Details of Disease

General Information of Disease (ID: DISB6MVK)

Disease Name Combined PSAP deficiency
Synonyms PSAPD; combined Sap deficiency; combined saposin deficiency; prosaposin deficiency; combined SAP deficiency; combined prosaposin deficiency; encephalopathy due to prosaposin deficiency
Definition Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses.
Disease Hierarchy
DISK8ST9: PSAP-related sphingolipidosis
DISB6MVK: Combined PSAP deficiency
Disease Identifiers
MONDO ID
MONDO_0012719
MESH ID
C567125
UMLS CUI
C2673635
OMIM ID
611721
MedGen ID
382151
Orphanet ID
139406

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.