MCID: RLP001
MIFTS: 50

Relapsing Polychondritis malady

Categories: Rare diseases, Nephrological diseases, Bone diseases

Aliases & Classifications for Relapsing Polychondritis

About this section
Sources:
11Disease Ontology, 13DISEASES, 30ICD10, 31ICD10 via Orphanet, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 54Orphanet, 62SNOMED-CT, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Relapsing Polychondritis:

Name: Relapsing Polychondritis 11 48 54 13
Polychondritis, Relapsing 39 68
Chronic Atrophic Polychondritis 48
 
Recurrent Polychondritis 48
Polychondritis Relapsing 50
Chondromalacia, Systemic 11

Characteristics:

Orphanet epidemiological data:

54
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 Ontology11 DOID:2556
ICD1030 M94.1
MeSH39 D011081
Orphanet54 ORPHA728
MESH via Orphanet40 D011081
UMLS via Orphanet69 C0032453
ICD10 via Orphanet31 M94.1

Summaries for Relapsing Polychondritis

About this section
NIH Rare Diseases:48 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 Array, Array and Array. An important gene associated with Relapsing Polychondritis is COMP (Cartilage Oligomeric Matrix Protein), and among its related pathways are Th2 Differentiation Pathway and Inflammatory Response Pathway. The drug dapsone has 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

About this section

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

(show top 50)    (show all 235)
idRelated DiseaseScoreTop Affiliating Genes
1lupus erythematosus29.9CRP, IL6
2rheumatoid arthritis29.8COMP, CRP, IFNG, IL6
3hepatitis29.7IFNG, IL6
4neuropathy29.6CRP, IL6
5magic syndrome11.3
6autoimmune inner ear disease11.0
7epiphyseal dysplasia, multiple, with myopia and deafness10.2COMP, MATN1
8albright's hereditary osteodystrophy10.2COMP, MATN1
9cerebral palsy10.2COMP, CRP
10west syndrome10.2COMP, CRP
11myelodysplastic syndrome10.2
12gastroschisis abdominal wall defects, included10.2IFNG, IL5
13albinism10.2IFNG, IL5
14spastic diplegia10.2IFNG, IL5
15multiple epiphyseal dysplasia due to collagen 9 anomaly10.2IFNG, IL5
16urethral intrinsic sphincter deficiency10.2IFNG, IL5
17acute gonococcal prostatitis10.2IFNG, IL5
18natural killer cell leukemia10.2CRP, IL5
19cutaneous fibrous histiocytoma10.2IFNG, IL5
20hypertropia10.2CRP, IFNG
21isolated klippel-feil syndrome10.1IFNG, IL5
22vasculitis10.1
23encephalitis10.1
24coloboma of iris10.1CRP, IL6
25cutaneous sclerosis10.1CRP, IL6
26esophagus lymphoma10.1IFNG, IL6
27shoulder impingement syndrome10.1CRP, IL6
28unilateral multicystic dysplastic kidney10.1CRP, IL6
29clostridium difficile colitis10.1IFNG, IL6
30neutrophilia, hereditary10.1CRP, IL6
31swine influenza10.1CRP, IL6
32lepromatous leprosy10.1IFNG, IL6
33cardiac tuberculosis10.1CRP, IL6
34laryngotracheoesophageal cleft type 210.1CRP, IL6
35arthritis10.1
36cyclosporiasis10.1IFNG, IL6
37bile duct signet ring cell carcinoma10.1CRP, IL5
38gastric lymphoma10.1CRP, IL6
39human immunodeficiency virus infectious disease10.1CRP, IL6
40secretory diarrhea myopathy and deafness10.1CRP, IL6
41mixed eosinophil-basophil adenoma10.1CRP, IL6
42conduct disorder10.1IFNG, IL6
43common peroneal nerve lesion10.1IL5, IL6
44pancreatic signet ring cell adenocarcinoma10.1IFNG, IL6
45aortic atherosclerosis10.1IL5, IL6
46retinal degeneration10.1CRP, IL6
47joint disorders10.1CRP, IL6
48nodular nonsuppurative panniculitis10.1CRP, IL6
49toxic myocarditis10.1CRP, IL6
50latent syphilis10.1IL5, IL6

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



Diseases related to relapsing polychondritis

Symptoms & Phenotypes for Relapsing Polychondritis

About this section

Human phenotypes related to Relapsing Polychondritis:

 54 64 (show all 41)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 renal insufficiency64 54 Occasional (29-5%) HP:0000083
2 proteinuria64 54 Occasional (29-5%) HP:0000093
3 sensorineural hearing impairment64 54 Occasional (29-5%) HP:0000407
4 keratitis64 54 Occasional (29-5%) HP:0000491
5 conjunctivitis64 54 Occasional (29-5%) HP:0000509
6 cataract64 54 Very frequent (99-80%) HP:0000518
7 uveitis64 54 Occasional (29-5%) HP:0000554
8 hematuria64 54 Occasional (29-5%) HP:0000790
9 purpura64 54 Occasional (29-5%) HP:0000979
10 arthritis64 54 Very frequent (99-80%) HP:0001369
11 limitation of joint mobility64 54 Frequent (79-30%) HP:0001376
12 anteriorly placed anus64 54 Occasional (29-5%) HP:0001545
13 alopecia64 54 Occasional (29-5%) HP:0001596
14 laryngomalacia64 54 Occasional (29-5%) HP:0001601
15 abnormality of the aortic valve64 54 Frequent (79-30%) HP:0001646
16 pericarditis64 54 Frequent (79-30%) HP:0001701
17 dyspnea64 54 Frequent (79-30%) HP:0002094
18 vertigo64 54 Frequent (79-30%) HP:0002321
19 aneurysm64 54 Occasional (29-5%) HP:0002617
20 abnormal pattern of respiration64 54 Occasional (29-5%) HP:0002793
21 arthralgia64 54 Occasional (29-5%) HP:0002829
22 abnormality of the endocardium64 54 Occasional (29-5%) HP:0004306
23 thrombophlebitis64 54 Occasional (29-5%) HP:0004418
24 biparietal narrowing64 54 Occasional (29-5%) HP:0004422
25 venous thrombosis54 Occasional (29-5%)
26 large vessel vasculitis64 54 Very frequent (99-80%) HP:0005310
27 cranial nerve paralysis64 54 Occasional (29-5%) HP:0006824
28 erythema64 54 Occasional (29-5%) HP:0010783
29 recurrent aphthous stomatitis64 54 Occasional (29-5%) HP:0011107
30 hepatitis64 54 Occasional (29-5%) HP:0012115
31 macule64 54 Occasional (29-5%) HP:0012733
32 cough64 54 Frequent (79-30%) HP:0012735
33 myocarditis64 54 Occasional (29-5%) HP:0012819
34 scleritis64 54 Occasional (29-5%) HP:0100532
35 inflammatory abnormality of the eye54 Occasional (29-5%)
36 episcleritis64 54 Occasional (29-5%) HP:0100534
37 chondritis64 54 Very frequent (99-80%) HP:0100662
38 atelectasis64 54 Frequent (79-30%) HP:0100750
39 gangrene64 54 Occasional (29-5%) HP:0100758
40 glomerulopathy64 54 Occasional (29-5%) HP:0100820
41 chondritis of pinna64 54 Very frequent (99-80%) HP:0200047

Drugs & Therapeutics for Relapsing Polychondritis

About this section

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
AbataceptapprovedPhase 1197332348-12-610237
Synonyms:
CTLA4-Ig
 
CTLA4-IgG4m
CTLA4Ig
CTLA4IgG4m
2Immunosuppressive AgentsPhase 113086
3Antirheumatic AgentsPhase 110956

Interventional clinical trials:

idNameStatusNCT IDPhase
1Tocilizumab for Relapsing PolychondritisWithdrawnNCT01104480Phase 2
2Study on the Safety of Abatacept in Relapsing PolychondritisCompletedNCT01272856Phase 1
3Single Patient Study to Treat Relapsing Polychondritis With TocilizumabCompletedNCT01041248
4Physical Training in Patients With Relapsing PolychondritisRecruitingNCT03092141

Search NIH Clinical Center for Relapsing Polychondritis

Inferred drug relations via UMLS68/NDF-RT46:


Cochrane evidence based reviews: polychondritis, relapsing

Genetic Tests for Relapsing Polychondritis

About this section

Anatomical Context for Relapsing Polychondritis

About this section

MalaCards organs/tissues related to Relapsing Polychondritis:

36
Heart, Bone, Eye, Skin, Kidney, Neutrophil, Brain

Publications for Relapsing Polychondritis

About this section

Articles related to Relapsing Polychondritis:

(show top 50)    (show all 609)
idTitleAuthorsYear
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

About this section

Expression for genes affiliated with Relapsing Polychondritis

About this section
Search GEO for disease gene expression data for Relapsing Polychondritis.

Pathways for genes affiliated with Relapsing Polychondritis

About this section

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

(show all 21)
idSuper pathwaysScoreTop Affiliating Genes
19.5IFNG, IL5
29.5IFNG, IL5
39.5IFNG, IL5
49.4CRP, IL6
59.4IFNG, IL6
69.4IFNG, IL6
79.4IFNG, IL6
89.3IL6, MGP
99.3IL5, IL6
109.3IL5, IL6
119.1COMP, IFNG, IL6
12
Show member pathways
9.0CRP, IFNG, IL6
13
Show member pathways
8.9IFNG, IL5, IL6
148.9IFNG, IL5, IL6
158.9IFNG, IL5, IL6
16
Show member pathways
8.9IFNG, IL5, IL6
17
Show member pathways
8.9IFNG, IL5, IL6
188.9IFNG, IL5, IL6
198.9IFNG, IL5, IL6
20
Show member pathways
8.9IFNG, IL5, IL6
218.6ENO1, IFNG, IL6

GO Terms for genes affiliated with Relapsing Polychondritis

About this section

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

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:00055767.9COMP, CRP, IFNG, IL5, IL6, MATN1
2extracellular spaceGO:00056157.3COMP, CRP, ENO1, IFNG, IL5, IL6

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1acute-phase responseGO:000695310.0CRP, IL6
2negative regulation of lipid storageGO:001088810.0CRP, IL6
3defense response to protozoanGO:004283210.0IFNG, IL6
4neutrophil apoptotic processGO:000178110.0IFNG, IL6
5positive regulation of nitric oxide biosynthetic processGO:00454299.9IFNG, IL6
6positive regulation of immunoglobulin secretionGO:00510249.9IL5, IL6
7positive regulation of protein import into nucleus, translocationGO:00331609.9IFNG, IL6
8positive regulation of JAK-STAT cascadeGO:00464279.9IL5, IL6
9positive regulation of tyrosine phosphorylation of STAT proteinGO:00425319.7IFNG, IL6
10regulation of bone mineralizationGO:00305009.6MATN1, MGP

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

idNameGO IDScoreTop Affiliating Genes
1calcium ion bindingGO:00055099.4COMP, CRP, MATN1, MGP
2cytokine activityGO:00051259.4IFNG, IL5, IL6
3extracellular matrix structural constituentGO:00052019.2COMP, MATN1, MGP

Sources for Relapsing Polychondritis

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet