Wilson disease
multisystem disease due to abnormal accumulation of copper
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Summary
Wilson disease is a designated intractable/rare disease[1]. It draws 4,924 Wikipedia views per month (designated intractable rare disease category, ranking #40 of 201).[2]
Key Facts
- Discoverer or inventor: Samuel Alexander Kinnier Wilson[3]
- Instance of: rare disease[4], class of disease[5], symptom or sign[6]
- Named after: Samuel Alexander Kinnier Wilson[7]
- Subclass of: liver disease[8], metal metabolism disorder[9], copper metabolism disease[10], organic brain syndrome[11], rare hereditary metabolic disease with peripheral neuropathy[12], metabolic disease with cataract[13], metabolic disease with corneal opacity[14], supranuclear oculomotor palsy[15], tremor[16], rare genetic tremor disorder[17], rare metabolic liver disease[18], metal transport or utilization disorder with epilepsy[19], rare genetic epilepsy[20], neurometabolic disease[21]
- Commons category: Wilson's disease[22]
- ICPC 2 ID: A91[23]
- Symptoms and signs: edema[24], jaundice[25], personality change[26], blue nails[27], face of the giant panda sign[28], Kayser–Fleischer ring[29]
- Has cause: genetics[30]
- Mode of inheritance: autosomal recessive[31]
- External data available at URL: http://www.nanbyou.or.jp/entry/4543[32]
- Described by source: The Unified Medical Dictionary (Librairie du Liban, 2009)[33]
- NCI Thesaurus ID: C84756[34]
- Different from: Wilson's temperature syndrome[35]
- Health specialty: endocrinology[36]
- Drug or therapy used for treatment: triethylenetetramine[37], D-penicillamine[38]
- Genetic association: ATP7B[39]
- Exact match: http://purl.obolibrary.org/obo/DOID_893[40]
Why It Matters
Wilson disease has Wikipedia articles in 26 language editions, a strong signal of global cultural recognition.[41] It is known by 76 alternative names across languages and contexts.[42]