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:
N/A

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 Junctionalis With Pyloric Atresia
Milia, Atrophic scars, Death in infancy, Aplasia cutis congenita OMIM:226730
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
Cutaneous anergy, Decreased helper T cell proportion, Pancytopenia, Hypersplenism, Splenomegaly OMIM:183350
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia, Defective T cell proliferation OMIM:615615
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Lack of T cell function, Hypoplasia of the thymus, Impai... OMIM:267500
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... OMIM:615897
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... OMIM:606843
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Decreased circulating IgG level OMIM:235550
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Skin erosion, Atypical scarring of skin, Atrophic scars, Localized skin lesion, Erythematous papu... ORPHA:79410
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Decreased circulating to... OMIM:618987
Pemphigoid Gestationis
Skin vesicle ORPHA:63275
Pemphigus Foliaceus
Skin vesicle, Skin erosion, Erythema ORPHA:79481
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
Erythema Elevatum Diutinum
Skin vesicle, Skin nodule ORPHA:90000
Familial Benign Chronic Pemphigus
Skin vesicle, Skin erosion, Erythema ORPHA:2841
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... OMIM:247630
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Cortical dysplasia, Agyri... OMIM:615411
Darier Disease
Plantar pits, Acrokeratosis, Macule, Skin vesicle, Hypermelanotic macule ORPHA:218
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Abnormality of neuronal m... OMIM:604317
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Pachygyria, Gray matter heterotopia, Cortical dysplasia, Agyria, Microcephaly, Subcortical band h... OMIM:615412
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia ORPHA:60026
Kimura Disease
Eosinophilia, Increased circulating IgE level, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Immunodeficiency 40
Lymphopenia OMIM:616433
Pruritic Urticarial Papules And Plaques Of Pregnancy
Urticarial plaque, Facial erythema, Erythematous papule, Palmoplantar erythema, Erythematous plaq... ORPHA:64745
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:312500
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618261
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased circulating IgM level, Increased proportion autoreactive unresp... OMIM:618534
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency With Hyper-Igm, Type 5
Increased circulating IgM level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Lissencephaly 1
Pachygyria, Gray matter heterotopia, Abnormal cerebral white matter morphology, Agyria, Secondary... OMIM:607432
Periventricular Nodular Heterotopia 7
Gray matter heterotopia, Hypoplasia of the corpus callosum, Cortical dysplasia, Cleft palate, Per... OMIM:617201
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Wells Syndrome
Skin vesicle ORPHA:901
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia OMIM:200900
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... OMIM:605258
Sub-Cortical Nodular Heterotopia
Hypoplasia of the corpus callosum, Subcortical heterotopia, Abnormality of neuronal migration, Po... ORPHA:101029
Pemphigus Erythematosus
Skin vesicle ORPHA:79480
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... OMIM:619126
Immunodeficiency 72 With Autoinflammation
Increased circulating IgE level, Increased circulating IgG level, Increased B cell count, Increas... OMIM:618982
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD69 upregulation upon TCR activation, Autoimmune thrombocytopenia, Decreased specific ... OMIM:300853
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Defective T cell proliferation, Decreased proportion of CD8-positive T cells, R... OMIM:614493
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, T lymphocytopenia, Increased circulating IgE level, Lymphopenia, Lack of T cell f... ORPHA:277
Lissencephaly, X-Linked, 1
Pachygyria, Gray matter heterotopia, Death in infancy, Agyria, Agenesis of corpus callosum, Lisse... OMIM:300067
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Absent tonsils, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positiv... OMIM:611926
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Lymphadenopathy, Splenomegaly OMIM:608971
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Decreased circulating antibody lev... OMIM:617514
Dermatitis Herpetiformis
Macule, Skin vesicle, Erythema ORPHA:1656
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:619164
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Dermal atrophy, Papule, Skin vesicle, Aplasia/Hypoplasia of the skin ORPHA:257
Pyoderma Gangrenosum
Atrophic scars, Skin vesicle, Papule, Skin ulcer ORPHA:48104
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Erythema migrans, Skin vesicle ORPHA:158681
Lissencephaly 3
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Polymicrogyria, Agyria, M... OMIM:611603
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Decreased circulating IgE, Impaired lymphocyte transformation with phytohemagg... OMIM:300400
Cernunnos-Xlf Deficiency
T lymphocytopenia, Decreased circulating antibody level, Lymphopenia, Thrombocytopenia, B lymphoc... ORPHA:169079
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Periventricular nodular heterotopia, Microcephaly, Optic atrophy OMIM:618572
Lichen Planus Pemphigoides
Skin vesicle ORPHA:254478
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular heterotopia, Hypoplasia of the corpus callosum, Periventricular nodular heterotop... OMIM:608097
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Increased circulating ... OMIM:614470
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:601859
Band Heterotopia
Hydrocephalus, Gray matter heterotopia, Polymicrogyria, Subcortical band heterotopia, Agenesis of... OMIM:600348
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia OMIM:300988
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-po... ORPHA:169154
Chudley-Mccullough Syndrome
Gray matter heterotopia, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Polymicro... OMIM:604213
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphadenopathy, Splenomegaly OMIM:618495
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Type II lissencephaly, Gray matter heterotopia, Abnormal cerebral white matter morphology, Dysgyr... ORPHA:352682
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection, T lymphocytopenia, Cutaneous anergy, Abse... OMIM:600802
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutro... OMIM:619220
Apolipoprotein A-I Deficiency
Anemia, Lymphadenopathy, Splenomegaly ORPHA:425
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:615544
Kerion Celsi
Recurrent cutaneous abscess formation, Lymphadenopathy ORPHA:499
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Splenome... ORPHA:444463
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, T l... OMIM:618986
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased circulating IgG level, Decreased p... OMIM:312863
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis OMIM:247800
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Abnormal corpus callosum morphology, Cortical dysplasia, Micro... OMIM:618709
Mast Cell Sarcoma
Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy, Splenomegaly ORPHA:66661
T-Cell Receptor-Alpha/Beta Deficiency
Hypereosinophilia, Lymphadenopathy OMIM:615387
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Abnormal natural killer cell physiology, Decreased circulating antibody level, ... OMIM:613101
Mu-Heavy Chain Disease
Increased circulating antibody level, Abnormal B cell count, Anemia, Splenomegaly, Lymphadenopathy ORPHA:100024
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Pachygyria, Agyria, Gray matter heterotopia ORPHA:1084
Pyknoachondrogenesis
Stillbirth OMIM:265880
Lissencephaly 5
Porencephalic cyst, Type II lissencephaly, Gray matter heterotopia, Hypoplasia of the corpus call... OMIM:615191
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Decreased circulating antibody ... OMIM:308240
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Candidiasis, Familial, 2
Hypereosinophilia, Increased circulating IgE level, Lymphadenopathy OMIM:212050
Iga Pemphigus
Skin plaque, Skin vesicle, Skin erosion, Annular cutaneous lesion ORPHA:555905
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgM level, Increased circulating IgE level, Decreased proportion of CD8-pos... OMIM:617241
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Absence of lymph node germin... OMIM:608184
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Autoimmune hemolytic anemia, Reduced natur... OMIM:619374
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Griscelli Syndrome, Type 2
Hemophagocytosis, Hepatosplenomegaly, Reduced delayed hypersensitivity OMIM:607624
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Immunodeficiency 25
T lymphocytopenia, Increased circulating IgM level, Increased circulating IgE level, Autoimmune h... OMIM:610163
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Increased proportion autoreactive unrespon... OMIM:615559
Immunodeficiency, Common Variable, 2
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Follicular hy... OMIM:240500
Transcobalamin Deficiency
Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytopenia, Pancytopenia, D... ORPHA:859
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Gray matter heterotopia... ORPHA:300573
Rosaï-Dorfman Disease
Anemia, Dysgammaglobulinemia, Lymphadenopathy ORPHA:158014
Immunodeficiency 68
T lymphocytopenia, Lymphadenitis, Abnormal natural killer cell count, B lymphocytopenia, Abscess OMIM:612260
Hypotrichosis And Recurrent Skin Vesicles
Skin vesicle OMIM:613102
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Immunodeficiency 27A
Thrombocytosis, Increased circulating IgM level, Leukocytosis, Histiocytosis, Increased circulati... OMIM:209950
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Cutaneous abscess, Decreased proportion of C... OMIM:618204
Immunodeficiency 57 With Autoinflammation
Partial absence of specific antibody response to tetanus vaccine, T lymphocytopenia, Decreased ci... OMIM:618108
Immunodeficiency 13
T lymphocytopenia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD... OMIM:615518
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia, Increased circulating antibody level, Lymphadenopathy OMIM:618048
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Increased circulating IgM level, Hemolytic anemia, Decreased c... OMIM:308230
Acalvaria
Spina bifida, Holoprosencephaly, Abnormality of neuronal migration, Cleft palate, Hydrocephalus ORPHA:945
Bilateral Striopallidodentate Calcinosis
Microcephaly, Cerebral calcification, Abnormality of neuronal migration ORPHA:1980
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
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Autosomal Dominant Hyper-Ige Syndrome
Papule, Skin vesicle, Skin ulcer ORPHA:2314
Hennekam-Beemer Syndrome
Subcutaneous nodule, Erythema, Macule, Papule, Skin vesicle ORPHA:2135
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Lymphadenopathy, Splenomegaly OMIM:618852
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphadenitis, Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T cells, Lymphop... ORPHA:331206
Porphyria Variegata
Milia, Localized skin lesion, Skin vesicle, Skin erosion ORPHA:79473
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum, Gray matter heterotopia OMIM:619101
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased circulating antibody level, D... OMIM:613011
Lissencephaly 6 With Microcephaly
Pachygyria, Periventricular heterotopia, Hypoplasia of the corpus callosum, Wide mouth, Thin uppe... OMIM:616212
Hemimegalencephaly
Pachygyria, Gray matter heterotopia, Polymicrogyria, Hyperintensity of cerebral white matter on M... ORPHA:99802
Maternal Hyperthermia-Induced Birth Defects
Microcephaly, Abnormality of neuronal migration, Cleft palate ORPHA:2216
Alpha-Heavy Chain Disease
Anemia, Dysgammaglobulinemia, Lymphadenopathy, Splenomegaly ORPHA:100025
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased circulating antibody level, L... OMIM:616100
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, Absent natural killer cells, Partial IgA deficiency, Lymphopenia, Impaired lym... ORPHA:35078
Walker-Warburg Syndrome
Pachygyria, Chorioretinal dysplasia, Agenesis of corpus callosum, Absent septum pellucidum, Retin... ORPHA:899
Sweet Syndrome
Erythematous papule, Pyoderma gangrenosum, Erythematous plaque, Skin vesicle, Skin nodule ORPHA:3243
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Thrombocytopenia, Anemia, Splenomegaly, Lymphadenopathy OMIM:603552
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the lymph nodes, Decreased proportion of CD4-positive h... ORPHA:543
Autosomal Recessive Primary Microcephaly
Pachygyria, Gray matter heterotopia, Thin upper lip vermilion, Hypoplasia of the frontal lobes, M... ORPHA:2512
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Increased B cell count, Lymphadenopathy, Cervical lym... ORPHA:2442
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Remnants of the hyaloid vascular system, Pachygyria, Type II lissencephaly, Gray matter heterotop... OMIM:614643
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hemolytic anemia, Increased circulating IgE level, Decreased specific anti-pol... OMIM:606367
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymph node hypoplasia, Decreased proportion of CD3-positive T cells, Abnormally l... ORPHA:276
Lymphoproliferative Syndrome 2
Hemophagocytosis, Decreased circulating antibody level, Pancytopenia, Decreased lymphocyte prolif... OMIM:615122
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Lymphad... ORPHA:911
Symmetrical Thalamic Calcifications
Microcephaly, Cerebral calcification, Abnormality of neuronal migration ORPHA:1314
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Immunodeficiency 70
Decreased circulating antibody level, Decreased proportion of CD4-positive helper T cells, Decrea... OMIM:618969
3-Hydroxyisobutyric Aciduria
Microcephaly, Abnormality of neuronal migration, Congenital intracerebral calcification OMIM:236795
Poretti-Boltshauser Syndrome
Retinal atrophy, Abnormal periventricular white matter morphology, Gray matter heterotopia, Retin... OMIM:615960
Schnitzler Syndrome
Increased circulating IgM level, Leukocytosis, Anemia, Splenomegaly, Lymphadenopathy ORPHA:37748
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Splenomegaly, Abnormal mast cell morphology, Mastocytos... ORPHA:98848
Leishmaniasis
Abnormal macrophage morphology, Increased circulating antibody level, Pancytopenia, Thrombocytope... ORPHA:507
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Lymphopenia, Abnormal T cell morphology, Hepatosplenomegaly, Reduced delay... OMIM:242700
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormality of neuronal migration, Abnormality of the optic ... ORPHA:65
Immunodeficiency By Defective Expression Of Mhc Class Ii
T lymphocytopenia, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, Autoimmune hemolytic anem... ORPHA:572
Immunodeficiency 55
Neutropenia, Lymphadenopathy OMIM:617827
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Agenesis of corpus callosum, Type II lissencephaly, Gray matter heterotopia, Anencephaly, Retinal... OMIM:615287
Tularemia
Abnormal nasopharyngeal adenoid morphology, Cutaneous abscess, Leukocytosis, Increased circulatin... ORPHA:3392
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Anemia, Splenomegaly, Hepatosplenomegaly, Abnormality... OMIM:612840
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... OMIM:619375
Follicular Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly ORPHA:545
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:86893
Lissencephaly Syndrome, Norman-Roberts Type
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Abnormal retinal morphology, Abno... ORPHA:89844
Omenn Syndrome
Severe B lymphocytopenia, Hypoplasia of the thymus, Thrombocytopenia, Eosinophilia, B lymphocytop... OMIM:603554
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume, Lymphadenopathy OMIM:617718
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Gray matter heterotopia, Macular hypoplasia, Simplified gyral patter... OMIM:615219
Dyskeratosis Congenita
Macule, Aplasia/Hypoplasia of the skin, Hypopigmented skin patches, Skin vesicle, Hypermelanotic ... ORPHA:1775
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Hemolytic anemia, Lymphadenitis, Lymphopenia, Impaired oxidative burst, Gr... OMIM:618935
Brain Small Vessel Disease 2
Polymicrogyria, Porencephalic cyst, Subcortical heterotopia, Schizencephaly OMIM:614483
Aregenerative Anemia
Erythroid hypoplasia, Decreased proportion of CD4-positive helper T cells, Neutropenia, Reticuloc... ORPHA:101096
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia, Increased circulating IgE level ORPHA:217390
Boutonneuse Fever
Increased circulating IgM level, Thrombocytopenia, Increased circulating IgG level, Leukopenia, L... ORPHA:83313
Subependymal Nodular Heterotopia
Gray matter heterotopia, Abnormality of neuronal migration, Meningocele, Polymicrogyria, Focal co... ORPHA:101030
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia OMIM:300049
Mental Retardation, Autosomal Dominant 13
Hypoplasia of the corpus callosum, Microcephaly, Pachygyria, Abnormality of neuronal migration OMIM:614563
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Optic atrophy, Abnormal palate morphology, Abnormality of ne... ORPHA:44
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgM level, Leukocytosis, Increased proportion of CD4-positive T cells, Incr... OMIM:617099
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Macroglossia, Pachygyria, Abnormal periventricular white matter morphology, Abnormality of neuron... OMIM:608840
Tetrasomy 18P
Long philtrum, Thin vermilion border, Narrow mouth, Abnormality of neuronal migration, Microcephaly ORPHA:3307
Purine Nucleoside Phosphorylase Deficiency
Pure red cell aplasia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymph node hypop... OMIM:613179
Congenital Muscular Dystrophy Without Intellectual Disability
Microcephaly, Abnormal cerebral white matter morphology, Pachygyria, Gray matter heterotopia ORPHA:370980
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Anemia, Neutrophilia, Abnormality of the lymphatic system, Brain abscess, Abnormal... ORPHA:54251
Hypomelanosis Of Ito
Gray matter heterotopia, Irregularly spaced teeth, Cerebral atrophy, Microcephaly, Thick lower li... OMIM:300337
Vici Syndrome
Abnormality of retinal pigmentation, Abnormal macular morphology, Gray matter heterotopia, Death ... ORPHA:1493
Pgm3-Cdg
T lymphocytopenia, Abnormal CD4:CD8 ratio, Cutaneous abscess, Hemolytic anemia, Increased circula... ORPHA:443811
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus, Panhypogammaglobulinemia OMIM:602450
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Thrombocytopenia, Abnormal neutrophil count, Splenomeg... ORPHA:3226
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes ORPHA:97290
Edinburgh Malformation Syndrome
Thin vermilion border, Narrow mouth, Downturned corners of mouth, Abnormality of neuronal migrati... ORPHA:1895
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Macroglossia, Agenesis of corpus callosum, Type II lissenceph... ORPHA:370959
Granulomatous Slack Skin
Abnormality of the lymph nodes ORPHA:33111
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes ORPHA:319487
Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:98293
Neurocutaneous Melanocytosis
Chorioretinal coloboma, Abnormality of retinal pigmentation, Death in infancy, Abnormality of neu... ORPHA:2481
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenopathy OMIM:615895
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Lcat Deficiency
Hemolytic anemia, Lymphadenopathy, Splenomegaly ORPHA:650
Chikungunya
Macule, Petechiae, Skin vesicle, Erythema ORPHA:324625
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Lymphadenopathy, Splenomegaly ORPHA:2584
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Lymphadenopathy, Splenomegaly OMIM:611762
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of retinal pigmentation, Abnormality of neuronal migration, Cerebral cortical atrophy... ORPHA:2518
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Autoimmune he... OMIM:614700
Griscelli Syndrome
Abnormality of neutrophils, Decreased circulating antibody level, Thrombocytopenia, Leukopenia, S... ORPHA:381
Leukocyte Adhesion Deficiency Type Ii
Skin vesicle ORPHA:99843
Coffin-Lowry Syndrome
Delayed eruption of teeth, Abnormality of retinal pigmentation, Narrow palate, Aplasia/Hypoplasia... ORPHA:192
Cyclic Neutropenia
Recurrent tonsillitis, Decreased eosinophil count, Tooth abscess, Lymphopenia, Thrombocytopenia, ... ORPHA:2686
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Decreased proportion of memory B cells, Panhypogammaglobulinemia, Abnormal nat... ORPHA:79124
Ataxia-Telangiectasia
Defective B cell differentiation, T lymphocytopenia, Decreased proportion of CD4-positive helper ... OMIM:208900
Acromelic Frontonasal Dysostosis
Gray matter heterotopia, Hypoplasia of the corpus callosum, Hypopituitarism, U-Shaped upper lip v... OMIM:603671
Sézary Syndrome
Abnormal lymphocyte morphology, Abnormal immunoglobulin level, Lymphadenopathy, Splenomegaly ORPHA:3162
Cinca Syndrome
Leukocytosis, Eosinophilia, Anemia, Hepatosplenomegaly, Lymphadenopathy OMIM:607115
Immunodeficiency 54
Reduced natural killer cell count, Lymphadenopathy, Splenomegaly OMIM:609981
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Decreased specific anti-polysaccharid... ORPHA:3261
Griscelli Syndrome Type 2
Hemophagocytosis, Neutropenia, Pancytopenia, Splenomegaly, Lymphadenopathy ORPHA:79477
Dysplastic Cortical Hyperostosis
Microcephaly, Abnormality of neuronal migration ORPHA:2204
Oculocerebrocutaneous Syndrome
Hypoplasia of the corpus callosum, Gray matter heterotopia, Agenesis of corpus callosum, Cleft pa... OMIM:164180
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Leukocytosis, Neutropenia, Pancytopenia, Thrombocytopen... ORPHA:98850
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Increased circulating IgE level, Autoimmune thrombocytopenia, N... OMIM:304790
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Retinal dystrophy ORPHA:231736
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Increased circulating IgM level, Reduced natural killer cell count, Decreased ... OMIM:242860
Pfapa Syndrome
Lymphadenopathy, Splenomegaly ORPHA:42642
Fish-Eye Disease
Lymphadenopathy, Splenomegaly ORPHA:79292
Primary Myelofibrosis
Poikilocytosis, Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Pancytopenia, Thrombo... ORPHA:824
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
Oculopalatocerebral Syndrome
Microcephaly, Remnants of the hyaloid vascular system, Cleft palate OMIM:257910
Optic Nerve Hypoplasia, Bilateral
Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Optic ner... OMIM:165550
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy OMIM:612783
Roifman Syndrome
Decreased circulating antibody level, Hepatosplenomegaly, Lymphadenopathy, Eosinophilia ORPHA:353298
Li-Ghorbani-Weisz-Hubshman Syndrome
Hypoplasia of the corpus callosum, Thick vermilion border, Downturned corners of mouth, Periventr... OMIM:618974
Thymoma
Hemolytic anemia, Decreased circulating antibody level, Abnormal lymphocyte morphology, Neoplasm ... ORPHA:99867
Neu-Laxova Syndrome
Spina bifida, Abnormality of the mouth, Pachygyria, Abnormality of the philtrum, Absent septum pe... ORPHA:2671
Congenital Toxoplasmosis
Thrombocytopenia, Anemia, Lymphadenopathy ORPHA:858
Desmosterolosis
Pachygyria, Agenesis of corpus callosum, Narrow mouth, Absent septum pellucidum, Abnormality of n... ORPHA:35107
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Increased circulating antibody level, Lymphadenopathy ORPHA:69126
Gamma-Heavy Chain Disease
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morphology, Thrombo... ORPHA:100026
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Decreased mean platelet volume, Hemolytic anemia, Increased circulating I... OMIM:600903
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function, Splenomegaly OMIM:201100
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision circle level, Imp... OMIM:608203
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, Thrombocytopenia, Anemia, Splenomegaly, Lympha... OMIM:617591
3C Syndrome
Chorioretinal coloboma, Death in infancy, Abnormality of neuronal migration, Oral cleft, Cleft pa... ORPHA:7
Peroxisome Biogenesis Disorder 13A (Zellweger)
Abnormality of neuronal migration OMIM:614887
16P13.11 Microdeletion Syndrome
Holoprosencephaly, Wide mouth, Smooth philtrum, Abnormality of neuronal migration, Thin upper lip... ORPHA:261236
Lissencephaly Due To Lis1 Mutation
Cavum septum pellucidum, Posterior predominant thick cortex pachygyria, Pachygyria, Thick cerebra... ORPHA:95232
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Narrow palate, Abnormal palate morphology, Tooth agenesis, Abnormality of neuronal migration, Cro... ORPHA:2063
Chronic Graft Versus Host Disease
Intermittent generalized erythematous papular rash, Skin vesicle, Skin ulcer, Erythema ORPHA:99921
Rhabdoid Tumor
Thrombocytopenia, Anemia, Lymphadenopathy ORPHA:69077
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Increased circulating IgA level, Lymphopenia, Paratracheal lymphadenopathy, Folli... OMIM:615934
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Abnormal periventricular white matter morphology, Hydrocephalus, Periventricular heterotopia, Abn... OMIM:618476
Pyruvate Dehydrogenase E1-Beta Deficiency
Pachygyria, Agenesis of corpus callosum, Periventricular heterotopia, Hypoplasia of the corpus ca... ORPHA:255138
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Thrombocytopenia, ... ORPHA:98849
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Anemia, Cervical lymph... ORPHA:514
Thanatophoric Dysplasia, Type I
Neonatal death, Hydrocephalus, Gray matter heterotopia OMIM:187600
Hyper-Igd Syndrome
Lymphadenitis, Leukocytosis, Increased circulating IgA level, Splenomegaly, Neutrophilia, Hepatos... OMIM:260920
Cach Syndrome
T2 hypointense thalamus, Cerebral atrophy, Optic neuritis, Dysgyria, Microcephaly, Optic atrophy,... ORPHA:135
Wiskott-Aldrich Syndrome
Iron deficiency anemia, Decreased mean platelet volume, Increased circulating IgE level, Decrease... OMIM:301000
Joubert Syndrome 30
Gray matter heterotopia, Retinal dystrophy OMIM:617622
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Microcephaly, Abnormality of neuronal migration ORPHA:2772
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, Aplasia/Hypoplasia of the corpus callosum, Frontal corti... ORPHA:2714
Cerebral Palsy, Spastic Quadriplegic, 3
Microcephaly, Gray matter heterotopia OMIM:617008
Omenn Syndrome
Leukocytosis, Abnormal lymphocyte morphology, Lymphadenopathy, Anemia, Splenomegaly, Eosinophilia ORPHA:39041
Felty Syndrome
Abnormal lymphocyte morphology, Neutropenia, Thrombocytopenia, Anemia, Splenomegaly, Bone marrow ... ORPHA:47612
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Decreased circulating antibody level, Neutropenia, Thrombocytopenia, Anemia, Sp... ORPHA:540
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Long philtrum, Pachygyria, Exencephaly, Abnormality of neuronal migration, Polymicrogyria, Abnorm... ORPHA:2211
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Orofaciodigital Syndrome I
Enamel hypoplasia, Hypothalamic hamartoma, Carious teeth, Porencephalic cyst, Agenesis of corpus ... OMIM:311200
Radio-Tartaglia Syndrome
Long philtrum, Short philtrum, Drooling, Dental crowding, Gray matter heterotopia, High palate, W... OMIM:619312
Thanatophoric Dysplasia Type 2
Holoprosencephaly, Hydrocephalus, Abnormality of neuronal migration ORPHA:93274
Coloboma, Ocular, Autosomal Dominant
Morning glory anomaly, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Optic ner... OMIM:120200
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Impaired neutrophil bactericidal activity, Neutropenia... OMIM:214500
Common Variable Immunodeficiency
Hemolytic anemia, Autoimmune thrombocytopenia, Decreased circulating antibody level, Lymphopenia,... ORPHA:1572
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Impaired T cell function, Py... OMIM:258900
Periventricular Nodular Heterotopia
Thin skin, Periventricular heterotopia ORPHA:98892
Selective Igm Deficiency
Cutaneous abscess, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Lym... ORPHA:331235
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Impaired oxidative burst, Rectal abscess, Splenomegaly, Liver abscess, Lymphadenop... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Impaired oxidative burst, Rectal abscess, Splenomegaly, Liver abscess, Lymphadenop... OMIM:233710
Alkuraya-Kucinskas Syndrome
Aplasia/Hypoplasia of the corpus callosum, Gray matter heterotopia, Webbed neck, High palate, Hyd... OMIM:617822
Chiari Malformation Type Ii
Spina bifida, Hydrocephalus, Gray matter heterotopia, Myelomeningocele, Agenesis of corpus callosum OMIM:207950
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Roifman Syndrome
Eosinophilia, Lymphadenopathy, Splenomegaly OMIM:616651
Joubert Syndrome
Aplasia/Hypoplasia of the corpus callosum, Abnormality of neuronal migration, Oral cleft, Polymic... ORPHA:475
16Q24.3 Microdeletion Syndrome
Long philtrum, Periventricular heterotopia, Hypoplasia of the corpus callosum, Wide mouth, Smooth... ORPHA:261250
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia, Hypoplasia of the corpus callosum, Cerebral atrophy, Wide mouth, Protrud... OMIM:618797
Cinca Syndrome
Abnormality of neutrophils, Leukocytosis, Abnormal granulocyte morphology, Anemia, Splenomegaly, ... ORPHA:1451
Joubert Syndrome With Oculorenal Defect
Chorioretinal coloboma, Aplasia/Hypoplasia of the corpus callosum, Abnormality of neuronal migrat... ORPHA:2318
Pleural Mesothelioma
Lymphadenopathy ORPHA:50251
Van Maldergem Syndrome 1
Pachygyria, Downturned corners of mouth, Gray matter heterotopia, Hypoplasia of the corpus callos... OMIM:601390
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Pancytopenia, Thrombocytopenia, Leukopenia, Splenomegaly, Anemia, Hepatosplenom... OMIM:603553
Galloway-Mowat Syndrome
Pachygyria, Abnormality of the dentition, Aqueductal stenosis, Abnormality of neuronal migration,... ORPHA:2065
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Impaired oxidative burst, Rectal abscess, Splenomegaly, Liver abscess, Lymphadenop... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Impaired oxidative burst, Rectal abscess, Splenomegaly, Liver abscess, Lymphadenop... OMIM:233690
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Lymphopenia, Decreased proportion of naive CD8 T cells,... ORPHA:1830
Acute Promyelocytic Leukemia
Leukocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Leukopenia, Anemia, Lymphadenopathy ORPHA:520
Man1B1-Cdg
Short philtrum, Periventricular heterotopia, Smooth philtrum, Thick vermilion border, Thin upper ... ORPHA:397941
Desmoplastic Small Round Cell Tumor
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy ORPHA:83469
Intellectual Developmental Disorder, X-Linked 12
Microcephaly, Abnormal cerebral white matter morphology, Abnormality of neuronal migration OMIM:300957
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Pachygyria, Abnormal periventricular white matter morphology, Narrow mouth, Periventricular heter... ORPHA:468631
9Q21.13 Microdeletion Syndrome
Abnormal tongue morphology, Aplasia/Hypoplasia of the corpus callosum, Downturned corners of mout... ORPHA:531151
Adult-Onset Still Disease
Leukocytosis, Generalized lymphadenopathy, Splenomegaly, Neutrophilia, Bone marrow hypocellularity ORPHA:829
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly OMIM:619183
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Splenomegaly ORPHA:85414
Bare Lymphocyte Syndrome, Type Ii
Cutaneous anergy, Panhypogammaglobulinemia, Neutropenia, Agammaglobulinemia OMIM:209920
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Pancytopenia, Impaired T cell function, Th... OMIM:614576
Mevalonic Aciduria
Leukocytosis, Thrombocytopenia, Anemia, Normocytic hypoplastic anemia, Hepatosplenomegaly, Fluctu... OMIM:610377
Thanatophoric Dysplasia
Hydrocephalus, Gray matter heterotopia ORPHA:2655
Miller-Dieker Lissencephaly Syndrome
Cavum septum pellucidum, Delayed eruption of teeth, Pachygyria, Gray matter heterotopia, Hypoplas... OMIM:247200
Pseudo-Torch Syndrome 2
Microcephaly, Polymicrogyria, Cerebral calcification, Gray matter heterotopia OMIM:617397
Vici Syndrome
Cutaneous anergy, Decreased proportion of CD4-positive helper T cells, Decreased circulating IgG2... OMIM:242840
Aicardi Syndrome
Chorioretinal lacunae, Cavum septum pellucidum, Spina bifida, Pachygyria, Gray matter heterotopia... OMIM:304050
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Long philtrum, Short philtrum, Interhypothalamic Adhesion, Periventricular heterotopia, Smooth ph... OMIM:618929
Hereditary Orotic Aciduria
Impaired T cell function, Anemia, Splenomegaly ORPHA:30
Niemann-Pick Disease, Type A
Bone-marrow foam cells, Microcytic anemia, Sea-blue histiocytosis, Splenomegaly, Lymphadenopathy OMIM:257200
Periventricular Nodular Heterotopia 9
Gray matter heterotopia, Hypoplasia of the corpus callosum, Polymicrogyria, Gingival overgrowth, ... OMIM:618918
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Basal ganglia cysts, Narrow palate, High palate, Intracerebral periventricular calcifications, Ab... OMIM:608836
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Pachygyria, Agenesis of corpus callosum, Intracerebral periventricular calcifications, Abnormalit... ORPHA:228308
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-positive T cells,... ORPHA:508533
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Alg11-Cdg
Long philtrum, Cerebral white matter atrophy, Gray matter heterotopia, Abnormal cerebral white ma... ORPHA:280071
Peroxisome Biogenesis Disorder 1A (Zellweger)
Macroglossia, Aplasia/Hypoplasia of the corpus callosum, Pigmentary retinopathy, Gray matter hete... OMIM:214100
6Q Terminal Deletion Syndrome
Periventricular heterotopia, Gray matter heterotopia, Hypoplasia of the corpus callosum, Abnormal... ORPHA:75857
Lig4 Syndrome
Pancytopenia, Acute leukemia, Lymphadenopathy, Leukocytosis ORPHA:99812
Carnitine Palmitoyltransferase Ii Deficiency
Pachygyria, Agenesis of corpus callosum, Abnormality of neuronal migration, Abnormality of the ba... ORPHA:157
Holoprosencephaly
Chorioretinal coloboma, Panhypopituitarism, Median cleft lip and palate, Aplasia/Hypoplasia of th... ORPHA:2162
Bohring-Opitz Syndrome
Narrow palate, Gray matter heterotopia, Hypoplasia of the corpus callosum, Abnormality of the opt... OMIM:605039
Van Maldergem Syndrome 2
Downturned corners of mouth, Gray matter heterotopia, Hypoplasia of the corpus callosum, Tented u... OMIM:615546
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation, Decreased proportion of CD4-positive helper T cells ORPHA:66628
Lassa Fever
Thrombocytopenia, Leukopenia, Lymphadenopathy ORPHA:99824
Legionnaires Disease
Lymphopenia, Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:549
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Thrombocytosis, Leukocytosis, Decreased circulating antibody level, Lymphopenia, Pancytopenia, Le... OMIM:615688
Combined Immunodeficiency Due To Crac Channel Dysfunction
Thrombocytopenia, Hemolytic anemia, Lymphadenopathy, Splenomegaly ORPHA:169090
Orofaciodigital Syndrome Xvi
Hamartoma of tongue, Retinopathy, Gray matter heterotopia OMIM:617563
Castleman Disease
Generalized lymphadenopathy, Follicular hyperplasia, Thrombocytopenia, Anemia, Mediastinal lympha... ORPHA:160
Obesity Due To Leptin Receptor Gene Deficiency
Decreased T cell activation, Decreased proportion of CD4-positive helper T cells ORPHA:179494
Orofaciodigital Syndrome Xiv
Periventricular heterotopia, Retinal coloboma, Hypoplasia of the corpus callosum, Retinitis, Holo... OMIM:615948
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Multiple Myeloma
Decreased circulating antibody level, Increased circulating IgG level, Splenomegaly, Anemia, Incr... ORPHA:29073
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy, Increased circulating IgA level ORPHA:343
Kaposi Sarcoma
Abnormality of the spleen, Generalized lymphadenopathy ORPHA:33276
Spondyloenchondrodysplasia With Immune Dysregulation
T lymphocytopenia, Autoimmune thrombocytopenia, Lymphopenia, Neutropenia, Lymphadenopathy OMIM:607944
Orofaciodigital Syndrome Type 6
Hypothalamic hamartoma, Aplasia/Hypoplasia of the corpus callosum, Midline notch of upper alveola... ORPHA:2754
Orofaciodigital Syndrome Type 14
Periventricular heterotopia, Retinal coloboma, Webbed neck, Hypoplasia of the corpus callosum, Ha... ORPHA:434179
Mixed Connective Tissue Disease
Hemolytic anemia, Leukopenia, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:809
Pediatric Systemic Lupus Erythematosus
Microangiopathic hemolytic anemia, Lymphopenia, Thrombocytopenia, Leukopenia, Lymphadenopathy ORPHA:93552
Nephroblastoma
Lymphadenopathy ORPHA:654
Cutaneous Neuroendocrine Carcinoma
Lymphoid leukemia, Chronic noninfectious lymphadenopathy ORPHA:79140
Chédiak-Higashi Syndrome
Increased proportion of CD25+ mast cells, Hemophagocytosis, Abnormal platelet function, Vacuolate... ORPHA:167
American Trypanosomiasis
Lymphadenopathy, Splenomegaly ORPHA:3386
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Scrub Typhus
Lymphadenopathy, Splenomegaly ORPHA:83317
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Thrombocytopenia, Splenomegaly, Leukopenia, Anemia, Lymphadenopathy OMIM:267700
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Open bite, Macroglossia, Open mouth, Downturned corners of mouth, Gray matter heterotopia, Hypopl... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Open bite, Macroglossia, Open mouth, Downturned corners of mouth, Gray matter heterotopia, Hypopl... ORPHA:352665
Kikuchi-Fujimoto Disease
Lymphocytosis, Generalized lymphadenopathy, Neutropenia, Thrombocytopenia, Leukopenia, Splenomega... ORPHA:50918
Nijmegen Breakage Syndrome
T lymphocytopenia, Autoimmune hemolytic anemia, Thrombocytopenia, Dysgammaglobulinemia, B lymphoc... OMIM:251260
Igg4-Related Submandibular Gland Disease
Increased circulating IgE level, Increased circulating antibody level, Increased circulating IgG4... ORPHA:449432
Waldenström Macroglobulinemia
Abnormality of neutrophils, Normocytic anemia, Splenomegaly, Leukemia, Monoclonal immunoglobulin ... ORPHA:33226
Cerebrofacioarticular Syndrome
Narrow mouth, Gray matter heterotopia, Hypoplasia of the corpus callosum, Irregular dentition, Dy... ORPHA:314679
Neuromuscular Oculoauditory Syndrome
Chorioretinal lacunae, Retinal pigment epithelial mottling, Agenesis of corpus callosum, Perivent... OMIM:618733
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Thrombocytosis, Increased circulating IgE level, Defective T cell proliferati... OMIM:618213
Drug Rash With Eosinophilia And Systemic Symptoms
Lymphocytosis, Eosinophilia, Lymphadenopathy ORPHA:139402
Opitz-Kaveggia Syndrome
Long philtrum, Narrow palate, Dental crowding, Gray matter heterotopia, Wide mouth, Cleft upper l... OMIM:305450
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Iron deficiency anemia, Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T... ORPHA:37042
Medullary Thyroid Carcinoma
Lymphadenopathy ORPHA:1332
Joubert Syndrome With Hepatic Defect
Chorioretinal coloboma, Aplasia/Hypoplasia of the corpus callosum, Optic disc coloboma, Abnormali... ORPHA:1454
Klatskin Tumor
Lymphadenopathy ORPHA:99978
Pagod Syndrome
Spina bifida, Death in infancy, Abnormality of neuronal migration, Meningocele, Microcephaly, Opt... ORPHA:991
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Gray matter heterotopia OMIM:219730
Poems Syndrome
Increased circulating antibody level, Polycythemia, Thrombocytosis, Lymphadenopathy ORPHA:2905
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Oligodontia, Macroglossia, Downturned corners of mouth, Open mouth, Gray matter heterotopia, Hypo... ORPHA:453499
Hypocomplementemic Urticarial Vasculitis
Lymphadenopathy, Splenomegaly ORPHA:36412
Koolen-De Vries Syndrome
Narrow palate, Open mouth, Gray matter heterotopia, Hypoplasia of the corpus callosum, Everted lo... OMIM:610443
Thymic Neuroendocrine Tumor
Mediastinal lymphadenopathy, Chronic noninfectious lymphadenopathy, Neoplasm of the thymus ORPHA:97289
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Progeria-Short Stature-Pigmented Nevi Syndrome
T lymphocytopenia, Microcytic anemia ORPHA:2959
Q Fever
Increased circulating antibody level, Granuloma, Thrombocytopenia, Anemia, Splenomegaly, Hepatosp... ORPHA:781
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Hydrolethalus Syndrome 1
Agenesis of corpus callosum, Stillbirth, Absent septum pellucidum, Gray matter heterotopia, Arrhi... OMIM:236680
Thanatophoric Dysplasia Type 1
Hydrocephalus, Gray matter heterotopia ORPHA:1860
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypoplasia of the corpus callosum, Abnormality of neuronal migration, Cerebral cortical atrophy, ... ORPHA:464311
Arima Syndrome
Chorioretinal coloboma, Gray matter heterotopia, Wide mouth, Occipital meningocele, Retinal dystr... OMIM:243910
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Holoprosencephaly, Abnormality of neuronal migration, Oral cleft, Microcephaly, Median cleft lip ORPHA:3186
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Increased circulating antibody level, Generalized lymphadenopat... OMIM:181000
Hennekam Syndrome
Decreased circulating antibody level, Lymphopenia, Pulmonary lymphangiectasia, Splenomegaly, Lymp... ORPHA:2136
Bilateral Perisylvian Polymicrogyria
Drooling, Ectopic posterior pituitary, Abnormality of neuronal migration, Protruding tongue, Bila... ORPHA:98889
Neurofibromatosis Type 2
Remnants of the hyaloid vascular system, Retinal hamartoma, Epiretinal membrane, Abnormality of t... ORPHA:637
Acute Interstitial Pneumonia
Reduced hematocrit, Lymphadenopathy ORPHA:79126
Malt Lymphoma
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy ORPHA:52417
Carney Triad
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy ORPHA:139411
Genitourinary And/Or Brain Malformation Syndrome
Long philtrum, Agenesis of corpus callosum, Absent septum pellucidum, Gray matter heterotopia, Ho... OMIM:618820
Fontaine Progeroid Syndrome
Long philtrum, Oligodontia, Narrow mouth, Periventricular heterotopia, Gray matter heterotopia, H... OMIM:612289
Graft Versus Host Disease
Hemophagocytosis, Hepatosplenomegaly, Lymphadenopathy ORPHA:39812
Microphthalmia, Syndromic 2
Long philtrum, Oligodontia, Remnants of the hyaloid vascular system, Delayed eruption of teeth, H... OMIM:300166
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Remnants of the hyaloid vascular system, Retinal fold, Retinal nonattachment OMIM:221900
Brucellosis
Lung abscess, Thrombocytosis, Increased circulating IgM level, Leukocytosis, Granuloma, Thrombocy... ORPHA:1304
Pancreatoblastoma
Abnormality of the lymph nodes ORPHA:677
Immunodeficiency 58
Cutaneous abscess, Decreased specific antibody response to vaccination, Decreased circulating ant... OMIM:618131
H Syndrome
Histiocytosis, Hepatosplenomegaly, Lymphadenopathy, Microcytic anemia ORPHA:168569
Tangier Disease
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Thrombocytopenia, Anemia, Hepat... ORPHA:31150
Farber Disease
Thrombocytopenia, Hepatosplenomegaly, Anemia, Lymphadenopathy ORPHA:333
Primary Sjögren Syndrome
Decreased circulating antibody level, Decreased proportion of CD4-positive helper T cells, Lympho... ORPHA:289390
Familial Pancreatic Carcinoma
Peritoneal abscess, Hepatosplenomegaly, Lymphadenopathy ORPHA:1333
Coccidioidomycosis
Increased circulating IgM level, Granuloma, Lymphadenopathy, Increased circulating IgG level, Med... ORPHA:228123
Lymphatic Filariasis
Lymphadenitis, Lymphangiectasis, Hypereosinophilia, Abnormality of the lymphatic system, Lymphade... ORPHA:2035
Histiocytosis-Lymphadenopathy Plus Syndrome
Histiocytosis, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, Cervical lymphadenopathy OMIM:602782
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Nijmegen Breakage Syndrome
Deep philtrum, Non-midline cleft lip, Abnormality of neuronal migration, Cleft palate, Microcephaly ORPHA:647
Igg4-Related Kidney Disease
Increased circulating IgG1 level, Increased circulating IgE level, Lymphadenitis, Increased circu... ORPHA:449395
Norrie Disease
Abnormal chorioretinal morphology, Thin vermilion border, Remnants of the hyaloid vascular system... ORPHA:649
Multiple Acyl-Coa Dehydrogenase Deficiency
Gray matter heterotopia ORPHA:26791
Epidermolysis Bullosa Junctionalis With Pyloric Atresia
Milia, Atrophic scars, Death in infancy, Aplasia cutis congenita OMIM:226730
Riddle Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Generalized lymphadenopathy, De... ORPHA:420741
Idiopathic Hypereosinophilic Syndrome
Thrombocytosis, Leukocytosis, Generalized lymphadenopathy, Thrombocytopenia, Eosinophilia, Anemia... ORPHA:3260
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hepatosplenomegaly, Anemia, Lymphadenopathy ORPHA:85408
Proteasome-Associated Autoinflammatory Syndrome 1
Microcytic anemia, Increased circulating IgA level, Increased circulating antibody level, Thrombo... OMIM:256040
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Leukocytosis, Lymphadenopathy, Splenomegaly ORPHA:32960
Igg4-Related Ophthalmic Disease
Eosinophilia, Increased circulating IgE level, Lymphadenopathy, Increased circulating IgG4 level ORPHA:449563
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Pachygyria, Stillbirth, Gray matter heterotopia, Hypoplasia of the frontal lobes, Microcephaly, A... OMIM:210710
Mismatch Repair Cancer Syndrome 1
Agenesis of corpus callosum, Gray matter heterotopia OMIM:276300
Sarcoidosis
Hemolytic anemia, Increased T cell count, Thrombocytopenia, Eosinophilia, Leukopenia, Anemia, Abn... ORPHA:797
Ileal Neuroendocrine Tumor
Iron deficiency anemia, Lymphadenopathy ORPHA:100078
Jejunal Neuroendocrine Tumor
Iron deficiency anemia, Lymphadenopathy ORPHA:100077
Lymphangioleiomyomatosis
Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system, Lymphadenopathy ORPHA:538
Duodenal Neuroendocrine Tumor
Iron deficiency anemia, Increased hematocrit, Lymphadenopathy ORPHA:100076
Cherubism
Submandibular lymph node enlargement OMIM:118400
22Q11.2 Deletion Syndrome
Hypoplasia of the thymus, Impaired T cell function, Thrombocytopenia, Splenomegaly, Abnormality o... ORPHA:567
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Open mouth, Dental crowding, Periventricular heterotopia, Cerebral white matter hypoplasia, Abnor... ORPHA:261537
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100086
Proteus Syndrome
Chorioretinal coloboma, Abnormality of retinal pigmentation, Carious teeth, Abnormal dental ename... ORPHA:744
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Open mouth, Dental crowding, Periventricular heterotopia, Cerebral white matter hypoplasia, Abnor... ORPHA:261552
Velocardiofacial Syndrome
Impaired T cell function OMIM:192430
Superficial Siderosis
Abnormal corpus callosum morphology, Dysgyria ORPHA:247245
Mowat-Wilson Syndrome
Open mouth, Dental crowding, Periventricular heterotopia, Abnormality of dental morphology, Retin... ORPHA:2152
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
Familial Mediterranean Fever
Lymphadenopathy, Splenomegaly ORPHA:342
Autosomal Recessive Malignant Osteopetrosis
Anemia, Lymphadenopathy, Splenomegaly ORPHA:667
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Digeorge Syndrome
Impaired T cell function, Abnormality of the thymus OMIM:188400
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function OMIM:176690
Behçet Disease
Lymphadenopathy, Splenomegaly ORPHA:117
Genitopatellar Syndrome
Delayed eruption of teeth, Colpocephaly, Periventricular heterotopia, Microcephaly, Agenesis of c... OMIM:606170
African Trypanosomiasis
Hepatosplenomegaly, Lymphadenopathy, Splenomegaly ORPHA:3385
Blau Syndrome
Anemia, Lymphadenopathy, Splenomegaly ORPHA:90340
Leptospirosis
Thrombocytopenia, Lymphadenopathy 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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