Aliases & Classifications for Acid Sphingomyelinase Deficiency

MalaCards integrated aliases for Acid Sphingomyelinase Deficiency:

Name: Acid Sphingomyelinase Deficiency 25
Niemann-Pick Disease, Type a 74
Niemann-Pick Diseases 74

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 a, 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 drugs Miglustat and 1-Deoxynojirimycin have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and eye, and related phenotypes are liver/biliary system and reproductive system

Wikipedia : 77 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:

(showing 16, show less)
# Related Disease Score Top Affiliating Genes
1 niemann-pick disease 30.8 NPC1 SMPD1
2 niemann-pick disease, type a 30.3 NPC1 SMPD1
3 niemann-pick disease, type b 30.3 NPC1 SMPD1
4 beckwith-wiedemann syndrome 9.9
5 fish-eye disease 9.9
6 muscle hypertrophy 9.9
7 graft-versus-host disease 9.9
8 infantile liver failure syndrome 1 9.9
9 brain injury 9.9
10 lysosomal storage disease 9.9
11 systemic scleroderma 9.9
12 hyperglycemia 9.9
13 niemann-pick disease, type c2 9.9 NPC1 SMPD1
14 niemann-pick disease, type c1 9.8 NPC1 SMPD1
15 sphingolipidosis 9.7 NPC1 SMPD1
16 lipid storage disease 9.6 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:

47 (showing 3, show less)
# 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):

(showing 51, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miglustat Approved Phase 4,Phase 3,Phase 2,Phase 1 72599-27-0 51634
2
1-Deoxynojirimycin Investigational Phase 4,Phase 3,Phase 2 19130-96-2 1374
3 Cardiac Glycosides Phase 4,Phase 3,Phase 2,Phase 1
4 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
5 Antiviral Agents Phase 4,Phase 3,Phase 2,Phase 1
6 Anti-HIV Agents Phase 4,Phase 3,Phase 2,Phase 1
7 Anti-Retroviral Agents Phase 4,Phase 3,Phase 2,Phase 1
8 Hypoglycemic Agents Phase 4,Phase 3,Phase 2,Phase 1
9 Glycoside Hydrolase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
10
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
11
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
12
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
13
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
14
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
15
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
16
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
17 Prednisolone acetate Phase 2, Phase 3
18 Antineoplastic Agents, Alkylating Phase 2, Phase 3
19 Methylprednisolone Acetate Phase 2, Phase 3
20 Alkylating Agents Phase 2, Phase 3
21 Immunologic Factors Phase 2, Phase 3
22 Immunosuppressive Agents Phase 2, Phase 3
23 Antilymphocyte Serum Phase 2, Phase 3
24 Antirheumatic Agents Phase 2, Phase 3
25 Liver Extracts Phase 2, Phase 3,Phase 3,Phase 1
26 Pharmaceutical Solutions Phase 2, Phase 3,Phase 1
27
Vorinostat Approved, Investigational Phase 1, Phase 2 149647-78-9 5311
28
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
29
Lithium carbonate Approved Phase 1, Phase 2 554-13-2
30
alemtuzumab Approved, Investigational Phase 2 216503-57-0
31
Glycine Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 56-40-6 750
32
Betadex Experimental Phase 1, Phase 2,Phase 2 7585-39-9 320761
33
Emodepside Investigational, Vet_approved Phase 1, Phase 2 155030-63-0
34 Histone Deacetylase Inhibitors Phase 1, Phase 2
35 N-monoacetylcystine Phase 1, Phase 2
36 Free Radical Scavengers Phase 1, Phase 2
37 Antidotes Phase 1, Phase 2
38 Antioxidants Phase 1, Phase 2
39 Expectorants Phase 1, Phase 2
40 cysteine Phase 1, Phase 2
41 Respiratory System Agents Phase 1, Phase 2
42 Protective Agents Phase 1, Phase 2
43
Bilirubin Phase 1, Phase 2 635-65-4, 69853-43-6 21252250 5280352
44 Central Nervous System Depressants Phase 1, Phase 2
45 Antidepressive Agents Phase 1, Phase 2
46 Psychotropic Drugs Phase 1, Phase 2
47 Tranquilizing Agents Phase 1, Phase 2
48 Antimanic Agents Phase 1, Phase 2
49 leucine Phase 2
50 Antineoplastic Agents, Immunological Phase 2
51 Antiparasitic Agents Phase 1

Interventional clinical trials:

(showing 47, show less)
# Name Status NCT ID Phase Drugs
1 Safety and Efficacy of Miglustat in Chinese NPC Patients Not yet recruiting NCT03910621 Phase 4 Miglustat
2 Application of Miglustat in Patients With Niemann-Pick Type C Completed NCT01760564 Phase 3 Miglustat
3 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
4 Safety, Tolerability, Efficacy, Pharmacokinetics, and Pharmacodynamics of Sebelipase Alfa in Children With Growth Failure Due to Lysosomal Acid Lipase Deficiency Completed NCT01371825 Phase 2, Phase 3 Sebelipase alfa (SBC-102)
5 Effects of Miglustat Therapy on Infantile Type of Sandhoff and Taysachs Diseases (EMTISTD) Recruiting NCT03822013 Phase 3 Miglustat
6 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
7 Arimoclomol Prospective Study in Patients Diagnosed With NiemannPick Disease Type C Active, not recruiting NCT02612129 Phase 2, Phase 3 arimoclomol;Placebo
8 Study of VTS-270 (2-hydroxypropyl-β-cyclodextrin) to Treat Niemann-Pick Type C1 (NPC1) Disease Active, not recruiting NCT02534844 Phase 2, Phase 3 VTS-270;Sham Procedure Control
9 Open-label Study of VTS-270 in Participants With Neurologic Manifestations of Niemann-Pick Type C1 Not yet recruiting NCT03879655 Phase 2, Phase 3 VTS-270
10 ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases Terminated NCT00654433 Phase 3
11 Children With Lysosomal Acid Lipase Deficiency Who Previously Received Treatment With SBC-102 Terminated NCT01473875 Phase 2, Phase 3 SBC-102
12 Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1 Completed NCT02124083 Phase 1, Phase 2 Vorinostat
13 Miglustat in Niemann-Pick Type C Disease Completed NCT00517153 Phase 2 miglustat
14 Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine Completed NCT00975689 Phase 1, Phase 2 N-Acetyl Cysteine
15 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
16 Study of IV VTS-270 for Infantile Liver Disease Associated With Niemann-Pick Disease, Type C Recruiting NCT03471143 Phase 1, Phase 2 2-Hydroxypropyl-Beta-Cyclodextrin
17 Combined Intrathecal and Intravenous VTS-270 Therapy for Liver and Neurological Disease Associated With Niemann-Pick Disease, Type C1 Recruiting NCT03887533 Phase 1, Phase 2 VTS-270
18 Safety and Efficacy of Intravenous Trappsol Cyclo (HPBCD) in Niemann-Pick Type C Patients Recruiting NCT02912793 Phase 1, Phase 2 Hydroxypropyl-beta-cyclodextrin
19 Study of Lithium Carbonate to Treat Niemann-Pick Type C1 Disease Recruiting NCT03201627 Phase 1, Phase 2 Lithium Carbonate
20 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
21 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
22 Clinical Trial in Infants With Rapidly Progressive Lysosomal Acid Lipase Deficiency Active, not recruiting NCT02193867 Phase 2 sebelipase alfa
23 A Long-Term Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Enrolling by invitation NCT02004704 Phase 2 GZ402665
24 N-Acetyl-L-Leucine for Niemann-Pick Disease, Type C (NPC) Not yet recruiting NCT03759639 Phase 2 IB1001
25 Safety and Tolerability Study of VTS-270 in Pediatric Participants With Niemann-Pick Type C (NPC) Disease Not yet recruiting NCT03687476 Phase 2 VTS-270
26 Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
27 Tolerability and Safety Study of Recombinant Human Acid Sphingomyelinase in Acid Sphingomyelinase Deficiency Patients Completed NCT01722526 Phase 1 Recombinant human acid sphingomyelinase
28 Saccadic Eye Movements in Patients With Niemann-Pick Type C Disease Completed NCT00316498 Phase 1 OGT918
29 Hydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 Disease Completed NCT01747135 Phase 1 VTS-270
30 Open‐Label Study of Long‐Term Safety and Efficacy of Intravenous Trappsol Cyclo (HPβCD) in Niemann‐Pick Disease Type C Recruiting NCT03893071 Phase 1 Hydroxypropyl-β-cyclodextrin
31 Study of the Pharmacokinetics of Trappsol and Effects on Potential Biomarkers of Niemann-Pick C1 (NPC1) Recruiting NCT02939547 Phase 1 Hydroxypropyl-beta-cyclodextrin
32 UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
33 Human Placental-Derived Stem Cell Transplantation Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
34 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
35 Investigating Lysosomal Storage Diseases in Minority Groups Unknown status NCT02120235
36 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
37 Longitudinal Study of Cognition With Niemann-Pick Disease, Type C Completed NCT01899950
38 A Prospective Non-therapeutic Study in Patients Diagnosed With Niemann-Pick Disease Type C Completed NCT02435030
39 PET Scan of Brain Metabolism in Relation to Age and Disease Completed NCT00001972 15 O Water
40 Biomarker for Niemann Pick Type C Disease (BioNPC) Recruiting NCT01306604
41 Induced Pluripotent Stem Cells for Niemann Pick Disease Recruiting NCT03883750
42 Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C Recruiting NCT00344331
43 Molecular and Cellular Mechanisms of Lysosomal Storage Diseases Recruiting NCT02000310
44 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
45 Genetic Characterization of Movement Disorders and Dementias Recruiting NCT02014246
46 An Open-label Treatment Protocol for VTS-270 in Patients With Neurologic Manifestations of NPC Available NCT03643562 VTS270
47 Screening of Niemann-Pick Disease, Type C in a Psychiatric Population Terminated NCT02841358 Not Applicable

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:

42
Liver, Brain, Eye, Lung, Skin, Adipocyte

Publications for Acid Sphingomyelinase Deficiency

Articles related to Acid Sphingomyelinase Deficiency:

(showing 43, show less)
# Title Authors Year
1
Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD). ( 30514648 )
2019
2
Acid sphingomyelinase deficiency protects mitochondria and improves function recovery after brain injury. ( 30662008 )
2019
3
Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-up. ( 30795770 )
2019
4
Acid sphingomyelinase deficiency (Niemann‒Pick disease Type B) as an inflammatory disease. ( 30846233 )
2019
5
Homozygous pArg610del Mutation Unusually Associated With Severe Delay of Growth in 2 Acid Sphingomyelinase Deficiency-affected Sibs. ( 30870388 )
2019
6
Case Report of Gastrointestinal Bleeding in an Adult with Chronic Visceral Acid Sphingomyelinase Deficiency. ( 31080679 )
2019
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 )
2018
8
Olipudase alfa for treatment of acid sphingomyelinase deficiency (ASMD): safety and efficacy in adults treated for 30 months. ( 29305734 )
2018
9
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
10
Burden of Illness in Acid Sphingomyelinase Deficiency: A Retrospective Chart Review of 100 Patients. ( 29995201 )
2018
11
The impact of biomarkers analysis in the diagnosis of Niemann-Pick C disease and acid sphingomyelinase deficiency. ( 30153451 )
2018
12
Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD). ( 28228103 )
2017
13
Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency. ( 28406489 )
2017
14
Acid sphingomyelinase deficiency in Western diet-fed mice protects against adipocyte hypertrophy and diet-induced liver steatosis. ( 28462076 )
2017
15
Acid sphingomyelinase deficiency enhances myelin repair after acute and chronic demyelination. ( 28582448 )
2017
16
Limited benefits of presymptomatic cord blood transplantation in neurovisceral acid sphingomyelinase deficiency (ASMD) intermediate type. ( 28801223 )
2017
17
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 )
2016
18
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
19
Clearance of Hepatic Sphingomyelin by Olipudase Alfa Is Associated With Improvement in Lipid Profiles in Acid Sphingomyelinase Deficiency. ( 27340749 )
2016
20
Structural and functional analysis of the ASM p.Ala359Asp mutant that causes acid sphingomyelinase deficiency. ( 27659707 )
2016
21
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 )
2015
22
Reliable Assay of Acid Sphingomyelinase Deficiency with the Mutation Q292K by Tandem Mass Spectrometry. ( 25770139 )
2015
23
Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency. ( 26049896 )
2015
24
Liver and skin histopathology in adults with acid sphingomyelinase deficiency (Niemann-Pick disease type B). ( 22613999 )
2012
25
Optimization of a histopathological biomarker for sphingomyelin accumulation in acid sphingomyelinase deficiency. ( 22614361 )
2012
26
Acid sphingomyelinase deficiency contributes to resistance of scleroderma fibroblasts to Fas-mediated apoptosis. ( 22771321 )
2012
27
Acid sphingomyelinase deficiency does not protect from graft-versus-host disease in transplant recipients with Niemann-Pick disease. ( 20075175 )
2010
28
Acid sphingomyelinase deficiency attenuates bleomycin-induced lung inflammation and fibrosis in mice. ( 21063112 )
2010
29
Acid Sphingomyelinase Deficiency Prevents Diet-induced Hepatic Triacylglycerol Accumulation and Hyperglycemia in Mice. ( 19074137 )
2009
30
Acid sphingomyelinase deficiency protects from cisplatin-induced gastrointestinal damage. ( 18679423 )
2008
31
Niemann-Pick type C disease: novel NPC1 mutations and characterization of the concomitant acid sphingomyelinase deficiency. ( 16143556 )
2006
32
Acid sphingomyelinase deficiency: cardiac dysfunction and characteristic findings of the coronary arteries. ( 16601902 )
2006
33
Acid sphingomyelinase deficiency increases susceptibility to fatal alphavirus encephalomyelitis. ( 16943298 )
2006
34
Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease. ( 17011332 )
2006
35
Effects of acid sphingomyelinase deficiency on male germ cell development and programmed cell death. ( 15371271 )
2005
36
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
37
Niemann-Pick Disease versus acid sphingomyelinase deficiency. ( 11313707 )
2001
38
Acid sphingomyelinase deficiency in Beckwith Wiedemann syndrome. ( 11173664 )
2000
39
MRI in an unusually protracted neuronopathic variant of acid sphingomyelinase deficiency. ( 10206162 )
1999
40
Two novel mutations in patients with atypical phenotypes of acid sphingomyelinase deficiency. ( 9266408 )
1997
41
Molecular analysis of the acid sphingomyelinase deficiency in a family with an intermediate form of Niemann-Pick disease. ( 7762557 )
1995
42
Molecular basis of acid sphingomyelinase deficiency in a patient with Niemann-Pick disease type A. ( 1718266 )
1991
43
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:

(showing 4, show less)
# 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:

(showing 2, show less)
# 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:

(showing 2, show less)
# 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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