MCID: ACD003
MIFTS: 29

Acid Sphingomyelinase Deficiency malady

Genetic diseases (common) category

Aliases & Classifications for Acid Sphingomyelinase Deficiency

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Aliases & Descriptions for Acid Sphingomyelinase Deficiency:

Name: Acid Sphingomyelinase Deficiency 21 22
Niemann-Pick Disease, Type a 65
 
Sphingomyelinase Deficiency 65
Niemann-Pick Diseases 65


Classifications:



Summaries for Acid Sphingomyelinase Deficiency

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

GeneReviews summary for npab

Related Diseases for Acid Sphingomyelinase Deficiency

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Diseases related to Acid Sphingomyelinase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 64)
idRelated DiseaseScoreTop Affiliating Genes
1pick disease10.9
2niemann-pick disease10.9
3niemann-pick disease, type a10.7
4lysosomal storage disease10.6
5dementia, frontotemporal10.5
6niemann-pick disease, type c110.5
7frontotemporal lobar degeneration with ubiquitin-positive inclusions10.5
8cerebral lipidosis10.5
9metabolic syndrome x10.5
10histiocytosis10.5
11lipid metabolism disorder10.5
12lipid storage disease10.5
13lymphatic system disease10.5
14non-langerhans-cell histiocytosis10.5
15nutritional deficiency disease10.5
16prion disease10.5
17sphingolipidosis10.5
18genetic brain disorders10.5
19grn-related frontotemporal dementia10.5
20semantic dementia10.5
21frontotemporal dementia with parkinsonism-1710.5
22encephalopathy10.5
23niemann-pick disease, type b10.3
24splenic disease10.3
25t cell deficiency10.3
26coronary heart disease 510.2
27beckwith-wiedemann syndrome10.2
28mucolipidosis ii alpha/beta10.2
29speech and communication disorders10.2
30hepatitis10.2
31skin disease10.2
32spondylosis10.2
33subacute delirium10.2
34pain disorder10.2
35cork-handlers' disease10.2
36adrenal gland disease10.2
37amnestic disorder10.2
38aphasia10.2
39blood platelet disease10.2
40central nervous system disease10.2
41cerebral degeneration10.2
42dementia10.2
43exanthem10.2
44hyperglycemia10.2
45nervous system disease10.2
46physical disorder10.2
47scleroderma10.2
48skin tag10.2
49speech disorder10.2
50degenerative nerve diseases10.2

Graphical network of the top 20 diseases related to Acid Sphingomyelinase Deficiency:



Diseases related to acid sphingomyelinase deficiency

Symptoms for Acid Sphingomyelinase Deficiency

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Drugs & Therapeutics for Acid Sphingomyelinase Deficiency

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
AcetylcysteineapprovedPhase 1, Phase 2280616-91-112035
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
Acetadote
Acetilcisteina
Acetylcysteine
Acetylcysteinum
Fluimicil Infantil
Fluimucetin
 
Flumucetin
Fluprowit
L-Acetylcysteine
L-alpha-acetamido-beta-Mercaptopropionic acid
Mercapturic acid
N-ACETYL-L-cysteine
N-Acety-L-Cysteine
N-Acetyl-3-mercaptoalanine
N-Acetyl-L-(+)-cysteine
N-Acetylcysteine
N-acetylcysteine
Sodium 2-acetamido-3-mercaptopropionate
2ExpectorantsPhase 1, Phase 2320
3N-monoacetylcystinePhase 1, Phase 2280
4cysteineNutraceuticalPhase 1, Phase 2143

Interventional clinical trials:

idNameStatusNCT IDPhase
1Efficacy, Safety, Pharmacodynamic, and Pharmacokinetics Study of Olipudase Alfa in Patients With Acid Sphingomyelinase DeficiencyRecruitingNCT02004691Phase 2, Phase 3
2Trial in Children With Growth Failure Due to Early Onset Lysosomal Acid Lipase (LAL) Deficiency/Wolman DiseaseActive, 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 Recombinant Human Acid Sphingomyelinase 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 DeficiencyRecruitingNCT02193867Phase 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

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Genetic tests related to Acid Sphingomyelinase Deficiency:

id Genetic test Affiliating Genes
1 Acid Sphingomyelinase Deficiency22 SMPD1

Anatomical Context for Acid Sphingomyelinase Deficiency

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MalaCards organs/tissues related to Acid Sphingomyelinase Deficiency:

33
Bone, Brain, Lung, Liver, Skin, Bone marrow

Animal Models for Acid Sphingomyelinase Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Acid Sphingomyelinase Deficiency:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.6FAS, NPC1, SMPD1
2MP:00053898.5FAS, NPC1, SMPD1
3MP:00053888.2FAS, NPC1, SMPD1

Publications for Acid Sphingomyelinase Deficiency

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Articles related to Acid Sphingomyelinase Deficiency:

(show all 44)
idTitleAuthorsYear
1
Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency. (26049896)
2015
2
Reliable Assay of Acid Sphingomyelinase Deficiency with the Mutation Q292K by Tandem Mass Spectrometry. (25770139)
2015
3
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
4
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
5
Cirrhosis and Liver Failure: Expanding Phenotype of Acid Sphingomyelinase-Deficient Niemann-Pick Disease in Adulthood. (24718843)
2014
6
Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease. (23356216)
2013
7
Liver and skin histopathology in adults with acid sphingomyelinase deficiency (Niemann-Pick disease type B). (22613999)
2012
8
Optimization of a histopathological biomarker for sphingomyelin accumulation in acid sphingomyelinase deficiency. (22614361)
2012
9
Acid sphingomyelinase deficiency contributes to resistance of scleroderma fibroblasts to Fas-mediated apoptosis. (22771321)
2012
10
Acid sphingomyelinase deficiency attenuates bleomycin-induced lung inflammation and fibrosis in mice. (21063112)
2010
11
Acid sphingomyelinase deficiency does not protect from graft-versus-host disease in transplant recipients with Niemann-Pick disease. (20075175)
2010
12
Acid Sphingomyelinase Deficiency Prevents Diet-induced Hepatic Triacylglycerol Accumulation and Hyperglycemia in Mice. (19074137)
2009
13
The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. (20040312)
2009
14
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
15
Acid sphingomyelinase deficiency protects from cisplatin-induced gastrointestinal damage. (18679423)
2008
16
Acid sphingomyelinase-deficient Niemann-Pick disease: novel findings in a Greek child. (17876723)
2007
17
The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. (17632693)
2007
18
Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease. (17011332)
2006
19
Acid sphingomyelinase deficiency: cardiac dysfunction and characteristic findings of the coronary arteries. (16601902)
2006
20
Acid sphingomyelinase deficiency increases susceptibility to fatal alphavirus encephalomyelitis. (16943298)
2006
21
Niemann-Pick type C disease: novel NPC1 mutations and characterization of the concomitant acid sphingomyelinase deficiency. (16143556)
2006
22
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
23
Effects of acid sphingomyelinase deficiency on male germ cell development and programmed cell death. (15371271)
2005
24
Mannose 6-phosphate receptor-mediated uptake is defective in acid sphingomyelinase-deficient macrophages: implications for Niemann-Pick disease enzyme replacement therapy. (14557264)
2004
25
Alveolar lipoproteinosis in an acid sphingomyelinase-deficient mouse model of Niemann-Pick disease. (12495943)
2003
26
Intracerebral transplantation of mesenchymal stem cells into acid sphingomyelinase-deficient mice delays the onset of neurological abnormalities and extends their life span. (11994407)
2002
27
Reproductive pathology and sperm physiology in acid sphingomyelinase-deficient mice. (12213735)
2002
28
Apoptosis and signalling in acid sphingomyelinase deficient cells. (11722792)
2001
29
Niemann-Pick Disease versus acid sphingomyelinase deficiency. (11313707)
2001
30
Analysis of the lung pathology and alveolar macrophage function in the acid sphingomyelinase--deficient mouse model of Niemann-Pick disease. (11454988)
2001
31
Acid sphingomyelinase deficiency in Beckwith Wiedemann syndrome. (11173664)
2000
32
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
33
MRI in an unusually protracted neuronopathic variant of acid sphingomyelinase deficiency. (10206162)
1999
34
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
35
Niemann-Pick disease [type A and B] (acid sphingomyelinase deficiencies)]. (9645083)
1998
36
Two novel mutations in patients with atypical phenotypes of acid sphingomyelinase deficiency. (9266408)
1997
37
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
38
Acid sphingomyelinase-deficient human lymphoblasts and mice are defective in radiation-induced apoptosis. (8706124)
1996
39
Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick disease. (7670466)
1995
40
Molecular analysis of the acid sphingomyelinase deficiency in a family with an intermediate form of Niemann-Pick disease. (7762557)
1995
41
Acid sphingomyelinase-deficient mice mimic the neurovisceral form of human lysosomal storage disease (Niemann-Pick disease). (7600574)
1995
42
Acid Sphingomyelinase Deficiency (20301544)
1993
43
Molecular basis of acid sphingomyelinase deficiency in a patient with Niemann-Pick disease type A. (1718266)
1991
44
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

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Clinvar genetic disease variations for Acid Sphingomyelinase Deficiency:

5 (show all 16)
id Gene Variation Type Significance SNP ID Assembly Location
1SMPD1NM_000543.4(SMPD1): c.739G> A (p.Gly247Ser)single nucleotide variantLikely pathogenic, Pathogenicrs587779408GRCh37Chr 11, 6413034: 6413034
2SMPD1NM_000543.4(SMPD1): c.475T> C (p.Cys159Arg)single nucleotide variantPathogenicrs727504166GRCh38Chr 11, 6391540: 6391540
3SMPD1NM_000543.4(SMPD1): c.558_559insT (p.Pro187Serfs)insertionPathogenicrs756366019GRCh37Chr 11, 6412853: 6412854
4SMPD1NM_000543.4(SMPD1): c.1493G> T (p.Arg498Leu)single nucleotide variantPathogenicrs120074117GRCh37Chr 11, 6415434: 6415434
5SMPD1NM_000543.4(SMPD1): c.1735G> A (p.Gly579Ser)single nucleotide variantPathogenicrs120074119GRCh37Chr 11, 6415676: 6415676
6SMPD1NM_000543.4(SMPD1): c.788T> A (p.Leu263Ter)single nucleotide variantPathogenicrs120074120GRCh37Chr 11, 6413083: 6413083
7SMPD1SMPD1, 2-BP DEL, LEU178FSdeletionPathogenic
8SMPD1NM_000543.4(SMPD1): c.1152G> A (p.Met384Ile)single nucleotide variantPathogenicrs120074121GRCh37Chr 11, 6414506: 6414506
9SMPD1NM_000543.4(SMPD1): c.911T> C (p.Leu304Pro)single nucleotide variantPathogenicrs120074124GRCh37Chr 11, 6413206: 6413206
10SMPD1NM_000543.4(SMPD1): c.996delC (p.Phe333Serfs)deletionPathogenicrs387906289GRCh37Chr 11, 6413291: 6413291
11SMPD1NM_000543.4(SMPD1): c.1327C> T (p.Arg443Ter)single nucleotide variantPathogenicrs120074127GRCh37Chr 11, 6414910: 6414910
12SMPD1NM_000543.4(SMPD1): c.880C> A (p.Gln294Lys)single nucleotide variantPathogenicrs120074128GRCh37Chr 11, 6413175: 6413175
13SMPD1NM_000543.4(SMPD1): c.1451C> A (p.Ala484Glu)single nucleotide variantPathogenicrs267607075GRCh37Chr 11, 6415236: 6415236
14SMPD1NM_000543.4(SMPD1): c.1406A> C (p.Tyr469Ser)single nucleotide variantPathogenicrs267607074GRCh37Chr 11, 6415191: 6415191
15SMPD1NM_000543.4(SMPD1): c.1426C> T (p.Arg476Trp)single nucleotide variantLikely pathogenic, Pathogenicrs182812968GRCh37Chr 11, 6415211: 6415211
16SMPD1NM_000543.4(SMPD1): c.757G> C (p.Asp253His)single nucleotide variantPathogenicrs398123479GRCh37Chr 11, 6413052: 6413052

Expression for genes affiliated with Acid Sphingomyelinase Deficiency

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Search GEO for disease gene expression data for Acid Sphingomyelinase Deficiency.

Pathways for genes affiliated with Acid Sphingomyelinase Deficiency

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GO Terms for genes affiliated with Acid Sphingomyelinase Deficiency

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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
2response to drugGO:00424939.1NPC1, SMPD1
3signal transductionGO:00071658.5FAS, NPC1, SMPD1

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

idNameGO IDScoreTop Affiliating Genes
1transmembrane signaling receptor activityGO:00048889.2FAS, NPC1
2receptor activityGO:00048729.1FAS, NPC1

Sources for Acid Sphingomyelinase Deficiency

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet