Idiopathic copper-associated cirrhosis
Synonyms: Non-Wilsonian hepatic copper toxicosis of infancy and childhood
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Childhood
- Status
- active
Idiopathic copper-associated cirrhosis is a rare copper-overload liver disease characterized by a rapidly progressive liver cirrhosis from the first few years of life leading to hepatic insufficiency and harboring a specific pathological aspect: pericellular fibrosis, inflammatory infiltration, hepatocyte necrosis, absence of steatosis, poor regeneration and histochemical copper staining.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Idiopathic copper-associated cirrhosis | Non-Wilsonian hepatic copper toxicosis of infancy and childhood |
| fr | Cirrhose idiopathique associée au cuivre | Toxicose hépatique au cuivre du nourrisson et de l'enfant de type non-Wilson · Toxicose hépatique cuprique du nourisson et de l'enfant de type non-Wilson · Toxicose idiopathique au cuivre |
| de | Leberzirrhose, idiopatische Kupfer-assoziierte | Hepatische Kupfertoxikose des Kindesalters (nicht-Wilson) · Idiopathische Kupfer-Zirrhose |
| es | Cirrosis idiopática asociada al cobre | Toxicosis hepática por cobre no Wilson infantil |
| it | Cirrosi idiopatica da rame | Tossicosi epatica da rame non-wilsoniana del periodo neonatale e dell'infanzia |
| nl | Idiopathische kopergeassocieerde cirrose | Niet-Wilsoniaanse hepatische kopertoxicose bij baby's en kinderen |
| pt | Cirrose idiopática associada ao cobre | |
| pl | Idiopatyczna marskość wątroby związana z miedzią | Uszkodzenie wątroby przez miedź występujące u niemowląt i dzieci, nie związane z chorobą Wilsona |
| cs | Idiopatická toxikóza způsobená mědí | Newilsonovská dětská hepatická toxikóza z mědi |
| uk | Ідіопатичний мідь-асоційований цироз печінки | Невільсоновський печінковий мідний токсикоз немовлят та дітей раннього віку |
| zh | 特发性铜相关性肝硬化 | 非威尔逊型婴幼儿儿童肝性铜中毒 |
| tr | İdiyopatik bakır -ilişkili siroz | Bebeklik ve çocukluk dönemi Wilsonyen olmayan hepatik bakır toksikozu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 215600 | NTBT | validated | |
| ICD-10 | K74.6 | NTBT | index | validated |
| ICD-11 | DB93.21 | E | specific | validated |
| MONDO | 0016204 | E | validated | |
| UMLS | C4274853 | 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:101939Rare parenchymal 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 | 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.
HPO phenotypes
6 annotations · validated 2021-12-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0001394 | Cirrhosis | |
| HP:0025321 | Copper accumulation in liver | |
| Frequent (79-30%) | ||
| HP:0001397 | Hepatic steatosis | |
| HP:0032254 | Increased circulating copper concentration | |
| HP:0010839 | Increased urinary copper concentration | |
| Excluded (0%) | ||
| HP:0010837 | Decreased circulating ceruloplasmin concentration | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 34321222[PMID]_21901654[PMID]_31161407[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/209919
- This record as JSON: /data/d/209919.json