Aliases & Classifications for Acid Sphingomyelinase Deficiency

MalaCards integrated aliases for Acid Sphingomyelinase Deficiency:

Name: Acid Sphingomyelinase Deficiency 24
Niemann-Pick Disease, Type a 73
Niemann-Pick Diseases 73

External Ids:

Summaries for Acid Sphingomyelinase Deficiency

MalaCards based summary : Acid Sphingomyelinase Deficiency, also known as niemann-pick disease, type a, is related to niemann-pick disease and niemann-pick disease, type b, and has symptoms including muscle weakness, constipation and vomiting. An important gene associated with Acid Sphingomyelinase Deficiency is SMPD1 (Sphingomyelin Phosphodiesterase 1), and among its related pathways/superpathways are DREAM Repression and Dynorphin Expression and TNF signaling (REACTOME). The drug Pharmaceutical Solutions has been mentioned in the context of this disorder. Affiliated tissues include liver, lung and skin, and related phenotypes are liver/biliary system and reproductive system

Wikipedia : 76 Acid sphingomyelinase is one of the enzymes that make up the sphingomyelinase (SMase) family,... more...

GeneReviews: NBK1370

Related Diseases for Acid Sphingomyelinase Deficiency

Diseases related to Acid Sphingomyelinase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 niemann-pick disease 30.8 NPC1 SMPD1
2 niemann-pick disease, type b 30.2 NPC1 SMPD1
3 niemann-pick disease, type a 30.1 NPC1 SMPD1
4 beckwith-wiedemann syndrome 9.9
5 graft-versus-host disease 9.9
6 infantile liver failure syndrome 1 9.9
7 lysosomal storage disease 9.9
8 hyperglycemia 9.9
9 niemann-pick disease, type c2 9.9 NPC1 SMPD1
10 niemann-pick disease, type c1 9.9 NPC1 SMPD1
11 sphingolipidosis 9.8 NPC1 SMPD1
12 lipid storage disease 9.8 NPC1 SMPD1

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



Diseases related to Acid Sphingomyelinase Deficiency

Symptoms & Phenotypes for Acid Sphingomyelinase Deficiency

UMLS symptoms related to Acid Sphingomyelinase Deficiency:


muscle weakness, constipation, vomiting

MGI Mouse Phenotypes related to Acid Sphingomyelinase Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.33 FAS NPC1 SMPD1
2 reproductive system MP:0005389 9.13 FAS NPC1 SMPD1
3 respiratory system MP:0005388 8.8 FAS NPC1 SMPD1

Drugs & Therapeutics for Acid Sphingomyelinase Deficiency

Drugs for Acid Sphingomyelinase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 2, Phase 3,Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Efficacy, Safety, Pharmacodynamic, and Pharmacokinetics Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Active, not recruiting NCT02004691 Phase 2, Phase 3 placebo (saline);GZ402665
2 Safety, Tolerability, PK, and Efficacy Evaluation of Repeat Ascending Doses of Olipudase Alfa in Pediatric Patients <18 Years of Age With Acid Sphingomyelinase Deficiency Active, not recruiting NCT02292654 Phase 1, Phase 2 Olipudase alfa
3 A Long-Term Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Enrolling by invitation NCT02004704 Phase 2 GZ402665
4 Tolerability and Safety Study of Recombinant Human Acid Sphingomyelinase in Acid Sphingomyelinase Deficiency Patients Completed NCT01722526 Phase 1 Recombinant human acid sphingomyelinase
5 Safety Study of rhASM Enzyme Replacement Therapy in Adults With Acid Sphingomyelinase Deficiency (Niemann-Pick Disease) Terminated NCT00410566 Phase 1 rhASM;rhASM;rhASM;rhASM;rhASM

Search NIH Clinical Center for Acid Sphingomyelinase Deficiency

Genetic Tests for Acid Sphingomyelinase Deficiency

Anatomical Context for Acid Sphingomyelinase Deficiency

MalaCards organs/tissues related to Acid Sphingomyelinase Deficiency:

41
Liver, Lung, Skin, Adipocyte

Publications for Acid Sphingomyelinase Deficiency

Articles related to Acid Sphingomyelinase Deficiency:

(show all 39)
# Title Authors Year
1
Quantitative Systems Pharmacology Modeling of Acid Sphingomyelinase Deficiency and the Enzyme Replacement Therapy Olipudase Alfa Is an Innovative Tool for Linking Pathophysiology and Pharmacology. ( 29920993 )
2018
2
Olipudase alfa for treatment of acid sphingomyelinase deficiency (ASMD): safety and efficacy in adults treated for 30 months. ( 29305734 )
2018
3
Burden of Illness in Acid Sphingomyelinase Deficiency: A Retrospective Chart Review of 100 Patients. ( 29995201 )
2018
4
The impact of biomarkers analysis in the diagnosis of Niemann-Pick C disease and acid sphingomyelinase deficiency. ( 30153451 )
2018
5
Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD). ( 30514648 )
2018
6
Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency. ( 28406489 )
2017
7
Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD). ( 28228103 )
2017
8
Acid sphingomyelinase deficiency in Western diet-fed mice protects against adipocyte hypertrophy and diet-induced liver steatosis. ( 28462076 )
2017
9
Limited benefits of presymptomatic cord blood transplantation in neurovisceral acid sphingomyelinase deficiency (ASMD) intermediate type. ( 28801223 )
2017
10
Corrigendum to &amp;quot;Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases&amp;quot; [Mol. Genet. Metab. 118 (2016) 206-213]. ( 29129654 )
2017
11
Acid sphingomyelinase deficiency enhances myelin repair after acute and chronic demyelination. ( 28582448 )
2017
12
Structural and functional analysis of the ASM p.Ala359Asp mutant that causes acid sphingomyelinase deficiency. ( 27659707 )
2016
13
Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases. ( 27198631 )
2016
14
Clearance of Hepatic Sphingomyelin by Olipudase Alfa Is Associated With Improvement in Lipid Profiles in Acid Sphingomyelinase Deficiency. ( 27340749 )
2016
15
Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency. ( 26049896 )
2015
16
Novel first-dose adverse drug reactions during a phase I trial of olipudase alfa (recombinant human acid sphingomyelinase) in adults with Niemann-Pick disease type B (acid sphingomyelinase deficiency). ( 25834946 )
2015
17
Reliable Assay of Acid Sphingomyelinase Deficiency with the Mutation Q292K by Tandem Mass Spectrometry. ( 25770139 )
2015
18
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
19
Liver and skin histopathology in adults with acid sphingomyelinase deficiency (Niemann-Pick disease type B). ( 22613999 )
2012
20
Acid sphingomyelinase deficiency contributes to resistance of scleroderma fibroblasts to Fas-mediated apoptosis. ( 22771321 )
2012
21
Optimization of a histopathological biomarker for sphingomyelin accumulation in acid sphingomyelinase deficiency. ( 22614361 )
2012
22
Acid sphingomyelinase deficiency attenuates bleomycin-induced lung inflammation and fibrosis in mice. ( 21063112 )
2010
23
Acid sphingomyelinase deficiency does not protect from graft-versus-host disease in transplant recipients with Niemann-Pick disease. ( 20075175 )
2010
24
Acid Sphingomyelinase Deficiency Prevents Diet-induced Hepatic Triacylglycerol Accumulation and Hyperglycemia in Mice. ( 19074137 )
2009
25
Acid sphingomyelinase deficiency protects from cisplatin-induced gastrointestinal damage. ( 18679423 )
2008
26
Acid sphingomyelinase deficiency: cardiac dysfunction and characteristic findings of the coronary arteries. ( 16601902 )
2006
27
Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease. ( 17011332 )
2006
28
Niemann-Pick type C disease: novel NPC1 mutations and characterization of the concomitant acid sphingomyelinase deficiency. ( 16143556 )
2006
29
Acid sphingomyelinase deficiency increases susceptibility to fatal alphavirus encephalomyelitis. ( 16943298 )
2006
30
Effects of acid sphingomyelinase deficiency on male germ cell development and programmed cell death. ( 15371271 )
2005
31
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
32
Niemann-Pick Disease versus acid sphingomyelinase deficiency. ( 11313707 )
2001
33
Acid sphingomyelinase deficiency in Beckwith Wiedemann syndrome. ( 11173664 )
2000
34
MRI in an unusually protracted neuronopathic variant of acid sphingomyelinase deficiency. ( 10206162 )
1999
35
Two novel mutations in patients with atypical phenotypes of acid sphingomyelinase deficiency. ( 9266408 )
1997
36
Molecular analysis of the acid sphingomyelinase deficiency in a family with an intermediate form of Niemann-Pick disease. ( 7762557 )
1995
37
Acid Sphingomyelinase Deficiency ( 20301544 )
1993
38
Molecular basis of acid sphingomyelinase deficiency in a patient with Niemann-Pick disease type A. ( 1718266 )
1991
39
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

Expression for Acid Sphingomyelinase Deficiency

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

Pathways for Acid Sphingomyelinase Deficiency

GO Terms for Acid Sphingomyelinase Deficiency

Cellular components related to Acid Sphingomyelinase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.43 FAS NPC1 SMPD1
2 extracellular exosome GO:0070062 9.33 FAS NPC1 SMPD1
3 lysosome GO:0005764 8.96 NPC1 SMPD1
4 membrane raft GO:0045121 8.62 FAS NPC1

Biological processes related to Acid Sphingomyelinase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of apoptotic process GO:0043065 8.96 FAS SMPD1
2 response to drug GO:0042493 8.62 NPC1 SMPD1

Molecular functions related to Acid Sphingomyelinase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 signaling receptor activity GO:0038023 8.96 FAS NPC1
2 transmembrane signaling receptor activity GO:0004888 8.62 FAS NPC1

Sources for Acid Sphingomyelinase Deficiency

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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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