Disorder "Adrenoleukodystrophy"
Found 1 record
Disorder information
Disorder name:
Adrenoleukodystrophy 
Disoder ID:
OMIM entry:
Synonyms:
ALD,Bronze Schilder disease,Encephalitis periaxialis concentrica,Encephalitis periaxialis, Schilder's,SUDANOPHILIC CEREBRAL SCLEROSIS,Schilder disease,Siemerling-Creutzfeldt Disease,X-linked adrenoleukodystrophy,diffuse sclerosis,Schilder's disease,diffuse cerebral sclerosis of Schilder 
Definition:
A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death. 
Modifier statisitcs
Record:
Gene:
Variant:
Reference:
Effect type:
Penetrance(1)  
Modifier effect:
Altered incidence(1)  
Modifier gene Variant Effect type Modifier effect Evidence Effect PubMed ID
CBS CBS:c.844_845ins68 Penetrance  Altered incidence  P=0.001  The cystathionine beta-synthase variant c.844_845ins68 protects against CNS demyelination in X-linked adrenoleukodystrophy.more more
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