DISEASE: Autosomal dominant pontine microangiopathy and leukoencephalopathy
Entry
H02718 Disease
Name
Autosomal dominant pontine microangiopathy and leukoencephalopathy
Description
Autosomal dominant pontine microangiopathy and leukoencephalopathy (PADMAL) is a rare hereditary cerebral small vessel disease characterized by multiple small infarctions in the pons. Mutations causing overproduction of COL4A1, encoding collagen type IV alpha 1 chain, have been identified in patients with this disease. Collagen type IV is one of the components of the brain vascular basement membrane responsible for maintaining mechanical stability.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Cerebrovascular diseases
8B22 Certain specified cerebrovascular diseases
H02718 Autosomal dominant pontine microangiopathy and leukoencephalopathy
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06539 Cytoskeleton in muscle cells
H02718 Autosomal dominant pontine microangiopathy and leukoencephalopathy
