MCID: ACD003
MIFTS: 33

Acid Sphingomyelinase Deficiency malady

Categories: Genetic diseases

Aliases & Classifications for Acid Sphingomyelinase Deficiency

Aliases & Descriptions for Acid Sphingomyelinase Deficiency:

Name: Acid Sphingomyelinase Deficiency 23 24
Niemann-Pick Disease, Type a 69
Niemann-Pick Diseases 69

Classifications:



Summaries for Acid Sphingomyelinase Deficiency

MalaCards based summary : Acid Sphingomyelinase Deficiency, also known as niemann-pick disease, type a, is related to pick disease and niemann-pick disease, and has symptoms including constipation, vomiting and muscle weakness. 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 drugs Pharmaceutical Solutions and Liver Extracts have been mentioned in the context of this disorder. Affiliated tissues include lung, liver and bone, and related phenotypes are liver/biliary system and reproductive system

Wikipedia : 71 Acid sphingomyelinase is one of the enzymes that make up the sphingomyelinase (SMase) family,... more...

GeneReviews: NBK1370

Related Diseases for Acid Sphingomyelinase Deficiency

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:


constipation, vomiting, muscle weakness

MGI Mouse Phenotypes related to Acid Sphingomyelinase Deficiency:

44
id 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):

(show all 12)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 2, Phase 3,Phase 1
2 Liver Extracts Phase 2, Phase 3
3
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
4 N-monoacetylcystine Phase 1, Phase 2
5 Expectorants Phase 1, Phase 2
6 Anti-Infective Agents Phase 1, Phase 2
7 Protective Agents Phase 1, Phase 2
8 Antidotes Phase 1, Phase 2
9 Respiratory System Agents Phase 1, Phase 2
10 Antiviral Agents Phase 1, Phase 2
11 Antioxidants Phase 1, Phase 2
12 cysteine Nutraceutical Phase 1, Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 Efficacy, Safety, Pharmacodynamic, and Pharmacokinetics Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Recruiting NCT02004691 Phase 2, Phase 3
2 SurVival of Lysosomal Acid Lipase Deficiency (LAL-D) Infants Treated With SebelipAse aLfa Active, not recruiting NCT01371825 Phase 2, Phase 3
3 Children With Lysosomal Acid Lipase Deficiency Who Previously Received Treatment With SBC-102 Terminated NCT01473875 Phase 2, Phase 3
4 Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine Completed NCT00975689 Phase 1, Phase 2
5 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
6 Clinical Trial in Infants With Rapidly Progressive Lysosomal Acid Lipase Deficiency Active, not recruiting NCT02193867 Phase 2
7 A Long-Term Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Enrolling by invitation NCT02004704 Phase 2
8 Tolerability and Safety Study of Recombinant Human Acid Sphingomyelinase in Acid Sphingomyelinase Deficiency Patients Completed NCT01722526 Phase 1
9 Safety Study of rhASM Enzyme Replacement Therapy in Adults With Acid Sphingomyelinase Deficiency (Niemann-Pick Disease) Terminated NCT00410566 Phase 1
10 PET Scan of Brain Metabolism in Relation to Age and Disease Completed NCT00001972

Search NIH Clinical Center for Acid Sphingomyelinase Deficiency

Genetic Tests for Acid Sphingomyelinase Deficiency

Genetic tests related to Acid Sphingomyelinase Deficiency:

id Genetic test Affiliating Genes
1 Acid Sphingomyelinase Deficiency 24 SMPD1

Anatomical Context for Acid Sphingomyelinase Deficiency

MalaCards organs/tissues related to Acid Sphingomyelinase Deficiency:

39
Lung, Liver, Bone, Skin, Bone Marrow, Brain

Publications for Acid Sphingomyelinase Deficiency

Articles related to Acid Sphingomyelinase Deficiency:

(show all 48)
id Title Authors Year
1
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
2
Structural and functional analysis of the ASM p.Ala359Asp mutant that causes acid sphingomyelinase deficiency. ( 27659707 )
2016
3
Clearance of Hepatic Sphingomyelin by Olipudase Alfa Is Associated With Improvement in Lipid Profiles in Acid Sphingomyelinase Deficiency. ( 27340749 )
2016
4
Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency. ( 26049896 )
2015
5
Reliable Assay of Acid Sphingomyelinase Deficiency with the Mutation Q292K by Tandem Mass Spectrometry. ( 25770139 )
2015
6
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
7
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
8
Cirrhosis and Liver Failure: Expanding Phenotype of Acid Sphingomyelinase-Deficient Niemann-Pick Disease in Adulthood. ( 24718843 )
2014
9
Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease. ( 23356216 )
2013
10
Liver and skin histopathology in adults with acid sphingomyelinase deficiency (Niemann-Pick disease type B). ( 22613999 )
2012
11
Optimization of a histopathological biomarker for sphingomyelin accumulation in acid sphingomyelinase deficiency. ( 22614361 )
2012
12
Acid sphingomyelinase deficiency contributes to resistance of scleroderma fibroblasts to Fas-mediated apoptosis. ( 22771321 )
2012
13
Acid sphingomyelinase deficiency does not protect from graft-versus-host disease in transplant recipients with Niemann-Pick disease. ( 20075175 )
2010
14
Acid sphingomyelinase deficiency attenuates bleomycin-induced lung inflammation and fibrosis in mice. ( 21063112 )
2010
15
Acid Sphingomyelinase Deficiency Prevents Diet-induced Hepatic Triacylglycerol Accumulation and Hyperglycemia in Mice. ( 19074137 )
2009
16
The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. ( 20040312 )
2009
17
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
18
Acid sphingomyelinase deficiency protects from cisplatin-induced gastrointestinal damage. ( 18679423 )
2008
19
Acid sphingomyelinase-deficient Niemann-Pick disease: novel findings in a Greek child. ( 17876723 )
2007
20
The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. ( 17632693 )
2007
21
Acid sphingomyelinase deficiency increases susceptibility to fatal alphavirus encephalomyelitis. ( 16943298 )
2006
22
Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease. ( 17011332 )
2006
23
Imprinting at the SMPD1 locus: implications for acid sphingomyelinase-deficient Niemann-Pick disease. ( 16642440 )
2006
24
Niemann-Pick type C disease: novel NPC1 mutations and characterization of the concomitant acid sphingomyelinase deficiency. ( 16143556 )
2006
25
Acid sphingomyelinase deficiency: cardiac dysfunction and characteristic findings of the coronary arteries. ( 16601902 )
2006
26
Effects of acid sphingomyelinase deficiency on male germ cell development and programmed cell death. ( 15371271 )
2005
27
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
28
Mannose 6-phosphate receptor-mediated uptake is defective in acid sphingomyelinase-deficient macrophages: implications for Niemann-Pick disease enzyme replacement therapy. ( 14557264 )
2004
29
Alveolar lipoproteinosis in an acid sphingomyelinase-deficient mouse model of Niemann-Pick disease. ( 12495943 )
2003
30
Reproductive pathology and sperm physiology in acid sphingomyelinase-deficient mice. ( 12213735 )
2002
31
Intracerebral transplantation of mesenchymal stem cells into acid sphingomyelinase-deficient mice delays the onset of neurological abnormalities and extends their life span. ( 11994407 )
2002
32
Niemann-Pick Disease versus acid sphingomyelinase deficiency. ( 11313707 )
2001
33
Analysis of the lung pathology and alveolar macrophage function in the acid sphingomyelinase--deficient mouse model of Niemann-Pick disease. ( 11454988 )
2001
34
Apoptosis and signalling in acid sphingomyelinase deficient cells. ( 11722792 )
2001
35
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
36
Acid sphingomyelinase deficiency in Beckwith Wiedemann syndrome. ( 11173664 )
2000
37
MRI in an unusually protracted neuronopathic variant of acid sphingomyelinase deficiency. ( 10206162 )
1999
38
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
39
[Niemann-Pick disease [type A and B] (acid sphingomyelinase deficiencies)]. ( 9645083 )
1998
40
Two novel mutations in patients with atypical phenotypes of acid sphingomyelinase deficiency. ( 9266408 )
1997
41
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
42
Acid sphingomyelinase-deficient human lymphoblasts and mice are defective in radiation-induced apoptosis. ( 8706124 )
1996
43
Molecular analysis of the acid sphingomyelinase deficiency in a family with an intermediate form of Niemann-Pick disease. ( 7762557 )
1995
44
Acid sphingomyelinase-deficient mice mimic the neurovisceral form of human lysosomal storage disease (Niemann-Pick disease). ( 7600574 )
1995
45
Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick disease. ( 7670466 )
1995
46
Acid Sphingomyelinase Deficiency ( 20301544 )
1993
47
Molecular basis of acid sphingomyelinase deficiency in a patient with Niemann-Pick disease type A. ( 1718266 )
1991
48
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:

id Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 8.96 NPC1 SMPD1
2 membrane raft GO:0045121 8.62 FAS NPC1

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

id Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.33 FAS NPC1 SMPD1
2 positive regulation of apoptotic process GO:0043065 8.96 FAS SMPD1
3 response to drug GO:0042493 8.62 NPC1 SMPD1

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

id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....