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Disease Information for Pelizaeus-Merzbacher disease: Disease Mechanism & Classification

Class: CLASS/Jablonski/NIH Archive Anomalies Database; CLASS/Pediatric disorders (ex)
: CLASS/Basal ganglia lesion/involvement/disorders (ex); CLASS/Brain/CNS disorder (ex); CLASS/Neurologic (category)
Pathophysiology: Pathophysiology/Dominant and Autosomal recessive variants; Pathophysiology/Gene locus Chromosome X.; Pathophysiology/Gene locus Chromosome Xq; Pathophysiology/Gene Locus Identified/OMIM database; Pathophysiology/Gene locus Xq22; Pathophysiology/Genomic base pair repeats mutation; Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations); Pathophysiology/Infants males/adults possible females/dominant; Pathophysiology/PLP gene seven exon/mutation/deletion/repeats; Pathophysiology/X-linked and autosomal dominant types
: Pathophysiology/Cerebral demyelination; Pathophysiology/CNS degeneration; Pathophysiology/CNS Proteolipid protein (PLP) gene; Pathophysiology/Demyelination; Pathophysiology/Oligodendrocyte/CNS defective development
Process: PROCESS/Autosomal dominant hereditary disease (ex).; PROCESS/Developmental/delayed expression disorder (ex); PROCESS/Eponymic (category); PROCESS/Hereditofamilial (category); PROCESS/Heterogenous group of disorders (ex); PROCESS/INCIDENCE/Extremely rare disease; PROCESS/Sex-linked (X-linked) recessive inheritance (ex); PROCESS/Subsets/Variable dominance/sex linkage; PROCESS/Two/multiple subsets/disease pattern
: PROCESS/Hereditary ataxia disorder (ex); PROCESS/Hereditary SCA (spinocerebellar ataxias); PROCESS/Leukodystrophy process (ex)

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