Details of Disease

General Information of Disease (ID: DISCWKVO)

Disease Name Metachromatic leukodystrophy due to saposin B deficiency
Synonyms
saposin B deficiency; metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency; metachromatic leukodystrophy due to saposin b deficiency; metachromatic leukodystrophy due to sap-B deficiency
Disease Hierarchy
DISK8ST9: PSAP-related sphingolipidosis
DIS3OMWS: Metachromatic leukodystrophy
DISCWKVO: Metachromatic leukodystrophy due to saposin B deficiency
Disease Identifiers
MONDO ID
MONDO_0009590
MESH ID
C562609
UMLS CUI
C0268262
OMIM ID
249900
MedGen ID
120624
SNOMED CT ID
297278001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PSAP OTUOEKY7 Definitive Autosomal recessive [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.