megalencephalic leukoencephalopathy with subcortical cysts
Information
- Disease name
- megalencephalic leukoencephalopathy with subcortical cysts
- Disease ID
- DOID:0080315
- Description
- "A leukodystorphy characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worse with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline." [url:https\://ghr.nlm.nih.gov/condition/megalencephalic-leukoencephalopathy-with-subcortical-cysts]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT03047369 | Recruiting | The Myelin Disorders Biorepository Project | December 8, 2016 | December 8, 2030 |
- Disase is a (Disease Ontology)
- DOID:10579
- Cross Reference ID (Disease Ontology)
- GARD:3445
- Cross Reference ID (Disease Ontology)
- MESH:C536141
- Cross Reference ID (Disease Ontology)
- MIM:PS604004
- Cross Reference ID (Disease Ontology)
- ORDO:2478
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:703536004
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C1858854
- Exact Synonym (Disease Ontology)
- megalencephalic leukodystrophy megalencephaly-cystic leukodystorphy syndrome
- Exact Synonym (Disease Ontology)
- vacuolating megalencephalic leukoencephalopathy with subcortical cysts
- OrphaNumber from OrphaNet (Orphanet)
- 2478