Congenital portosystemic shunt
Synonyms: Congenital portosystemic venous fistula
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
Congenital portosystemic shunt is a rare, congenital anomaly of the great veins characterized by an abnormal communication between one or more veins of the portal and the caval systems, resulting in complete or partial diversion of the portal blood away from the liver to the systemic circulation. Clinical manifestations include liver atrophy, hypergalactosemia without uridine diphosphate enzyme deficiency, hyperammonemia, encephalopathy (resulting in learning disabilities, extreme fatigability and seizures), pulmonary hypertension, hypoxemia from hepatopulmonary syndrome and benign or malignant tumours.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital portosystemic shunt | Congenital portosystemic venous fistula |
| fr | Fistule portosystémique congénitale | |
| de | Portosystemischer Shunt, kongenitaler | Portosystemische Venenfistel, kongenitale |
| es | Shunt portosistémico congénito | Fístula venosa portosistémica congénita |
| it | Shunt portosistemico congenito | Fistola venosa porto-sistemica congenita |
| nl | Congenitale portosystemische shunt | Congenitale portosystemische veneuze fistel |
| pt | Shunt portosistémico congénito | Fístula congenita venosa portosistémica |
| pl | Wrodzone zespolenie wrotno-układowe | Wrodzona przetoka wrotno-układowa |
| cs | Vrozený portosystémový shunt | Congenital portosystemic venous fistula · Vrozená portosystémová žilní píštěl |
| uk | Вроджений портосистемний шунт | Вроджена портосистемна венозна нориця |
| zh | 先天性门体静脉分流 | 先天性门体静脉瘘 |
| tr | Doğumsal portosistemik şant | Doğumsal portosistemik venöz fistül |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q26.5 | NTBT | attributed | validated |
| ICD-11 | DB98.Y | NTBT | index | validated |
| MONDO | 0018811 | E | validated | |
| UMLS | C1290495 | 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 (3):
- ORPHA:3091Congenital systemic veins anomaly
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare circulatory system diseases - 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 |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 3 / 100 000 | Worldwide | Value and class | Validated | 29243189[PMID]_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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/480531
- This record as JSON: /data/d/480531.json