MCID: ACD003
MIFTS: 33

Acid Sphingomyelinase Deficiency malady

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 niemann–pick 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 skin, liver and lung, and related mouse phenotypes are vision/eye and respiratory system.

GeneReviews summary for npab

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 52)
idRelated DiseaseScoreTop Affiliating Genes
1niemann-pick disease31.3NPC1, SMPD1
2niemann–pick disease31.3NPC1, SMPD1, M6PR
3pick's disease10.9
4niemann-pick disease type d10.6
5m�ni�re disease10.3
6graft versus host disease10.2
7beckwith-wiedemann syndrome10.2
8brain disease10.2
9lip disease10.2
10lysosomal storage disease10.0M6PR
11leukodystrophy10.0PLP1
12poems syndrome10.0MAG
13acute disseminated encephalomyelitis10.0MBP
14paraplegia10.0PLP1
15wallerian degeneration10.0MAG, MPZ
16neuritis10.0MPZ, MBP
17myopathy10.0MPZ
18dementia10.0NPC1, PLP1
19pneumonia10.0SMPD1, CCL3
20herpes simplex10.0IGF2R
21sensory peripheral neuropathy10.0MAG, MPZ
22cocaine abuse10.0PLP1
23glycogen storage disease ii10.0M6PR, IGF2R
24encephalitis10.0CCL3, MBP
25astrocytoma10.0MBP, PLP1
26primary progressive multiple sclerosis10.0MBP, PLP1
27tropical spastic paraparesis10.0CCL3, MBP
28mucolipidosis ii10.0SMPD1, M6PR, IGF2R
29hereditary neuropathies10.0PLP1, MAG, MPZ
30neuropathy10.0MAG, MBP, MPZ
31neurilemmoma10.0MAG, MBP, MPZ
32metabolic syndrome x10.0MBP, SMPD1, NPC1
33pelizaeus-merzbacher disease10.0MPZ, MBP, PLP1
34neurofibroma10.0MBP, MAG, CNP
35guillain-barre syndrome10.0MBP, PLP1, MPZ
36polyneuropathy10.0MPZ, MBP, MAG
37myasthenia gravis10.0MAG, MBP, PLP1
38adrenoleukodystrophy10.0MBP, MPZ, PLP1
39tetanus10.0PLP1, MPZ, MBP
40oligodendroglioma10.0SMPD1, PLP1, UGT8, MBP
41glioblastoma multiforme10.0FAS, PLP1
42optic neuritis10.0PLP1, MPZ, MBP, MAG
43charcot-marie-tooth disease10.0PLP1, MAG, MPZ, MBP
44encephalomyelitis10.0MBP, PLP1, CCL3, MPZ
45schizophrenia10.0CNP, MBP, PLP1, MAG
46immunodeficiency with hyper igm type 210.0M6PR, CCL3, MBP
47malignant glioma10.0FAS, MBP, PLP1
48alzheimer's disease10.0CCL3, NPC1, MPZ, PLP1, SMPD1, M6PR
49hypersensitivity reaction type ii disease10.0MBP, MPZ, PLP1, FAS
50viral infectious disease10.0MPZ, FAS, CCL3, IGF2R, 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

Drugs & Therapeutics for Acid Sphingomyelinase Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Acid Sphingomyelinase Deficiency

Drug clinical trials:

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Search NIH Clinical Center for Acid Sphingomyelinase Deficiency

Search CenterWatch 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

Sources:
33MalaCards
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MalaCards organs/tissues related to Acid Sphingomyelinase Deficiency:

33
Skin, Liver, Lung, B cells

Animal Models for Acid Sphingomyelinase Deficiency or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Acid Sphingomyelinase Deficiency

Sources:
51PubMed
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Articles related to Acid Sphingomyelinase Deficiency:

(show all 22)
idTitleAuthorsYear
1
Liver and skin histopathology in adults with acid sphingomyelinase deficiency (Niemann-Pick disease type B). (22613999)
2012
2
Optimization of a histopathological biomarker for sphingomyelin accumulation in acid sphingomyelinase deficiency. (22614361)
2012
3
Acid sphingomyelinase deficiency contributes to resistance of scleroderma fibroblasts to Fas-mediated apoptosis. (22771321)
2012
4
Acid sphingomyelinase gene deficiency ameliorates the hyperhomocysteinemia-induced glomerular injury in mice. (21893018)
2011
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
Acid sphingomyelinase deficiency protects from cisplatin-induced gastrointestinal damage. (18679423)
2008
9
Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease. (17011332)
2006
10
Acid sphingomyelinase deficiency: cardiac dysfunction and characteristic findings of the coronary arteries. (16601902)
2006
11
Acid sphingomyelinase deficiency increases susceptibility to fatal alphavirus encephalomyelitis. (16943298)
2006
12
Niemann-Pick type C disease: novel NPC1 mutations and characterization of the concomitant acid sphingomyelinase deficiency. (16143556)
2006
13
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
14
Effects of acid sphingomyelinase deficiency on male germ cell development and programmed cell death. (15371271)
2005
15
Niemann-Pick Disease versus acid sphingomyelinase deficiency. (11313707)
2001
16
Acid sphingomyelinase deficiency in Beckwith Wiedemann syndrome. (11173664)
2000
17
MRI in an unusually protracted neuronopathic variant of acid sphingomyelinase deficiency. (10206162)
1999
18
Two novel mutations in patients with atypical phenotypes of acid sphingomyelinase deficiency. (9266408)
1997
19
Molecular analysis of the acid sphingomyelinase deficiency in a family with an intermediate form of Niemann-Pick disease. (7762557)
1995
20
Acid Sphingomyelinase Deficiency (20301544)
1993
21
Molecular basis of acid sphingomyelinase deficiency in a patient with Niemann-Pick disease type A. (1718266)
1991
22
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

Expression for genes affiliated with Acid Sphingomyelinase Deficiency

Sources:
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

Sources:
52QIAGEN, 53R&D Systems, 12EMD Millipore, 30KEGG, 38NCBI 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

Sources:
45Novoseek, 11DrugBank, 24HMDB, 29IUPHAR, 50PharmGKB
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Compounds related to Acid Sphingomyelinase Deficiency according to GeneCards/GeneDecks:

(show all 39)
idCompoundScoreTop Affiliating Genes
1u18666a4510.1IGF2R, NPC1
2Alpha-D-Mannose-6-Phosphate1110.0IGF2R, M6PR
3cerebrosides4510.0MPZ, MBP
4cerebroside459.9UGT8, MBP
5ceramides459.9SMPD1, FAS
6monensin459.8SMPD1, M6PR
7glatiramer acetate45 1110.7PLP1, MPZ, MBP
8ceramide459.6SMPD1, UGT8, FAS
9mannose459.6SMPD1, IGF2R, M6PR
10mannose 6-phosphate45 2410.5M6PR, NPC1, IGF2R, SMPD1
11glycolipid459.4NPC1, UGT8, MPZ, MAG
12phosphothreonine459.4MBP, MAG
13ivig459.4MBP, FAS, MAG
14phosphatidylserine45 29 1111.3MBP, FAS, PLP1
15phospholipid459.3MBP, IGF2R, PLP1, SMPD1
16phosphoserine45 2410.1CNP, MAG, MBP
17phosphatidylcholine459.0MBP, NPC1, FAS, PLP1, SMPD1
18cocaine45 1110.0PLP1, MBP, CCL3
19heparan sulfate45 2410.0M6PR, CCL3, IGF2R
20cytarabine45 50 1111.0CCL3, MBP, FAS
21ganglioside459.0MBP, NPC1, MPZ, MAG, SMPD1
22prednisolone45 29 1111.0FAS, MBP, CCL3
23sucrose45 11 2410.9CNP, IGF2R, M6PR
24sulfatide458.9MBP, UGT8, MPZ, MAG, PLP1
25cycloheximide458.6CCL3, MBP, NPC1, FAS
262,3-cyclic nucleotide458.6PLP1, CNP, MAG, MPZ, MBP
27wortmannin458.5M6PR, CCL3, FAS, IGF2R, SMPD1
28polysaccharide458.3M6PR, CCL3, FAS, IGF2R, MAG
29retinoic acid45 249.2CCL3, MBP, FAS, IGF2R, PLP1
30thymidine45 249.2CCL3, MBP, FAS, MAG, PLP1
31arginine458.2M6PR, MBP, FAS, MPZ, IGF2R, PLP1
32glutamate458.2CCL3, MBP, MPZ, CNP, PLP1
33h2o2458.2CCL3, MBP, FAS, SMPD1
34cholesterol45 29 11 2411.0M6PR, CCL3, NPC1, MPZ, IGF2R, PLP1
35aspartate458.0CCL3, MBP, FAS, MPZ, MAG, SMPD1
36tyrosine458.0M6PR, MBP, FAS, MPZ, IGF2R, MAG
37serine457.2M6PR, CCL3, MBP, FAS, MPZ, IGF2R
38lipid456.9M6PR, MBP, NPC1, UGT8, MPZ, IGF2R
39cysteine456.6NPC1, MBP, CCL3, M6PR, FAS, MPZ

GO Terms for genes affiliated with Acid Sphingomyelinase Deficiency

Sources:
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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Acid Sphingomyelinase Deficiency

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet