Cholesterol biosynthesis with skeletal dysplasias (Homo sapiens)

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ArcPathVisio Brace Ellipse EndoplasmicReticulum GolgiApparatus HexagonPathVisio MimDegradation Mitochondria Octagon PentagonPathVisio Rectangle RoundedRectangle SarcoplasmicReticulum TriangleEquilateralEast TrianglePathVisio none 4,4-Dimethylcholesta-8(9),14-dien-3beta-olCholesterolDHCR24ZymosterolDHCR77-Dehydrodesmosterol8-DehydrocholesterolLanosterol4,4-dimethyl-5alpha-cholest-8-en-3beta-olvitamin DsLBRSC5D4,4-dimethyl-5alpha-cholesta-8,14,24-trien-3beta-olDesmosterolMetaboliteCYP51A114-Demethyllanosterol7-Dehydrocholesterol(5alpha)-cholest-8-en-3beta-olLathosterol(3beta,5alpha)-cholesta-7,24-dien-3-olNSDHLEBPLBRCYP51A1NSDHLEBPSC5DDHCR7SC5DEBPOMIM:308050Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb DefectsOMIM:215140Greenberg DysplasiaOMIM:302960Chondrodysplasia Punctata 2, X-Linked DominantOMIM:215140Greenberg DysplasiaOMIM:302960Chondrodysplasia Punctata 2, X-Linked DominantOMIM:308050Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb DefectsOMIM:602398DesmosterolosisName: Cholesterol Biosynthesis with Skeletal DysplasiasOrganism: Homo sapiens


Description

Issue: Unable to find 4,4,14-alpha-trimethylcholesta-8(9)-en-3beta-ol from metabolite databases.

Taken from Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis by Rossi M, Hall CM, Bouvier R, Collardeau-Frachon S, Le Breton F, Bucourt M, Cordier MP, Vianey-Saban C, Parenti G, Andria G, Le Merrer M, Edery P, Offiah AC [1].

Linked with a dotted arrow to the GeneProduct nodes are diseases caused by mutation in the respective gene.

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Quality Tags

Image:Curated.pngReview changes for Approved
Image:Wplogo_31.pngCommunity: Skeletal Dysplasia
Image:Wplogo_31.pngCommunity: Rare Diseases
Image:MissingXref.pngAnnotate nodes

Ontology Terms

Bibliography

  1. Rossi M, Hall CM, Bouvier R, Collardeau-Frachon S, Le Breton F, Bucourt M, Cordier MP, Vianey-Saban C, Parenti G, Andria G, Le Merrer M, Edery P, Offiah AC; ''Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.''; Pediatr Radiol, 2015 PubMed Europe PMC Scholia

History

View all...
CompareRevisionActionTimeUserComment
137904
Approved
view17:27, 10 March 2025KhanspersModified description
128524
RARE
view14:34, 11 February 2024EweitzSoften disease color, standardize case
117680
Skeletal Dysplasia
view12:04, 22 May 2021EweitzModified title
113891view03:30, 7 December 2020EgonwTypo fix in HMDB identifier
113832view08:46, 30 November 2020FehrhartOntology Term : 'genetic disease' added !
113760view15:19, 19 November 2020DeSlUpdated old HMDB IDs
111737view17:27, 3 September 2020KhanspersOntology Term : 'disease pathway' added !
111736view17:27, 3 September 2020KhanspersOntology Term : 'cholesterol biosynthetic pathway' added !
110273view06:44, 2 May 2020EgonwReplaced secondary ChEBI identifiers with a primary identifiers.
109130view06:15, 18 February 2020RleeFixed an unconnected line.
109024view04:06, 14 February 2020RleeModified description
109023view03:58, 14 February 2020RleeRemoved extra DataNode and linked disease label.
109018view02:33, 14 February 2020RleeModified description
109017view02:30, 14 February 2020RleeNew pathway

External references

DataNodes

View all...
Name  ↓Type  ↓Database reference  ↓Comment  ↓
(3beta,5alpha)-cholesta-7,24-dien-3-olMetaboliteCHEBI:16290 (ChEBI)
(5alpha)-cholest-8-en-3beta-olMetaboliteCHEBI:16608 (ChEBI)
14-DemethyllanosterolMetaboliteCHEBI:18364 (ChEBI)
4,4-Dimethylcholesta-8(9),14-dien-3beta-olMetaboliteHMDB60147 (HMDB)
4,4-dimethyl-5alpha-cholest-8-en-3beta-olMetaboliteCHEBI:87044 (ChEBI)
4,4-dimethyl-5alpha-cholesta-8,14,24-trien-3beta-olMetaboliteCHEBI:17813 (ChEBI)
7-DehydrocholesterolMetaboliteCHEBI:17759 (ChEBI)
7-DehydrodesmosterolMetaboliteCHEBI:27910 (ChEBI)
8-DehydrocholesterolMetaboliteHMDB02027 (HMDB)
CYP51A1GeneProductENSG00000001630 (Ensembl)
CholesterolMetaboliteCHEBI:16113 (ChEBI)
DHCR24GeneProductENSG00000116133 (Ensembl)
DHCR7GeneProductENSG00000172893 (Ensembl)
DesmosterolMetaboliteCHEBI:17737 (ChEBI)
EBPGeneProductENSG00000147155 (Ensembl)
LBRGeneProductENSG00000143815 (Ensembl)
LanosterolMetaboliteCHEBI:16521 (ChEBI)
LathosterolMetaboliteCHEBI:17168 (ChEBI)
MetaboliteMetabolite
NSDHLGeneProductENSG00000147383 (Ensembl)
SC5DGeneProductENSG00000109929 (Ensembl)
ZymosterolMetaboliteCHEBI:18252 (ChEBI)
vitamin DsMetaboliteCHEBI:27300 (ChEBI)

Annotated Interactions

No annotated interactions

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