ORPHA:820
Sneddon syndrome
Synonyms: Ehrmann-Sneddon syndrome · Livedo racemosa-cerebrovascular accident syndrome · Livedo reticularis-cerebrovascular accident syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Adult
- Status
- active
Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Sneddon syndrome | Ehrmann-Sneddon syndrome · Livedo racemosa-cerebrovascular accident syndrome · Livedo reticularis-cerebrovascular accident syndrome |
| fr | Syndrome de Sneddon | Syndrome d'Ehrmann-Sneddon · Syndrome de livedo racemosa-accidents vasculaires cérébraux · Syndrome de livedo reticularis-accidents vasculaires cérébraux · Syndrome de livédo ramifié-accidents vasculaires cérébraux · Syndrome de livédo réticulaire-accidents vasculaires cérébraux |
| de | Sneddon-Syndrom | Ehrmann-Sneddon-Syndrom · Livedo racemosa generalisata mit zerebrovaskulären Ereignissen · Livedo reticularis - zerebrovaskuläre Störungen |
| es | Síndrome de Sneddon | Síndrome de Ehrmann-Sneddon · Síndrome de livedo racemosa-accidente cerebrovascular · Síndrome de livedo reticularis-accidente cerebrovascular |
| it | Sindrome di Sneddon | Livedo racemosa e accidenti cerebrovascolari · Livedo reticularis e accidenti cerebrovascolari · Sindrome di Ehrmann-Sneddon |
| nl | Syndroom van Sneddon | Livedo racemosa - cerebrovasculair accident-syndroom · Livedo reticularis - cerebrovasculair accident-syndroom · Syndroom van Ehrmann-Sneddon |
| pt | Síndrome Sneddon | Síndrome Ehrmann-Sneddon · Síndrome de livedo racemosa-acidente vascular cerebral · Síndrome de livedo reticular-acidente vascular cerebral |
| pl | Zespół Sneddona | Livedo racemosa and cerebrovascular accidents · Siność siatkowata i epizody mózgowo-naczyniowe · Zespół Ehrmanna i Sneddona |
| cs | Sneddonův syndrom | Livedo racemosa a cerebrovaskulární poruchy · Livedo reticularis a cerebrovaskulární poruchy · Ehrmannův-Sneddonův syndrom · Ehrmann-Sneddonův syndrom |
| uk | Синдром Снеддона | Синдром Ермана-Снеддона · Синдром Ліведо-Расемоза - порушення мозкового кровообігу · Синдром ретикулярної амілоїдозу - порушення мозкового кровообігу |
| zh | Sneddon综合征 | 网状青斑-脑血管意外综合征 |
| tr | Sneddon sendromu | Ehrmann-Sneddon sendromu · Livedo racemosa-serebrovasküler kaza sendromu · Livedo retikülaris-serebrovasküler kaza sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 182410 | E | validated | |
| ICD-10 | I77.8 | NTBT | attributed | validated |
| ICD-11 | 4A44.6 | E | specific | validated |
| MONDO | 0008436 | E | validated | |
| MeSH | D018860 | E | validated | |
| UMLS | C0282492 | E | validated | |
| GARD | 7664 | E | validated | |
| MedDRA | 10053841 | 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 (5):
- ORPHA:496924Non-inflammatory vasculopathy
rare circulatory system diseases - ORPHA:90077Other acquired skin disease
rare skin diseases - ORPHA:71281Rare central nervous system and retinal vascular disease
rare neurological diseases - ORPHA:233655Rare genetic vascular disease
rare genetic diseases - ORPHA:182228Systemic autoimmune disease
rare systemic and rheumatological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ADA2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:1839 | ENSG00000093072 | 607575 | 22q11.1 | adenosine deaminase 2 | 25075847[PMID]_25551694[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.4 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| 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.
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HPO phenotypes
54 annotations · validated 2024-02-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0033260 | Livedo racemosa | |
| Very frequent (99-80%) | ||
| HP:0100545 | Arterial stenosis | |
| HP:0000708 | Atypical behavior | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0000965 | Cutis marmorata | |
| HP:0002315 | Headache | |
| HP:0002354 | Memory impairment | |
| HP:0002076 | Migraine | |
| HP:0007141 | Sensorimotor neuropathy | |
| HP:0001727 | Thromboembolic stroke | |
| HP:0011276 | Vascular skin abnormality | |
| HP:0002321 | Vertigo | |
| Frequent (79-30%) | ||
| HP:0100576 | Amaurosis fugax | |
| HP:0001659 | Aortic regurgitation | |
| HP:0025722 | Cerebral infarct | |
| HP:0100543 | Cognitive impairment | |
| HP:0012213 | Decreased glomerular filtration rate | |
| HP:0000726 | Dementia | |
| HP:0002376 | Developmental regression | |
| HP:0031987 | Diminished ability to concentrate | |
| HP:0007359 | Focal-onset seizure | |
| HP:0001269 | Hemiparesis | |
| HP:0000822 | Hypertension | |
| HP:0010794 | Impaired visuospatial constructive cognition | |
| HP:0011714 | Libman-Sacks lesions | |
| HP:0001268 | Mental deterioration | |
| HP:0001653 | Mitral regurgitation | |
| HP:0001270 | Motor delay | |
| HP:0001324 | Muscle weakness | |
| HP:0002326 | Transient ischemic attack | |
| HP:0001123 | Visual field defect | |
| Occasional (29-5%) | ||
| HP:0003613 | Antiphospholipid antibody positivity | |
| HP:0002381 | Aphasia | |
| HP:0001647 | Bicuspid aortic valve | |
| HP:0025342 | Central retinal artery occlusion | |
| HP:0020166 | Central retinal vein occlusion | |
| HP:0100704 | Cerebral visual impairment | |
| HP:0009710 | Chilblains | |
| HP:0002072 | Chorea | |
| HP:0033126 | Cutaneous necrosis | |
| HP:0000716 | Depression | |
| HP:0030773 | Internuclear ophthalmoplegia | |
| HP:0002170 | Intracranial hemorrhage | |
| HP:0000112 | Nephropathy | |
| HP:0012246 | Oculomotor nerve palsy | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0000093 | Proteinuria | |
| HP:0030880 | Raynaud phenomenon | |
| HP:0001250 | Seizure | |
| HP:6000139 | Splinter hemorrhages | |
| HP:5200330 | Suicide behaviors | |
| HP:0001337 | Tremor | |
| Very rare (<4-1%) | ||
| HP:0030746 | Intraventricular hemorrhage | |
| HP:0002138 | Subarachnoid hemorrhage | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 25551694[PMID]_34740467[PMID]_31160219[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/820
- This record as JSON: /data/d/820.json