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Record Information
StatusDetected and Quantified
Creation Date2006-05-22 14:17:32 UTC
Update Date2020-02-26 21:23:44 UTC
Secondary Accession Numbers
  • HMDB02027
Metabolite Identification
Common Name8-Dehydrocholesterol
Description8-Dehydrocholesterol (8-DHC) elevated concentration is one of the diagnostic biochemical hallmarks of classical Smith-Lemli-Opitz syndrome (SLOS). Plasma 8-DHC could be only marginally elevated. (PMID: 16435228 ). Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive condition caused by a defect in cholesterol synthesis (caused by a deficit of 3beta-hydroxysterol-Delta7 reductase). Affected children often have malformations and mental retardation. Autistic behaviors also are evident. In children, the baseline cholesterol, 8-DHC levels, and cholesterol levels following supplementation does not correlate with the presence or severity of autistic symptoms. (PMID: 16761297 ). Accumulation of 8-dehydrocholesterol in Amniotic fluid is diagnostic for SLOS. (PMID 16231320 ).
Cholesta-5,8-dien-3 beta-olHMDB
Chemical FormulaC27H44O
Average Molecular Weight384.6377
Monoisotopic Molecular Weight384.33921603
IUPAC Name(2S,5S,11R,14R,15R)-2,15-dimethyl-14-[(2R)-6-methylheptan-2-yl]tetracyclo[²,⁷.0¹¹,¹⁵]heptadeca-1(10),7-dien-5-ol
Traditional Name8-dehydrocholesterol
CAS Registry Number70741-38-7
InChI Identifier
Chemical Taxonomy
Description belongs to the class of organic compounds known as cholesterols and derivatives. Cholesterols and derivatives are compounds containing a 3-hydroxylated cholestane core.
KingdomOrganic compounds
Super ClassLipids and lipid-like molecules
ClassSteroids and steroid derivatives
Sub ClassCholestane steroids
Direct ParentCholesterols and derivatives
Alternative Parents
  • Cholesterol-skeleton
  • 3-beta-hydroxysteroid
  • 3-beta-hydroxy-delta-5-steroid
  • Hydroxysteroid
  • 3-hydroxysteroid
  • 3-hydroxy-delta-5-steroid
  • Delta-5-steroid
  • Cyclic alcohol
  • Secondary alcohol
  • Organic oxygen compound
  • Hydrocarbon derivative
  • Organooxygen compound
  • Alcohol
  • Aliphatic homopolycyclic compound
Molecular FrameworkAliphatic homopolycyclic compounds
External Descriptors
Physiological effect

Health effect:


Route of exposure:


Biological location:


Naturally occurring process:


Biological role:

Industrial application:

Physical Properties
Experimental Properties
Melting PointNot AvailableNot Available
Boiling PointNot AvailableNot Available
Water SolubilityNot AvailableNot Available
LogPNot AvailableNot Available
Predicted Properties
Water Solubility0.00091 g/LALOGPS
pKa (Strongest Acidic)18.27ChemAxon
pKa (Strongest Basic)-1.4ChemAxon
Physiological Charge0ChemAxon
Hydrogen Acceptor Count1ChemAxon
Hydrogen Donor Count1ChemAxon
Polar Surface Area20.23 ŲChemAxon
Rotatable Bond Count5ChemAxon
Refractivity121.2 m³·mol⁻¹ChemAxon
Polarizability50.14 ųChemAxon
Number of Rings4ChemAxon
Rule of FiveNoChemAxon
Ghose FilterNoChemAxon
Veber's RuleYesChemAxon
MDDR-like RuleNoChemAxon
Spectrum TypeDescriptionSplash KeyView
Predicted GC-MSPredicted GC-MS Spectrum - GC-MS (Non-derivatized) - 70eV, Positivesplash10-0ar0-1019000000-8455a6c27493f97ebe56Spectrum
Predicted GC-MSPredicted GC-MS Spectrum - GC-MS (1 TMS) - 70eV, Positivesplash10-002f-3104900000-efe703ec411e4c08c1abSpectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 10V, Positivesplash10-014r-0009000000-8f5b8c3c66952dc51dc0Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 20V, Positivesplash10-05p9-3239000000-83a847e9f50d75c56b64Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 40V, Positivesplash10-0a4i-5249000000-d434b4187b0bc28431c4Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 10V, Negativesplash10-001i-0009000000-e7c8524cf153f94d3913Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 20V, Negativesplash10-001i-0009000000-484d145862cff531746aSpectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 40V, Negativesplash10-0gb9-1009000000-9618317ed2447b79a252Spectrum
Biological Properties
Cellular Locations
  • Extracellular
  • Membrane
Biospecimen Locations
  • Blood
  • Cerebrospinal Fluid (CSF)
Tissue LocationsNot Available
Normal Concentrations
BloodDetected and Quantified0.65 (0.0-1.3) uMAdult (>18 years old)BothNormal details
BloodDetected and Quantified<0.000260 uMChildren (1-13 years old)Not SpecifiedNormal details
Abnormal Concentrations
BloodDetected and Quantified312.0 +/- 52.0 uMAdult (>18 years old)BothSmith-Lemli-Opitz syndrome details
BloodDetected and Quantified0.0754 uMChildren (1-13 years old)MaleChondrodysplasia punctata, X-linked dominant details
Cerebrospinal Fluid (CSF)Detected and Quantified0.3 +/- 0.1 (0.2 - 0.5) uMInfant (0-1 year old)Not SpecifiedSmith-Lemli-Opitz syndrome details
Associated Disorders and Diseases
Disease References
Chondrodysplasia punctata, X-linked dominant
  1. Aughton DJ, Kelley RI, Metzenberg A, Pureza V, Pauli RM: X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male. Am J Med Genet A. 2003 Jan 30;116A(3):255-60. doi: 10.1002/ajmg.a.10852. [PubMed:12503102 ]
Smith-Lemli-Opitz syndrome
  1. van Rooij A, Nijenhuis AA, Wijburg FA, Schutgens RB: Highly increased CSF concentrations of cholesterol precursors in Smith-Lemli-Opitz syndrome. J Inherit Metab Dis. 1997 Aug;20(4):578-80. [PubMed:9266395 ]
  2. Honda M, Tint GS, Honda A, Salen G, Shefer S, Batta AK, Matsuzaki Y, Tanaka N: Regulation of cholesterol biosynthetic pathway in patients with the Smith-Lemli-Opitz syndrome. J Inherit Metab Dis. 2000 Jul;23(5):464-74. [PubMed:10947201 ]
Associated OMIM IDs
  • 302960 (Chondrodysplasia punctata, X-linked dominant)
  • 270400 (Smith-Lemli-Opitz syndrome)
DrugBank IDNot Available
Phenol Explorer Compound IDNot Available
FooDB IDFDB022805
KNApSAcK IDNot Available
Chemspider ID114943
KEGG Compound IDNot Available
BioCyc IDNot Available
BiGG IDNot Available
Wikipedia LinkNot Available
METLIN IDNot Available
PubChem Compound129846
PDB IDNot Available
ChEBI ID89982
Food Biomarker OntologyNot Available
Synthesis ReferenceNot Available
Material Safety Data Sheet (MSDS)Not Available
General References
  1. van Rooij A, Nijenhuis AA, Wijburg FA, Schutgens RB: Highly increased CSF concentrations of cholesterol precursors in Smith-Lemli-Opitz syndrome. J Inherit Metab Dis. 1997 Aug;20(4):578-80. [PubMed:9266395 ]
  2. Haas D, Armbrust S, Haas JP, Zschocke J, Muhlmann K, Fusch C, Neumann LM: Smith-Lemli-Opitz syndrome with a classical phenotype, oesophageal achalasia and borderline plasma sterol concentrations. J Inherit Metab Dis. 2005;28(6):1191-6. [PubMed:16435228 ]
  3. Sikora DM, Pettit-Kekel K, Penfield J, Merkens LS, Steiner RD: The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome. Am J Med Genet A. 2006 Jul 15;140(14):1511-8. [PubMed:16761297 ]
  4. Chevy F, Humbert L, Wolf C: Sterol profiling of amniotic fluid: a routine method for the detection of distal cholesterol synthesis deficit. Prenat Diagn. 2005 Nov;25(11):1000-6. [PubMed:16231320 ]