IEMbase 0201: ATP7B-related Wilson disease
Scope
| Field | Value |
|---|---|
| IEMbase ID | 201 |
| Nosology | 22.1.01.01 |
| Gene | ATP7B |
| External IDs | OMIM:277900; ORPHA:905 |
| Generated mapping | MAPPED; Wilsons_Disease.yaml |
| Candidate DisMech targets | Wilsons_Disease.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as ATP7B-related copper-transporting ATPase subunit beta deficiency, with alternate labels Wilson disease and WND/WD. Treatability is marked yes.
The biochemical rows include normal-to-increased AST/ALT, variable prothrombin ratio, normal-to-decreased albumin, normal-to-increased bilirubin, decreased to normal serum ceruloplasmin and serum copper, normal-to-increased liver copper, and normal-to-markedly increased urinary copper. Characteristic clinical rows include hemolytic anemia, basal ganglia MRI lesions, dysarthria, dystonia, hepatosplenomegaly, jaundice, Kayser-Fleischer ring, liver dysfunction, acute liver failure, abnormal movement, neurologic symptoms, and speech disturbance. Additional rows include abdominal pain, ascites, ataxia, bladder diverticula, cataract, clumsiness, coagulopathy, drooling, handwriting difficulty, hemolysis, irritability, leukocytosis, hepatocellular carcinoma or hepatoblastoma, psychiatric disturbance, renal tubular acidosis, thrombocytopenia, and tremor. Treatment rows list tetrathiomolybdate, penicillamine, trientine, and zinc.
DisMech phenotype coverage
Wilsons_Disease.yaml is the correct target. The local entry covers ATP7B
loss, impaired biliary copper excretion and ceruloplasmin loading, hepatic and
extrahepatic copper toxicity, low ceruloplasmin, urinary copper, hepatic copper,
Kayser-Fleischer rings, sunflower cataract, hemolytic anemia, jaundice,
cirrhosis, acute liver failure, ascites, thrombocytopenia, renal tubular
acidosis, tremor, dystonia, dysarthria, ataxia, parkinsonism, dysphagia,
depression/psychosis, chelation with penicillamine or trientine, zinc therapy,
tetrathiomolybdate, liver transplantation, and investigational ATP7B gene
therapy.
Concordance and completeness
Judgement: correct mapped target with high concordance.
IEMbase and DisMech agree on ATP7B/Wilson disease identity, copper-retention biomarkers, hepatic injury, neurologic movement disorder, ocular copper deposition, hemolysis, renal tubular involvement, and the major copper-directed treatments. IEMbase adds some granular clinical rows that are not prominent in the local entry, including bladder diverticula, leukocytosis, handwriting difficulty, clumsiness, drooling, and explicit prothrombin/albumin laboratory rows. DisMech is richer for mechanism, evidence, treatment scope, differential diagnosis, clinical trials, and emerging cuproptosis/ferroptosis hypotheses.
Curation actions
- Keep this record mapped to
Wilsons_Disease.yaml. - Consider adding or reviewing the IEMbase-only rows for bladder diverticula, leukocytosis, handwriting difficulty, clumsiness, drooling, prothrombin ratio, and albumin if the Wilson entry is further enriched.
- No mapping correction is needed.