Gene Summary

Name:
interleukin 17 receptor E
Synonyms:
Il25r

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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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 Skull Lateral Orientation

5 Images

X-ray

XRay Images Whole Body Lateral Orientation

5 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

5 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

X-ray

XRay Images Forepaw

5 Images

X-ray

XRay Images Whole Body Dorso Ventral

5 Images

Human diseases caused by Il17re 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 Il17re by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 34
Severe recurrent varicella, Recurrent mycobacterial infections OMIM:300645
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent mycobacterial infections, Recurrent viral infections OMIM:613796
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1
Recurrent herpes, Herpes simplex encephalitis OMIM:610551
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Human Coronavirus Sensitivity
Susceptibility to coronavirus 229e OMIM:122460
Leishmaniasis, Tegumentary, Susceptibility To
Tegumentary leishmaniasis susceptibility OMIM:602068
Varicella, Severe Recurrent
Severe recurrent varicella OMIM:600670
Candidiasis, Familial, 4
Recurrent vulvovaginal candidiasis, Onychomycosis OMIM:613108
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Coxsackievirus B3 Susceptibility
Recurrent viral infections OMIM:120050
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections OMIM:308220
Ciliary Discoordination Due To Random Ciliary Orientation
Recurrent infections OMIM:215518
Mannose-Binding Lectin Deficiency
Recurrent herpes, Disseminated cryptosporidium infection, Recurrent meningococcal disease, Recurr... OMIM:614372
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent streptococcus pneumoniae infections, Recurrent staphylococcal infections, Recurrent bac... ORPHA:70592
Agammaglobulinemia 2, Autosomal Recessive
Meningitis, Recurrent respiratory infections, Recurrent bacterial infections, Recurrent pneumonia OMIM:613500
Immunodeficiency 53
Recurrent otitis media, Recurrent infections, Recurrent respiratory infections OMIM:617585
Myelolymphatic Insufficiency
Recurrent viral infections, Recurrent bacterial infections OMIM:310350
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Recurrent bacterial infections OMIM:613495
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Monocyte and dendritic cell deficiency, autosomal recessive
Recurrent infections OMIM:614894
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections OMIM:242870
Immunodeficiency 12
Recurrent viral infections, Recurrent bacterial infections OMIM:615468
Immunodeficiency 35
Recurrent viral infections, Recurrent respiratory infections, Recurrent mycobacterial infections,... OMIM:611521
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent abscess formation, Recurrent Staphylococc... OMIM:613860
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections OMIM:616022
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Tuftsin Deficiency
Recurrent infections OMIM:191150
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency
Recurrent bacterial skin infections ORPHA:183713
Inflammatory Bowel Disease 28, Autosomal Recessive
Folliculitis, Hematochezia, Pyoderma, Colitis, Perianal abscess, Enterocolitis, Crohn's disease OMIM:613148
Acne Inversa, Familial, 3
Recurrent cutaneous abscess formation, Chronic furunculosis, Acne inversa, Perifolliculitis OMIM:613737
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bronchitis, Recurrent otitis media, Recurrent respiratory infections, Recurrent bacteri... OMIM:613501
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent viral infections, Recurrent bacterial infections OMIM:608957
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent viral infections, Recurrent fungal infections, Recurrent bacterial infections OMIM:614868
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Enterocutaneous fistula, Perianal abscess, Rectovaginal fistula, Enterocolitis OMIM:612567
Masp2 Deficiency
Ulcerative colitis, Recurrent pneumonia OMIM:613791
Mental Retardation And Psoriasis
Psoriasiform dermatitis OMIM:309480
X-Linked Intellectual Disability-Seizures-Psoriasis Syndrome
Psoriasiform dermatitis ORPHA:3052
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Immunodeficiency 32A
Recurrent infections OMIM:614893
Mycosis Fungoides
Pruritus, Psoriasiform dermatitis, Eczema OMIM:254400
Immunodeficiency 61
Recurrent otitis media, Recurrent sinusitis, Recurrent bacterial infections, Frequent Giardia lam... OMIM:300310
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Skin rash, Pruritus, Poor appetite, Palmoplantar pustulosis,... ORPHA:324964
Agammaglobulinemia 6, Autosomal Recessive
Recurrent bronchitis, Recurrent pneumonia, Recurrent otitis media, Recurrent bacterial infections... OMIM:612692
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Agammaglobulinemia 4, Autosomal Recessive
Recurrent bacterial infections, Recurrent otitis media, Recurrent respiratory infections, Recurre... OMIM:613502
Psoriasis 1, Susceptibility To
Psoriasiform dermatitis, Arthritis OMIM:177900
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Recurrent sinusitis, Perioral eczema, Colitis, Diarrhea, Recurrent aphthous stomatitis OMIM:613960
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Recurrent up... OMIM:605258
Immunodeficiency, Common Variable, 4
Recurrent sinusitis, Recurrent bacterial infections, Recurrent pneumonia OMIM:613494
Immunodeficiency 51
Recurrent bronchitis, Chronic oral candidiasis, Recurrent Staphylococcus aureus infections, Recur... OMIM:613953
Hyperlipoproteinemia, Type Id
Failure to thrive, Colitis OMIM:615947
Complement Factor B Deficiency
Meningitis, Recurrent meningococcal disease, Recurrent bacterial infections OMIM:615561
Bullous Pemphigoid
Eczema, Psoriasiform dermatitis, Weight loss ORPHA:703
Psoriasis 15, Pustular, Susceptibility To
Psoriasiform dermatitis OMIM:616106
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Abdominal pain, Ulcerative colitis, Weight loss, Diarrhea, R... OMIM:266600
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Pruritus, Abdominal pain ORPHA:46487
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Autoimmune Lymphoproliferative Syndrome, Type V
Bronchiectasis, Chronic atrophic gastritis, Lymphocytic infiltration of the colorectal mucosa, Di... OMIM:616100
Inflammatory Bowel Disease (Crohn Disease) 30
Esophagitis, Duodenitis, Abdominal pain, Chronic diarrhea, Ileitis, Protein-losing enteropathy, P... OMIM:619079
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea OMIM:619398
Spondyloarthropathy, Susceptibility To, 1
Inflammation of the large intestine, Hip osteoarthritis, Psoriasiform dermatitis, Oligoarthritis,... OMIM:106300
Gastrointestinal Defects And Immunodeficiency Syndrome
Interface hepatitis, Hematochezia, Intestinal malrotation, Hypoplasia of the thymus, Psoriasiform... OMIM:243150
Sapho Syndrome
Inflammation of the large intestine, Skin rash, Pustule, Abdominal pain, Palmoplantar pustulosis,... ORPHA:793
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Abdominal distention, Secretory diarrhea OMIM:616868
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Inflammatory Bowel Disease 11
Inflammation of the large intestine, Hematochezia, Abdominal pain, Weight loss, Diarrhea OMIM:191390
Bleeding Disorder, Platelet-Type, 21
Eczema, Psoriasiform dermatitis OMIM:617443
Hirschsprung Disease, Susceptibility To, 1
Constipation, Aganglionic megacolon, Abnormality of enteric ganglion morphology, Vomiting, Entero... OMIM:142623
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Failure to thrive, Psoriasiform dermatitis, Blepharitis OMIM:616834
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, BCGosis, Histoplasmosis, Severe toxoplasmosis, Recurren... ORPHA:319552
Immunodeficiency 17
Recurrent gastroenteritis, Recurrent otitis media, Failure to thrive, Eczema, Abnormal intestine ... OMIM:615607
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Colitis, Hepatitis, Recurrent skin infections,... OMIM:300635
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections OMIM:613779
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Recurrent infections OMIM:617014
Linear Iga Dermatosis
Inflammation of the large intestine, Pruritus ORPHA:46488
5-Oxoprolinase Deficiency
Vomiting, Enterocolitis, Diarrhea, Abdominal pain OMIM:260005
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Nasogastric tube feeding, Interstitial pneumonitis, Eczematoid dermatitis, Thyroiditis, Pneumonia... ORPHA:37042
Immunodeficiency, Common Variable, 10
Recurrent otitis media, Recurrent sinusitis, Pyloric stenosis, Psoriasiform dermatitis, Recurrent... OMIM:615577
Benign Cephalic Histiocytosis
Skin rash, Inflammatory abnormality of the skin ORPHA:157997
Psoriasis 14, Pustular
Pustule, Geographic tongue, Furrowed tongue, Cholangitis, Oligoarthritis, Psoriasiform dermatitis OMIM:614204
Enterocolitis
Hematochezia, Ulcerative colitis, Abdominal distention, Enterocolitis OMIM:226150
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infections, Recurren... OMIM:243700
Immune Deficiency Disease
Recurrent viral infections, Recurrent bacterial infections OMIM:242850
Juvenile Idiopathic Arthritis
Skin rash, Abdominal pain, Uveitis, Psoriasiform dermatitis, Malabsorption, Arthritis ORPHA:92
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Colitis ORPHA:88643
Psoriasis 2
Psoriasiform dermatitis OMIM:602723
Diverticulosis, Small-Intestinal
Jejunoileal diverticula, Thyroiditis, Rheumatoid arthritis, Ulcerative colitis, Duodenal divertic... OMIM:223320
Neonatal Inflammatory Skin And Bowel Disease
Pustule, Chapped lip, Recurrent gastroenteritis, Recurrent bacterial skin infections, Anal fissur... ORPHA:294023
Lig4 Syndrome
Cryptorchidism, Psoriasiform dermatitis, Failure to thrive OMIM:606593
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Recurrent sinusitis, Chronic diarrhea OMIM:617765
Visceral Myopathy 2
Megaduodenum, Esophagitis, Hiatus hernia, Dysphagia, Gastroesophageal reflux, Intestinal malrotat... OMIM:619350
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Recurrent sinusitis, Recurrent respiratory infections, Recurrent bacteria... OMIM:613493
Autoinflammatory Syndrome, Familial, Behcet-Like
Skin rash, Ileal ulcer, Anterior uveitis, Colitis OMIM:616744
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Colitis, Cystic acne, Sterile arthritis, Acne, Arthritis OMIM:604416
Immunodeficiency 27B
Recurrent mycobacterial infections OMIM:615978
Immunodeficiency 33
Disseminated nontuberculous mycobacterial infection, Recurrent bacterial infections OMIM:300636
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Skin rash, Bronchiectasis, Perianal abscess, Diarrhea, Gastr... OMIM:618108
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Chronic oral candidiasis, Thyroiditis, Erythroderma, Villous atrophy, Chronic diarrhea, Failure t... OMIM:606367
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Crohn's disease, Failure to thrive, Mucoid diarrhea OMIM:615767
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent Haemophilus influenzae infections, Recurrent bronchitis OMIM:300455
Familial Reactive Perforating Collagenosis
Pruritus, Perifolliculitis, Maculopapular exanthema, Crusting erythematous dermatitis, Inflammato... ORPHA:79147
Kerion Celsi
Recurrent skin infections, Recurrent cutaneous abscess formation, Inflammatory abnormality of the... ORPHA:499
Pseudomyxoma Peritonei
Inflammation of the large intestine, Abdominal pain, Constipation, Weight loss, Nausea and vomiti... ORPHA:26790
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Colitis OMIM:617006
Immunodeficiency 67
Recurrent streptococcal infections, Recurrent staphylococcal infections OMIM:607676
Immunodeficiency With Hyper-Igm, Type 5
Recurrent upper and lower respiratory tract infections, Recurrent bacterial infections OMIM:608106
Immunodeficiency With Hyper-Igm, Type 4
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Recurrent uppe... OMIM:608184
Immunodeficiency 37
Encephalitis, Colitis OMIM:616098
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Inflammation of the large intestine, Chronic gastritis, Dysphagia, Colitis, Diarrhea, Failure to ... OMIM:608809
Combined Immunodeficiency-Enteropathy Spectrum
Gastrointestinal atresia, Hashimoto thyroiditis, Intestinal malrotation, Jejunoileal ulceration, ... ORPHA:436252
Immunodeficiency 70
Furuncle, Recurrent sinusitis, Achalasia, Colitis, Celiac disease OMIM:618969
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Erythroderma, Psoriasiform dermatitis, Recurrent skin infections OMIM:615508
Specific Granule Deficiency 2
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia OMIM:617475
Griscelli Syndrome, Type 2
Recurrent bacterial infections OMIM:607624
Specific Granule Deficiency 1
Recurrent bacterial infections OMIM:245480
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Recurrent sinusitis, Recurrent pneumonia, Recurrent enteroviral infection... OMIM:601495
Secondary Short Bowel Syndrome
Malnutrition, Small intestinal dysmotility, Constipation, Villous atrophy, Aganglionic megacolon,... ORPHA:95427
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Eosinophilic microabscess formation in the esophagus, Esophagitis, Allergic rhinitis, Atopic derm... ORPHA:411696
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Colitis, Protracted diarrhea, Cholangitis, Encephalitis, Chroni... OMIM:209920
Immunodeficiency 58
Esophagitis, Seborrheic dermatitis, Cutaneous abscess, Allergic rhinitis, Bronchiectasis, Helicob... OMIM:618131
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections OMIM:616873
Immunodeficiency 76
Colitis, Chronic diarrhea, Recurrent pneumonia OMIM:619164
Psoriasis-Related Juvenile Idiopathic Arthritis
Skin rash, Pruritus, Iridocyclitis, Iritis, Uveitis, Sacroiliac arthritis, Malar rash, Oligoarthr... ORPHA:85436
Spinocerebellar Ataxia Type 42
Dysphagia, Psoriasiform dermatitis ORPHA:458803
Autoinflammation With Infantile Enterocolitis
Skin rash, Villous atrophy, Episodic vomiting, Failure to thrive, Feeding difficulties in infancy... OMIM:616050
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Eosinophilic liver infiltration, Membranous nephropathy, Failure to thrive, Co... OMIM:618999
Trichohepatoenteric Syndrome 2
Villous atrophy, Colitis, Hepatitis, Small for gestational age, Diarrhea, Failure to thrive OMIM:614602
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent opportunistic infections, Recurrent upper and lower respiratory tract infections, Recur... ORPHA:275
Complement Component 5 Deficiency
Recurrent meningococcal disease OMIM:609536
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Failure to thrive, Recurrent pneumon... ORPHA:293978
Cernunnos-Xlf Deficiency
Recurrent viral infections, Recurrent bacterial infections ORPHA:169079
Gastroesophageal Reflux
Esophagitis, Gastroesophageal reflux, Barrett esophagus, Esophageal neoplasm OMIM:109350
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Recurrent sinusitis, Chronic diarrhea, Colitis, Recurrent pn... OMIM:619281
Whim Syndrome 1
Recurrent bacterial infections, Recurrent upper respiratory tract infections OMIM:193670
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Recurrent infections, Recurrent fungal infections, Recurrent bacte... ORPHA:2688
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Recurrent cutaneous abscess formation, Chronic furunculosis, Acne inversa, Perifolliculitis OMIM:613736
Combined Immunodeficiency Due To Zap70 Deficiency
Skin rash, Chronic oral candidiasis, Lymphadenitis, Recurrent bacterial skin infections, Chronic ... ORPHA:911
Hypercholanemia, Familial 1
Pruritus, Fat malabsorption, Steatorrhea, Failure to thrive OMIM:607748
Immunodeficiency, Common Variable, 2
Recurrent bronchitis, Recurrent otitis media, Recurrent sinusitis, Meningitis, Recurrent pneumoni... OMIM:240500
Igg4-Related Retroperitoneal Fibrosis
Hydrocele testis, Abdominal pain, Rheumatoid arthritis, Constipation, Hashimoto thyroiditis, Memb... ORPHA:49041
H Syndrome
Azoospermia, Bronchiectasis, Psoriasiform dermatitis, Chronic rhinitis, Decreased testicular size... ORPHA:168569
Esophagitis, Eosinophilic, 1
Dysphagia, Esophagitis, Vomiting, Failure to thrive OMIM:610247
Esophagitis, Eosinophilic, 2
Dysphagia, Esophagitis, Vomiting, Failure to thrive OMIM:613412
Immunodeficiency 60
Bronchiectasis, Chronic diarrhea, Ulcerative colitis, Colitis, Crohn's disease OMIM:618394
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections OMIM:606843
Immunodeficiency 21
Recurrent viral infections, Recurrent mycobacterium avium complex infections, Recurrent fungal in... OMIM:614172
Iga Pemphigus
Pruritus, Pustule, Cutaneous abscess, Neutrophilic infiltration of the skin, Ulcerative colitis ORPHA:555905
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Nasogastric tube feeding, Chronic oral candidiasis, Gastroesophageal reflux, Diarrhea, Recurrent ... ORPHA:221139
Intermediate Uveitis
Anterior uveitis, Psoriasiform dermatitis, Tubulointerstitial nephritis, Optic neuritis ORPHA:279914
Pyoderma Gangrenosum
Inflammation of the large intestine, Pustule, Rheumatoid arthritis, Myositis ORPHA:48104
Immunodeficiency, Common Variable, 1
Recurrent bronchitis, Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Recurrent... OMIM:607594
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Bronchiectasis, Thyroiditis, Recurrent otitis media, Recurre... OMIM:614700
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections OMIM:202700
Immunodeficiency 47
Recurrent bacterial infections OMIM:300972
Limb-Mammary Syndrome
Absent nipple, Aplasia of the ovary, Bilateral breast hypoplasia, Chronic irritative conjunctivit... ORPHA:69085
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Duodenitis, Erythroderma, Villous atrophy, Failure to thrive, Blepharitis, Bloody diarrhea OMIM:614328
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent sinusitis, Colitis OMIM:613101
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent herpes, Recurrent Haemophilus influenzae infections, Recurrent opportunistic infections... ORPHA:276
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Recurrent bacterial infections OMIM:613496
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent herpes, Recurrent fungal infections, Recurrent Staphylococcus aureus infections, Recurr... ORPHA:572
Cyclic Neutropenia
Peritonitis, Abdominal pain, Periodontitis, Perianal abscess, Sinusitis, Recurrent skin infection... ORPHA:2686
Immunodeficiency 10
Recurrent infections, Recurrent bacterial infections OMIM:612783
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenitis, Ulcerative colitis, Acute pancreatitis, Perianal abscess, Recurrent pneumonia, Ecz... OMIM:618935
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent otitis media, Recurrent urinary tract infections, Pyoderma, Meningitis, Encephalitis, E... OMIM:307200
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent fungal infections, Recurrent Staphylococcus aureus infections, Recurrent sinopulmonary ... OMIM:147060
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent fungal infections, Recurrent viral infections, Meningitis, Recurrent mycobacterial infe... ORPHA:169090
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Colitis OMIM:615190
Complement Factor I Deficiency
Recurrent Haemophilus influenzae infections, Recurrent otitis media, Recurrent sinusitis, Recurre... OMIM:610984
Leukocyte Adhesion Deficiency, Type I
Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Recurrent bact... OMIM:116920
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Psoriasiform dermatitis, Hypoparathyroidism, Parathyroid hypoplasia, Cleft palate ORPHA:2237
Shigellosis
Peritonitis, Acute colitis, Paralytic ileus, Intestinal perforation, Tenesmus, Abdominal cramps, ... ORPHA:810
Immunodeficiency 36
Recurrent respiratory infections, Recurrent bacterial infections OMIM:616005
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Recurrent Serratia ... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Recurrent Serratia ... OMIM:233710
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Inflammation of the large intestine, Failure to thrive OMIM:617718
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Recurrent Serratia ... OMIM:233690
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Recurrent Serratia ... OMIM:306400
Amoebiasis Due To Entamoeba Histolytica
Acute colitis, Constrictive pericarditis, Abdominal pain, Weight loss, Protracted diarrhea, Diarr... ORPHA:67
Selective Igm Deficiency
Recurrent urinary tract infections, Onychomycosis, Pulmonary tuberculosis, Recurrent vulvovaginal... ORPHA:331235
Gastrointestinal Stromal Tumor
Skin rash, Neoplasm of the gastrointestinal tract, Gastrointestinal stroma tumor, Gastrointestina... ORPHA:44890
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Bronchiectasis, Chronic diarrhea, Failure to thrive in infancy, Colitis, Recurrent pneumonia OMIM:301220
Autoimmune Hepatitis
Inflammation of the large intestine, Acute hepatitis, Gastrointestinal hemorrhage, Abdominal pain... ORPHA:2137
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Ulcerative colitis, Interstitial pneumonitis OMIM:614878
Familial Hemophagocytic Lymphohistiocytosis
Skin rash, Erythroderma, Maculopapular exanthema, Colitis, Decreased liver function, Encephalitis ORPHA:540
Hermansky-Pudlak Syndrome 1
Inflammation of the large intestine, Abdominal pain, Hematochezia, Colitis OMIM:203300
Reactive Arthritis
Inflammation of the large intestine, Pustule, Pericarditis, Abdominal pain, Weight loss, Conjunct... ORPHA:29207
Omenn Syndrome
Recurrent viral infections, Recurrent fungal infections, Recurrent bacterial infections OMIM:603554
Leukocyte Adhesion Deficiency, Type Iii
Sepsis, Recurrent bacterial infections OMIM:612840
Zygomycosis
Peritonitis, Pericarditis, Ileitis, Melena, Diarrhea, Sinusitis, Vomiting, Myocarditis, Endocardi... ORPHA:73263
Autosomal Dominant Severe Congenital Neutropenia
Recurrent viral infections, Recurrent sinopulmonary infections, Recurrent bacterial infections, R... ORPHA:486
Sweet Syndrome
Inflammation of the large intestine, Pustule, Panniculitis, Oligoarthritis, Myositis, Acne invers... ORPHA:3243
Ectodermal Dysplasia And Immunodeficiency 1
Molluscum contagiosum, Severe cytomegalovirus infection, Recurrent bacterial infections OMIM:300291
Pancreatic Triacylglycerol Lipase Deficiency
Exocrine pancreatic insufficiency, Abdominal pain, Weight loss, Colitis, Steatorrhea, Keratoconju... ORPHA:309031
Purine Nucleoside Phosphorylase Deficiency
Recurrent opportunistic infections, Recurrent upper respiratory tract infections, Recurrent urina... OMIM:613179
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Peritonitis, Acute colitis, Intestinal perforation, Abdominal pain, Intussusception, Colonic sten... ORPHA:90038
Kindler Epidermolysis Bullosa
Inflammation of the large intestine, Esophagitis, Dysphagia, Periodontitis, Cheilitis, Colitis, E... ORPHA:2908
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Bronchiectasis, Esophageal carcinoma, Thyroiditis, Villous atrophy, Hepatitis, Diarrhea, Encephal... ORPHA:391487
Idiopathic Hypereosinophilic Syndrome
Pruritus, Inflammatory abnormality of the skin, Abdominal pain, Erythroderma, Dysphagia, Chronic ... ORPHA:3260
Idiopathic Bronchiectasis
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections ORPHA:60033
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent fungal infections, Recurrent upper and lower respiratory tract infections, Recurrent vi... ORPHA:331206
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Pruritus, Interface hepatitis, Granulomatous cholangitis, Sc... ORPHA:562639
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections OMIM:603585
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Esophageal varix, Chronic diarrhea, Failure to thrive OMIM:614576
Sepsis In Premature Infants
Gastrointestinal dysmotility, Decreased body weight, Functional abnormality of the gastrointestin... ORPHA:90051
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Necrotizing enterocolitis, Gastroesophageal reflux, Episodic vomiting OMIM:201475
Plague
Inflammation of the large intestine, Skin rash, Chapped lip, Endocarditis, Glossitis, Hematemesis... ORPHA:707
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Anoperineal fistula, Eosinophilic infiltration of the esophagus, Perianal abscess, Pancolitis, Fa... OMIM:618213
Primary Sclerosing Cholangitis
Pruritus, Abdominal pain, Thyroiditis, Hepatocellular carcinoma, Ulcerative colitis, Uveitis, Wei... ORPHA:171
Immunodeficiency With Hyper-Igm, Type 1
Meningitis, Sepsis, Recurrent lower respiratory tract infections, Recurrent bacterial infections OMIM:308230
Wiskott-Aldrich Syndrome, Autosomal Dominant
Inflammation of the large intestine, Pneumonia, Diarrhea, Sinusitis, Eczema, Otitis media OMIM:600903
Immunodeficiency 23
Recurrent staphylococcal infections, Persistent EBV viremia, Recurrent Staphylococcus aureus infe... OMIM:615816
Sandifer Syndrome
Esophagitis, Hiatus hernia, Feeding difficulties, Hematemesis, Gastroesophageal reflux, Episodic ... ORPHA:71272
Syndromic Diarrhea
Villous atrophy, Colitis, Hypoplasia of the thymus, Small for gestational age, Gastritis, Intract... ORPHA:84064
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections OMIM:244460
Infection-Related Hemolytic Uremic Syndrome
Acute colitis, Intestinal perforation, Abdominal cramps, Gastrointestinal infarctions, Abdominal ... ORPHA:544482
Vici Syndrome
Recurrent fungal infections, Recurrent viral infections, Chronic mucocutaneous candidiasis, Recur... OMIM:242840
Hypocomplementemic Urticarial Vasculitis
Meningitis, Recurrent bacterial infections ORPHA:36412
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Protuberant abdomen, Thyroiditis, Periodontitis, Hepatocellu... ORPHA:79259
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Chronic oral candidiasis, Recurrent otitis media, Recurrent abscess formatio... OMIM:608233
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure ORPHA:331
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections OMIM:241410
Pgm3-Cdg
Recurrent fungal infections, Recurrent viral infections, Recurrent infections, Recurrent pneumoni... ORPHA:443811
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Sepsis, Recurrent respiratory infections, Recurrent bacterial infections OMIM:612541
Cocaine Intoxication
Intestinal perforation, Abdominal pain, Gastrointestinal infarctions, Nausea, Colitis, Glomerulon... ORPHA:90068
Mirage Syndrome
Sepsis, Recurrent urinary tract infections, Recurrent bacterial infections OMIM:617053
Autoimmune Lymphoproliferative Syndrome
Thyroiditis, Hepatocellular carcinoma, Panniculitis, Uveitis, Colitis, Glomerulonephritis, Hepati... ORPHA:3261
Chromomycosis
Recurrent bacterial infections ORPHA:182
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Hematemesis, Recurrent otitis media, Recurrent sinusitis, Ch... OMIM:301000
Zollinger-Ellison Syndrome
Parathyroid hyperplasia, Esophagitis, Pituitary growth hormone cell adenoma, Elevated circulating... ORPHA:913
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Recurrent viral infections, Recurrent fungal infections, Recurrent bacterial infections OMIM:102700
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Hematemesis, Hematochezia, Chronic otitis media, Chronic dia... ORPHA:906
Whim Syndrome
Recurrent upper respiratory tract infections, Meningitis, Recurrent pneumonia, Sepsis, Recurrent ... ORPHA:51636
Sickle Cell Anemia
Recurrent bacterial infections OMIM:603903
Infantile Systemic Hyalinosis
Recurrent bacterial infections ORPHA:2176
Ch├ędiak-Higashi Syndrome
Recurrent streptococcal infections, Recurrent staphylococcal infections, Recurrent bacterial skin... ORPHA:167
Frontometaphyseal Dysplasia 2
Cryptorchidism, Webbed neck, Gastroesophageal reflux, Ulcerative colitis, Cleft palate, Bifid uvu... OMIM:617137
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections OMIM:248500
Chediak-Higashi Syndrome
Recurrent bacterial skin infections, Recurrent infections, Recurrent systemic pyogenic infections OMIM:214500
Primary Ciliary Dyskinesia
Recurrent otitis media, Recurrent mycobacterial infections, Recurrent sinopulmonary infections ORPHA:244
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Enlarged lacrimal glands, Iridocyclitis, Bronchiectasis, Uve... OMIM:181000
X-Linked Lymphoproliferative Disease
Inflammation of the large intestine, Colitis, Fulminant hepatitis, Decreased liver function, Hepa... ORPHA:2442
Leukocyte Adhesion Deficiency
Recurrent tonsillitis, Recurrent fungal infections, BCGosis, Chronic oral candidiasis, Recurrent ... ORPHA:2968
Glycogen Storage Disease Ib
Recurrent bacterial infections OMIM:232220
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Osteomyelitis, Obesity ORPHA:70591
Turner Syndrome
Inflammation of the large intestine, Gastrointestinal inflammation, Abnormality of the ovary, Inc... ORPHA:881
Mosaic Monosomy X
Inflammation of the large intestine, Gastrointestinal inflammation, Abnormality of the ovary, Inc... ORPHA:99228
Monosomy X
Inflammation of the large intestine, Gastrointestinal inflammation, Abnormality of the ovary, Inc... ORPHA:99226
Turner Syndrome Due To Structural X Chromosome Anomalies
Inflammation of the large intestine, Gastrointestinal inflammation, Abnormality of the ovary, Inc... ORPHA:99413
Shwachman-Diamond Syndrome
Sepsis, Recurrent viral infections, Recurrent bacterial infections ORPHA:811
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections ORPHA:99104
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections ORPHA:99103
Mowat-Wilson Syndrome
Cryptorchidism, Hydrocele testis, Dysphagia, Recurrent otitis media, Constipation, Aganglionic me... ORPHA:2152
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent infections, Recurrent respiratory infections, Recurrent bacterial infections ORPHA:2273
Lysinuric Protein Intolerance
Recurrent bacterial infections ORPHA:470
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent Staphylococcus aureus infections ORPHA:642

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 Il17re

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 Il17re.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Il17retm1b(EUCOMM)Hmgu PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Il17retm1b(EUCOMM)Wtsi PMC6671969
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017)