MCID: ACD003
MIFTS: 31

Acid Sphingomyelinase Deficiency malady

Genetic diseases (common) category

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 niemann-pick disease and lysosomal storage disease. An important gene associated with Acid Sphingomyelinase Deficiency is SMPD1 (sphingomyelin phosphodiesterase 1, acid lysosomal), and among its related pathways are FAS (CD95) signaling pathway and TWEAK Pathway. The compounds ceramides and sphingosine have been mentioned in the context of this disorder. Affiliated tissues include liver, lung and bone marrow, and related mouse phenotypes are liver/biliary system and respiratory system.

GeneReviews summary for npab

Aliases & Classifications for Acid Sphingomyelinase Deficiency

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Acid Sphingomyelinase Deficiency, Aliases & Descriptions:

Name: Acid Sphingomyelinase Deficiency 19 20
Niemann-Pick Disease, Type a 60
 
Sphingomyelinase Deficiency 60
Niemann-Pick Diseases 60


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


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 all 15)
idRelated DiseaseScoreTop Affiliating Genes
1niemann-pick disease31.2NPC1, SMPD1
2lysosomal storage disease30.1NPC1, SMPD1
3pick disease10.9
4niemann-pick disease, type a10.5
5niemann-pick disease, type b10.4
6beckwith-wiedemann syndrome10.2
7hepatitis10.2
8hyperglycemia10.2
9scleroderma10.2
10colorectal cancer10.0SMPD1, FAS
11viral infectious disease9.9SMPD1, FAS
12niemann-pick disease, type c19.9SMPD1, NPC1
13galactosemia9.9NPC1, FAS
14metabolic syndrome x9.9SMPD1, NPC1
15malignant glioma9.8SMPD1, FAS

Graphical network of 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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Drug clinical trials:

Search ClinicalTrials for Acid Sphingomyelinase Deficiency

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 Deficiency20 SMPD1

Anatomical Context for Acid Sphingomyelinase Deficiency

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MalaCards organs/tissues related to Acid Sphingomyelinase Deficiency:

31
Liver, Lung, Bone marrow, Bone, Brain, Skin

Animal Models for Acid Sphingomyelinase Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Acid Sphingomyelinase Deficiency:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.7NPC1, FAS, SMPD1
2MP:00053888.7NPC1, FAS, SMPD1
3MP:00053898.7SMPD1, FAS, NPC1
4MP:00053978.7NPC1, FAS, SMPD1
5MP:00053868.6NPC1, FAS, SMPD1
6MP:00053878.6SMPD1, FAS, NPC1
7MP:00053848.5NPC1, FAS, SMPD1
8MP:00053768.5NPC1, FAS, SMPD1
9MP:00036318.4SMPD1, FAS, NPC1
10MP:00053788.2NPC1, FAS, SMPD1

Publications for Acid Sphingomyelinase Deficiency

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Articles related to Acid Sphingomyelinase Deficiency:

(show all 44)
idTitleAuthorsYear
1
Reliable Assay of Acid Sphingomyelinase Deficiency with the Mutation Q292K by Tandem Mass Spectrometry. (25770139)
2015
2
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
3
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
4
Cirrhosis and Liver Failure: Expanding Phenotype of Acid Sphingomyelinase-Deficient Niemann-Pick Disease in Adulthood. (24718843)
2014
5
Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease. (23356216)
2013
6
Liver and skin histopathology in adults with acid sphingomyelinase deficiency (Niemann-Pick disease type B). (22613999)
2012
7
Optimization of a histopathological biomarker for sphingomyelin accumulation in acid sphingomyelinase deficiency. (22614361)
2012
8
Acid sphingomyelinase deficiency contributes to resistance of scleroderma fibroblasts to Fas-mediated apoptosis. (22771321)
2012
9
Acid sphingomyelinase deficiency attenuates bleomycin-induced lung inflammation and fibrosis in mice. (21063112)
2010
10
Acid sphingomyelinase deficiency does not protect from graft-versus-host disease in transplant recipients with Niemann-Pick disease. (20075175)
2010
11
Acid Sphingomyelinase Deficiency Prevents Diet-induced Hepatic Triacylglycerol Accumulation and Hyperglycemia in Mice. (19074137)
2009
12
The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. (20040312)
2009
13
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
14
Acid sphingomyelinase deficiency protects from cisplatin-induced gastrointestinal damage. (18679423)
2008
15
Acid sphingomyelinase-deficient Niemann-Pick disease: novel findings in a Greek child. (17876723)
2007
16
The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. (17632693)
2007
17
Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease. (17011332)
2006
18
Imprinting at the SMPD1 locus: implications for acid sphingomyelinase-deficient Niemann-Pick disease. (16642440)
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:

6
id Gene Variation Type Significance SNP ID Assembly Location
1SMPD1NM_000543.4(SMPD1): c.1493G> T (p.Arg498Leu)single nucleotide variantPathogenicrs120074117GRCh37Chr 11, 6415434: 6415434
2SMPD1NM_000543.4(SMPD1): c.1735G> A (p.Gly579Ser)single nucleotide variantPathogenicrs120074119GRCh37Chr 11, 6415676: 6415676
3SMPD1NM_000543.4(SMPD1): c.788T> A (p.Leu263Ter)single nucleotide variantPathogenicrs120074120GRCh37Chr 11, 6413083: 6413083
4SMPD1NM_000543.4(SMPD1): c.1152G> A (p.Met384Ile)single nucleotide variantPathogenicrs120074121GRCh37Chr 11, 6414506: 6414506
5SMPD1NM_000543.4(SMPD1): c.996delC (p.Phe333Serfs)deletionPathogenicrs387906289GRCh37Chr 11, 6413291: 6413291
6SMPD1NM_000543.4(SMPD1): c.1451C> A (p.Ala484Glu)single nucleotide variantPathogenicrs267607075GRCh37Chr 11, 6415236: 6415236
7SMPD1NM_000543.4(SMPD1): c.1406A> C (p.Tyr469Ser)single nucleotide variantPathogenicrs267607074GRCh37Chr 11, 6415191: 6415191

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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Pathways related to Acid Sphingomyelinase Deficiency according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
TRAIL signaling pathway36
9.3FAS, SMPD1
2
Show member pathways
Apoptosis and survival TNFR1 signaling pathway58
TWEAK Signaling Pathway36
Apoptosis Modulation by HSP7036
HIV-1 Nef- Negative effector of Fas and TNF-alpha36
9.3FAS, SMPD1
39.0NPC1, SMPD1

Compounds for genes affiliated with Acid Sphingomyelinase Deficiency

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Compounds related to Acid Sphingomyelinase Deficiency according to GeneCards Suite gene sharing:

(show all 15)
idCompoundScoreTop Affiliating Genes
1ceramides439.6FAS, SMPD1
2sphingosine43 24 1211.6FAS, SMPD1
3ceramide439.5SMPD1, FAS
4wortmannin439.5FAS, SMPD1
5doxorubicin43 49 1211.4FAS, SMPD1
6cisplatin43 49 59 1212.4FAS, SMPD1
7aspartate439.3SMPD1, FAS
8sterol439.3NPC1, FAS
9ganglioside439.3NPC1, SMPD1
10mannose 6-phosphate43 2410.3NPC1, SMPD1
11cholesterol43 28 24 1212.0NPC1, SMPD1
12h2o2439.0FAS, SMPD1
13cycloheximide439.0NPC1, FAS
14phosphatidylcholine438.8NPC1, FAS, SMPD1
15cysteine438.8SMPD1, FAS, NPC1

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:00451219.1NPC1, FAS

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

idNameGO IDScoreTop Affiliating Genes
1response to drugGO:00424939.0NPC1, SMPD1
2positive regulation of apoptotic processGO:00430659.0FAS, SMPD1
3signal transductionGO:00071658.4NPC1, FAS, SMPD1

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

idNameGO IDScoreTop Affiliating Genes
1receptor activityGO:00048729.1NPC1, FAS
2transmembrane signaling receptor activityGO:00048888.8NPC1, FAS

Products for genes affiliated with Acid Sphingomyelinase Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Acid Sphingomyelinase Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet