MCID: RLP001
MIFTS: 49

Relapsing Polychondritis malady

Categories: Rare diseases, Nephrological diseases, Bone diseases

Aliases & Classifications for Relapsing Polychondritis

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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

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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 alopecia and rheumatoid arthritis, and has symptoms including abnormality of the nose, arthritis and arthralgia. 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 skin.

Wikipedia:71 Relapsing polychondritis is a multi-systemic condition characterized by inflammation and deterioration... more...

Related Diseases for Relapsing Polychondritis

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

(show top 50)    (show all 274)
idRelated DiseaseScoreTop Affiliating Genes
1alopecia29.9CRP, IL6
2rheumatoid arthritis29.4COMP, CRP, IFNG, IL6
3exophthalmos29.2IFNG, IL5
4xanthomatosis29.0COMP, CRP, IFNG, IL6
5magic syndrome11.3
6autoimmune inner ear disease11.0
7smed strudwick type10.5COMP, MATN1
8cerebral hemorrhage10.4COMP, CRP
9neuronal ceroid-lipofuscinoses10.4COMP, CRP
10oral cavity carcinoma in situ10.4CRP, IFNG
11diffuse secondary choroid atrophy10.4CRP, IFNG
12gastroschisis abdominal wall defects, included10.4IFNG, IL5
13cholesteatoma of middle ear10.4IFNG, IL5
14tertiary neurosyphilis10.4IFNG, IL5
15thomsen and becker disease10.3IFNG, IL5
16gonococcal synovitis10.3IFNG, IL5
17compensatory emphysema10.3CRP, IFNG
18acute gonococcal salpingitis10.3IFNG, IL5
19cervix melanoma10.3IFNG, IL5
20louping ill10.3CRP, IFNG
21multiple system atrophy, cerebellar type10.3IFNG, IL5
22solitary cyst of breast10.3CRP, IL5
23buphthalmos10.3IFNG, IL5
24tetanus neonatorum10.3IFNG, IL5
25sweat gland cancer10.3COMP, IL6
26x-linked intellectual disability, siderius type10.3IFNG, IL5
27pasteurellosis10.3IFNG, IL6
28ovarian cystic teratoma10.3CRP, MGP
29lymphocytic colitis10.3IFNG, IL6
30herpangina10.2IFNG, IL6
31orbital lymphangioma10.2IFNG, IL6
32aneurysm of sinus of valsalva10.2CRP, IL6
33renal cell carcinoma 410.2IFNG, IL6
34carbon baby syndrome10.2CRP, IL6
35atrophic vulva10.2CRP, IL6
36scn8a encephalopathy10.2IFNG, IL6
37midline interhemispheric variant of holoprosencephaly10.2CRP, IL6
38mastocytosis cutaneous with short stature conductive hearing loss and microtia10.2IFNG, IL6
39hemophagocytic lymphohistiocytosis10.2IFNG, IL6
40epstein-barr virus hepatitis10.2CRP, IL6
41leukostasis10.2IFNG, IL6
42malignant gastric granular cell tumor10.2CRP, IL6
43chronic diarrhea due to guanylate cyclase 2c overactivity10.2CRP, IL6
44conventional leiomyosarcoma10.2CRP, IL6
45cyclothymic disorder10.2CRP, IL6
46dementia - subcortical10.2IFNG, IL6
47lung occult adenocarcinoma10.2CRP, IL6
48oesophagostomiasis10.2IFNG, IL6
49antidepressant type abuse10.2CRP, IL6
50substernal goiter10.2CRP, IL6

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



Diseases related to relapsing polychondritis

Symptoms & Phenotypes for Relapsing Polychondritis

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Human phenotypes related to Relapsing Polychondritis:

 64 54 (show all 77)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the nose64 hallmark (90%) HP:0000366
2 arthritis64 54 hallmark (90%) Very frequent (99-80%) HP:0001369
3 arthralgia64 54 hallmark (90%) Occasional (29-5%) HP:0002829
4 external ear malformation64 hallmark (90%) HP:0008572
5 chondritis64 54 hallmark (90%) Very frequent (99-80%) HP:0100662
6 chondritis of pinna64 54 hallmark (90%) Very frequent (99-80%) HP:0200047
7 sinusitis64 typical (50%) HP:0000246
8 cataract64 54 typical (50%) Very frequent (99-80%) HP:0000518
9 proptosis64 typical (50%) HP:0000520
10 limitation of joint mobility64 54 typical (50%) Frequent (79-30%) HP:0001376
11 abnormality of the voice64 typical (50%) HP:0001608
12 abnormality of the aortic valve64 54 typical (50%) Frequent (79-30%) HP:0001646
13 abnormality of the pericardium64 typical (50%) HP:0001697
14 vertigo64 54 typical (50%) Frequent (79-30%) HP:0002321
15 aneurysm64 54 typical (50%) Occasional (29-5%) HP:0002617
16 vasculitis64 typical (50%) HP:0002633
17 osteolysis64 typical (50%) HP:0002797
18 autoimmunity64 typical (50%) HP:0002960
19 abnormality of temperature regulation64 typical (50%) HP:0004370
20 dilatation of the ascending aorta64 typical (50%) HP:0005111
21 inflammatory abnormality of the eye64 54 typical (50%) Occasional (29-5%) HP:0100533
22 periorbital edema64 typical (50%) HP:0100539
23 cartilage destruction64 typical (50%) HP:0100773
24 renal insufficiency64 54 occasional (7.5%) Occasional (29-5%) HP:0000083
25 proteinuria64 54 occasional (7.5%) Occasional (29-5%) HP:0000093
26 abnormality of the oral cavity64 occasional (7.5%) HP:0000163
27 tinnitus64 occasional (7.5%) HP:0000360
28 conductive hearing impairment64 occasional (7.5%) HP:0000405
29 sensorineural hearing impairment64 54 occasional (7.5%) Occasional (29-5%) HP:0000407
30 hematuria64 54 occasional (7.5%) Occasional (29-5%) HP:0000790
31 urticaria64 occasional (7.5%) HP:0001025
32 hypermelanotic macule64 occasional (7.5%) HP:0001034
33 abnormality of the liver64 occasional (7.5%) HP:0001392
34 laryngomalacia64 54 occasional (7.5%) Occasional (29-5%) HP:0001601
35 abnormality of the mitral valve64 occasional (7.5%) HP:0001633
36 congestive heart failure64 occasional (7.5%) HP:0001635
37 abnormality of the myocardium64 occasional (7.5%) HP:0001637
38 coronary artery disease64 occasional (7.5%) HP:0001677
39 anemia64 occasional (7.5%) HP:0001903
40 subcutaneous hemorrhage64 occasional (7.5%) HP:0001933
41 respiratory insufficiency64 occasional (7.5%) HP:0002093
42 recurrent respiratory infections64 occasional (7.5%) HP:0002205
43 incoordination64 occasional (7.5%) HP:0002311
44 encephalitis64 occasional (7.5%) HP:0002383
45 tracheal stenosis64 occasional (7.5%) HP:0002777
46 tracheomalacia64 occasional (7.5%) HP:0002779
47 myelodysplasia64 occasional (7.5%) HP:0002863
48 abnormality of the endocardium64 54 occasional (7.5%) Occasional (29-5%) HP:0004306
49 hemiplegia/hemiparesis64 occasional (7.5%) HP:0004374
50 thrombophlebitis64 54 occasional (7.5%) Occasional (29-5%) HP:0004418
51 arterial thrombosis64 occasional (7.5%) HP:0004420
52 cranial nerve paralysis64 54 occasional (7.5%) Occasional (29-5%) HP:0006824
53 arrhythmia64 occasional (7.5%) HP:0011675
54 gangrene64 54 occasional (7.5%) Occasional (29-5%) HP:0100758
55 glomerulopathy64 54 occasional (7.5%) Occasional (29-5%) HP:0100820
56 skin ulcer64 occasional (7.5%) HP:0200042
57 keratitis54 Occasional (29-5%)
58 conjunctivitis54 Occasional (29-5%)
59 uveitis54 Occasional (29-5%)
60 purpura54 Occasional (29-5%)
61 anteriorly placed anus54 Occasional (29-5%)
62 alopecia54 Occasional (29-5%)
63 pericarditis54 Frequent (79-30%)
64 dyspnea54 Frequent (79-30%)
65 abnormal pattern of respiration54 Occasional (29-5%)
66 biparietal narrowing54 Occasional (29-5%)
67 venous thrombosis54 Occasional (29-5%)
68 large vessel vasculitis54 Very frequent (99-80%)
69 erythema54 Occasional (29-5%)
70 recurrent aphthous stomatitis54 Occasional (29-5%)
71 hepatitis54 Occasional (29-5%)
72 macule54 Occasional (29-5%)
73 cough54 Frequent (79-30%)
74 myocarditis54 Occasional (29-5%)
75 scleritis54 Occasional (29-5%)
76 episcleritis54 Occasional (29-5%)
77 atelectasis54 Frequent (79-30%)

Drugs & Therapeutics for Relapsing Polychondritis

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
AbataceptapprovedPhase 1192332348-12-610237
Synonyms:
CTLA4-Ig
 
CTLA4-IgG4m
CTLA4Ig
CTLA4IgG4m
2Immunosuppressive AgentsPhase 112770
3Antirheumatic AgentsPhase 110627

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

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

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Anatomical Context for Relapsing Polychondritis

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MalaCards organs/tissues related to Relapsing Polychondritis:

36
Heart, Bone, Skin, Eye, Liver, Neutrophil, Bone marrow

Publications for Relapsing Polychondritis

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Articles related to Relapsing Polychondritis:

(show top 50)    (show all 588)
idTitleAuthorsYear
1
Three-dimensional imaging forced oscillation technique to assess position-dependent airway obstruction in relapsing polychondritis: A case report. (28012498)
2017
2
Genotyping of relapsing polychondritis identified novel susceptibility HLA alleles and distinct genetic characteristics from other rheumatic diseases. (27241705)
2016
3
Relapsing Polychondritis Complicated by Vasculitis of the Omentum. (27181548)
2016
4
Saddle nose with sarcoidosis: "A great imitator" of relapsing polychondritis. (27321667)
2016
5
Tocilizumab-induced mucosal ulcers in a patient with relapsing polychondritis: An adverse drug reaction? (27139166)
2016
6
Callosal Disconnection Syndrome Associated with Relapsing Polychondritis. (27150878)
2016
7
Clinical implications of ultrasonography in monitoring disease activity of relapsing polychondritis. (27143790)
2016
8
18F-FDG PET/CT imaging of relapsing polychondritis: A case report. (27537572)
2016
9
Cutaneous manifestations of patients with relapsing polychondritis: an association with extracutaneous complications. (26780448)
2016
10
A Case of Relapsing Polychondritis Initiating with Unexplained Fever. (26981127)
2016
11
A nationwide study of the epidemiology of relapsing polychondritis. (27418855)
2016
12
A Case of Relapsing Polychondritis with Palmoplantar Pustulosis. (27904200)
2016
13
Relapsing polychondritis presenting with inflammatory pseudotumor. (26968191)
2016
14
Relapsing Polychondritis: an Update on Pathogenesis, Clinical Features, Diagnostic Tools, and Therapeutic Perspectives. (26711694)
2016
15
Relapsing polychondritis in Singapore: a case series and review of literature. (26948106)
2016
16
Clinical and prognostic characteristics of 158 cases of relapsing polychondritis in China and review of the literature. (26951051)
2016
17
Tocilizumab for refractory relapsing polychondritis-long-term response monitoring by magnetic resonance imaging. (26750763)
2016
18
Relapsing polychondritis can be characterized by 3 different clinical phenotypes: Analysis of a recent series of 142 patients. (27331771)
2016
19
Relapsing polychondritis: A clinical update. (26876384)
2016
20
Relapsing polychondritis complicated by cognitive dysfunction: two distinct clinical phenotypes? (26887435)
2016
21
Relapsing Polychondritis: A Review and Guide for the Dermatologist. (27696147)
2016
22
Relapsing polychondritis: A 2016 update on clinical features, diagnostic tools, treatment and biological drug use. (27886803)
2016
23
Idiopathic Orbital Inflammation Associated with Relapsing Polychondritis. (26974421)
2016
24
Teaching NeuroImages: Limbic encephalitis associated with relapsing polychondritis. (27185902)
2016
25
Hypertrophic Pachymeningitis as an Early Manifestation of Relapsing Polychondritis: Case Report and Review of the Literature. (27920712)
2016
26
Successful continual intratympanic steroid injection therapy in a patient with refractory sensorineural hearing loss accompanied by relapsing polychondritis. (27552828)
2016
27
Quantitative Computed Tomography Assessment of Air Trapping in Relapsing Polychondritis: Correlations with Spirometric Values: Erratum. (27434790)
2016
28
Relapsing Polychondritis with Central Nervous System Involvement: Experience of Three Different Cases in a Single Center. (27709866)
2016
29
Scleritis associated with relapsing polychondritis. (26888976)
2016
30
A case report of Relapsing polychondritis. (27728688)
2016
31
Corticosteroid Therapy for a Patient with Relapsing Polychondritis Complicated by IgG4-Related Disease. (27396510)
2016
32
Relapsing polychondritis and lymphocytic meningitis with varied neurological symptoms. (26995500)
2016
33
An uncommon presentation of an uncommon disease: relapsing polychondritis overlap with systemic lupus erythematosus. (27267190)
2016
34
Efficacy of tocilizumab for psychiatric symptoms associated with relapsing polychondritis: the first case report and review of the literature. (27260262)
2016
35
Relapsing Polychondritis Concomitant With Synovial Chondromatosis of the Temporomandibular Joint. (27292528)
2016
36
Prevalence and comorbidity of relapsing polychondritis. (27757051)
2016
37
Relapsing polychondritis complicated with myelodysplastic syndrome is resistant to the immunosuppression: comment on the article by Dion et al. (27788290)
2016
38
(18)F-FDG PET-CT: a powerful tool for the diagnosis and treatment of relapsing polychondritis. (26529231)
2015
39
Relapsing polychondritis. (27708954)
2015
40
New onset of immunoglobulin G4-related disease in a patient with relapsing polychondritis. (25867227)
2015
41
Cardiac involvement in relapsing polychondritis in Japan. (26361883)
2015
42
Relapsing polychondritis with encephalitis: a case report and literature review. (25743018)
2015
43
Fever and cough without pulmonary abnormalities on CT: relapsing polychondritis restricted to the airways. (25592904)
2015
44
Relapsing polychondritis: inflamed joints and ears. (25759785)
2015
45
Quantitative Computed Tomography Measurement of Tracheal Cross-Sectional Areas in Relapsing Polychondritis: Correlations with Spirometric Values. (26509473)
2015
46
A RARE COMPLICATION OF A RARE DISEASE; STROKE DUE TO RELAPSING POLYCHONDRITIS. (26821518)
2015
47
Histiocytoid sweet syndrome: a novel association with relapsing polychondritis. (26474089)
2015
48
Relapsing Polychondritis Presenting with Meningoencephalitis and Dementia: Correlation with Neuroimaging and Clinical Features. (26179688)
2015
49
Airway involvement of relapsing polychondritis revealed by 18F-fluoride PET/CT. (25723147)
2015
50
Preliminary results of the application of a disease activity score in a patient with relapsing polychondritis. (26484879)
2015

Variations for Relapsing Polychondritis

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Expression for genes affiliated with Relapsing Polychondritis

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Search GEO for disease gene expression data for Relapsing Polychondritis.

Pathways for genes affiliated with Relapsing Polychondritis

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GO Terms for genes affiliated with Relapsing Polychondritis

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

idNameGO IDScoreTop Affiliating Genes
1proteinaceous extracellular matrixGO:00055789.2COMP, MATN1, MGP
2extracellular regionGO:00055768.5COMP, CRP, IFNG, IL5, IL6, MATN1
3extracellular spaceGO:00056157.9COMP, CRP, ENO1, IFNG, IL5, IL6

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1acute-phase responseGO:000695310.1CRP, IL6
2negative regulation of lipid storageGO:001088810.1CRP, IL6
3defense response to protozoanGO:004283210.0IFNG, IL6
4neutrophil apoptotic processGO:000178110.0IFNG, IL6
5positive regulation of immunoglobulin secretionGO:00510249.8IL5, IL6
6positive regulation of JAK-STAT cascadeGO:00464279.8IL5, IL6
7positive regulation of nitric oxide biosynthetic processGO:00454299.7IFNG, IL6
8regulation of bone mineralizationGO:00305009.6MATN1, MGP
9positive regulation of gene expressionGO:00106289.5CRP, IFNG, IL6

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

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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