MCID: RLP001
MIFTS: 69

Relapsing Polychondritis malady

Nephrological diseases, Bone diseases categories

Summaries for Relapsing Polychondritis

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42NIH Rare Diseases, 63Wikipedia, 32MalaCards
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NIH Rare Diseases:42 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 pancreatitis and breast cancer, and has symptoms including renal glomerular defect/glomerulopathy, renal failure and proteinuria. 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 heart, bone and eye, and related mouse phenotypes are skeleton and immune system.

Wikipedia:63 Relapsing polychondritis (also known as \"Atrophic polychondritis,\" and \"Systemic chondromalacia\") is... more...

Aliases & Classifications for Relapsing Polychondritis

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8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 48Orphanet, 44Novoseek, 60UMLS, 34MeSH, 56SNOMED-CT, 61UMLS via Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 25ICD10
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

48
relapsing polychondritis:
Age of onset: Variable


Aliases & Descriptions:

relapsing polychondritis 8 42 10 48
chronic atrophic polychondritis 42
polychondritis, relapsing 60
chondromalacia, systemic 8
polychondritis relapsing 44
recurrent polychondritis 42
recurrence 60


External Ids:

Disease Ontology8 DOID:2556
MeSH34 D011081
UMLS via Orphanet61 C0032453
MESH via Orphanet35 D011081
ICD10 via Orphanet26 M94.1
SNOMED-CT via Orphanet57 72275000
ICD1025 M94.1

Related Diseases for Relapsing Polychondritis

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Relapsing Polychondritis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 2426)
idRelated DiseaseScoreTop Affiliating Genes
1pancreatitis31.1CRP, IL10
2breast cancer31.1IL1RAPL2, IL7, PRTN3, S100A8, CCL4
3prostate cancer31.0S100A8, IL7
4hepatocellular carcinoma31.0S100A8, IL1RAPL2
5osteomyelitis30.9CRP
6adenocarcinoma30.9IL1RAPL2, S100A8
7tonsillitis30.9CD79A, CRP
8acute pancreatitis30.9IL8, IL1RAPL2, IL10, CRP
9adenoma30.9S100A8
10ovarian cancer30.8IL1RAPL2
11arthritis30.8IL8, IL1RAPL2, IL10, MATN1, PRTN3, CRP
12colorectal cancer30.8S100A8
13candidiasis30.8IFNG, CD79A
14vasculitis30.8IL1RAPL2, CD79A, PRTN3, CRP, APOH, CCL2
15encephalitis30.7CCL2, CCL4
16acute leukemia30.7PRTN3, IL7
17esophagitis30.7S100A8
18herpes simplex30.7CD79A, IL7, IL1RAPL2
19peritonitis30.7CCL2, CRP, PRTN3
20melanoma30.7COL2A1, CCL4, IFNG, PRTN3, IL10, IL7
21meningitis30.7CCL4, CRP, CD79A, IL8
22otitis media30.6CD79A
23rheumatoid arthritis30.6CD1D, PRTN3, CRP, APOH, S100A8, IFNG
24scleritis30.6PRTN3
25astrocytoma30.6CCL4
26dementia30.6IL1RAPL2
27duodenitis30.5S100A8
28wegener's granulomatosis30.5PRTN3
29antiphospholipid syndrome30.5APOH, CD79A
30uveitis30.5IL10, IFNG, CCL2, CCL4
31myocardial infarction30.5IL1RAPL2, CRP
32cervical cancer30.5IL7
33myeloid leukemia30.4PRTN3
34bacterial vaginosis30.4IL8
35psoriasis30.4S100A8, IFNG, CCL2, CCL4, IL10, IL7
36alopecia areata30.4IFNG
37lupus erythematosus30.4CD79A, APOH
38hepatitis b30.4CD79A, IFNG
39ankylosing spondylitis30.4CRP, PRTN3, CD79A, IL1RAPL2
40glioblastoma multiforme30.4IL8
41peptic ulcer30.4IL8, S100A8
42tuberculosis30.3CCL4, IFNG, CRP, CD79A, IL10, IL7
43asthma30.3CCL4, CCL2, IFNG, S100A8, PRTN3, CD79A
44hypertension30.3CD79A, CRP, CCL2
45cystic fibrosis30.3IL8, PRTN3, S100A8
46infertility30.3CD79A
47crohn's disease30.3CRP
48systemic lupus erythematosus30.3CRP
49familial mediterranean fever30.3CRP
50neuropathy30.3CD79A

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



Diseases related to relapsing polychondritis

Clinical Features for Relapsing Polychondritis

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48Orphanet
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Symptoms:

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

Drugs & Therapeutics for Relapsing Polychondritis

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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 UMLS60/NDF-RT40:

Genetic Tests for Relapsing Polychondritis

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Anatomical Context for Relapsing Polychondritis

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32MalaCards
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MalaCards organs/tissues related to Relapsing Polychondritis:

32
Heart, Bone, Eye, Skin, Lung, Bone marrow, Myeloid, Trachea, Brain, Pituitary, Kidney, Thyroid, Prostate, Testes, Monocytes, T cells

Animal Models for Relapsing Polychondritis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Relapsing Polychondritis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053909.6MATN1, COL2A1, COMP
2MP:00053876.3IL8, COMP, COL2A1, CCL2, IFNG, CRP

Publications for Relapsing Polychondritis

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Sources:
50PubMed
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Articles related to Relapsing Polychondritis:

(show top 50)    (show all 501)
idTitleAuthorsYear
1
Respiratory insufficiency and dynamic hyperinflation after rigid bronchoscopy in a patient with relapsing polychondritis -a case report-. (24427466)
2013
2
A case of relapsing polychondritis and hypogammaglobulinemia. (23886240)
2013
3
Unusual association between Budd-Chiari syndrome secondary to antiphospholipid syndrome and relapsing polychondritis: a case report and review of the literature. (23512377)
2013
4
Red eyes and red ears: relapsing polychondritis. (23254506)
2012
5
Patients with relapsing polychondritis and previous cartilage trauma present more autoimmunity phenomena. (21267573)
2012
6
Papular and annular fixed urticarial eruption: a characteristic skin manifestation in patients with relapsing polychondritis. (21596456)
2011
7
Sweet's syndrome after adalimumab therapy for refractory relapsing polychondritis. (22670004)
2011
8
Paraneoplastic relapsing polychondritis and Sweet syndrome coexisting in a patient with myelodysplasia. (22016294)
2011
9
Relapsing polychondritis-like ear disease responding to etanercept in two patients with psoriasis and psoriatic arthritis. (21496717)
2011
10
Treatment of relapsing polychondritis with the TNF-alpha antagonist adalimumab. (20495939)
2010
11
Pulmonary CT findings in relapsing polychondritis. (20350245)
2010
12
Tracheobronchial involvement as a sole manifestation of relapsing polychondritis. (23168652)
2010
13
Relapsing polychondritis: an uncommon cause of dementia. (21686652)
2009
14
Anesthetic management of a child with relapsing polychondritis: a case report. (19781377)
2009
15
Treatment of relapsing polychondritis with rituximab: a retrospective study of nine patients. (19405005)
2009
16
Successful treatment of recalcitrant relapsing polychondritis with monoclonal antibodies. (18721218)
2009
17
Relapsing polychondritis in a child with common variable immunodeficiency. (19416387)
2009
18
Aseptic meningitis with relapsing polychondritis mimicking bacterial meningitis. (19834279)
2009
19
Relapsing polychondritis in a patient with familial Mediterranean fever and amyloidosis. (19026131)
2008
20
Paraneoplastic relapsing polychondritis. (17638749)
2007
21
Endobronchial stenting for respiratory complications in relapsing polychondritis. (16508698)
2007
22
Rapidly progressive coronary ostial stenosis after aortic valve replacement in relapsing polychondritis. (16733177)
2006
23
Sweet's syndrome and relapsing polychondritis: is their appearance in the same patient a coincidental occurrence or a bona fide association of these conditions? (15485540)
2004
24
Successful treatment of relapsing polychondritis with infliximab. (15485019)
2004
25
Non-herpetic limbic encephalitis associated with relapsing polychondritis. (15489409)
2004
26
Treatment of respiratory complications in recalcitrant relapsing polychondritis with infliximab. (12923271)
2003
27
Relapsing polychondritis. (14594576)
2003
28
Identification of type II collagen peptide 261-273-specific T cell clones in a patient with relapsing polychondritis. (11817597)
2002
29
Concurrence of relapsing polychondritis and psoriatic arthritis. (17041338)
2002
30
Amelioration of relapsing polychondritis in a child treated with oral collagen. (12187928)
2002
31
Outcome of pregnancy in a patient with relapsing polychondritis and pyoderma gangrenosum. (12447644)
2002
32
Composition of urinary glycosaminoglycans in a patient with relapsing polychondritis. (12270767)
2002
33
Otolaryngological aspects of relapsing polychondritis: course and outcome. (11799863)
2001
34
Exudative retinal detachment in relapsing polychondritis : case report and literature review. (11382646)
2001
35
Tracheobronchial involvement in relapsing polychondritis. (10867603)
2000
36
Acute febrile neutrophilic dermatosis (Sweet's syndrome) in a patient with relapsing polychondritis. (9892977)
1998
37
Treatment of diffuse tracheomalacia secondary to relapsing polychondritis with continuous positive airway pressure. (9404780)
1997
38
Isolated mitral regurgitation complicating relapsing polychondritis. (9226293)
1997
39
Relapsing polychondritis associated with rheumatoid arthritis. (8683835)
1995
40
Relapsing polychondritis: case report and review of the literature. (7956342)
1994
41
Ocular manifestations of relapsing polychondritis. Three case histories. (7835185)
1994
42
Relapsing polychondritis in childhood: a rare observation studied by CT and MRI. (1491917)
1992
43
Erythema elevatum diutinum in a patient with relapsing polychondritis. (1569248)
1992
44
Relapsing polychondritis--a report on two Chinese patients with severe costal chondritis. (2393244)
1990
45
Relapsing polychondritis. (2916981)
1989
46
The radiological manifestations of relapsing polychondritis. (2924496)
1989
47
Relapsing polychondritis: an unusual cause of PUO in an Asian lady. (3203192)
1988
48
Relapsing polychondritis and Weber-Christian disease. (3203193)
1988
49
Renal involvement in relapsing polychondritis. (3574118)
1987
50
Analysis of increased urinary acid glycosaminoglycans in a patient with relapsing polychondritis. (2448998)
1987

Genetic Variations for Relapsing Polychondritis

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Expression for genes affiliated with Relapsing Polychondritis

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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Sources:
51QIAGEN, 37NCBI BioSystems Database, 53Reactome, 29KEGG, 52R&D Systems
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Compounds for genes affiliated with Relapsing Polychondritis

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44Novoseek, 49PharmGKB, 11DrugBank, 28IUPHAR, 59Tocris Bioscience, 24HMDB, 2BitterDB
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Compounds related to Relapsing Polychondritis according to GeneCards/GeneDecks:

(show top 50)    (show all 141)
idCompoundScoreTop Affiliating Genes
1cycloheximide4410.2COL2A1, IL1RAPL2
2cyclophosphamide44 49 1112.1CRP, IL7, APOH
3endotoxin4410.1S100A8, APOH
4gm-csf44 2810.8IL10, IFNG
5amphotericin b449.7CCL4, IL1RAPL2
6cyclosporin a44 28 5911.6IFNG, CD79A, IL1RAPL2
7azithromycin44 1110.6CD79A, CRP, IL10, IL8
8alpha-galactosylceramide449.4IFNG, CD1D, IL10, IL7
9allergens449.4IL10, CCL4, IL7, IFNG
10toxin-1449.4CCL2, IL8, IL10, CCL4
11okt3449.4IL7, CD79A, CRP, IFNG, IL10
128-isoprostane449.4IL8, CCL2, APOH, IL10, CRP
13polymyxin b449.4CCL2, IFNG, IL10, IL8
14mcp 1449.4IL8, CCL2, CCL4, IL10
15alginate449.3COMP, MATN1, COL2A1, CD79A
16mip 1alpha449.3IL8, IL10, CCL4, CCL2
17p00001449.3COMP, S100A8, IL1RAPL2
18il-12449.3IL7, IL8, IL10, IFNG, CCL2
19imiquimod44 28 59 1112.2IL8, IL10, IFNG, IL1RAPL2
20sulfasalazine44 28 49 1112.2CD79A, CRP, IL8, CCL2, IL1RAPL2
21superoxide44 2410.2IL1RAPL2, CCL2, CCL4, APOH
22lipoteichoic acid449.2IL10, IL8, CCL2, APOH
23groalpha449.1IL10, IL8, CCL4, CCL2
24triptolide449.0IL8, IFNG, CCL2, CCL4
25dexamethasone44 49 28 1112.0S100A8, IL7, CD79A, COL2A1, IL1RAPL2
26tarc449.0CCL4, IL10, IFNG, CCL2, IL8
27ccl344 2810.0IL8, IL10, CCL2, IFNG, CCL4
28adalimumab44 49 1110.9COMP, CRP, IFNG, CD79A, IL10, IL1RAPL2
29prednisolone44 28 1110.8CD79A, COMP, IL1RAPL2, APOH, CCL4, CRP
30rituximab44 49 1110.8CD79A, PRTN3, APOH, IL10, CRP
31glycosaminoglycan448.8COMP, COL2A1, CCL4, MATN1, IL1RAPL2
32neopterin448.8CRP, CD79A, IL10, IL1RAPL2, IFNG, IL8
33azathioprine44 49 2 1111.8CRP, CD79A, IL10, APOH, PRTN3
34rantes448.6IL1RAPL2, IL7, S100A8, IFNG, CCL4
35etanercept44 49 1110.6IL8, IL1RAPL2, IL10, CRP, APOH, IFNG
36sb 20358044 599.4CCL2, IFNG, CRP, IL10, IL8, CCL4
37methotrexate44 49 1110.4IL1RAPL2, S100A8, IL10, CRP, APOH, CD79A
38ivig448.3CD79A, CCL4, IFNG, IL10, APOH, CRP
39fibrinogen448.3IL1RAPL2, IL7, CD79A, CRP, APOH, CCL2
40il 10448.3IL1RAPL2, IL7, IL10, IFNG, CCL2, CCL4
41simvastatin44 49 59 28 11 2413.2IL1RAPL2, IL8, CCL4, IL10, CRP, IFNG
42infliximab44 49 1110.1CRP, PRTN3, IL10, IL1RAPL2, APOH, IFNG
43oxygen44 249.0PRTN3, CCL2, COL2A1, IL8, IL1RAPL2, S100A8
44creatinine447.9CD79A, S100A8, APOH, CRP, CCL4, IL1RAPL2
45vegf447.5CCL4, CD79A, CRP, IL8, APOH, IFNG
46histamine44 28 249.4CCL2, IL7, IL8, S100A8, IL10, CD79A
47lipid447.2IL7, CD1D, PRTN3, CRP, COMP, COL2A1
48nitric oxide44 11 248.8S100A8, COL2A1, CCL4, CCL2, IFNG, APOH
49calcium44 49 11 249.3CRP, PRTN3, IL1RAPL2, IL7, S100A8, CCL4
50retinoic acid44 247.2COMP, IFNG, S100A8, PRTN3, CCL4, COL2A1

GO Terms for genes affiliated with Relapsing Polychondritis

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16Gene Ontology
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Cellular components related to Relapsing Polychondritis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:0055767.0COL2A1, CCL4, CCL2, IFNG, S100A8, CRP
2extracellular spaceGO:0056156.5IL8, COMP, COL2A1, CCL4, CCL2, 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:04534810.0IFNG, IL10
2response to molecule of bacterial originGO:00223710.0IL10, IL8
3regulation of gene expressionGO:0104689.9IL7, IL10, COL2A1
4humoral immune responseGO:0069599.8IL7, IFNG, CCL2
5organ morphogenesisGO:0098879.8COMP, CCL2, IL7
6B cell proliferationGO:0421009.8CD79A, IL10
7negative regulation of growth of symbiont in hostGO:0441309.8IL10, IFNG
8endoplasmic reticulum unfolded protein responseGO:0309689.6IL8, IFNG, CCL2
9response to ethanolGO:0454719.4CRP, S100A8, CCL2
10cellular response to lipopolysaccharideGO:0712229.4CCL2, IFNG, IL10, IL8
11cellular component movementGO:0069289.3IL8, IFNG, CCL4
12neutrophil chemotaxisGO:0305939.1IL8, S100A8, IFNG, CCL2
13defense response to bacteriumGO:0427428.8IL10, S100A8, IFNG
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

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Sources for Relapsing Polychondritis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet