Annotation Detail
Information
- Associated Genes
- ARSA
- Associated Variants
-
ARSA p.Thr410Ile (p.T410I)
(
ENST00000216124.10,
ENST00000356098.9,
ENST00000395619.3,
ENST00000395621.7,
ENST00000453344.6 )
ARSA p.Thr410Ile (p.T410I) ( ENST00000216124.10, ENST00000356098.9, ENST00000395619.3, ENST00000395621.7, ENST00000453344.6 ) - Associated Disease
- Leukodystrophy, Metachromatic
- Source Database
- DisGeNET
- Description
- We report the case of a 50-year-old woman and her 32-year-old daughter, both of whom are affected with adult-onset metachromatic leukodystrophy (MLD) clinically presenting as peripheral neuropathy.
- Pubmed
- 11456299
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.514051056554323
- Year of publication
- 2001
Drugs