megalencephalic leukoencephalopathy with subcortical cysts
hereditary CNS demyelinating disease
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Summary
megalencephalic leukoencephalopathy with subcortical cysts is a rare disease[1]. It draws 139 Wikipedia views per month (rare disease category, ranking #226 of 627).[2]
Key Facts
- Instance of: class of disease[3]
- Named after: Marjo van der Knaap[4]
- Subclass of: leukodystrophy[5]
- Prevalence: 0.000001[6]
- Genetic association: MLC1[7], HEPACAM[8]
- Age of onset: infantile onset[9], neonatal onset[10]
- Exact match: http://identifiers.org/doid/DOID:0080315[11], http://purl.obolibrary.org/obo/DOID_0080315[12]
- On focus list of Wikimedia project: WikiProject Medicine[13]
- Has phenotype: behavioral abnormality[14], seizure[15], cerebellar ataxia[16], spasticity[17], mild cognitive impairment[18], Q141815166[19], Q141815499[20], Q141815697[21], autism[22], disability affecting intellectual abilities[23], dystonia[24], basal ganglia disease[25], athetosis[26], Q141815163[27]
- P14914: D02478[28]
Why It Matters
megalencephalic leukoencephalopathy with subcortical cysts has Wikipedia articles in 5 language editions, a strong signal of global cultural recognition.[29] It is known by 13 alternative names across languages and contexts.[30]