Gene: SMPD1

Alternate names for this Gene: ASM|ASMASE|NPD

Gene Summary: The protein encoded by this gene is a lysosomal acid sphingomyelinase that converts sphingomyelin to ceramide. The encoded protein also has phospholipase C activity. Defects in this gene are a cause of Niemann-Pick disease type A (NPA) and Niemann-Pick disease type B (NPB). Multiple transcript variants encoding different isoforms have been identified.

Gene is located in Chromosome: 11

Location in Chromosome : 11p15.4

Description of this Gene: sphingomyelin phosphodiesterase 1

Type of Gene: protein-coding

rs1050239 in SMPD1 gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

PMID 31320639 2019 Genome and epigenome wide studies of neurological protein biomarkers in the Lothian Birth Cohort 1936.

rs1057516403 in SMPD1 gene and Niemann-Pick Disease, Type A PMID 14681755 2003 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.

PMID 15877209 2005 Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study.

PMID 18052040 2007 Carboxyl-terminal disulfide bond of acid sphingomyelinase is critical for its secretion and enzymatic function.

PMID 26499107 2016 SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants.

PMID 24718843 2015 Cirrhosis and liver failure: expanding phenotype of Acid sphingomyelinase-deficient niemann-pick disease in adulthood.

PMID 1885770 1991 The other cDNA clones from this patient had the R496L mutation previously identified in Type A Niemann-Pick disease patients.

PMID 17011332 2006 Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease.

PMID 15221801 2004 Screening of 25 Italian patients with Niemann-Pick A reveals fourteen new mutations, one common and thirteen private, in SMPD1.

PMID 1391960 1992 Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients.

PMID 18815062 2008 Characterization of common SMPD1 mutations causing types A and B Niemann-Pick disease and generation of mutation-specific mouse models.

PMID 18197057 2008 Carrier screening in individuals of Ashkenazi Jewish descent.

PMID 8680412 1995 Two new mutations in the acid sphingomyelinase gene causing type a Niemann-pick disease: N389T and R441X.

PMID 1618760 1992 Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B Niemann-Pick disease. Molecular evidence for genetic heterogeneity in the neuronopathic and non-neuronopathic forms.

PMID 8693491 1995 Identification and expression of a missense mutation (Y446C) in the acid sphingomyelinase gene from a Japanese patient with type A Niemann-Pick disease.

PMID 12556236 2003 Seven novel acid sphingomyelinase gene mutations in Niemann-Pick type A and B patients.

PMID 1718266 1991 Molecular basis of acid sphingomyelinase deficiency in a patient with Niemann-Pick disease type A.

PMID 19405096 2009 Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients.

PMID 20386867 2010 Identification and characterization of eight novel SMPD1 mutations causing types A and B Niemann-Pick disease.

PMID 23430884 2012 Molecular genetic characterization of novel sphingomyelin phosphodiesterase 1 mutations causing niemann-pick disease.

PMID 22818240 2012 Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients.

PMID 2023926 1991 Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients.

PMID 27338287 2016 Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease.

PMID 9266408 1997 Two novel mutations in patients with atypical phenotypes of acid sphingomyelinase deficiency.

PMID 23252888 2013 Identification of seven novel SMPD1 mutations causing Niemann-Pick disease types A and B.

PMID 19888064 2009 ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.

PMID 12694237 2003 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.

PMID 1885770 1991 Niemann-Pick type B disease. Identification of a single codon deletion in the acid sphingomyelinase gene and genotype/phenotype correlations in type A and B patients.

PMID 8225311 1993 Deletion of arginine (608) in acid sphingomyelinase is the prevalent mutation among Niemann-Pick disease type B patients from northern Africa.

PMID 26169695 2015 The contribution of Niemann-Pick SMPD1 mutations to Parkinson disease in Ashkenazi Jews.

PMID 24446175 2014 The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease.

PMID 8401540 1993 Type A Niemann-Pick disease: a frameshift mutation in the acid sphingomyelinase gene (fsP330) occurs in Ashkenazi Jewish patients.

PMID 23535491 2013 The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease.

PMID 1391960 1992 Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients.

PMID 17360762 2007 Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation.

PMID 7762557 1995 Molecular analysis of the acid sphingomyelinase deficiency in a family with an intermediate form of Niemann-Pick disease.

PMID 28600779 2017 The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

PMID 12369017 2002 The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations.

PMID 17876723 2007 Acid sphingomyelinase-deficient Niemann-Pick disease: novel findings in a Greek child.

PMID 12607113 2003 Compound heterozygosity at the sphingomyelin phosphodiesterase-1 (SMPD1) gene is associated with low HDL cholesterol.

PMID 22796693 2012 Infant with type A Niemann Pick disease and undetectable Niemann Pick cells in bone marrow.

PMID 8680412 1995 Two new mutations in the acid sphingomyelinase gene causing type a Niemann-pick disease: N389T and R441X.

PMID 23412609 2013 Morbidity and mortality in type B Niemann-Pick disease.

PMID 15241805 2004 Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon.

PMID 23430949 2012 Newborn screening for lysosomal storage disorders in hungary.

PMID 23356216 2013 Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease.

PMID 16642440 2006 Imprinting at the SMPD1 locus: implications for acid sphingomyelinase-deficient Niemann-Pick disease.

PMID 26913189 2015 Case Report: Genetic analysis and anesthetic management of a child with Niemann-Pick disease Type A.

PMID 27238910 2016 Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry.

PMID 18625664 2008 A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B.

PMID 16010684 2005 Functional in vitro characterization of 14 SMPD1 mutations identified in Italian patients affected by Niemann Pick Type B disease.

PMID 8664904 1996 Identification of three novel mutations in the acid sphinogomyelinase gene of Japanese patients with Niemann-Pick disease type A and B.

PMID 15612058 2004 Preimplantation genetic diagnosis for Niemann-Pick disease type B.

PMID 15234149 2004 Ocular manifestations of Niemann-Pick disease type B.

PMID 12712061 2003 Growth restriction in children with type B Niemann-Pick disease.

PMID 21098024 2011 A novel mechanism of lysosomal acid sphingomyelinase maturation: requirement for carboxyl-terminal proteolytic processing.

PMID 15545621 2004 The natural history of type B Niemann-Pick disease: results from a 10-year longitudinal study.

PMID 1840600 1991 Human acid sphingomyelinase. Isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAs.

PMID 8499909 1993 Identification of a 3' acceptor splice site mutation (g2610c) in the acid sphingomyelinase gene of patients with Niemann-Pick disease.

PMID 23188845 2012 R542X mutation in SMPD1 gene: genetically novel mutation with phenotypic features intermediate between type A and type B Niemann-Pick disease.

PMID 24767253 2014 Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.

PMID 27725636 2016 Human acid sphingomyelinase structures provide insight to molecular basis of Niemann-Pick disease.

PMID 8407868 1993 Cloning of a human acid sphingomyelinase cDNA with a new mutation that renders the enzyme inactive.

PMID 16434659 2006 Natural history of Type A Niemann-Pick disease: possible endpoints for therapeutic trials.

PMID 10694919 1998 Niemann Pick Disease type A in Israeli Arabs: 677delT, a common novel single mutation. Mutations in brief no. 161. Online.

PMID 8053910 1994 Occurrence of two molecular forms of human acid sphingomyelinase.

PMID 16151905 2005 A new fluorimetric enzyme assay for the diagnosis of Niemann-Pick A/B, with specificity of natural sphingomyelinase substrate.

PMID 26084044 2015 Alleged Detrimental Mutations in the SMPD1 Gene in Patients with Niemann-Pick Disease.

PMID 23430512 2013 The Acid Sphingomyelinase Sequence Variant p.A487V Is Not Associated With Decreased Levels of Enzymatic Activity.

PMID 25834946 2016 Novel first-dose adverse drug reactions during a phase I trial of olipudase alfa (recombinant human acid sphingomyelinase) in adults with Niemann-Pick disease type B (acid sphingomyelinase deficiency).

PMID 26851525 2016 Seven novel mutations of the SMPD1 gene in four Chinese patients with Niemann-Pick disease type A and prenatal diagnosis for four fetuses.

PMID 16264060 2005 A 3-year-old child with abdominal pain and fever.

rs1057517195 in SMPD1 gene and Niemann-Pick Disease, Type B PMID 15877209 2005 Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study.

PMID 16642440 2006 Imprinting at the SMPD1 locus: implications for acid sphingomyelinase-deficient Niemann-Pick disease.

PMID 21454466 2011 Is active acid sphingomyelinase required for the antiproliferative response to rituximab?

PMID 17011332 2006 Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease.

PMID 1391960 1992 Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients.

PMID 2023926 1991 Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients.

PMID 1885770 1991 These results indicate that the delta R608 mutation predicts the Type B Niemann-Pick disease phenotype, even in the presence of the R496L Type A allele, thereby providing the first genotype/phenotype correlation for this lysosomal storage disease.

PMID 18815062 2008 Characterization of common SMPD1 mutations causing types A and B Niemann-Pick disease and generation of mutation-specific mouse models.

PMID 21502868 2011 Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals.

PMID 8225311 1993 Deletion of arginine (608) in acid sphingomyelinase is the prevalent mutation among Niemann-Pick disease type B patients from northern Africa.

PMID 19405096 2009 Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients.

PMID 12694237 2003 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.

PMID 1885770 1991 Niemann-Pick type B disease. Identification of a single codon deletion in the acid sphingomyelinase gene and genotype/phenotype correlations in type A and B patients.

PMID 8664904 1996 Identification of three novel mutations in the acid sphinogomyelinase gene of Japanese patients with Niemann-Pick disease type A and B.

PMID 27659707 2016 Structural and functional analysis of the ASM p.Ala359Asp mutant that causes acid sphingomyelinase deficiency.

PMID 8051942 1994 A family with visceral course of Niemann-Pick disease, macular halo syndrome and low sphingomyelin degradation rate.

PMID 12369017 2002 The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations.

PMID 27338287 2016 Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease.

PMID 1618760 1992 Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B Niemann-Pick disease. Molecular evidence for genetic heterogeneity in the neuronopathic and non-neuronopathic forms.

PMID 16010684 2005 Functional in vitro characterization of 14 SMPD1 mutations identified in Italian patients affected by Niemann Pick Type B disease.

PMID 23430512 2013 The Acid Sphingomyelinase Sequence Variant p.A487V Is Not Associated With Decreased Levels of Enzymatic Activity.

PMID 20386867 2010 Identification and characterization of eight novel SMPD1 mutations causing types A and B Niemann-Pick disease.

PMID 22613662 2012 A novel SMPD1 mutation in two Chinese sibling patients with type B Niemann-Pick disease.

PMID 21621718 2011 PAS-positive macrophages--not always infection.

PMID 16472269 2006 Clinical findings in Niemann-Pick disease type B.

PMID 26499107 2016 SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants.

PMID 1301192 1992 Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann-Pick disease.

PMID 19050888 2009 A novel missense mutation of the SMPD1 gene in a Taiwanese patient with type B Niemann-Pick disease.

PMID 25920558 2016 Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B.

PMID 22818240 2012 Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients.

PMID 26981555 2016 Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening.

PMID 17876723 2007 Acid sphingomyelinase-deficient Niemann-Pick disease: novel findings in a Greek child.

PMID 12369017 2002 In particular, the L137P, A196P, and R474W mutations were consistent with a less severe form of type B NPD, whereas the H421Y and K576N mutations led to an early-onset, more severe form that was specific to Saudi Arabia.

PMID 28600779 2017 The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

PMID 22796693 2012 Infant with type A Niemann Pick disease and undetectable Niemann Pick cells in bone marrow.

PMID 12607113 2003 Compound heterozygosity at the sphingomyelin phosphodiesterase-1 (SMPD1) gene is associated with low HDL cholesterol.

PMID 8680412 1995 Two new mutations in the acid sphingomyelinase gene causing type a Niemann-pick disease: N389T and R441X.

PMID 9266408 1997 Two novel mutations in patients with atypical phenotypes of acid sphingomyelinase deficiency.

PMID 15241805 2004 Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon.

PMID 12369017 2002 In particular, the L137P, A196P, and R474W mutations were consistent with a less severe form of type B NPD, whereas the H421Y and K576N mutations led to an early-onset, more severe form that was specific to Saudi Arabia.

PMID 12712061 2003 Growth restriction in children with type B Niemann-Pick disease.

PMID 15234149 2004 Ocular manifestations of Niemann-Pick disease type B.

PMID 23252888 2013 Identification of seven novel SMPD1 mutations causing Niemann-Pick disease types A and B.

PMID 1301192 1992 Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann-Pick disease.

PMID 8401540 1993 Type A Niemann-Pick disease: a frameshift mutation in the acid sphingomyelinase gene (fsP330) occurs in Ashkenazi Jewish patients.

PMID 23188845 2012 R542X mutation in SMPD1 gene: genetically novel mutation with phenotypic features intermediate between type A and type B Niemann-Pick disease.

PMID 15221801 2004 Screening of 25 Italian patients with Niemann-Pick A reveals fourteen new mutations, one common and thirteen private, in SMPD1.

PMID 24767253 2014 Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.

PMID 26913189 2015 Case Report: Genetic analysis and anesthetic management of a child with Niemann-Pick disease Type A.

PMID 10694919 1998 Niemann Pick Disease type A in Israeli Arabs: 677delT, a common novel single mutation. Mutations in brief no. 161. Online.

PMID 12369017 2002 In particular, the L137P, A196P, and R474W mutations were consistent with a less severe form of type B NPD, whereas the H421Y and K576N mutations led to an early-onset, more severe form that was specific to Saudi Arabia.

PMID 12556236 2003 Seven novel acid sphingomyelinase gene mutations in Niemann-Pick type A and B patients.

PMID 15545621 2004 The natural history of type B Niemann-Pick disease: results from a 10-year longitudinal study.

PMID 26084044 2015 Alleged Detrimental Mutations in the SMPD1 Gene in Patients with Niemann-Pick Disease.

PMID 23356216 2013 Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease.

rs120074118 in SMPD1 gene and Niemann-Pick Diseases PMID 15545621 2004 The natural history of type B Niemann-Pick disease: results from a 10-year longitudinal study.

PMID 12694237 2003 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.

PMID 12369017 2002 The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations.

PMID 14681755 2003 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.

PMID 15877209 2005 Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study.

PMID 17011332 2006 Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease.

PMID 25920558 2016 Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B.