MCID: RLP001
MIFTS: 56

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 53 59 37 15
Polychondritis, Relapsing 44 73
Chronic Atrophic Polychondritis 53
Chondromalacia, Systemic 12
Recurrent Polychondritis 53
Polychondritis Relapsing 55

Characteristics:

Orphanet epidemiological data:

59
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 : 53 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 rheumatoid arthritis. 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 Antirheumatic Agents have been mentioned in the context of this disorder. Affiliated tissues include heart, bone and eye, and related phenotypes are cataract and arthritis

Wikipedia : 76 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 289)
# Related Disease Score Top Affiliating Genes
1 meningitis 30.2 CRP IFNG IL6
2 rheumatoid arthritis 30.0 COMP CRP IFNG IL6
3 ulcerative colitis 29.9 CRP IFNG IL6
4 autoimmune disease 29.9 ENO1 IFNG IL6
5 psoriatic arthritis 29.7 COMP CRP IL6
6 polyarteritis nodosa 29.7 CRP IL6
7 human immunodeficiency virus infectious disease 29.7 IFNG IL6
8 conjunctivitis 29.6 IFNG IL6
9 bacterial meningitis 29.6 CRP IL6
10 thrombocytosis 29.5 CRP IL6
11 synovitis 29.5 COMP CRP IL6
12 central nervous system vasculitis 29.5 CRP IFNG IL6
13 pericarditis 29.5 CRP IFNG IL6
14 pneumonia 29.4 CRP IL6 TREM1
15 vascular disease 29.3 CRP IL6 MGP
16 magic syndrome 11.6
17 autoimmune inner ear disease 11.3
18 corticosteroid-sensitive aseptic abscesses 11.3
19 myelodysplastic syndrome 10.4
20 arthritis 10.4
21 vasculitis 10.4
22 encephalitis 10.4
23 aortitis 10.3
24 limbic encephalitis 10.3
25 scleritis 10.3
26 lupus erythematosus 10.3
27 systemic lupus erythematosus 10.2
28 achondrogenesis, type ii 10.2 COMP MATN1
29 glomerulonephritis 10.2
30 meningoencephalitis 10.2
31 dementia 10.2
32 spondylitis 10.2
33 tenosynovitis 10.2 COMP CRP
34 cartilage disease 10.2 COMP CRP
35 tendinitis 10.2 COMP CRP
36 tuberculous peritonitis 10.2 CRP IFNG
37 spondyloarthropathy 1 10.1
38 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
39 colitis 10.1
40 respiratory failure 10.1
41 psoriasis 10.1
42 diffuse cutaneous systemic sclerosis 10.1 COMP TREM1
43 pleurisy 10.1 CRP IFNG
44 severe acute respiratory syndrome 10.1 CRP IFNG
45 alopecia 10.1
46 lymphoma 10.1
47 aseptic meningitis 10.1
48 uveitis 10.1
49 antiphospholipid syndrome 10.1
50 pyoderma 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:

59 32 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract 59 32 hallmark (90%) Very frequent (99-80%) HP:0000518
2 arthritis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001369
3 sensorineural hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000407
4 renal insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0000083
5 proteinuria 59 32 occasional (7.5%) Occasional (29-5%) HP:0000093
6 cranial nerve paralysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0006824
7 laryngomalacia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001601
8 arthralgia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002829
9 dyspnea 59 32 frequent (33%) Frequent (79-30%) HP:0002094
10 hepatitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0012115
11 limitation of joint mobility 59 32 frequent (33%) Frequent (79-30%) HP:0001376
12 biparietal narrowing 59 32 occasional (7.5%) Occasional (29-5%) HP:0004422
13 alopecia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001596
14 glomerulopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0100820
15 keratitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000491
16 hematuria 59 32 occasional (7.5%) Occasional (29-5%) HP:0000790
17 vertigo 59 32 frequent (33%) Frequent (79-30%) HP:0002321
18 purpura 59 32 occasional (7.5%) Occasional (29-5%) HP:0000979
19 atelectasis 59 32 frequent (33%) Frequent (79-30%) HP:0100750
20 erythema 59 32 occasional (7.5%) Occasional (29-5%) HP:0010783
21 pericarditis 59 32 frequent (33%) Frequent (79-30%) HP:0001701
22 macule 59 32 occasional (7.5%) Occasional (29-5%) HP:0012733
23 myocarditis 59 32 occasional (7.5%) Occasional (29-5%) HP:0012819
24 conjunctivitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000509
25 cough 59 32 frequent (33%) Frequent (79-30%) HP:0012735
26 anteriorly placed anus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001545
27 gangrene 59 32 occasional (7.5%) Occasional (29-5%) HP:0100758
28 uveitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000554
29 abnormal pattern of respiration 59 32 occasional (7.5%) Occasional (29-5%) HP:0002793
30 thrombophlebitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004418
31 recurrent aphthous stomatitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0011107
32 episcleritis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100534
33 scleritis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100532
34 large vessel vasculitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0005310
35 chondritis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100662
36 chondritis of pinna 59 32 hallmark (90%) Very frequent (99-80%) HP:0200047
37 abnormality of the aortic valve 59 Frequent (79-30%)
38 venous thrombosis 59 Occasional (29-5%)
39 abnormality of the endocardium 59 Occasional (29-5%)
40 inflammatory abnormality of the eye 59 Occasional (29-5%)
41 aneurysm 59 Occasional (29-5%)
42 dilatation 32 occasional (7.5%) HP:0002617
43 abnormal aortic valve morphology 32 frequent (33%) HP:0001646
44 abnormal endocardium morphology 32 occasional (7.5%) HP:0004306

MGI Mouse Phenotypes related to Relapsing Polychondritis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 skeleton MP:0005390 9.1 COMP IFNG IL6 MATN1 MGP TREM1

Drugs & Therapeutics for Relapsing Polychondritis

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Abatacept Approved Phase 1 332348-12-6 10237
2 Antirheumatic Agents Phase 1
3 Immunologic Factors Phase 1
4 Immunosuppressive Agents Phase 1

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

Search NIH Clinical Center for Relapsing Polychondritis

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: polychondritis, relapsing

Genetic Tests for Relapsing Polychondritis

Anatomical Context for Relapsing Polychondritis

MalaCards organs/tissues related to Relapsing Polychondritis:

41
Heart, Bone, Eye, Skin, Kidney, Lung, B Cells

Publications for Relapsing Polychondritis

Articles related to Relapsing Polychondritis:

(show top 50) (show all 843)
# Title Authors Year
1
Remission of relapsing polychondritis after successful treatment of myelodysplastic syndrome with azacitidine: a case and review of the literature. ( 29715182 )
2018
2
Incidental Case of Relapsing Polychondritis Detected by 18F-FDG PET/CT. ( 29189373 )
2018
3
Persistent unilateral ulcer of the ear as the first manifestation of relapsing polychondritis. ( 29770469 )
2018
4
Inflammatory Pseudotumor-Induced Proptosis in a Patient With Relapsing Polychondritis. ( 29389690 )
2018
5
Relapsing polychondritis: a diagnosis not to be missed. ( 29718381 )
2018
6
Relapsing polychondritis as a presenting feature of acute myeloid leukaemia. ( 29048114 )
2018
7
Idiopathic Sclerosing Orbital Inflammation in a Relapsing Polychondritis Patient With Impaired Vision. ( 29384827 )
2018
8
Relapsing Polychondritis. ( 29719184 )
2018
9
Pleocytosis in a patient with relapsing polychondritis accompanied by meningoencephalitis: a case report. ( 29699514 )
2018
10
Tofacitinib in steroid-dependent relapsing polychondritis. ( 29724732 )
2018
11
Refractory relapsing polychondritis: challenges and solutions. ( 29391837 )
2018
12
Efficacy and safety of biologics in relapsing polychondritis: a French national multicentre study. ( 29535124 )
2018
13
Hypocomplementemic urticarial vasculitis occurring in a patient with relapsing polychondritis. ( 29779215 )
2018
14
Red-eared zebra diagnosis: Case of relapsing polychondritis. ( 29760256 )
2018
15
Limbic encephalitis with relapsing polychondritis: persistent white matter lesions and brain atrophy. ( 30426814 )
2018
16
Case report of mixed-type autoimmune hemolytic anemia in a patient with relapsing polychondritis. ( 30290676 )
2018
17
Relapsing Polychondritis with Meningoencephalitis Refractory to Immunosuppressant Therapy. ( 30402308 )
2018
18
Severe panuveitis with relapsing polychondritis. ( 30050999 )
2018
19
Bilateral Panuveitis and Keratitis as First Presentation of Relapsing Polychondritis. ( 30193073 )
2018
20
Patient Perception of Disease-Related Symptoms and Complications in Relapsing Polychondritis. ( 29245173 )
2018
21
Relapsing polychondritis case. ( 30002020 )
2018
22
Relapsing Polychondritis following Treatment with Secukinumab for Ankylosing Spondylitis: Case Report and Review of the Literature. ( 30057845 )
2018
23
Relapsing Polychondritis: An Updated Review. ( 30072598 )
2018
24
Observational study and brief analysis of diagnostic criteria in relapsing polychondritis. ( 30084004 )
2018
25
Relapsing Polychondritis Manifesting as Tracheal and Costochondral Inflammation on Magnetic Resonance Imaging. ( 30106793 )
2018
26
Propionate-producing bacteria in the intestine may associate with skewed responses of IL10-producing regulatory T cells in patients with relapsing polychondritis. ( 30235279 )
2018
27
Clinical features of Chinese patients with relapsing polychondritis. ( 30315131 )
2018
28
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
29
Relapsing polychondritis: state of the art on clinical practice guidelines. ( 30402273 )
2018
30
The relapsing polychondritis damage index (RPDAM): Development of a disease-specific damage score for relapsing polychondritis. ( 30448476 )
2018
31
Relapsing Polychondritis ( 28613778 )
2017
32
Efficacy of tocilizumab highlighted by FDG-PET/CT in a patient with relapsing polychondritis-associated aortitis. ( 28965131 )
2017
33
18F-FDG PET/CT is an ideal imaging modality for the early diagnosis of relapsing polychondritis: A case report. ( 28746194 )
2017
34
Relapsing polychondritis: prevalence of cardiovascular diseases and its risk factors, and general disease features according to gender. ( 28743361 )
2017
35
Organ Involvement Pattern Suggests Subgroups within Relapsing Polychondritis. ( 28941194 )
2017
36
Use of veno-arterial extracorporeal membrane oxygenation in a case of tracheal injury repair in a patient with severe relapsing polychondritis. ( 29268558 )
2017
37
Relapsing Polychondritis with Myelodysplastic Syndrome: A Case Report. ( 28215949 )
2017
38
Relapsing Polychondritis is a Lung Disease: My Story. ( 29283700 )
2017
39
Diagnosis of relapsing polychondritis in a patient with chronic cough and without nasal or auricular chondritis. ( 28720307 )
2017
40
Relapsing polychondritis associated with psoriasis vulgaris successfully treated with adalimumab: A case report with published work review. ( 28266051 )
2017
41
Letter to the Editor: Central Nervous System Involvement in Relapsing Polychondritis, a Rare and Difficult Diagnosis: a Case Report. ( 28480667 )
2017
42
Response assessment in relapsing polychondritis with (18)F-FDG PET/CT. ( 28131697 )
2017
43
Relapsing Polychondritis Presented with Encephalitis Followed by Brain Atrophy. ( 28243168 )
2017
44
Relapsing polychondritis: a clinical review for rheumatologists. ( 29126262 )
2017
45
Successful treatment with tocilizumab for refractory scleritis associated with relapsing polychondritis. ( 28120637 )
2017
46
Relapsing Polychondritis With Increased Bone Marrow Signal on Magnetic Resonance Imaging in a 13-Year-Old Girl. ( 28953580 )
2017
47
Intralesional corticosteroid therapy for relapsing polychondritis. ( 28411788 )
2017
48
An unusual cause of fever of unknown origin with enlarged lymph nodes-relapsing polychondritis: A case report. ( 29145318 )
2017
49
Sudden Respiratory Failure due to Tracheobronchomalacia by Relapsing Polychondritis, Successfully Rescued by Multiple Metallic Stenting and Tracheostomy. ( 29021454 )
2017
50
The Role of Computed Tomography in the Diagnosis of Relapsing Polychondritis. ( 28558922 )
2017

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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