PSAP, prosaposin, 5660

N. diseases: 189; N. variants: 15
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic 		0.300 AlteredExpression disease BEFREE Metachromatic leukodystrophy (MLD) is a rare lysosomal disorder caused by deficient activity of arylsulfatase A or the lack of saposin B, which results in the accumulation of sulfatide in the oligodendrocytes and in the Schwann cells. 24411407 2014
CUI: C0751276
Disease: Metachromatic leukodystrophy, juvenile type
Metachromatic leukodystrophy, juvenile type 		0.300 GermlineCausalMutation disease ORPHANET A novel homozygous splicing mutation in PSAP gene causes metachromatic leukodystrophy in two Moroccan brothers. 24478108 2014
CUI: C0751279
Disease: Metachromatic Leukodystrophy, Adult-Type (disorder)
Metachromatic Leukodystrophy, Adult-Type (disorder) 		0.300 GermlineCausalMutation disease ORPHANET A novel homozygous splicing mutation in PSAP gene causes metachromatic leukodystrophy in two Moroccan brothers. 24478108 2014
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic 		0.300 Biomarker disease MGD Tissue-specific effects of saposin A and saposin B on glycosphingolipid degradation in mutant mice. 23446636 2013
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic 		0.300 GeneticVariation disease BEFREE This genomic interval contains 95 known genes including the Prosaposin gene (PSAP) responsible for metachromatic leukodystrophy, which was excluded. 20721593 2011
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic 		0.300 GeneticVariation disease BEFREE Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations. 19267410 2009
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic 		0.300 AlteredExpression disease BEFREE Saposin B-dependent reconstitution of arylsulfatase A activity in vitro and in cell culture models of metachromatic leukodystrophy. 19224915 2009
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic 		0.300 GeneticVariation disease BEFREE Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles. 18693274 2008
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic 		0.300 Biomarker disease MGD Neurological deficits and glycosphingolipid accumulation in saposin B deficient mice. 18480170 2008
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic 		0.300 Biomarker disease BEFREE Metachromatic leukodystrophy (MLD) is a lysosomal storage disease caused by the deficiency of arylsulfatase A (ARSA) or saposin B. 14680985 2003
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic 		0.300 GeneticVariation disease BEFREE We identified a previously undescribed mutation (N215K) in the prosaposin gene of a patient with metachromatic leukodystrophy but with normal arylsulphatase A activity and elevated sulphatide in urine. 10196694 1999
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic 		0.300 GeneticVariation disease BEFREE Recently, patients have been identified who have a variant form of metachromatic leukodystrophy which is characterized by mutations in the gene coding for SAP-1, which is also called "prosaposin." 1350885 1992
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic 		0.300 Biomarker disease BEFREE The mechanism for a 33-nucleotide insertion in mRNA causing sphingolipid activator protein (SAP-1)-deficient metachromatic leukodystrophy. 2066109 1991
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic 		0.300 GeneticVariation disease BEFREE Detection of a point mutation in sphingolipid activator protein-1 mRNA in patients with a variant form of metachromatic leukodystrophy. 2302219 1990
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		0.250 GeneticVariation disease BEFREE We present this case to add to the literature on the rare diagnosis of atypical Krabbe disease due to saposin A deficiency, to report a novel presumed pathogenic variant within PSAP, and to suggest that individuals with saposin A deficiency may have elevated levels of psychosine, similar to children with classic Krabbe disease due to GALC deficiency. 31439510 2020
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		0.250 Biomarker disease BEFREE The patient's phenotype depends then on the nature of the second allele - atypical Gaucher disease in case of saposin A, MLD in case of saposin B, and Krabbe disease in case of saposin C impairing mutations. 30632081 2019
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		0.250 Biomarker disease MGD Tissue-specific effects of saposin A and saposin B on glycosphingolipid degradation in mutant mice. 23446636 2013
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		0.250 GeneticVariation disease BEFREE 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
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		0.250 Biomarker disease MGD The recently developed saposin A-/- mice showed a chronic form of globoid cell leukodystrophy, establishing the essential in vivo role of saposin A as an activator for galactosylceramidase to degrade galactosylceramide. 12810822 2003
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		0.250 Biomarker disease BEFREE Recently, deficiency of one of the sphingolipid activator proteins, saposin A, was demonstrated to cause a late-onset, slowly progressive globoid cell leukodystrophy at least in the mouse, with all of the phenotypic consequences of impaired degradation of galactosylceramidase substrates. 14572137 2003
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		0.250 Biomarker disease MGD A mutation in the saposin A domain of the sphingolipid activator protein (prosaposin) gene results in a late-onset, chronic form of globoid cell leukodystrophy in the mouse. 11371512 2001
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		0.250 Biomarker disease MGD Dramatic phenotypic improvement during pregnancy in a genetic leukodystrophy: estrogen appears to be a critical factor. 11726558 2001
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		0.250 GeneticVariation disease BEFREE A mutation in the saposin A domain of the sphingolipid activator protein (prosaposin) gene results in a late-onset, chronic form of globoid cell leukodystrophy in the mouse. 11371512 2001
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.100 Biomarker disease BEFREE No immunoreactivity against sapC was detected in healthy donors and in other plasma cell dyscrasias, demonstrating that anti-sapC reactivity is highly restricted to GD. 30450574 2019
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.100 GeneticVariation disease BEFREE The patient's phenotype depends then on the nature of the second allele - atypical Gaucher disease in case of saposin A, MLD in case of saposin B, and Krabbe disease in case of saposin C impairing mutations. 30632081 2019