MCID: RLP001
MIFTS: 53

Relapsing Polychondritis malady

Categories: Rare diseases, Nephrological diseases, Bone diseases

Aliases & Classifications for Relapsing Polychondritis

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Sources:
10Disease Ontology, 45NIH Rare Diseases, 12DISEASES, 51Orphanet, 47Novoseek, 36MeSH, 65UMLS, 27ICD10, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Relapsing Polychondritis:

Name: Relapsing Polychondritis 10 45 12 51
Polychondritis, Relapsing 36 65
Chronic Atrophic Polychondritis 45
 
Recurrent Polychondritis 45
Polychondritis Relapsing 47
Chondromalacia, Systemic 10

Characteristics:

Orphanet epidemiological data:

51
relapsing polychondritis:
Prevalence: 1-9/1000000 (United States),1-9/1000000 (Worldwide); Age of onset: Adult; Age of death: adult

Classifications:



External Ids:

Disease Ontology10 DOID:2556
ICD1027 M94.1
MeSH36 D011081
Orphanet51 728
ICD10 via Orphanet28 M94.1
MESH via Orphanet37 D011081
UMLS via Orphanet66 C0032453
UMLS65 C0032453

Summaries for Relapsing Polychondritis

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NIH Rare Diseases:45 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 rheumatoid arthritis and chondromalacia, and has symptoms including abnormality of the nose, arthritis and arthralgia. An important gene associated with Relapsing Polychondritis is MATN1 (Matrilin 1, Cartilage Matrix Protein), and among its related pathways are MSP-RON Signaling and ECM proteoglycans. The drug dapsone has been mentioned in the context of this disorder. Affiliated tissues include heart, skin and bone.

Wikipedia:68 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 228)
idRelated DiseaseScoreTop Affiliating Genes
1rheumatoid arthritis28.1CCL2, COMP, CRP, CXCL8, IFNG
2chondromalacia26.2CCL2, COMP, CRP, CXCL8, IFNG, MATN1
3magic syndrome10.6
4askin's tumor10.5CRP, IFNG
5goodpasture syndrome10.5CRP, IFNG
6smed strudwick type10.4COMP, MATN1
7tuberculoid leprosy10.4CRP, IFNG
8porphyria10.4CRP, IFNG
9cataract10.4COMP, CRP
10tendinosis10.4COMP, CRP
11commensal bacterial infectious disease10.4CRP, IFNG
12slti salem syndrome10.3CRP, CXCL8
13myelodysplastic syndrome10.3
14thrombophlebitis migrans10.3CRP, CXCL8
15desquamative interstitial pneumonia10.3CRP, CXCL8
16wells-jankovic syndrome10.3CRP, CXCL8
17narcissistic personality disorder10.3CRP, CXCL8
18scrotum squamous cell carcinoma10.3CRP, CXCL8
19endocarditis10.3CRP, CXCL8
20gonadal disease10.3CRP, CXCL8
21aggressive digital papillary adenocarcinoma10.3CRP, CXCL8
22alcoholic gastritis10.3CRP, CXCL8
23cutaneous paget's disease10.3CRP, CXCL8
24bardet-biedl syndrome 810.3CRP, CXCL8
25arthritis10.2
26vasculitis10.2
27encephalitis10.2
28peritoneal cystic mesothelioma10.2CXCL8, IFNG
29neonatal infective mastitis10.2CXCL8, IFNG
30peripheral retinal degeneration10.2CXCL8, IFNG
31hypoglycemic coma10.2CRP, CXCL8
32limited scleroderma10.2CRP, IFNG
33astrakhan spotted fever10.2CXCL8, IFNG
34subclavian steal syndrome10.2CRP, CXCL8
35pneumoconiosis10.2CRP, CXCL8
36dentin dysplasia10.2CXCL8, IFNG
37viral gastritis10.2CRP, CXCL8
38bronchopulmonary dysplasia10.2CXCL8, IFNG
39periampullary adenoma10.2CRP, CXCL8
40reactive arthritis10.2CRP, CXCL8
41eosinophilic gastritis10.2CXCL8, IFNG
42obstructive sleep apnea10.2CRP, CXCL8
43liver lipoma10.2CXCL8, IFNG
44aortitis10.2
45meningitis10.2
46limbic encephalitis10.2
47chronic cystitis10.2CRP, CXCL8
48scleritis10.1
49autoimmune inner ear disease10.1
50multiple symmetric lipomatosis10.1CXCL8, IFNG

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



Diseases related to relapsing polychondritis

Symptoms for Relapsing Polychondritis

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Symptoms:

 51 (show all 63)
  • anomalies of nose and olfaction
  • nasal chondritis/nose chondritis
  • external ear anomalies
  • pinnae chondritis
  • articular/joint pain/arthralgia
  • arthritis/synovitis/synovial proliferation
  • chondritis/cartilage inflammation
  • asthenia/fatigue/weakness
  • proptosis/exophthalmos
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • cataract/lens opacification
  • palpebral edema/periorbital edema
  • nasal congestion/sinusitis/rhinitis/rhinorrhea
  • dizziness
  • cough
  • abnormal cry/voice/phonation disorder/nasal speech
  • aortic valve anomaly/incompetence/insufficiency/regurgitation/bicuspid
  • pericardium anomalies/pericarditis/absence/cysts/pericardial effusion
  • aortic root dilatation/dilation/aneurysm
  • arterial aneurism (excluding aorta)
  • vascularitis/vasculitides/arteritis
  • osteolysis/osteoclasia/bone destruction/erosions
  • restricted joint mobility/joint stiffness/ankylosis
  • cartilage destruction/chondrolysis
  • autoimmunity/autoimmune reaction/autoantibodies
  • fever/chilling
  • biological inflammatory syndrome/increased erythrocyte sedimentation rate/crp
  • tinnitus
  • sensorineural deafness/hearing loss
  • conductive deafness/hearing loss
  • chronic skin infection/ulcerations/ulcers/cancrum
  • urticaria
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • macules
  • enanthema/aphtosa/aphta/leukoplakia
  • purpura/petichiae
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • hepatitis/icterus/cholestasis
  • laryngomalacia
  • tracheal atresia/stenosis
  • tracheomalacia/tracheobronchomalacia
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • repeat respiratory infections
  • mitral valve prolapse/incompetence/insufficiency/regurgitation/ring anomaly
  • myocardium anomalies/myocarditis
  • endocardium anomalies/fibroelastosis/endocarditis
  • cardiac rhythm disorder/arrhythmia
  • angor pectoris/myocardial infarction
  • heart/cardiac failure
  • arterial embolism/thrombosis
  • venous thrombosis/phlebitis/thrombophlebitis
  • gangrena/necrosis
  • renal glomerular defect/glomerulopathy
  • renal failure
  • proteinuria
  • hematuria/microhematuria
  • cranial nerves palsy
  • encephalitis
  • ataxia/incoordination/trouble of the equilibrium
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • anaemia
  • myelodysplastic syndrome
  • early death/lethality

HPO human phenotypes related to Relapsing Polychondritis:

(show all 56)
id Description Frequency HPO Source Accession
1 abnormality of the nose hallmark (90%) HP:0000366
2 arthritis hallmark (90%) HP:0001369
3 arthralgia hallmark (90%) HP:0002829
4 external ear malformation hallmark (90%) HP:0008572
5 chondritis hallmark (90%) HP:0100662
6 chondritis of pinna hallmark (90%) HP:0200047
7 sinusitis typical (50%) HP:0000246
8 cataract typical (50%) HP:0000518
9 proptosis typical (50%) HP:0000520
10 limitation of joint mobility typical (50%) HP:0001376
11 abnormality of the voice typical (50%) HP:0001608
12 abnormality of the aortic valve typical (50%) HP:0001646
13 abnormality of the pericardium typical (50%) HP:0001697
14 vertigo typical (50%) HP:0002321
15 aneurysm typical (50%) HP:0002617
16 vasculitis typical (50%) HP:0002633
17 osteolysis typical (50%) HP:0002797
18 autoimmunity typical (50%) HP:0002960
19 abnormality of temperature regulation typical (50%) HP:0004370
20 dilatation of the ascending aorta typical (50%) HP:0005111
21 inflammatory abnormality of the eye typical (50%) HP:0100533
22 periorbital edema typical (50%) HP:0100539
23 cartilage destruction typical (50%) HP:0100773
24 renal insufficiency occasional (7.5%) HP:0000083
25 proteinuria occasional (7.5%) HP:0000093
26 abnormality of the oral cavity occasional (7.5%) HP:0000163
27 tinnitus occasional (7.5%) HP:0000360
28 conductive hearing impairment occasional (7.5%) HP:0000405
29 sensorineural hearing impairment occasional (7.5%) HP:0000407
30 hematuria occasional (7.5%) HP:0000790
31 urticaria occasional (7.5%) HP:0001025
32 hypermelanotic macule occasional (7.5%) HP:0001034
33 abnormality of the liver occasional (7.5%) HP:0001392
34 laryngomalacia occasional (7.5%) HP:0001601
35 abnormality of the mitral valve occasional (7.5%) HP:0001633
36 congestive heart failure occasional (7.5%) HP:0001635
37 abnormality of the myocardium occasional (7.5%) HP:0001637
38 coronary artery disease occasional (7.5%) HP:0001677
39 anemia occasional (7.5%) HP:0001903
40 subcutaneous hemorrhage occasional (7.5%) HP:0001933
41 respiratory insufficiency occasional (7.5%) HP:0002093
42 recurrent respiratory infections occasional (7.5%) HP:0002205
43 incoordination occasional (7.5%) HP:0002311
44 encephalitis occasional (7.5%) HP:0002383
45 tracheal stenosis occasional (7.5%) HP:0002777
46 tracheomalacia occasional (7.5%) HP:0002779
47 myelodysplasia occasional (7.5%) HP:0002863
48 abnormality of the endocardium occasional (7.5%) HP:0004306
49 hemiplegia/hemiparesis occasional (7.5%) HP:0004374
50 thrombophlebitis occasional (7.5%) HP:0004418
51 arterial thrombosis occasional (7.5%) HP:0004420
52 cranial nerve paralysis occasional (7.5%) HP:0006824
53 arrhythmia occasional (7.5%) HP:0011675
54 gangrene occasional (7.5%) HP:0100758
55 glomerulopathy occasional (7.5%) HP:0100820
56 skin ulcer occasional (7.5%) HP:0200042

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 1139332348-12-610237
Synonyms:
CTLA4-Ig
CTLA4-IgG4m
 
CTLA4Ig
CTLA4IgG4m
Orencia
2Immunosuppressive AgentsPhase 110422
3Antirheumatic AgentsPhase 18496
4Immunologic FactorsPhase 118483

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 UMLS65/NDF-RT43:


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:

33
Heart, Skin, Bone, Kidney, Eye, Liver, Thyroid

Animal Models for Relapsing Polychondritis or affiliated genes

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Publications for Relapsing Polychondritis

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Articles related to Relapsing Polychondritis:

(show top 50)    (show all 570)
idTitleAuthorsYear
1
Relapsing Polychondritis Complicated by Vasculitis of the Omentum. (27181548)
2016
2
(18)F-FDG PET-CT: a powerful tool for the diagnosis and treatment of relapsing polychondritis. (26529231)
2015
3
Limbic encephalitis associated with relapsing polychondritis responded to infliximab and maintained its condition without recurrence after discontinuation: a case report and review of the literature. (25741046)
2014
4
Cardiac involvement in relapsing polychondritis. (24917640)
2014
5
Tracheobronchial involvement in relapsing polychondritis diagnosed on endobronchial ultrasound. (23545679)
2013
6
Case of relapsing polychondritis showing elevation of anti-type II collagen antibody titer. (23855351)
2013
7
Relapsing polychondritis: response to tocilizumab and association with colitis. (24048111)
2013
8
Abatacept in relapsing polychondritis. (23956250)
2013
9
Relapsing polychondritis coexisting with immune thrombocytopenic purpura: an unusual association. (23024116)
2013
10
18F]fluorodeoxyglucose positron emission tomography imaging in a case of relapsing polychondritis. (22829695)
2012
11
Red eyes and red ears: relapsing polychondritis. (23254506)
2012
12
Sustained response to tocilizumab, anti-IL-6 antibody, following anti-TNF-I+ failure in a patient with relapsing polychondritis complicated by aortitis. (22298790)
2012
13
Meningoencephalitis or meningitis in relapsing polychondritis: four case reports and a literature review. (22051026)
2011
14
Relapsing polychondritis and airway involvement. (19017885)
2009
15
Sustained response to tocilizumab, anti-interleukin-6 receptor antibody, in two patients with refractory relapsing polychondritis. (19106169)
2009
16
Autoantibodies to glutamate receptor GluRepsilon2 in a patient with limbic encephalitis associated with relapsing polychondritis. (19716567)
2009
17
Fluorodeoxyglucose PET in relapsing polychondritis. (18234765)
2008
18
Relapsing polychondritis in a patient with lupus erythematosus: another manifestation of neutrophilic lupus? (18594144)
2008
19
"Prominent ear sign" on diffusion-weighted magnetic resonance imaging in relapsing polychondritis. (18770003)
2008
20
Crohn's disease, relapsing polychondritis and epidermolysis bullosa acquisita: an immune-mediated inflammatory syndrome. (18238795)
2008
21
Proteomic surveillance of autoantigens in relapsing polychondritis. (16490929)
2006
22
Uncommon CT findings in relapsing polychondritis. (16155171)
2005
23
Chronic lymphocytic leukaemia and concomitant relapsing polychondritis: a report on one treatment for the combined manifestation of two diseases. (15855184)
2005
24
Relapsing polychondritis. (15454129)
2004
25
Cardiac manifestations of relapsing polychondritis--a case report. (15378125)
2004
26
Bilateral ear swelling and cough. Relapsing polychondritis. (15171083)
2004
27
Obstructive sleep apnoea/hypopnoea as the initial presentation of relapsing polychondritis. (14994981)
2004
28
Relapsing polychondritis in an elderly male. (15260398)
2003
29
Syncope in a patient with relapsing polychondritis. (14644874)
2003
30
Identification of type II collagen peptide 261-273-specific T cell clones in a patient with relapsing polychondritis. (11817597)
2002
31
Cartilage-specific autoimmunity in animal models and clinical aspects in patients - focus on relapsing polychondritis. (12223103)
2002
32
Colchicine and indomethacin for the treatment of relapsing polychondritis. (11807462)
2002
33
Concurrence of relapsing polychondritis and psoriatic arthritis. (17041338)
2002
34
Orbital mucosa-associated lymphoid tissue (MALT)-type lymphoma in a patient with relapsing polychondritis. (11465724)
2001
35
Microscopic polyangiitis in a patient with relapsing polychondritis. (11257169)
2001
36
Anesthetic management of a patient with relapsing polychondritis. (10392683)
1999
37
Pulmonary manifestations of ankylosing spondylitis and relapsing polychondritis. (9917964)
1998
38
Pregnancy in relapsing polychondritis: twenty-five pregnancies in eleven patients. (9214424)
1997
39
Tc-99m MDP bone scintigraphy in relapsing polychondritis. (9099491)
1997
40
Joint symptoms in relapsing polychondritis. (7586772)
1995
41
Relapsing polychondritis associated with rheumatoid arthritis. (8683835)
1995
42
A diagnostic dilemma: Wegener's granulomatosis, relapsing polychondritis or both? (8258052)
1993
43
Relapsing polychondritis as a secondary phenomenon of primary systemic vasculitis. (8311544)
1993
44
Preferential cellular and humoral immune reactivities to native and denatured collagen types IX and XI in a patient with fatal relapsing polychondritis. (8230032)
1993
45
Cryptococcal epididymo-orchitis complicating steroid therapy for relapsing polychondritis. (1780194)
1991
46
Relapsing polychondritis. (2916981)
1989
47
Relapsing polychondritis. (3522446)
1986
48
Relapsing polychondritis studied by computed tomography. (4048461)
1985
49
50

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of cell adhesionGO:00457859.9CCL2, IFNG
2PERK-mediated unfolded protein responseGO:00364999.7CCL2, CXCL8
3cell cycle arrestGO:00070509.7CXCL8, IFNG
4movement of cell or subcellular componentGO:00069289.6CXCL8, IFNG
5chemotaxisGO:00069359.1CCL2, CXCL8
6cellular response to tumor necrosis factorGO:00713569.1CCL2, CXCL8
7neutrophil chemotaxisGO:00305939.0CCL2, CXCL8, IFNG
8endoplasmic reticulum unfolded protein responseGO:00309688.8CCL2, CXCL8, IFNG
9immune responseGO:00069558.6CCL2, CXCL8, IFNG
10cellular response to lipopolysaccharideGO:00712228.4CCL2, CXCL8, IFNG

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:00052019.3COMP, MGP

Sources for Relapsing Polychondritis

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet