PSAP, prosaposin, 5660

N. diseases: 189; N. variants: 15
Disease: Infantile Globoid Cell Leukodystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751273
Disease: Infantile Globoid Cell Leukodystrophy
Infantile Globoid Cell Leukodystrophy 		0.310 Biomarker disease BEFREE Deficiency of saposin A leads to a clinical picture identical to that of early-infantile Krabbe disease caused by GALC enzyme deficiency. 31439510 2020
CUI: C0751273
Disease: Infantile Globoid Cell Leukodystrophy
Infantile Globoid Cell Leukodystrophy 		0.310 GermlineCausalMutation disease ORPHANET A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: first report of saposin A deficiency in humans. 15773042 2005