MCID: ACD003
MIFTS: 34

Acid Sphingomyelinase Deficiency malady

Genetic diseases (common) category
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Summaries for Acid Sphingomyelinase Deficiency

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19GeneReviews, 33MalaCards
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MalaCards: Acid Sphingomyelinase Deficiency 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 lung, bone marrow and bone, and related mouse phenotypes are liver/biliary system and respiratory system.

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Aliases & Classifications for Acid Sphingomyelinase Deficiency

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19GeneReviews, 20GeneTests
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Classifications:

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


Aliases & Descriptions:

acid sphingomyelinase deficiency 19 20


Related Diseases for Acid Sphingomyelinase Deficiency

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17GeneCards, 18GeneDecks
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Diseases related to Acid Sphingomyelinase Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 13)
idRelated DiseaseScoreTop Affiliating Genes
1niemann-pick disease31.3SMPD1, NPC1
2lysosomal storage disease30.2NPC1, SMPD1
3graft versus host disease10.2
4beckwith-wiedemann syndrome10.2
5encephalomyelitis10.2
6hepatitis10.2
7hyperglycemia10.2
8scleroderma10.2
9colon cancer10.0FAS, SMPD1
10viral infectious disease10.0FAS, SMPD1
11galactosemia10.0NPC1, FAS
12metabolic syndrome x10.0SMPD1, NPC1
13malignant glioma10.0FAS, SMPD1

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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42NIH Clinical Center, 6ClinicalTrials
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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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20GeneTests
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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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33MalaCards
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MalaCards organs/tissues related to Acid Sphingomyelinase Deficiency:

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

Animal Models for Acid Sphingomyelinase Deficiency or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Acid Sphingomyelinase Deficiency:

37
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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52PubMed
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Articles related to Acid Sphingomyelinase Deficiency:

(show all 40)
idTitleAuthorsYear
1
Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease. (23356216)
2013
2
Liver and skin histopathology in adults with acid sphingomyelinase deficiency (Niemann-Pick disease type B). (22613999)
2012
3
Optimization of a histopathological biomarker for sphingomyelin accumulation in acid sphingomyelinase deficiency. (22614361)
2012
4
Acid sphingomyelinase deficiency contributes to resistance of scleroderma fibroblasts to Fas-mediated apoptosis. (22771321)
2012
5
Acid sphingomyelinase deficiency attenuates bleomycin-induced lung inflammation and fibrosis in mice. (21063112)
2010
6
Acid sphingomyelinase deficiency does not protect from graft-versus-host disease in transplant recipients with Niemann-Pick disease. (20075175)
2010
7
Acid Sphingomyelinase Deficiency Prevents Diet-induced Hepatic Triacylglycerol Accumulation and Hyperglycemia in Mice. (19074137)
2009
8
The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. (20040312)
2009
9
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
10
Acid sphingomyelinase deficiency protects from cisplatin-induced gastrointestinal damage. (18679423)
2008
11
Acid sphingomyelinase-deficient Niemann-Pick disease: novel findings in a Greek child. (17876723)
2007
12
The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. (17632693)
2007
13
Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease. (17011332)
2006
14
Imprinting at the SMPD1 locus: implications for acid sphingomyelinase-deficient Niemann-Pick disease. (16642440)
2006
15
Acid sphingomyelinase deficiency: cardiac dysfunction and characteristic findings of the coronary arteries. (16601902)
2006
16
Acid sphingomyelinase deficiency increases susceptibility to fatal alphavirus encephalomyelitis. (16943298)
2006
17
Niemann-Pick type C disease: novel NPC1 mutations and characterization of the concomitant acid sphingomyelinase deficiency. (16143556)
2006
18
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
19
Effects of acid sphingomyelinase deficiency on male germ cell development and programmed cell death. (15371271)
2005
20
Mannose 6-phosphate receptor-mediated uptake is defective in acid sphingomyelinase-deficient macrophages: implications for Niemann-Pick disease enzyme replacement therapy. (14557264)
2004
21
Alveolar lipoproteinosis in an acid sphingomyelinase-deficient mouse model of Niemann-Pick disease. (12495943)
2003
22
Intracerebral transplantation of mesenchymal stem cells into acid sphingomyelinase-deficient mice delays the onset of neurological abnormalities and extends their life span. (11994407)
2002
23
Reproductive pathology and sperm physiology in acid sphingomyelinase-deficient mice. (12213735)
2002
24
Apoptosis and signalling in acid sphingomyelinase deficient cells. (11722792)
2001
25
Niemann-Pick Disease versus acid sphingomyelinase deficiency. (11313707)
2001
26
Analysis of the lung pathology and alveolar macrophage function in the acid sphingomyelinase--deficient mouse model of Niemann-Pick disease. (11454988)
2001
27
Acid sphingomyelinase deficiency in Beckwith Wiedemann syndrome. (11173664)
2000
28
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
29
MRI in an unusually protracted neuronopathic variant of acid sphingomyelinase deficiency. (10206162)
1999
30
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
31
Niemann-Pick disease [type A and B] (acid sphingomyelinase deficiencies)]. (9645083)
1998
32
Two novel mutations in patients with atypical phenotypes of acid sphingomyelinase deficiency. (9266408)
1997
33
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
34
Acid sphingomyelinase-deficient human lymphoblasts and mice are defective in radiation-induced apoptosis. (8706124)
1996
35
Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick disease. (7670466)
1995
36
Molecular analysis of the acid sphingomyelinase deficiency in a family with an intermediate form of Niemann-Pick disease. (7762557)
1995
37
Acid sphingomyelinase-deficient mice mimic the neurovisceral form of human lysosomal storage disease (Niemann-Pick disease). (7600574)
1995
38
Acid Sphingomyelinase Deficiency (20301544)
1993
39
Molecular basis of acid sphingomyelinase deficiency in a patient with Niemann-Pick disease type A. (1718266)
1991
40
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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Expression for genes affiliated with Acid Sphingomyelinase Deficiency

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Acid Sphingomyelinase Deficiency

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

Pathways for genes affiliated with Acid Sphingomyelinase Deficiency

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50PathCards, 38NCBI BioSystems Database, 53QIAGEN, 60Thomson Reuters, 55Reactome, 30KEGG
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Pathways related to Acid Sphingomyelinase Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
TRAIL signaling pathway38
9.3FAS, SMPD1
2
Show member pathways
Apoptosis and survival TNFR1 signaling pathway60
TWEAK Signaling Pathway38
Apoptosis Modulation by HSP7038
HIV-1 Nef- Negative effector of Fas and TNF-alpha38
9.3FAS, SMPD1
39.0NPC1, SMPD1

Compounds for genes affiliated with Acid Sphingomyelinase Deficiency

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45Novoseek, 24HMDB, 11DrugBank, 51PharmGKB, 61Tocris Bioscience, 29IUPHAR
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Compounds related to Acid Sphingomyelinase Deficiency according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1ceramides459.6FAS, SMPD1
2sphingosine45 24 1111.6FAS, SMPD1
3ceramide459.5SMPD1, FAS
4wortmannin459.5FAS, SMPD1
5doxorubicin45 51 1111.4FAS, SMPD1
6cisplatin45 51 61 1112.4FAS, SMPD1
7aspartate459.3SMPD1, FAS
8sterol459.3NPC1, FAS
9ganglioside459.3NPC1, SMPD1
10mannose 6-phosphate45 2410.3NPC1, SMPD1
11cholesterol45 29 24 1112.0NPC1, SMPD1
12h2o2459.0FAS, SMPD1
13cycloheximide459.0NPC1, FAS
14phosphatidylcholine458.8NPC1, FAS, SMPD1
15cysteine458.8SMPD1, FAS, NPC1

GO Terms for genes affiliated with Acid Sphingomyelinase Deficiency

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16Gene Ontology
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Cellular components related to Acid Sphingomyelinase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1membrane raftGO:0451219.1NPC1, FAS

Biological processes related to Acid Sphingomyelinase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1response to drugGO:0424939.0NPC1, SMPD1
2positive regulation of apoptotic processGO:0430659.0FAS, SMPD1
3signal transductionGO:0071658.4NPC1, FAS, SMPD1

Molecular functions related to Acid Sphingomyelinase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1receptor activityGO:0048729.1NPC1, FAS
2transmembrane signaling receptor activityGO:0048888.8NPC1, FAS

Products for genes affiliated with Acid Sphingomyelinase Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Acid Sphingomyelinase Deficiency

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet