Compounds > cholestane-3,5,6-triol, (3beta, 5alpha, 6beta)-isomer
Page last updated: 2024-11-06

cholestane-3,5,6-triol, (3beta, 5alpha, 6beta)-isomer

Description Research Excerpts Clinical Trials Roles Classes Pathways Study Profile Bioassays Related Drugs Related Conditions Protein Interactions Research Growth Market Indicators

Cross-References

ID SourceID
PubMed CID91498
CHEMBL ID1278089
CHEBI ID28082
SCHEMBL ID288840
MeSH IDM0307441

Synonyms (61)

Synonym
cholestane-3,6-triol, (3.beta.,5.alpha.,6.beta.)-
cholesta-3.beta.,6.beta.-triol
cholestane-3.beta.,6.beta.-triol
5.alpha.-cholestane-3.beta.,6.beta.-triol
nsc-124751
nsc124751
wln: l e5 b666tj a1 e1 fy1&3y1&1 lq mq oq
3.beta.,6.beta.-trihydroxycholestane
5-alpha-cholestane-3-beta,5,6-beta-triol
cholesta-3beta,5alpha,6beta-triol
cholestane-3,5,6-triol, (3beta,5alpha,6beta)-
3beta-hydroxycholestane-5alpha,6beta-diol
5-alpha,6-beta-dihydroxycholestanol
nsc 18178
ai3-62264
cholestane-3,5,6-triol, (3-beta,5-alpha,6-beta)-
nsc 124751
ccris 2836
nsc18178
nsc-18178
cholestane-3beta-5alpha,6beta-triol
C05425
1253-84-5
3beta,5alpha,6beta-cholestanetriol
5alpha,6beta-dihydroxycholestanol
cholestane-3beta,5alpha,6beta-triol
LMST01010052
cholestane-3-beta,5-alpha,6-beta-triol
5alpha-cholestane-3beta,5,6beta-triol
3beta,5alpha,6beta-trihydroxycholestane
CHEBI:28082 ,
cholestane-3-beta-5-alpha,6-beta-triol
(3s,5r,6r,8s,9s,10r,13r,14s,17r)-10,13-dimethyl-17-[(2r)-6-methylheptan-2-yl]-1,2,3,4,6,7,8,9,11,12,14,15,16,17-tetradecahydrocyclopenta[a]phenanthrene-3,5,6-triol
CHEMBL1278089
3beta,5alpha,6beta-trihydroxycholestanol
5xab8ph90a ,
unii-5xab8ph90a
5.alpha.,6.beta.-dihydroxycholestanol
cholestane-3.beta.,5.alpha.,6.beta.-triol
cholestane-3,5,6-triol, (3.beta.,5.alpha.,6.beta.)-
5.alpha.-cholestane-3.beta.,5,6.beta.-triol
3.beta.-hydroxycholestane-5.alpha.,6.beta.-diol
cholesta-3.beta.,5.alpha.,6.beta.-triol
3.beta.,5.alpha.,6.beta.-trihydroxycholestane
SCHEMBL288840
AKOS024307569
YMMFNKXZULYSOQ-RUXQDQFYSA-N
cholestan-3-.beta.,5-.alpha.,6-.beta.-triol
bdbm50045539
J-005221
3b,5a,6b-cholestanetriol
AS-62184
3|a,5|a,6|a-trihydroxycholestane
cholestane-3b,5a,6b-triol
Q27103493
(3s,5r,6r,8s,9s,10r,13r,14s,17r)-10,13-dimethyl-17-((r)-6-methylheptan-2-yl)hexadecahydro-1h-cyclopenta[a]phenanthrene-3,5,6-triol
F85609
(3beta,5alpha,6beta)-cholestane-3,5,6-triol
DTXSID70862612
CS-W011650
HY-W010934

Research Excerpts

Toxicity

ExcerptReferenceRelevance
" In general, the oxysterols were more toxic to cancer cells and a set of compounds (9, 14, 21, 28, 45) with very high selectivity was identified."( Selective cytotoxicity of oxysterols through structural modulation on rings A and B. Synthesis, in vitro evaluation, and SAR.
Carvalho, JF; Moreira, JN; Sá E Melo, ML; Silva, MM; Simões, S, 2011)		0.37
[information is derived through text-mining from research data collected from National Library of Medicine (NLM), extracted Dec-2023]

Drug Classes (3)

ClassDescription
3beta-hydroxy steroidA 3-hydroxy steroid in which the 3-hydroxy substituent is in the beta-position.
6beta-hydroxy steroidAny 6-hydroxy steroid in which the 6-hydroxy substituent has beta-configuration.
5alpha-hydroxy steroid
[compound class information is derived from Chemical Entities of Biological Interest (ChEBI), Hastings J, Owen G, Dekker A, Ennis M, Kale N, Muthukrishnan V, Turner S, Swainston N, Mendes P, Steinbeck C. (2016). ChEBI in 2016: Improved services and an expanding collection of metabolites. Nucleic Acids Res]

Pathways (1)

PathwayProteinsCompounds
7-oxo-C and 7-beta-HC pathways1513

Protein Targets (1)

Activation Measurements

ProteinTaxonomyMeasurementAverageMin (ref.)Avg (ref.)Max (ref.)Bioassay(s)
NPC1-like intracellular cholesterol transporter 1Homo sapiens (human)EC50 (µMol)1.70001.70003.52508.7000AID1179742
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]

Biological Processes (8)

Processvia Protein(s)Taxonomy
cholesterol biosynthetic processNPC1-like intracellular cholesterol transporter 1Homo sapiens (human)
intestinal cholesterol absorptionNPC1-like intracellular cholesterol transporter 1Homo sapiens (human)
cholesterol transportNPC1-like intracellular cholesterol transporter 1Homo sapiens (human)
lipoprotein metabolic processNPC1-like intracellular cholesterol transporter 1Homo sapiens (human)
vitamin E metabolic processNPC1-like intracellular cholesterol transporter 1Homo sapiens (human)
vitamin transportNPC1-like intracellular cholesterol transporter 1Homo sapiens (human)
cellular response to sterol depletionNPC1-like intracellular cholesterol transporter 1Homo sapiens (human)
cholesterol homeostasisNPC1-like intracellular cholesterol transporter 1Homo sapiens (human)
[Information is prepared from geneontology information from the June-17-2024 release]

Molecular Functions (6)

Processvia Protein(s)Taxonomy
protein bindingNPC1-like intracellular cholesterol transporter 1Homo sapiens (human)
vitamin E bindingNPC1-like intracellular cholesterol transporter 1Homo sapiens (human)
cholesterol bindingNPC1-like intracellular cholesterol transporter 1Homo sapiens (human)
small GTPase bindingNPC1-like intracellular cholesterol transporter 1Homo sapiens (human)
myosin V bindingNPC1-like intracellular cholesterol transporter 1Homo sapiens (human)
protein homodimerization activityNPC1-like intracellular cholesterol transporter 1Homo sapiens (human)
[Information is prepared from geneontology information from the June-17-2024 release]

Ceullar Components (3)

Processvia Protein(s)Taxonomy
plasma membraneNPC1-like intracellular cholesterol transporter 1Homo sapiens (human)
apical plasma membraneNPC1-like intracellular cholesterol transporter 1Homo sapiens (human)
cytoplasmic vesicle membraneNPC1-like intracellular cholesterol transporter 1Homo sapiens (human)
plasma membraneNPC1-like intracellular cholesterol transporter 1Homo sapiens (human)
[Information is prepared from geneontology information from the June-17-2024 release]

Bioassays (31)

Assay IDTitleYearJournalArticle
AID768318Binding affinity to human GFP-tagged NPC1L1 L1072T/L1168I mutant expressed in HEK293 cells assessed as localization to endoplasmic reticulum and plasma membrane at 3 uM after 24 hrs by fluorescence microscopic analysis2013Bioorganic & medicinal chemistry, Sep-01, Volume: 21, Issue:17
Structure-activity relationship studies of Niemann-Pick type C1-like 1 (NPC1L1) ligands identified by screening assay monitoring pharmacological chaperone effect.
AID537053Cytotoxicity against human A549 cells after 48 hrs by Alamar blue assay2010Journal of medicinal chemistry, Nov-11, Volume: 53, Issue:21
Sterols as anticancer agents: synthesis of ring-B oxygenated steroids, cytotoxic profile, and comprehensive SAR analysis.
AID537059Cytotoxicity against human BJ cells after 48 hrs by Alamar blue assay2010Journal of medicinal chemistry, Nov-11, Volume: 53, Issue:21
Sterols as anticancer agents: synthesis of ring-B oxygenated steroids, cytotoxic profile, and comprehensive SAR analysis.
AID537057Cytotoxicity against human MCF7 cells after 48 hrs by Alamar blue assay2010Journal of medicinal chemistry, Nov-11, Volume: 53, Issue:21
Sterols as anticancer agents: synthesis of ring-B oxygenated steroids, cytotoxic profile, and comprehensive SAR analysis.
AID617324Cytotoxicity against human LAMA-84 cells assessed as cell viability after 48 hrs by alamar blue assay2011Journal of medicinal chemistry, Sep-22, Volume: 54, Issue:18
Selective cytotoxicity of oxysterols through structural modulation on rings A and B. Synthesis, in vitro evaluation, and SAR.
AID537052Cytotoxicity against human LAMA-84 cells after 48 hrs by Alamar blue assay2010Journal of medicinal chemistry, Nov-11, Volume: 53, Issue:21
Sterols as anticancer agents: synthesis of ring-B oxygenated steroids, cytotoxic profile, and comprehensive SAR analysis.
AID617326Cytotoxicity against human SH-SY5Y cells assessed as cell viability after 48 hrs by alamar blue assay2011Journal of medicinal chemistry, Sep-22, Volume: 54, Issue:18
Selective cytotoxicity of oxysterols through structural modulation on rings A and B. Synthesis, in vitro evaluation, and SAR.
AID617330Cytotoxicity against human ARPE19 cells assessed as cell viability after 48 hrs by alamar blue assay2011Journal of medicinal chemistry, Sep-22, Volume: 54, Issue:18
Selective cytotoxicity of oxysterols through structural modulation on rings A and B. Synthesis, in vitro evaluation, and SAR.
AID1656767Induction of human HMGCR-dCat-ELuc degradation expressed in HEK293 cells assessed as reduction in luciferase activity after 4 hrs by luciferase reporter assay2020Bioorganic & medicinal chemistry, 02-01, Volume: 28, Issue:3
Luciferase-based HMG-CoA reductase degradation assay for activity and selectivity profiling of oxy(lano)sterols.
AID537061Chemical stability of the compound in 0.1 M aqueous phosphate buffer assessed as hydrolysis at pH 7.4 after 96 hrs2010Journal of medicinal chemistry, Nov-11, Volume: 53, Issue:21
Sterols as anticancer agents: synthesis of ring-B oxygenated steroids, cytotoxic profile, and comprehensive SAR analysis.
AID537054Cytotoxicity against human PC3 cells after 48 hrs by Alamar blue assay2010Journal of medicinal chemistry, Nov-11, Volume: 53, Issue:21
Sterols as anticancer agents: synthesis of ring-B oxygenated steroids, cytotoxic profile, and comprehensive SAR analysis.
AID617329Cytotoxicity against human PC3 cells assessed as cell viability after 48 hrs by alamar blue assay2011Journal of medicinal chemistry, Sep-22, Volume: 54, Issue:18
Selective cytotoxicity of oxysterols through structural modulation on rings A and B. Synthesis, in vitro evaluation, and SAR.
AID617325Cytotoxicity against human MCF7 cells assessed as cell viability after 48 hrs by alamar blue assay2011Journal of medicinal chemistry, Sep-22, Volume: 54, Issue:18
Selective cytotoxicity of oxysterols through structural modulation on rings A and B. Synthesis, in vitro evaluation, and SAR.
AID537051Cytotoxicity against human HT-29 cells after 96 hrs by Alamar blue assay2010Journal of medicinal chemistry, Nov-11, Volume: 53, Issue:21
Sterols as anticancer agents: synthesis of ring-B oxygenated steroids, cytotoxic profile, and comprehensive SAR analysis.
AID977599Inhibition of sodium fluorescein uptake in OATP1B1-transfected CHO cells at an equimolar substrate-inhibitor concentration of 10 uM2013Molecular pharmacology, Jun, Volume: 83, Issue:6
Structure-based identification of OATP1B1/3 inhibitors.
AID617331Cytotoxicity against human BJ cells assessed as cell viability after 48 hrs by alamar blue assay2011Journal of medicinal chemistry, Sep-22, Volume: 54, Issue:18
Selective cytotoxicity of oxysterols through structural modulation on rings A and B. Synthesis, in vitro evaluation, and SAR.
AID537060Selectivity index, ratio of IC50 for human ARPE19 cells to IC50 for human LAMA-84 cells2010Journal of medicinal chemistry, Nov-11, Volume: 53, Issue:21
Sterols as anticancer agents: synthesis of ring-B oxygenated steroids, cytotoxic profile, and comprehensive SAR analysis.
AID617323Cytotoxicity against human HT-29 cells assessed as cell viability after 48 hrs by alamar blue assay2011Journal of medicinal chemistry, Sep-22, Volume: 54, Issue:18
Selective cytotoxicity of oxysterols through structural modulation on rings A and B. Synthesis, in vitro evaluation, and SAR.
AID617327Cytotoxicity against human HepG2 cells assessed as cell viability after 48 hrs by alamar blue assay2011Journal of medicinal chemistry, Sep-22, Volume: 54, Issue:18
Selective cytotoxicity of oxysterols through structural modulation on rings A and B. Synthesis, in vitro evaluation, and SAR.
AID1656771Inhibition of SREBP (unknown origin) expressed in HEK293 cells assessed as reduction in LDLr promotor activity after 24 hrs by luciferase reporter assay2020Bioorganic & medicinal chemistry, 02-01, Volume: 28, Issue:3
Luciferase-based HMG-CoA reductase degradation assay for activity and selectivity profiling of oxy(lano)sterols.
AID768321Binding affinity to NPC1 (unknown origin)2013Bioorganic & medicinal chemistry, Sep-01, Volume: 21, Issue:17
Structure-activity relationship studies of Niemann-Pick type C1-like 1 (NPC1L1) ligands identified by screening assay monitoring pharmacological chaperone effect.
AID1179742Binding affinity to FLAG/tGFP-tagged NPC1 I1061T mutant (unknown origin) expressed in HEK293 cells assessed as localization after 24 hrs by fluorescence microscopy2014Bioorganic & medicinal chemistry letters, Aug-01, Volume: 24, Issue:15
Structure-activity relationships of oxysterol-derived pharmacological chaperones for Niemann-Pick type C1 protein.
AID617334Selectivity index, ratio of IC50 for human ARPE19 cells to IC50 for human HT-29 cells2011Journal of medicinal chemistry, Sep-22, Volume: 54, Issue:18
Selective cytotoxicity of oxysterols through structural modulation on rings A and B. Synthesis, in vitro evaluation, and SAR.
AID617328Cytotoxicity against human A549 cells assessed as cell viability after 48 hrs by alamar blue assay2011Journal of medicinal chemistry, Sep-22, Volume: 54, Issue:18
Selective cytotoxicity of oxysterols through structural modulation on rings A and B. Synthesis, in vitro evaluation, and SAR.
AID537058Cytotoxicity against HMEC1 cells after 48 hrs by Alamar blue assay2010Journal of medicinal chemistry, Nov-11, Volume: 53, Issue:21
Sterols as anticancer agents: synthesis of ring-B oxygenated steroids, cytotoxic profile, and comprehensive SAR analysis.
AID537056Cytotoxicity against human HepG2 cells after 48 hrs by Alamar blue assay2010Journal of medicinal chemistry, Nov-11, Volume: 53, Issue:21
Sterols as anticancer agents: synthesis of ring-B oxygenated steroids, cytotoxic profile, and comprehensive SAR analysis.
AID537064Chemical stability of the compound in 0.1 M aqueous acetate buffer assessed as hydrolysis at pH 4.6 after 96 hrs2010Journal of medicinal chemistry, Nov-11, Volume: 53, Issue:21
Sterols as anticancer agents: synthesis of ring-B oxygenated steroids, cytotoxic profile, and comprehensive SAR analysis.
AID537055Cytotoxicity against human ARPE19 cells after 48 hrs by Alamar blue assay2010Journal of medicinal chemistry, Nov-11, Volume: 53, Issue:21
Sterols as anticancer agents: synthesis of ring-B oxygenated steroids, cytotoxic profile, and comprehensive SAR analysis.
AID977602Inhibition of sodium fluorescein uptake in OATP1B3-transfected CHO cells at an equimolar substrate-inhibitor concentration of 10 uM2013Molecular pharmacology, Jun, Volume: 83, Issue:6
Structure-based identification of OATP1B1/3 inhibitors.
AID537050Cytotoxicity against human HT-29 cells after 48 hrs by Alamar blue assay2010Journal of medicinal chemistry, Nov-11, Volume: 53, Issue:21
Sterols as anticancer agents: synthesis of ring-B oxygenated steroids, cytotoxic profile, and comprehensive SAR analysis.
AID1159550Human Phosphogluconate dehydrogenase (6PGD) Inhibitor Screening2015Nature cell biology, Nov, Volume: 17, Issue:11
6-Phosphogluconate dehydrogenase links oxidative PPP, lipogenesis and tumour growth by inhibiting LKB1-AMPK signalling.
[information is prepared from bioassay data collected from National Library of Medicine (NLM), extracted Dec-2023]

Research

Studies (7)

TimeframeStudies, This Drug (%)All Drugs %
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's6 (85.71)24.3611
2020's1 (14.29)2.80
[information is prepared from research data collected from National Library of Medicine (NLM), extracted Dec-2023]

Market Indicators

Research Demand Index: 13.25

According to the monthly volume, diversity, and competition of internet searches for this compound, as well the volume and growth of publications, there is estimated to be weak demand-to-supply ratio for research on this compound.

MetricThis Compound (vs All)
Research Demand Index13.25 (24.57)
Research Supply Index2.08 (2.92)
Research Growth Index5.33 (4.65)
Search Engine Demand Index0.00 (26.88)
Search Engine Supply Index0.00 (0.95)

This Compound (13.25)

All Compounds (24.57)

Study Types

Publication TypeThis drug (%)All Drugs (%)
Trials0 (0.00%)5.53%
Reviews1 (14.29%)6.00%
Case Studies0 (0.00%)4.05%
Observational0 (0.00%)0.25%
Other6 (85.71%)84.16%
[information is prepared from research data collected from National Library of Medicine (NLM), extracted Dec-2023]
SubstanceRelationship StrengthStudiesTrialsClassesRoles
dehydroepiandrosterone
Dehydroepiandrosterone: A major C19 steroid produced by the ADRENAL CORTEX. It is also produced in small quantities in the TESTIS and the OVARY. Dehydroepiandrosterone (DHEA) can be converted to TESTOSTERONE; ANDROSTENEDIONE; ESTRADIOL; and ESTRONE. Most of DHEA is sulfated (DEHYDROEPIANDROSTERONE SULFATE) before secretion.. dehydroepiandrosterone : An androstanoid that is androst-5-ene substituted by a beta-hydroxy group at position 3 and an oxo group at position 17. It is a naturally occurring steroid hormone produced by the adrenal glands.		2.492017-oxo steroid;
3beta-hydroxy-Delta(5)-steroid;
androstanoid		androgen;
human metabolite;
mouse metabolite
androstenediol
Androstenediol: An intermediate in TESTOSTERONE biosynthesis, found in the TESTIS or the ADRENAL GLANDS. Androstenediol, derived from DEHYDROEPIANDROSTERONE by the reduction of the 17-keto group (17-HYDROXYSTEROID DEHYDROGENASES), is converted to TESTOSTERONE by the oxidation of the 3-beta hydroxyl group to a 3-keto group (3-HYDROXYSTEROID DEHYDROGENASES).. androst-5-ene-3beta,17beta-diol : A 3beta-hydroxy-Delta(5)-steroid that is 3beta-hydroxyandrost-5-ene carrying an additional hydroxy group at position 17beta.		2.11017beta-hydroxy steroid;
3beta-hydroxy-Delta(5)-steroid		androgen;
human metabolite;
mouse metabolite;
radiation protective agent
25-hydroxycholesterol
[no description available]		2.813025-hydroxy steroid;
oxysterol		human metabolite
7-ketocholesterol
7-ketocholesterol: inhibits uptake of cholesterol in rabbit aorta. 7-ketocholesterol : A cholestanoid that consists of cholesterol bearing an oxo substituent at position 7.		2.99403beta-hydroxy-Delta(5)-steroid;
3beta-sterol;
7-oxo steroid;
cholestanoid		neuroprotective agent
3 beta-hydroxy-delta 5-cholenic acid
[no description available]		2.4920steroid
6-ketocholestanol
[no description available]		2.4920
cholest-5-en-3 beta,7 alpha-diol
7alpha-hydroxycholesterol : The 7alpha-hydroxy derivative of cholesterol.		2.46203beta-hydroxy-Delta(5)-steroid;
7alpha-hydroxy steroid;
oxysterol		mouse metabolite
(20s)-20-hydroxycholesterol
20-hydroxycholesterol: RN given refers to (20S)-isomer. 20-hydroxycholesterol : An oxysterol that is cholesterol substituted by a hydroxy group at position 20.		2.492020-hydroxy steroid;
3beta-hydroxy-Delta(5)-steroid;
oxysterol		human metabolite;
mouse metabolite
ezetimibe
Ezetimibe: An azetidine derivative and ANTICHOLESTEREMIC AGENT that inhibits intestinal STEROL absorption. It is used to reduce total CHOLESTEROL; LDL CHOLESTEROL, and APOLIPOPROTEINS B in the treatment of HYPERLIPIDEMIAS.. ezetimibe : A beta-lactam that is azetidin-2-one which is substituted at 1, 3, and 4 by p-fluorophenyl, 3-(p-fluorophenyl)-3-hydroxypropyl, and 4-hydroxyphenyl groups, respectively (the 3R,3'S,4S enantiomer).		2.0810azetidines;
beta-lactam;
organofluorine compound		anticholesteremic drug;
antilipemic drug;
antimetabolite
ys 64
cholestan-6-oxo-3,5-diol: metabolite of 5,6-epoxycholesterol; structure in first source		2.7630cholestanoid
3-hydroxystigmast-5-en-7-one
[no description available]		2.0510steroid
(22r)-22-hydroxycholesterol
(22R)-22-hydroxycholesterol : An oxysterol that is the 22R-hydroxy derivative of cholesterol.		2.492022-hydroxy steroid;
3beta-hydroxy-Delta(5)-steroid;
oxysterol
22s-hydroxycholesterol
(22S)-22-hydroxycholesterol : An oxysterol that is the 22S-hydroxy derivative of cholesterol.		2.492022-hydroxy steroid;
3beta-hydroxy-Delta(5)-steroid;
oxysterol
sk&f 99085
[no description available]		2.2510
cholesterol alpha-oxide
cholesterol alpha-oxide: RN given refers to (3beta,5alpha,6alpha)-isomer; structure		2.05103beta-hydroxy steroid;
epoxy steroid;
oxysterol
24,25-dihydrolanosterol
lanostenol: RN given refers to (3beta)-isomer; structure. 24,25-dihydrolanosterol : A 3beta-sterol formed from lanosterol by reduction across the C-24-C-25 double bond.		2.25103beta-sterol;
tetracyclic triterpenoid		human metabolite;
mouse metabolite
ketoconazole
(2R,4S)-ketoconazole : A cis-1-acetyl-4-(4-{[2-(2,4-dichlorophenyl)-2-(1H-imidazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy}phenyl)piperazine which dioxolane moiety has (2R,4S)-configuration.		2.2510cis-1-acetyl-4-(4-{[2-(2,4-dichlorophenyl)-2-(1H-imidazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy}phenyl)piperazine
cholest-5-en-3 beta,7 alpha-diol, (3beta,7beta)-isomer
[no description available]		2.99407beta-hydroxy steroid;
oxysterol
19-hydroxycholesterol
19-hydroxycholesterol: structure given in first source		2.8130cholestanoid
tak 475
1-((1-(3-acetoxy-2,2-dimethylpropyl)-7-chloro-5-(2,3-dimethoxyphenyl)-2-oxo-1,2,3,5-tetrahydro-4,1-benzoxazepin-3-yl)acetyl)piperidine-4-acetic acid: inhibits squalene synthase; structure in first source		2.2510
cholenic acid dimethylamide
cholenic acid dimethylamide: binds LXRalpha receptor; structure in first source		2.4920
ConditionIndicatedRelationship StrengthStudiesTrials
Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia
[description not available]		02.110
Niemann-Pick Disease, Type C
An autosomal recessive lipid storage disorder that is characterized by accumulation of CHOLESTEROL and SPHINGOMYELINS in cells of the VISCERA and the CENTRAL NERVOUS SYSTEM. Type C (or C1) and type D are allelic disorders caused by mutation of the NPC1 gene, which encodes a protein that mediates intracellular cholesterol transport from LYSOSOMES. Clinical signs include hepatosplenomegaly and chronic neurological symptoms. Type D is a variant in people with a Nova Scotia ancestry.		02.110
Benign Neoplasms
[description not available]		03.0310
Neoplasms
New abnormal growth of tissue. Malignant neoplasms show a greater degree of anaplasia and have the properties of invasion and metastasis, compared to benign neoplasms.		03.0310