ORPHA:728
Relapsing polychondritis
Synonyms: Polychondropathia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- All ages
- Status
- active
A rare, clinically heterogeneous, multisystemic inflammatory disease characterized by inflammation of the cartilage and proteoglycan rich structures leading to cartilage damage along with joint, ocular and cardiovascular involvement.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Relapsing polychondritis | Polychondropathia |
| fr | Polychondrite atrophiante | Polychondrite récidivante · Polychondropathie |
| de | Polychondritis, rezidivierende | |
| es | Policondritis recidivante | |
| it | Policondrite ricorrente | |
| nl | Recidiverende polychondritis | Polychondropathie |
| pt | Policondrite recorrente | |
| pl | Nawracające zapalenie chrząstek | = en |
| cs | Relabující polychondritida | = en |
| uk | Рецидивуючий поліхондрит | Поліхондропатія |
| zh | 复发性多软骨炎 | 多软骨炎 |
| tr | Tekrarlayan polikondrit | Polikondropati |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | M94.1 | E | specific | validated |
| ICD-11 | FB82.3 | E | specific | validated |
| MONDO | 0019125 | E | validated | |
| MeSH | D011081 | E | validated | |
| UMLS | C0032453 | E | validated | |
| GARD | 7417 | E | validated | |
| MedDRA | 10038304 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:182228Systemic autoimmune disease
rare systemic and rheumatological diseases - ORPHA:567560Systemic vasculitis associated with glomerulopathy
rare renal diseases; rare transplant-related disorders
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
5 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.35 / 100 000 | United States | Value and class | Validated | 21962557[PMID]_14673390[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.35 / 100 000 | Worldwide | Value and class | Validated | 21962557[PMID]_14673390[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
| Annual incidence | <1 / 1 000 000 | 0.071 / 100 000 | United Kingdom | Value and class | Validated | 26187053[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.52 / 100 000 | United Kingdom | Value and class | Validated | 26187053[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
53 annotations · validated 2024-02-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001369 | Arthritis | |
| HP:0000518 | Cataract | |
| HP:0100662 | Chondritis | |
| HP:0200047 | Chondritis of pinna | |
| HP:0005310 | Large vessel vasculitis | |
| Frequent (79-30%) | ||
| HP:0001646 | Abnormal aortic valve morphology | |
| HP:0001251 | Ataxia | |
| HP:0100750 | Atelectasis | |
| HP:0012735 | Cough | |
| HP:0002094 | Dyspnea | |
| HP:0001609 | Hoarse voice | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0002017 | Nausea and vomiting | |
| HP:0001701 | Pericarditis | |
| HP:0000360 | Tinnitus | |
| HP:0002786 | Tracheobronchomalacia | |
| HP:0002321 | Vertigo | |
| HP:0030828 | Wheezing | |
| Occasional (29-5%) | ||
| HP:0031481 | Abnormal mitral valve physiology | |
| HP:0002793 | Abnormal pattern of respiration | |
| HP:0004306 | Abnormality of the endocardium | |
| HP:0001596 | Alopecia | |
| HP:0001545 | Anteriorly placed anus | |
| HP:0003493 | Antinuclear antibody positivity | |
| HP:0002829 | Arthralgia | |
| HP:0004422 | Biparietal narrowing | |
| HP:0000509 | Conjunctivitis | |
| HP:0006824 | Cranial nerve paralysis | |
| HP:0002617 | Dilatation | |
| HP:0100534 | Episcleritis | |
| HP:0010783 | Erythema | |
| HP:0100758 | Gangrene | |
| HP:0100820 | Glomerulopathy | |
| HP:0000790 | Hematuria | |
| HP:0012115 | Hepatitis | |
| HP:0100533 | Inflammatory abnormality of the eye | |
| HP:0000491 | Keratitis | |
| HP:0001601 | Laryngomalacia | |
| HP:0001686 | Loss of voice | |
| HP:0012733 | Macule | |
| HP:0012819 | Myocarditis | |
| HP:0033380 | Nasal chondritis | |
| HP:0000520 | Proptosis | |
| HP:0000093 | Proteinuria | |
| HP:0000979 | Purpura | |
| HP:0011107 | Recurrent aphthous stomatitis | |
| HP:0000083 | Renal insufficiency | |
| HP:0002923 | Rheumatoid factor positive | |
| HP:0100532 | Scleritis | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0004418 | Thrombophlebitis | |
| HP:0000554 | Uveitis | |
| HP:0004936 | Venous thrombosis | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 28613778[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/728
- This record as JSON: /data/d/728.json