Susac syndrome
Synonyms: Retinocochleocerebral vasculopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- All ages
- Status
- active
A rare systemic or rheumatologic disease characterized by the triad of central nervous system (CNS) dysfunction, branch retinal artery occlusions (BRAOs) and sensorineural hearing loss (SNHL) due to autoimmune-mediated occlusions of microvessels in the brain, retina, and inner ear.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Susac syndrome | Retinocochleocerebral vasculopathy |
| fr | Syndrome de Susac | Maladie de Susac · Microangiopathie cochléo-encéphalo-rétinienne · Vasculopathie rétino-cochléo-cérébrale |
| de | Susac-Syndrom | Retino-cochleo-zerebrale Vaskulopathie |
| es | Síndrome de Susac | Vasculopatía retino-cocleo-cerebral |
| it | Sindrome di Susac | Vasculopatia retino-cocleo-cerebrale |
| nl | Syndroom van Susac | Retinocochleocerebrale vasculopathie |
| pt | Síndrome Susac | Vasculopatia retino-cócleo-cerebral |
| pl | Zespół Susaca | Małe zawały w ślimaku, siatkówce i tkance mózgowej · RED-M · Retinopatia, encefalopatia, głuchota powiązana z mikroangiopatią · Waskulopatia siatkówkowo-ślimakowo-mózgowa · Zespół SICRET |
| cs | Susacův syndrom | RED-M · Retinokochleocerebrální vaskulopatie · Retinopatie, encefalopatie a hluchota asociovaná s mikroangiopatií · SICRET syndrom · Mikroinfarkty kochleární, retinální a encefalické tkáně |
| uk | Синдром Сусака | Ретинокохлеоцеребральна васкулопатія |
| zh | Susac综合征 | 视网膜病-脑病-听力丧失相关性微血管病 |
| tr | Susac sendromu | RED-M · SICRET sendromu · Retinokokleoserebral vaskülopati · Küçük koklear, retina ve ensefalik doku enfarktüsleri · Mikroanjiyopatiye bağlı retinopati-ensefalopati-sağırlık · Retinopati-ensefalopati-mikroanjiyopatiye bağlı işitme kaybı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | I67.7 | NTBT | attributed | validated |
| ICD-11 | 8A45.2Y | NTBT | index | validated |
| MONDO | 0019390 | E | validated | |
| MeSH | D055955 | E | validated | |
| UMLS | C2717757 | E | validated | |
| GARD | 7713 | E | validated | |
| MedDRA | 10071573 | 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:496924Non-inflammatory vasculopathy
rare circulatory system diseases - ORPHA:71281Rare central nervous system and retinal vascular disease
rare neurological diseases - ORPHA:716459Rare disorder with progressive retinal vasculopathy as a major feature
rare ophthalmic disorders - ORPHA:182228Systemic autoimmune disease
rare systemic and rheumatological 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 | 304 cases | Worldwide | Case(s) | Validated | 23628737[PMID] | |
| 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
23 annotations · validated 2016-07-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002315 | Headache | |
| Frequent (79-30%) | ||
| HP:0001273 | Abnormal corpus callosum morphology | |
| HP:0100543 | Cognitive impairment | |
| HP:0001289 | Confusion | |
| HP:0001290 | Generalized hypotonia | |
| HP:0000407 | Sensorineural hearing impairment | Diagnostic criterion |
| HP:0000572 | Visual loss | Diagnostic criterion |
| Occasional (29-5%) | ||
| HP:0100851 | Abnormal emotion/affect behavior | |
| HP:0000496 | Abnormality of eye movement | |
| HP:0000741 | Apathy | |
| HP:0000708 | Atypical behavior | |
| HP:0000651 | Diplopia | |
| HP:0001260 | Dysarthria | |
| HP:0002066 | Gait ataxia | |
| HP:0001254 | Lethargy | |
| HP:0001324 | Muscle weakness | |
| HP:0002017 | Nausea and vomiting | |
| HP:0000751 | Personality changes | |
| HP:0000709 | Psychosis | |
| HP:0003474 | Somatic sensory dysfunction | |
| HP:0000360 | Tinnitus | |
| HP:0002493 | Upper motor neuron dysfunction | |
| HP:0002321 | Vertigo | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 26219936[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/838
- This record as JSON: /data/d/838.json