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Gene: Or1e32 MGI:3030226

Gene Summary

Name:

olfactory receptor family 1 subfamily E member 32

Synonyms:

GA_x6K02T2P1NL-3966976-3966038, MOR135-9, Olfr392

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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	Allele	Zyg	Life Stage	P Value
enlarged lymph nodes	Or1e32^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal adrenal gland morphology	Or1e32^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal skin morphology	Or1e32^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal cecum morphology	Or1e32^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal eye morphology	Or1e32^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged cecum	Or1e32^em1(IMPC)Mbp	HOM	Early adult	0.00
anophthalmia	Or1e32^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal lymph node morphology	Or1e32^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal cholesterol homeostasis	Or1e32^em1(IMPC)Mbp	HOM	Late adult	2.74×10^-05

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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 Whole Body Lateral Orientation

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X-ray

XRay Images Whole Body Dorso Ventral

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X-ray

XRay Images Whole Body Lateral Orientation

20 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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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.

Human diseases associated with Or1e32 (0 diseases)
Human diseases predicted to be associated with Or1e32 (364 diseases)

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

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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.

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MGI Allele	Allele Type	Produced
Or1e32^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Or1e32^{tm51897(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Or1e32 MGI:3030226

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

Human diseases caused by Or1e32 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data