Wilson disease
Findings
No curated finding names Wilson disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.
Definition from the Mondo Disease Ontology (MONDO:0010200), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Young adult onset · Childhood onset · Intermediate young adult onset · Late young adult onset
HPO, annotations 2026-09-02
Features
82 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abdominal distentionHPOHP:0003270
- 1 of 1 reported patient
- Abnormality of extrapyramidal motor functionHPOHP:0002071
- 1 of 1 reported patient
- AnemiaHPOHP:0001903
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- AscitesHPOHP:0001541
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- CirrhosisHPOHP:0001394
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- Decreased circulating ceruloplasmin concentrationHPOHP:0010837
- 12 of 12 reported patients
Show the remaining 70
- Hepatic steatosisHPOHP:0001397
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- HepatomegalyHPOHP:0002240
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- High nonceruloplasmin-bound serum copperHPOHP:0010838
- 4 of 4 reported patients
- HyperbilirubinemiaHPOHP:0002904
- 2 of 2 reported patients
- HypoalbuminemiaHPOHP:0003073
- 2 of 2 reported patients
- HypokinesiaHPOHP:0002375
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ATP7BHGNC:870
- Definitive · ClinGen · Autosomal recessive · 2019
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: Wilson disease
- Also called
- hepatolenticular degenerationWestphal-Strumpell syndromeWilson's disease