MCID: RLP001
MIFTS: 66

Relapsing Polychondritis malady

Nephrological, Bone categories

Summaries for Relapsing Polychondritis

Sources:
43NIH Rare Diseases, 64Wikipedia, 33MalaCards
See all sources

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NIH Rare Diseases:43 Relapsing polychondritis is a condition that affects connective tissue, particularly cartilage. cartilage is a tough but flexible tissue that covers the ends of your bones at a joint, and gives shape and support to other parts of your body. early symptoms of relapsing polychondritis may include irritation, redness, and swelling (inflammation) of the ears, nose, and/or eye. a person may experience arthritis involving multiple joints as well.  relapsing polychondritis may affect the inner ear, heart, and skin and can cause sensorineural deafness, vertigo, aortic valve regurgitation, mitral valve regurgitation, and aneurysms. last updated: 1/6/2010

MalaCards: Relapsing Polychondritis, also known as chronic atrophic polychondritis, is related to adenocarcinoma and acute pancreatitis, and has symptoms including respiratory distress/dyspnea/respiratory failure/lung volume reduction, cataract/lens opacification and arthritis/synovitis/synovial proliferation. An important gene associated with Relapsing Polychondritis is COMP (cartilage oligomeric matrix protein), and among its related pathways are Rho Family GTPases and Spinal Cord Injury. The drug dapsone and the compounds cycloheximide and cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and kidney, and related mouse phenotypes are skeleton and immune system.

Wikipedia:64 Relapsing polychondritis (also known as \"Atrophic polychondritis,\" and \"Systemic chondromalacia\") is... more...

Aliases & Classifications for Relapsing Polychondritis

Sources:
8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 49Orphanet, 45Novoseek, 61UMLS, 35MeSH, 57SNOMED-CT, 62UMLS via Orphanet, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Nephrological, Bone


Characteristics (Orphanet epidemiological data):

49
relapsing polychondritis:
Age of onset: Variable


Aliases & Descriptions:

relapsing polychondritis 8 43 10 49
chronic atrophic polychondritis 43
polychondritis, relapsing 61
chondromalacia, systemic 8
polychondritis relapsing 45
recurrent polychondritis 43
recurrence 61


External Ids:

Disease Ontology8 DOID:2556
MeSH35 D011081
UMLS via Orphanet62 C0032453
MESH via Orphanet36 D011081
ICD10 via Orphanet26 M94.1
SNOMED-CT via Orphanet58 72275000
ICD1025 M94.1

Related Diseases for Relapsing Polychondritis

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 2633)
idRelated DiseaseScoreTop Affiliating Genes
1adenocarcinoma30.9IL1RAPL2, S100A8
2acute pancreatitis30.9IL8, IL1RAPL2, IL10, CRP
3tonsillitis30.9CD79A, CRP
4adenoma30.9S100A8
5thromboembolism30.8APOH
6arthritis30.8IL8, IL1RAPL2, IL10, MATN1, PRTN3, CRP
7vasculitis30.8IL1RAPL2, CD79A, PRTN3, CRP, APOH, CCL2
8colorectal cancer30.8S100A8
9acute leukemia30.7PRTN3, IL7
10astrocytoma30.6CCL4
11antiphospholipid syndrome30.5APOH, CD79A
12uveitis30.5IL10, IFNG, CCL2, CCL4
13bacterial vaginosis30.4IL8
14alopecia areata30.4IFNG
15ankylosing spondylitis30.4CRP, PRTN3, CD79A, IL1RAPL2
16asthma30.4CCL4, CCL2, IFNG, S100A8, PRTN3, CD79A
17tuberculosis30.4CCL4, IFNG, CRP, CD79A, IL10, IL7
18blindness30.3COL2A1
19systemic lupus erythematosus30.3CRP
20familial mediterranean fever30.3CRP
21urticaria30.3IL1RAPL2
22psoriatic arthritis30.3COMP, CRP, IL1RAPL2
23cystic fibrosis30.3IL8, PRTN3, S100A8
24carotid stenosis30.3CRP
25infertility30.2CD79A
26thrombophlebitis30.2APOH
27sinusitis30.2CD79A, PRTN3
28nephritis30.1IL1RAPL2, CD79A, PRTN3, APOH, CCL2
29toxoplasmosis30.1CD79A
30hyperhomocysteinemia30.1CCL2, APOH, CRP
31wegener's granulomatosis30.1PRTN3
32polyarteritis nodosa30.1PRTN3
33thyroiditis30.1CD79A
34crohn's disease30.1CRP
35aortic aneurysm30.1CRP
36stroke, ischemic30.1APOH
37graves' disease30.1IFNG
38retinal vasculitis30.1APOH
39rheumatic fever30.1CRP
40cryoglobulinemia30.1CD79A, APOH
41ulcerative colitis30.1CRP, PRTN3
42bacteriuria30.1CRP
43thrombocytopenia30.1IL7, CD79A, APOH
44bacterial meningitis30.1CCL4, CRP, IL8
45vascular disease30.1CCL2, APOH, CRP, PRTN3
46amyloidosis30.1IL1RAPL2, CD79A, CRP
47hepatitis c30.1IL10, IFNG, CCL4
48synovitis30.1IL8, IL7, MATN1, CRP, COL2A1, COMP
49arthropathy30.1IL1RAPL2, CRP, S100A8, COL2A1, COMP
50acute myocardial infarction30.1CRP

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



Diseases related to relapsing polychondritis

Clinical Features for Relapsing Polychondritis

Sources:
49Orphanet
See all sources


Symptoms:

49 (show all 34)
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • cataract/lens opacification
  • arthritis/synovitis/synovial proliferation
  • restricted joint mobility/joint stiffness/ankylosis
  • sensorineural deafness/hearing loss
  • proteinuria
  • renal failure
  • cranial nerves palsy
  • fever/chilling
  • laryngomalacia
  • articular/joint pain/arthralgia
  • hepatitis/icterus/cholestasis
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • macules
  • aortic valve anomaly/incompetence/insufficiency/regurgitation/bicuspid
  • cough
  • gangrena/necrosis
  • respiratory rhythm disorder
  • pericardium anomalies/pericarditis/absence/cysts/pericardial effusion
  • myocardium anomalies/myocarditis
  • hematuria/microhematuria
  • purpura/petichiae
  • renal glomerular defect/glomerulopathy
  • dizziness
  • endocardium anomalies/fibroelastosis/endocarditis
  • arterial aneurism (excluding aorta)
  • atelectasia/pulmonary collapse
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • vascularitis/vasculitides/arteritis
  • arterial embolism/thrombosis
  • alopecia
  • enanthema/aphtosa/aphta/leukoplakia
  • nasal chondritis/nose chondritis
  • pinnae chondritis

Drugs & Therapeutics for Relapsing Polychondritis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Relapsing Polychondritis

Drug clinical trials:

Search ClinicalTrials for Relapsing Polychondritis

Search NIH Clinical Center for Relapsing Polychondritis

Search CenterWatch for Relapsing Polychondritis

Inferred drug relations via UMLS61/NDF-RT41:

Genetic Tests for Relapsing Polychondritis

Anatomical Context for Relapsing Polychondritis

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Relapsing Polychondritis:

33
Skin, Brain, Kidney, Lung, Bone marrow, Heart, Thyroid, Prostate, Myeloid, Monocytes, T cells, B cells, Fetal brain, Fetal lung, Trachea, Fetal thyroid, Pituitary

Animal Models for Relapsing Polychondritis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Relapsing Polychondritis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053909.6COMP, COL2A1, MATN1
2MP:00053876.3COMP, COL2A1, CCL2, IFNG, CRP, PRTN3

Publications for Relapsing Polychondritis

Sources:
51PubMed
See all sources

Articles related to Relapsing Polychondritis:

(show top 50)    (show all 501)
idTitleAuthorsYear
1
Sustained remission of pediatric relapsing polychondritis with adalimumab. (24356482)
2014
2
Abatacept in relapsing polychondritis. (23956250)
2013
3
Airway compromise in a special situation--relapsing polychondritis. (23378662)
2013
4
Erythema multiforme: a rare skin manifestation of relapsing polychondritis. (23495949)
2013
5
Treatment of relapsing polychondritis with tocilizumab. (23818726)
2013
6
Relapsing polychondritis complicated by giant cell myocarditis and myositis. (23774555)
2013
7
Meningoencephalitis or meningitis in relapsing polychondritis: four case reports and a literature review. (22051026)
2011
8
Unusual association of seronegative, nonparaneoplastic limbic encephalitis and relapsing polychondritis in a patient with history of thymectomy for myasthenia: a case study. (20706846)
2011
9
Relapsing polychondritis and familial Mediterranean fever--an association. (21243389)
2011
10
Efficacy of adalimumab for a refractory case of relapsing polychondritis with reduction of pro-inflammatory cytokines. (21509650)
2011
11
Sweet's Syndrome and relapsing polychondritis signal myelodysplastic syndrome. (22068803)
2011
12
Pediatric-onset relapsing polychondritis: case series and systematic review. (19880136)
2010
13
Relapsing polychondritis and airway involvement. (19017885)
2009
14
Clinical challenges and images in GI. Image 1. Relapsing polychondritis. (19414078)
2009
15
Fluorodeoxyglucose PET in relapsing polychondritis. (18234765)
2008
16
"Prominent ear sign" on diffusion-weighted magnetic resonance imaging in relapsing polychondritis. (18770003)
2008
17
White matter lesions in a group of six patients with relapsing polychondritis. (18551163)
2008
18
Optic neuropathy associated with periostitis in relapsing polychondritis. (17414867)
2007
19
Relapsing polychondritis. (14673390)
2004
20
Critical role of the major histocompatibility complex and IL-10 in matrilin-1-induced relapsing polychondritis in mice. (15380048)
2004
21
Recurrent multifocal Mycobacterium kansasii infection in an immunosuppressed patient with myelodysplasia and relapsing polychondritis. (15502000)
2004
22
Nonparaneoplastic limbic encephalitis with relapsing polychondritis. (15140611)
2004
23
Sweet's syndrome revealing relapsing polychondritis. (15485526)
2004
24
Relapsing polychondritis: reversible airway obstruction is not always asthma. (15008614)
2004
25
Severe relapsing polychondritis occurring after ear piercing. (14719220)
2003
26
Colchicine and indomethacin for the treatment of relapsing polychondritis. (11807462)
2002
27
Multiple cardiovascular complications in a patient with relapsing polychondritis. (12233932)
2002
28
Leflunomide induced fevers, thrombocytosis, and leukocytosis in a patient with relapsing polychondritis. (11824960)
2002
29
When is a biopsy justified in a case of relapsing polychondritis? (10605566)
1999
30
A new animal model for relapsing polychondritis, induced by cartilage matrix protein (matrilin-1). (10487773)
1999
31
Relapsing polychondritis. (9670304)
1998
32
A case of relapsing polychondritis with IgA nephropathy]. (9884550)
1998
33
Aortitis in relapsing polychondritis. (9973170)
1998
34
Aortic valve replacement in relapsing polychondritis. (9240304)
1997
35
Cutaneous panniculitis and relapsing polychondritis: two cases. (8944357)
1996
36
Images in clinical medicine. Relapsing polychondritis. (7838192)
1995
37
The role of MRI when relapsing polychondritis is suspected but not proven. (7729987)
1995
38
Relapsing polychondritis and BehAset's syndrome in a patient with HIV infection. (7495354)
1995
39
Relapsing polychondritis with dementia. (9081972)
1995
40
Stroke as initial manifestation of relapsing polychondritis. (8206749)
1994
41
Cyclosporin A in the treatment of relapsing polychondritis with severe recurrent eye involvement. (8461940)
1993
42
Nebulized racemic ephedrine in the treatment of acute exacerbations of laryngeal relapsing polychondritis. (1541897)
1992
43
Relapsing polychondritis: new pulmonary manifestations. (1573323)
1992
44
How should I treat a 24-year-old female with a 6-year history of relapsing polychondritis, mainly affecting the nasal cartilage, and to a lesser extent the auricular cartilages? (1747694)
1991
45
Relapsing polychondritis: bone marrow and circular fibrous nodules in the aorta. (1700671)
1990
46
A case of relapsing polychondritis associated with hemolytic anemia. (2214354)
1990
47
Classical rheumatoid arthritis associated with relapsing polychondritis. (2810286)
1989
48
Relapsing polychondritis: an unusual presentation. (3356935)
1988
49
IgA nephropathy in relapsing polychondritis. (3287308)
1988
50
Relapsing polychondritis with high anticollagen-II antibody titers. (3654556)
1987

Genetic Variations for Relapsing Polychondritis

Expression for genes affiliated with Relapsing Polychondritis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Relapsing Polychondritis

Search GEO for disease gene expression data for Relapsing Polychondritis.

Pathways for genes affiliated with Relapsing Polychondritis

Sources:
52QIAGEN, 38NCBI BioSystems Database, 54Reactome, 30KEGG, 53R&D Systems
See all sources

Compounds for genes affiliated with Relapsing Polychondritis

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 29IUPHAR, 60Tocris Bioscience, 24HMDB, 2BitterDB
See all sources

Compounds related to Relapsing Polychondritis according to GeneCards/GeneDecks:

(show top 50)    (show all 141)
idCompoundScoreTop Affiliating Genes
1cycloheximide4510.2COL2A1, IL1RAPL2
2cyclophosphamide45 50 1112.1CRP, IL7, APOH
3endotoxin4510.1S100A8, APOH
4gm-csf45 2910.8IL10, IFNG
5amphotericin b459.7CCL4, IL1RAPL2
6cyclosporin a45 29 6011.6IFNG, CD79A, IL1RAPL2
7azithromycin45 1110.6CD79A, CRP, IL10, IL8
8alpha-galactosylceramide459.4IFNG, CD1D, IL10, IL7
9allergens459.4IL10, CCL4, IL7, IFNG
10toxin-1459.4CCL2, IL8, IL10, CCL4
11okt3459.4IL7, CD79A, CRP, IFNG, IL10
128-isoprostane459.4IL8, CCL2, APOH, IL10, CRP
13polymyxin b459.4CCL2, IFNG, IL10, IL8
14mcp 1459.4IL8, CCL2, CCL4, IL10
15alginate459.3COMP, MATN1, COL2A1, CD79A
16mip 1alpha459.3IL8, IL10, CCL4, CCL2
17p00001459.3COMP, S100A8, IL1RAPL2
18il-12459.3IL7, IL8, IL10, IFNG, CCL2
19imiquimod45 29 60 1112.2IL8, IL10, IFNG, IL1RAPL2
20sulfasalazine45 29 50 1112.2CD79A, CRP, IL8, CCL2, IL1RAPL2
21superoxide45 2410.2IL1RAPL2, CCL2, CCL4, APOH
22lipoteichoic acid459.2IL10, IL8, CCL2, APOH
23groalpha459.1IL10, IL8, CCL4, CCL2
24triptolide459.0IL8, IFNG, CCL2, CCL4
25dexamethasone45 50 29 1112.0S100A8, IL7, CD79A, COL2A1, IL1RAPL2
26tarc459.0CCL4, IL10, IFNG, CCL2, IL8
27ccl345 2910.0IL8, IL10, CCL2, IFNG, CCL4
28adalimumab45 50 1110.9COMP, CRP, IFNG, CD79A, IL10, IL1RAPL2
29prednisolone45 29 1110.8CD79A, COMP, IL1RAPL2, APOH, CCL4, CRP
30rituximab45 50 1110.8CD79A, PRTN3, APOH, IL10, CRP
31glycosaminoglycan458.8COMP, COL2A1, CCL4, MATN1, IL1RAPL2
32neopterin458.8CRP, CD79A, IL10, IL1RAPL2, IFNG, IL8
33azathioprine45 50 2 1111.8CRP, CD79A, IL10, APOH, PRTN3
34rantes458.6IL1RAPL2, IL7, S100A8, IFNG, CCL4
35etanercept45 50 1110.6IL8, IL1RAPL2, IL10, CRP, APOH, IFNG
36sb 20358045 609.4CCL2, IFNG, CRP, IL10, IL8, CCL4
37methotrexate45 50 1110.4IL1RAPL2, S100A8, IL10, CRP, APOH, CD79A
38ivig458.3CD79A, CCL4, IFNG, IL10, APOH, CRP
39fibrinogen458.3IL1RAPL2, IL7, CD79A, CRP, APOH, CCL2
40il 10458.3IL1RAPL2, IL7, IL10, IFNG, CCL2, CCL4
41simvastatin45 50 60 29 11 2413.2IL1RAPL2, IL8, CCL4, IL10, CRP, IFNG
42infliximab45 50 1110.1CRP, PRTN3, IL10, IL1RAPL2, APOH, IFNG
43oxygen45 249.0PRTN3, CCL2, COL2A1, IL8, IL1RAPL2, S100A8
44creatinine457.9CD79A, S100A8, APOH, CRP, CCL4, IL1RAPL2
45vegf457.5CCL4, CD79A, CRP, IL8, APOH, IFNG
46histamine45 29 249.4CCL2, IL7, IL8, S100A8, IL10, CD79A
47lipid457.2IL7, CD1D, PRTN3, CRP, COMP, COL2A1
48nitric oxide45 11 248.8S100A8, COL2A1, CCL4, CCL2, IFNG, APOH
49calcium45 50 11 249.3CRP, PRTN3, IL1RAPL2, IL7, S100A8, CCL4
50retinoic acid45 247.2COMP, IFNG, S100A8, PRTN3, CCL4, COL2A1

GO Terms for genes affiliated with Relapsing Polychondritis

Sources:
16Gene Ontology
See all sources

Cellular components related to Relapsing Polychondritis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:0055767.0COMP, IL7, MATN1, CRP, S100A8, IFNG
2extracellular spaceGO:0056156.5COMP, IL10, CRP, APOH, S100A8, IFNG

Biological processes related to Relapsing Polychondritis according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of MHC class II biosynthetic processGO:04534810.0IL10, IFNG
2response to molecule of bacterial originGO:00223710.0IL8, IL10
3regulation of gene expressionGO:0104689.9COL2A1, IL10, IL7
4humoral immune responseGO:0069599.8IFNG, IL7, CCL2
5organ morphogenesisGO:0098879.8IL7, COMP, CCL2
6B cell proliferationGO:0421009.8IL10, CD79A
7negative regulation of growth of symbiont in hostGO:0441309.8IFNG, IL10
8endoplasmic reticulum unfolded protein responseGO:0309689.6CCL2, IL8, IFNG
9response to ethanolGO:0454719.4CCL2, CRP, S100A8
10cellular response to lipopolysaccharideGO:0712229.4IFNG, CCL2, IL10, IL8
11cellular component movementGO:0069289.3IFNG, CCL4, IL8
12neutrophil chemotaxisGO:0305939.1CCL2, IFNG, IL8, S100A8
13defense response to bacteriumGO:0427428.8IFNG, S100A8, IL10
14inflammatory responseGO:0069548.4CCL4, CCL2, S100A8, CRP, IL10, IL8

Molecular functions related to Relapsing Polychondritis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chemokine activityGO:0080099.3IL8, CCL2, CCL4
2cytokine activityGO:0051258.7IL7, IL10, IFNG, CCL4

Products for genes affiliated with Relapsing Polychondritis

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Relapsing Polychondritis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet