PSAP, prosaposin, 5660

N. diseases: 189; N. variants: 15
Disease: Lysosomal Storage Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085078
Disease: Lysosomal Storage Diseases
Lysosomal Storage Diseases 		0.040 GeneticVariation group BEFREE Mutations causing an absence or impaired function of individual saposins or the whole prosaposin gene lead to distinct LSDs due to the storage of different classes of sphingolipids. 27913291 2017
CUI: C0085078
Disease: Lysosomal Storage Diseases
Lysosomal Storage Diseases 		0.040 Biomarker group BEFREE Prosaposin (PSAP) deficiency is an ultra-rare, fatal infantile lysosomal storage disorder (LSD) caused by variants in the PSAP gene, with seven subjects reported so far. 26831127 2016
CUI: C0085078
Disease: Lysosomal Storage Diseases
Lysosomal Storage Diseases 		0.040 Biomarker group BEFREE A minimal domain required for PSAP's neurotrophic function is located in the amino-terminal half of saposin C. Genetic defects of the PSAP gene in humans and mice lead to a complex lysosomal storage disease. 16179529 2005
CUI: C0085078
Disease: Lysosomal Storage Diseases
Lysosomal Storage Diseases 		0.040 Biomarker group BEFREE Metachromatic leukodystrophy (MLD) is a lysosomal storage disease caused by the deficiency of arylsulfatase A (ARSA) or saposin B. 14680985 2003