MCID: RLP001
MIFTS: 54

Relapsing Polychondritis

Categories: Rare diseases, Nephrological diseases, Bone diseases

Aliases & Classifications for Relapsing Polychondritis

MalaCards integrated aliases for Relapsing Polychondritis:

Name: Relapsing Polychondritis 12 53 59 37 15
Polychondritis, Relapsing 44 73
Chronic Atrophic Polychondritis 53
Chondromalacia, Systemic 12
Recurrent Polychondritis 53
Polychondritis Relapsing 55

Characteristics:

Orphanet epidemiological data:

59
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:



Summaries for Relapsing Polychondritis

NIH Rare Diseases : 53 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.

MalaCards based summary : Relapsing Polychondritis, also known as polychondritis, relapsing, is related to meningitis and central nervous system vasculitis. An important gene associated with Relapsing Polychondritis is COMP (Cartilage Oligomeric Matrix Protein), and among its related pathways/superpathways are Folate Metabolism and ECM proteoglycans. The drugs Abatacept and Immunosuppressive Agents have been mentioned in the context of this disorder. Affiliated tissues include heart, bone and eye, and related phenotypes are renal insufficiency and proteinuria

Wikipedia : 76 Relapsing polychondritis is a multi-systemic condition characterized by repeated episodes of... more...

Related Diseases for Relapsing Polychondritis

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

(show top 50) (show all 277)
# Related Disease Score Top Affiliating Genes
1 meningitis 29.6 CRP IFNG IL6
2 central nervous system vasculitis 29.5 CRP IL6
3 spondyloarthropathy 29.5 IFNG IL6
4 polyarteritis nodosa 29.4 CRP IL6
5 conjunctivitis 29.2 IFNG IL6
6 psoriatic arthritis 29.1 COMP CRP IL6
7 brucellosis 29.1 CRP IFNG IL6
8 synovitis 28.9 COMP CRP IL6
9 rheumatoid arthritis 28.9 COMP CRP IFNG IL6
10 temporal arteritis 28.8 CRP IFNG IL6
11 autoimmune disease 28.8 ENO1 IFNG IL6
12 bacterial meningitis 28.7 CRP IL6
13 thrombocytosis 28.6 CRP IL6
14 pneumonia 28.6 CRP IL6 TREM1
15 vascular disease 28.3 CRP IL6 MGP
16 magic syndrome 11.4
17 autoimmune inner ear disease 11.1
18 corticosteroid-sensitive aseptic abscesses 11.1
19 achondrogenesis, type ii 10.7 COMP MATN1
20 cartilage disease 10.6 COMP CRP
21 tendinitis 10.6 COMP CRP
22 tuberculous peritonitis 10.5 CRP IFNG
23 septic arthritis 10.5 CRP IFNG
24 diffuse cutaneous systemic sclerosis 10.4 COMP TREM1
25 pleurisy 10.4 CRP IFNG
26 myelodysplastic syndrome 10.3
27 suppurative cholangitis 10.3 CRP TREM1
28 vasculitis 10.2
29 arthritis 10.2
30 encephalitis 10.2
31 aortitis 10.2
32 scleritis 10.1
33 limbic encephalitis 10.1
34 transient arthritis 10.1 COMP IL6
35 b-cell growth factor 10.1 IFNG IL6
36 nutritional deficiency disease 10.1 CRP MGP
37 microscopic colitis 10.1 IFNG IL6
38 meconium aspiration syndrome 10.1 IFNG IL6
39 laryngotracheitis 10.1
40 dementia 10.1
41 hand, foot and mouth disease 10.1 IFNG IL6
42 intermediate uveitis 10.0 IFNG IL6
43 eales disease 10.0 IFNG IL6
44 hemorrhagic fever 10.0 IFNG IL6
45 cold agglutinin disease 10.0 CRP IL6
46 cryopyrin-associated periodic syndrome 10.0 CRP IL6
47 hematopoietic stem cell transplantation 10.0 IFNG IL6
48 cardiogenic shock 10.0 CRP IL6
49 neutrophilia, hereditary 10.0 CRP IL6
50 uremic pruritus 10.0 CRP IL6

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



Diseases related to Relapsing Polychondritis

Symptoms & Phenotypes for Relapsing Polychondritis

Human phenotypes related to Relapsing Polychondritis:

59 32 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 renal insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0000083
2 proteinuria 59 32 occasional (7.5%) Occasional (29-5%) HP:0000093
3 sensorineural hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000407
4 keratitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000491
5 conjunctivitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000509
6 cataract 59 32 hallmark (90%) Very frequent (99-80%) HP:0000518
7 uveitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000554
8 hematuria 59 32 occasional (7.5%) Occasional (29-5%) HP:0000790
9 purpura 59 32 occasional (7.5%) Occasional (29-5%) HP:0000979
10 arthritis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001369
11 limitation of joint mobility 59 32 frequent (33%) Frequent (79-30%) HP:0001376
12 anteriorly placed anus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001545
13 alopecia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001596
14 laryngomalacia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001601
15 pericarditis 59 32 frequent (33%) Frequent (79-30%) HP:0001701
16 dyspnea 59 32 frequent (33%) Frequent (79-30%) HP:0002094
17 vertigo 59 32 frequent (33%) Frequent (79-30%) HP:0002321
18 abnormal pattern of respiration 59 32 occasional (7.5%) Occasional (29-5%) HP:0002793
19 arthralgia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002829
20 thrombophlebitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004418
21 biparietal narrowing 59 32 occasional (7.5%) Occasional (29-5%) HP:0004422
22 large vessel vasculitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0005310
23 cranial nerve paralysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0006824
24 erythema 59 32 occasional (7.5%) Occasional (29-5%) HP:0010783
25 recurrent aphthous stomatitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0011107
26 hepatitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0012115
27 macule 59 32 occasional (7.5%) Occasional (29-5%) HP:0012733
28 cough 59 32 frequent (33%) Frequent (79-30%) HP:0012735
29 myocarditis 59 32 occasional (7.5%) Occasional (29-5%) HP:0012819
30 scleritis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100532
31 episcleritis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100534
32 chondritis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100662
33 atelectasis 59 32 frequent (33%) Frequent (79-30%) HP:0100750
34 gangrene 59 32 occasional (7.5%) Occasional (29-5%) HP:0100758
35 glomerulopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0100820
36 chondritis of pinna 59 32 hallmark (90%) Very frequent (99-80%) HP:0200047
37 abnormality of the aortic valve 59 Frequent (79-30%)
38 aneurysm 59 Occasional (29-5%)
39 abnormality of the endocardium 59 Occasional (29-5%)
40 venous thrombosis 59 Occasional (29-5%)
41 inflammatory abnormality of the eye 59 Occasional (29-5%)
42 abnormal aortic valve morphology 32 frequent (33%) HP:0001646
43 dilatation 32 occasional (7.5%) HP:0002617
44 abnormal endocardium morphology 32 occasional (7.5%) HP:0004306

MGI Mouse Phenotypes related to Relapsing Polychondritis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 skeleton MP:0005390 9.1 MGP TREM1 COMP IFNG IL6 MATN1

Drugs & Therapeutics for Relapsing Polychondritis

Drugs for Relapsing Polychondritis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Abatacept Approved Phase 1 332348-12-6 10237
2 Immunosuppressive Agents Phase 1
3 Antirheumatic Agents Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Tocilizumab for Relapsing Polychondritis Withdrawn NCT01104480 Phase 2 Tocilizumab
2 Study on the Safety of Abatacept in Relapsing Polychondritis Completed NCT01272856 Phase 1 Abatacept
3 Single Patient Study to Treat Relapsing Polychondritis With Tocilizumab Completed NCT01041248 Not Applicable Tocilizumab
4 Physical Training in Patients With Relapsing Polychondritis Recruiting NCT03092141 Not Applicable

Search NIH Clinical Center for Relapsing Polychondritis

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: polychondritis, relapsing

Genetic Tests for Relapsing Polychondritis

Anatomical Context for Relapsing Polychondritis

MalaCards organs/tissues related to Relapsing Polychondritis:

41
Heart, Bone, Eye, Skin, Kidney, Neutrophil, Myeloid

Publications for Relapsing Polychondritis

Articles related to Relapsing Polychondritis:

(show top 50) (show all 655)
# Title Authors Year
1
Remission of relapsing polychondritis after successful treatment of myelodysplastic syndrome with azacitidine: a case and review of the literature. ( 29715182 )
2018
2
Incidental Case of Relapsing Polychondritis Detected by 18F-FDG PET/CT. ( 29189373 )
2018
3
Persistent unilateral ulcer of the ear as the first manifestation of relapsing polychondritis. ( 29770469 )
2018
4
Inflammatory Pseudotumor-Induced Proptosis in a Patient With Relapsing Polychondritis. ( 29389690 )
2018
5
Relapsing polychondritis: a diagnosis not to be missed. ( 29718381 )
2018
6
Relapsing polychondritis as a presenting feature of acute myeloid leukaemia. ( 29048114 )
2018
7
Idiopathic Sclerosing Orbital Inflammation in a Relapsing Polychondritis Patient With Impaired Vision. ( 29384827 )
2018
8
Relapsing Polychondritis. ( 29719184 )
2018
9
Pleocytosis in a patient with relapsing polychondritis accompanied by meningoencephalitis: a case report. ( 29699514 )
2018
10
Tofacitinib in steroid-dependent relapsing polychondritis. ( 29724732 )
2018
11
Refractory relapsing polychondritis: challenges and solutions. ( 29391837 )
2018
12
Efficacy and safety of biologics in relapsing polychondritis: a French national multicentre study. ( 29535124 )
2018
13
Hypocomplementemic urticarial vasculitis occurring in a patient with relapsing polychondritis. ( 29779215 )
2018
14
Red-eared zebra diagnosis: Case of relapsing polychondritis. ( 29760256 )
2018
15
Relapsing Polychondritis ( 28613778 )
2017
16
Efficacy of tocilizumab highlighted by FDG-PET/CT in a patient with relapsing polychondritis-associated aortitis. ( 28965131 )
2017
17
18F-FDG PET/CT is an ideal imaging modality for the early diagnosis of relapsing polychondritis: A case report. ( 28746194 )
2017
18
Relapsing polychondritis: prevalence of cardiovascular diseases and its risk factors, and general disease features according to gender. ( 28743361 )
2017
19
Organ Involvement Pattern Suggests Subgroups within Relapsing Polychondritis. ( 28941194 )
2017
20
Use of veno-arterial extracorporeal membrane oxygenation in a case of tracheal injury repair in a patient with severe relapsing polychondritis. ( 29268558 )
2017
21
Relapsing Polychondritis with Myelodysplastic Syndrome: A Case Report. ( 28215949 )
2017
22
Relapsing Polychondritis is a Lung Disease: My Story. ( 29283700 )
2017
23
Diagnosis of relapsing polychondritis in a patient with chronic cough and without nasal or auricular chondritis. ( 28720307 )
2017
24
Relapsing polychondritis associated with psoriasis vulgaris successfully treated with adalimumab: A case report with published work review. ( 28266051 )
2017
25
Letter to the Editor: Central Nervous System Involvement in Relapsing Polychondritis, a Rare and Difficult Diagnosis: a Case Report. ( 28480667 )
2017
26
Response assessment in relapsing polychondritis with (18)F-FDG PET/CT. ( 28131697 )
2017
27
Relapsing Polychondritis Presented with Encephalitis Followed by Brain Atrophy. ( 28243168 )
2017
28
Relapsing polychondritis: a clinical review for rheumatologists. ( 29126262 )
2017
29
Successful treatment with tocilizumab for refractory scleritis associated with relapsing polychondritis. ( 28120637 )
2017
30
Relapsing Polychondritis With Increased Bone Marrow Signal on Magnetic Resonance Imaging in a 13-Year-Old Girl. ( 28953580 )
2017
31
Intralesional corticosteroid therapy for relapsing polychondritis. ( 28411788 )
2017
32
An unusual cause of fever of unknown origin with enlarged lymph nodes-relapsing polychondritis: A case report. ( 29145318 )
2017
33
Sudden Respiratory Failure due to Tracheobronchomalacia by Relapsing Polychondritis, Successfully Rescued by Multiple Metallic Stenting and Tracheostomy. ( 29021454 )
2017
34
The Role of Computed Tomography in the Diagnosis of Relapsing Polychondritis. ( 28558922 )
2017
35
Relapsing polychondritis: prevalence of cardiovascular diseases and its risk factors, and general disease features according to gender. ( 28262498 )
2017
36
Relapsing polychondritis with meningoencephalitis. ( 28207003 )
2017
37
Aortic involvement in relapsing polychondritis. ( 28528280 )
2017
38
Sustained response to tocilizumab in a patient with relapsing polychondritis complicated by aortitis. ( 28229816 )
2017
39
Meningeal plasma cell granuloma in the early stage of relapsing polychondritis. ( 28552866 )
2017
40
Calcified cauliflower ear in relapsing polychondritis. ( 28432170 )
2017
41
Relapsing polychondritis in a liver transplant recipient: A case report. ( 29069021 )
2017
42
News on Relapsing Polychondritis: the patients' experience. ( 29245187 )
2017
43
Three-dimensional imaging forced oscillation technique to assess position-dependent airway obstruction in relapsing polychondritis: A case report. ( 28012498 )
2017
44
Severe Aortic Valve Regurgitation in Relapsing Polychondritis. ( 29200026 )
2017
45
Heart Transplantation as Last Resort Treatment for Relapsing Polychondritis With Severe Cardiac Involvement. ( 29187087 )
2017
46
A case of relapsing polychondritis mimicking lung cancer. ( 29135403 )
2017
47
PET/CT Imaging in Fever of Unknown Origin: A Case of Relapsing Polychondritis. ( 28668816 )
2017
48
ANCA positive relapsing polychondritis, Graves disease, and suspected moyamoya disease: A case report. ( 29390537 )
2017
49
Successful Treatment of Central Nervous System Vasculitis Associated with Relapsing Polychondritis With Cyclophosphamide. ( 28502337 )
2017
50
Relapsing Polychondritis With Airway Involvement: A Clinical Challenge. ( 28259367 )
2017

Variations for Relapsing Polychondritis

Expression for Relapsing Polychondritis

Search GEO for disease gene expression data for Relapsing Polychondritis.

Pathways for Relapsing Polychondritis

GO Terms for Relapsing Polychondritis

Cellular components related to Relapsing Polychondritis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.35 COMP CRP ENO1 IFNG IL6
2 extracellular region GO:0005576 9.17 COMP CRP IFNG IL6 MATN1 MGP

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

# Name GO ID Score Top Affiliating Genes
1 acute-phase response GO:0006953 9.26 CRP IL6
2 regulation of bone mineralization GO:0030500 9.16 MATN1 MGP
3 negative regulation of lipid storage GO:0010888 8.96 CRP IL6
4 humoral immune response GO:0006959 8.8 IFNG IL6 TREM1

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

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.26 COMP CRP MATN1 MGP
2 extracellular matrix structural constituent GO:0005201 8.8 COMP MATN1 MGP

Sources for Relapsing Polychondritis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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