MCID: RLP001
MIFTS: 54

Relapsing Polychondritis

Categories: Bone diseases, Eye diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Relapsing Polychondritis

MalaCards integrated aliases for Relapsing Polychondritis:

Name: Relapsing Polychondritis 12 52 58 36 15 17 32
Polychondritis, Relapsing 43 71
Polychondropathia 52 58
Chronic Atrophic Polychondritis 52
Chondromalacia, Systemic 12
Recurrent Polychondritis 52
Polychondritis Relapsing 54

Characteristics:

Orphanet epidemiological data:

58
relapsing polychondritis
Prevalence: 1-9/1000000 (United States),1-9/1000000 (Worldwide),<1/1000000 (United Kingdom),1-9/1000000 (United Kingdom); Age of onset: All ages; Age of death: any age;

Classifications:

Orphanet: 58  
Rare eye diseases
Rare renal diseases
Rare systemic and rhumatological diseases


Summaries for Relapsing Polychondritis

NIH Rare Diseases : 52 Relapsing polychondritis (RP) is a rare condition characterized by recurrent inflammation of cartilage and other tissues throughout the body. Cartilage is a tough but flexible tissue that covers the ends of bones at a joint, and gives shape and support to other parts of the body. Ear involvement is the most common feature, but a variety of other areas of the body may be affected, including the costal (rib) cartilage, eyes, nose, airways, heart, vascular (veins) system, skin, joints, kidney, and nervous system. The signs and symptoms vary from person to person depending on which parts of the body are affected. The exact underlying cause of RP is unknown; however, scientists suspect that it is an autoimmune condition . The primary goals of treatment for people with RP are to relieve present symptoms and to preserve the structure of the affected cartilage.

MalaCards based summary : Relapsing Polychondritis, also known as polychondritis, relapsing, is related to scleritis and vasculitis. An important gene associated with Relapsing Polychondritis is MATN1 (Matrilin 1), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. The drugs Aldesleukin and Analgesics, Non-Narcotic have been mentioned in the context of this disorder. Affiliated tissues include eye, heart and skin, and related phenotypes are cataract and arthritis

KEGG : 36 Relapsing polychondritis (RP) is a rare multisystemic disease widely accepted as a complex autoimmune disorder affecting proteoglycan-rich structures and cartilaginous tissues, including the ear, nose, larynx, trachea, bronchi, peripheral joints, eye, heart, and skin, with high risk of misdiagnosis. The clinical spectrum may vary from intermittent inflammatory episodes leading to unesthetic structural deformities to life-threatening cardiopulmonary manifestations, such as airway collapse and valvular regurgitation. The diagnosis of RP is largely based on the clinical features and the role of laboratory investigations is purely supportive and to rule out other related or associated systemic diseases. Treatment in RP is largely symptomatic and a standard management protocol is yet to be established due to its rarity.

Wikipedia : 74 Relapsing polychondritis is a multi-systemic condition characterized by repeated episodes of... more...

Related Diseases for Relapsing Polychondritis

Diseases related to Relapsing Polychondritis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 727)
# Related Disease Score Top Affiliating Genes
1 scleritis 31.2 IFNG CRP CCL2
2 vasculitis 30.9 IL6 IL17A CRP CCL2
3 aortitis 30.8 IL6 IL17A CRP
4 arthropathy 30.7 IL6 IFNG CRP COMP
5 cartilage disease 30.7 MATN1 CRP COMP
6 iridocyclitis 30.7 IL6 IL17A CRP
7 systemic autoimmune disease 30.6 IL6 IL17A CRP
8 hypopyon 30.4 IL6 IL17A CRP
9 meningoencephalitis 30.4 IL6 IL10 CRP
10 chondromalacia 30.4 TREM1 MATN1 CRP COMP
11 paraneoplastic syndromes 30.3 IL6 CSF3
12 erysipelas 30.3 IL6 IL2 CRP
13 proliferative glomerulonephritis 30.3 IL6 IFNG CCL2
14 pharyngitis 30.3 IL6 CXCL8 CRP
15 pyoderma 30.2 CXCL8 CSF3 CRP
16 pericarditis 30.2 IL6 IFNG CXCL8 CRP
17 pustulosis of palm and sole 30.2 IL17A CXCL8
18 lung abscess 30.2 IL6 IFNG CRP
19 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 30.2 IL17A IL10 IFNG
20 aortic aneurysm, familial abdominal, 1 30.1 IL6 CRP CCL2
21 optic nerve disease 30.1 IL6 IL17A CRP
22 posterior uveitis 30.1 IL6 IL2 IFNG
23 cellulitis 30.0 IL6 IL10 CRP
24 respiratory failure 30.0 IL6 IL10 CXCL8 CRP
25 varicose veins 30.0 IL6 CXCL8 CCL2
26 purpura 30.0 IL6 IL10 CRP
27 central nervous system vasculitis 30.0 IL6 IL17A IFNG CRP
28 tenosynovitis 30.0 IL6 CRP
29 erythema multiforme 30.0 IL6 IL2 IFNG CXCL8
30 retinal detachment 29.9 IL6 IFNG CXCL8 CCL2
31 synovitis 29.9 MATN1 IL6 CXCL8 CRP COMP
32 cryoglobulinemia 29.9 IL6 IL10 IFNG
33 idiopathic interstitial pneumonia 29.8 IFNG CXCL8 CCL2
34 pancytopenia 29.8 IL6 IFNG CSF3 CRP
35 thrombocytosis 29.8 IL6 CSF3 CRP
36 thyroiditis 29.8 IL6 IL2 IL10
37 mastitis 29.7 IL6 IL17A CXCL8
38 aseptic meningitis 29.7 IL10 IFNG CXCL8 CSF3
39 keratitis, hereditary 29.7 IL6 IL17A IL10 CXCL8
40 encephalitis 29.7 IL6 IL10 CCL4 CCL2
41 temporal arteritis 29.6 IL6 IL17A IFNG CRP CCL2
42 systemic scleroderma 29.6 IL6 IL17A IFNG CRP
43 orchitis 29.6 IL6 IL2 IL10 CRP
44 myasthenia gravis 29.6 IL2 IL10 IFNG
45 acute myocarditis 29.5 IL6 IL10 CRP
46 chronic conjunctivitis 29.5 IL6 IL10 CXCL8
47 spondylitis 29.4 IL6 IL17A IL10 IFNG CRP
48 hemophagocytic lymphohistiocytosis 29.4 IL10 IFNG CXCL8
49 takayasu arteritis 29.4 IL6 IL2 IL10 CRP
50 conjunctivitis 29.4 IL6 IL2 IL10 IFNG CXCL8 CCL2

Graphical network of the top 20 diseases related to Relapsing Polychondritis:



Diseases related to Relapsing Polychondritis

Symptoms & Phenotypes for Relapsing Polychondritis

Human phenotypes related to Relapsing Polychondritis:

58 31 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract 58 31 hallmark (90%) Very frequent (99-80%) HP:0000518
2 arthritis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001369
3 large vessel vasculitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0005310
4 chondritis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100662
5 chondritis of pinna 58 31 hallmark (90%) Very frequent (99-80%) HP:0200047
6 dyspnea 58 31 frequent (33%) Frequent (79-30%) HP:0002094
7 limitation of joint mobility 58 31 frequent (33%) Frequent (79-30%) HP:0001376
8 pericarditis 58 31 frequent (33%) Frequent (79-30%) HP:0001701
9 cough 58 31 frequent (33%) Frequent (79-30%) HP:0012735
10 vertigo 58 31 frequent (33%) Frequent (79-30%) HP:0002321
11 atelectasis 58 31 frequent (33%) Frequent (79-30%) HP:0100750
12 abnormal aortic valve morphology 31 frequent (33%) HP:0001646
13 alopecia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001596
14 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
15 proteinuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0000093
16 renal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000083
17 cranial nerve paralysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0006824
18 laryngomalacia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001601
19 arthralgia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002829
20 hepatitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0012115
21 erythema 58 31 occasional (7.5%) Occasional (29-5%) HP:0010783
22 macule 58 31 occasional (7.5%) Occasional (29-5%) HP:0012733
23 biparietal narrowing 58 31 occasional (7.5%) Occasional (29-5%) HP:0004422
24 hematuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0000790
25 abnormal pattern of respiration 58 31 occasional (7.5%) Occasional (29-5%) HP:0002793
26 gangrene 58 31 occasional (7.5%) Occasional (29-5%) HP:0100758
27 glomerulopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0100820
28 keratitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000491
29 purpura 58 31 occasional (7.5%) Occasional (29-5%) HP:0000979
30 uveitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000554
31 myocarditis 58 31 occasional (7.5%) Occasional (29-5%) HP:0012819
32 conjunctivitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000509
33 anteriorly placed anus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001545
34 thrombophlebitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004418
35 recurrent aphthous stomatitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0011107
36 episcleritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100534
37 scleritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100532
38 dilatation 31 occasional (7.5%) HP:0002617
39 abnormal endocardium morphology 31 occasional (7.5%) HP:0004306
40 abnormality of the aortic valve 58 Frequent (79-30%)
41 venous thrombosis 58 Occasional (29-5%)
42 abnormality of the endocardium 58 Occasional (29-5%)
43 inflammatory abnormality of the eye 58 Occasional (29-5%)
44 aneurysm 58 Occasional (29-5%)

MGI Mouse Phenotypes related to Relapsing Polychondritis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.32 CCL2 COMP CRP CSF3 IFNG IL10

Drugs & Therapeutics for Relapsing Polychondritis

Drugs for Relapsing Polychondritis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aldesleukin Approved Phase 2 110942-02-4, 85898-30-2
2 Analgesics, Non-Narcotic Phase 2
3 Interleukin-2 Phase 2
4 Analgesics Phase 2
5
Abatacept Approved Phase 1 332348-12-6 10237
6 Antirheumatic Agents Phase 1
7 Immunosuppressive Agents Phase 1
8 Immunologic Factors Phase 1
9 Immunoglobulins
10 Antibodies, Antineutrophil Cytoplasmic
11 Antibodies

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Pilot Study of Low Dose IL-2 in the Treatment of Relapsing Polychondritis Not yet recruiting NCT04077736 Phase 2 Interleukin-2
2 Efficacy of Tocilizumab in a Patient With Relapsing Polychondritis Withdrawn NCT01104480 Phase 2 Tocilizumab
3 An Open-Label, Single-Center, Phase I Study on the Safety of Abatacept in Relapsing Polychondritis Completed NCT01272856 Phase 1 Abatacept
4 Efficacy of Tocilizumab in a Patient With Relapsing Polychondritis Completed NCT01041248 Tocilizumab
5 Correlation Between Trachebroncho Malacia/Hyperdynamic Airway Collapse And Obstructive Sleep Apnea Completed NCT02097212
6 Symptomatic Treatment of Excessive Dynamic Airway Collapse Using Daytime Portable Continuous Positive Airway Pressure Completed NCT02763631
7 Physical Training in Patients With Relapsing Polychondritis Recruiting NCT03092141
8 Studies of the Natural History, Pathogenesis, and Outcome of Idiopathic Systemic Vasculitis Recruiting NCT02257866

Search NIH Clinical Center for Relapsing Polychondritis

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Dapsone

Cochrane evidence based reviews: polychondritis, relapsing

Genetic Tests for Relapsing Polychondritis

Anatomical Context for Relapsing Polychondritis

MalaCards organs/tissues related to Relapsing Polychondritis:

40
Eye, Heart, Skin, Bone, Kidney, Trachea, B Cells

Publications for Relapsing Polychondritis

Articles related to Relapsing Polychondritis:

(show top 50) (show all 1326)
# Title Authors PMID Year
1
Relapsing polychondritis, induced in mice with matrilin 1, is an antibody- and complement-dependent disease. 54 61
14982849 2004
2
Cartilage-specific autoimmunity in animal models and clinical aspects in patients - focus on relapsing polychondritis. 54 61
12223103 2002
3
The occurrence of autoantibodies to matrilin 1 reflects a tissue-specific response to cartilage of the respiratory tract in patients with relapsing polychondritis. 54 61
11665983 2001
4
Autoreactivity against matrilin-1 in a patient with relapsing polychondritis. 54 61
10765942 2000
5
Serum concentrations of two cartilage matrix proteins reflecting different aspects of cartilage turnover in relapsing polychondritis. 54 61
7848324 1995
6
Autoantibodies to cartilage collagens in relapsing polychondritis. 54 61
8379684 1993
7
Connective Tissue is the Issue: Relapsing Polychondritis. 61
31299177 2020
8
Diagnosing relapsing polychondritis remains a common challenge: experience from a Chinese retrospective cohort. 61
32036586 2020
9
Single-incision laparoscopic colectomy for ascending colon tumor with relapsing polychondritis. 61
32012468 2020
10
Proposing BCG Vaccination for Mycobacterium avium ss. paratuberculosis (MAP) Associated Autoimmune Diseases. 61
32033287 2020
11
Relapsing Polychondritis with a Cobble-stone Appearance of the Tracheal Mucosa, Preceded by Posterior Reversible Encephalopathy Syndrome. 61
32009099 2020
12
Concomitant aortic valve replacement, mitral valve replacement, and coronary artery bypass grafting for aortic stenosis and mitral regurgitation in a patient with relapsing polychondritis. 61
31041726 2020
13
Advantage of Magnetic Resonance Imaging in Detecting Tracheal Involvement and Evaluation of the Therapeutic Response in Relapsing Polychondritis With Asthma-Like Symptoms. 61
31985719 2020
14
A case of localized tracheobronchial relapsing polychondritis with positive matrilin-1 staining. 61
32016169 2020
15
Chronic Anterior Uveitis Associated with Relapsing Polychondritis: A Case Report. 61
32004110 2020
16
Fluorodeoxyglucose PET/CT of Arthritis in Rheumatic Diseases: A Pictorial Review. 61
31917663 2020
17
Relapsing polychondritis with large airway involvement. 61
31741739 2020
18
Relapsing polychondritis in children: A review. 61
31858851 2020
19
Positron emission tomography/computed tomography in relapsing polychondritis. 61
31834403 2020
20
FDG PET/CT vs. NaF PET/CT in relapsing polychondritis. 61
31591043 2020
21
Fluorodeoxyglucose positron emission tomography/computed tomography in the diagnosis, assessment of disease activity and therapeutic response in relapsing polychondritis. 61
31236569 2020
22
Is 18F-FDG PET/CT useful for diagnosing relapsing polychondritis with airway involvement and monitoring response to steroid-based therapy? 61
31831053 2019
23
Large Vessel Vasculitis Affecting the Aorta and Its Branches in Relapsing Polychondritis: Case Series and Systematic Review of the Literature. 61
31839593 2019
24
Recurrent Optic Perineuritis as the First Manifestation of Relapsing Polychondritis. 61
31453922 2019
25
A 32-year-old female with relapsing polychondritis and common variable immunodeficiency due to a monogenic mutation in NFKB2. 61
31873736 2019
26
Patient-perceived Burden of Disease in Pediatric Relapsing Polychondritis. 61
31043550 2019
27
Ocular inflammation associated with relapsing polychondritis in Japanese patients: a review of 11 patients. 61
31077023 2019
28
Assessment of TNF-α inhibitors in airway involvement of relapsing polychondritis: A systematic review. 61
31689839 2019
29
Aortic involvement in relapsing polychondritis: case-based review. 61
31768631 2019
30
Reconstructive rhinoplasty with costal cartilage grafting: A case report of relapsing polychondritis. 61
31658802 2019
31
Aortarctia: a rare manifestation of relapsing polychondritis. 61
31642903 2019
32
Imaging of Thoracic Wall Abnormalities. 61
31544369 2019
33
Miscellaneous Ocular Symptoms in a Case of Relapsing Polychondritis. 61
31663794 2019
34
Thoracic Manifestations of Ankylosing Spondylitis, Inflammatory Bowel Disease, and Relapsing Polychondritis. 61
31376894 2019
35
Tracheobronchial involvement of relapsing polychondritis. 61
31323366 2019
36
Recurrent auricular inflammation caused by Kimura's disease: reminiscent of the early phase of relapsing polychondritis? 61
31772756 2019
37
Long-Term Outcome of Metallic Stenting for Central Airway Involvement in Relapsing Polychondritis. 61
30910657 2019
38
Idiopathic Sclerosing Orbital Inflammation in a Relapsing Polychondritis Patient With Impaired Vision. 61
29384827 2019
39
Diagnosis of relapsing polychondritis in a patient with chronic cough and without nasal or auricular chondritis. 61
28720307 2019
40
Inflammatory Pseudotumor-Induced Proptosis in a Patient With Relapsing Polychondritis. 61
29389690 2019
41
Kikuchi-Fujimoto disease with relapsing polychondritis. 61
30690628 2019
42
Tracheobronchial Cobblestone in Relapsing Polychondritis. 61
31070864 2019
43
Correction to: Concomitant aortic valve replacement, mitral valve replacement, and coronary artery bypass grafting for aortic stenosis and mitral regurgitation in a patient with relapsing polychondritis. 61
31254224 2019
44
Clinical features of Chinese patients with relapsing polychondritis. 61
30315131 2019
45
Coincident relapsing polychondritis and IgG4-related disease: a diagnostic challenge. 61
31469124 2019
46
A Case of Relapsing Polychondritis Mimicking Hemophagocytic Lymphohistiocytosis After Propionibacterium acnes Infection. 61
29280824 2019
47
Relapsing polychondritis and focal segmental glomerulosclerosis: Coincidence or causality. 61
31351698 2019
48
Multimodal Imaging Report of Crystalline Keratopathy in Relapsing Polychondritis. 61
30969261 2019
49
Tofacitinib in steroid-dependent relapsing polychondritis. 61
29724732 2019
50
The relapsing polychondritis damage index (RPDAM): Development of a disease-specific damage score for relapsing polychondritis. 61
30448476 2019

Variations for Relapsing Polychondritis

Expression for Relapsing Polychondritis

Search GEO for disease gene expression data for Relapsing Polychondritis.

Pathways for Relapsing Polychondritis

Pathways related to Relapsing Polychondritis according to GeneCards Suite gene sharing:

(show top 50) (show all 53)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.99 TREM1 IL6 IL2 IL17A IL10 IFNG
2
Show member pathways
13.78 IL6 IL2 IL17A IL10 CXCL8 CSF3
3
Show member pathways
13.65 IL6 IL2 IL17A IL10 IFNG CXCL8
4
Show member pathways
13.53 IL6 IL2 IL17A IL10 IFNG CXCL8
5
Show member pathways
13.4 IL6 IL2 IL17A IL10 CXCL8 CSF3
6
Show member pathways
13.27 IL6 IL2 IL17A IL10 CXCL8 CSF3
7
Show member pathways
13.24 IL6 IL2 IL17A IL10 IFNG CXCL8
8
Show member pathways
13.06 TREM1 IL6 IL2 IL10 IFNG CXCL8
9
Show member pathways
12.86 IL6 IL2 IL17A IL10 IFNG CXCL8
10
Show member pathways
12.8 IL6 IL2 IFNG CXCL8 CCL2
11
Show member pathways
12.62 IL6 IL2 IL17A IL10 IFNG
12
Show member pathways
12.61 IL6 IL2 IL17A IL10 IFNG
13 12.58 IL2 IL17A IL10 IFNG CCL2
14
Show member pathways
12.58 IL6 IL2 IL17A IL10 IFNG CCL2
15
Show member pathways
12.35 IL6 IL2 IL10 IFNG CSF3
16
Show member pathways
12.34 IL6 IL2 IFNG CRP CCL2
17
Show member pathways
12.26 IL6 IL2 IL17A IL10 IFNG CXCL8
18
Show member pathways
12.24 IL6 IL17A IFNG CXCL8 CSF3 CCL2
19
Show member pathways
12.22 IL6 IL2 IL10 CXCL8 CCL4 CCL2
20
Show member pathways
12.07 IL6 IL2 IL17A IL10 IFNG
21 12.02 IL6 IL2 IL10 CXCL8 CCL2
22 12.01 IL6 IL2 IFNG CXCL8 CCL2
23 11.97 IL6 IL2 IL10 IFNG CSF3
24 11.96 IL6 IL10 IFNG CXCL8
25 11.95 IL6 IL17A IL10 CXCL8 CCL2
26
Show member pathways
11.94 IL2 IFNG CCL4
27 11.93 IL6 IFNG ENO1
28 11.93 IL6 IL2 IL10 IFNG
29 11.91 IL6 IFNG CXCL8
30
Show member pathways
11.91 IL6 IL17A CXCL8 CSF3
31 11.88 IL6 CXCL8 CCL2
32 11.84 IL6 IL2 IFNG CXCL8
33 11.83 IL6 IFNG CXCL8 CCL4
34 11.82 IL2 IL17A IL10 IFNG
35 11.82 IL6 IL17A IFNG CXCL8 CCL2
36 11.78 IL6 IL2 IL10 IFNG
37 11.76 IL6 IL10 CXCL8
38
Show member pathways
11.76 IL2 IFNG CXCL8
39
Show member pathways
11.69 IL6 IL2 IFNG CXCL8
40 11.61 IL6 IFNG CXCL8
41 11.58 IL6 IL2 IFNG
42 11.57 IL6 CXCL8 CSF3 CCL4 CCL2
43 11.53 IL2 IL10 IFNG
44 11.43 IL6 IL10 IFNG
45 11.39 IL6 CXCL8 CCL2
46 11.35 IL6 IL17A IFNG
47 11.35 IL6 IL2 IL17A IL10 IFNG CCL4
48 11.32 IL6 IL10 CXCL8 CSF3 CCL4 CCL2
49 11.25 IL2 IL10 IFNG
50 11.12 IL6 IL2 IL10 IFNG CSF3

GO Terms for Relapsing Polychondritis

Cellular components related to Relapsing Polychondritis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.77 TREM1 MATN1 IL6 IL2 IL17A IL10
2 extracellular space GO:0005615 9.44 MATN1 IL6 IL2 IL17A IL10 IFNG

Biological processes related to Relapsing Polychondritis according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of DNA-binding transcription factor activity GO:0051091 9.76 IL6 IL10 CSF3
2 response to virus GO:0009615 9.75 IFNG ENO1 CCL4
3 cellular response to lipopolysaccharide GO:0071222 9.72 IL6 IL10 CXCL8 CSF3 CCL2
4 neutrophil chemotaxis GO:0030593 9.7 CXCL8 CCL4 CCL2
5 inflammatory response GO:0006954 9.7 IL6 IL17A IL10 CXCL8 CRP CCL4
6 chemokine-mediated signaling pathway GO:0070098 9.67 CXCL8 CCL4 CCL2
7 cellular response to interleukin-1 GO:0071347 9.67 IL17A CXCL8 CCL4 CCL2
8 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.65 IL6 IL2 IFNG
9 immune response GO:0006955 9.61 IL6 IL2 IL17A IL10 IFNG CXCL8
10 regulation of regulatory T cell differentiation GO:0045589 9.6 IL2 IFNG
11 positive regulation of nitric-oxide synthase biosynthetic process GO:0051770 9.59 IFNG CCL2
12 monocyte chemotaxis GO:0002548 9.58 IL6 CCL4 CCL2
13 positive regulation of immunoglobulin secretion GO:0051024 9.57 IL6 IL2
14 PERK-mediated unfolded protein response GO:0036499 9.56 CXCL8 CCL2
15 humoral immune response GO:0006959 9.56 TREM1 IL6 IFNG CCL2
16 response to molecule of bacterial origin GO:0002237 9.55 IL10 CXCL8
17 positive regulation of MHC class II biosynthetic process GO:0045348 9.54 IL10 IFNG
18 negative regulation of lipid storage GO:0010888 9.51 IL6 CRP
19 positive regulation of NMDA glutamate receptor activity GO:1904783 9.46 IFNG CCL2
20 positive regulation of interleukin-23 production GO:0032747 9.43 IL17A IFNG
21 cytokine-mediated signaling pathway GO:0019221 9.23 IL6 IL2 IL17A IL10 CXCL8 CSF3

Molecular functions related to Relapsing Polychondritis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chemokine activity GO:0008009 9.33 CXCL8 CCL4 CCL2
2 cytokine activity GO:0005125 9.28 IL6 IL2 IL17A IL10 IFNG CXCL8
3 growth factor activity GO:0008083 9.26 IL6 IL2 IL10 CSF3

Sources for Relapsing Polychondritis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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