MCID: RLP001
MIFTS: 51

Relapsing Polychondritis

Categories: Rare diseases, Nephrological diseases, Bone diseases

Aliases & Classifications for Relapsing Polychondritis

MalaCards integrated aliases for Relapsing Polychondritis:

Name: Relapsing Polychondritis 12 50 56 14
Polychondritis, Relapsing 42 69
Chronic Atrophic Polychondritis 50
Chondromalacia, Systemic 12
Recurrent Polychondritis 50
Polychondritis Relapsing 52

Characteristics:

Orphanet epidemiological data:

56
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 : 50 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. last updated: 4/21/2015

MalaCards based summary : Relapsing Polychondritis, also known as polychondritis, relapsing, is related to polyarteritis nodosa and erythema elevatum diutinum, and has symptoms including hematuria, proteinuria and alopecia. An important gene associated with Relapsing Polychondritis is COMP (Cartilage Oligomeric Matrix Protein), and among its related pathways/superpathways are T cell receptor signaling pathway and IL-17 Family Signaling Pathways. The drugs Abatacept and Antirheumatic Agents have been mentioned in the context of this disorder. Affiliated tissues include heart, bone and eye.

Wikipedia : 72 Relapsing polychondritis is a multi-systemic condition characterized by inflammation and deterioration... 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 264)
id Related Disease Score Top Affiliating Genes
1 polyarteritis nodosa 30.1 CRP IFNG
2 erythema elevatum diutinum 30.0 CRP IL6
3 lymphoma 29.6 IFNG IL5 IL6
4 rheumatoid arthritis 29.3 COMP CRP IFNG IL6
5 magic syndrome 11.3
6 autoimmune inner ear disease 11.0
7 corticosteroid-sensitive aseptic abscesses 11.0
8 smed strudwick type 10.6 COMP MATN1
9 cerebral hemorrhage 10.5 COMP CRP
10 neuronal ceroid-lipofuscinoses 10.5 COMP CRP
11 gastroschisis 10.5 IFNG IL5
12 x-linked intellectual disability, van esch type 10.4 IFNG IL5
13 cholesteatoma of middle ear 10.4 IFNG IL5
14 hypereosinophilic syndrome 10.4 IFNG IL5
15 acute gonococcal prostatitis 10.4 IFNG IL5
16 hypothyroidism due to deficient transcription factors involved in pituitary development or function 10.4 IFNG IL5
17 fibrous histiocytoma 10.4 IFNG IL5
18 solitary cyst of breast 10.4 CRP IL5
19 louping ill 10.4 CRP IFNG
20 vulvar sarcoma 10.3 COMP IL6
21 signet ring cell adenocarcinoma 10.3 CRP IL5
22 acute necrotizing encephalopathy type 1 10.3 IFNG IL5
23 loiasis 10.3 IFNG IL5
24 lymphocytic colitis 10.3 IFNG IL6
25 pasteurellosis 10.3 IFNG IL6
26 whistling face syndrome, recessive form 10.3 CRP IL5
27 atelosteogenesis ii 10.3 COMP IL6
28 herpangina 10.3 IFNG IL6
29 collagenopathy type 2 alpha 1 10.3 CRP IL6
30 acute contagious conjunctivitis 10.3 IFNG IL5
31 crystal arthropathies 10.3 CRP IL6
32 shoulder impingement syndrome 10.3 CRP IL6
33 brachydactyly-distal symphalangism syndrome 10.3 CRP IL6
34 epstein-barr virus hepatitis 10.3 CRP IL6
35 cyclosporiasis 10.3 IFNG IL6
36 x-linked dominant intellectual disability-epilepsy syndrome 10.3 CRP IL6
37 early-onset zonular cataract 10.3 IFNG IL6
38 cataract congenital autosomal dominant 10.3 CRP IL6
39 hepadnavirus infection 10.3 IFNG IL6
40 chronic diarrhea due to guanylate cyclase 2c overactivity 10.3 CRP IL6
41 malignant gastric granular cell tumor 10.3 CRP IL6
42 hemophagocytic lymphohistiocytosis 10.3 IFNG IL6
43 nodular nonsuppurative panniculitis 10.3 CRP IL6
44 central nervous system leiomyosarcoma 10.3 CRP IL6
45 lung occult large cell carcinoma 10.3 CRP IL6
46 dysphagia 10.3 IFNG IL6
47 cicatricial lagophthalmos 10.3 CRP IL6
48 ariboflavinosis 10.3 CRP IL6
49 diffuse glomerulonephritis 10.3 IFNG IL6
50 conduct disorder 10.2 IFNG IL6

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:

56 32 (show all 42)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hematuria 56 32 occasional (7.5%) Occasional (29-5%) HP:0000790
2 proteinuria 56 32 occasional (7.5%) Occasional (29-5%) HP:0000093
3 alopecia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001596
4 renal insufficiency 56 32 occasional (7.5%) Occasional (29-5%) HP:0000083
5 cataract 56 32 hallmark (90%) Very frequent (99-80%) HP:0000518
6 pericarditis 56 32 frequent (33%) Frequent (79-30%) HP:0001701
7 arthritis 56 32 hallmark (90%) Very frequent (99-80%) HP:0001369
8 dyspnea 56 32 frequent (33%) Frequent (79-30%) HP:0002094
9 purpura 56 32 occasional (7.5%) Occasional (29-5%) HP:0000979
10 cough 56 32 frequent (33%) Frequent (79-30%) HP:0012735
11 vertigo 56 32 frequent (33%) Frequent (79-30%) HP:0002321
12 conjunctivitis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000509
13 atelectasis 56 32 frequent (33%) Frequent (79-30%) HP:0100750
14 sensorineural hearing impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000407
15 gangrene 56 32 occasional (7.5%) Occasional (29-5%) HP:0100758
16 arthralgia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002829
17 erythema 56 32 occasional (7.5%) Occasional (29-5%) HP:0010783
18 myocarditis 56 32 occasional (7.5%) Occasional (29-5%) HP:0012819
19 laryngomalacia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001601
20 uveitis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000554
21 recurrent aphthous stomatitis 56 32 occasional (7.5%) Occasional (29-5%) HP:0011107
22 episcleritis 56 32 occasional (7.5%) Occasional (29-5%) HP:0100534
23 keratitis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000491
24 cranial nerve paralysis 56 32 occasional (7.5%) Occasional (29-5%) HP:0006824
25 anteriorly placed anus 56 32 occasional (7.5%) Occasional (29-5%) HP:0001545
26 biparietal narrowing 56 32 occasional (7.5%) Occasional (29-5%) HP:0004422
27 hepatitis 56 32 occasional (7.5%) Occasional (29-5%) HP:0012115
28 limitation of joint mobility 56 32 frequent (33%) Frequent (79-30%) HP:0001376
29 abnormality of the aortic valve 56 32 frequent (33%) Frequent (79-30%) HP:0001646
30 glomerulopathy 56 32 occasional (7.5%) Occasional (29-5%) HP:0100820
31 abnormality of the endocardium 56 32 occasional (7.5%) Occasional (29-5%) HP:0004306
32 macule 56 32 occasional (7.5%) Occasional (29-5%) HP:0012733
33 abnormal pattern of respiration 56 32 occasional (7.5%) Occasional (29-5%) HP:0002793
34 thrombophlebitis 56 32 occasional (7.5%) Occasional (29-5%) HP:0004418
35 large vessel vasculitis 56 32 hallmark (90%) Very frequent (99-80%) HP:0005310
36 scleritis 56 32 occasional (7.5%) Occasional (29-5%) HP:0100532
37 chondritis 56 32 hallmark (90%) Very frequent (99-80%) HP:0100662
38 chondritis of pinna 56 32 hallmark (90%) Very frequent (99-80%) HP:0200047
39 venous thrombosis 56 Occasional (29-5%)
40 inflammatory abnormality of the eye 56 Occasional (29-5%)
41 aneurysm 56 Occasional (29-5%)
42 dilatation 32 occasional (7.5%) HP:0002617

Drugs & Therapeutics for Relapsing Polychondritis

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


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

Interventional clinical trials:


id 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 Tocilizumab
4 Physical Training in Patients With Relapsing Polychondritis Recruiting NCT03092141

Search NIH Clinical Center for Relapsing Polychondritis

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: polychondritis, relapsing

Genetic Tests for Relapsing Polychondritis

Anatomical Context for Relapsing Polychondritis

MalaCards organs/tissues related to Relapsing Polychondritis:

39
Heart, Bone, Eye, Skin, Kidney, Neutrophil, Bone Marrow

Publications for Relapsing Polychondritis

Articles related to Relapsing Polychondritis:

(show top 50) (show all 621)
id Title Authors Year
1
Aortic involvement in relapsing polychondritis. ( 28528280 )
2017
2
Intralesional corticosteroid therapy for relapsing polychondritis. ( 28411788 )
2017
3
18F-FDG PET/CT is an ideal imaging modality for the early diagnosis of relapsing polychondritis: A case report. ( 28746194 )
2017
4
Successful treatment with tocilizumab for refractory scleritis associated with relapsing polychondritis. ( 28120637 )
2017
5
Relapsing Polychondritis With Airway Involvement: A Clinical Challenge. ( 28259367 )
2017
6
Relapsing polychondritis associated with psoriasis vulgaris successfully treated with adalimumab: A case report with published work review. ( 28266051 )
2017
7
Sustained response to tocilizumab in a patient with relapsing polychondritis complicated by aortitis. ( 28229816 )
2017
8
Response assessment in relapsing polychondritis with (18)F-FDG PET/CT. ( 28131697 )
2017
9
Aseptic meningitis in relapsing polychondritis: a case report and literature review. ( 28361234 )
2017
10
Relapsing polychondritis: prevalence of cardiovascular diseases and its risk factors, and general disease features according to gender. ( 28743361 )
2017
11
Visual loss in relapsing polychondritis: rapid progression of orbital inflammation. ( 28548714 )
2017
12
Three-dimensional imaging forced oscillation technique to assess position-dependent airway obstruction in relapsing polychondritis: A case report. ( 28012498 )
2017
13
Relapsing Polychondritis with Myelodysplastic Syndrome: A Case Report. ( 28215949 )
2017
14
Meningeal plasma cell granuloma in the early stage of relapsing polychondritis. ( 28552866 )
2017
15
Relapsing Polychondritis With Increased Bone Marrow Signal on Magnetic Resonance Imaging in a 13-Year-Old Girl. ( 28953580 )
2017
16
Rapid corneal thinning and perforated ulcerative keratitis in a patient with relapsing polychondritis. ( 28331873 )
2017
17
Calcified cauliflower ear in relapsing polychondritis. ( 28432170 )
2017
18
Relapsing polychondritis as an unusual cause of multiple cranial nerve palsies-A Case report. ( 28093782 )
2017
19
Successful Treatment of Central Nervous System Vasculitis Associated with Relapsing Polychondritis With Cyclophosphamide. ( 28502337 )
2017
20
Relapsing polychondritis: prevalence of cardiovascular diseases and its risk factors, and general disease features according to gender. ( 28262498 )
2017
21
Letter to the Editor: Central Nervous System Involvement in Relapsing Polychondritis, a Rare and Difficult Diagnosis: a Case Report. ( 28480667 )
2017
22
PET/CT Imaging in Fever of Unknown Origin: A Case of Relapsing Polychondritis. ( 28668816 )
2017
23
Clinical Value of FDG-PET/CT for the Evaluation of Rheumatic Diseases: Rheumatoid Arthritis, Polymyalgia Rheumatica, and Relapsing Polychondritis. ( 28583280 )
2017
24
Relapsing polychondritis: a chameleon among orphan diseases. ( 28364136 )
2017
25
Organ Involvement Pattern Suggests Subgroups within Relapsing Polychondritis. ( 28941194 )
2017
26
Image Gallery: Relapsing polychondritis associated with monoclonal gammopathy. ( 28098388 )
2017
27
Silent tracheobronchial chondritis in a patient with a delayed diagnosis of relapsing polychondritis. ( 28739564 )
2017
28
The Role of Computed Tomography in the Diagnosis of Relapsing Polychondritis. ( 28558922 )
2017
29
Relapsing polychondritis with meningoencephalitis. ( 28207003 )
2017
30
Relapsing Polychondritis ( 28613778 )
2017
31
Diagnosis of relapsing polychondritis in a patient with chronic cough and without nasal or auricular chondritis. ( 28720307 )
2017
32
Relapsing Polychondritis Presented with Encephalitis Followed by Brain Atrophy. ( 28243168 )
2017
33
Cutaneous manifestations of patients with relapsing polychondritis: an association with extracutaneous complications. ( 26780448 )
2016
34
A Case of Relapsing Polychondritis Initiating with Unexplained Fever. ( 26981127 )
2016
35
Efficacy of tocilizumab for psychiatric symptoms associated with relapsing polychondritis: the first case report and review of the literature. ( 27260262 )
2016
36
Leprosy with Atypical Skin Lesions Masquerading as Relapsing Polychondritis. ( 28116186 )
2016
37
A case report of Relapsing polychondritis. ( 27728688 )
2016
38
Callosal Disconnection Syndrome Associated with Relapsing Polychondritis. ( 27150878 )
2016
39
Relapsing Polychondritis Concomitant With Synovial Chondromatosis of the Temporomandibular Joint. ( 27292528 )
2016
40
Tocilizumab-induced mucosal ulcers in a patient with relapsing polychondritis: An adverse drug reaction? ( 27139166 )
2016
41
Relapsing polychondritis: A clinical update. ( 26876384 )
2016
42
Scleritis associated with relapsing polychondritis. ( 26888976 )
2016
43
Clinical and prognostic characteristics of 158 cases of relapsing polychondritis in China and review of the literature. ( 26951051 )
2016
44
Clinical implications of ultrasonography in monitoring disease activity of relapsing polychondritis. ( 27143790 )
2016
45
Relapsing polychondritis in Singapore: a case series and review of literature. ( 26948106 )
2016
46
Genotyping of relapsing polychondritis identified novel susceptibility HLA alleles and distinct genetic characteristics from other rheumatic diseases. ( 27241705 )
2016
47
Relapsing polychondritis and lymphocytic meningitis with varied neurological symptoms. ( 26995500 )
2016
48
Relapsing polychondritis complicated by cognitive dysfunction: two distinct clinical phenotypes? ( 26887435 )
2016
49
Tocilizumab for refractory relapsing polychondritis-long-term response monitoring by magnetic resonance imaging. ( 26750763 )
2016
50
A Case of Relapsing Polychondritis with Palmoplantar Pustulosis. ( 27904200 )
2016

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 all 20)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.15 IFNG IL5 IL6
2
Show member pathways
12.02 IFNG IL5 IL6
3
Show member pathways
11.89 IFNG IL5 IL6
4
Show member pathways
11.82 IFNG IL5 IL6
5 11.61 IFNG IL5 IL6
6 11.49 ENO1 IFNG IL6
7 11.35 IFNG IL5 IL6
8 11.3 IFNG IL6
9 11.27 IL5 IL6
10 11.25 IFNG IL5
11 11.22 IFNG IL6
12 11.09 IFNG IL6
13 11.07 IL6 MGP
14 11.04 IFNG IL5
15 11.02 COMP IFNG IL6
16 10.91 IFNG IL5
17 10.74 CRP IL6
18 10.64 IFNG IL5 IL6
19 10.58 IL5 IL6
20 10.28 IFNG IL5 IL6

GO Terms for Relapsing Polychondritis

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

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.43 COMP CRP ENO1 IFNG IL5 IL6
2 extracellular region GO:0005576 9.17 COMP CRP IFNG IL5 IL6 MATN1

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

id Name GO ID Score Top Affiliating Genes
1 positive regulation of nitric oxide biosynthetic process GO:0045429 9.46 IFNG IL6
2 acute-phase response GO:0006953 9.43 CRP IL6
3 defense response to protozoan GO:0042832 9.4 IFNG IL6
4 regulation of bone mineralization GO:0030500 9.37 MATN1 MGP
5 positive regulation of JAK-STAT cascade GO:0046427 9.32 IL5 IL6
6 positive regulation of immunoglobulin secretion GO:0051024 9.26 IL5 IL6
7 positive regulation of protein import into nucleus, translocation GO:0033160 9.16 IFNG IL6
8 negative regulation of lipid storage GO:0010888 8.96 CRP IL6
9 neutrophil apoptotic process GO:0001781 8.62 IFNG IL6

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

id Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.46 COMP CRP MATN1 MGP
2 cytokine activity GO:0005125 9.13 IFNG IL5 IL6
3 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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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