|
rs120074124
|
|
|
0.720 |
GeneticVariation |
BEFREE |
A founder mutation, p.L302P, in sphingomyelin phosphodiesterase 1, acid lysosomal (SMPD1), causing Niemann-Pick disease, a recessive lysosomal storage disorder, was reported to be associated with increased risk of Parkinson's disease (PD) in Ashkenazi Jewish population.
|
27814975 |
2017 |
|
rs120074117
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Herein we describe detailed characterization of four common mutations (L302P, H421Y, R496L and DeltaR608) within the acid sphingomyelinase (ASM) gene causing types A and B Niemann-Pick disease (NPD).
|
18815062 |
2008 |
|
rs120074117
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Recently, a missense mutation in the ASM gene (designated R496L) was detected in more than 30% of the ASM alleles from Ashkenazi Jewish type A NPD patients.
|
1391960 |
1992 |
|
rs120074124
|
|
|
0.720 |
GeneticVariation |
BEFREE |
The identification of the L302P mutation should further facilitate molecular carrier detection for NPD in the Ashkenazi Jewish population, particularly because the L302P mutation can be easily detected using the restriction enzyme, AlwNl.
|
1391960 |
1992 |
|
rs120074117
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
|
|
|
|
rs120074124
|
|
C |
0.720 |
CausalMutation |
CLINVAR |
|
|
|
|
rs797044800
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Structural and functional analysis of the ASM p.Ala359Asp mutant that causes acid sphingomyelinase deficiency.
|
27659707 |
2016 |
|
rs797044800
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B.
|
25920558 |
2016 |
|
rs797044799
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease.
|
17011332 |
2006 |
|
rs797044799
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study.
|
15877209 |
2005 |
|
rs120074118
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
The natural history of type B Niemann-Pick disease: results from a 10-year longitudinal study.
|
15545621 |
2004 |
|
rs120074118
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
The R608del mutation in the acid sphingomyelinase gene (SMPD1) is the most prevalent among patients from Gran Canaria Island with Niemann-Pick disease type B.
|
12694237 |
2003 |
|
rs797044799
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Niemann-Pick disease type A and B are clinically but also enzymatically heterogeneous: pitfall in the laboratory diagnosis of sphingomyelinase deficiency associated with the mutation Q292 K.
|
14681755 |
2003 |
|
rs120074126
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations.
|
12369017 |
2002 |
|
rs747342458
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations.
|
12369017 |
2002 |
|
rs182812968
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs387906289
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs797044797
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs797044798
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1050228
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Four novel p.N385K, p.V36A, c.1033-1034insT and c.1417-1418delCT mutations in the sphingomyelin Phosphodiesterase 1 (SMPD1) gene in patients with types A and B Niemann-Pick disease (NPD).
|
25811928 |
2015 |
|
rs398123478
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We present a case of a 9-month infant with clinical manifestations intermediate between types A and B NPD and genetically illustrating a novel R542X mutation in the exon 6 of SMPD1.
|
23188845 |
2012 |
|
rs749780080
|
|
|
0.010 |
GeneticVariation |
BEFREE |
As a consequence of either c.2T>G (p.M1_W32del) or c.96G>A (p.W32X), impaired translation from the first in-frame ATG results in a mild NPD-B phenotype instead of the severe phenotype expected for a complete deficiency of the enzyme, suggesting that when the first ATG is not functional, the second initiation codon (ATG33) still produces a fairly functional sphingomyelinase.
|
15241805 |
2004 |
|
rs786204506
|
|
|
0.010 |
GeneticVariation |
BEFREE |
As a consequence of either c.2T>G (p.M1_W32del) or c.96G>A (p.W32X), impaired translation from the first in-frame ATG results in a mild NPD-B phenotype instead of the severe phenotype expected for a complete deficiency of the enzyme, suggesting that when the first ATG is not functional, the second initiation codon (ATG33) still produces a fairly functional sphingomyelinase.
|
15241805 |
2004 |
|
rs1319643225
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Among four NPD type A patients we found two homozygotes for the g.1421C > T (H319Y) and g.3714T > C (Y537H) mutations and two compound heterozygotes, one for the g.3337T > C (F463S) and g.3373C > T (P475L) mutations and the other for the g.84delC (G29fsX74) and g.1208A > C (S248R) mutations.
|
12556236 |
2003 |
|
rs750779804
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Among four NPD type A patients we found two homozygotes for the g.1421C > T (H319Y) and g.3714T > C (Y537H) mutations and two compound heterozygotes, one for the g.3337T > C (F463S) and g.3373C > T (P475L) mutations and the other for the g.84delC (G29fsX74) and g.1208A > C (S248R) mutations.
|
12556236 |
2003 |