ORPHA:329217
Cerebral sinovenous thrombosis
Synonyms: CSVT
- Type
- Disease
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial
- Age of onset
- All ages
- Status
- active
A rare, potentially life-threatening, circulatory system disease characterized by variable signs and symptoms which may include headache, seizures, altered mental status, intracranial hypertension and cavernous sinus syndrome, among others.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cerebral sinovenous thrombosis | CSVT |
| fr | Thrombose veineuse cérébrale | CSVT · Thrombose des veines et sinus cérébraux · Thrombose sino-veineuse cérébrale |
| de | Zerebrale Sinus- und Venenthrombose | CSVT · Zerebrale Sinusvenenthrombose |
| es | Trombosis de los senos venosos cerebrales | = en |
| it | Trombosi dei seni e delle vene cerebrali | = en |
| nl | Cerebrale sinoveneuze trombose | = en |
| pt | Trombose cerebral sinovenosa | |
| pl | Zakrzepica zatok i żył mózgu | = en |
| cs | Cerebrální venózní trombóza | = en |
| uk | Церебральний синовіальний тромбоз | = en |
| zh | 脑静脉窦血栓形成 | = en |
| tr | Serebral sinovenöz tromboz | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G08 | NTBT | attributed | not yet validated |
| ICD-10 | I67.6 | NTBT | attributed | validated |
| ICD-11 | 8B22.1 | E | specific | validated |
| MONDO | 0017993 | E | validated | |
| UMLS | C0338573 | E | validated | |
| MedDRA | 10083037 | 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:71281Rare central nervous system and retinal vascular disease
rare neurological diseases
No children.
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Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PROZ | Candidate gene tested in | Not yet assessed | HGNC:9460 | ENSG00000126231 | 176895 | 13q34 | protein Z, vitamin K dependent plasma glycoprotein | 21350198[PMID]_18677630[PMID]_20416992[PMID] |
| F2 | Major susceptibility factor in | Assessed | HGNC:3535 | ENSG00000180210 | 176930 | 11p11.2 | coagulation factor II, thrombin | 23073861[PMID]_22645618[PMID]_21350198[PMID]_16175009[PMID]_23927452[PMID]_22716977[PMID] |
| F5 | Major susceptibility factor in | Assessed | HGNC:3542 | ENSG00000198734 | 612309 | 1q24.2 | coagulation factor V | 23073861[PMID]_22721898[PMID]_21350198[PMID]_10519989[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | — | Europe | Class only | Not yet validated | 15858188[PMID]_ORPHANET |
| 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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/329217
- This record as JSON: /data/d/329217.json