MCID: ACD003
MIFTS: 26

Acid Sphingomyelinase Deficiency malady

Category: Genetic diseases (common)

Aliases & Classifications for Acid Sphingomyelinase Deficiency

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Aliases & Descriptions for Acid Sphingomyelinase Deficiency:

Name: Acid Sphingomyelinase Deficiency 21 22
Niemann-Pick Disease, Type a 65
 
Niemann-Pick Diseases 65

Classifications:



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UMLS65 C0268242

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 glioblastoma and schizophrenia. An important gene associated with Acid Sphingomyelinase Deficiency is SMPD1 (Sphingomyelin Phosphodiesterase 1), and among its related pathways are DREAM Repression and Dynorphin Expression and . Affiliated tissues include liver, brain and prostate, and related mouse phenotypes are liver/biliary system and respiratory system.

GeneReviews summary for NBK1370

Related Diseases for Acid Sphingomyelinase Deficiency

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Graphical network of the top 20 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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Drugs for Acid Sphingomyelinase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Pharmaceutical SolutionsPhase 2, Phase 3, Phase 17004
2Liver ExtractsPhase 2, Phase 33572
3
AcetylcysteineapprovedPhase 1, Phase 2293616-91-112035
Synonyms:
(2R)-2-acetylamino-3-Sulfanylpropanoic acid
(R)-2-acetylamino-3-Mercaptopropanoic acid
(R)-Mercapturic acid
2-Acetylamino-3-mercapto-propionate
2-Acetylamino-3-mercapto-propionic acid
ACC
Acetadote
Acetilcisteina
Acetylcysteine
Acetylcysteinum
Fluimicil Infantil
Fluimucetin
Fluimucil
Flumucetin
 
Fluprowit
L-Acetylcysteine
L-alpha-acetamido-beta-Mercaptopropionic acid
Lysox
Mercapturic acid
Mucolysin
Mucomyst
N-ACETYL-L-cysteine
N-Acety-L-Cysteine
N-Acetyl-3-mercaptoalanine
N-Acetyl-L-(+)-cysteine
N-Acetylcysteine
N-acetylcysteine
NAC
Parvolex
Sodium 2-acetamido-3-mercaptopropionate
4N-monoacetylcystinePhase 1, Phase 2293
5Respiratory System AgentsPhase 1, Phase 23931
6ExpectorantsPhase 1, Phase 2337
7Protective AgentsPhase 1, Phase 25651
8Antiviral AgentsPhase 1, Phase 28071
9Anti-Infective AgentsPhase 1, Phase 217220
10AntioxidantsPhase 1, Phase 22442
11cysteineNutraceuticalPhase 1, Phase 2150

Interventional clinical trials:

idNameStatusNCT IDPhase
1Efficacy, Safety, Pharmacodynamic, and Pharmacokinetics Study of Olipudase Alfa in Patients With Acid Sphingomyelinase DeficiencyRecruitingNCT02004691Phase 2, Phase 3
2Trial in Children With Growth Failure Due to Early Onset Lysosomal Acid Lipase (LAL) Deficiency/Wolman DiseaseActive, not recruitingNCT01371825Phase 2, Phase 3
3Children With Lysosomal Acid Lipase Deficiency Who Previously Received Treatment With SBC-102TerminatedNCT01473875Phase 2, Phase 3
4Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl CysteineCompletedNCT00975689Phase 1, Phase 2
5A Long-Term Study of Olipudase Alfa in Patients With Acid Sphingomyelinase DeficiencyRecruitingNCT02004704Phase 2
6Safety, Tolerability, PK, and Efficacy Evaluation of Repeat Ascending Doses of Olipudase Alfa in Pediatric Patients <18 Years of Age With Acid Sphingomyelinase DeficiencyRecruitingNCT02292654Phase 1, Phase 2
7Clinical Trial in Infants With Rapidly Progressive Lysosomal Acid Lipase DeficiencyRecruitingNCT02193867Phase 2
8Tolerability and Safety Study of Recombinant Human Acid Sphingomyelinase in Acid Sphingomyelinase Deficiency PatientsCompletedNCT01722526Phase 1
9Safety Study of rhASM Enzyme Replacement Therapy in Adults With Acid Sphingomyelinase Deficiency (Niemann-Pick Disease)TerminatedNCT00410566Phase 1
10PET Scan of Brain Metabolism in Relation to Age and DiseaseCompletedNCT00001972

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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 Deficiency22 SMPD1

Anatomical Context for Acid Sphingomyelinase Deficiency

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MalaCards organs/tissues related to Acid Sphingomyelinase Deficiency:

33
Liver, Brain, Prostate, Placenta, Spinal cord, Nk cells, Monocytes

Animal Models for Acid Sphingomyelinase Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Acid Sphingomyelinase Deficiency:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.5FAS, NPC1, SMPD1
2MP:00053888.5FAS, NPC1, SMPD1
3MP:00053898.2FAS, NPC1, SMPD1

Publications for Acid Sphingomyelinase Deficiency

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Articles related to Acid Sphingomyelinase Deficiency:

(show all 45)
idTitleAuthorsYear
1
Should aspirin be used for primary prevention of thrombotic events in patients with membranous nephropathy? (27083274)
2016
2
Malignant Cylindroma of Post Aural Region Involving the Temporal Bone. (26393151)
2015
3
Influenza-related hospitalization of adults associated with low census tract socioeconomic status and female sex in New Haven County, Connecticut, 2007-2011. (24382111)
2014
4
A nontumorigenic variant of FGF19 treats cholestatic liver diseases. (25080475)
2014
5
The effect of submicron fat droplets in a drink on satiety, food intake, and cholecystokinin in healthy volunteers. (23975326)
2014
6
Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome. (24748328)
2014
7
ACTN3 R577X polymorphism and team-sport performance: a study involving three European cohorts. (23522773)
2014
8
The relationship between estrogen receptor gene polymorphism and mammographic density in postmenopausal women. (23078272)
2013
9
Update on laser-evoked potential findings in fibromyalgia patients in light of clinical and skin biopsy features. (24366650)
2013
10
HMGB1 as a potential therapeutic target for neuropathic pain. (24285082)
2013
11
Medium chain triglycerides dose-dependently prevent liver pathology in a rat model of non-alcoholic fatty liver disease. (23576797)
2013
12
Kidney cancer in 2013: From molecular understanding to clinical advances. (24366347)
2013
13
Podocyte-specific overexpression of human angiotensin-converting enzyme 2 attenuates diabetic nephropathy in mice. (22475818)
2012
14
Profound retroactive interference in anterograde amnesia: What interferes? (20438213)
2010
15
Magnetic resonance imaging of Jaccoud's arthropathy in systemic lupus erythematosus. (20356775)
2010
16
Targeted disruption of the Mast syndrome gene SPG21 in mice impairs hind limb function and alters axon branching in cultured cortical neurons. (20661613)
2010
17
Identification of basal-like carcinomas in clinical practice: &quot;triple zero/BRCA1-like&quot; carcinomas]. (20197250)
2010
18
Tumor-stroma co-evolution in prostate cancer progression and metastasis. (19948237)
2010
19
Primary alveolar echinococcosis: course of larval development and antibody responses in intermediate host rodents with different genetic backgrounds after oral infection with eggs of Echinococcus multilocularis. (20601109)
2010
20
Magnolol and honokiol prevent learning and memory impairment and cholinergic deficit in SAMP8 mice. (19815000)
2009
21
Lipidation of apolipoprotein A-I by ATP-binding cassette transporter (ABC) A1 generates an interaction partner for ABCG1 but not for scavenger receptor BI. (18485926)
2008
22
Role of the NH2 functionality and solvent in terdentate CNN alkoxide ruthenium complexes for the fast transfer hydrogenation of ketones in 2-propanol. (18384028)
2008
23
The prevalence and epidemiology of Gilles de la Tourette syndrome. Part 1: the epidemiological and prevalence studies. (18940377)
2008
24
Development of a cell-based assay for screening of phosphodiesterase 10A (PDE10A) inhibitors using a stable recombinant HEK-293 cell line expressing high levels of PDE10A. (17640173)
2008
25
Concomitant Sweet's syndrome and relapsing polychondritis. (17721651)
2007
26
Evidence for NK cell subsets based on chemokine receptor expression. (17114454)
2006
27
A case of metastatic colon adenocarcinoma in the larynx. (15880957)
2005
28
Differential HMGA expression and post-translational modifications in prostatic tumor cells. (15645138)
2005
29
Expression of eukaryotic initiation factor 4E in astrocytic tumors. (15894932)
2005
30
Fibrocartilaginous embolism--an uncommon cause of spinal cord infarction: a case report and review of the literature. (14970983)
2004
31
Treatment of melanoma cells with a bcl-2/bcl-xL antisense oligonucleotide induces antiangiogenic activity. (14627985)
2003
32
Cervical pregnancy with placenta accreta. (10405070)
1999
33
Parathyroid-hormone-related-protein-producing thymic carcinoma presenting as a giant extrathoracic mass. (9523373)
1998
34
Expression of monocyte chemoattractant protein-1 and other beta-chemokines by resident glia and inflammatory cells in multiple sclerosis lesions. (9628469)
1998
35
Prostate-specific membrane antigen. (9215402)
1997
36
Transforming growth factor beta 1-induced apoptosis in human ovarian carcinoma cells: protection by the antioxidant N-acetylcysteine and bcl-2. (8853906)
1996
37
Mechanisms of action of angiotensin I converting enzyme inhibitors]. (8058992)
1994
38
Superficial thrombophlebitis of the breast (Mondor's disease): mammographic findings. (8498215)
1993
39
A genetic model for the Prader-Willi syndrome and its implication for Angelman syndrome. (1427794)
1992
40
Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy. (1406935)
1992
41
A reference preparation for human immunoglobulin against Crimean/Congo hemorrhagic fever. (1904746)
1991
42
Epidermolysis bullosa dystrophica inversa in a child. (2193305)
1990
43
Familial thymic aplasia with intrauterine growth retardation and fetal death: a new syndrome or a variant of DiGeorge syndrome. (974247)
1976
44
Nursing care study: raised intracranial pressure and developing obstructive hydrocephalus. (1049948)
1976
45

Variations for Acid Sphingomyelinase Deficiency

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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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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
1perinuclear region of cytoplasmGO:00484719.1FAS, NPC1
2endosomeGO:00057688.9NPC1, SMPD1

Sources for Acid Sphingomyelinase Deficiency

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet