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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MalaCards based summary: 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 liver, lung and bone marrow, 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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Acid Sphingomyelinase Deficiency, Aliases & Descriptions:

Name: Acid Sphingomyelinase Deficiency 19 20 62


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/GeneDecks gene sharing:

(show all 13)
idRelated DiseaseScoreTop Affiliating Genes
1niemann-pick disease31.2SMPD1, NPC1
2lysosomal storage disease30.1NPC1, SMPD1
3beckwith-wiedemann syndrome10.2
4graft versus host disease10.2
5hepatitis10.2
6hyperglycemia10.2
7scleroderma10.2
8colonic benign neoplasm10.0FAS, SMPD1
9viral infectious disease9.9FAS, SMPD1
10niemann-pick disease type c19.9SMPD1, NPC1
11galactosemia9.9NPC1, FAS
12metabolic syndrome x9.9SMPD1, NPC1
13malignant glioma9.8FAS, 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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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:

32
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:

36
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 41)
idTitleAuthorsYear
1
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
2
Cirrhosis and Liver Failure: Expanding Phenotype of Acid Sphingomyelinase-Deficient Niemann-Pick Disease in Adulthood. (24718843)
2014
3
Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease. (23356216)
2013
4
Liver and skin histopathology in adults with acid sphingomyelinase deficiency (Niemann-Pick disease type B). (22613999)
2012
5
Optimization of a histopathological biomarker for sphingomyelin accumulation in acid sphingomyelinase deficiency. (22614361)
2012
6
Acid sphingomyelinase deficiency contributes to resistance of scleroderma fibroblasts to Fas-mediated apoptosis. (22771321)
2012
7
Acid sphingomyelinase deficiency attenuates bleomycin-induced lung inflammation and fibrosis in mice. (21063112)
2010
8
Acid sphingomyelinase deficiency does not protect from graft-versus-host disease in transplant recipients with Niemann-Pick disease. (20075175)
2010
9
Acid Sphingomyelinase Deficiency Prevents Diet-induced Hepatic Triacylglycerol Accumulation and Hyperglycemia in Mice. (19074137)
2009
10
The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. (20040312)
2009
11
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
12
Acid sphingomyelinase deficiency protects from cisplatin-induced gastrointestinal damage. (18679423)
2008
13
Acid sphingomyelinase-deficient Niemann-Pick disease: novel findings in a Greek child. (17876723)
2007
14
The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. (17632693)
2007
15
Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease. (17011332)
2006
16
Imprinting at the SMPD1 locus: implications for acid sphingomyelinase-deficient Niemann-Pick disease. (16642440)
2006
17
Acid sphingomyelinase deficiency: cardiac dysfunction and characteristic findings of the coronary arteries. (16601902)
2006
18
Niemann-Pick type C disease: novel NPC1 mutations and characterization of the concomitant acid sphingomyelinase deficiency. (16143556)
2006
19
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
20
Effects of acid sphingomyelinase deficiency on male germ cell development and programmed cell death. (15371271)
2005
21
Mannose 6-phosphate receptor-mediated uptake is defective in acid sphingomyelinase-deficient macrophages: implications for Niemann-Pick disease enzyme replacement therapy. (14557264)
2004
22
Alveolar lipoproteinosis in an acid sphingomyelinase-deficient mouse model of Niemann-Pick disease. (12495943)
2003
23
Intracerebral transplantation of mesenchymal stem cells into acid sphingomyelinase-deficient mice delays the onset of neurological abnormalities and extends their life span. (11994407)
2002
24
Reproductive pathology and sperm physiology in acid sphingomyelinase-deficient mice. (12213735)
2002
25
Apoptosis and signalling in acid sphingomyelinase deficient cells. (11722792)
2001
26
Niemann-Pick Disease versus acid sphingomyelinase deficiency. (11313707)
2001
27
Analysis of the lung pathology and alveolar macrophage function in the acid sphingomyelinase--deficient mouse model of Niemann-Pick disease. (11454988)
2001
28
Acid sphingomyelinase deficiency in Beckwith Wiedemann syndrome. (11173664)
2000
29
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
30
MRI in an unusually protracted neuronopathic variant of acid sphingomyelinase deficiency. (10206162)
1999
31
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
32
Niemann-Pick disease [type A and B] (acid sphingomyelinase deficiencies)]. (9645083)
1998
33
Two novel mutations in patients with atypical phenotypes of acid sphingomyelinase deficiency. (9266408)
1997
34
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
35
Acid sphingomyelinase-deficient human lymphoblasts and mice are defective in radiation-induced apoptosis. (8706124)
1996
36
Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick disease. (7670466)
1995
37
Molecular analysis of the acid sphingomyelinase deficiency in a family with an intermediate form of Niemann-Pick disease. (7762557)
1995
38
Acid sphingomyelinase-deficient mice mimic the neurovisceral form of human lysosomal storage disease (Niemann-Pick disease). (7600574)
1995
39
Acid Sphingomyelinase Deficiency (20301544)
1993
40
Molecular basis of acid sphingomyelinase deficiency in a patient with Niemann-Pick disease type A. (1718266)
1991
41
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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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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Pathways related to Acid Sphingomyelinase Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
TRAIL signaling pathway37
9.3FAS, SMPD1
2
Show member pathways
Apoptosis and survival TNFR1 signaling pathway60
TWEAK Signaling Pathway37
Apoptosis Modulation by HSP7037
HIV-1 Nef- Negative effector of Fas and TNF-alpha37
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/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1ceramides449.6FAS, SMPD1
2sphingosine44 24 1111.6FAS, SMPD1
3ceramide449.5SMPD1, FAS
4wortmannin449.5FAS, SMPD1
5doxorubicin44 50 1111.4FAS, SMPD1
6cisplatin44 50 61 1112.4FAS, SMPD1
7aspartate449.3SMPD1, FAS
8sterol449.3NPC1, FAS
9ganglioside449.3NPC1, SMPD1
10mannose 6-phosphate44 2410.3NPC1, SMPD1
11cholesterol44 28 24 1112.0NPC1, SMPD1
12h2o2449.0FAS, SMPD1
13cycloheximide449.0NPC1, FAS
14phosphatidylcholine448.8NPC1, FAS, SMPD1
15cysteine448.8SMPD1, 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/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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  • Proteins
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Sources for Acid Sphingomyelinase Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet