MCID: ACD003
MIFTS: 33

Acid Sphingomyelinase Deficiency malady

Category: Genetic diseases (common)

Aliases & Classifications for Acid Sphingomyelinase Deficiency

About this section

Aliases & Descriptions for Acid Sphingomyelinase Deficiency:

Name: Acid Sphingomyelinase Deficiency 23 24
Niemann-Pick Disease, Type a 67
 
Niemann-Pick Diseases 67

Classifications:



Summaries for Acid Sphingomyelinase Deficiency

About this section
Wikipedia:70 Acid sphingomyelinase is one of the enzymes that make up the sphingomyelinase (SMase) family,... more...

MalaCards based summary: Acid Sphingomyelinase Deficiency, also known as niemann-pick disease, type a, is related to pick disease and niemann-pick disease, and has symptoms including constipation, hepatomegaly and vomiting. An important gene associated with Acid Sphingomyelinase Deficiency is SMPD1 (Sphingomyelin Phosphodiesterase 1), and among its related pathways are DREAM Repression and Dynorphin Expression and TNF signaling (REACTOME). Affiliated tissues include liver, brain and lung, and related mouse phenotypes are liver/biliary system and reproductive system.

GeneReviews for NBK1370

Related Diseases for Acid Sphingomyelinase Deficiency

About this section

Graphical network of diseases related to Acid Sphingomyelinase Deficiency:



Diseases related to acid sphingomyelinase deficiency

Symptoms for Acid Sphingomyelinase Deficiency

About this section

UMLS symptoms related to Acid Sphingomyelinase Deficiency:


constipation, hepatomegaly, vomiting, muscle weakness

Drugs & Therapeutics for Acid Sphingomyelinase Deficiency

About this section

Drugs for Acid Sphingomyelinase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Pharmaceutical SolutionsPhase 2, Phase 3, Phase 17793
2Liver ExtractsPhase 2, Phase 33868
3
AcetylcysteineapprovedPhase 1, Phase 2316616-91-112035
Synonyms:
(2R)-2-acetylamino-3-Sulfanylpropanoic acid
(R)-2-acetylamino-3-Mercaptopropanoic acid
(R)-Mercapturic acid
2-Acetylamino-3-mercapto-propionate
2-Acetylamino-3-mercapto-propionic acid
ACC
Acetadote
Acetilcisteina
Acetylcysteine
Acetylcysteinum
Fluimicil Infantil
Fluimucetin
Fluimucil
Flumucetin
 
Fluprowit
L-Acetylcysteine
L-alpha-acetamido-beta-Mercaptopropionic acid
Lysox
Mercapturic acid
Mucolysin
Mucomyst
N-ACETYL-L-cysteine
N-Acety-L-Cysteine
N-Acetyl-3-mercaptoalanine
N-Acetyl-L-(+)-cysteine
N-Acetylcysteine
N-acetylcysteine
NAC
Parvolex
Sodium 2-acetamido-3-mercaptopropionate
4N-monoacetylcystinePhase 1, Phase 2316
5Respiratory System AgentsPhase 1, Phase 24818
6ExpectorantsPhase 1, Phase 2388
7Protective AgentsPhase 1, Phase 27190
8AntioxidantsPhase 1, Phase 22928
9AntidotesPhase 1, Phase 21038
10Anti-Infective AgentsPhase 1, Phase 221402
11Antiviral AgentsPhase 1, Phase 29732
12cysteineNutraceuticalPhase 1, Phase 2190

Interventional clinical trials:

idNameStatusNCT IDPhase
1Efficacy, Safety, Pharmacodynamic, and Pharmacokinetics Study of Olipudase Alfa in Patients With Acid Sphingomyelinase DeficiencyRecruitingNCT02004691Phase 2, Phase 3
2SurVival of Lysosomal Acid Lipase Deficiency (LAL-D) Infants Treated With SebelipAse aLfaActive, not recruitingNCT01371825Phase 2, Phase 3
3Children With Lysosomal Acid Lipase Deficiency Who Previously Received Treatment With SBC-102TerminatedNCT01473875Phase 2, Phase 3
4Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl CysteineCompletedNCT00975689Phase 1, Phase 2
5A Long-Term Study of Olipudase Alfa in Patients With Acid Sphingomyelinase DeficiencyRecruitingNCT02004704Phase 2
6Safety, Tolerability, PK, and Efficacy Evaluation of Repeat Ascending Doses of Olipudase Alfa in Pediatric Patients <18 Years of Age With Acid Sphingomyelinase DeficiencyRecruitingNCT02292654Phase 1, Phase 2
7Clinical Trial in Infants With Rapidly Progressive Lysosomal Acid Lipase DeficiencyActive, not recruitingNCT02193867Phase 2
8Tolerability and Safety Study of Recombinant Human Acid Sphingomyelinase in Acid Sphingomyelinase Deficiency PatientsCompletedNCT01722526Phase 1
9Safety Study of rhASM Enzyme Replacement Therapy in Adults With Acid Sphingomyelinase Deficiency (Niemann-Pick Disease)TerminatedNCT00410566Phase 1
10PET Scan of Brain Metabolism in Relation to Age and DiseaseCompletedNCT00001972

Search NIH Clinical Center for Acid Sphingomyelinase Deficiency

Genetic Tests for Acid Sphingomyelinase Deficiency

About this section

Genetic tests related to Acid Sphingomyelinase Deficiency:

id Genetic test Affiliating Genes
1 Acid Sphingomyelinase Deficiency24 SMPD1

Anatomical Context for Acid Sphingomyelinase Deficiency

About this section

MalaCards organs/tissues related to Acid Sphingomyelinase Deficiency:

35
Liver, Brain, Lung, Skin, Bone, Bone marrow

Animal Models for Acid Sphingomyelinase Deficiency or affiliated genes

About this section

MGI Mouse Phenotypes related to Acid Sphingomyelinase Deficiency:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.3FAS, NPC1, SMPD1
2MP:00053899.2FAS, NPC1, SMPD1
3MP:00053888.5FAS, NPC1, SMPD1

Publications for Acid Sphingomyelinase Deficiency

About this section

Articles related to Acid Sphingomyelinase Deficiency:

(show all 48)
idTitleAuthorsYear
1
Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases. (27198631)
2016
2
Structural and functional analysis of the ASM p.Ala359Asp mutant that causes acid sphingomyelinase deficiency. (27659707)
2016
3
Clearance of Hepatic Sphingomyelin by Olipudase Alfa Is Associated With Improvement in Lipid Profiles in Acid Sphingomyelinase Deficiency. (27340749)
2016
4
Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency. (26049896)
2015
5
Reliable Assay of Acid Sphingomyelinase Deficiency with the Mutation Q292K by Tandem Mass Spectrometry. (25770139)
2015
6
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). (25834946)
2015
7
Nonclinical safety assessment of recombinant human acid sphingomyelinase (rhASM) for the treatment of acid sphingomyelinase deficiency: The utility of animal models of disease in the toxicological evaluation of potential therapeutics. (25092414)
2014
8
Cirrhosis and Liver Failure: Expanding Phenotype of Acid Sphingomyelinase-Deficient Niemann-Pick Disease in Adulthood. (24718843)
2014
9
Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease. (23356216)
2013
10
Liver and skin histopathology in adults with acid sphingomyelinase deficiency (Niemann-Pick disease type B). (22613999)
2012
11
Acid sphingomyelinase deficiency contributes to resistance of scleroderma fibroblasts to Fas-mediated apoptosis. (22771321)
2012
12
Optimization of a histopathological biomarker for sphingomyelin accumulation in acid sphingomyelinase deficiency. (22614361)
2012
13
Acid sphingomyelinase deficiency attenuates bleomycin-induced lung inflammation and fibrosis in mice. (21063112)
2010
14
Acid sphingomyelinase deficiency does not protect from graft-versus-host disease in transplant recipients with Niemann-Pick disease. (20075175)
2010
15
Acid Sphingomyelinase Deficiency Prevents Diet-induced Hepatic Triacylglycerol Accumulation and Hyperglycemia in Mice. (19074137)
2009
16
The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. (20040312)
2009
17
Alterations of myelin-specific proteins and sphingolipids characterize the brains of acid sphingomyelinase-deficient mice, an animal model of Niemann-Pick disease type A. (19187445)
2009
18
Acid sphingomyelinase deficiency protects from cisplatin-induced gastrointestinal damage. (18679423)
2008
19
The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. (17632693)
2007
20
Acid sphingomyelinase-deficient Niemann-Pick disease: novel findings in a Greek child. (17876723)
2007
21
Acid sphingomyelinase deficiency increases susceptibility to fatal alphavirus encephalomyelitis. (16943298)
2006
22
Niemann-Pick type C disease: novel NPC1 mutations and characterization of the concomitant acid sphingomyelinase deficiency. (16143556)
2006
23
Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease. (17011332)
2006
24
Imprinting at the SMPD1 locus: implications for acid sphingomyelinase-deficient Niemann-Pick disease. (16642440)
2006
25
Acid sphingomyelinase deficiency: cardiac dysfunction and characteristic findings of the coronary arteries. (16601902)
2006
26
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
27
Effects of acid sphingomyelinase deficiency on male germ cell development and programmed cell death. (15371271)
2005
28
Mannose 6-phosphate receptor-mediated uptake is defective in acid sphingomyelinase-deficient macrophages: implications for Niemann-Pick disease enzyme replacement therapy. (14557264)
2004
29
Alveolar lipoproteinosis in an acid sphingomyelinase-deficient mouse model of Niemann-Pick disease. (12495943)
2003
30
Reproductive pathology and sperm physiology in acid sphingomyelinase-deficient mice. (12213735)
2002
31
Intracerebral transplantation of mesenchymal stem cells into acid sphingomyelinase-deficient mice delays the onset of neurological abnormalities and extends their life span. (11994407)
2002
32
Apoptosis and signalling in acid sphingomyelinase deficient cells. (11722792)
2001
33
Niemann-Pick Disease versus acid sphingomyelinase deficiency. (11313707)
2001
34
Analysis of the lung pathology and alveolar macrophage function in the acid sphingomyelinase--deficient mouse model of Niemann-Pick disease. (11454988)
2001
35
Acid sphingomyelinase deficiency in Beckwith Wiedemann syndrome. (11173664)
2000
36
Hematopoietic stem cell gene therapy leads to marked visceral organ improvements and a delayed onset of neurological abnormalities in the acid sphingomyelinase deficient mouse model of Niemann-Pick disease. (11083499)
2000
37
MRI in an unusually protracted neuronopathic variant of acid sphingomyelinase deficiency. (10206162)
1999
38
Fluorescence-based selection of gene-corrected hematopoietic stem and progenitor cells from acid sphingomyelinase-deficient mice: implications for Niemann-Pick disease gene therapy and the development of improved stem cell gene transfer procedures. (9864149)
1999
39
Niemann-Pick disease [type A and B] (acid sphingomyelinase deficiencies)]. (9645083)
1998
40
Two novel mutations in patients with atypical phenotypes of acid sphingomyelinase deficiency. (9266408)
1997
41
Pathology of visceral organs and bone marrow in an acid sphingomyelinase deficient knock-out mouse line, mimicking human Niemann-Pick disease type A. A light and electron microscopic study. (9505258)
1997
42
Acid sphingomyelinase-deficient human lymphoblasts and mice are defective in radiation-induced apoptosis. (8706124)
1996
43
Acid sphingomyelinase-deficient mice mimic the neurovisceral form of human lysosomal storage disease (Niemann-Pick disease). (7600574)
1995
44
Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick disease. (7670466)
1995
45
Molecular analysis of the acid sphingomyelinase deficiency in a family with an intermediate form of Niemann-Pick disease. (7762557)
1995
46
Acid Sphingomyelinase Deficiency (20301544)
1993
47
Molecular basis of acid sphingomyelinase deficiency in a patient with Niemann-Pick disease type A. (1718266)
1991
48
An animal model of human acid sphingomyelinase deficiency (Niemann-Pick disease) and the study of its enzyme replacement (the Japan Society of Human Genetics award lecture). (2830422)
1987

Variations for Acid Sphingomyelinase Deficiency

About this section

Clinvar genetic disease variations for Acid Sphingomyelinase Deficiency:

5 (show all 24)
id Gene Variation Type Significance SNP ID Assembly Location
1SMPD1NM_000543.4(SMPD1): c.739G> A (p.Gly247Ser)SNVLikely pathogenic, Pathogenicrs587779408GRCh37Chr 11, 6413034: 6413034
2SMPD1NM_000543.4(SMPD1): c.475T> C (p.Cys159Arg)SNVPathogenicrs727504166GRCh37Chr 11, 6412770: 6412770
3SMPD1NM_000543.4(SMPD1): c.558_559insT (p.Pro187Serfs)insertionPathogenicrs756366019GRCh37Chr 11, 6412853: 6412854
4SMPD1NM_000543.4(SMPD1): c.1426C> T (p.Arg476Trp)SNV, CompoundHeterozygoteLikely pathogenic, Pathogenicrs182812968GRCh37Chr 11, 6415211: 6415211
5SMPD1NM_001007593.2(SMPD1): c.792delG (p.Leu265Trpfs)deletionPathogenicrs875989832GRCh38Chr 11, 6391860: 6391860
6SMPD1NM_001007593.2(SMPD1): c.518_519insT (p.Ser174Ilefs)insertionPathogenicrs875989833GRCh37Chr 11, 6412816: 6412817
7SMPD1NM_001007593.2(SMPD1): c.1488_1500delCCGTGTGTACCAA (p.Tyr496Terfs)deletionPathogenicrs875989834GRCh38Chr 11, 6394202: 6394214
8SMPD1NM_001007593.2(SMPD1): c.562_563insC (p.Lys188Thrfs)insertionPathogenicrs875989835GRCh37Chr 11, 6412860: 6412861
9SMPD1NM_001007593.2(SMPD1): c.1670T> C (p.Leu557Pro)SNVPathogenicrs875989836GRCh38Chr 11, 6394384: 6394384
10SMPD1NM_001007593.2(SMPD1): c.949G> A (p.Val317Met)SNVPathogenicrs875989837GRCh38Chr 11, 6392017: 6392017
11SMPD1NM_001007593.2(SMPD1): c.1495T> A (p.Tyr499Asn)SNVPathogenicrs771336819GRCh38Chr 11, 6394209: 6394209
12SMPD1NM_000543.4(SMPD1): c.114delG (p.Leu39Trpfs)deletionLikely pathogenic, Pathogenicrs886043098GRCh37Chr 11, 6411942: 6411942
13SMPD1NM_000543.4(SMPD1): c.1493G> T (p.Arg498Leu)SNVPathogenicrs120074117GRCh37Chr 11, 6415434: 6415434
14SMPD1NM_000543.4(SMPD1): c.1735G> A (p.Gly579Ser)SNVPathogenicrs120074119GRCh37Chr 11, 6415676: 6415676
15SMPD1NM_000543.4(SMPD1): c.788T> A (p.Leu263Ter)SNVPathogenicrs120074120GRCh37Chr 11, 6413083: 6413083
16SMPD1SMPD1, 2-BP DEL, LEU178FSdeletionPathogenicChr na, -1: -1
17SMPD1NM_000543.4(SMPD1): c.1152G> A (p.Met384Ile)SNVPathogenicrs120074121GRCh37Chr 11, 6414506: 6414506
18SMPD1NM_000543.4(SMPD1): c.911T> C (p.Leu304Pro)SNVPathogenicrs120074124GRCh37Chr 11, 6413206: 6413206
19SMPD1NM_000543.4(SMPD1): c.996delC (p.Phe333Serfs)deletionPathogenicrs387906289GRCh37Chr 11, 6413291: 6413291
20SMPD1NM_000543.4(SMPD1): c.1327C> T (p.Arg443Ter)SNVPathogenicrs120074127GRCh37Chr 11, 6414910: 6414910
21SMPD1NM_000543.4(SMPD1): c.880C> A (p.Gln294Lys)SNVPathogenicrs120074128GRCh37Chr 11, 6413175: 6413175
22SMPD1NM_000543.4(SMPD1): c.1451C> A (p.Ala484Glu)SNVPathogenicrs267607075GRCh37Chr 11, 6415236: 6415236
23SMPD1NM_000543.4(SMPD1): c.1406A> C (p.Tyr469Ser)SNVPathogenicrs267607074GRCh37Chr 11, 6415191: 6415191
24SMPD1NM_000543.4(SMPD1): c.757G> C (p.Asp253His)SNVPathogenicrs398123479GRCh37Chr 11, 6413052: 6413052

Expression for genes affiliated with Acid Sphingomyelinase Deficiency

About this section
Search GEO for disease gene expression data for Acid Sphingomyelinase Deficiency.

Pathways for genes affiliated with Acid Sphingomyelinase Deficiency

About this section

GO Terms for genes affiliated with Acid Sphingomyelinase Deficiency

About this section

Cellular components related to Acid Sphingomyelinase Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1membrane raftGO:00451219.1FAS, NPC1
2lysosomeGO:00057648.9NPC1, SMPD1
3endosomeGO:00057688.7NPC1, SMPD1

Biological processes related to Acid Sphingomyelinase Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of apoptotic processGO:00430659.6FAS, SMPD1
2signal transductionGO:00071658.5FAS, NPC1, SMPD1
3response to drugGO:00424938.2FAS, NPC1, SMPD1

Molecular functions related to Acid Sphingomyelinase Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1receptor activityGO:00048729.1FAS, NPC1

Sources for Acid Sphingomyelinase Deficiency

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet