Arterial dissection-lentiginosis syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Childhood
- Status
- active
A rare association syndrome, reported in several members of two families to date, characterized by arterial dissection, occurring at an early age and presenting with a range of manifestations depending on the vascular territory involved (ex. headache, dysphasia, hemiparesis), in association with cystic medial necrosis and multiple lentigines (brown and black in color and mainly affecting the skin of the trunk and extremities).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Arterial dissection-lentiginosis syndrome | |
| fr | Syndrome de dissection artérielle-lentiginose | |
| de | Arteriendissektion mit Lentiginose | |
| es | Síndrome de Síndrome de disección arterial-lentiginosis | |
| it | Dissezione arteriosa con lentigginosi | |
| nl | Arteriële dissectie - lentiginose-syndroom | |
| pt | Síndrome de disseção arterial-lentiginose | |
| pl | Rozwarstwienie aorty - plamy soczewicowate | |
| cs | Syndrom zahrnující arteriální disekci a lentiginózu | |
| uk | Синдром розшарування артерій - лентигіноз | |
| zh | 动脉夹层-雀斑样痣病综合征 | |
| tr | Arter diseksiyonu-lentiginöz sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600459 | E | validated | |
| ICD-10 | I72.8 | NTBT | attributed | validated |
| ICD-11 | BD50.Z | NTBT | index | validated |
| MONDO | 0010889 | E | validated | |
| UMLS | C4304024 | 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 (1):
- ORPHA:496924Non-inflammatory vasculopathy
rare circulatory system diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 7838191[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_7838191[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.
HPO phenotypes
4 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005294 | Arterial dissection | |
| HP:0100026 | Arteriovenous malformation | |
| HP:0000995 | Melanocytic nevus | |
| Frequent (79-30%) | ||
| HP:0001269 | Hemiparesis | |
Run the differential on the 3 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1682
- This record as JSON: /data/d/1682.json