Hepatic veno-occlusive disease
Synonyms: Sinusoidal obstruction syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
A rare vascular liver disease characterized by toxic injury to the hepatic sinusoidal capillaries that leads to obstruction of the small hepatic veins and sinusoids. Clinical manifestations include painful hepatomegaly, jaundice, and fluid retention that manifests by weight gain, edemas, and ascites.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hepatic veno-occlusive disease | Sinusoidal obstruction syndrome |
| fr | Maladie veino-occlusive hépatique | Syndrome d'obstruction sinusoïdale |
| de | Lebervenen-Verschlusskrankheit | Sinusoidales Obstruktionssyndrom |
| es | Enfermedad veno-oclusiva hepática | Síndrome de obstrucción sinusoidal |
| it | Malattia veno-occlusiva epatica | Sindrome da ostruzione dei sinusoidi |
| nl | Veno-occlusieve ziekte van lever | Sinusoïdale obstructie-syndroom |
| pt | Doença veno-oclusiva hepática | |
| pl | Choroba zarostowa żył wątrobowych | Zespół niedrożności zatok wątrobowych |
| cs | Jaterní žilní okluze | Syndrom sinusoidální obstrukce · Venookluzivní choroba jater · Syndrom jaterní sinusoidální obstrukce · Sinusoidální obstrukční syndrom |
| uk | Печінкова венооклюзивна хвороба | Синдром синусоїдальної обструкції |
| zh | 肝静脉闭塞性疾病 | 肝窦阻塞综合征 |
| tr | Hepatik veno-okluzif hastalık | Sinüzoidal tıkanma sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | K76.5 | E | specific | validated |
| ICD-11 | DB98.6 | E | specific | validated |
| MONDO | 0019514 | E | validated | |
| MeSH | D006504 | E | validated | |
| UMLS | C0019156 | E | validated | |
| GARD | 13004 | E | validated | |
| MedDRA | 10047216 | 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 (2):
- ORPHA:506210Rare disorder potentially indicated for liver transplant
rare transplant-related disorders - ORPHA:101938Rare vascular liver disease
rare hepatic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| 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
12 annotations · validated 2017-01-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0001541 | Ascites | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0002240 | Hepatomegaly | |
| HP:0004324 | Increased body weight | |
| HP:0003573 | Increased total bilirubin | |
| HP:0000952 | Jaundice | |
| HP:0000083 | Renal insufficiency | |
| HP:0002878 | Respiratory failure | |
| Frequent (79-30%) | ||
| HP:0001928 | Abnormality of coagulation | |
| HP:0003645 | Prolonged partial thromboplastin time | |
| Very rare (<4-1%) | ||
| HP:0002480 | Hepatic encephalopathy | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 21656652[PMID]_26412181[PMID]_25300869[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/890
- This record as JSON: /data/d/890.json