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ORPHA:905Disease
Also called Hepatolenticular degeneration
What it is
A rare genetic disorder of copper metabolism presenting with non-specific hepatic, neurologic, psychiatric or ophthalmologic manifestations due to impaired biliary copper excretion and consecutive excessive copper deposition in the body.
Key facts
- Prevalence
- 1-9 / 100 000
- Age of onset
- Adolescent, Adult, Childhood, Elderly
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
33- Abnormality of the hand
- Abnormality of the menstrual cycle
- Acute hepatic failure
- Acute hepatitis
- Aggressive behavior
- Amplification of sexual behavior
- Anemia
- Arthralgia
- Arthritis
- Back pain
- Bone pain
- Bruising susceptibility
- Cirrhosis
- Clumsiness
- Depression
- Dysarthria
- Elevated circulating hepatic transaminase concentration
- Failure to thrive
- Gait disturbance
- Hepatic steatosis
- Hepatitis
- Hepatomegaly
- Increased body weight
- Intellectual disability
- Jaundice
- Joint swelling
- Kayser-Fleischer ring
- Pathologic fracture
- Proximal muscle weakness in lower limbs
- Pruritus
- Splenomegaly
- Thrombocytopenia
- Weight loss
Common30–79%
7Sometimes5–29%
15- Abdominal pain
- Aminoaciduria
- Anxiety
- Ascites
- Excessive salivation
- Focal T2 hyperintense brainstem lesion
- Hallucinations
- Hypoparathyroidism
and 7 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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