DisGeNET - a database of gene-disease associations

Niemann-Pick Diseases, C0028064

Gene: SMPD1 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs120074117

SMPD1

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

dbSNP:

rs120074117

SMPD1

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

dbSNP:

rs120074124

SMPD1

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

dbSNP:

rs120074124

SMPD1

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

dbSNP:

rs797044800

SMPD1

0.710

GeneticVariation

BEFREE

Structural and functional analysis of the ASM p.Ala359Asp mutant that causes acid sphingomyelinase deficiency.

27659707

2016

dbSNP:

rs1050228

SMPD1

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

dbSNP:

rs120074120

SMPD1

0.010

GeneticVariation

BEFREE

Transient expression of the fsL178, L261X, and M382I mutations in COS-1 cells demonstrated that these lesions did not produce catalytically active ASM, consistent with the severe neuronopathic Type A NPD phenotype.

1618760

1992

dbSNP:

rs120074121

SMPD1

0.010

GeneticVariation

BEFREE

1618760

1992

dbSNP:

rs1319643225

SMPD1

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

dbSNP:

rs267607073

SMPD1

0.010

GeneticVariation

BEFREE

To elucidate the genetic heterogeneity of apoptotic induction in NPD cells, we investigated radiation-induced apoptosis of lymphoblasts in patients with type A (genotype: IVS3-2A-G/IVS3-2A-G) and type B (genotype: S436R/S436R) NPD.

12084440

2002

dbSNP:

rs370129081

SMPD1

0.010

GeneticVariation

BEFREE

For this purpose, we have used cultured Niemann-Pick disease (NPD) lymphoid cells with a defined mutation (R600H) in the aSMase protein.

9516458

1998

dbSNP:

rs398123478

SMPD1

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

dbSNP:

rs749780080

SMPD1

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

dbSNP:

rs750779804

SMPD1

0.010

GeneticVariation

BEFREE

12556236

2003

dbSNP:

rs753508874

SMPD1

0.010

GeneticVariation

BEFREE

12556236

2003

dbSNP:

rs786204506

SMPD1

0.010

GeneticVariation

BEFREE

15241805

2004

dbSNP:

rs797044800

SMPD1

0.710

CausalMutation

CLINVAR

Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B.

25920558

2016

dbSNP:

rs797044799

SMPD1

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

dbSNP:

rs797044799

SMPD1

0.700

CausalMutation

CLINVAR

Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease.

17011332

2006

dbSNP:

rs797044799

SMPD1

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

dbSNP:

rs120074124

SMPD1

0.720

CausalMutation

CLINVAR

dbSNP:

rs747342458

SMPD1

0.700

CausalMutation

CLINVAR

The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations.

12369017

2002

dbSNP:

rs797044797

SMPD1

0.700

CausalMutation

CLINVAR

dbSNP:

rs797044798

SMPD1

0.700

CausalMutation

CLINVAR

dbSNP:

rs120074117

SMPD1

0.720

CausalMutation

CLINVAR