Primary angiitis of the central nervous system
Synonyms: Isolated angiitis of the central nervous system · PACNS · PCNSV · Primary central nervous system vasculitis · Primary vasculitis of the central nervous system
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
A rare, medium or small vessel vasculitis characterized by focal and/or diffuse neurologic symptoms due to a documented arteritic process in the central nervous system, in the absence of other identified underlying cause (infectious, systemic, other neurologic diseases, etc.). It presents with non-specific symptoms of headache, stroke or transient ischemic attacks with cognitive impairment, hemiplegia, weakness, and rarely, with cranial nerve involvement, seizures and ataxia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Primary angiitis of the central nervous system | Isolated angiitis of the central nervous system · PACNS · PCNSV · Primary central nervous system vasculitis · Primary vasculitis of the central nervous system |
| fr | Vascularite primitive du système nerveux central | Angéite isolée du système nerveux central · PACNS · PCNSV · Angéite primaire du système nerveux central |
| de | Primäre Angiitis des Zentralnervensystems | Isolierte Angiitis des zentralen Nervensystems · PACNS · PCNSV · Primäre Vaskulitis des Zentralnervensystems |
| es | Vasculitis primaria del sistema nervioso central | Angeítis aislada del sistema nervioso central · Angeítis primaria del sistema nervioso central · PACNS · PCNSV · Vasculitis aislada del sistema nervioso central |
| it | Angioite primitiva del sistema nervoso centrale | Angioite isolata del sistema nervoso centrale · Angioite primitiva del sistema nervoso centrale · PACNS · PCNSV |
| nl | Primaire angiitis van centraal zenuwstelsel | Geïsoleerde angiitis van centraal zenuwstelsel · PACNS · PCNSV · Primaire vasculitis van centraal zenuwstelsel |
| pt | Angeíte primária do sistema nervoso central | |
| pl | Pierwotne zapalenie naczyń ośrodkowego układu nerwowego | Izolowane zapalenie naczyń centralnego układu nerwowego · PACNS · PCNSV |
| cs | Primární vaskulitida centrálního nervového systému | Izolovaná angiitida centrálního nervového systému · PACNS · PCNSV · Primární angiitida centrálního nervového systému |
| uk | Первинний ангііт центральної нервової системи | Ізольований ангііт центральної нервової системи · PACNS · PCNSV · Первинний васкуліт центральної нервової системи · Первинний васкуліт центральної нервової системи |
| zh | 原发性中枢神经系统血管炎 | 孤立性中枢神经系统血管炎 |
| tr | Primer merkezi sinir sistemi anjiiti | PACNS · PCNSV · Primer merkezi sinir sistemi vasküliti · Merkezi sinir sisteminin izole anjiti · Merkezi sinir sisteminin primer vasküliti |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | I67.7 | NTBT | attributed | validated |
| ICD-11 | 4A44.7 | NTBT | index | validated |
| MONDO | 0015374 | E | validated | |
| MeSH | C535276 | E | validated | |
| UMLS | C2930862 | E | validated | |
| GARD | 8703 | 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 (4):
- ORPHA:183503Genetic central nervous system and retinal vascular disease
rare genetic diseases - ORPHA:156143Predominantly medium-vessel vasculitis
rare systemic and rheumatological diseases; rare circulatory system diseases - ORPHA:156146Predominantly small-vessel vasculitis
rare systemic and rheumatological diseases; rare circulatory system diseases - ORPHA:71281Rare central nervous system and retinal vascular disease
rare neurological 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 |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.24 / 100 000 | United States | Value and class | Validated | 21601163[PMID]_21180634[PMID]_22575778[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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
30 annotations · validated 2018-10-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005318 | Cerebral vasculitis | |
| Frequent (79-30%) | ||
| HP:0025456 | Abnormal CSF protein level | |
| HP:0002381 | Aphasia | |
| HP:0012229 | CSF pleocytosis | |
| HP:0100543 | Cognitive impairment | |
| HP:0002315 | Headache | |
| HP:0001269 | Hemiparesis | |
| HP:0007052 | Multifocal cerebral white matter abnormalities | |
| HP:0002017 | Nausea and vomiting | |
| HP:0003470 | Paralysis | |
| HP:0007236 | Recurrent subcortical infarcts | |
| HP:0001297 | Stroke | |
| HP:0002326 | Transient ischemic attack | |
| Occasional (29-5%) | ||
| HP:0030588 | Abnormal visual field test | |
| HP:0001251 | Ataxia | |
| HP:0000622 | Blurred vision | |
| HP:0000651 | Diplopia | |
| HP:0001260 | Dysarthria | |
| HP:0001945 | Fever | |
| HP:0002170 | Intracranial hemorrhage | |
| HP:0002385 | Paraparesis | |
| HP:0007663 | Reduced visual acuity | |
| HP:0001250 | Seizure | |
| HP:0002273 | Tetraparesis | |
| HP:0010534 | Transient global amnesia | |
| Very rare (<4-1%) | ||
| HP:0100576 | Amaurosis fugax | |
| HP:0025142 | Constitutional symptom | |
| HP:0001300 | Parkinsonism | |
| HP:0000538 | Pseudopapilledema | |
| HP:0002321 | Vertigo | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 26020379[PMID]_25708615[PMID]_22575778[PMID]_16575852[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/140989
- This record as JSON: /data/d/140989.json