Portosinusoidal vascular disease
Synonyms: PSVD
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
A rare vascular liver disease characterized by the absence of cirrhosis with or without portal hypertension and histological lesions involving portal venules or sinusoids. Patients may present either with specific clinical signs of portal hypertention (including gastric esophageal or ectopic varices, portal hypertensive bleeding or porto-systemic collaterals at imaging) or a histological lesion specific to portosinusoidal vascular disease (including obliterative portal venopathy, nodular regenerative hyperplasmia or incomplete septal fibrosis or cirrhosis) or they may manifest clinical signs that are not specific to portal hypertention (such as ascites, platelet count <150.000/µl, increased spleen size ≥13 cm in the largest axis) together with a histological lesion including portal tract abnormalities, irregular distribution of the portal tracts and central veins, non-zonal sinusoidal dilation, mild perisinusoidal fibrosis. Possible associations with altered immunity, hematological diseases and prothrombotic conditions, infections, congenital or familial defects, or drug exposure are reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Portosinusoidal vascular disease | PSVD |
| fr | Maladie vasculaire portosinusoïdale | |
| de | Portosinusoidale Gefäßerkrankung | PSVD · Portosinusoidale vaskuläre Erkrankung |
| es | Enfermedad vascular portosinusoidal | EVPS |
| it | Malattia vascolare porto-sinusoidale | = en |
| nl | Porto-sinusoïdale vasculaire aandoening | = en |
| pt | Doença vascular portosinusoidal | = en |
| pl | Choroba naczyń wrotnych i zatokowych | = en |
| cs | Portosinusoidální cévní onemocnění | = en |
| uk | Портосинусоїдальна хвороба судин | = en |
| zh | Portosinusoidal vascular disease | = en |
| tr | Portosinusoidal vascular disease | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | K76.8 | NTBT | attributed | validated |
| ICD-11 | DB98.Y | NTBT | attributed | validated |
| MONDO | 0035357 | E | validated | |
| UMLS | C5680289 | 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:101938Rare vascular liver disease
rare hepatic diseases
Codes that Orphanet moved or referred to this one:
- ORPHA:494348Early-onset familial noncirrhotic portal hypertension moved to · inactive
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | 30957754[PMID]_36606618[PMID] |
| Annual incidence | Unknown | — | Worldwide | Class only | Validated | 30957754[PMID]_36606618[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/596937
- This record as JSON: /data/d/596937.json