Details of Disease

General Information of Disease (ID: DISPIVDC)

Disease Name Gaucher disease due to saposin C deficiency
Synonyms
Gaucher disease, atypical; Gaucher disease, atypical, due to saposin C deficiency; Gaucher disease caused by mutation in PSAP; PSAP Gaucher disease; atypical Gaucher's disease due to saposin c deficiency; atypical Gaucher disease due to saposin C deficiency
Definition Any Gaucher disease in which the cause of the disease is a mutation in the PSAP gene.
Disease Hierarchy
DISK8ST9: PSAP-related sphingolipidosis
DISPIVDC: Gaucher disease due to saposin C deficiency
Disease Identifiers
MONDO ID
MONDO_0012517
UMLS CUI
C1864651
OMIM ID
610539
MedGen ID
350479
Orphanet ID
309252
SNOMED CT ID
1156792000

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.