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:
1
Gene:
1
Variant:
1
Reference:
1
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 |
Total 1,Each Page
,Jump To
Page