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: C1864651
Disease: GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY 		0.700 Biomarker disease GENOMICS_ENGLAND Non-neuronopathic Gaucher disease due to saposin C deficiency. 17919309 2007
CUI: C1864651
Disease: GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY 		0.700 GeneticVariation disease UNIPROT Non-neuronopathic Gaucher disease due to saposin C deficiency. 17919309 2007
CUI: C1864651
Disease: GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY 		0.700 Biomarker disease GENOMICS_ENGLAND A non-glycosylated and functionally deficient mutant (N215H) of the sphingolipid activator protein B (SAP-B) in a novel case of metachromatic leukodystrophy (MLD). 10682309 2000
CUI: C1864651
Disease: GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY 		0.700 GeneticVariation disease UNIPROT Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease. 2060627 1991
CUI: C1864651
Disease: GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY 		0.700 Biomarker disease CTD_human
CUI: C1864651
Disease: GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY 		0.700 CausalMutation disease CLINVAR
CUI: C1864651
Disease: GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY 		0.700 GermlineCausalMutation disease ORPHANET
CUI: C2673266
Disease: KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY
KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY 		0.620 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: C2673266
Disease: KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY
KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY 		0.620 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C2673266
Disease: KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY
KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY 		0.620 Biomarker disease GENOMICS_ENGLAND A practical approach to diagnosing adult onset leukodystrophies. 24357685 2014
CUI: C2673266
Disease: KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY
KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY 		0.620 Biomarker disease GENOMICS_ENGLAND Non-neuronopathic Gaucher disease due to saposin C deficiency. 17919309 2007
CUI: C2673266
Disease: KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY
KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY 		0.620 Biomarker disease GENOMICS_ENGLAND 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: C2673266
Disease: KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY
KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY 		0.620 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: C2673266
Disease: KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY
KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY 		0.620 Biomarker disease GENOMICS_ENGLAND A non-glycosylated and functionally deficient mutant (N215H) of the sphingolipid activator protein B (SAP-B) in a novel case of metachromatic leukodystrophy (MLD). 10682309 2000
CUI: C2673266
Disease: KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY
KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY 		0.620 CausalMutation disease CLINVAR
CUI: C2673266
Disease: KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY
KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY 		0.620 Biomarker disease CTD_human
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: C0751278
Disease: Metachromatic Leukodystrophy, Infant
Metachromatic Leukodystrophy, Infant 		0.310 GeneticVariation disease BEFREE Late Infantile Metachromatic Leukodystrophy Due to Novel Pathogenic Variants in the PSAP Gene. 30632081 2019
CUI: C0751278
Disease: Metachromatic Leukodystrophy, Infant
Metachromatic Leukodystrophy, Infant 		0.310 GermlineCausalMutation disease ORPHANET A novel homozygous splicing mutation in PSAP gene causes metachromatic leukodystrophy in two Moroccan brothers. 24478108 2014
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
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic 		0.300 GeneticVariation disease BEFREE We report on two novel variants in the PSAP gene - c.679_681delAAG in the saposin B encoding exon 6 and c.1268delT in the saposin D encoding exon 11 in a patient with MLD. 30632081 2019
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic 		0.300 Biomarker disease BEFREE Hence, a final diagnosis of saposin B-deficient MLD was established. 31319425 2019
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic 		0.300 Biomarker disease BEFREE Deficiency of SapB leads to fatal activator-deficient metachromatic leukodystrophy. 29104953 2017
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic 		0.300 GeneticVariation disease BEFREE Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy. 26462614 2016
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic 		0.300 GeneticVariation disease BEFREE A novel homozygous splicing mutation in PSAP gene causes metachromatic leukodystrophy in two Moroccan brothers. 24478108 2014