MCID: RLP001
MIFTS: 49

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 cataract and endocarditis, 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, bone and skin.

Wikipedia:68 Relapsing polychondritis is a multi-systemic condition characterized by inflammation and deterioration... more...

Related Diseases for Relapsing Polychondritis

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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, Bone, Skin, Eye, Kidney, Lung, Breast

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 549)
idTitleAuthorsYear
1
Epigenetic silencing of miR-375 induces trastuzumab resistance in HER2-positive breast cancer by targeting IGF1R. (24571711)
2014
2
Interleukin 10 receptor signaling: master regulator of intestinal mucosal homeostasis in mice and humans. (24507158)
2014
3
Serum paraoxonase and arylesterase activities and oxidative stress levels in patients with SSRI intoxication. (24186356)
2014
4
Cerebrospinal fluid PKR level predicts cognitive decline in Alzheimer's disease. (23320095)
2013
5
Infertility associated with meiotic failure in the tremor rat (tm/tm) is caused by the deletion of spermatogenesis associated 22. (23903057)
2013
6
Association of 8q22.3 locus in Chinese Han with idiopathic premature ovarian failure (POF). (21989058)
2012
7
Reduced dorsal anterior cingulate cortical activity during emotional regulation and top-down attentional control in generalized social phobia, generalized anxiety disorder, and comorbid generalized social phobia/generalized anxiety disorder. (22592057)
2012
8
NCI60 cancer cell line panel data and RNAi analysis help identify EAF2 as a modulator of simvastatin and lovastatin response in HCT-116 cells. (21483694)
2011
9
Histone deacetylase inhibitors and Hodgkin's lymphoma. (22123590)
2011
10
Management of perforated peptic ulcer in a district general hospital. (22041238)
2011
11
CEL-2000: A therapeutic vaccine for rheumatoid arthritis arrests disease development and alters serum cytokine/chemokine patterns in the bovine collagen type II induced arthritis in the DBA mouse model. (20074669)
2010
12
Can omeprazole reduce the incidence of hypercalcemia in dialysis patients using calcium containing phosphate binders? (20349423)
2010
13
Deciphering the transcriptional complex critical for RhoA gene expression and cancer metastasis. (20383141)
2010
14
Tumor necrosis factor alpha induces gamma-glutamyltransferase expression via nuclear factor-kappaB in cooperation with Sp1. (18996094)
2009
15
Protective effects of Ginkgo biloba extract (EGb761) and its constituents quercetin and ginkgolide B against beta-amyloid peptide-induced toxicity in SH-SY5Y cells. (19464278)
2009
16
Association of the -250G/A promoter polymorphism of the hepatic lipase gene with the risk of peripheral arterial disease in type 2 diabetic patients. (18413186)
2008
17
Sperm fibrous sheath proteins: a potential new class of target antigens for use in human therapeutic cancer vaccines. (18433090)
2008
18
IDO: a double-edged sword for T(H)1/T(H)2 regulation. (18824197)
2008
19
Three German fibrinogen Aalpha-chain amyloidosis patients with the p.Glu526Val mutation. (18500534)
2008
20
The current evidence for defective repair of oxidatively damaged DNA in Cockayne syndrome. (17603927)
2007
21
Immunohistochemical analysis of Ku70/86 expression of breast cancer tissues. (17982634)
2007
22
Expression of MuSK in in vitro-innervated human muscle. (17192614)
2006
23
2-5A induces a conformational change in the ankyrin-repeat domain of RNase L. (15849753)
2005
24
Inactivation of the p16 gene by hypermethylation and loss of heterozygosity in adenocarcinoma of the lung. (15189501)
2004
25
Normal levels of tryptophan hydroxylase immunoreactivity in the dorsal raphe of depressed suicide victims. (14756817)
2004
26
The nature of the rate-limiting steps in the refolding of the cofactor-dependent protein aspartate aminotransferase. (14522984)
2003
27
Genomic and expression analysis of the 12p11-p12 amplicon using EST arrays identifies two novel amplified and overexpressed genes. (12414650)
2002
28
HLA class I and class II allele and haplotype diversity in Martinicans. (11285127)
2001
29
Necrobiosis lipoidica associated with KAPbner's phenomenon in a patient with diabetes. (11236227)
2001
30
Thrombin receptor induction by injury-related factors in human skeletal muscle cells. (11161707)
2001
31
A digynic triploid fetus presenting with intrauterine growth restriction, severe oligohydramnios and relative macrocephaly on prenatal ultrasound. (11169300)
2000
32
The genetic epidemiology of early-onset epithelial ovarian cancer: a population-based study. (10577927)
1999
33
Type IV phosphodiesterase inhibition in experimental allergic encephalomyelitis of Lewis rats: sequential gene expression analysis of cytokines, adhesion molecules and the inducible nitric oxide synthase. (10385042)
1999
34
Paroxysmal kinesigenic choreoathetosis. (8967112)
1996
35
Mapping the functional domains of human recombinant phosphodiesterase 4A: structural requirements for catalytic activity and rolipram binding. (8863835)
1996
36
Practical aspects of aerosol therapy in asthma (1) (9141764)
1996
37
Is New Zealand's recent increase in campylobacteriosis due to changes in laboratory procedures? A survey of 69 medical laboratories. (8538964)
1995
38
Myxoid liposarcoma. (7592290)
1995
39
Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome. (8326502)
1993
40
Brainstem encephalitis and the Miller Fisher syndrome. (8382270)
1993
41
Sonographic demonstration of annular pancreas and a distal duodenal diaphragm in a newborn. (1594314)
1992
42
Muscle histochemistry in myotubular (centronuclear) myopathy. (2466417)
1989
43
Porcine pleuropneumonia associated with Haemophilus pleuropneumoniae serotype 3 in Quebec. (6523705)
1984
44
Plasma exchange in rheumatoid vasculitis. (7288759)
1981
45
Benign mucous membrane pemphigoid in an 18-year-old woman. (356737)
1978
46
Rhinosporidiosis in Raipur Madhya Pradesh, India. (5100663)
1971
47
Comments concerning esophageal hiatus hernia. (4954873)
1966
48
Beriberi heart disease. (13097096)
1953
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

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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