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Megalencephalic leukoencephalopathy with subcortical cysts
3 OMIM references -
2 associated genes
7 connected diseases
No signs/symptoms info
Disease Type of connection
Familial thoracic aortic aneurysm and aortic dissection
Berardinelli-Seip congenital lipodystrophy
Diffuse cutaneous systemic sclerosis
Heritable pulmonary arterial hypertension
Left ventricular noncompaction
Limited cutaneous systemic sclerosis
Romano-Ward syndrome
Synonym(s):
- MLC
- Megalencephalic leukodystrophy
- Megalencephaly - cystic leukodystrophy
- Vacuolating megalencephalic leukoencephalopathy with subcortical cysts
- Van der Knaap syndrome
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
3 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
HEPACAM Q14CZ8611642
MLC1 Q15049605908
No signs/symptoms info available.