MCID: RLP001
MIFTS: 55

Relapsing Polychondritis

Categories: Rare diseases, Nephrological diseases, Bone diseases

Aliases & Classifications for Relapsing Polychondritis

MalaCards integrated aliases for Relapsing Polychondritis:

Name: Relapsing Polychondritis 12 49 55 36 14
Polychondritis, Relapsing 41 69
Chronic Atrophic Polychondritis 49
Chondromalacia, Systemic 12
Recurrent Polychondritis 49
Polychondritis Relapsing 51

Characteristics:

Orphanet epidemiological data:

55
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 : 49 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 meningitis and neutrophilia, hereditary, and has symptoms including renal insufficiency, proteinuria and sensorineural hearing impairment. An important gene associated with Relapsing Polychondritis is COMP (Cartilage Oligomeric Matrix Protein), and among its related pathways/superpathways are Selenium Micronutrient Network and ECM proteoglycans. The drugs Abatacept and Antirheumatic Agents have been mentioned in the context of this disorder. Affiliated tissues include heart, bone and eye, and related phenotype is skeleton.

Wikipedia : 72 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 281)
# Related Disease Score Top Affiliating Genes
1 meningitis 29.9 CRP IFNG IL6
2 neutrophilia, hereditary 29.5 CRP IL6
3 spondyloarthropathy 29.5 IFNG IL6
4 polyarteritis nodosa 29.5 CRP IL6
5 rheumatoid arthritis 29.4 COMP CRP IFNG IL6
6 brucellosis 29.3 CRP IFNG IL6
7 crohn's disease 29.3 CRP IFNG IL6
8 conjunctivitis 29.2 IFNG IL6
9 autoimmune disease 29.1 ENO1 IFNG IL6
10 synovitis 29.1 COMP CRP IL6
11 central nervous system vasculitis 29.1 CRP IFNG IL6
12 temporal arteritis 29.1 CRP IFNG IL6
13 ulcerative colitis 29.1 CRP IFNG IL6
14 bacterial meningitis 29.0 CRP IL6
15 thrombocytosis 28.9 CRP IL6
16 pneumonia 28.9 CRP IL6 TREM1
17 magic syndrome 11.4
18 autoimmune inner ear disease 11.1
19 corticosteroid-sensitive aseptic abscesses 11.1
20 achondrogenesis, type ii 10.4 COMP MATN1
21 cartilage disease 10.3 COMP CRP
22 tendinitis 10.3 COMP CRP
23 tuberculous peritonitis 10.3 CRP IFNG
24 myelodysplastic syndrome 10.3
25 diffuse cutaneous systemic sclerosis 10.3 COMP TREM1
26 pleurisy 10.2 CRP IFNG
27 arthritis 10.2
28 vasculitis 10.2
29 encephalitis 10.2
30 suppurative cholangitis 10.2 CRP TREM1
31 aortitis 10.2
32 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.1
33 scleritis 10.1
34 limbic encephalitis 10.1
35 transient arthritis 10.1 COMP IL6
36 laryngotracheitis 10.1
37 dementia 10.1
38 b-cell growth factor 10.0 IFNG IL6
39 immune suppression 10.0 IFNG IL6
40 ascaris lumbricoides infection 10.0 IFNG IL6
41 microscopic colitis 10.0 IFNG IL6
42 meconium aspiration syndrome 10.0 IFNG IL6
43 hand, foot and mouth disease 10.0 IFNG IL6
44 cold agglutinin disease 10.0 CRP IL6
45 intermediate uveitis 10.0 IFNG IL6
46 diabetic foot ulcers 10.0 CRP IL6
47 eales disease 10.0 IFNG IL6
48 cryopyrin-associated periodic syndrome 10.0 CRP IL6
49 hemorrhagic fever 10.0 IFNG IL6
50 respiratory failure 10.0

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:

55 31 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 renal insufficiency 55 31 occasional (7.5%) Occasional (29-5%) HP:0000083
2 proteinuria 55 31 occasional (7.5%) Occasional (29-5%) HP:0000093
3 sensorineural hearing impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000407
4 keratitis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000491
5 conjunctivitis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000509
6 cataract 55 31 hallmark (90%) Very frequent (99-80%) HP:0000518
7 uveitis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000554
8 hematuria 55 31 occasional (7.5%) Occasional (29-5%) HP:0000790
9 purpura 55 31 occasional (7.5%) Occasional (29-5%) HP:0000979
10 arthritis 55 31 hallmark (90%) Very frequent (99-80%) HP:0001369
11 limitation of joint mobility 55 31 frequent (33%) Frequent (79-30%) HP:0001376
12 anteriorly placed anus 55 31 occasional (7.5%) Occasional (29-5%) HP:0001545
13 alopecia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001596
14 laryngomalacia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001601
15 pericarditis 55 31 frequent (33%) Frequent (79-30%) HP:0001701
16 dyspnea 55 31 frequent (33%) Frequent (79-30%) HP:0002094
17 vertigo 55 31 frequent (33%) Frequent (79-30%) HP:0002321
18 abnormal pattern of respiration 55 31 occasional (7.5%) Occasional (29-5%) HP:0002793
19 arthralgia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002829
20 thrombophlebitis 55 31 occasional (7.5%) Occasional (29-5%) HP:0004418
21 biparietal narrowing 55 31 occasional (7.5%) Occasional (29-5%) HP:0004422
22 large vessel vasculitis 55 31 hallmark (90%) Very frequent (99-80%) HP:0005310
23 cranial nerve paralysis 55 31 occasional (7.5%) Occasional (29-5%) HP:0006824
24 erythema 55 31 occasional (7.5%) Occasional (29-5%) HP:0010783
25 recurrent aphthous stomatitis 55 31 occasional (7.5%) Occasional (29-5%) HP:0011107
26 hepatitis 55 31 occasional (7.5%) Occasional (29-5%) HP:0012115
27 macule 55 31 occasional (7.5%) Occasional (29-5%) HP:0012733
28 cough 55 31 frequent (33%) Frequent (79-30%) HP:0012735
29 myocarditis 55 31 occasional (7.5%) Occasional (29-5%) HP:0012819
30 scleritis 55 31 occasional (7.5%) Occasional (29-5%) HP:0100532
31 episcleritis 55 31 occasional (7.5%) Occasional (29-5%) HP:0100534
32 chondritis 55 31 hallmark (90%) Very frequent (99-80%) HP:0100662
33 atelectasis 55 31 frequent (33%) Frequent (79-30%) HP:0100750
34 gangrene 55 31 occasional (7.5%) Occasional (29-5%) HP:0100758
35 glomerulopathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0100820
36 chondritis of pinna 55 31 hallmark (90%) Very frequent (99-80%) HP:0200047
37 abnormality of the aortic valve 55 Frequent (79-30%)
38 aneurysm 55 Occasional (29-5%)
39 abnormality of the endocardium 55 Occasional (29-5%)
40 venous thrombosis 55 Occasional (29-5%)
41 inflammatory abnormality of the eye 55 Occasional (29-5%)
42 abnormal aortic valve morphology 31 frequent (33%) HP:0001646
43 dilatation 31 occasional (7.5%) HP:0002617
44 abnormal endocardium morphology 31 occasional (7.5%) HP:0004306

MGI Mouse Phenotypes related to Relapsing Polychondritis:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 skeleton MP:0005390 9.1 COMP IFNG IL6 MATN1 MGP TREM1

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 Antirheumatic Agents Phase 1
3 Immunosuppressive 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 Tocilizumab
4 Physical Training in Patients With Relapsing Polychondritis Recruiting NCT03092141

Search NIH Clinical Center for Relapsing Polychondritis

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Cochrane evidence based reviews: polychondritis, relapsing

Genetic Tests for Relapsing Polychondritis

Anatomical Context for Relapsing Polychondritis

MalaCards organs/tissues related to Relapsing Polychondritis:

38
Heart, Bone, Eye, Skin, Kidney, Neutrophil, Myeloid

Publications for Relapsing Polychondritis

Articles related to Relapsing Polychondritis:

(show top 50) (show all 642)
# Title Authors Year
1
Refractory relapsing polychondritis: challenges and solutions. ( 29391837 )
2018
2
Idiopathic Sclerosing Orbital Inflammation in a Relapsing Polychondritis Patient With Impaired Vision. ( 29384827 )
2018
3
Relapsing polychondritis as a presenting feature of acute myeloid leukaemia. ( 29048114 )
2018
4
Inflammatory Pseudotumor-Induced Proptosis in a Patient With Relapsing Polychondritis. ( 29389690 )
2018
5
Incidental Case of Relapsing Polychondritis Detected by 18F-FDG PET/CT. ( 29189373 )
2018
6
Letter to the Editor: Central Nervous System Involvement in Relapsing Polychondritis, a Rare and Difficult Diagnosis: a Case Report. ( 28480667 )
2017
7
Aseptic meningitis in relapsing polychondritis: a case report and literature review. ( 28361234 )
2017
8
A case of relapsing polychondritis mimicking lung cancer. ( 29135403 )
2017
9
Sudden Respiratory Failure due to Tracheobronchomalacia by Relapsing Polychondritis, Successfully Rescued by Multiple Metallic Stenting and Tracheostomy. ( 29021454 )
2017
10
Relapsing polychondritis in a liver transplant recipient: A case report. ( 29069021 )
2017
11
Use of veno-arterial extracorporeal membrane oxygenation in a case of tracheal injury repair in a patient with severe relapsing polychondritis. ( 29268558 )
2017
12
Visual loss in relapsing polychondritis: rapid progression of orbital inflammation. ( 28548714 )
2017
13
Organ Involvement Pattern Suggests Subgroups within Relapsing Polychondritis. ( 28941194 )
2017
14
Relapsing Polychondritis Presented with Encephalitis Followed by Brain Atrophy. ( 28243168 )
2017
15
Relapsing Polychondritis With Airway Involvement: A Clinical Challenge. ( 28259367 )
2017
16
Calcified cauliflower ear in relapsing polychondritis. ( 28432170 )
2017
17
Relapsing polychondritis associated with psoriasis vulgaris successfully treated with adalimumab: A case report with published work review. ( 28266051 )
2017
18
Relapsing polychondritis: prevalence of cardiovascular diseases and its risk factors, and general disease features according to gender. ( 28743361 )
2017
19
Relapsing Polychondritis With Increased Bone Marrow Signal on Magnetic Resonance Imaging in a 13-Year-Old Girl. ( 28953580 )
2017
20
Silent tracheobronchial chondritis in a patient with a delayed diagnosis of relapsing polychondritis. ( 28739564 )
2017
21
Meningeal plasma cell granuloma in the early stage of relapsing polychondritis. ( 28552866 )
2017
22
Heart Transplantation as Last Resort Treatment for Relapsing Polychondritis With Severe Cardiac Involvement. ( 29187087 )
2017
23
Image Gallery: Relapsing polychondritis associated with monoclonal gammopathy. ( 28098388 )
2017
24
PET/CT Imaging in Fever of Unknown Origin: A Case of Relapsing Polychondritis. ( 28668816 )
2017
25
Rapid corneal thinning and perforated ulcerative keratitis in a patient with relapsing polychondritis. ( 28331873 )
2017
26
Relapsing polychondritis: a chameleon among orphan diseases. ( 28364136 )
2017
27
Relapsing polychondritis: a clinical review for rheumatologists. ( 29126262 )
2017
28
ANCA positive relapsing polychondritis, Graves disease, and suspected moyamoya disease: A case report. ( 29390537 )
2017
29
Intralesional corticosteroid therapy for relapsing polychondritis. ( 28411788 )
2017
30
Relapsing polychondritis and lymphocytic meningitis with varied neurological symptoms. ( 29173700 )
2017
31
Relapsing Polychondritis is a Lung Disease: My Story. ( 29283700 )
2017
32
News on Relapsing Polychondritis: the patients' experience. ( 29245187 )
2017
33
Successful Treatment of Central Nervous System Vasculitis Associated with Relapsing Polychondritis With Cyclophosphamide. ( 28502337 )
2017
34
Relapsing Polychondritis with Myelodysplastic Syndrome: A Case Report. ( 28215949 )
2017
35
An unusual cause of fever of unknown origin with enlarged lymph nodes-relapsing polychondritis: A case report. ( 29145318 )
2017
36
Patient-Perception of Disease-Related Symptoms and Complications in Relapsing Polychondritis. ( 29245173 )
2017
37
Sustained response to tocilizumab in a patient with relapsing polychondritis complicated by aortitis. ( 28229816 )
2017
38
18F-FDG PET/CT is an ideal imaging modality for the early diagnosis of relapsing polychondritis: A case report. ( 28746194 )
2017
39
The Role of Computed Tomography in the Diagnosis of Relapsing Polychondritis. ( 28558922 )
2017
40
Relapsing polychondritis with meningoencephalitis. ( 28207003 )
2017
41
Aortic involvement in relapsing polychondritis. ( 28528280 )
2017
42
A Case of Relapsing Polychondritis Mimicking Hemophagocytic Lymphohistiocytosis After Propionibacterium acnes Infection. ( 29280824 )
2017
43
Clinical Value of FDG-PET/CT for the Evaluation of Rheumatic Diseases: Rheumatoid Arthritis, Polymyalgia Rheumatica, and Relapsing Polychondritis. ( 28583280 )
2017
44
Response assessment in relapsing polychondritis with (18)F-FDG PET/CT. ( 28131697 )
2017
45
Efficacy of tocilizumab highlighted by FDG-PET/CT in a patient with relapsing polychondritis-associated aortitis. ( 28965131 )
2017
46
Severe Aortic Valve Regurgitation in Relapsing Polychondritis. ( 29200026 )
2017
47
Successful treatment with tocilizumab for refractory scleritis associated with relapsing polychondritis. ( 28120637 )
2017
48
Diagnosis of relapsing polychondritis in a patient with chronic cough and without nasal or auricular chondritis. ( 28720307 )
2017
49
Relapsing Polychondritis ( 28613778 )
2017
50
Relapsing polychondritis as an unusual cause of multiple cranial nerve palsies-A Case report. ( 28093782 )
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 proteinaceous extracellular matrix GO:0005578 9.33 COMP MATN1 MGP
3 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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