Megalencephalic leukoencephalopathy with subcortical cysts

A heriditary autosomal recessive leukodystrophy characterized by early-onset MEGALENCEPHALY and delayed-onset neurologic deterioration, including CEREBELLAR ATAXIA; MUSCLE SPASTICITY; EPILEPSY, and mild DEMENTIA. Mutations in the MLC1 gene have been identified. OMIM: 604004

Also Known As:

Infantile Leukoencephalopathy and Megalencephaly; Leukoencephalopathy with Swelling and A Discrepantly Mild Course; Leukoencephalopathy with swelling and cysts; Megalencephaly-cystic leukodystrophy; Vacuolating Leukoencephalopathy; Vacuolating megalencephalic leukoencephalopathy with subcortical cysts; Van Der Knapp Disease

Neoplasms: 1361496
- Cysts: 26232
  - Megalencephalic leukoencephalopathy with subcortical cysts: 34
Signs and Symptoms Pathological Conditions
- Anatomical Pathological Conditions
  - Cysts: 26232
    - Megalencephalic leukoencephalopathy with subcortical cysts: 34
Nervous System Diseases: 14737
- Neurodegenerative Diseases: 44095
  - Nervous System Heredodegenerative Disorders: 62
    - Hereditary Central Nervous System Demyelinating Diseases
      - Megalencephalic leukoencephalopathy with subcortical cysts: 34
- Demyelinating Diseases: 9340
  - Hereditary Central Nervous System Demyelinating Diseases
    - Megalencephalic leukoencephalopathy with subcortical cysts: 34
- Central Nervous System Diseases: 4371
  - Brain Diseases: 16141
    - Leukoencephalopathies: 1594
      - Hereditary Central Nervous System Demyelinating Diseases
        Megalencephalic leukoencephalopathy with subcortical cysts: 34
    - Metabolic Brain Diseases: 218
      - Inborn Metabolic Brain Diseases: 2
        Hereditary Central Nervous System Demyelinating Diseases
        Megalencephalic leukoencephalopathy with subcortical cysts: 34
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Inborn Errors Metabolism: 1183
    - Inborn Metabolic Brain Diseases: 2
      - Hereditary Central Nervous System Demyelinating Diseases
        Megalencephalic leukoencephalopathy with subcortical cysts: 34
  - Nervous System Heredodegenerative Disorders: 62
    - Hereditary Central Nervous System Demyelinating Diseases
      - Megalencephalic leukoencephalopathy with subcortical cysts: 34
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Inborn Errors Metabolism: 1183
    - Inborn Metabolic Brain Diseases: 2
      - Hereditary Central Nervous System Demyelinating Diseases
        Megalencephalic leukoencephalopathy with subcortical cysts: 34
  - Metabolic Brain Diseases: 218
    - Inborn Metabolic Brain Diseases: 2
      - Hereditary Central Nervous System Demyelinating Diseases
        Megalencephalic leukoencephalopathy with subcortical cysts: 34

B Q Yuan Selected Research

B Q Yuan Research Topics

Disease

Drug/Important Bio-Agent (IBA)