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Gene: Ano2 MGI:2387214

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Gene Summary

Name:
anoctamin 2
Synonyms:
Tmem16b

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal lymph node morphology Ano2em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged lymph nodes Ano2em1(IMPC)Ccpcz HOM Early adult 0.00
hyperactivity Ano2em1(IMPC)Ccpcz HOM   Early adult 4.31×10-07
abnormal thymus morphology Ano2em1(IMPC)Ccpcz HOM Early adult 0.00
decreased thigmotaxis Ano2em1(IMPC)Ccpcz HOM   Early adult 9.79×10-06
enlarged thymus Ano2em1(IMPC)Ccpcz HOM Early adult 0.00
decreased anxiety-related response Ano2em1(IMPC)Ccpcz HOM Early adult 2.39×10-07

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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.

X-ray

XRay Images Hind Leg and Hip

42 Images

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X-ray

XRay Images Forepaw

21 Images

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X-ray

XRay Images Whole Body Lateral Orientation

21 Images

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X-ray

XRay Images Skull Lateral Orientation

21 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

21 Images

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X-ray

XRay Images Whole Body Dorso Ventral

42 Images

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Human diseases caused by Ano2 mutations

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

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

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

The table below shows human diseases predicted to be associated to Ano2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly, Anorexia ORPHA:52416
Immunodeficiency 38 With Basal Ganglia Calcification
Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy OMIM:616126
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis ORPHA:60026
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Aggressive behavior, Hyperactivity ORPHA:356996
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia... OMIM:619126
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Kerion Celsi
Lymphadenopathy ORPHA:499
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Anorexia ORPHA:86893
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Chronic noninfectious lymphadenopathy, Oral-pharyngeal dyspha... ORPHA:100083
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Dysphagia, Hyperactivity, Impulsivity OMIM:620448
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune thrombocytope... ORPHA:444463
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Immunodeficiency 104
T lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:608971
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Glycine Encephalopathy 1
Irritability, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Recurrent tonsillitis, Splenomegaly, Lymphadenopathy OMIM:618852
Hartnup Disorder
Emotional lability, Attention deficit hyperactivity disorder, Hyperactivity OMIM:234500
Immunodeficiency 27A
Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Lymphadenopathy, Anorexia, Anemia... OMIM:209950
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Nodular goiter, Chronic noninfectious lymphadenopathy, Goiter, Abnormal lymph node morphology ORPHA:97290
Familial Papillary Or Follicular Thyroid Carcinoma
Nodular goiter, Chronic noninfectious lymphadenopathy, Goiter, Abnormal lymph node morphology ORPHA:319487
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Mast Cell Sarcoma
Mastocytosis, Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy ORPHA:66661
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea... OMIM:619846
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Macro... ORPHA:3077
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia OMIM:619164
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:617113
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o... OMIM:619220
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... OMIM:615513
8p23.1 deletion syndrome
Hyperactivity, Cryptorchidism DECIPHER:39
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Pleural Mesothelioma
Dysphagia, Lymphadenopathy ORPHA:50251
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... OMIM:617514
Hyperprolinemia, Type I
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:239500
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Aggressive behavior, Hyperactivity, Compulsive behaviors OMIM:301107
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... OMIM:212050
Morm Syndrome
Aggressive behavior, Hyperactivity ORPHA:75858
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells OMIM:618982
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy ORPHA:545
Immunodeficiency 105
Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Pancytopen... OMIM:619924
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly, Anorexia ORPHA:391
Mu-Heavy Chain Disease
Anemia, Abnormal B cell count, Splenomegaly, Lymphadenopathy ORPHA:100024
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Decreased proportio... OMIM:300853
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Lymphadenopathy, Neutropenia, Thrombocytopenia, Anemia OMIM:603552
Intellectual Developmental Disorder, Autosomal Dominant 67
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity OMIM:619927
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Cervical lymphadenopathy, B lymphocytopenia OMIM:618987
Thyroid Lymphoma
Dysphagia, Lymphadenopathy, Goiter ORPHA:97285
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica... OMIM:618534
Burkitt Lymphoma
Abnormality of the ovary, Abnormality of the spleen, Decreased proportion of CD4-positive helper ... ORPHA:543
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Phenylketonuria
Depression, Self-mutilation, Irritability, Aggressive behavior, Attention deficit hyperactivity d... OMIM:261600
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Alpha-Heavy Chain Disease
Anemia, Splenomegaly, Lymphadenopathy ORPHA:100025
Leishmaniasis
Leukopenia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Thromboc... ORPHA:507
Medullary Thyroid Carcinoma
Pheochromocytoma, Lymphadenopathy, Nodular goiter, Dysphagia, Primary hyperparathyroidism ORPHA:1332
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom... OMIM:602450
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocytosis, Leuk... OMIM:614470
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune thrombocytopenia, Absence of lymph node germinal center, Autoimmune hemolytic anemia OMIM:608184
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia OMIM:613101
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Aregenerative Anemia
Bone marrow hypocellularity, Depression, Pancytopenia, Decreased proportion of CD4-positive helpe... ORPHA:101096
Rhabdoid Tumor
Anemia, Lymphadenopathy, Thrombocytopenia, Irritability ORPHA:69077
Primary Myelofibrosis
Extramedullary hematopoiesis, Anorexia, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomeg... ORPHA:824
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Anaplastic Thyroid Carcinoma
Nodular goiter, Dysphagia, Lymphadenopathy, Goiter ORPHA:142
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Throm... ORPHA:100026
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti... OMIM:619827
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity ORPHA:101039
Isolated Anencephaly
Thymus hyperplasia ORPHA:563609
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, Neutropenia, B lymphocytopenia, Intermitte... OMIM:150550
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Absent circulating B cells OMIM:620282
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, Lymphopenia, B lymphocytopenia, Absent tonsils, T lymphocy... ORPHA:277
Pfapa Syndrome
Splenomegaly, Lymphadenopathy ORPHA:42642
Graves Disease
Polyphagia, Irritability, Hyperactivity, Goiter OMIM:275000
Immunodeficiency, Common Variable, 2
Splenomegaly, Abnormal T cell count, Follicular hyperplasia, Lymphadenopathy OMIM:240500
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy OMIM:607271
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... OMIM:619375
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Abnormal m... ORPHA:98848
Schnitzler Syndrome
Anemia, Splenomegaly, Leukocytosis, Lymphadenopathy ORPHA:37748
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Leukocytosis, Lymphadenopathy OMIM:611762
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Bruxism, Motor stereotypy, Hyperactivity, Paroxysmal bursts of laughter OMIM:618718
Fish-Eye Disease
Splenomegaly, Lymphadenopathy ORPHA:79292
Aggressive Systemic Mastocytosis
Hypersplenism, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Increased proportion of CD25+ mast... ORPHA:98850
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia OMIM:618495
Immune Dysregulation, Autoimmunity, And Autoinflammation
Cervical lymphadenopathy, Inguinal lymphadenopathy, Anemia OMIM:620514
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Lymphocytos... ORPHA:514
Intellectual Developmental Disorder, Autosomal Recessive 38
Aggressive behavior, Recurrent hand flapping, Hyperactivity, Self-mutilation OMIM:615516
Classic Mycosis Fungoides
Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy ORPHA:2584
Immunodeficiency, Common Variable, 1
Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph... OMIM:607594
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoimmune hemolytic anemia, Splen... OMIM:601859
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Macroorchidism, Hyperactivity, Elevated circulating growth hormone concentra... ORPHA:85327
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Abnormal lymph node morphology, Abnormality of the lymphatic system, Abnormal testi... ORPHA:54251
Immunodeficiency 7
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia OMIM:615387
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoimmune hemolytic anemia, Splen... OMIM:603909
Immunodeficiency 54
Adrenocorticotropic hormone excess, Splenomegaly, Reduced natural killer cell count, Lymphadenopathy OMIM:609981
Tularemia
Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Lymphadenopat... ORPHA:3392
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Microcytic anemia, Splenomegaly, Irritability, Lymphadenopathy, Bone-marr... OMIM:257200
Congenital Toxoplasmosis
Anemia, Lymphadenopathy, Thrombocytopenia ORPHA:858
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism, Hyperactivity, Impulsivity OMIM:300143
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Activated Pi3K-Delta Syndrome
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia ORPHA:397596
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... OMIM:620141
Fragile X Syndrome
Recurrent hand flapping, Macroorchidism, postpubertal, Hyperactivity, Self-biting, Congenital mac... OMIM:300624
Cold Agglutinin Disease
Hemolytic anemia, Splenomegaly, Lymphadenopathy ORPHA:56425
Lymphoproliferative Syndrome 2
Aplastic anemia, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymphadenopathy OMIM:615122
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia ORPHA:79477
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo... ORPHA:3226
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa... ORPHA:911
Lymphoproliferative Syndrome, X-Linked, 1
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp... OMIM:308240
Cinca Syndrome
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Lymphadenopathy, Anemia OMIM:607115
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag... OMIM:619802
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
Heme Oxygenase 1 Deficiency
Cervical lymphadenopathy, Coombs-positive hemolytic anemia, Lymphadenopathy, Thrombocytosis, Aspl... OMIM:614034
Desmoplastic Small Round Cell Tumor
Lymphadenopathy, Testicular neoplasm, Anemia, Ovarian neoplasm, Mediastinal lymphadenopathy, Neop... ORPHA:83469
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope... ORPHA:276
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia, Irritability, Aggressive behavior, Hyperactivity, Motor stereotypy ORPHA:391307
Thymic Neuroendocrine Tumor
Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulating prolactin concentratio... ORPHA:97289
Acute Promyelocytic Leukemia
Pancytopenia, Leukopenia, Leukocytosis, Addictive alcohol use, Lymphadenopathy, Neutropenia, Anor... ORPHA:520
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Lymphadenopathy, Thrombocytopenia, ... OMIM:603554
Intellectual Developmental Disorder, X-Linked 107
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity OMIM:301013
Mucopolysaccharidosis, Type Iiib
Aggressive behavior, Hyperactivity, Splenomegaly OMIM:252920
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple... OMIM:301078
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Abnormal erythrocyte enzyme concentration or activity... ORPHA:100924
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... ORPHA:169154
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Impaired oxidative burst, ... OMIM:618935
Boutonneuse Fever
Cervical lymphadenopathy, Leukopenia, Lymphadenopathy, Thrombocytopenia ORPHA:83313
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphadenitis, Lymphopenia, Hepatosplenomeg... OMIM:618986
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Lymphadenopathy ORPHA:2221
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Lymphadenopathy, Thrombocytopenia, B lymphocytopenia, Inc... OMIM:618048
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Depression, Recurrent hand flapping, Irritabil... ORPHA:449291
Nephroblastoma
Lymphadenopathy ORPHA:654
Griscelli Syndrome
Bone marrow hypocellularity, Leukopenia, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Abnorma... ORPHA:381
Purine Nucleoside Phosphorylase Deficiency
Lymphopenia, Lymph node hypoplasia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in pre... OMIM:613179
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Leukopenia, Splenomegaly, Irritability, Lymphadenopathy, Thrombocytopenia, Anemia OMIM:267700
Proteasome-Associated Autoinflammatory Syndrome 4
Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia OMIM:619183
Cyclic Neutropenia
Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Lymphadenopathy... ORPHA:2686
Roifman Syndrome
Splenomegaly, Eosinophilia, Lymphadenopathy OMIM:616651
Carney Triad
Pheochromocytoma, Lymphadenopathy, Anorexia, Anemia, Mediastinal lymphadenopathy ORPHA:139411
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy OMIM:619750
Roifman Syndrome
Eosinophilia, Hepatosplenomegaly, Lymphadenopathy ORPHA:353298
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Lymphadenopathy, Thrombocytopenia, Monocytosis OMIM:619644
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Lymphadenopathy ORPHA:85414
Sézary Syndrome
Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy ORPHA:3162
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukopenia, Splenomegaly, Irritability, Lymph... OMIM:603553
Omenn Syndrome
Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia, Lymphadenopathy, Anemia ORPHA:39041
Papa Syndrome
Lymphadenopathy ORPHA:69126
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolytic anemia, Lymphade... OMIM:304790
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Autoimmune thrombocytopenia OMIM:616100
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Legionnaires Disease
Bone marrow hypocellularity, Lymphopenia, Splenomegaly, Lymphadenopathy, Anorexia ORPHA:549
Familial Gestational Hyperthyroidism
Thyroid hyperplasia, Hyperactivity, Agitation, Goiter ORPHA:99819
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior ORPHA:309246
Pancreatoblastoma
Pancreatic calcification, Abnormal lymph node morphology ORPHA:677
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Tafro Syndrome
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia ORPHA:457077
Proteus-Like Syndrome
Splenomegaly, Thymus hyperplasia, Abnormality of the parathyroid gland, Polycystic ovaries ORPHA:2969
Cinca Syndrome
Leukocytosis, Splenomegaly, Lymphadenopathy, Anemia, Abnormality of neutrophils, Abnormal granulo... ORPHA:1451
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Thyroid hyperplasia, Hyperactivity, Agitation, Goiter ORPHA:424
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Hypopituitarism, Increased B cell count, Absent peripheral lymph nodes in presence of infection, ... ORPHA:98813
Castleman Disease
Follicular hyperplasia, Generalized lymphadenopathy, Lymphadenopathy, Thrombocytopenia, Anemia, D... ORPHA:160
Immunodeficiency 10
Splenomegaly, Autoimmune hemolytic anemia, Abnormal lymphocyte count, Lymphadenopathy, Autoimmune... OMIM:612783
Felty Syndrome
Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy, Neutr... ORPHA:47612
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Myeloproliferative disorder, Lymphadenopathy, Lymphocytosis ORPHA:79456
Neuroendocrine Tumor Of The Colon
Chronic noninfectious lymphadenopathy, Anorexia ORPHA:100080
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Hepatosplenomegaly, Ovarian carcinoma, Lymphadenopathy, Anorexia ORPHA:1333
Macrophage Activation Syndrome
Hemophagocytosis, Splenomegaly, Lymphadenopathy, Neutropenia, Thrombocytopenia, Anemia, Abnormal ... ORPHA:158061
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Hepatosplenomegaly, Decreased CD4:CD8 ratio... OMIM:606367
Kaposi Sarcoma
Abnormality of the spleen, Generalized lymphadenopathy ORPHA:33276
Scrub Typhus
Splenomegaly, Lymphadenopathy ORPHA:83317
Klatskin Tumor
Lymphadenopathy ORPHA:99978
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Enlargement of parotid glan... ORPHA:50918
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Splenomegaly, Generalized lymphadenopathy, Decreased p... OMIM:614700
American Trypanosomiasis
Splenomegaly, Lymphadenopathy ORPHA:3386
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Hemolytic anemia, Lymphadenopathy, Thrombocytopenia ORPHA:169090
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Lig4 Syndrome
Acute leukemia, Pancytopenia, Leukocytosis, Cryptorchidism, Lymphadenopathy ORPHA:99812
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Hereditary Amyloidosis With Primary Renal Involvement
Abnormal lymph node morphology, Hepatosplenomegaly, Lymphadenopathy, Abnormal testis morphology, ... ORPHA:85450
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr... ORPHA:436159
Adult-Onset Still Disease
Bone marrow hypocellularity, Leukocytosis, Splenomegaly, Generalized lymphadenopathy, Lymphadenop... ORPHA:829
Waldenström Macroglobulinemia
Normocytic anemia, Splenomegaly, Lymphadenopathy, Anorexia, Leukemia, Abnormality of neutrophils ORPHA:33226
Neuroblastoma
Anemia, Lymphadenopathy, Thrombocytopenia, Irritability ORPHA:635
Bronchial Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentration, Anorexia ORPHA:97287
Cutaneous Neuroendocrine Carcinoma
Lymphoid leukemia, Chronic noninfectious lymphadenopathy ORPHA:79140
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased proportion of CD4-positive T cells, Leukocytosis, Lymphadenopathy, Neutrophilia OMIM:617099
Neuroendocrine Tumor Of The Rectum
Chronic noninfectious lymphadenopathy, Anorexia ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Chronic noninfectious lymphadenopathy, Anorexia ORPHA:100082
Graft Versus Host Disease
Hepatosplenomegaly, Irritability, Hemophagocytosis, Lymphadenopathy ORPHA:39812
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Anorexia ORPHA:100086
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Absence of lymph node germinal center, Hepatosplenomegaly... ORPHA:79124
Hyperthyroidism, Nonautoimmune
Thyroid hyperplasia, Hyperactivity, Goiter OMIM:609152
Mevalonic Aciduria
Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Lymphadenopathy, Thrombocytopenia, An... OMIM:610377
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Splenomegaly, Lymphadenopathy, Neutropenia, Thrombocytopenia, Anemia ORPHA:540
Chediak-Higashi Syndrome
Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Abnormal dense granules, L... OMIM:214500
Immunodeficiency With Hyper-Igm, Type 1
Absence of lymph node germinal center, Splenomegaly, Thrombocytopenia, Neutropenia, Enlarged tons... OMIM:308230
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia OMIM:617591
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent natural killer cells, Lymphopenia, Absent peripheral lymph nodes in presence of infection,... OMIM:600802
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Bone marrow hypocellularity, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Leukopenia, Leukocyto... OMIM:615688
Pituitary Adenoma 4, Acth-Secreting
Emotional lability, Pituitary adenoma, Abnormal fear-induced behavior OMIM:219090
Hypocomplementemic Urticarial Vasculitis
Splenomegaly, Lymphadenopathy ORPHA:36412
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Leukopenia, Follicular hyperplasia, Thrombocytosis, Anemia, Paratracheal lymphadenop... OMIM:615934
Mixed Connective Tissue Disease
Leukopenia, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:809
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232
Immunodeficiency 55
Lymphopenia, Absent natural killer cells, Lymphadenopathy, Neutropenia OMIM:617827
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis OMIM:233710
Hyper-Igd Syndrome
Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Neutrophilia OMIM:260920
Lymphatic Filariasis
Lymphadenitis, Hypereosinophilia, Orchitis, Abnormality of the lymphatic system, Vaginal hydrocel... ORPHA:2035
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy ORPHA:343
Acute Generalized Exanthematous Pustulosis
Leukocytosis, Eosinophilia, Lymphadenopathy, Neutropenia, Neutrophilia ORPHA:293173
Malt Lymphoma
Anemia, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:52417
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis OMIM:233690
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenitis, Leukocytosis, Splenomegaly, Lymphadenopathy, Anemia OMIM:615895
Agammaglobulinemia, X-Linked
Lymph node hypoplasia, Neutropenia, B lymphocytopenia, Anemia, T lymphocytopenia OMIM:300755
Q Fever
Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anorexia, Anemia ORPHA:781
Acute Interstitial Pneumonia
Reduced hematocrit, Lymphadenopathy ORPHA:79126
Pediatric Systemic Lupus Erythematosus
Microangiopathic hemolytic anemia, Lymphopenia, Leukopenia, Lymphadenopathy, Thrombocytopenia ORPHA:93552
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Coombs-positive hemolytic anemia, L... ORPHA:83471
Argininemia
Irritability, Reduced erythrocyte arginase activity, Hyperactivity, Anorexia OMIM:207800
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphocytosis, Lymphadenopathy ORPHA:139402
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Cervical lymphadenopathy, Lymphocytosis, Lymphadenopathy, Thrombo... OMIM:617718
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Common Variable Immunodeficiency
Lymphopenia, Splenomegaly, Lymphadenopathy, Autoimmune thrombocytopenia, Hemolytic anemia ORPHA:1572
Primary Hepatic Neuroendocrine Carcinoma
Chronic noninfectious lymphadenopathy, Anorexia ORPHA:100085
Histidinemia
Hyperactivity ORPHA:2157
Neuroendocrine Tumor Of Stomach
Iron deficiency anemia, Chronic noninfectious lymphadenopathy, Anorexia ORPHA:100075
Autoimmune Lymphoproliferative Syndrome
Bone marrow hypocellularity, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive hel... ORPHA:3261
Poems Syndrome
Polycythemia, Increased circulating prolactin concentration, Splenomegaly, Lymphadenopathy, Throm... ORPHA:2905
Systemic Lupus Erythematosus
Depression, Leukopenia, Lymphadenopathy, Thrombocytopenia, Anorexia, Hemolytic anemia ORPHA:536
Farber Disease
Anemia, Hepatosplenomegaly, Lymphadenopathy, Thrombocytopenia ORPHA:333
Histiocytosis-Lymphadenopathy Plus Syndrome
Pancreatic hypoplasia, Decreased response to growth hormone stimulation test, Cervical lymphadeno... OMIM:602782
Chédiak-Higashi Syndrome
Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ... ORPHA:167
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis OMIM:306400
H Syndrome
Microcytic anemia, Decreased testicular size, Hepatosplenomegaly, Lymphadenopathy, Histiocytosis ORPHA:168569
Familial Mediterranean Fever
Depression, Leukocytosis, Splenomegaly, Orchitis, Lymphadenopathy ORPHA:342
Selective Igm Deficiency
Decreased proportion of transitional B cells, Lymphadenitis, Decreased proportion of CD8-positive... ORPHA:331235
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Mediastinal lymphadenopathy, Leukocytosis, Hilar lymph node enlargement OMIM:620233
Neuroendocrine Neoplasm Of Appendix
Adrenocorticotropic hormone excess, Ovarian neoplasm, Chronic noninfectious lymphadenopathy, Anor... ORPHA:100079
Brucellosis
Depression, Leukopenia, Hypersplenism, Leukocytosis, Splenomegaly, Thrombocytosis, Orchitis, Lymp... ORPHA:1304
Immunodeficiency 31C
Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Impaired lymphocyte transformation with p... OMIM:614162
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Splenomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i... ORPHA:37042
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphopenia, T lymphocytopenia, Lymphadenopathy, Neutropenia, Autoimmune thrombocytopenia OMIM:607944
Tangier Disease
Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Orange discolored tonsils, Thrombocyto... ORPHA:31150
Congenital Syphilis
Extramedullary hematopoiesis, Hepatosplenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia ORPHA:499009
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Abnormal pancreas morphology, Abnormality of the submandibular glands, ... ORPHA:449432
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Polysplenia, Splenomegaly, Lymphadenopathy, Anemia OMIM:619418
Idiopathic Hypereosinophilic Syndrome
Cervical lymphadenopathy, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Eosinop... ORPHA:3260
Immunodeficiency 82 With Systemic Inflammation
Reduced natural killer cell count, Decreased proportion of naive T cells, Follicular hyperplasia,... OMIM:619381
Multiple Myeloma
Anemia, Splenomegaly, Lymphadenopathy ORPHA:29073
Cherubism
Submandibular lymph node enlargement OMIM:118400
Sarcoidosis, Susceptibility To, 1
Abnormal salivary gland morphology, Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Anor... OMIM:181000
Behçet Disease
Splenomegaly, Orchitis, Irritability, Lymphadenopathy, Anorexia ORPHA:117
Crimean-Congo Hemorrhagic Fever
Parotitis, Anorexia, Pancytopenia, Leukopenia, Leukocytosis, Splenomegaly, Emotional lability, Or... ORPHA:99827
Cushing Syndrome Due To Ectopic Acth Secretion
Depression, Abnormal lymph node morphology, Pancreatic adenocarcinoma, Lymphopenia, Pheochromocyt... ORPHA:99889
Chikungunya
Cervical lymphadenopathy, Depression, Lymphadenopathy ORPHA:324625
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Anemia, Hepatosplenomegaly, Lymphadenopathy ORPHA:85408
Hennekam Syndrome
Lymphopenia, Splenomegaly, Lymphadenopathy, Pulmonary lymphangiectasia, Lymphangioma ORPHA:2136
Riddle Syndrome
Generalized lymphadenopathy, Emotional lability ORPHA:420741
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Lymphopenia, Abnormal lymphocyte morphology, Leukopenia, R... ORPHA:99826
Primary Sjögren Syndrome
Normocytic anemia, Depression, Parotitis, Lymphopenia, Leukopenia, Decreased proportion of CD4-po... ORPHA:289390
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Splenomegaly, Leukocytosis, Lymphadenopathy, Orchitis ORPHA:32960
Lymphangioleiomyomatosis
Pulmonary lymphangiomyomatosis, Lymphadenopathy, Abnormality of the lymphatic system ORPHA:538
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Abnormal fear-induced behavior, Cryptorchidism, Emotional lability, Aggr... ORPHA:353281
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Igg4-Related Dacryoadenitis And Sialadenitis
Abnormal salivary gland morphology, Abnormality of the submandibular glands, Enlargement of parot... ORPHA:79078
Ileal Neuroendocrine Tumor
Iron deficiency anemia, Lymphadenopathy ORPHA:100078
Coccidioidomycosis
Abnormality of the spleen, Eosinophilia, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:228123
Sarcoidosis
Abnormal lymph node morphology, Parotitis, Leukopenia, Enlargement of parotid gland, Increased T ... ORPHA:797
Leptospirosis
Lymphadenopathy, Thrombocytopenia, Anorexia ORPHA:509
Kawasaki Disease
Cervical lymphadenopathy, Leukocytosis, Irritability, Thrombocytosis ORPHA:2331
Proteus Syndrome
Thymus hyperplasia, Neoplasm of the thymus, Splenomegaly, Lymphangioma, Enlarged polycystic ovari... ORPHA:744
Plague
Depression, Lymphadenitis, Splenomegaly, Anorexia, Enlarged mesenteric lymph node ORPHA:707
Autosomal Recessive Malignant Osteopetrosis
Anemia, Splenomegaly, Lymphadenopathy ORPHA:667
Igg4-Related Ophthalmic Disease
Sialadenitis, Orchitis, Eosinophilia, Abnormality of the anterior pituitary, Lymphadenopathy, Enl... ORPHA:449563
African Trypanosomiasis
Hepatosplenomegaly, Splenomegaly, Irritability, Aggressive behavior, Lymphadenopathy, Abnormal pr... ORPHA:3385
Igg4-Related Kidney Disease
Lymphadenitis, Sialadenitis, Eosinophilia, Abnormality of the anterior pituitary, Lymphadenopathy ORPHA:449395
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Abnormal fear-induced behavior, Cryptorchidism, Emotional lability, Aggr... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Abnormal fear-induced behavior, Cryptorchidism, Emotional lability, Aggr... ORPHA:353277
Proteasome-Associated Autoinflammatory Syndrome 1
Parotitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Thrombocytopenia OMIM:256040
Blau Syndrome
Anemia, Splenomegaly, Abnormal salivary gland morphology, Lymphadenopathy ORPHA:90340

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 Ano2

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 Ano2.

No publications found that use IMPC mice or data for Ano2.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Ano2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ano2em1(IMPC)Ccpcz Exon Deletion Mice
Ano2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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