Aliases & Classifications for Acid Sphingomyelinase Deficiency

MalaCards integrated aliases for Acid Sphingomyelinase Deficiency:

Name: Acid Sphingomyelinase Deficiency 24
Niemann-Pick Disease, Type a 72
Niemann-Pick Diseases 72

External Ids:

UMLS 72 C0028064 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, 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 bone, and related phenotypes are liver/biliary system and reproductive system

Wikipedia : 75 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 54, show less)
# Related Disease Score Top Affiliating Genes
1 niemann-pick disease 30.8 SMPD1 NPC1
2 niemann-pick disease, type a 30.7 SMPD1 NPC1
3 niemann-pick disease, type b 30.3 SMPD1 NPC1
4 niemann-pick disease, type c1 29.5 SMPD1 NPC1
5 splenomegaly 10.3
6 lysosomal storage disease 10.3
7 interstitial lung disease 10.2
8 lung disease 10.2
9 respiratory failure 10.2
10 varicose veins 10.1
11 idiopathic interstitial pneumonia 10.1
12 pulmonary fibrosis 10.1
13 peripheral nervous system disease 10.1
14 inherited metabolic disorder 10.1
15 neuropathy 10.1
16 beckwith-wiedemann syndrome 9.9
17 gilbert syndrome 9.9
18 hypercholesterolemia, familial, 1 9.9
19 macroglossia 9.9
20 hemihyperplasia, isolated 9.9
21 ataxia and polyneuropathy, adult-onset 9.9
22 graft-versus-host disease 9.9
23 leukemia, acute lymphoblastic 3 9.9
24 autosomal recessive disease 9.9
25 ischemic colitis 9.9
26 inguinal hernia 9.9
27 non-alcoholic fatty liver disease 9.9
28 portal hypertension 9.9
29 mitral valve insufficiency 9.9
30 amenorrhea 9.9
31 toxic shock syndrome 9.9
32 polyclonal hypergammaglobulinemia 9.9
33 bilirubin metabolic disorder 9.9
34 lipid metabolism disorder 9.9
35 demyelinating disease 9.9
36 embryonal rhabdomyosarcoma 9.9
37 rhabdomyosarcoma 9.9
38 systemic scleroderma 9.9
39 hyperglycemia 9.9
40 liver cirrhosis 9.9
41 aortic valve insufficiency 9.9
42 hypersplenism 9.9
43 polyhydramnios 9.9
44 learning disability 9.9
45 fatty liver disease 9.9
46 pathologic nystagmus 9.9
47 alopecia 9.9
48 gigantism 9.9
49 growth hormone deficiency 9.9
50 brain injury 9.9
51 traumatic brain injury 9.9
52 niemann-pick disease, type c2 9.8 SMPD1 NPC1
53 sphingolipidosis 9.7 SMPD1 NPC1
54 lipid storage disease 9.4 SMPD1 NPC1

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

Interventional clinical trials:

(showing 42, show less)
# Name Status NCT ID Phase Drugs
1 A Single Arm Uncontrolled 12 Months Clinical Study to Evaluate the Safety and Efficacy of Miglustat (Zavesca) for the Treatment of Niemann Pick Type C Disease (NPC) in Chinese Subjects Not yet recruiting NCT03910621 Phase 4 Miglustat
2 Application of Miglustat in Patients With Niemann-Pick Type C Completed NCT01760564 Phase 3 Miglustat
3 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Bone Marrow Transplantation Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
4 Survey of Miglustat Therapeutic Effects on Neurological and Systemic Symptoms of Infantile Type of Sandhoff and Taysachs Diseases Recruiting NCT03822013 Phase 3 Miglustat
5 A Phase 2/3, Multicenter, Randomized, Double-blinded, Placebo-controlled, Repeat-dose Study to Evaluate the Efficacy, Safety, Pharmacodynamics, and Pharmacokinetics of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Active, not recruiting NCT02004691 Phase 2, Phase 3 placebo (saline);GZ402665
6 A Phase 2b/3 Prospective, Randomized, Double-Blind, Sham-Controlled 3-Part Trial of VTS-270 (2-hydroxypropyl-β-cyclodextrin) in Subjects With Neurologic Manifestations of Niemann-Pick Type C1 (NPC1) Disease Active, not recruiting NCT02534844 Phase 2, Phase 3 VTS-270;Sham Procedure Control
7 Arimoclomol Prospective Doubleblind, Randomised, Placebo-controlled Study in Patients Diagnosed With NiemannPick Disease Type C Active, not recruiting NCT02612129 Phase 2, Phase 3 arimoclomol;Placebo
8 A Phase 2b/3 Open-label Trial of VTS-270 (2-hydroxypropyl-β-cyclodextrin) in Subjects With Neurologic Manifestations of Niemann-Pick Type C1 Disease Previously Treated Under Protocol VTS301 Not yet recruiting NCT03879655 Phase 2, Phase 3 VTS-270
9 A Phase II Randomized Controlled Study of Miglustat in Adult and Juvenile Patients With Niemann-Pick Type C Disease Completed NCT00517153 Phase 2 miglustat
10 Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1 Completed NCT02124083 Phase 1, Phase 2 Vorinostat
11 Phase I/II Trial Of Hematopoietic Stem Cell Transplant (HSCT) For Children With A Genetic Disease Of Blood Cells Without An HLA-Matched Sibling Donor Completed NCT00730314 Phase 1, Phase 2
12 Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine Completed NCT00975689 Phase 1, Phase 2 N-Acetyl Cysteine
13 a Single-center, Prospective, Open, and Non-randomized Case-control Study of Lithium Carbonate Effect on Niemann Disease C1 Type Recruiting NCT03201627 Phase 1, Phase 2 Lithium Carbonate
14 Effects of N-Acetyl-L-Leucine on Niemann Pick Type C Disease: A Multinational, Multicenter, Open-label, Rater-blinded Phase II Study. Recruiting NCT03759639 Phase 2 IB1001
15 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
16 Phase 1/2a Study of 2-Hydroxypropyl-Beta-Cyclodextrin Therapy for Infantile Liver Disease Associated With Niemann-Pick Disease, Type C Recruiting NCT03471143 Phase 1, Phase 2 2-Hydroxypropyl-Beta-Cyclodextrin
17 A Phase I/II Study to Evaluate the Safety and PK of iv Trappsol Cyclo (HP-β-CD) in Patients With Niemann-Pick Disease Type C NPC-1 and the Pharmacodynamic Effects of Treatment Upon Markers of Cholesterol Metabolism and Clinical Outcomes Recruiting NCT02912793 Phase 1, Phase 2 Hydroxypropyl-beta-cyclodextrin
18 A Phase 1/2, Multi-Center, Open-Label, Ascending Dose Study to Evaluate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Exploratory Efficacy of Olipudase Alfa in Pediatric Patients Aged <18 Years With Acid Sphingomyelinase Deficiency Active, not recruiting NCT02292654 Phase 1, Phase 2 Olipudase alfa
19 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
20 A Long-Term Study to Assess the Ongoing Safety and Efficacy of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Enrolling by invitation NCT02004704 Phase 2 GZ402665
21 An Open-label, Multicenter Safety and Tolerability Study of VTS-270 (2-hydroxypropyl-β-cyclodextrin) in Pediatric Subjects Aged < 4 Years With Neurologic Manifestations of Niemann-Pick Type C (NPC) Disease Not yet recruiting NCT03687476 Phase 2 VTS-270
22 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Hematopoietic Cell Transplantation Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
23 An Open-label, Multicenter, Ascending Dose Study of the Tolerability and Safety of Recombinant Human Acid Sphingomyelinase (rhASM) in Patients With Acid Sphingomyelinase Deficiency (ASMD) Completed NCT01722526 Phase 1 Recombinant human acid sphingomyelinase
24 A Phase I/II Randomized, Controlled Study of OGT 918 in Adult and Juvenile Patients With Niemann Pick C Disease Completed NCT00316498 Phase 1 OGT918
25 Hydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 Disease Completed NCT01747135 Phase 1 VTS-270
26 An Open‐Label Extension Study of the Long‐Term Safety and Efficacy of Intravenous Trappsol® Cyclo (HP‐β‐CD) in Patients With Niemann‐Pick Disease Type C (NPC‐1) Recruiting NCT03893071 Phase 1 Hydroxypropyl-β-cyclodextrin
27 Augmentation of Umbilical Cord Blood Transplantation for Inherited Metabolic Diseases With Intrathecal Administration of Human Umbilical Cord Blood-Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
28 A Phase I Study to Evaluate the Single and Multiple-dose Pharmacokinetics of Intravenous Trappsol Cyclo (HP-Beta-CD) in Patients With Niemann-Pick Disease Type C (NPC-1) and the Effects of Dosing Upon Biomarkers of NPC Disease Recruiting NCT02939547 Phase 1 Hydroxypropyl-beta-cyclodextrin
29 A Single-Arm Study to Assess the Safety of Transplantation With Human Placental-Derived Stem-Cells Combined With Unrelated and Related Cord Blood in Subjects With Certain Malignant Hematologic Diseases and Non-Malignant Disorders Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
30 A Phase I, Single-Center, Single Dose, Dose Escalation Study of Recombinant Human Acid Sphingomyelinase (rhASM) in Adults With Acid Sphingomyelinase Deficiency (ASMD) Terminated NCT00410566 Phase 1 rhASM;rhASM;rhASM;rhASM;rhASM
31 Investigating Lysosomal Storage Diseases in Minority Groups Unknown status NCT02120235
32 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
33 A Prospective Non-therapeutic Study in Patients Diagnosed With Niemann-Pick Disease Type C in Order to Characterise the Individual Patient Disease Profile and Historic Signo-symptomatology Progression Pattern Completed NCT02435030
34 Longitudinal Study of Cognition With Niemann-Pick Disease, Type C Completed NCT01899950
35 Positron Emission Tomography Imaging of Human Brain Phospholipid Metabolism in Relation to Age and Disease Completed NCT00001972 15 O Water
36 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
37 Induced Pluripotent Stem Cells for the Development of Novel Drug Therapies for Hepatic and Neurological Niemann Pick Disease Recruiting NCT03883750
38 Biomarker for Niemann Pick Type C Disease (NPC1/NPC2) an International, Multicenter, Epidemiological Study Recruiting NCT01306604
39 Genetic Characterization of Movement Disorders and Dementias Recruiting NCT02014246
40 Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C Recruiting NCT00344331
41 An Open-label Expanded Access Treatment Protocol for VTS-270 (2-hydroxypropyl-β-cyclodextrin) in Patients With Neurologic Manifestations of Niemann-Pick Type C Disease (NPC) Available NCT03643562 VTS270
42 Study Qbout the Screening of Niemann-Pick Disease, Type C in a Psychiatric Population Terminated NCT02841358

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, Brain, Bone, Bone Marrow, Lung, Spleen, Adipocyte

Publications for Acid Sphingomyelinase Deficiency

Articles related to Acid Sphingomyelinase Deficiency:

(showing 120, show less)
# Title Authors PMID Year
1
Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency. 38 4
26049896 2015
2
Skeletal manifestations in pediatric and adult patients with Niemann Pick disease type B. 38 4
22718274 2013
3
Liver and skin histopathology in adults with acid sphingomyelinase deficiency (Niemann-Pick disease type B). 38 4
22613999 2012
4
Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease. 38 4
17011332 2006
5
Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study. 38 4
15877209 2005
6
The natural history of type B Niemann-Pick disease: results from a 10-year longitudinal study. 38 4
15545621 2004
7
Lipid abnormalities in children with types A and B Niemann Pick disease. 38 4
15238911 2004
8
MRI in an unusually protracted neuronopathic variant of acid sphingomyelinase deficiency. 38 4
10206162 1999
9
Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B. 4
25920558 2016
10
Morbidity and mortality in type B Niemann-Pick disease. 4
23412609 2013
11
A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B. 4
18625664 2008
12
The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. 4
17632693 2007
13
Imprinting at the SMPD1 locus: implications for acid sphingomyelinase-deficient Niemann-Pick disease. 4
16642440 2006
14
Type B Niemann-Pick disease: findings at chest radiography, thin-section CT, and pulmonary function testing. 4
16304086 2006
15
Natural history of Type A Niemann-Pick disease: possible endpoints for therapeutic trials. 4
16434659 2006
16
Successful hematopoietic stem cell transplantation for Niemann-Pick disease type B. 4
16199719 2005
17
A new fluorimetric enzyme assay for the diagnosis of Niemann-Pick A/B, with specificity of natural sphingomyelinase substrate. 4
16151905 2005
18
Ocular manifestations of Niemann-Pick disease type B. 4
15234149 2004
19
Niemann-Pick disease type A and B are clinically but also enzymatically heterogeneous: pitfall in the laboratory diagnosis of sphingomyelinase deficiency associated with the mutation Q292 K. 4
14681755 2003
20
Growth restriction in children with type B Niemann-Pick disease. 4
12712061 2003
21
The R608del mutation in the acid sphingomyelinase gene (SMPD1) is the most prevalent among patients from Gran Canaria Island with Niemann-Pick disease type B. 4
12694237 2003
22
The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations. 4
12369017 2002
23
Long-term survival after liver transplantation in children with metabolic disorders. 4
12234269 2002
24
Successful treatment of endogenous lipoid pneumonia due to Niemann-Pick Type B disease with whole-lung lavage. 4
11779742 2002
25
Pulmonary involvement in Niemann-Pick disease: case report and literature review. 4
11192962 2000
26
Prevalence of lysosomal storage disorders. 4
9918480 1999
27
Plasma and dried blood spot lysosphingolipids for the diagnosis of different sphingolipidoses: a comparative study. 38
31091195 2019
28
Acid sphingomyelinase deficiency (Niemann‒Pick disease Type B) as an inflammatory disease. 38
30846233 2019
29
Respiratory impairment in Niemann-Pick B disease: Two case reports and review for the pulmonologist. 38
31254945 2019
30
Acid sphingomyelinase deficiency protects mitochondria and improves function recovery after brain injury. 38
30662008 2019
31
Homozygous pArg610del Mutation Unusually Associated With Severe Delay of Growth in 2 Acid Sphingomyelinase Deficiency-affected Sibs. 38
30870388 2019
32
Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD). 38
30514648 2019
33
Mitochondrial biogenesis is transcriptionally repressed in lysosomal lipid storage diseases. 38
30775969 2019
34
Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-up. 38
30795770 2019
35
Case Report of Gastrointestinal Bleeding in an Adult with Chronic Visceral Acid Sphingomyelinase Deficiency. 38
31080679 2019
36
Niemann-Pick Diseases: The Largest Iranian Cohort with Genetic Analysis. 38
31037088 2019
37
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]. 38
29129654 2018
38
The impact of biomarkers analysis in the diagnosis of Niemann-Pick C disease and acid sphingomyelinase deficiency. 38
30153451 2018
39
Olipudase alfa for treatment of acid sphingomyelinase deficiency (ASMD): safety and efficacy in adults treated for 30 months. 38
29305734 2018
40
Quantitative Systems Pharmacology Modeling of Acid Sphingomyelinase Deficiency and the Enzyme Replacement Therapy Olipudase Alfa Is an Innovative Tool for Linking Pathophysiology and Pharmacology. 38
29920993 2018
41
Rapid screening for lipid storage disorders using biochemical markers. Expert center data and review of the literature. 38
29290526 2018
42
Burden of Illness in Acid Sphingomyelinase Deficiency: A Retrospective Chart Review of 100 Patients. 38
29995201 2018
43
Limited benefits of presymptomatic cord blood transplantation in neurovisceral acid sphingomyelinase deficiency (ASMD) intermediate type. 38
28801223 2017
44
Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency. 38
28406489 2017
45
Enhanced Delivery and Effects of Acid Sphingomyelinase by ICAM-1-Targeted Nanocarriers in Type B Niemann-Pick Disease Mice. 38
28606376 2017
46
Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases. 38
28259515 2017
47
Acid sphingomyelinase deficiency in Western diet-fed mice protects against adipocyte hypertrophy and diet-induced liver steatosis. 38
28462076 2017
48
[Acid sphingomyelinase deficiency (Niemann-Pick disease type B) in adulthood: A retrospective multicentric study of 28 adult cases]. 38
27884455 2017
49
Lipids regulate the hydrolysis of membrane bound glucosylceramide by lysosomal β-glucocerebrosidase. 38
28126847 2017
50
Diagnosis of sphingolipidoses: a new simultaneous measurement of lysosphingolipids by LC-MS/MS. 38
27533120 2017
51
Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD). 38
28228103 2017
52
Acid sphingomyelinase deficiency enhances myelin repair after acute and chronic demyelination. 38
28582448 2017
53
Structural and functional analysis of the ASM p.Ala359Asp mutant that causes acid sphingomyelinase deficiency. 38
27659707 2016
54
Clearance of Hepatic Sphingomyelin by Olipudase Alfa Is Associated With Improvement in Lipid Profiles in Acid Sphingomyelinase Deficiency. 38
27340749 2016
55
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. 38
27198631 2016
56
Excess sphingomyelin disturbs ATG9A trafficking and autophagosome closure. 38
27070082 2016
57
Seven novel mutations of the SMPD1 gene in four Chinese patients with Niemann-Pick disease type A and prenatal diagnosis for four fetuses. 38
26851525 2016
58
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). 38
25834946 2016
59
Role of Janus-Kinases in Major Depressive Disorder. 38
27487096 2016
60
Focused metabolomics using liquid chromatography/electrospray ionization tandem mass spectrometry for analysis of urinary conjugated cholesterol metabolites from patients with Niemann-Pick disease type C and 3β-hydroxysteroid dehydrogenase deficiency. 38
25575700 2015
61
[Acid sphingomyelinase deficiency and spleen trauma: splenectomy or not splenectomy?]. 38
25479761 2015
62
LC-MS/MS based assay and reference intervals in children and adolescents for oxysterols elevated in Niemann-Pick diseases. 38
25819840 2015
63
Reliable Assay of Acid Sphingomyelinase Deficiency with the Mutation Q292K by Tandem Mass Spectrometry. 38
25770139 2015
64
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. 38
25092414 2015
65
Lack of Acid Sphingomyelinase Induces Age-Related Retinal Degeneration. 38
26168297 2015
66
From sheep to mice to cells: tools for the study of the sphingolipidoses. 38
24607565 2014
67
Two siblings with Niemann-Pick disease (NPD) type B: clinical findings and novel mutations of the acid sphingomyelinase gene. 38
22367733 2013
68
Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease. 38
23356216 2013
69
Niemann-Pick diseases. 38
23622394 2013
70
Acid sphingomyelinase deficiency contributes to resistance of scleroderma fibroblasts to Fas-mediated apoptosis. 38
22771321 2012
71
Optimization of a histopathological biomarker for sphingomyelin accumulation in acid sphingomyelinase deficiency. 38
22614361 2012
72
Gaucher disease and other storage disorders. 38
23233555 2012
73
Biotherapeutic target or sink: analysis of the macrophage mannose receptor tissue distribution in murine models of lysosomal storage diseases. 38
21416197 2011
74
Multivesicular bodies in neurons: distribution, protein content, and trafficking functions. 38
21216273 2011
75
Lysosomal storage diseases as differential diagnosis of hepatosplenomegaly. 38
20955964 2010
76
Respiratory disease in Niemann-Pick type C2 is caused by pulmonary alveolar proteinosis. 38
20002450 2010
77
Acid sphingomyelinase deficiency does not protect from graft-versus-host disease in transplant recipients with Niemann-Pick disease. 38
20075175 2010
78
Acid sphingomyelinase deficiency attenuates bleomycin-induced lung inflammation and fibrosis in mice. 38
21063112 2010
79
Use of complementary and alternative medicine by patients with lysosomal storage diseases. 38
19745751 2009
80
Acid Sphingomyelinase Deficiency Prevents Diet-induced Hepatic Triacylglycerol Accumulation and Hyperglycemia in Mice. 38
19074137 2009
81
Rapid quantification of miglustat in human plasma and cerebrospinal fluid by liquid chromatography coupled with tandem mass spectrometry. 38
19095507 2009
82
Acid sphingomyelinase deficiency protects from cisplatin-induced gastrointestinal damage. 38
18679423 2008
83
Altered lipid metabolism in brain injury and disorders. 38
18751914 2008
84
Lung disease in Niemann-Pick disease. 38
17969000 2007
85
[Niemann-Pick diseases in adults]. 38
17961863 2007
86
Acid Sphingomyelinase Deficiency 38
20301544 2006
87
Acid sphingomyelinase deficiency increases susceptibility to fatal alphavirus encephalomyelitis. 38
16943298 2006
88
Subclinical course of adult visceral Niemann-Pick type C1 disease. A rare or underdiagnosed disorder? 38
16802107 2006
89
Lipids and lipidomics in brain injury and diseases. 38
16796382 2006
90
Niemann-Pick type C disease: novel NPC1 mutations and characterization of the concomitant acid sphingomyelinase deficiency. 38
16143556 2006
91
Acid sphingomyelinase deficiency: cardiac dysfunction and characteristic findings of the coronary arteries. 38
16601902 2006
92
AAV8-mediated hepatic expression of acid sphingomyelinase corrects the metabolic defect in the visceral organs of a mouse model of Niemann-Pick disease. 38
16099409 2005
93
Effects of acid sphingomyelinase deficiency on male germ cell development and programmed cell death. 38
15371271 2005
94
Biochemical characterization of chitotriosidase enzyme: comparison between normal individuals and patients with Gaucher and with Niemann-Pick diseases. 38
15369720 2004
95
Prenatal diagnosis of Niemann-Pick diseases types A, B and C. 38
12124701 2002
96
Gaucher and Niemann-Pick diseases--enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards. 38
11814475 2002
97
Niemann-Pick Disease versus acid sphingomyelinase deficiency. 38
11313707 2001
98
Permeability barrier disorder in Niemann-Pick disease: sphingomyelin-ceramide processing required for normal barrier homeostasis. 38
10951284 2000
99
Acid sphingomyelinase deficiency in Beckwith Wiedemann syndrome. 38
11173664 2000
100
Signaling in and regulation of ionizing radiation-induced apoptosis in endothelial cells. 38
9769704 1998
101
Two novel mutations in patients with atypical phenotypes of acid sphingomyelinase deficiency. 38
9266408 1997
102
Amniotic fluid for screening of lysosomal storage diseases presenting in utero (mainly as non-immune hydrops fetalis). 38
8740579 1996
103
Molecular analysis of the acid sphingomyelinase deficiency in a family with an intermediate form of Niemann-Pick disease. 38
7762557 1995
104
Lipidoses detected in Poland through 1993. 38
7702688 1994
105
Ophthalmologic manifestations of type B Niemann-Pick diseases. 38
1484498 1992
106
Molecular basis of acid sphingomyelinase deficiency in a patient with Niemann-Pick disease type A. 38
1718266 1991
107
Type C Niemann-Pick disease: biochemical aspects and phenotypic heterogeneity. 38
1817036 1991
108
Synthesis of pyrenesulfonylamido-sphingomyelin and its use as substrate for determining sphingomyelinase activity and diagnosing Niemann-Pick disease. 38
2846208 1988
109
Characterization by lectin binding of the sugar moiety of glycocompounds stored in inherited diseases. 38
3123429 1987
110
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). 38
2830422 1987
111
Angiotensin converting enzyme in cultured fibroblasts in Gaucher and Niemann-Pick diseases. 38
6283559 1982
112
Diagnosis of Niemann-Pick disease using a simple and sensitive fluorimetric assay of sphingomyelinase activity. 38
31994 1978
113
Prenatal diagnosis of Gaucher's and Niemann-Pick diseases. Assays of glucocerebrosidase and sphingomyelinase in tissue cultures using natural substrates. 38
207472 1978
114
Assay of beta-glucosidase and sphingomyelinase for identification of patients and carriers of Gaucher's and Niemann-Pick diseases. 38
208369 1978
115
[The infantile chronic-visceral form of niemann-Pick diseases (author's transl)]. 38
563940 1977
116
Experimental polymer storage disease in rabbits. An approach to the histogenesis of sphingolipidoses. 38
803739 1975
117
Diagnosis of gaucher's disease and niemann-pick disease with small samples of venous blood. 38
6015567 1967
118
FATTY ACID COMPOSITIONS OF HUMAN BRAIN LECITHIN AND SPHINGOMYELIN IN NORMAL INDIVIDUALS, SENILE CEREBRAL CORTICAL ATROPHY, ALZHEIMER'S DISEASE, METACHROMATIC LEUCODYSTROPHY, TAY-SACHS AND NIEMANN-PICK DISEASES. 38
14324331 1965
119
[Ocular manifestations in Niemann-Pick diseases]. 38
13190006 1954
120
[The identity of the Tay-Sachs and Niemann-Pick diseases]. 38
13104153 1953

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 SMPD1 NPC1 FAS
2 extracellular exosome GO:0070062 9.33 SMPD1 NPC1 FAS
3 lysosome GO:0005764 8.96 SMPD1 NPC1
4 membrane raft GO:0045121 8.62 NPC1 FAS

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 SMPD1 FAS
2 response to drug GO:0042493 8.62 SMPD1 NPC1

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 NPC1 FAS
2 transmembrane signaling receptor activity GO:0004888 8.62 NPC1 FAS

Sources for Acid Sphingomyelinase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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51 NDF-RT
54 NINDS
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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