MCID: RLP001
MIFTS: 50

Relapsing Polychondritis malady

Categories: Rare diseases, Nephrological diseases, Bone diseases

Aliases & Classifications for Relapsing Polychondritis

Aliases & Descriptions 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:



External Ids:

Disease Ontology 12 DOID:2556
ICD10 33 M94.1
MeSH 42 D011081
Orphanet 56 ORPHA728
MESH via Orphanet 43 D011081
UMLS via Orphanet 70 C0032453
ICD10 via Orphanet 34 M94.1
UMLS 69 C0032453

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 lupus erythematosus and rheumatoid arthritis, and has symptoms including arthralgia, dyspnea and vertigo. 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 Folate Metabolism. The drugs Abatacept and Immunosuppressive Agents have been mentioned in the context of this disorder. Affiliated tissues include heart, bone and eye.

Wikipedia : 71 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 235)
id Related Disease Score Top Affiliating Genes
1 lupus erythematosus 29.9 CRP IL6
2 rheumatoid arthritis 29.8 COMP CRP IFNG IL6
3 hepatitis 29.7 IFNG IL6
4 neuropathy 29.6 CRP IL6
5 magic syndrome 11.3
6 autoimmune inner ear disease 11.0
7 epiphyseal dysplasia, multiple, with myopia and deafness 10.2 COMP MATN1
8 albright's hereditary osteodystrophy 10.2 COMP MATN1
9 cerebral palsy 10.2 COMP CRP
10 west syndrome 10.2 COMP CRP
11 myelodysplastic syndrome 10.2
12 gastroschisis abdominal wall defects, included 10.2 IFNG IL5
13 albinism 10.2 IFNG IL5
14 spastic diplegia 10.2 IFNG IL5
15 multiple epiphyseal dysplasia due to collagen 9 anomaly 10.2 IFNG IL5
16 urethral intrinsic sphincter deficiency 10.2 IFNG IL5
17 acute gonococcal prostatitis 10.2 IFNG IL5
18 natural killer cell leukemia 10.2 CRP IL5
19 cutaneous fibrous histiocytoma 10.2 IFNG IL5
20 hypertropia 10.2 CRP IFNG
21 isolated klippel-feil syndrome 10.1 IFNG IL5
22 encephalitis 10.1
23 vasculitis 10.1
24 coloboma of iris 10.1 CRP IL6
25 cutaneous sclerosis 10.1 CRP IL6
26 esophagus lymphoma 10.1 IFNG IL6
27 shoulder impingement syndrome 10.1 CRP IL6
28 unilateral multicystic dysplastic kidney 10.1 CRP IL6
29 clostridium difficile colitis 10.1 IFNG IL6
30 neutrophilia, hereditary 10.1 CRP IL6
31 swine influenza 10.1 CRP IL6
32 lepromatous leprosy 10.1 IFNG IL6
33 cardiac tuberculosis 10.1 CRP IL6
34 laryngotracheoesophageal cleft type 2 10.1 CRP IL6
35 arthritis 10.1
36 cyclosporiasis 10.1 IFNG IL6
37 bile duct signet ring cell carcinoma 10.1 CRP IL5
38 gastric lymphoma 10.1 CRP IL6
39 human immunodeficiency virus infectious disease 10.1 CRP IL6
40 secretory diarrhea myopathy and deafness 10.1 CRP IL6
41 mixed eosinophil-basophil adenoma 10.1 CRP IL6
42 conduct disorder 10.1 IFNG IL6
43 common peroneal nerve lesion 10.1 IL5 IL6
44 pancreatic signet ring cell adenocarcinoma 10.1 IFNG IL6
45 aortic atherosclerosis 10.1 IL5 IL6
46 retinal degeneration 10.1 CRP IL6
47 joint disorders 10.1 CRP IL6
48 nodular nonsuppurative panniculitis 10.1 CRP IL6
49 toxic myocarditis 10.1 CRP IL6
50 latent syphilis 10.1 IL5 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 41)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthralgia 56 32 Occasional (29-5%) HP:0002829
2 dyspnea 56 32 Frequent (79-30%) HP:0002094
3 vertigo 56 32 Frequent (79-30%) HP:0002321
4 macule 56 32 Occasional (29-5%) HP:0012733
5 cataract 56 32 Very frequent (99-80%) HP:0000518
6 arthritis 56 32 Very frequent (99-80%) HP:0001369
7 sensorineural hearing impairment 56 32 Occasional (29-5%) HP:0000407
8 renal insufficiency 56 32 Occasional (29-5%) HP:0000083
9 proteinuria 56 32 Occasional (29-5%) HP:0000093
10 cranial nerve paralysis 56 32 Occasional (29-5%) HP:0006824
11 laryngomalacia 56 32 Occasional (29-5%) HP:0001601
12 hepatitis 56 32 Occasional (29-5%) HP:0012115
13 limitation of joint mobility 56 32 Frequent (79-30%) HP:0001376
14 biparietal narrowing 56 32 Occasional (29-5%) HP:0004422
15 abnormality of the aortic valve 56 32 Frequent (79-30%) HP:0001646
16 glomerulopathy 56 32 Occasional (29-5%) HP:0100820
17 keratitis 56 32 Occasional (29-5%) HP:0000491
18 hematuria 56 32 Occasional (29-5%) HP:0000790
19 abnormality of the endocardium 56 32 Occasional (29-5%) HP:0004306
20 purpura 56 32 Occasional (29-5%) HP:0000979
21 atelectasis 56 32 Frequent (79-30%) HP:0100750
22 erythema 56 32 Occasional (29-5%) HP:0010783
23 pericarditis 56 32 Frequent (79-30%) HP:0001701
24 myocarditis 56 32 Occasional (29-5%) HP:0012819
25 conjunctivitis 56 32 Occasional (29-5%) HP:0000509
26 alopecia 56 32 Occasional (29-5%) HP:0001596
27 cough 56 32 Frequent (79-30%) HP:0012735
28 anteriorly placed anus 56 32 Occasional (29-5%) HP:0001545
29 aneurysm 56 32 Occasional (29-5%) HP:0002617
30 gangrene 56 32 Occasional (29-5%) HP:0100758
31 uveitis 56 32 Occasional (29-5%) HP:0000554
32 abnormal pattern of respiration 56 32 Occasional (29-5%) HP:0002793
33 thrombophlebitis 56 32 Occasional (29-5%) HP:0004418
34 recurrent aphthous stomatitis 56 32 Occasional (29-5%) HP:0011107
35 episcleritis 56 32 Occasional (29-5%) HP:0100534
36 large vessel vasculitis 56 32 Very frequent (99-80%) HP:0005310
37 scleritis 56 32 Occasional (29-5%) HP:0100532
38 chondritis 56 32 Very frequent (99-80%) HP:0100662
39 chondritis of pinna 56 32 Very frequent (99-80%) HP:0200047
40 venous thrombosis 56 Occasional (29-5%)
41 inflammatory abnormality of the eye 56 Occasional (29-5%)

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 Immunosuppressive Agents Phase 1
3 Antirheumatic Agents Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase
1 Tocilizumab for Relapsing Polychondritis Withdrawn NCT01104480 Phase 2
2 Study on the Safety of Abatacept in Relapsing Polychondritis Completed NCT01272856 Phase 1
3 Single Patient Study to Treat Relapsing Polychondritis With Tocilizumab Completed NCT01041248
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, Brain

Publications for Relapsing Polychondritis

Articles related to Relapsing Polychondritis:

(show top 50) (show all 609)
id Title Authors Year
1
Response assessment in relapsing polychondritis with (18)F-FDG PET/CT. ( 28131697 )
2017
2
Relapsing polychondritis: prevalence of cardiovascular diseases and its risk factors, and general disease features according to gender. ( 28262498 )
2017
3
Letter to the Editor: Central Nervous System Involvement in Relapsing Polychondritis, a Rare and Difficult Diagnosis: a Case Report. ( 28480667 )
2017
4
Calcified cauliflower ear in relapsing polychondritis. ( 28432170 )
2017
5
Relapsing Polychondritis Presented with Encephalitis Followed by Brain Atrophy. ( 28243168 )
2017
6
Aseptic meningitis in relapsing polychondritis: a case report and literature review. ( 28361234 )
2017
7
Relapsing polychondritis associated with psoriasis vulgaris successfully treated with adalimumab: A case report with published work review. ( 28266051 )
2017
8
Successful Treatment of Central Nervous System Vasculitis Associated with Relapsing Polychondritis With Cyclophosphamide. ( 28502337 )
2017
9
Relapsing Polychondritis with Myelodysplastic Syndrome: A Case Report. ( 28215949 )
2017
10
Three-dimensional imaging forced oscillation technique to assess position-dependent airway obstruction in relapsing polychondritis: A case report. ( 28012498 )
2017
11
Image Gallery: Relapsing polychondritis associated with monoclonal gammopathy. ( 28098388 )
2017
12
Aortic involvement in relapsing polychondritis. ( 28528280 )
2017
13
Relapsing polychondritis as an unusual cause of multiple cranial nerve palsies-A Case report. ( 28093782 )
2017
14
Intralesional corticosteroid therapy for relapsing polychondritis. ( 28411788 )
2017
15
Relapsing polychondritis: a chameleon among orphan diseases. ( 28364136 )
2017
16
Successful treatment with tocilizumab for refractory scleritis associated with relapsing polychondritis. ( 28120637 )
2017
17
Rapid corneal thinning and perforated ulcerative keratitis in a patient with relapsing polychondritis. ( 28331873 )
2017
18
Relapsing polychondritis with meningoencephalitis. ( 28207003 )
2017
19
Relapsing Polychondritis With Airway Involvement: A Clinical Challenge. ( 28259367 )
2017
20
Sustained response to tocilizumab in a patient with relapsing polychondritis complicated by aortitis. ( 28229816 )
2017
21
Genotyping of relapsing polychondritis identified novel susceptibility HLA alleles and distinct genetic characteristics from other rheumatic diseases. ( 27241705 )
2016
22
Relapsing polychondritis: A clinical update. ( 26876384 )
2016
23
Cutaneous manifestations of patients with relapsing polychondritis: an association with extracutaneous complications. ( 26780448 )
2016
24
Relapsing Polychondritis with Central Nervous System Involvement: Experience of Three Different Cases in a Single Center. ( 27709866 )
2016
25
Relapsing Polychondritis: A Review and Guide for the Dermatologist. ( 27696147 )
2016
26
Tocilizumab-induced mucosal ulcers in a patient with relapsing polychondritis: An adverse drug reaction? ( 27139166 )
2016
27
Prevalence and comorbidity of relapsing polychondritis. ( 27757051 )
2016
28
Successful continual intratympanic steroid injection therapy in a patient with refractory sensorineural hearing loss accompanied by relapsing polychondritis. ( 27552828 )
2016
29
Relapsing Polychondritis Concomitant With Synovial Chondromatosis of the Temporomandibular Joint. ( 27292528 )
2016
30
Teaching NeuroImages: Limbic encephalitis associated with relapsing polychondritis. ( 27185902 )
2016
31
Tocilizumab for refractory relapsing polychondritis-long-term response monitoring by magnetic resonance imaging. ( 26750763 )
2016
32
Hypertrophic Pachymeningitis as an Early Manifestation of Relapsing Polychondritis: Case Report and Review of the Literature. ( 27920712 )
2016
33
Relapsing polychondritis complicated with myelodysplastic syndrome is resistant to the immunosuppression: comment on the article by Dion et al. ( 27788290 )
2016
34
Efficacy of tocilizumab for psychiatric symptoms associated with relapsing polychondritis: the first case report and review of the literature. ( 27260262 )
2016
35
Scleritis associated with relapsing polychondritis. ( 26888976 )
2016
36
Relapsing polychondritis complicated by cognitive dysfunction: two distinct clinical phenotypes? ( 26887435 )
2016
37
Saddle nose with sarcoidosis: "A great imitator" of relapsing polychondritis. ( 27321667 )
2016
38
Relapsing Polychondritis: an Update on Pathogenesis, Clinical Features, Diagnostic Tools, and Therapeutic Perspectives. ( 26711694 )
2016
39
Quantitative Computed Tomography Assessment of Air Trapping in Relapsing Polychondritis: Correlations with Spirometric Values: Erratum. ( 27434790 )
2016
40
Relapsing polychondritis can be characterized by 3 different clinical phenotypes: Analysis of a recent series of 142 patients. ( 27331771 )
2016
41
Callosal Disconnection Syndrome Associated with Relapsing Polychondritis. ( 27150878 )
2016
42
A Case of Relapsing Polychondritis with Palmoplantar Pustulosis. ( 27904200 )
2016
43
Idiopathic Orbital Inflammation Associated with Relapsing Polychondritis. ( 26974421 )
2016
44
Relapsing polychondritis and lymphocytic meningitis with varied neurological symptoms. ( 26995500 )
2016
45
Relapsing polychondritis presenting with inflammatory pseudotumor. ( 26968191 )
2016
46
A Case of Relapsing Polychondritis Initiating with Unexplained Fever. ( 26981127 )
2016
47
Relapsing polychondritis in Singapore: a case series and review of literature. ( 26948106 )
2016
48
Clinical and prognostic characteristics of 158 cases of relapsing polychondritis in China and review of the literature. ( 26951051 )
2016
49
Corticosteroid Therapy for a Patient with Relapsing Polychondritis Complicated by IgG4-Related Disease. ( 27396510 )
2016
50
18F-FDG PET/CT imaging of relapsing polychondritis: A case report. ( 27537572 )
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 21)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.15 IFNG IL5 IL6
2
Show member pathways
12.03 CRP IFNG IL6
3
Show member pathways
12.02 IFNG IL5 IL6
4
Show member pathways
11.89 IFNG IL5 IL6
5
Show member pathways
11.79 IFNG IL5 IL6
6 11.61 IFNG IL5 IL6
7 11.49 ENO1 IFNG IL6
8 11.35 IFNG IL5 IL6
9 11.31 IFNG IL6
10 11.27 IL5 IL6
11 11.26 IFNG IL5
12 11.23 IFNG IL6
13 11.1 IFNG IL6
14 11.08 IL6 MGP
15 11.05 IFNG IL5
16 11.02 COMP IFNG IL6
17 10.91 IFNG IL5
18 10.74 CRP IL6
19 10.64 IFNG IL5 IL6
20 10.61 IL5 IL6
21 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 tyrosine phosphorylation of STAT protein GO:0042531 9.48 IFNG IL6
2 positive regulation of nitric oxide biosynthetic process GO:0045429 9.46 IFNG IL6
3 acute-phase response GO:0006953 9.43 CRP IL6
4 regulation of bone mineralization GO:0030500 9.4 MATN1 MGP
5 defense response to protozoan GO:0042832 9.37 IFNG IL6
6 positive regulation of JAK-STAT cascade GO:0046427 9.32 IL5 IL6
7 positive regulation of immunoglobulin secretion GO:0051024 9.26 IL5 IL6
8 positive regulation of protein import into nucleus, translocation GO:0033160 9.16 IFNG IL6
9 negative regulation of lipid storage GO:0010888 8.96 CRP IL6
10 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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