metachromatic leukodystrophy
GPTKB entity
Statements (34)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
leukodystrophy lysosomal storage disease |
| gptkbp:affects |
central nervous system
peripheral nervous system |
| gptkbp:causedBy |
mutation in ARSA gene
mutation in PSAP gene |
| gptkbp:deficiencyCauses |
gptkb:arylsulfatase_A
|
| gptkbp:diagnosedBy |
MRI
genetic testing enzyme assay |
| gptkbp:firstDescribed |
1925
|
| gptkbp:frequency |
rare
|
| gptkbp:hasBiomarker |
sulfatide accumulation
|
| gptkbp:hasOrphanetID |
ORPHA:46
|
| https://www.w3.org/2000/01/rdf-schema#label |
metachromatic leukodystrophy
|
| gptkbp:ICD-10_code |
E75.2
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:MeSH_ID |
D007899
|
| gptkbp:namedAfter |
metachromasia
|
| gptkbp:OMIM |
250100
|
| gptkbp:onset |
adult
juvenile late-infantile |
| gptkbp:symptom |
gptkb:dementia
behavioral changes muscle weakness vision loss seizures progressive loss of motor function |
| gptkbp:treatment |
supportive care
hematopoietic stem cell transplantation |
| gptkbp:bfsParent |
gptkb:ARS_(gene)
|
| gptkbp:bfsLayer |
6
|