Aliases & Classifications for Acid Sphingomyelinase Deficiency

MalaCards integrated aliases for Acid Sphingomyelinase Deficiency:

Name: Acid Sphingomyelinase Deficiency 25
Niemann-Pick Disease, Type a 70
Niemann-Pick Diseases 70

External Ids:

UMLS 70 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, type b and niemann-pick disease, type a, and has symptoms including constipation, muscle weakness and vomiting. An important gene associated with Acid Sphingomyelinase Deficiency is SMPD1 (Sphingomyelin Phosphodiesterase 1), and among its related pathways/superpathways are TNF signaling and Dimerization of procaspase-8. The drugs Miglustat and Glycoside Hydrolase Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include liver, bone marrow and bone.

Wikipedia : 73 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 top 50) (show all 75)
# Related Disease Score Top Affiliating Genes
1 niemann-pick disease, type b 31.5 SMPD1 NPC1 APBB1
2 niemann-pick disease, type a 31.5 SMPD1 NPC1 APBB1
3 niemann-pick disease 30.6 SMPD1 NPC1 APBB1
4 niemann-pick disease, type c1 30.2 SMPD1 NPC1 APBB1
5 lysosomal storage disease 30.1 SMPD1 NPC1
6 sphingolipidosis 30.1 SMPD1 NPC1
7 farber lipogranulomatosis 29.9 SMPD1 NPC1
8 lung disease 10.4
9 splenomegaly 10.4
10 interstitial lung disease 10.3
11 pulmonary fibrosis 10.2
12 liver disease 10.2
13 periodontitis 10.2
14 hypercholesterolemia, familial, 1 10.1
15 respiratory failure 10.1
16 inherited metabolic disorder 10.1
17 cerebral lipidosis 10.0 SMPD1 NPC1
18 lysosomal and lipase deficiency 10.0 SMPD1 NPC1
19 niemann-pick disease, type c2 10.0 SMPD1 NPC1
20 gm1-gangliosidosis, type i 10.0 SMPD1 NPC1
21 lysosomal acid lipase deficiency 10.0 SMPD1 NPC1
22 sandhoff disease 10.0 SMPD1 NPC1
23 gm2 gangliosidosis 10.0 SMPD1 NPC1
24 mucolipidosis ii alpha/beta 10.0 SMPD1 NPC1
25 mucolipidosis 10.0 SMPD1 NPC1
26 gm1 gangliosidosis 10.0 SMPD1 NPC1
27 beckwith-wiedemann syndrome 10.0
28 gilbert syndrome 10.0
29 macroglossia 10.0
30 varicose veins 10.0
31 hemihyperplasia, isolated 10.0
32 fabry disease 10.0
33 pulmonary disease, chronic obstructive 10.0
34 graft-versus-host disease 10.0
35 autosomal recessive disease 10.0
36 ischemic colitis 10.0
37 non-alcoholic fatty liver disease 10.0
38 portal hypertension 10.0
39 toxic shock syndrome 10.0
40 thrombocytopenia 10.0
41 polyclonal hypergammaglobulinemia 10.0
42 bilirubin metabolic disorder 10.0
43 bruxism 10.0
44 lipid metabolism disorder 10.0
45 demyelinating disease 10.0
46 embryonal rhabdomyosarcoma 10.0
47 rhabdomyosarcoma 10.0
48 systemic scleroderma 10.0
49 hyperglycemia 10.0
50 angiokeratoma 10.0

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; muscle weakness; vomiting

Drugs & Therapeutics for Acid Sphingomyelinase Deficiency

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

(show all 44)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miglustat Approved Phase 4 72599-27-0 51634
2 Glycoside Hydrolase Inhibitors Phase 4
3 Anti-Infective Agents Phase 4
4 Anti-Retroviral Agents Phase 4
5 Antiviral Agents Phase 4
6 Anti-HIV Agents Phase 4
7 Cardiac Glycosides Phase 4
8 Hypoglycemic Agents Phase 4
9
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
10
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
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 acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
14
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
15 Methylprednisolone Acetate Phase 2, Phase 3
16 Antilymphocyte Serum Phase 2, Phase 3
17 Pharmaceutical Solutions Phase 2, Phase 3
18
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
19
Vorinostat Approved, Investigational Phase 1, Phase 2 149647-78-9 5311
20
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
21
Busulfan Approved, Investigational Phase 2 55-98-1 2478
22
alemtuzumab Approved, Investigational Phase 2 216503-57-0
23
Cysteine Approved, Nutraceutical Phase 1, Phase 2 52-90-4 5862
24
Glycine Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 56-40-6 750
25
Betadex Experimental Phase 1, Phase 2 7585-39-9 320761
26 Respiratory System Agents Phase 1, Phase 2
27 Expectorants Phase 1, Phase 2
28 N-monoacetylcystine Phase 1, Phase 2
29 Antidotes Phase 1, Phase 2
30 Antioxidants Phase 1, Phase 2
31 Protective Agents Phase 1, Phase 2
32 Histone Deacetylase Inhibitors Phase 1, Phase 2
33 Liver Extracts Phase 1, Phase 2
34
Bilirubin Phase 1, Phase 2 635-65-4 5280352
35 Alkylating Agents Phase 2
36 Immunosuppressive Agents Phase 2
37 Antirheumatic Agents Phase 2
38 Immunologic Factors Phase 2
39 Antineoplastic Agents, Immunological Phase 2
40
Leucine Investigational, Nutraceutical Phase 2 61-90-5 6106
41
Lithium carbonate Approved Early Phase 1 554-13-2
42 Antidepressive Agents Early Phase 1
43 Psychotropic Drugs Early Phase 1
44 Complement System Proteins

Interventional clinical trials:

(show all 44)
# 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 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 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
5 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 Active, not recruiting NCT03879655 Phase 2, Phase 3 VTS-270
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
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 Open-label Evaluation of Adrabetadex in Patients With Neurologic Manifestations of Niemann-Pick Type C Disease (NPC) Active, not recruiting NCT03643562 Phase 3 Adrabetadex
9 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 Completed NCT02292654 Phase 1, Phase 2 Olipudase alfa
10 Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine Completed NCT00975689 Phase 1, Phase 2 N-Acetyl Cysteine
11 Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1 Completed NCT02124083 Phase 1, Phase 2 Vorinostat
12 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
13 A Phase II Randomized Controlled Study of Miglustat in Adult and Juvenile Patients With Niemann-Pick Type C Disease Completed NCT00517153 Phase 2 miglustat
14 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
15 A Long-Term Study to Assess the Ongoing Safety and Efficacy of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Active, not recruiting NCT02004704 Phase 2 GZ402665
16 Effects of N-Acetyl-L-Leucine on Niemann Pick Type C Disease: A Multinational, Multicenter, Open-label, Rater-blinded Phase II Study. Active, not recruiting NCT03759639 Phase 2 IB1001
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 Active, not recruiting NCT02912793 Phase 1, Phase 2 Hydroxypropyl-beta-cyclodextrin
18 Phase 1/2a Study of 2-Hydroxypropyl-Beta-Cyclodextrin Therapy for Infantile Liver Disease Associated With Niemann-Pick Disease, Type C Active, not recruiting NCT03471143 Phase 1, Phase 2 2-Hydroxypropyl-Beta-Cyclodextrin
19 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
20 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Hematopoietic Cell Transplantation Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
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 Withdrawn NCT03687476 Phase 2 VTS-270
22 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
23 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
24 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 Completed NCT02939547 Phase 1 Hydroxypropyl-beta-cyclodextrin
25 Hydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 Disease Completed NCT01747135 Phase 1 VTS-270
26 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
27 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) Active, not recruiting NCT03893071 Phase 1 Hydroxypropyl-β-cyclodextrin
28 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
29 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
30 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
31 Investigating Lysosomal Storage Diseases in Minority Groups Unknown status NCT02120235
32 Understanding Health Insurance Literacy and Challenges in Accessing Health Services in Niemann-Pick Disease Through the Eyes of Patients and Families Completed NCT04469894
33 Induced Pluripotent Stem Cells for the Development of Novel Drug Therapies for Hepatic and Neurological Niemann Pick Disease Completed NCT03883750
34 Longitudinal Study of Cognition With Niemann-Pick Disease, Type C Completed NCT01899950
35 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
36 Positron Emission Tomography Imaging of Human Brain Phospholipid Metabolism in Relation to Age and Disease Completed NCT00001972 15 O Water
37 A Prospective and Retrospective Cohort Study to Refine and Expand the Knowledge on Patients With Chronic Forms of Acid Sphingomyelinase Deficiency (ASMD) Recruiting NCT04106544
38 Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C Recruiting NCT00344331
39 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
40 a Single-center, Prospective, Open, and Non-randomized Case-control Study of Lithium Carbonate Effect on Niemann Disease C1 Type Active, not recruiting NCT03201627 Early Phase 1 Lithium Carbonate
41 Biomarker for Niemann Pick Type C Disease (NPC1/NPC2) an International, Multicenter, Epidemiological Study Active, not recruiting NCT01306604
42 Early Access Program With Arimoclomol for the Treatment of Niemann-Pick Disease Type C in the US Available NCT04316637 Arimoclomol
43 Complement Activation in the Lysosomal Storage Disorders Not yet recruiting NCT04189601
44 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:

40
Liver, Bone Marrow, Bone, Spleen, Adipocyte, Endothelial

Publications for Acid Sphingomyelinase Deficiency

Articles related to Acid Sphingomyelinase Deficiency:

(show top 50) (show all 146)
# Title Authors PMID Year
1
Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD). 25 61
30514648 2019
2
Olipudase alfa for treatment of acid sphingomyelinase deficiency (ASMD): safety and efficacy in adults treated for 30 months. 61 25
29305734 2018
3
Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency. 25 61
26049896 2015
4
Skeletal manifestations in pediatric and adult patients with Niemann Pick disease type B. 61 25
22718274 2013
5
Liver and skin histopathology in adults with acid sphingomyelinase deficiency (Niemann-Pick disease type B). 61 25
22613999 2012
6
Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease. 25 61
17011332 2006
7
Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study. 61 25
15877209 2005
8
The natural history of type B Niemann-Pick disease: results from a 10-year longitudinal study. 25 61
15545621 2004
9
Lipid abnormalities in children with types A and B Niemann Pick disease. 25 61
15238911 2004
10
MRI in an unusually protracted neuronopathic variant of acid sphingomyelinase deficiency. 25 61
10206162 1999
11
Parental influence on human germline de novo mutations in 1,548 trios from Iceland. 25
28959963 2017
12
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 25
28349240 2017
13
SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants. 25
26499107 2016
14
Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B. 25
25920558 2016
15
Morbidity and mortality in type B Niemann-Pick disease. 25
23412609 2013
16
A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B. 25
18625664 2008
17
The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. 25
17632693 2007
18
Imprinting at the SMPD1 locus: implications for acid sphingomyelinase-deficient Niemann-Pick disease. 25
16642440 2006
19
Type B Niemann-Pick disease: findings at chest radiography, thin-section CT, and pulmonary function testing. 25
16304086 2006
20
Natural history of Type A Niemann-Pick disease: possible endpoints for therapeutic trials. 25
16434659 2006
21
Successful hematopoietic stem cell transplantation for Niemann-Pick disease type B. 25
16199719 2005
22
Early pulmonary involvement in Niemann-Pick type B disease: lung lavage is not useful. 25
15965955 2005
23
A new fluorimetric enzyme assay for the diagnosis of Niemann-Pick A/B, with specificity of natural sphingomyelinase substrate. 25
16151905 2005
24
Ocular manifestations of Niemann-Pick disease type B. 25
15234149 2004
25
Growth restriction in children with type B Niemann-Pick disease. 25
12712061 2003
26
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. 25
12694237 2003
27
The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations. 25
12369017 2002
28
Long-term survival after liver transplantation in children with metabolic disorders. 25
12234269 2002
29
Successful treatment of endogenous lipoid pneumonia due to Niemann-Pick Type B disease with whole-lung lavage. 25
11779742 2002
30
Pulmonary involvement in Niemann-Pick disease: case report and literature review. 25
11192962 2000
31
Prevalence of lysosomal storage disorders. 25
9918480 1999
32
Type A Niemann-Pick disease: a frameshift mutation in the acid sphingomyelinase gene (fsP330) occurs in Ashkenazi Jewish patients. 25
8401540 1993
33
Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients. 25
1391960 1992
34
Altered Macrophage Function Associated with Crystalline Lung Inflammation in Acid Sphingomyelinase Deficiency. 61
33662226 2021
35
Periodontal condition and treatment in a patient with rare systemic condition: A case report for acid sphingomyelinase deficiency. 61
33179797 2021
36
Oral, dental, and craniofacial features in chronic acid sphingomyelinase deficiency. 61
32946203 2020
37
Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1. 61
33257258 2020
38
Inhibition of fatty acid amide hydrolase prevents pathology in neurovisceral acid sphingomyelinase deficiency by rescuing defective endocannabinoid signaling. 61
33016621 2020
39
Autopsy pathology of infantile neurovisceral ASMD (Niemann-Pick Disease type A): Clinicopathologic correlations of a case report. 61
32714837 2020
40
Long-term efficacy of olipudase alfa in adults with acid sphingomyelinase deficiency (ASMD): Further clearance of hepatic sphingomyelin is associated with additional improvements in pro- and anti-atherogenic lipid profiles after 42 months of treatment. 61
32620536 2020
41
Development of a Diagnostic Screening Strategy for Niemann-Pick Diseases Based on Simultaneous Liquid Chromatography-Tandem Mass Spectrometry Analyses of N-Palmitoyl-O-phosphocholine-serine and Sphingosylphosphorylcholine. 61
32581190 2020
42
Clinical relevance of endpoints in clinical trials for acid sphingomyelinase deficiency enzyme replacement therapy. 61
32616389 2020
43
Combined Emphysema and Interstitial Lung Disease as a Rare Presentation of Pulmonary Involvement in a Patient with Chronic Visceral Acid Sphingomyelinase Deficiency (Niemann-Pick Disease Type B). 61
32759889 2020
44
Homozygous pArg610del Mutation Unusually Associated With Severe Delay of Growth in 2 Acid Sphingomyelinase Deficiency-affected Sibs. 61
30870388 2020
45
Addressing neurodegeneration in lysosomal storage disorders: Advances in Niemann Pick diseases. 61
31734384 2020
46
Novel mutations in the SMPD1 gene in Jordanian children with Acid sphingomyelinase deficiency (Niemann-Pick types A and B). 61
32311413 2020
47
Biochemical and imaging parameters in acid sphingomyelinase deficiency: Potential utility as biomarkers. 61
32088119 2020
48
Acid sphingomyelinase deficiency exacerbates LPS-induced experimental periodontitis. 61
31883406 2020
49
A progressive neurological condition with acquired sea-blue histiocytosis further the diagnosis of Niemann-Pick type C1 in a 10-year-old boy. 61
32317543 2020
50
An Early-Onset Neuronopathic Form of Acid Sphingomyelinase Deficiency: A SMPD1 p.C133Y Mutation in the Saposin Domain of Acid Sphingomyelinase. 61
31941852 2020

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 membrane raft GO:0045121 8.62 NPC1 FAS

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

# Name GO ID Score Top Affiliating Genes
1 cholesterol metabolic process GO:0008203 9.16 SMPD1 NPC1
2 viral entry into host cell GO:0046718 8.96 SMPD1 NPC1
3 positive regulation of apoptotic process GO:0043065 8.8 SMPD1 FAS APBB1

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 8.62 NPC1 FAS

Sources for Acid Sphingomyelinase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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