Intermittent hydrarthrosis
- Type
- Disease
- Group
- Disorder
- Age of onset
- Adult
- Status
- active
A rare rheumatologic disease characterized by recurrent self-remitting episodes of acute monoarticular arthritis, often with a fixed periodicity, typically affecting the knee or another large joint, which develops an effusion over 12 to 24 hours with only mild to moderate pain and minimal signs of inflammation. Attacks last three to five days and may parallel menses in females. Systemic symptoms are absent, and no joint damage occurs.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Intermittent hydrarthrosis | |
| fr | Hydarthrose intermittente | |
| de | Hydarthrose, intermittierende | |
| es | Hidrartrosis intermitente | |
| it | Idrartrosi intermittente | |
| nl | Intermitterende hydrartrose | |
| pt | Hidrartrose intermitente | |
| pl | Nawracające wysiękowe zapalenie stawu | |
| cs | Intermitentní hydrartróza | |
| uk | Інтермітуючий гідроартроз | |
| zh | 间歇性关节炎 | |
| tr | İntermittent hidrartroz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | M12.4 | E | specific | validated |
| ICD-11 | FA27.4 | E | specific | validated |
| MONDO | 0018015 | E | validated | |
| UMLS | C0149910 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:271870Rare genetic systemic or rheumatologic disease
rare genetic diseases - ORPHA:486955Rare pediatric rheumatologic disease
rare systemic or rheumatologic diseases of childhood - ORPHA:182231Rare rheumatologic disease
rare systemic and rheumatological diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MEFV | Candidate gene tested in | Not yet assessed | HGNC:6998 | ENSG00000103313 | 608107 | 16p13.3 | MEFV innate immunity regulator, pyrin | 16802374[PMID] |
| TNFRSF1A | Candidate gene tested in | Not yet assessed | HGNC:11916 | ENSG00000067182 | 191190 | 12p13.31 | TNF receptor superfamily member 1A | 22887853[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
5 annotations · validated 2021-05-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001386 | Joint swelling | |
| Frequent (79-30%) | ||
| HP:0002815 | Abnormality of the knee | |
| Occasional (29-5%) | ||
| HP:0002829 | Arthralgia | |
| HP:0045086 | Knee joint hypermobility | |
| Very rare (<4-1%) | ||
| HP:0000934 | Chondrocalcinosis | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 15454124[PMID]_16802374[PMID]_17889261[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/329967
- This record as JSON: /data/d/329967.json