1
Hydrocephalus, Gray matter heterotopia ORPHA:1860
Brucellosis
Leukocytosis, Splenomegaly, Leukopenia, Increased circulating IgG level, Thrombocytopenia, Thromb... ORPHA:1304
Malt Lymphoma
Anemia, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:52417
Hennekam Syndrome
Lymphangioma, Lymphopenia, Splenomegaly, Pulmonary lymphangiectasia, Decreased circulating antibo... ORPHA:2136
Holoprosencephaly
Hydrocephalus, Holoprosencephaly, Retinopathy, Optic atrophy, Spinal dysraphism, Abnormality of n... ORPHA:2162
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal nonattachment, Remnants of the hyaloid vascular system, Retinal fold OMIM:221900
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Frontal polymicrogyria, Pachygyria, Gray matter heterotopia, Neonatal death OMIM:620024
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, Retinal detachment ORPHA:2714
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Polymicrogyria OMIM:617397
Bohring-Opitz Syndrome
Gray matter heterotopia, Agenesis of corpus callosum, Abnormality of the optic nerve OMIM:605039
Pancreatoblastoma
Abnormality of the lymph nodes ORPHA:677
Immunodeficiency 58
Decreased specific antibody response to vaccination, Decreased T cell activation, Decreased circu... OMIM:618131
Lymphatic Filariasis
Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Lymphangiectasis, Lymphade... ORPHA:2035
Carney Triad
Anemia, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:139411
Farber Disease
Anemia, Hepatosplenomegaly, Lymphadenopathy, Thrombocytopenia ORPHA:333
Graft Versus Host Disease
Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis ORPHA:39812
Primary Sjögren Syndrome
Increased circulating antibody level, Lymphopenia, Leukopenia, Normocytic anemia, Thrombocytopeni... ORPHA:289390
Coccidioidomycosis
Eosinophilia, Abscess, Abnormality of the spleen, Mediastinal lymphadenopathy, Increased circulat... ORPHA:228123
H Syndrome
Histiocytosis, Hepatosplenomegaly, Lymphadenopathy, Microcytic anemia ORPHA:168569
Tangier Disease
Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Thrombocytopenia, Anemia, Orange disco... ORPHA:31150
Van Maldergem Syndrome 2
Periventricular nodular heterotopia, Gray matter heterotopia, Subcortical band heterotopia OMIM:615546
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia ORPHA:531151
Histiocytosis-Lymphadenopathy Plus Syndrome
Histiocytosis, Splenomegaly, Cervical lymphadenopathy, Hepatosplenomegaly, Lymphadenopathy OMIM:602782
Familial Pancreatic Carcinoma
Hepatosplenomegaly, Lymphadenopathy, Peritoneal abscess ORPHA:1333
6Q Terminal Deletion Syndrome
Periventricular heterotopia, Gray matter heterotopia, Polymicrogyria, Abnormality of neuronal mig... ORPHA:75857
Alg11-Cdg
Gray matter heterotopia ORPHA:280071
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia OMIM:618797
Pulmonary Capillary Hemangiomatosis
Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:199241
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormality of neuronal migration ORPHA:163681
Miller-Dieker Lissencephaly Syndrome
Agyria, Pachygyria, Gray matter heterotopia, Lissencephaly OMIM:247200
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgA level, Thrombocytopenia, Increased circulating IgG4 level, Increased ci... ORPHA:79078
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormality of neuronal migration, Optic disc pallor, Retinal detachment ORPHA:464311
Arima Syndrome
Occipital meningocele, Gray matter heterotopia, Retinal dystrophy, Chorioretinal coloboma OMIM:243910
Cerebrofacioarticular Syndrome
Dysplastic corpus callosum, Gray matter heterotopia, Agenesis of corpus callosum ORPHA:314679
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia OMIM:608624
Immunodeficiency 87 And Autoimmunity
Lymphopenia, Cervical lymphadenopathy, Thrombocytopenia, Hemolytic anemia, Abnormal lymphocyte pr... OMIM:619573
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Splenomegaly, Accessory spleen, Anemia, Polysplenia, Lymphadenopathy OMIM:619418
Igg4-Related Kidney Disease
Increased circulating IgG1 level, Lymphadenitis, Eosinophilia, Increased circulating IgG level, I... ORPHA:449395
Orofaciodigital Syndrome Xiv
Periventricular heterotopia, Holoprosencephaly, Retinal coloboma, Polymicrogyria, Optic disc colo... OMIM:615948
Multiple Acyl-Coa Dehydrogenase Deficiency
Gray matter heterotopia ORPHA:26791
Marburg Hemorrhagic Fever
Increased circulating antibody level, Lymphopenia, Leukopenia, Abnormal lymphocyte morphology, Th... ORPHA:99826
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Alobar holoprosencephaly, Holoprosencephaly, Semilobar h... OMIM:157170
Crimean-Congo Hemorrhagic Fever
Neutrophilia, Leukocytosis, Splenomegaly, Leukopenia, Increased circulating IgG level, Thrombocyt... ORPHA:99827
Hydrolethalus Syndrome 1
Gray matter heterotopia, Anencephaly, Severe hydrocephalus, Arrhinencephaly, Abnormal cortical gy... OMIM:236680
Opitz-Kaveggia Syndrome
Partial agenesis of the corpus callosum, Hydrocephalus, Gray matter heterotopia OMIM:305450
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Gray matter heterotopia, Holoprosencephaly, Polymicrogyria, Colpoceph... OMIM:618820
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Anemia, Hepatosplenomegaly, Lymphadenopathy ORPHA:85408
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Lymphadenopathy, Leukocytosis, Splenomegaly ORPHA:32960
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating antibody level, Increased circulating IgA level, Splenomegaly, Increased ci... OMIM:256040
Orofaciodigital Syndrome I
Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Abnormal cortical gyration, Agenesis of... OMIM:311200
Sarcoidosis
Abnormality of the lymph nodes, Eosinophilia, Leukopenia, Thrombocytopenia, Hemolytic anemia, Ane... ORPHA:797
Igg4-Related Ophthalmic Disease
Increased circulating IgG4 level, Eosinophilia, Increased circulating IgE level, Lymphadenopathy ORPHA:449563
Orofaciodigital Syndrome Type 6
Abnormality of neuronal migration ORPHA:2754
Periventricular Nodular Heterotopia 9
Periventricular nodular heterotopia, Gray matter heterotopia, Polymicrogyria OMIM:618918
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Optic nerve hypoplasia, Gray matter heterotopia, Agenesis of corpus callosum, Abnormality of the ... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Optic nerve hypoplasia, Gray matter heterotopia, Agenesis of corpus callosum, Abnormality of the ... ORPHA:352665
Koolen-De Vries Syndrome
Gray matter heterotopia OMIM:610443
Bilateral Perisylvian Polymicrogyria
Abnormality of neuronal migration, Bilateral perisylvian polymicrogyria, Perisylvian predominant ... ORPHA:98889
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia, Agenesis of corpus callosum OMIM:276300
Ileal Neuroendocrine Tumor
Lymphadenopathy, Iron deficiency anemia ORPHA:100078
Jejunal Neuroendocrine Tumor
Lymphadenopathy, Iron deficiency anemia ORPHA:100077
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of neuronal migration, Holoprosencephaly ORPHA:3186
22Q11.2 Deletion Syndrome
Splenomegaly, Hypoplasia of the thymus, Impaired T cell function, Abnormality of the tonsils, Thr... ORPHA:567
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Pachygyria, Gray matter heterotopia, Stillbirth, Agenesis of corpus callosum OMIM:210710
Duodenal Neuroendocrine Tumor
Lymphadenopathy, Increased hematocrit, Iron deficiency anemia ORPHA:100076
Lymphangioleiomyomatosis
Pulmonary lymphangiomyomatosis, Lymphadenopathy, 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
Familial Mediterranean Fever
Lymphadenopathy, Splenomegaly ORPHA:342
Fontaine Progeroid Syndrome
Periventricular heterotopia, Gray matter heterotopia, Hydrocephalus, Neonatal death, Death in inf... OMIM:612289
Norrie Disease
Remnants of the hyaloid vascular system, Abnormal retinal vascular morphology, Retinal detachment... ORPHA:649
Autosomal Recessive Malignant Osteopetrosis
Anemia, Lymphadenopathy, Splenomegaly ORPHA:667
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
Microphthalmia, Syndromic 2
Remnants of the hyaloid vascular system, Retinal detachment OMIM:300166
Nijmegen Breakage Syndrome
Abnormality of neuronal migration ORPHA:647
Cushing Syndrome Due To Ectopic Acth Secretion
Lymphopenia, Leukocytosis, Abnormality of the lymph nodes, Neoplasm of the thymus, Decreased eosi... ORPHA:99889
Digeorge Syndrome
Splenomegaly, Hypoplasia of the thymus, Impaired T cell function, Abnormality of the thymus, Anem... OMIM:188400
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Behçet Disease
Lymphadenopathy, Splenomegaly ORPHA:117
Proteus Syndrome
Gray matter heterotopia, Abnormality of retinal pigmentation, Retinal nonattachment, Retinal hama... ORPHA:744
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function OMIM:176690
Neuroocular Syndrome
Remnants of the hyaloid vascular system, Hypoplasia of the fovea OMIM:619539
Blau Syndrome
Anemia, Lymphadenopathy, Splenomegaly ORPHA:90340
African Trypanosomiasis
Hepatosplenomegaly, Lymphadenopathy, Splenomegaly ORPHA:3385
Leptospirosis
Lymphadenopathy, Thrombocytopenia ORPHA:509
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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