Disorder "Metachromatic leukodystrophy"
Found 1 record
Disorder information
Disorder name:
Metachromatic leukodystrophy
Disoder ID:
OMIM entry:
Synonyms:
metachromatic leukodystrophy, MLD, arylsulfatase A deficiency, Arylsulfatase A deficiency, sulfatide lipoidosis, Scholz cerebral sclerosis, deficiency of cerebroside-sulfatase
Definition:
A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Altered severity(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| ARSA | ARSA:rs743616 | Expressivity | Altered severity | Gene activity study | The mutation may contribute to ARSA activity reduction, and, therefore, to the degree of disease severity.more | more |
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