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: C0268262
Disease: Metachromatic Leukodystrophy due to Saposin B Deficiency
Metachromatic Leukodystrophy due to Saposin B Deficiency 		0.710 GeneticVariation disease CLINVAR Late Infantile Metachromatic Leukodystrophy Due to Novel Pathogenic Variants in the PSAP Gene. 30632081 2019
CUI: C0268262
Disease: Metachromatic Leukodystrophy due to Saposin B Deficiency
Metachromatic Leukodystrophy due to Saposin B Deficiency 		0.710 CausalMutation disease CLINVAR Late Infantile Metachromatic Leukodystrophy Due to Novel Pathogenic Variants in the PSAP Gene. 30632081 2019
CUI: C0268262
Disease: Metachromatic Leukodystrophy due to Saposin B Deficiency
Metachromatic Leukodystrophy due to Saposin B Deficiency 		0.710 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C2673635
Disease: Combined Saposin Deficiency
Combined Saposin Deficiency 		0.710 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0268262
Disease: Metachromatic Leukodystrophy due to Saposin B Deficiency
Metachromatic Leukodystrophy due to Saposin B Deficiency 		0.710 Biomarker disease GENOMICS_ENGLAND A practical approach to diagnosing adult onset leukodystrophies. 24357685 2014
CUI: C0268262
Disease: Metachromatic Leukodystrophy due to Saposin B Deficiency
Metachromatic Leukodystrophy due to Saposin B Deficiency 		0.710 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: C2673635
Disease: Combined Saposin Deficiency
Combined Saposin Deficiency 		0.710 CausalMutation disease CLINVAR Sphingolipid activator protein B deficiency: report of 9 Saudi patients and review of the literature. 19955343 2009
CUI: C2673635
Disease: Combined Saposin Deficiency
Combined Saposin Deficiency 		0.710 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: C0268262
Disease: Metachromatic Leukodystrophy due to Saposin B Deficiency
Metachromatic Leukodystrophy due to Saposin B Deficiency 		0.710 Biomarker disease GENOMICS_ENGLAND Non-neuronopathic Gaucher disease due to saposin C deficiency. 17919309 2007
CUI: C2673635
Disease: Combined Saposin Deficiency
Combined Saposin Deficiency 		0.710 Biomarker disease GENOMICS_ENGLAND Non-neuronopathic Gaucher disease due to saposin C deficiency. 17919309 2007
CUI: C2673635
Disease: Combined Saposin Deficiency
Combined Saposin Deficiency 		0.710 Biomarker disease GENOMICS_ENGLAND A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation. 11309366 2001
CUI: C0268262
Disease: Metachromatic Leukodystrophy due to Saposin B Deficiency
Metachromatic Leukodystrophy due to Saposin B Deficiency 		0.710 GeneticVariation disease UNIPROT 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: C0268262
Disease: Metachromatic Leukodystrophy due to Saposin B Deficiency
Metachromatic Leukodystrophy due to Saposin B Deficiency 		0.710 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: C2673635
Disease: Combined Saposin Deficiency
Combined Saposin Deficiency 		0.710 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: C0268262
Disease: Metachromatic Leukodystrophy due to Saposin B Deficiency
Metachromatic Leukodystrophy due to Saposin B Deficiency 		0.710 GeneticVariation disease UNIPROT An Asn > Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity. 10196694 1999
CUI: C2673635
Disease: Combined Saposin Deficiency
Combined Saposin Deficiency 		0.710 GermlineCausalMutation disease ORPHANET Simultaneous deficiency of sphingolipid activator proteins 1 and 2 is caused by a mutation in the initiation codon of their common gene. 1371116 1992
CUI: C0268262
Disease: Metachromatic Leukodystrophy due to Saposin B Deficiency
Metachromatic Leukodystrophy due to Saposin B Deficiency 		0.710 GeneticVariation disease UNIPROT Sulfatide activator protein. Alternative splicing that generates three mRNAs and a newly found mutation responsible for a clinical disease. 2019586 1991
CUI: C0268262
Disease: Metachromatic Leukodystrophy due to Saposin B Deficiency
Metachromatic Leukodystrophy due to Saposin B Deficiency 		0.710 GeneticVariation disease UNIPROT Detection of a point mutation in sphingolipid activator protein-1 mRNA in patients with a variant form of metachromatic leukodystrophy. 2302219 1990
CUI: C0268262
Disease: Metachromatic Leukodystrophy due to Saposin B Deficiency
Metachromatic Leukodystrophy due to Saposin B Deficiency 		0.710 GeneticVariation disease CLINVAR Detection of a point mutation in sphingolipid activator protein-1 mRNA in patients with a variant form of metachromatic leukodystrophy. 2302219 1990
CUI: C0268262
Disease: Metachromatic Leukodystrophy due to Saposin B Deficiency
Metachromatic Leukodystrophy due to Saposin B Deficiency 		0.710 GeneticVariation disease CLINVAR Characterization of a mutation in a family with saposin B deficiency: a glycosylation site defect. 2320574 1990
CUI: C0268262
Disease: Metachromatic Leukodystrophy due to Saposin B Deficiency
Metachromatic Leukodystrophy due to Saposin B Deficiency 		0.710 GeneticVariation disease UNIPROT Characterization of a mutation in a family with saposin B deficiency: a glycosylation site defect. 2320574 1990
CUI: C2673635
Disease: Combined Saposin Deficiency
Combined Saposin Deficiency 		0.710 Biomarker disease GENOMICS_ENGLAND The eligibility of older people for community services: mental health aspects. Roles and attitudes toward retirement and pre-retirement planning. 249900 1978
CUI: C0268262
Disease: Metachromatic Leukodystrophy due to Saposin B Deficiency
Metachromatic Leukodystrophy due to Saposin B Deficiency 		0.710 Biomarker disease CTD_human
CUI: C2673635
Disease: Combined Saposin Deficiency
Combined Saposin Deficiency 		0.710 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 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016