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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
decreased thigmotaxis Ano2em1(IMPC)Ccpcz HOM   Early adult 9.71×10-06
hyperactivity Ano2em1(IMPC)Ccpcz HOM   Early adult 6.81×10-07
decreased anxiety-related response Ano2em1(IMPC)Ccpcz HOM Early adult 2.33×10-07
enlarged lymph nodes Ano2em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal lymph node morphology Ano2em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal behavior Ano2em1(IMPC)Ccpcz HOM   Early adult 9.71×10-06
enlarged thymus Ano2em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal thymus morphology Ano2em1(IMPC)Ccpcz HOM Early adult 0.00

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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 Skull Dorso Ventral Orientation

21 Images

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X-ray

XRay Images Whole Body Dorso Ventral

42 Images

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X-ray

XRay Images Hind Leg and Hip

42 Images

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X-ray

XRay Images Skull Lateral Orientation

21 Images

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X-ray

XRay Images Whole Body Lateral Orientation

21 Images

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X-ray

XRay Images Forepaw

21 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
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Mantle Cell Lymphoma
Anorexia, Splenomegaly, Lymphadenopathy ORPHA:52416
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
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy OMIM:616126
Schizophrenia 15
Hyperactivity OMIM:613950
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Pandas
Anorexia, Obsessive-compulsive trait, Irritability, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch... OMIM:619126
Kerion Celsi
Lymphadenopathy ORPHA:499
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Motor stereotypy OMIM:300271
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Anorexia, Splenomegaly, Lymphadenopathy ORPHA:86893
Laryngeal Neuroendocrine Tumor
Anorexia, Adrenocorticotropic hormone excess, Chronic noninfectious lymphadenopathy, Oral-pharyng... ORPHA:100083
Fraxe Intellectual Disability
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... ORPHA:100973
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Hyperactivity, Dysphagia, Impulsivity OMIM:620448
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:619031
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Kimura Disease
Follicular hyperplasia, Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy ORPHA:482
Immunodeficiency 104
Splenomegaly, Lymphadenopathy, T lymphocytopenia OMIM:608971
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Self-injurious behavior, Agitation OMIM:619970
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Abnormal fear-induced behavior, Aggressive behavior ORPHA:208441
Glycine Encephalopathy 1
Irritability, Hyperactivity, Impulsivity, Restlessness, Aggressive behavior OMIM:605899
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder, Emotional lability OMIM:234500
Immunodeficiency 27A
Anorexia, Anemia, Lymphadenopathy, Thrombocytosis, Leukocytosis, Hepatosplenomegaly, Splenomegaly... OMIM:209950
Autoinflammation With Episodic Fever And Lymphadenopathy
Splenomegaly, Microcytic anemia, Lymphadenopathy, Recurrent tonsillitis OMIM:618852
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Nodular goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy ORPHA:97290
Familial Papillary Or Follicular Thyroid Carcinoma
Goiter, Nodular goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy ORPHA:319487
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Hyperactivity, Abnormal aggressive, impul... ORPHA:3077
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Mast Cell Sarcoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr... OMIM:619846
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia OMIM:619164
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:617113
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o... OMIM:619220
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Immunodeficiency 52
Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ... OMIM:617514
Hyperprolinemia, Type I
Hyperactivity, Motor stereotypy, Aggressive behavior OMIM:239500
Pleural Mesothelioma
Lymphadenopathy, Dysphagia ORPHA:50251
8p23.1 deletion syndrome
Hyperactivity, Cryptorchidism DECIPHER:39
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Phonic tics, Compulsive behaviors, Aggressive behavior OMIM:301107
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,... OMIM:212050
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells OMIM:618982
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4-positive helper T cells... OMIM:300853
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Classic Hodgkin Lymphoma
Anorexia, Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy ORPHA:391
Hemophagocytic Lymphohistiocytosis, Familial, 4
Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Neutropenia OMIM:603552
Mu-Heavy Chain Disease
Splenomegaly, Anemia, Lymphadenopathy, Abnormal B cell count ORPHA:100024
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly, Sp... OMIM:618534
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor tics OMIM:619927
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Phenylketonuria
Irritability, Hyperactivity, Depression, Compulsive behaviors, Attention deficit hyperactivity di... OMIM:261600
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Burkitt Lymphoma
Decreased proportion of CD4-positive helper T cells, Abnormal lymph node morphology, Abnormality ... ORPHA:543
Thyroid Lymphoma
Lymphadenopathy, Goiter, Dysphagia ORPHA:97285
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy OMIM:618987
Leishmaniasis
Anorexia, Anemia, Lymphadenopathy, Pancytopenia, Abnormal macrophage morphology, Leukopenia, Sple... ORPHA:507
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Alpha-Heavy Chain Disease
Splenomegaly, Anemia, Lymphadenopathy ORPHA:100025
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
B lymphocytopenia, Lymphopenia, Eosinophilia, Lymph node hypoplasia, Splenomegaly, Aplasia of the... OMIM:602450
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Lymphadenopathy, Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia OMIM:613101
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocytopenia, Monocyt... OMIM:614470
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Medullary Thyroid Carcinoma
Lymphadenopathy, Pheochromocytoma, Primary hyperparathyroidism, Nodular goiter, Dysphagia ORPHA:1332
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia OMIM:608184
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion o... OMIM:615559
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Leukocyte Adhesion Deficiency, Type Iii
Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Extramedu... OMIM:612840
Primary Myelofibrosis
Anorexia, Anemia, Lymphadenopathy, Thrombocytosis, Pancytopenia, Leukocytosis, Poikilocytosis, He... ORPHA:824
Rhabdoid Tumor
Irritability, Thrombocytopenia, Anemia, Lymphadenopathy ORPHA:69077
Aregenerative Anemia
Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Depression, Abnormal proportion of CD8-posit... ORPHA:101096
Anaplastic Thyroid Carcinoma
Lymphadenopathy, Nodular goiter, Goiter, Dysphagia ORPHA:142
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Nail-biting, Hyperactivity, Attention deficit hyperactivity disorder, Sel... OMIM:619827
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Thrombocyto... ORPHA:100026
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behavior, Aggressive behavior ORPHA:101039
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, T lymphocytopenia, Absence of lymph node germinal center, Lymphopenia, Absent ... ORPHA:277
Immunodeficiency 109 With Lymphoproliferation
Absent circulating B cells, Generalized lymphadenopathy, Splenomegaly, Pancytopenia OMIM:620282
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8... OMIM:150550
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Pfapa Syndrome
Splenomegaly, Lymphadenopathy ORPHA:42642
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Lymphadenopathy, Splenomegaly, Abnormal T cell count OMIM:240500
Graves Disease
Hyperactivity, Goiter, Irritability, Polyphagia OMIM:275000
Isolated Anencephaly
Thymus hyperplasia ORPHA:563609
Caspase 8 Deficiency
Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy OMIM:607271
Schnitzler Syndrome
Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly ORPHA:37748
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomegaly, Abnormal m... ORPHA:98848
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegaly, Coombs-posi... OMIM:619375
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly OMIM:611762
Aggressive Systemic Mastocytosis
Anorexia, Anemia, Lymphadenopathy, Increased proportion of CD25+ mast cells, Pancytopenia, Leukoc... ORPHA:98850
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy OMIM:618495
Classic Mycosis Fungoides
Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly ORPHA:2584
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior OMIM:615516
Immunodeficiency, Common Variable, 1
Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Neutro... OMIM:607594
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Iron deficiency anemia, Neutropenia in presence of anti-neutropil an... OMIM:601859
Acute Monoblastic/Monocytic Leukemia
Anorexia, Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia, Cerv... ORPHA:514
Immune Dysregulation, Autoimmunity, And Autoinflammation
Anemia, Cervical lymphadenopathy, Inguinal lymphadenopathy OMIM:620514
Fish-Eye Disease
Splenomegaly, Lymphadenopathy ORPHA:79292
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Lymphadenopathy, Iron deficiency anemia, Neutropenia in presence of ... OMIM:603909
Tularemia
Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Leukocytosis, Thr... ORPHA:3392
Niemann-Pick Disease, Type A
Irritability, Sea-blue histiocytosis, Lymphadenopathy, Bone-marrow foam cells, Splenomegaly, Micr... OMIM:257200
Immunodeficiency 54
Lymphadenopathy, Reduced natural killer cell count, Splenomegaly, Adrenocorticotropic hormone excess OMIM:609981
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Congenital Toxoplasmosis
Thrombocytopenia, Anemia, Lymphadenopathy ORPHA:858
Immunodeficiency 7
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neutropenia OMIM:615387
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal lymph node morphology, Anemia, Abnormality of the lymphatic system, Abnormal testis morp... ORPHA:54251
Activated Pi3K-Delta Syndrome
Lymphadenopathy, B lymphocytopenia, Splenomegaly, Recurrent tonsillitis ORPHA:397596
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Macroorchidism, Impulsivity OMIM:300143
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Frequent temper tantrums, Impulsivity, Motor stereotypy, Attention deficit hyperac... OMIM:620141
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Macroorchidism, Elevated circulating growth hormone concentration, Aggressive beha... ORPHA:85327
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Lymphoproliferative Syndrome 2
Aplastic anemia, Lymphadenopathy, Hemophagocytosis, Pancytopenia, Hepatosplenomegaly, Splenomegaly OMIM:615122
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Lymphadenopathy, Hemophagocytosis, Pancytopenia, Lymphocytosis, Abnormal T cell ... OMIM:308240
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative disorder, Leukocyt... ORPHA:3226
Griscelli Syndrome Type 2
Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia ORPHA:79477
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Abnormal lymph node morphology, Lymphadenopathy, Decreased proportio... ORPHA:911
Cold Agglutinin Disease
Splenomegaly, Lymphadenopathy, Hemolytic anemia ORPHA:56425
Cinca Syndrome
Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Eosinophilia OMIM:607115
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Hemophagocytosis, Decr... OMIM:619802
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of naive T cells, Decreased pr... ORPHA:276
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Anemia, Lymphadenopathy, Hemophagocytosis, Pancytopenia, Decreased p... OMIM:613011
Heme Oxygenase 1 Deficiency
Lymphadenopathy, Asplenia, Coombs-positive hemolytic anemia, Thrombocytosis, Cervical lymphadenop... OMIM:614034
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Ovarian neoplasm,... ORPHA:83469
Acute Promyelocytic Leukemia
Anorexia, Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Addictive alcohol use, Leukopenia,... ORPHA:520
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Irritability, Hyperactivity, Motor stereotypy, Lymphopenia, Aggressive behavior ORPHA:391307
Thymic Neuroendocrine Tumor
Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Neoplasm of the thymus, Chronic nonin... ORPHA:97289
Omenn Syndrome
Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymphocytopenia, T... OMIM:603554
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Splenomegaly, Aggressive behavior OMIM:252920
Porphyria Due To Ala Dehydratase Deficiency
Agitation, Abnormal fear-induced behavior, Depression, Myeloproliferative disorder, Abnormal eryt... ORPHA:100924
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Lymphadenopathy, Hemophagocytosis, B lymphocytopenia, Bone marrow hy... OMIM:301078
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi... ORPHA:169154
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenopathy, Recurrent tonsillitis, Lymphadenitis, Hepatosplenomegaly, Splenomegaly, Lymphope... OMIM:618935
Boutonneuse Fever
Thrombocytopenia, Cervical lymphadenopathy, Leukopenia, Lymphadenopathy ORPHA:83313
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly... OMIM:618986
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Lymphadenopathy ORPHA:2221
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, B lymphocytopenia, Thrombocytopenia, Decreased proportion of memory B cells, Inc... OMIM:618048
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Abnormal temper tantrums, Irritability, Hyperactivity, Depression, Recurrent hand flapping, Motor... ORPHA:449291
Griscelli Syndrome
Lymphadenopathy, Bone marrow hypocellularity, Leukopenia, Splenomegaly, Thrombocytopenia, Abnorma... ORPHA:381
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Pure red cell ... OMIM:613179
Roifman Syndrome
Eosinophilia, Lymphadenopathy, Splenomegaly OMIM:616651
Roifman Syndrome
Eosinophilia, Hepatosplenomegaly, Lymphadenopathy ORPHA:353298
Hemophagocytic Lymphohistiocytosis, Familial, 1
Irritability, Anemia, Lymphadenopathy, Hemophagocytosis, Leukopenia, Splenomegaly, Thrombocytopenia OMIM:267700
Immunodeficiency 91 And Hyperinflammation
Lymphadenopathy, Hemophagocytosis, Neutrophilia, Hepatosplenomegaly, Thrombocytopenia, Monocytosis OMIM:619644
Cyclic Neutropenia
Lymphadenopathy, Recurrent tonsillitis, Decreased eosinophil count, Thrombocytopenia, Lymphopenia... ORPHA:2686
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy OMIM:619750
Hemophagocytic Lymphohistiocytosis, Familial, 2
Irritability, Anemia, Lymphadenopathy, Hemophagocytosis, Pancytopenia, Leukopenia, Hepatosplenome... OMIM:603553
Sézary Syndrome
Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly ORPHA:3162
Nephroblastoma
Lymphadenopathy ORPHA:654
Omenn Syndrome
Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia ORPHA:39041
Carney Triad
Anorexia, Anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Pheochromocytoma ORPHA:139411
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy OMIM:619183
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Lymphadenopathy ORPHA:85414
Legionnaires Disease
Anorexia, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Lymphopenia ORPHA:549
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positi... OMIM:304790
Papa Syndrome
Lymphadenopathy ORPHA:69126
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytopenia OMIM:616100
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior ORPHA:309246
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Cinca Syndrome
Anemia, Lymphadenopathy, Leukocytosis, Abnormal granulocyte morphology, Splenomegaly, Abnormality... ORPHA:1451
Proteus-Like Syndrome
Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland, Splenomegaly ORPHA:2969
Familial Gestational Hyperthyroidism
Hyperactivity, Goiter, Agitation, Thyroid hyperplasia ORPHA:99819
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Hypopituitarism, Increased B cell count, Absent peripheral lymph nodes in presence of infection, ... ORPHA:98813
Tafro Syndrome
Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia ORPHA:457077
Felty Syndrome
Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypocellularity, Thrombocyto... ORPHA:47612
Immunodeficiency 10
Autoimmune hemolytic anemia, Lymphadenopathy, Abnormal lymphocyte count, Splenomegaly, Autoimmune... OMIM:612783
Pancreatoblastoma
Abnormal lymph node morphology, Pancreatic calcification ORPHA:677
Diffuse Cutaneous Mastocytosis
Lymphocytosis, Lymphadenopathy, Myeloproliferative disorder, Abnormality of the spleen ORPHA:79456
Castleman Disease
Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Thrombocytopenia, Decreased mean corpuscula... ORPHA:160
Macrophage Activation Syndrome
Anemia, Lymphadenopathy, Hemophagocytosis, Abnormal natural killer cell count, Thrombocytopenia, ... ORPHA:158061
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Enlarged tons... OMIM:606367
Neuroendocrine Tumor Of The Colon
Anorexia, Chronic noninfectious lymphadenopathy ORPHA:100080
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Goiter, Agitation, Thyroid hyperplasia ORPHA:424
Familial Pancreatic Carcinoma
Anorexia, Lymphadenopathy, Hepatosplenomegaly, Pancreatic adenocarcinoma, Ovarian carcinoma ORPHA:1333
Kaposi Sarcoma
Generalized lymphadenopathy, Abnormality of the spleen ORPHA:33276
Scrub Typhus
Lymphadenopathy, Splenomegaly ORPHA:83317
Kikuchi-Fujimoto Disease
Anorexia, Abnormal lymph node morphology, Lymphadenopathy, Anemia, Lymphocytosis, Enlargement of ... ORPHA:50918
Immunodeficiency, Common Variable, 8, With Autoimmunity
Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche... OMIM:614700
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Lymphadenopathy, Normochromic anemia, Acute myeloid leukemia, Chronic lymphati... ORPHA:98849
American Trypanosomiasis
Lymphadenopathy, Splenomegaly ORPHA:3386
Combined Immunodeficiency Due To Crac Channel Dysfunction
Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hemolytic anemia ORPHA:169090
Lig4 Syndrome
Acute leukemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Cryptorchidism ORPHA:99812
Hereditary Amyloidosis With Primary Renal Involvement
Anemia, Abnormal lymph node morphology, Primary testicular failure, Lymphadenopathy, Abnormal tes... ORPHA:85450
Klatskin Tumor
Lymphadenopathy ORPHA:99978
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence of anti-neutropil antibodie... ORPHA:436159
Waldenström Macroglobulinemia
Anorexia, Normocytic anemia, Lymphadenopathy, Splenomegaly, Abnormality of neutrophils, Leukemia ORPHA:33226
Adult-Onset Still Disease
Anemia, Lymphadenopathy, Leukocytosis, Bone marrow hypocellularity, Neutrophilia, Splenomegaly, G... ORPHA:829
Neuroblastoma
Irritability, Thrombocytopenia, Anemia, Lymphadenopathy ORPHA:635
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Bronchial Neuroendocrine Tumor
Anorexia, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentration ORPHA:97287
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Leukocytosis, Lymphadenopathy, Increased proportion of CD4-positive T cells OMIM:617099
Neuroendocrine Tumor Of The Rectum
Anorexia, Chronic noninfectious lymphadenopathy ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Anorexia, Chronic noninfectious lymphadenopathy ORPHA:100082
Graft Versus Host Disease
Irritability, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis ORPHA:39812
Cutaneous Neuroendocrine Carcinoma
Lymphoid leukemia, Chronic noninfectious lymphadenopathy ORPHA:79140
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Anemia, Abnormal natural killer cell count, Pancytopenia, Abnormal lymphocyte count, Decreased pr... ORPHA:79124
Mevalonic Aciduria
Fluctuating splenomegaly, Anemia, Lymphadenopathy, Leukocytosis, Normocytic hypoplastic anemia, H... OMIM:610377
Familial Hemophagocytic Lymphohistiocytosis
Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Neutropenia ORPHA:540
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Chediak-Higashi Syndrome
Anemia, Lymphadenopathy, Hemophagocytosis, Leukopenia, Splenomegaly, Impaired neutrophil bacteric... OMIM:214500
Immunodeficiency With Hyper-Igm, Type 1
Enlarged tonsils, Thrombocytopenia, Splenomegaly, Absence of lymph node germinal center, Hemolyti... OMIM:308230
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Agitation, Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Bone marrow hypocellularity, Hepa... OMIM:615688
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Lymphopenia OMIM:617591
Gallbladder Neuroendocrine Tumor
Anorexia, Chronic noninfectious lymphadenopathy ORPHA:100086
Hyperthyroidism, Nonautoimmune
Hyperactivity, Goiter, Thyroid hyperplasia OMIM:609152
Pituitary Adenoma 4, Acth-Secreting
Emotional lability, Pituitary adenoma, Abnormal fear-induced behavior OMIM:219090
Hypocomplementemic Urticarial Vasculitis
Lymphadenopathy, Splenomegaly ORPHA:36412
Mixed Connective Tissue Disease
Mediastinal lymphadenopathy, Lymphadenopathy, Leukopenia, Splenomegaly, Hemolytic anemia ORPHA:809
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres... OMIM:600802
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Paratracheal lymphadenopathy, Leukopenia, Lymphopenia, Thrombocytosis, Follicular hyperpl... OMIM:615934
Hyper-Igd Syndrome
Lymphadenopathy, Lymphadenitis, Leukocytosis, Neutrophilia, Hepatosplenomegaly, Splenomegaly OMIM:260920
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy ORPHA:343
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Granulomatosis OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Granulomatosis OMIM:233710
Lymphatic Filariasis
Lymphangiectasis, Lymphadenopathy, Abnormality of the lymphatic system, Lymphadenitis, Orchitis, ... ORPHA:2035
Immunodeficiency 55
Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia OMIM:617827
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Anemia, Lymphadenopathy, Lymphadenitis, Leukocytosis, Splenomegaly OMIM:615895
Acute Generalized Exanthematous Pustulosis
Lymphadenopathy, Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia ORPHA:293173
Agammaglobulinemia, X-Linked
Anemia, B lymphocytopenia, T lymphocytopenia, Lymph node hypoplasia, Neutropenia OMIM:300755
Q Fever
Anorexia, Anemia, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia ORPHA:781
Acute Interstitial Pneumonia
Reduced hematocrit, Lymphadenopathy ORPHA:79126
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy, Lymphopenia, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia ORPHA:93552
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Granulomatosis OMIM:233690
Malt Lymphoma
Anemia, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:52417
T-Cell Immunodeficiency With Thymic Aplasia
Lymphadenopathy, Decreased proportion of naive T cells, T lymphocytopenia, Coombs-positive hemoly... ORPHA:83471
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphocytosis, Eosinophilia, Lymphadenopathy ORPHA:139402
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Thrombocytopenia, Cervical lympha... OMIM:617718
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Primary Hepatic Neuroendocrine Carcinoma
Anorexia, Chronic noninfectious lymphadenopathy ORPHA:100085
Common Variable Immunodeficiency
Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytopenia, Hemolytic anemia ORPHA:1572
Neuroendocrine Tumor Of Stomach
Anorexia, Iron deficiency anemia, Chronic noninfectious lymphadenopathy ORPHA:100075
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Lymphocytosis, Neutropenia in presence of anti-neut... ORPHA:3261
Poems Syndrome
Lymphadenopathy, Polycythemia, Splenomegaly, Increased circulating prolactin concentration, Throm... ORPHA:2905
Systemic Lupus Erythematosus
Anorexia, Lymphadenopathy, Depression, Thrombocytopenia, Leukopenia, Hemolytic anemia ORPHA:536
Farber Disease
Anemia, Thrombocytopenia, Hepatosplenomegaly, Lymphadenopathy ORPHA:333
Chédiak-Higashi Syndrome
Anemia, Lymphadenopathy, Hemophagocytosis, Pancytopenia, Abnormal natural killer cell morphology,... ORPHA:167
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Lymphadenopathy, Pancreatic hypoplasia, He... OMIM:602782
H Syndrome
Lymphadenopathy, Decreased testicular size, Hepatosplenomegaly, Histiocytosis, Microcytic anemia ORPHA:168569
Selective Igm Deficiency
Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi... ORPHA:331235
Familial Mediterranean Fever
Lymphadenopathy, Depression, Leukocytosis, Orchitis, Splenomegaly ORPHA:342
Granulomatous Disease, Chronic, X-Linked
Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Granulomatosis OMIM:306400
Brucellosis
Anorexia, Anemia, Lymphadenopathy, Depression, Leukocytosis, Leukopenia, Splenomegaly, Thrombocyt... ORPHA:1304
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Iron deficiency anemia, Reduced proportion of CD4-n... ORPHA:37042
Histidinemia
Hyperactivity ORPHA:2157
Immunodeficiency 31C
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Lymphade... OMIM:614162
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphadenopathy, T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Neutropenia OMIM:607944
Neuroendocrine Neoplasm Of Appendix
Anorexia, Ovarian neoplasm, Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone ex... ORPHA:100079
Congenital Syphilis
Anemia, Lymphadenopathy, Thrombocytopenia, Hepatosplenomegaly, Extramedullary hematopoiesis ORPHA:499009
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Abnormal salivary gland morphology, Lymphadenopathy, Abnormal pancreas ... ORPHA:449432
Tangier Disease
Anemia, Chronic noninfectious lymphadenopathy, Orange discolored tonsils, Thrombocytopenia, Hepat... ORPHA:31150
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Anemia, Lymphadenopathy, Accessory spleen, Splenomegaly, Polysplenia OMIM:619418
Idiopathic Hypereosinophilic Syndrome
Anemia, Thrombocytosis, Myeloproliferative disorder, Leukocytosis, Neutrophilia, Hepatosplenomega... ORPHA:3260
Immunodeficiency 82 With Systemic Inflammation
Anorexia, Anemia, Lymphadenopathy, B lymphocytopenia, Decreased proportion of naive T cells, T ly... OMIM:619381
Multiple Myeloma
Lymphadenopathy, Anemia, Splenomegaly ORPHA:29073
Sarcoidosis, Susceptibility To, 1
Anorexia, Enlarged lacrimal glands, Abnormal salivary gland morphology, Mediastinal lymphadenopat... OMIM:181000
Cherubism
Submandibular lymph node enlargement OMIM:118400
Behçet Disease
Anorexia, Irritability, Lymphadenopathy, Orchitis, Splenomegaly ORPHA:117
Crimean-Congo Hemorrhagic Fever
Anorexia, Agitation, Lymphadenopathy, Pancytopenia, Emotional lability, Parotitis, Leukocytosis, ... ORPHA:99827
Cushing Syndrome Due To Ectopic Acth Secretion
Anorexia, Abnormal lymph node morphology, Pancreatic adenocarcinoma, Depression, Pheochromocytoma... ORPHA:99889
Chikungunya
Depression, Cervical lymphadenopathy, Lymphadenopathy ORPHA:324625
Hennekam Syndrome
Lymphadenopathy, Lymphangioma, Splenomegaly, Pulmonary lymphangiectasia, Lymphopenia ORPHA:2136
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Anemia, Hepatosplenomegaly, Lymphadenopathy ORPHA:85408
Marburg Hemorrhagic Fever
Anorexia, Lymphadenopathy, Neutrophilia in presence of infection, Abnormal lymphocyte morphology,... ORPHA:99826
Primary Sjögren Syndrome
Normocytic anemia, Lymphadenopathy, Normochromic anemia, Depression, Parotitis, Decreased proport... ORPHA:289390
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Lymphadenopathy, Orchitis, Leukocytosis, Splenomegaly ORPHA:32960
Lymphangioleiomyomatosis
Abnormality of the lymphatic system, Pulmonary lymphangiomyomatosis, Lymphadenopathy ORPHA:538
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear-induced behavior, Hyperactivity, Emotional lability, Compulsive behaviors, Impulsiv... ORPHA:353281
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Abnormal salivary gland morphology, Lymphadenopathy, Abnormality of the... ORPHA:79078
Coccidioidomycosis
Eosinophilia, Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the spleen ORPHA:228123
Ileal Neuroendocrine Tumor
Iron deficiency anemia, Lymphadenopathy ORPHA:100078
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Sarcoidosis
Enlarged lacrimal glands, Abnormal lymph node morphology, Lymphadenopathy, Anemia, Parotitis, Inc... ORPHA:797
Leptospirosis
Anorexia, Thrombocytopenia, Lymphadenopathy ORPHA:509
Proteus Syndrome
Ovarian neoplasm, Testicular neoplasm, Neoplasm of the thymus, Enlarged polycystic ovaries, Lymph... ORPHA:744
Plague
Anorexia, Depression, Lymphadenitis, Splenomegaly, Enlarged mesenteric lymph node ORPHA:707
Autosomal Recessive Malignant Osteopetrosis
Lymphadenopathy, Anemia, Splenomegaly ORPHA:667
Igg4-Related Ophthalmic Disease
Enlarged lacrimal glands, Abnormality of the anterior pituitary, Lymphadenopathy, Sialadenitis, O... ORPHA:449563
African Trypanosomiasis
Irritability, Lymphadenopathy, Abnormal prolactin level, Hepatosplenomegaly, Splenomegaly, Aggres... ORPHA:3385
Igg4-Related Kidney Disease
Abnormality of the anterior pituitary, Lymphadenopathy, Sialadenitis, Lymphadenitis, Eosinophilia ORPHA:449395
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal fear-induced behavior, Hyperactivity, Emotional lability, Compulsive behaviors, Impulsiv... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal fear-induced behavior, Hyperactivity, Emotional lability, Compulsive behaviors, Impulsiv... ORPHA:353277
Proteasome-Associated Autoinflammatory Syndrome 1
Lymphadenopathy, Parotitis, Thrombocytopenia, Splenomegaly, Microcytic anemia OMIM:256040
Blau Syndrome
Lymphadenopathy, Abnormal salivary gland morphology, Anemia, Splenomegaly 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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