banner
Genes Phenotypes Help, News, Blog

Gene: Or1e32 MGI:3030226

Log in to follow

Gene Summary

Name:
olfactory receptor family 1 subfamily E member 32
Synonyms:
GA_x6K02T2P1NL-3966976-3966038,  MOR135-9,  Olfr392

Order Alleles

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 Or1e32em1(IMPC)Mbp HOM Late adult 0.00
enlarged lymph nodes Or1e32em1(IMPC)Mbp HOM Late adult 0.00
abnormal skin morphology Or1e32em1(IMPC)Mbp HOM Late adult 0.00
abnormal cecum morphology Or1e32em1(IMPC)Mbp HOM Early adult 0.00
abnormal eye morphology Or1e32em1(IMPC)Mbp HOM Late adult 0.00
abnormal cholesterol homeostasis Or1e32em1(IMPC)Mbp HOM Late adult 2.74×10-05
abnormal adrenal gland morphology Or1e32em1(IMPC)Mbp HOM Late adult 0.00
anophthalmia Or1e32em1(IMPC)Mbp HOM Late adult 0.00
enlarged cecum Or1e32em1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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 Whole Body Dorso Ventral

60 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

20 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images

Human diseases caused by Or1e32 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 Or1e32 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Lynch Syndrome 1
Colon cancer OMIM:120435
Lynch Syndrome 2
Colon cancer OMIM:609310
Colorectal Cancer, Susceptibility To, 3
Colon cancer OMIM:612229
Colorectal Cancer, Hereditary Nonpolyposis, Type 6
Hereditary nonpolyposis colorectal carcinoma OMIM:614331
Colorectal Cancer, Hereditary Nonpolyposis, Type 7
Hereditary nonpolyposis colorectal carcinoma OMIM:614385
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Familial Adenomatous Polyposis 2
Colon cancer, Adenomatous colonic polyposis OMIM:608456
Axin2-Related Attenuated Familial Adenomatous Polyposis
Colon cancer, Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis ORPHA:401911
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
Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy OMIM:616126
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Polyposis Syndrome, Hereditary Mixed, 2
Colon cancer, Hyperplastic colonic polyposis, Juvenile colonic polyposis, Adenomatous colonic pol... OMIM:610069
Anal Canal Carcinoma
Anal canal squamous carcinoma OMIM:105580
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Microphthalmia/Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis ORPHA:2978
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Abnorm... ORPHA:2198
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Colon cancer, Adenomatous colonic polyposis OMIM:246470
Microphthalmia, Syndromic 12
Anophthalmia, Cryptorchidism, Microphthalmia OMIM:615524
Kerion Celsi
Lymphadenopathy ORPHA:499
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse OMIM:176780
Familial Papillary Or Follicular Thyroid Carcinoma
Follicular thyroid carcinoma, Abnormal lymph node morphology, Goiter, Chronic noninfectious lymph... ORPHA:319487
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:619126
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Goiter, Chronic noninfectious lymphadenopathy, Papillary thyroid ... ORPHA:97290
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Adrenogenital syndrome, Adrenal hyperplasia, Decreased circulating renin level OMIM:103900
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Laryngeal Neuroendocrine Tumor
Increased serum serotonin, Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Adreno... ORPHA:100083
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Kimura Disease
Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Hirschsprung Disease, Susceptibility To, 3
Aganglionic megacolon, Total colonic aganglionosis, Long-segment aganglionic megacolon OMIM:613711
Oculocerebrocutaneous Syndrome
Anophthalmia, Cryptorchidism, Microphthalmia OMIM:164180
Hirschsprung Disease, Susceptibility To, 2
Aganglionic megacolon OMIM:600155
Hirschsprung Disease, Susceptibility To, 5
Aganglionic megacolon OMIM:600156
Hirschsprung Disease, Susceptibility To, 4
Aganglionic megacolon OMIM:613712
Intussusception
Intussusception OMIM:147710
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circulating co... ORPHA:3453
Lynch Syndrome 8
Hereditary nonpolyposis colorectal carcinoma, Colon cancer, Adenomatous colonic polyposis OMIM:613244
Microphthalmia, Isolated 8
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:615113
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Esophagitis, Pancolitis, Ileitis, Abnormal intestine morphology, Gast... OMIM:619079
Matthew-Wood Syndrome
Annular pancreas, Anophthalmia, Cryptorchidism, Abnormal spleen morphology, Microphthalmia, Aplas... ORPHA:2470
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Elevated circulating 21-deoxycortisol concentration, Adrenogenital syndrome, Adrenal hyperplasia OMIM:201910
Immunodeficiency 104
Splenomegaly, Lymphadenopathy OMIM:608971
Familial Hyperaldosteronism Type Ii
Abnormal circulating renin, Secretory adrenocortical adenoma, Adrenal hyperplasia, Glucocortocoid... ORPHA:404
Familial Hyperaldosteronism Type I
Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldosteronism, Secretory adre... ORPHA:403
Anencephaly 2
Anophthalmia OMIM:619452
Meckel Syndrome, Type 8
Anophthalmia, Microphthalmia OMIM:613885
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Decreased circulating ACTH concentration, Macronodular adre... OMIM:219080
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Thymic Neuroendocrine Tumor
Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increa... ORPHA:97289
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Splenomegaly, Lymphadenopathy OMIM:618852
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intestinal polyposis, Intussusception OMIM:175510
Mast Cell Sarcoma
Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy ORPHA:66661
Pigmented Nodular Adrenocortical Disease, Primary, 4
Primary hypercortisolism, Diabetes mellitus, Increased circulating cortisol level, Adrenal hyperp... OMIM:615830
Colorectal Cancer, Susceptibility To, 10
Hereditary nonpolyposis colorectal carcinoma, Colorectal polyposis OMIM:612591
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Splenomegaly, Lymphadenopathy ORPHA:444463
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Ovarian cyst, De... ORPHA:90793
Trisomy 13
Aplasia/Hypoplasia of the iris, Anophthalmia, Cryptorchidism, Microphthalmia ORPHA:3378
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:86893
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy ORPHA:545
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Anophthalmia, Cryptorchidism, Microphthalmia, Optic nerve hypoplasia OMIM:610125
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenogenital syndrome, Adrenal hyperplasia OMIM:202110
Solitary Median Maxillary Central Incisor
Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Anophthalmia, Mi... OMIM:147250
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Microphthalmia With Brain And Digit Anomalies
Abnormality of the hypothalamus-pituitary axis, Anophthalmia, Cryptorchidism, Microphthalmia ORPHA:139471
Hemophagocytic Lymphohistiocytosis, Familial, 4
Splenomegaly, Lymphadenopathy, Hypertriglyceridemia OMIM:603552
Duodenal Atresia
Duodenal atresia OMIM:223400
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Stercoral ulcer, Abnormal gastric muc... ORPHA:263665
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy OMIM:613101
Burkitt Lymphoma
Abnormality of the ovary, Abnormality of the spleen, Abnormal lymph node morphology ORPHA:543
Familial Hyperaldosteronism Type Iii
Abnormal circulating renin, Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldoster... ORPHA:251274
Thyroid Lymphoma
Goiter, Hashimoto thyroiditis, Hypothyroidism, Lymphadenopathy, Hyperthyroidism ORPHA:97285
Hyperaldosteronism, Familial, Type Iii
Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level OMIM:613677
Hydrolethalus
Anophthalmia, Cryptorchidism, Microphthalmia ORPHA:2189
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Macronodular adrenal ... OMIM:615954
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Immunodeficiency 54
Adrenocorticotropic hormone excess, Splenomegaly, Adrenal insufficiency, Lymphadenopathy OMIM:609981
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy OMIM:615513
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Lymphadenopathy OMIM:619220
Anophthalmia Plus Syndrome
Anophthalmia ORPHA:1104
Immunodeficiency 109 With Lymphoproliferation
Generalized lymphadenopathy, Splenomegaly, Hypertriglyceridemia OMIM:620282
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy OMIM:618982
Congenital Toxoplasmosis
Lymphadenopathy, Microphthalmia ORPHA:858
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Cryptorchidism, Microphthalmia ORPHA:77298
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Immunodeficiency 76
Splenomegaly, Lymphadenopathy OMIM:619164
Alpha-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100025
Medullary Thyroid Carcinoma
Elevated circulating calcitonin concentration, Pheochromocytoma, Medullary thyroid carcinoma, Lym... ORPHA:1332
Mu-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100024
Cockayne Syndrome Type 2
Male hypogonadism, Anophthalmia, Cryptorchidism ORPHA:90322
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Congenital adren... ORPHA:90791
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Meconium Ileus
Microcolon, Meconium ileus OMIM:614665
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
Microphthalmia With Limb Anomalies
Unilateral cryptorchidism, Anophthalmia, Microphthalmia OMIM:206920
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy OMIM:300853
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hyperaldosteronism, Abnormal circulating renin, Adrenal hyperplasia ORPHA:369929
Primary Unilateral Adrenal Hyperplasia
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... ORPHA:231580
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina... ORPHA:189427
Immunodeficiency 64 With Lymphoproliferation
Cervical lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Mediastinal lymphade... OMIM:618534
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatosplenomegaly, Splenomegaly, Follicular hyperplasia, Generalized lymphadenopathy, Lymphadeno... OMIM:615559
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Follicular hyperplasia, Lymphadenopathy OMIM:619846
Walker-Warburg Syndrome
Anophthalmia, Cryptorchidism, Microphthalmia ORPHA:899
Trisomy 1Q
Anophthalmia, Cryptorchidism ORPHA:261344
Microphthalmia, Syndromic 9
Multilobulated spleen, Bilateral microphthalmos, Cryptorchidism, Anophthalmia, Hypoplastic spleen OMIM:601186
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Generalized lymphadenopathy, Absent t... OMIM:602450
Immunodeficiency, Common Variable, 2
Splenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:240500
Pfapa Syndrome
Splenomegaly, Lymphadenopathy ORPHA:42642
Middle Ear Neuroendocrine Tumor
Neuroendocrine neoplasm, Carcinoid tumor, Chronic noninfectious lymphadenopathy ORPHA:100084
Immunodeficiency 27A
Enlarged mesenteric lymph node, Hepatosplenomegaly, Lymphadenopathy, Splenomegaly OMIM:209950
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Caspase 8 Deficiency
Splenomegaly, Lymphadenopathy OMIM:607271
Anaplastic Thyroid Carcinoma
Nodular goiter, Anaplastic thyroid carcinoma, Lymphadenopathy, Goiter ORPHA:142
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Abnormal circulating androgen level, Increased circulating ... ORPHA:90790
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy OMIM:212050
Maternal Uniparental Disomy Of Chromosome 6
Congenital adrenal hyperplasia, Hydrocele testis, Increased serum testosterone level ORPHA:96181
Griscelli Syndrome Type 2
Hyperlipidemia, Splenomegaly, Lymphadenopathy ORPHA:79477
Leukocyte Adhesion Deficiency, Type Iii
Hepatosplenomegaly, Splenomegaly, Abnormal lymph node morphology OMIM:612840
Nephroblastoma
Aniridia, Lymphadenopathy ORPHA:654
Immunodeficiency 52
Splenomegaly, Lymphadenopathy OMIM:617514
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia, Cryptorchidism, Adrenal hypoplasia, Anterior pituitary hypopla... ORPHA:264200
Classic Mycosis Fungoides
Splenomegaly, Lymphadenopathy ORPHA:2584
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Precocious puberty in males, Congenital adrenal hyperplasia, Decreased testicular size, Increased... OMIM:202010
Pleural Mesothelioma
Lymphadenopathy ORPHA:50251
Fish-Eye Disease
Splenomegaly, Lymphadenopathy ORPHA:79292
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Lymphadenopathy, Thyroiditis OMIM:619375
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Elevated circulating luteinizing hormo... ORPHA:95699
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, Absence of lymph node germinal center ORPHA:277
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Adrenal insufficiency, Impaired cortis... OMIM:201810
Activated Pi3K-Delta Syndrome
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy ORPHA:397596
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Lymphadenopathy OMIM:611762
Tularemia
Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Mediastinal lymphadenopathy... ORPHA:3392
Schnitzler Syndrome
Splenomegaly, Lymphadenopathy ORPHA:37748
Holoprosencephaly
Panhypopituitarism, Abnormality of the spleen, Anophthalmia, Cryptorchidism, Microphthalmia, Diab... ORPHA:2162
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Cryptorchidism, Hypogonadotropic hypogonadism, Anterior pituit... OMIM:206900
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:391
Desmoplastic Small Round Cell Tumor
Lymphadenopathy, Testicular neoplasm, Ovarian neoplasm, Mediastinal lymphadenopathy, Neoplasm of ... ORPHA:83469
Meckel Syndrome
Accessory spleen, Aplasia/Hypoplasia of the iris, Anophthalmia, Cryptorchidism, Pancreatic fibros... ORPHA:564
Immune Dysregulation, Autoimmunity, And Autoinflammation
Cervical lymphadenopathy, Inguinal lymphadenopathy OMIM:620514
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal lymph node morphology, Abnormality of the lymphatic system, Abnormal testis morphology ORPHA:54251
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Radiation Proctitis
Hematochezia, Abnormal rectum morphology, Intestinal obstruction, Rectal fistula, Abnormal gastro... ORPHA:70475
Immunodeficiency 105
Hepatosplenomegaly, Absence of lymph node germinal center OMIM:619924
Cockayne Syndrome Type 1
Male hypogonadism, Anophthalmia, Cryptorchidism ORPHA:90321
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Anophthalmia, Microphthalmia OMIM:615877
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Splenomegaly, Lymphadenopathy OMIM:618495
Indolent Systemic Mastocytosis
Splenomegaly, Lymphadenopathy ORPHA:98848
Carcinoid Syndrome
Increased serum serotonin, Chronic noninfectious lymphadenopathy, Atypical pulmonary carcinoid tu... ORPHA:100093
Papa Syndrome
Type I diabetes mellitus, Lymphadenopathy ORPHA:69126
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Lymphadenopathy OMIM:150550
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Hypothyroidism, Lymphadenopathy OMIM:619750
Roifman Syndrome
Hypogonadotropic hypogonadism, Hepatosplenomegaly, Lymphadenopathy ORPHA:353298
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Lymphadenopathy ORPHA:2221
Immunodeficiency, Common Variable, 1
Splenomegaly, Lymphadenopathy OMIM:607594
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypogonadism, Anophthalmia, Cryptorchidism, Microphthalmia ORPHA:2250
Cold Agglutinin Disease
Splenomegaly, Lymphadenopathy ORPHA:56425
Vacterl With Hydrocephalus
Anophthalmia, Cryptorchidism, Microphthalmia ORPHA:3412
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Aniridia, Anophthalmia, Cryptorchidism ORPHA:1101
Tetraamelia Syndrome 1
Asplenia, Adrenal gland agenesis, Microphthalmia OMIM:273395
Microgastria-Limb Reduction Defect Syndrome
Abnormality of the spleen, Anophthalmia, Microphthalmia ORPHA:2538
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Follicular hyperplasia OMIM:614470
Lymphoproliferative Syndrome 2
Splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:615122
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Cushing Syndrome Due To Ectopic Acth Secretion
Pulmonary carcinoid tumor, Neuroendocrine neoplasm, Increased circulating cortisol level, Abnorma... ORPHA:99889
Heme Oxygenase 1 Deficiency
Cervical lymphadenopathy, Asplenia, Lymphadenopathy OMIM:614034
Immunodeficiency 7
Splenomegaly, Lymphadenopathy OMIM:615387
Roifman Syndrome
Splenomegaly, Lymphadenopathy OMIM:616651
Carney Triad
Adrenal overactivity, Adrenocortical adenoma, Pheochromocytoma, Lymphadenopathy, Mediastinal lymp... ORPHA:139411
Cinca Syndrome
Hepatosplenomegaly, Lymphadenopathy OMIM:607115
Combined Immunodeficiency Due To Zap70 Deficiency
Hepatosplenomegaly, Lymphadenitis, Lymphadenopathy, Abnormal lymph node morphology ORPHA:911
Joubert Syndrome 21
Splenomegaly, Anophthalmia OMIM:615636
Rhabdoid Tumor
Lymphadenopathy ORPHA:69077
Fibular Hemimelia
Anophthalmia ORPHA:93323
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:3226
Autoimmune Lymphoproliferative Syndrome, Type Iia
Splenomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Lymphadenopathy OMIM:603909
Hydrolethalus Syndrome 1
Accessory spleen, Adrenal gland dysgenesis, Microphthalmia OMIM:236680
Omenn Syndrome
Splenomegaly, Hypothyroidism, Lymphadenopathy, Thyroiditis ORPHA:39041
Boutonneuse Fever
Cervical lymphadenopathy, Lymphadenopathy ORPHA:83313
Leishmaniasis
Splenomegaly, Lymphadenopathy ORPHA:507
Pancreatoblastoma
Pancreatic calcification, Abnormal lymph node morphology ORPHA:677
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymph node hypoplasia ORPHA:276
Autoimmune Lymphoproliferative Syndrome
Splenomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia OMIM:601859
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Adrenal gland agenesis OMIM:611812
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Lymphadenitis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy OMIM:618935
Immunodeficiency 97 With Autoinflammation
Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Hypertriglyceridemia, Mediastinal lymphadenopathy OMIM:619802
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Lymphadenopathy ORPHA:85414
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Hypopituitarism, Absent peripheral lymph nodes in presence of infection ORPHA:98813
Immunodeficiency 10
Splenomegaly, Lymphadenopathy, Hypoplasia of the iris OMIM:612783
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Lymphadenopathy, Hypoplasia of the iris ORPHA:169090
Hereditary Amyloidosis With Primary Renal Involvement
Abnormal lymph node morphology, Hypogonadism, Hepatosplenomegaly, Lymphadenopathy, Abnormal testi... ORPHA:85450
Holoprosencephaly 9
Anterior pituitary agenesis, Decreased response to growth hormone stimulation test, Panhypopituit... OMIM:610829
Cerebrooculonasal Syndrome
Anophthalmia, Optic nerve hypoplasia OMIM:605627
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Sézary Syndrome
Splenomegaly, Lymphadenopathy ORPHA:3162
Niemann-Pick Disease, Type A
Splenomegaly, Lymphadenopathy OMIM:257200
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Griscelli Syndrome
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:381
Cutaneous Neuroendocrine Carcinoma
Merkel cell skin cancer, Carcinoid tumor, Chronic noninfectious lymphadenopathy ORPHA:79140
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Lymphadenopathy OMIM:619644
Lymphoproliferative Syndrome, X-Linked, 1
Splenomegaly, Lymphadenopathy OMIM:308240
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Type I diabetes mellitus, Lymphadenopathy, Splenomegaly OMIM:301078
Bronchial Neuroendocrine Tumor
Increased serum serotonin, Increased circulating cortisol level, Increased circulating ACTH level... ORPHA:97287
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Type I diabetes mellitus, Hepatosplenomegaly, Hypothyroidism, Lymphadenopathy, Enlarged tonsils, ... OMIM:606367
Primary Myelofibrosis
Splenomegaly, Hepatosplenomegaly, Lymphadenopathy ORPHA:824
Poems Syndrome
Increased circulating prolactin concentration, Hypogonadism, Primary adrenal insufficiency, Splen... ORPHA:2905
Fraser Syndrome 1
Abnormal thymus morphology, Cryptorchidism, Anophthalmia, Bilateral microphthalmos OMIM:219000
Lig4 Syndrome
Hypothyroidism, Type II diabetes mellitus, Cryptorchidism, Lymphadenopathy ORPHA:99812
Cushing Disease
Increased circulating cortisol level, Increased urinary cortisol level, Increased circulating ACT... ORPHA:96253
Scrub Typhus
Splenomegaly, Lymphadenopathy ORPHA:83317
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy OMIM:618048
Charge Syndrome
Anophthalmia, Cryptorchidism, Hypogonadotropic hypogonadism, Abnormality of the adrenal glands, D... ORPHA:138
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Lymphadenopathy OMIM:619183
Tafro Syndrome
Splenomegaly, Hepatosplenomegaly, Elevated vascular endothelial growth factor level, Lymphadenopathy ORPHA:457077
Cyclic Neutropenia
Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy ORPHA:2686
Charge Syndrome
Parathyroid hypoplasia, Aplasia/Hypoplasia of the thymus, Decreased response to growth hormone st... OMIM:214800
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Microphthalmia ORPHA:2526
American Trypanosomiasis
Splenomegaly, Lymphadenopathy ORPHA:3386
Immunodeficiency, Common Variable, 8, With Autoimmunity
Type I diabetes mellitus, Splenomegaly, Hypothyroidism, Generalized lymphadenopathy, Lymphadenopa... OMIM:614700
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Type I diabetes mellitus, Hypothyroidism, Lymphadenopathy OMIM:304790
Purine Nucleoside Phosphorylase Deficiency
Lymph node hypoplasia, Splenomegaly OMIM:613179
Microphthalmia With Linear Skin Defects Syndrome
Anophthalmia, Abnormal testis morphology, Microphthalmia ORPHA:2556
Macrophage Activation Syndrome
Splenomegaly, Lymphadenopathy, Hypertriglyceridemia ORPHA:158061
Microphthalmia, Syndromic 2
Adrenal insufficiency, Anophthalmia, Cryptorchidism, Hypothyroidism, Microphthalmia OMIM:300166
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Splenomegaly, Type I diabetes mellitus, Lymphadenopathy, Thyroiditis ORPHA:436159
Omenn Syndrome
Hypoplasia of the thymus, Splenomegaly, Lymphadenopathy OMIM:603554
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Lymphadenopathy, Hypersplenism ORPHA:98850
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Lymphadenopathy ORPHA:79456
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Splenomegaly, Lymphadenopathy OMIM:616100
Microphthalmia, Syndromic 6
Anterior hypopituitarism, Anophthalmia, Cryptorchidism, Hypothyroidism, Adrenal hypoplasia, Micro... OMIM:607932
Castleman Disease
Generalized lymphadenopathy, Mediastinal lymphadenopathy, Follicular hyperplasia, Lymphadenopathy ORPHA:160
Cinca Syndrome
Splenomegaly, Lymphadenopathy ORPHA:1451
Familial Hemophagocytic Lymphohistiocytosis
Splenomegaly, Lymphadenopathy, Hypertriglyceridemia ORPHA:540
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Felty Syndrome
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:47612
Lymphoproliferative Syndrome 1
Splenomegaly, Lymphadenopathy OMIM:613011
Hypocomplementemic Urticarial Vasculitis
Splenomegaly, Lymphadenopathy ORPHA:36412
Neuroendocrine Tumor Of The Colon
Increased serum serotonin, Carcinoid tumor, Chronic noninfectious lymphadenopathy, Atypical pulmo... ORPHA:100080
Hemophagocytic Lymphohistiocytosis, Familial, 1
Splenomegaly, Lymphadenopathy, Hypertriglyceridemia OMIM:267700
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Lymphadenopathy, Hypertriglyceridemia OMIM:617591
Klatskin Tumor
Lymphadenopathy ORPHA:99978
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Hepatosplenomegaly, Lymphadenopathy ORPHA:169154
Hemophagocytic Lymphohistiocytosis, Familial, 2
Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, Hypertriglyceridemia OMIM:603553
H Syndrome
Hypogonadism, Decreased testicular size, Hepatosplenomegaly, Delayed puberty, Lymphadenopathy, Hy... ORPHA:168569
Gamma-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100026
Focal Dermal Hypoplasia
Supernumerary nipple, Aniridia, Anophthalmia, Cryptorchidism, Hypoplastic nipples, Microphthalmia OMIM:305600
Acute Monoblastic/Monocytic Leukemia
Cervical lymphadenopathy, Central hypothyroidism ORPHA:514
Lymphatic Filariasis
Lymphadenitis, Orchitis, Abnormality of the lymphatic system, Vaginal hydrocele, Lymphadenopathy,... ORPHA:2035
Fg Syndrome Type 1
Abnormal large intestine morphology, Gastroesophageal reflux, Anal atresia, High palate, Malrotat... ORPHA:93932
Malt Lymphoma
Abnormality of the thyroid gland, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:52417
Adult-Onset Still Disease
Bone marrow hypocellularity, Generalized lymphadenopathy, Lymphadenopathy, Splenomegaly ORPHA:829
Legionnaires Disease
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:549
Proboscis Lateralis
Optic nerve hypoplasia, Anophthalmia, Microphthalmia ORPHA:141099
Systemic Sclerosis
Barrett esophagus, Intestinal bleeding, Abnormal large intestine morphology, Gastroesophageal ref... ORPHA:90291
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy ORPHA:343
Mixed Connective Tissue Disease
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:809
Microphthalmia With Limb Anomalies
True anophthalmia, Cryptorchidism, Microphthalmia ORPHA:1106
Immunodeficiency With Hyper-Igm, Type 1
Enlarged tonsils, Splenomegaly, Absence of lymph node germinal center OMIM:308230
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphadenopathy, Thyroiditis ORPHA:139402
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Hepatosplenomegaly, Ovarian carcinoma, Lymphadenopathy, Diabetes mellitus ORPHA:1333
Branchiooculofacial Syndrome
Supernumerary nipple, Ectopic thymus tissue, Anophthalmia, Cryptorchidism, Microphthalmia OMIM:113620
Mevalonic Aciduria
Fluctuating splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:610377
Neuroendocrine Tumor Of The Rectum
Increased serum serotonin, Carcinoid tumor, Chronic noninfectious lymphadenopathy, Atypical pulmo... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Increased serum serotonin, Carcinoid tumor, Chronic noninfectious lymphadenopathy, Atypical pulmo... ORPHA:100082
Histiocytosis-Lymphadenopathy Plus Syndrome
Type I diabetes mellitus, Pancreatic hypoplasia, Decreased response to growth hormone stimulation... OMIM:602782
Tangier Disease
Hypocholesterolemia, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Orange discolored... ORPHA:31150
Acute Interstitial Pneumonia
Lymphadenopathy ORPHA:79126
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:615895
Fraser Syndrome
Anophthalmia, Cryptorchidism, Microphthalmia ORPHA:2052
Chediak-Higashi Syndrome
Macular hypoplasia, Lymphadenopathy, Splenomegaly OMIM:214500
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hypothyroidism, Lymphadenopathy, Thyroiditis ORPHA:83471
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Inappropriate antidiuretic hormone secretion, Hepatosplenomegaly, Absence of lymph node germinal ... ORPHA:79124
Aregenerative Anemia
Bone marrow hypocellularity, Lymphadenopathy ORPHA:101096
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Hyper-Igd Syndrome
Splenomegaly, Hepatosplenomegaly, Lymphadenitis, Lymphadenopathy OMIM:260920
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Type I diabetes mellitus, Splenomegaly, Hypothyroidism, Hyperthyroidism, Lymphadenopathy, Abnorma... ORPHA:37042
Doors Syndrome
Congenital hypothyroidism, Adrenal hyperplasia ORPHA:79500
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Cervical lymphadenopathy, Enlargement of parotid gland, Splenomeg... ORPHA:50918
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy ORPHA:93552
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232
Acute Promyelocytic Leukemia
Lymphadenopathy ORPHA:520
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:233710
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Abnormal pancreas morphology, Abnormality of the submandibular glands, ... ORPHA:449432
Immunodeficiency 31C
Splenomegaly, Hypothyroidism, Delayed puberty, Lymphadenopathy, Diabetes mellitus OMIM:614162
Neuroblastoma
Elevated circulating catecholamine level, Lymphadenopathy ORPHA:635
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Polysplenia, Splenomegaly, Lymphadenopathy, Hypertriglyceridemia OMIM:619418
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy OMIM:617099
Graft Versus Host Disease
Hepatosplenomegaly, Lymphadenopathy ORPHA:39812
Agammaglobulinemia, X-Linked
Lymph node hypoplasia OMIM:300755
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:233690
Farber Disease
Hepatosplenomegaly, Lymphadenopathy ORPHA:333
Waldenström Macroglobulinemia
Splenomegaly, Lymphadenopathy ORPHA:33226
Neuroendocrine Neoplasm Of Appendix
Increased serum serotonin, Primary hypercortisolism, Chronic noninfectious lymphadenopathy, Adren... ORPHA:100079
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Narrow palate, Abnormal large intestine morphology, Hamartomatous polyposis ORPHA:109
Multiple Endocrine Neoplasia Type 2
Thyroid C cell hyperplasia, Paraganglioma of head and neck, Elevated circulating parathyroid horm... ORPHA:653
Selective Igm Deficiency
Hashimoto thyroiditis, Thyroid carcinoma, Lymphadenitis, Lymphadenopathy ORPHA:331235
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Bone marrow hypocellularity, Type I diabetes mellitus, Hepatosplenomegaly, Splenomegaly, Hashimot... OMIM:615688
Spondyloenchondrodysplasia With Immune Dysregulation
Hypothyroidism, Lymphadenopathy OMIM:607944
Acute Generalized Exanthematous Pustulosis
Lymphadenopathy ORPHA:293173
Systemic Mastocytosis With Associated Hematologic Neoplasm
Splenomegaly, Lymphadenopathy ORPHA:98849
Autoimmune Lymphoproliferative Syndrome
Bone marrow hypocellularity, Thyroid adenoma, Hypersplenism, Thyroid carcinoma, Chronic noninfect... ORPHA:3261
Q Fever
Splenomegaly, Hepatosplenomegaly, Lymphadenopathy ORPHA:781
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Lymphadenopathy OMIM:617718
Gallbladder Neuroendocrine Tumor
Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy ORPHA:100086
Congenital Syphilis
Hepatosplenomegaly, Lymphadenopathy ORPHA:499009
Chédiak-Higashi Syndrome
Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, Hypertriglyceridemia ORPHA:167
Common Variable Immunodeficiency
Splenomegaly, Lymphadenopathy ORPHA:1572
Granulomatous Disease, Chronic, X-Linked
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:306400
Immunodeficiency 55
Lymphadenopathy OMIM:617827
Igg4-Related Dacryoadenitis And Sialadenitis
Abnormal salivary gland morphology, Abnormality of the submandibular glands, Enlargement of parot... ORPHA:79078
Hennekam Syndrome
Splenomegaly, Lymphangioma, Lymphadenopathy, Pulmonary lymphangiectasia ORPHA:2136
Ileal Neuroendocrine Tumor
Increased serum serotonin, Small intestine carcinoid, Lymphadenopathy ORPHA:100078
Coccidioidomycosis
Abnormality of the spleen, Abnormality of the endocrine system, Mediastinal lymphadenopathy, Lymp... ORPHA:228123
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection OMIM:600802
Multiple Myeloma
Splenomegaly, Lymphadenopathy ORPHA:29073
Lymphangioleiomyomatosis
Pulmonary lymphangiomyomatosis, Lymphadenopathy, Abnormality of the lymphatic system ORPHA:538
Sarcoidosis
Enlarged lacrimal glands, Parotitis, Abnormal lymph node morphology, Enlargement of parotid gland... ORPHA:797
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Splenomegaly, Lymphadenopathy, Orchitis ORPHA:32960
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hepatosplenomegaly, Lymphadenopathy ORPHA:85408
Familial Mediterranean Fever
Splenomegaly, Lymphadenopathy, Orchitis ORPHA:342
Igg4-Related Ophthalmic Disease
Sialadenitis, Orchitis, Abnormality of the anterior pituitary, Lymphadenopathy, Enlarged lacrimal... ORPHA:449563
Igg4-Related Kidney Disease
Lymphadenitis, Sialadenitis, Abnormality of the anterior pituitary, Lymphadenopathy, Thyroiditis ORPHA:449395
Microphthalmia, Syndromic 1
Anophthalmia, Cryptorchidism, Microphthalmia OMIM:309800
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated circulating thyroid-stimulating hormone concentration, Parotitis, Splenomegaly, Lymphade... OMIM:256040
Crimean-Congo Hemorrhagic Fever
Parotitis, Adrenal insufficiency, Splenomegaly, Orchitis, Lymphadenopathy, Inappropriate antidiur... ORPHA:99827
Chikungunya
Cervical lymphadenopathy, Lymphadenopathy ORPHA:324625
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Brucellosis
Splenomegaly, Hypersplenism, Lymphadenopathy, Orchitis ORPHA:1304
African Trypanosomiasis
Hepatosplenomegaly, Abnormality of circulating cortisol level, Splenomegaly, Abnormality of renin... ORPHA:3385
Craniofacial Microsomia 1
Anophthalmia, Microphthalmia OMIM:164210
Behçet Disease
Splenomegaly, Lymphadenopathy, Orchitis ORPHA:117
Autosomal Recessive Malignant Osteopetrosis
Splenomegaly, Lymphadenopathy ORPHA:667
Primary Sjögren Syndrome
Lymphadenopathy, Thyroiditis, Parotitis ORPHA:289390
Immunodeficiency 82 With Systemic Inflammation
Splenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:619381
Blau Syndrome
Splenomegaly, Abnormal salivary gland morphology, Lymphadenopathy ORPHA:90340
Marburg Hemorrhagic Fever
Lymphadenopathy, Orchitis ORPHA:99826
Systemic Lupus Erythematosus
Lymphadenopathy ORPHA:536
Leptospirosis
Lymphadenopathy ORPHA:509

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 Or1e32

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 Or1e32.

No publications found that use IMPC mice or data for Or1e32.

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
Or1e32em1(IMPC)Mbp Exon Deletion Mice, Tissue
Or1e32tm51897(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter