Disease Information for Wilson's disease carrier

Clinical Manifestations
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Population/Pediatrics population
Family History
Family history/Liver disease
Family history/Dementia
Family history/Tremor
Sex & Age Groups
Laboratory Tests
Abnormal Lab Findings - Decreased
Ceruloplasmin (Lab)
Diagnostic Test Results
Other Tests & Procedures
TEST/Penicillamine challenge/Wilsons abnormal
Isotope Scan
Isotope/Radiocopper isotope/blood second peak/abnormal
Isotope/RadioCu ceruloplasmin incorporation test abnormal
Disease Mechanism & Classification
CLASS/Liver/gallbladder/ducts (category)
Pathophysiology/Gene locus Chromosome 13
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/ATP7B gene mutation/defect
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Copper/metabolism disorders (ex)
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Eponymic (category)
PROCESS/Hereditofamilial (category)
PROCESS/Metabolic/storage disorder (category)
PROCESS/Movement disorder (ex)
PROCESS/Storage disorder (ex)
Other Treatments
TX/Genetic counselling

Heterozygous state for Wilsons disease; A rare autosomal recessive disease characterized by the deposition of copper in the BRAIN; LIVER; CORNEA; and other organs; Clinical features include LIVER CIRRHOSIS; LIVER FAILURE; SPLENOMEGALY; TREMOR; bradykinesia; DYSARTHRIA; CHOREA; MUSCLE RIGIDITY; Kayser-Fleischer rings (pigmented corneal lesions); ATAXIA; and intellectual deterioration; Hepatic dysfunction may precede neurologic dysfunction by several years; (From Adams et al, Principles of Neurology, 6th ed pp969-71)Wilson"s disease was first described by Dr Wilson in 1912; It is an autosomal recessive disorder of copper metabolism, characterized by accumulation of copper which is toxic for cells; Its prevalence is 1/30,000; The gene responsible, ATP7B, was mapped to chromosome 13; It encodes a protein belonging to the P-type ATPases family; This protein is a copper transporter necessary for excretion of copper into the bile as well as its incorporation into ceruloplasmin (plasma transporter protein); some 20% of Carrier or heterozygote patients have low ceruloplasmin; The disease is mainly characterized by hepatic and neuropsychiatric symptoms: Association of low ceruloplasmin level (<20mg/dl) and Kayser Fleicher ring is sufficient to establish the diagnosis for homozygous state, for those who present with ceruloplasmin levels > 20mg/dl), liver biopsy with quantification of copper should be performed; ----[Orphanet editorial team -April 2003]----


External Links Related to Wilson's disease carrier
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)