Aliases & Classifications for Acid Sphingomyelinase Deficiency

MalaCards integrated aliases for Acid Sphingomyelinase Deficiency:

Name: Acid Sphingomyelinase Deficiency 23
Niemann-Pick Disease, Type a 69
Niemann-Pick Diseases 69

External Ids:

UMLS 69 C0268242

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 a, and has symptoms including muscle weakness, vomiting and constipation. An important gene associated with Acid Sphingomyelinase Deficiency is SMPD1 (Sphingomyelin Phosphodiesterase 1), and among its related pathways/superpathways are BMP Pathway 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 : 72 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 14)
# Related Disease Score Top Affiliating Genes
1 niemann-pick disease 29.7 NPC1 SMPD1
2 niemann-pick disease, type a 10.1
3 niemann-pick disease, type b 10.1
4 hepatitis 10.0
5 beckwith-wiedemann syndrome 9.8
6 fibrosis of extraocular muscles, congenital, 1 9.8
7 graft-versus-host disease 9.8
8 infantile liver failure syndrome 1 9.8
9 lysosomal storage disease 9.8
10 hyperglycemia 9.8
11 non-langerhans-cell histiocytosis 9.6 NPC1 SMPD1
12 sphingolipidosis 9.6 NPC1 SMPD1
13 lymphatic system disease 9.5 NPC1 SMPD1
14 lipid storage disease 9.4 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, vomiting, constipation

MGI Mouse Phenotypes related to Acid Sphingomyelinase Deficiency:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.33 SMPD1 FAS NPC1
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 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 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:

38
Liver, Lung, Skin, Adipocyte, Bone, Brain, Bone Marrow

Publications for Acid Sphingomyelinase Deficiency

Articles related to Acid Sphingomyelinase Deficiency:

(show top 50) (show all 55)
# Title Authors Year
1
Olipudase alfa for treatment of acid sphingomyelinase deficiency (ASMD): safety and efficacy in adults treated for 30 months. ( 29305734 )
2018
2
Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency. ( 28406489 )
2017
3
Limited benefits of presymptomatic cord blood transplantation in neurovisceral acid sphingomyelinase deficiency (ASMD) intermediate type. ( 28801223 )
2017
4
Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD). ( 28228103 )
2017
5
Acid sphingomyelinase deficiency in Western diet-fed mice protects against adipocyte hypertrophy and diet-induced liver steatosis. ( 28462076 )
2017
6
Acid sphingomyelinase deficiency enhances myelin repair after acute and chronic demyelination. ( 28582448 )
2017
7
Corrigendum to "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" [Mol. Genet. Metab. 118 (2016) 206-213]. ( 29129654 )
2017
8
Structural and functional analysis of the ASM p.Ala359Asp mutant that causes acid sphingomyelinase deficiency. ( 27659707 )
2016
9
Clearance of Hepatic Sphingomyelin by Olipudase Alfa Is Associated With Improvement in Lipid Profiles in Acid Sphingomyelinase Deficiency. ( 27340749 )
2016
10
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
11
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
12
Reliable Assay of Acid Sphingomyelinase Deficiency with the Mutation Q292K by Tandem Mass Spectrometry. ( 25770139 )
2015
13
Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency. ( 26049896 )
2015
14
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
15
Cirrhosis and Liver Failure: Expanding Phenotype of Acid Sphingomyelinase-Deficient Niemann-Pick Disease in Adulthood. ( 24718843 )
2014
16
Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease. ( 23356216 )
2013
17
Optimization of a histopathological biomarker for sphingomyelin accumulation in acid sphingomyelinase deficiency. ( 22614361 )
2012
18
Liver and skin histopathology in adults with acid sphingomyelinase deficiency (Niemann-Pick disease type B). ( 22613999 )
2012
19
Acid sphingomyelinase deficiency contributes to resistance of scleroderma fibroblasts to Fas-mediated apoptosis. ( 22771321 )
2012
20
Acid sphingomyelinase deficiency does not protect from graft-versus-host disease in transplant recipients with Niemann-Pick disease. ( 20075175 )
2010
21
Acid sphingomyelinase deficiency attenuates bleomycin-induced lung inflammation and fibrosis in mice. ( 21063112 )
2010
22
Acid Sphingomyelinase Deficiency Prevents Diet-induced Hepatic Triacylglycerol Accumulation and Hyperglycemia in Mice. ( 19074137 )
2009
23
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
24
The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. ( 20040312 )
2009
25
Acid sphingomyelinase deficiency protects from cisplatin-induced gastrointestinal damage. ( 18679423 )
2008
26
Acid sphingomyelinase-deficient Niemann-Pick disease: novel findings in a Greek child. ( 17876723 )
2007
27
The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. ( 17632693 )
2007
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
Acid sphingomyelinase deficiency: cardiac dysfunction and characteristic findings of the coronary arteries. ( 16601902 )
2006
31
Imprinting at the SMPD1 locus: implications for acid sphingomyelinase-deficient Niemann-Pick disease. ( 16642440 )
2006
32
Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease. ( 17011332 )
2006
33
Effects of acid sphingomyelinase deficiency on male germ cell development and programmed cell death. ( 15371271 )
2005
34
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
35
Mannose 6-phosphate receptor-mediated uptake is defective in acid sphingomyelinase-deficient macrophages: implications for Niemann-Pick disease enzyme replacement therapy. ( 14557264 )
2004
36
Alveolar lipoproteinosis in an acid sphingomyelinase-deficient mouse model of Niemann-Pick disease. ( 12495943 )
2003
37
Reproductive pathology and sperm physiology in acid sphingomyelinase-deficient mice. ( 12213735 )
2002
38
Intracerebral transplantation of mesenchymal stem cells into acid sphingomyelinase-deficient mice delays the onset of neurological abnormalities and extends their life span. ( 11994407 )
2002
39
Apoptosis and signalling in acid sphingomyelinase deficient cells. ( 11722792 )
2001
40
Niemann-Pick Disease versus acid sphingomyelinase deficiency. ( 11313707 )
2001
41
Analysis of the lung pathology and alveolar macrophage function in the acid sphingomyelinase--deficient mouse model of Niemann-Pick disease. ( 11454988 )
2001
42
Acid sphingomyelinase deficiency in Beckwith Wiedemann syndrome. ( 11173664 )
2000
43
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
44
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
45
MRI in an unusually protracted neuronopathic variant of acid sphingomyelinase deficiency. ( 10206162 )
1999
46
[Niemann-Pick disease [type A and B] (acid sphingomyelinase deficiencies)]. ( 9645083 )
1998
47
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
48
Two novel mutations in patients with atypical phenotypes of acid sphingomyelinase deficiency. ( 9266408 )
1997
49
Acid sphingomyelinase-deficient human lymphoblasts and mice are defective in radiation-induced apoptosis. ( 8706124 )
1996
50
Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick disease. ( 7670466 )
1995

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 9.33 FAS NPC1 SMPD1
2 lysosome GO:0005764 8.96 NPC1 SMPD1
3 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 9.16 FAS SMPD1
2 signal transduction GO:0007165 9.13 FAS NPC1 SMPD1
3 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 transmembrane signaling receptor activity GO:0004888 8.96 FAS NPC1
2 receptor activity GO:0004872 8.62 FAS NPC1

Sources for Acid Sphingomyelinase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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67 TGDB
68 Tocris
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70 UMLS via Orphanet
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