MCID: RLP001
MIFTS: 52

Relapsing Polychondritis malady

Categories: Rare diseases, Nephrological diseases, Bone diseases

Aliases & Classifications for Relapsing Polychondritis

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Sources:
11Disease Ontology, 46NIH Rare Diseases, 13DISEASES, 52Orphanet, 48Novoseek, 37MeSH, 66UMLS, 28ICD10, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 60SNOMED-CT
See all MalaCards sources

Aliases & Descriptions for Relapsing Polychondritis:

Name: Relapsing Polychondritis 11 46 13 52
Polychondritis, Relapsing 37 66
Chronic Atrophic Polychondritis 46
 
Recurrent Polychondritis 46
Polychondritis Relapsing 48
Chondromalacia, Systemic 11

Characteristics:

Orphanet epidemiological data:

52
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
ICD1028 M94.1
MeSH37 D011081
Orphanet52 ORPHA728
ICD10 via Orphanet29 M94.1
MESH via Orphanet38 D011081
UMLS via Orphanet67 C0032453

Summaries for Relapsing Polychondritis

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NIH Rare Diseases:46 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 systemic lupus erythematosus, 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 IL6-mediated signaling events and African trypanosomiasis. The drug dapsone has been mentioned in the context of this disorder. Affiliated tissues include heart, bone and skin, and related mouse phenotype immune system.

Wikipedia:69 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 316)
idRelated DiseaseScoreTop Affiliating Genes
1alopecia29.4CCL2, CRP, IL6
2systemic lupus erythematosus28.9CCL2, CRP, IFNG, IL6
3rheumatoid arthritis28.7CCL2, COMP, CRP, IFNG, IL6
4xanthomatosis28.3CCL2, COMP, CRP, IFNG, IL6
5oral cavity carcinoma in situ10.6CRP, IFNG
6diffuse secondary choroid atrophy10.6CRP, IFNG
7cerebral hemorrhage10.6COMP, CRP
8neuronal ceroid-lipofuscinoses10.6COMP, CRP
9magic syndrome10.6
10gastroschisis abdominal wall defects, included10.5IFNG, IL5
11cholesteatoma of middle ear10.5IFNG, IL5
12tertiary neurosyphilis10.5IFNG, IL5
13thomsen and becker disease10.5IFNG, IL5
14acute gonococcal salpingitis10.5IFNG, IL5
15cervix melanoma10.5IFNG, IL5
16multiple system atrophy, cerebellar type10.4IFNG, IL5
17atrial tachyarrhythmia with short pr interval10.4CCL2, IFNG
18solitary cyst of breast10.4CRP, IL5
19pneumoconiosis10.4CCL2, IFNG
20mixed connective tissue disease10.4CRP, IL5
21askin's tumor10.4CCL2, IFNG
22ovarian cystic teratoma10.4CRP, MGP
23choroiditis10.4CCL2, CRP
24buphthalmos10.4IFNG, IL5
25tetanus neonatorum10.4IFNG, IL5
26x-linked intellectual disability, siderius type10.4IFNG, IL5
27radioulnar synostosis retinal pigment abnormalities10.3CRP, IL5
28myelodysplastic syndrome10.3
29progressive relapsing multiple sclerosis10.3CCL2, IFNG
30arthritis10.2
31vasculitis10.2
32encephalitis10.2
33sarcoid meningitis10.2IFNG, IL5
34secondary lacrimal atrophy10.2CCL2, IFNG
35pasteurellosis10.2IFNG, IL6
36lymphocytic colitis10.2IFNG, IL6
37herpangina10.2IFNG, IL6
38orbital lymphangioma10.2IFNG, IL6
39renal cell carcinoma 410.2IFNG, IL6
40aneurysm of sinus of valsalva10.2CRP, IL6
41aortitis10.2
42meningitis10.2
43limbic encephalitis10.2
44scn8a encephalopathy10.2IFNG, IL6
45carbon baby syndrome10.1CRP, IL6
46atrophic vulva10.1CRP, IL6
47mastocytosis cutaneous with short stature conductive hearing loss and microtia10.1IFNG, IL6
48hemophagocytic lymphohistiocytosis10.1IFNG, IL6
49midline interhemispheric variant of holoprosencephaly10.1CRP, IL6
50leukostasis10.1IFNG, IL6

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:

 52 (show all 41)
  • renal insufficiency
  • proteinuria
  • sensorineural hearing impairment
  • keratitis
  • conjunctivitis
  • cataract
  • uveitis
  • hematuria
  • purpura
  • arthritis
  • limitation of joint mobility
  • anteriorly placed anus
  • alopecia
  • laryngomalacia
  • abnormality of the aortic valve
  • pericarditis
  • dyspnea
  • vertigo
  • aneurysm
  • abnormal pattern of respiration
  • arthralgia
  • abnormality of the endocardium
  • thrombophlebitis
  • biparietal narrowing
  • venous thrombosis
  • large vessel vasculitis
  • cranial nerve paralysis
  • erythema
  • recurrent aphthous stomatitis
  • hepatitis
  • macule
  • cough
  • myocarditis
  • scleritis
  • inflammatory abnormality of the eye
  • episcleritis
  • chondritis
  • atelectasis
  • gangrene
  • glomerulopathy
  • chondritis of pinna

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
AbataceptPhase 1188332348-12-610237
Synonyms:
CTLA4-Ig
 
CTLA4-IgG4m
CTLA4Ig
CTLA4IgG4m

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 UMLS66/NDF-RT44:


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:

34
Heart, Bone, Skin, Eye, Kidney, Liver, Neutrophil

Animal Models for Relapsing Polychondritis or affiliated genes

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MGI Mouse Phenotypes related to Relapsing Polychondritis:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053877.4CCL2, COMP, CRP, IFNG, IL5, IL6

Publications for Relapsing Polychondritis

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Articles related to Relapsing Polychondritis:

(show top 50)    (show all 578)
idTitleAuthorsYear
1
Genotyping of relapsing polychondritis identified novel susceptibility HLA alleles and distinct genetic characteristics from other rheumatic diseases. (27241705)
2016
2
Relapsing Polychondritis Complicated by Vasculitis of the Omentum. (27181548)
2016
3
Saddle nose with sarcoidosis: &quot;A great imitator&quot; of relapsing polychondritis. (27321667)
2016
4
Tocilizumab-induced mucosal ulcers in a patient with relapsing polychondritis: An adverse drug reaction? (27139166)
2016
5
(18)F-FDG PET-CT: a powerful tool for the diagnosis and treatment of relapsing polychondritis. (26529231)
2015
6
New onset of immunoglobulin G4-related disease in a patient with relapsing polychondritis. (25867227)
2015
7
Cardiac involvement in relapsing polychondritis in Japan. (26361883)
2015
8
Cardiac involvement in relapsing polychondritis. (24917640)
2014
9
Serum level of soluble triggering receptor expressed on myeloid cells-1 as a biomarker of disease activity in relapsing polychondritis. (24261769)
2014
10
Central nervous system involvement in relapsing polychondritis. (25275773)
2014
11
Case of relapsing polychondritis showing elevation of anti-type II collagen antibody titer. (23855351)
2013
12
Relapsing polychondritis in childhood: three case reports, comparison with adulthood disease and literature review. (22210275)
2013
13
18F]fluorodeoxyglucose positron emission tomography imaging in a case of relapsing polychondritis. (22829695)
2012
14
Red eyes and red ears: relapsing polychondritis. (23254506)
2012
15
Patients with relapsing polychondritis and previous cartilage trauma present more autoimmunity phenomena. (21267573)
2012
16
Meningoencephalitis or meningitis in relapsing polychondritis: four case reports and a literature review. (22051026)
2011
17
Relapsing polychondritis: a new adverse event secondary to the use of tumour necrosis factor antagonists? (21593064)
2011
18
Combination of hypertrophic pachymeningitis, PR3-ANCA-positive vasculitis, and relapsing polychondritis. (21532066)
2011
19
Sustained response to tocilizumab, anti-interleukin-6 receptor antibody, in two patients with refractory relapsing polychondritis. (19106169)
2009
20
F-fluorodeoxyglucose positron emission tomography for relapsing polychondritis as a diagnostic approach and evaluation of disease activity. (21789107)
2009
21
Relapsing polychondritis in a patient with lupus erythematosus: another manifestation of neutrophilic lupus? (18594144)
2008
22
Crohn's disease, relapsing polychondritis and epidermolysis bullosa acquisita: an immune-mediated inflammatory syndrome. (18238795)
2008
23
Relapsing polychondritis: an uncommon cause of dementia. (18208859)
2008
24
Relapsing polychondritis: a rare disease of multisystem involvement. (18094743)
2007
25
Proteomic surveillance of autoantigens in relapsing polychondritis. (16490929)
2006
26
Uncommon CT findings in relapsing polychondritis. (16155171)
2005
27
Chronic lymphocytic leukaemia and concomitant relapsing polychondritis: a report on one treatment for the combined manifestation of two diseases. (15855184)
2005
28
Brain magnetic resonance imaging and single photon emission computerized tomography findings in a case of relapsing polychondritis showing cognitive impairment and personality changes. (15694246)
2005
29
Relapsing polychondritis. (15454129)
2004
30
Cardiac manifestations of relapsing polychondritis--a case report. (15378125)
2004
31
Relapsing polychondritis. (14673390)
2004
32
Relapsing polychondritis in an elderly male. (15260398)
2003
33
Relapsing polychondritis with involvement of posterior inferior cerebellar artery causing acute lateral medullary syndrome. (17041437)
2003
34
Identification of type II collagen peptide 261-273-specific T cell clones in a patient with relapsing polychondritis. (11817597)
2002
35
Cartilage-specific autoimmunity in animal models and clinical aspects in patients - focus on relapsing polychondritis. (12223103)
2002
36
Orbital mucosa-associated lymphoid tissue (MALT)-type lymphoma in a patient with relapsing polychondritis. (11465724)
2001
37
Microscopic polyangiitis in a patient with relapsing polychondritis. (11257169)
2001
38
Dermatologic manifestations of relapsing polychondritis. A study of 200 cases at a single center. (11388093)
2001
39
Anesthetic management of a patient with relapsing polychondritis. (10392683)
1999
40
Relapsing polychondritis. (9669970)
1998
41
Pregnancy in relapsing polychondritis: twenty-five pregnancies in eleven patients. (9214424)
1997
42
Tc-99m MDP bone scintigraphy in relapsing polychondritis. (9099491)
1997
43
Cardiovascular involvement in relapsing polychondritis. (9213383)
1997
44
Steroid sparing effect of methotrexate in relapsing polychondritis. (8724312)
1996
45
Joint symptoms in relapsing polychondritis. (7586772)
1995
46
Images in clinical medicine. Relapsing polychondritis. (7838192)
1995
47
The role of MRI when relapsing polychondritis is suspected but not proven. (7729987)
1995
48
Relapsing polychondritis presenting with stridor from bilateral vocal cord palsy. (1761956)
1991
49
Relapsing polychondritis. (2916981)
1989
50
Classical rheumatoid arthritis associated with relapsing polychondritis. (2810286)
1989

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

(show all 22)
idSuper pathwaysScoreTop Affiliating Genes
19.5CRP, IL6
29.4IFNG, IL6
39.4IFNG, IL6
49.4IFNG, IL6
59.2IFNG, IL5
69.2IFNG, IL5
79.2IFNG, IL5
89.0IL5, IL6
98.9ENO1, IFNG, IL6
108.9CCL2, IFNG, IL6
11
Show member pathways
8.9CCL2, IFNG, IL6
128.9CCL2, IFNG, IL6
138.9CCL2, IL6, MGP
14
Show member pathways
8.6IFNG, IL5, IL6
158.6IFNG, IL5, IL6
168.6IFNG, IL5, IL6
178.6IFNG, IL5, IL6
18
Show member pathways
8.6IFNG, IL5, IL6
198.6CCL2, COMP, IFNG, IL6
20
Show member pathways
8.5CCL2, CRP, IFNG, IL6
218.5CCL2, IL5, IL6
22
Show member pathways
8.1CCL2, IFNG, IL5, IL6

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
1extracellular regionGO:00055767.1CCL2, COMP, CRP, IFNG, IL5, IL6
2extracellular spaceGO:00056156.9CCL2, COMP, CRP, ENO1, IFNG, IL5

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1neutrophil apoptotic processGO:000178110.1IFNG, IL6
2defense response to protozoanGO:00428329.9IFNG, IL6
3acute-phase responseGO:00069539.9CRP, IL6
4negative regulation of lipid storageGO:00108889.9CRP, IL6
5regulation of vascular endothelial growth factor productionGO:00105749.9CCL2, IL6
6monocyte chemotaxisGO:00025489.8CCL2, IL6
7response to antibioticGO:00466779.7CCL2, IL6
8positive regulation of immunoglobulin secretionGO:00510249.6IL5, IL6
9response to bacteriumGO:00096179.6CCL2, IL6
10humoral immune responseGO:00069599.4CCL2, IFNG, IL6
11positive regulation of nitric oxide biosynthetic processGO:00454299.3IFNG, IL6
12response to amino acidGO:00432009.3CCL2, IL6
13positive regulation of JAK-STAT cascadeGO:00464279.2IL5, IL6
14cellular response to lipopolysaccharideGO:00712229.2CCL2, IFNG, IL6
15cellular response to dexamethasone stimulusGO:00715499.0CCL2, IL6
16cytokine-mediated signaling pathwayGO:00192218.6CCL2, IL5, IL6
17inflammatory responseGO:00069548.1CCL2, CRP, IL5, IL6

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

idNameGO IDScoreTop Affiliating Genes
1cytokine activityGO:00051258.1CCL2, IFNG, IL5, IL6

Sources for Relapsing Polychondritis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet