MCID: RLP001
MIFTS: 55

Relapsing Polychondritis

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

Aliases & Classifications for Relapsing Polychondritis

MalaCards integrated aliases for Relapsing Polychondritis:

Name: Relapsing Polychondritis 12 54 60 38 15 17
Polychondritis, Relapsing 45 74
Chronic Atrophic Polychondritis 54
Chondromalacia, Systemic 12
Recurrent Polychondritis 54
Polychondritis Relapsing 56

Characteristics:

Orphanet epidemiological data:

60
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:



Summaries for Relapsing Polychondritis

NIH Rare Diseases : 54 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 meningitis and coronary stenosis. An important gene associated with Relapsing Polychondritis is COMP (Cartilage Oligomeric Matrix Protein), and among its related pathways/superpathways are Selenium Micronutrient Network and ECM proteoglycans. The drugs Abatacept and Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include heart, bone and eye, and related phenotypes are cataract and arthritis

Wikipedia : 77 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 299)
# Related Disease Score Top Affiliating Genes
1 meningitis 30.1 CRP IFNG IL6
2 coronary stenosis 30.0 CRP IL6
3 polyarteritis nodosa 29.9 CRP IL6
4 ulcerative colitis 29.9 CRP IFNG IL6
5 rheumatoid arthritis 29.8 COMP CRP IFNG IL6
6 autoimmune disease 29.8 ENO1 IFNG IL6
7 human immunodeficiency virus infectious disease 29.7 IFNG IL6
8 psoriatic arthritis 29.7 COMP CRP IL6
9 conjunctivitis 29.6 IFNG IL6
10 bacterial meningitis 29.5 CRP IL6
11 thrombocytosis 29.5 CRP IL6
12 synovitis 29.4 COMP CRP IL6
13 central nervous system vasculitis 29.4 CRP IFNG IL6
14 pericarditis 29.4 CRP IFNG IL6
15 temporal arteritis 29.4 CRP IFNG IL6
16 pneumonia 29.3 CRP IL6 TREM1
17 vascular disease 29.2 CRP IL6 MGP
18 behcet syndrome 29.0 CRP ENO1 IFNG IL6
19 magic syndrome 11.6
20 autoimmune inner ear disease 11.3
21 corticosteroid-sensitive aseptic abscesses 11.3
22 myelodysplastic syndrome 10.4
23 arthritis 10.4
24 vasculitis 10.4
25 encephalitis 10.4
26 aortitis 10.3
27 achondrogenesis, type ii 10.3 COMP MATN1
28 limbic encephalitis 10.3
29 scleritis 10.3
30 lupus erythematosus 10.3
31 tenosynovitis 10.3 COMP CRP
32 cartilage disease 10.3 COMP CRP
33 tendinitis 10.3 COMP CRP
34 systemic lupus erythematosus 10.3
35 tuberculous peritonitis 10.2 CRP IFNG
36 glomerulonephritis 10.2
37 meningoencephalitis 10.2
38 dementia 10.2
39 spondylitis 10.2
40 psoriasis 10.2
41 diffuse cutaneous systemic sclerosis 10.2 COMP TREM1
42 pleurisy 10.2 CRP IFNG
43 spondyloarthropathy 1 10.2
44 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
45 colitis 10.2
46 respiratory failure 10.2
47 uveitis 10.2
48 severe acute respiratory syndrome 10.2 CRP IFNG
49 suppurative cholangitis 10.2 CRP TREM1
50 psoriasis 7 10.1

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:

60 33 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract 60 33 hallmark (90%) Very frequent (99-80%) HP:0000518
2 arthritis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001369
3 large vessel vasculitis 60 33 hallmark (90%) Very frequent (99-80%) HP:0005310
4 chondritis 60 33 hallmark (90%) Very frequent (99-80%) HP:0100662
5 chondritis of pinna 60 33 hallmark (90%) Very frequent (99-80%) HP:0200047
6 dyspnea 60 33 frequent (33%) Frequent (79-30%) HP:0002094
7 limitation of joint mobility 60 33 frequent (33%) Frequent (79-30%) HP:0001376
8 vertigo 60 33 frequent (33%) Frequent (79-30%) HP:0002321
9 atelectasis 60 33 frequent (33%) Frequent (79-30%) HP:0100750
10 pericarditis 60 33 frequent (33%) Frequent (79-30%) HP:0001701
11 cough 60 33 frequent (33%) Frequent (79-30%) HP:0012735
12 abnormal aortic valve morphology 33 frequent (33%) HP:0001646
13 sensorineural hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000407
14 renal insufficiency 60 33 occasional (7.5%) Occasional (29-5%) HP:0000083
15 proteinuria 60 33 occasional (7.5%) Occasional (29-5%) HP:0000093
16 cranial nerve paralysis 60 33 occasional (7.5%) Occasional (29-5%) HP:0006824
17 laryngomalacia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001601
18 arthralgia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002829
19 hepatitis 60 33 occasional (7.5%) Occasional (29-5%) HP:0012115
20 biparietal narrowing 60 33 occasional (7.5%) Occasional (29-5%) HP:0004422
21 alopecia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001596
22 glomerulopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0100820
23 keratitis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000491
24 hematuria 60 33 occasional (7.5%) Occasional (29-5%) HP:0000790
25 purpura 60 33 occasional (7.5%) Occasional (29-5%) HP:0000979
26 erythema 60 33 occasional (7.5%) Occasional (29-5%) HP:0010783
27 macule 60 33 occasional (7.5%) Occasional (29-5%) HP:0012733
28 myocarditis 60 33 occasional (7.5%) Occasional (29-5%) HP:0012819
29 conjunctivitis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000509
30 anteriorly placed anus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001545
31 gangrene 60 33 occasional (7.5%) Occasional (29-5%) HP:0100758
32 uveitis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000554
33 abnormal pattern of respiration 60 33 occasional (7.5%) Occasional (29-5%) HP:0002793
34 thrombophlebitis 60 33 occasional (7.5%) Occasional (29-5%) HP:0004418
35 recurrent aphthous stomatitis 60 33 occasional (7.5%) Occasional (29-5%) HP:0011107
36 episcleritis 60 33 occasional (7.5%) Occasional (29-5%) HP:0100534
37 scleritis 60 33 occasional (7.5%) Occasional (29-5%) HP:0100532
38 dilatation 33 occasional (7.5%) HP:0002617
39 abnormal endocardium morphology 33 occasional (7.5%) HP:0004306
40 abnormality of the aortic valve 60 Frequent (79-30%)
41 venous thrombosis 60 Occasional (29-5%)
42 abnormality of the endocardium 60 Occasional (29-5%)
43 inflammatory abnormality of the eye 60 Occasional (29-5%)
44 aneurysm 60 Occasional (29-5%)

MGI Mouse Phenotypes related to Relapsing Polychondritis:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 skeleton MP:0005390 9.02 COMP IFNG IL6 MATN1 MGP

Drugs & Therapeutics for Relapsing Polychondritis

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

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Abatacept Approved Phase 1 332348-12-6 10237
2 Immunologic Factors Phase 1
3 Antirheumatic Agents Phase 1
4 Immunosuppressive Agents Phase 1
5 Antibodies, Antineutrophil Cytoplasmic
6 Immunoglobulins
7 Antibodies

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Tocilizumab for Relapsing Polychondritis Withdrawn NCT01104480 Phase 2 Tocilizumab
2 Study on the Safety of Abatacept in Relapsing Polychondritis Completed NCT01272856 Phase 1 Abatacept
3 Single Patient Study to Treat Relapsing Polychondritis With Tocilizumab Completed NCT01041248 Not Applicable Tocilizumab
4 Physical Training in Patients With Relapsing Polychondritis Recruiting NCT03092141 Not Applicable
5 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 74 / NDF-RT 52 :


Cochrane evidence based reviews: polychondritis, relapsing

Genetic Tests for Relapsing Polychondritis

Anatomical Context for Relapsing Polychondritis

MalaCards organs/tissues related to Relapsing Polychondritis:

42
Heart, Bone, Eye, Kidney, Skin, Thyroid, B Cells

Publications for Relapsing Polychondritis

Articles related to Relapsing Polychondritis:

(show top 50) (show all 853)
# Title Authors Year
1
Bilateral Anterior Uveitis Revealing Relapsing Polychondritis ( 31055895 )
2019
2
Multimodal Imaging Report of Crystalline Keratopathy in Relapsing Polychondritis. ( 30969261 )
2019
3
Relapsing Polychondritis Associated With Psoriasis Vulgaris. ( 30614891 )
2019
4
Kikuchi-Fujimoto disease with relapsing polychondritis. ( 30690628 )
2019
5
Clinical Characteristics of Relapsing Polychondritis: A Report of 8 Cases in Japan. ( 30853688 )
2019
6
Relapsing polychondritis - analysis of symptoms and criteria. ( 30858626 )
2019
7
A case of tracheobronchomalacia due to relapsing polychondritis treated with Montgomery T-tube. ( 30886718 )
2019
8
Long-term Outcome of Metallic Stenting For Central Airway Involvement In Relapsing Polychondritis. ( 30910657 )
2019
9
Concomitant aortic valve replacement, mitral valve replacement, and coronary artery bypass grafting for aortic stenosis and mitral regurgitation in a patient with relapsing polychondritis. ( 31041726 )
2019
10
Patient Perceived Burden of Disease in Pediatric Relapsing Polychondritis. ( 31043550 )
2019
11
Tracheobronchial cobblestone in relapsing polychondritis. ( 31070864 )
2019
12
Ocular inflammation associated with relapsing polychondritis in Japanese patients: a review of 11 patients. ( 31077023 )
2019
13
Aseptic meningitis in relapsing polychondritis: a case report and literature review. ( 28361234 )
2018
14
Limbic encephalitis with relapsing polychondritis: persistent white matter lesions and brain atrophy. ( 30426814 )
2018
15
Case report of mixed-type autoimmune hemolytic anemia in a patient with relapsing polychondritis. ( 30290676 )
2018
16
Hypocomplementemic urticarial vasculitis occurring in a patient with relapsing polychondritis. ( 29779215 )
2018
17
Relapsing Polychondritis Is a Lung Disease: My Story. ( 29283700 )
2018
18
Relapsing Polychondritis with Meningoencephalitis Refractory to Immunosuppressant Therapy. ( 30402308 )
2018
19
Pleocytosis in a patient with relapsing polychondritis accompanied by meningoencephalitis: a case report. ( 29699514 )
2018
20
Remission of relapsing polychondritis after successful treatment of myelodysplastic syndrome with azacitidine: a case and review of the literature. ( 29715182 )
2018
21
Severe panuveitis with relapsing polychondritis. ( 30050999 )
2018
22
Bilateral Panuveitis and Keratitis as First Presentation of Relapsing Polychondritis. ( 30193073 )
2018
23
Organ involvement pattern suggests subgroups within relapsing polychondritis: comment on the article by Dion et al. ( 28941194 )
2018
24
Relapsing Polychondritis With Increased Bone Marrow Signal on Magnetic Resonance Imaging in a 13-Year-Old Girl. ( 28953580 )
2018
25
Relapsing polychondritis as a presenting feature of acute myeloid leukaemia. ( 29048114 )
2018
26
Relapsing polychondritis: a clinical review for rheumatologists. ( 29126262 )
2018
27
Incidental Case of Relapsing Polychondritis Detected by 18F-FDG PET/CT. ( 29189373 )
2018
28
Severe Aortic Valve Regurgitation in Relapsing Polychondritis. ( 29200026 )
2018
29
FDG PET-CT as a powerful tool for diagnosing and monitoring treatment outcomes of relapsing polychondritis. ( 29234846 )
2018
30
Patient Perception of Disease-Related Symptoms and Complications in Relapsing Polychondritis. ( 29245173 )
2018
31
News on Relapsing Polychondritis: The Patient's Experience. ( 29245187 )
2018
32
Idiopathic Sclerosing Orbital Inflammation in a Relapsing Polychondritis Patient With Impaired Vision. ( 29384827 )
2018
33
Inflammatory Pseudotumor-Induced Proptosis in a Patient With Relapsing Polychondritis. ( 29389690 )
2018
34
Refractory relapsing polychondritis: challenges and solutions. ( 29391837 )
2018
35
Efficacy and safety of biologics in relapsing polychondritis: a French national multicentre study. ( 29535124 )
2018
36
Relapsing polychondritis: a diagnosis not to be missed. ( 29718381 )
2018
37
Relapsing Polychondritis. ( 29719184 )
2018
38
Tofacitinib in steroid-dependent relapsing polychondritis. ( 29724732 )
2018
39
Red-eared zebra diagnosis: Case of relapsing polychondritis. ( 29760256 )
2018
40
Persistent unilateral ulcer of the ear as the first manifestation of relapsing polychondritis. ( 29770469 )
2018
41
Relapsing polychondritis case. ( 30002020 )
2018
42
Relapsing Polychondritis following Treatment with Secukinumab for Ankylosing Spondylitis: Case Report and Review of the Literature. ( 30057845 )
2018
43
Relapsing Polychondritis: An Updated Review. ( 30072598 )
2018
44
Observational study and brief analysis of diagnostic criteria in relapsing polychondritis. ( 30084004 )
2018
45
Relapsing Polychondritis Manifesting as Tracheal and Costochondral Inflammation on Magnetic Resonance Imaging. ( 30106793 )
2018
46
Propionate-producing bacteria in the intestine may associate with skewed responses of IL10-producing regulatory T cells in patients with relapsing polychondritis. ( 30235279 )
2018
47
Clinical features of Chinese patients with relapsing polychondritis. ( 30315131 )
2018
48
Relapsing polychondritis patients were divided into three subgroups: patients with respiratory involvement (R subgroup), patients with auricular involvement (A subgroup), and overlapping patients with both involvements (O subgroup), and each group had distinctive clinical characteristics. ( 30334986 )
2018
49
Relapsing polychondritis: state of the art on clinical practice guidelines. ( 30402273 )
2018
50
The relapsing polychondritis damage index (RPDAM): Development of a disease-specific damage score for relapsing polychondritis. ( 30448476 )
2018

Variations for Relapsing Polychondritis

Expression for Relapsing Polychondritis

Search GEO for disease gene expression data for Relapsing Polychondritis.

Pathways for Relapsing Polychondritis

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 matrix GO:0031012 9.43 COMP MATN1 MGP
2 extracellular space GO:0005615 9.43 COMP CRP ENO1 IFNG IL6 MATN1
3 collagen-containing extracellular matrix GO:0062023 9.33 COMP MATN1 MGP
4 extracellular region GO:0005576 9.17 COMP CRP IFNG IL6 MATN1 MGP

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

# Name GO ID Score Top Affiliating Genes
1 acute-phase response GO:0006953 9.26 CRP IL6
2 regulation of bone mineralization GO:0030500 9.16 MATN1 MGP
3 negative regulation of lipid storage GO:0010888 8.96 CRP IL6
4 humoral immune response GO:0006959 8.8 IFNG IL6 TREM1

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

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.26 COMP CRP MATN1 MGP
2 extracellular matrix structural constituent GO:0005201 8.8 COMP MATN1 MGP

Sources for Relapsing Polychondritis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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