ORPHA:228116
Hughes-Stovin syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
Hughes-Stovin syndrome (HSS) is a life-threatening disorder, believed to be a cardiovascular clinical variant manifestation of Behçet's disease (BD). It is characterized by the association of multiple pulmonary artery aneurysms (PAAs) and peripheral venous thrombosis.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hughes-Stovin syndrome | |
| fr | Syndrome de Hughes-Stovin | |
| de | Hughes-Stovin-Syndrom | |
| es | Síndrome de Hughes-Stovin | |
| it | Sindrome di Hughes-Stovin | |
| nl | Hughes-Stovinsyndroom | |
| pt | Síndrome de Hughes-Stovin | |
| pl | Zespół Hughesa i Stovina | |
| cs | Hughesův-Stovinův syndrom | Hughes-Stovinův syndrom |
| uk | Синдром Хьюза-Стовіна | |
| zh | Hughes-Stovin综合征 | |
| tr | Hughes-Stovin sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | I28.8 | NTBT | attributed | validated |
| ICD-11 | 4A44.Y | NTBT | index | validated |
| MONDO | 0016425 | E | validated | |
| UMLS | C4303478 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:156140Predominantly large-vessel vasculitis
rare systemic and rheumatological diseases; rare circulatory system diseases
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 cases | Worldwide | Case(s) | Validated | 21489283[PMID]_15696563[PMID]_ [EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | 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.
6
HPO phenotypes
18 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0006543 | Cardiorespiratory arrest | |
| HP:0100749 | Chest pain | |
| HP:0012735 | Cough | |
| HP:0002094 | Dyspnea | |
| HP:0012378 | Fatigue | |
| HP:0002105 | Hemoptysis | |
| HP:0010741 | Pedal edema | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0002204 | Pulmonary embolism | |
| HP:0002633 | Vasculitis | |
| HP:0004936 | Venous thrombosis | |
| Frequent (79-30%) | ||
| HP:0100576 | Amaurosis fugax | |
| HP:0001945 | Fever | |
| HP:0002315 | Headache | |
| HP:0002017 | Nausea and vomiting | |
| HP:0004937 | Pulmonary artery aneurysm | |
| Occasional (29-5%) | ||
| HP:0100545 | Arterial stenosis | |
| HP:0002516 | Increased intracranial pressure | |
Run the differential on the 11 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/228116
- This record as JSON: /data/d/228116.json