MCID: ACD003
MIFTS: 38

Acid Sphingomyelinase Deficiency malady

Summaries for Acid Sphingomyelinase Deficiency

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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 LDL Oxidation in Atherogenesis and IL-15 Signaling and its Primary Biological Effects in Different Immune Cell Types. The compounds u18666a and Alpha-D-Mannose-6-Phosphate have been mentioned in the context of this disorder. Affiliated tissues include lung, skin and bone, and related mouse phenotypes are vision/eye and respiratory system.

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Aliases & Classifications for Acid Sphingomyelinase Deficiency

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19GeneReviews, 20GeneTests
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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 top 50)    (show all 54)
idRelated DiseaseScoreTop Affiliating Genes
1niemann-pick disease31.2NPC1, SMPD1
2lysosomal storage disease30.2M6PR
3encephalomyelitis30.2CCL3, MBP, MPZ, PLP1
4graft versus host disease10.2
5beckwith-wiedemann syndrome10.2
6brain disease10.2
7hepatitis10.2
8hyperglycemia10.2
9liver disease10.2
10scleroderma10.2
11skin disease10.2
12neurologic diseases10.2
13leukodystrophy10.0PLP1
14poems syndrome10.0MAG
15acute disseminated encephalomyelitis10.0MBP
16paraplegia10.0PLP1
17wallerian degeneration10.0MPZ, MAG
18neuritis10.0MPZ, MBP
19myopathy10.0MPZ
20niemann–pick disease10.0M6PR, NPC1, SMPD1
21dementia10.0PLP1, NPC1
22pneumonia10.0SMPD1, CCL3
23herpes simplex10.0IGF2R
24sensory peripheral neuropathy10.0MAG, MPZ
25cocaine abuse10.0PLP1
26glycogen storage disease ii10.0IGF2R, M6PR
27encephalitis10.0CCL3, MBP
28astrocytoma10.0MBP, PLP1
29primary progressive multiple sclerosis10.0MBP, PLP1
30tropical spastic paraparesis10.0CCL3, MBP
31mucolipidosis ii10.0M6PR, IGF2R, SMPD1
32hereditary neuropathies10.0MPZ, MAG, PLP1
33neuropathy10.0MBP, MPZ, MAG
34neurilemmoma10.0MAG, MPZ, MBP
35metabolic syndrome x10.0SMPD1, NPC1, MBP
36pelizaeus-merzbacher disease10.0MBP, MPZ, PLP1
37neurofibroma10.0MBP, MAG, CNP
38guillain-barre syndrome10.0PLP1, MPZ, MBP
39polyneuropathy10.0MBP, MPZ, MAG
40myasthenia gravis10.0PLP1, MAG, MBP
41adrenoleukodystrophy10.0PLP1, MPZ, MBP
42tetanus10.0PLP1, MPZ, MBP
43oligodendroglioma10.0MBP, UGT8, PLP1, SMPD1
44glioblastoma multiforme10.0PLP1, FAS
45optic neuritis10.0PLP1, MAG, MPZ, MBP
46charcot-marie-tooth disease10.0PLP1, MAG, MPZ, MBP
47schizophrenia10.0MBP, MAG, CNP, PLP1
48immunodeficiency with hyper igm type 210.0MBP, CCL3, M6PR
49malignant glioma10.0PLP1, FAS, MBP
50alzheimer's disease10.0M6PR, CCL3, NPC1, MPZ, PLP1, SMPD1

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



Diseases related to acid sphingomyelinase deficiency

Clinical Features for Acid Sphingomyelinase Deficiency

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Drugs & Therapeutics for Acid Sphingomyelinase Deficiency

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Acid Sphingomyelinase Deficiency

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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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32MalaCards
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MalaCards organs/tissues related to Acid Sphingomyelinase Deficiency:

32
Lung, Skin, Bone, Liver, Brain, Bone marrow

Animal Models for Acid Sphingomyelinase Deficiency or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Acid Sphingomyelinase Deficiency:

36 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.3PLP1, CNP, FAS, NPC1, MBP
2MP:00053888.2NPC1, FAS, IGF2R, CNP, SMPD1
3MP:00053897.1M6PR, MBP, NPC1, FAS, MPZ, IGF2R
4MP:00053846.7M6PR, CCL3, MBP, NPC1, FAS, MPZ
5MP:00053876.6CCL3, MBP, NPC1, FAS, UGT8, MPZ
6MP:00053976.6CCL3, MBP, NPC1, FAS, MPZ, IGF2R
7MP:00053786.5M6PR, CCL3, NPC1, FAS, UGT8, IGF2R
8MP:00053766.0NPC1, MBP, CCL3, M6PR, FAS, UGT8
9MP:00036315.9FAS, NPC1, MBP, CCL3, UGT8, MPZ
10MP:00107685.9M6PR, CCL3, MBP, NPC1, FAS, UGT8
11MP:00053865.5SMPD1, M6PR, CCL3, MBP, NPC1, FAS

Publications for Acid Sphingomyelinase Deficiency

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50PubMed
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Articles related to Acid Sphingomyelinase Deficiency:

(show all 41)
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 gene deficiency ameliorates the hyperhomocysteinemia-induced glomerular injury in mice. (21893018)
2011
6
Acid sphingomyelinase deficiency attenuates bleomycin-induced lung inflammation and fibrosis in mice. (21063112)
2010
7
Acid sphingomyelinase deficiency does not protect from graft-versus-host disease in transplant recipients with Niemann-Pick disease. (20075175)
2010
8
Acid Sphingomyelinase Deficiency Prevents Diet-induced Hepatic Triacylglycerol Accumulation and Hyperglycemia in Mice. (19074137)
2009
9
The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. (20040312)
2009
10
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
11
Acid sphingomyelinase deficiency protects from cisplatin-induced gastrointestinal damage. (18679423)
2008
12
Acid sphingomyelinase-deficient Niemann-Pick disease: novel findings in a Greek child. (17876723)
2007
13
The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. (17632693)
2007
14
Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease. (17011332)
2006
15
Imprinting at the SMPD1 locus: implications for acid sphingomyelinase-deficient Niemann-Pick disease. (16642440)
2006
16
Acid sphingomyelinase deficiency: cardiac dysfunction and characteristic findings of the coronary arteries. (16601902)
2006
17
Acid sphingomyelinase deficiency increases susceptibility to fatal alphavirus encephalomyelitis. (16943298)
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

Genetic Variations for Acid Sphingomyelinase Deficiency

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Expression for genes affiliated with Acid Sphingomyelinase Deficiency

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1BioGPS, 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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51QIAGEN, 52R&D Systems, 12EMD Millipore, 29KEGG, 37NCBI BioSystems Database
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Pathways related to Acid Sphingomyelinase Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4SMPD1, CCL3
2
Hide members
9.2FAS, CCL3
39.1MBP, CCL3
49.1M6PR, NPC1, IGF2R, SMPD1
58.5PLP1, CNP, MAG, MBP

Compounds for genes affiliated with Acid Sphingomyelinase Deficiency

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44Novoseek, 11DrugBank, 24HMDB, 28IUPHAR, 49PharmGKB
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Compounds related to Acid Sphingomyelinase Deficiency according to GeneCards/GeneDecks:

(show all 39)
idCompoundScoreTop Affiliating Genes
1u18666a4410.1IGF2R, NPC1
2Alpha-D-Mannose-6-Phosphate1110.0IGF2R, M6PR
3cerebrosides4410.0MPZ, MBP
4cerebroside449.9UGT8, MBP
5ceramides449.9SMPD1, FAS
6monensin449.8SMPD1, M6PR
7glatiramer acetate44 1110.7PLP1, MPZ, MBP
8ceramide449.6SMPD1, UGT8, FAS
9mannose449.6SMPD1, IGF2R, M6PR
10mannose 6-phosphate44 2410.5M6PR, NPC1, IGF2R, SMPD1
11glycolipid449.4NPC1, UGT8, MPZ, MAG
12phosphothreonine449.4MBP, MAG
13ivig449.4MBP, FAS, MAG
14phosphatidylserine44 28 1111.3MBP, FAS, PLP1
15phospholipid449.3MBP, IGF2R, PLP1, SMPD1
16phosphoserine44 2410.1CNP, MAG, MBP
17phosphatidylcholine449.0MBP, NPC1, FAS, PLP1, SMPD1
18cocaine44 1110.0PLP1, MBP, CCL3
19heparan sulfate44 2410.0M6PR, CCL3, IGF2R
20cytarabine44 49 1111.0CCL3, MBP, FAS
21ganglioside449.0MBP, NPC1, MPZ, MAG, SMPD1
22prednisolone44 28 1111.0FAS, MBP, CCL3
23sucrose44 11 2410.9CNP, IGF2R, M6PR
24sulfatide448.9MBP, UGT8, MPZ, MAG, PLP1
25cycloheximide448.6CCL3, MBP, NPC1, FAS
262,3-cyclic nucleotide448.6PLP1, CNP, MAG, MPZ, MBP
27wortmannin448.5M6PR, CCL3, FAS, IGF2R, SMPD1
28polysaccharide448.3M6PR, CCL3, FAS, IGF2R, MAG
29retinoic acid44 249.2CCL3, MBP, FAS, IGF2R, PLP1
30thymidine44 249.2CCL3, MBP, FAS, MAG, PLP1
31arginine448.2M6PR, MBP, FAS, MPZ, IGF2R, PLP1
32glutamate448.2CCL3, MBP, MPZ, CNP, PLP1
33h2o2448.2CCL3, MBP, FAS, SMPD1
34cholesterol44 28 11 2411.0M6PR, CCL3, NPC1, MPZ, IGF2R, PLP1
35aspartate448.0CCL3, MBP, FAS, MPZ, MAG, SMPD1
36tyrosine448.0M6PR, MBP, FAS, MPZ, IGF2R, MAG
37serine447.2M6PR, CCL3, MBP, FAS, MPZ, IGF2R
38lipid446.9M6PR, MBP, NPC1, UGT8, MPZ, IGF2R
39cysteine446.6NPC1, MBP, CCL3, M6PR, FAS, MPZ

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
1myelin sheathGO:0432099.5PLP1, MPZ
2lysosomal membraneGO:0057659.4IGF2R, NPC1, M6PR

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

idNameGO IDScoreTop Affiliating Genes
1axon ensheathmentGO:0083669.5PLP1, MBP
2negative regulation of axonogenesisGO:0507719.4MAG, MBP
3synaptic transmissionGO:0072688.4MBP, MPZ, CNP, PLP1
4response to toxic substanceGO:0096368.1CNP, FAS, MBP, CCL3

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

idNameGO IDScoreTop Affiliating Genes
1structural constituent of myelin sheathGO:0199119.6PLP1, MBP
2receptor activityGO:0048729.4IGF2R, FAS, NPC1
3mannose bindingGO:0055379.3M6PR, IGF2R
4transmembrane signaling receptor activityGO:0048889.2FAS, NPC1, M6PR

Products for genes affiliated with Acid Sphingomyelinase Deficiency

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet