Details of Disease | DrugMAP

General Information of Disease (ID: DIST9FNK)

Disease Name	Cerebrotendinous xanthomatosis
Synonyms	cerebral cholesterinosis; cholestanol storage disease; CTx; sterol 27-hydroxylase deficiency; cerebrotendinous xanthomatosis
Definition	Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction.
Disease Hierarchy	DISUXA08: Inborn disorder of bile acid synthesis DISSYRHC: Hereditary peripheral neuropathy DISVY1TT: Leukodystrophy DIS1L24B: Eye degenerative disorder DIST11AK: Cholesterol catabolic process disease DISPGGVL: Syndromic dyslipidemia DISZF45C: Autosomal recessive metabolic cerebellar ataxia DIS6KXVS: Xanthomatosis DIS5HJ01: Subcutaneous tissue disorder DISZSG9R: Cerebral lipidosis with dementia DISPBCM3: Cerebellar degeneration DIST9FNK: Cerebrotendinous xanthomatosis
Disease Identifiers	MONDO ID MONDO_0008948 MESH ID D019294 UMLS CUI C0238052 OMIM ID 213700 MedGen ID 116041 Orphanet ID 909 SNOMED CT ID 63246000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SLC10A1	TTWZRY5	moderate	Altered Expression	[1]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CYP27A1	DEBS639	Definitive	Autosomal recessive	[2]
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This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
B4GALNT2	OT85V4QV	moderate	Altered Expression	[3]
INSL6	OTF8OJQC	moderate	Biomarker	[4]
POU2F2	OTPV0J0C	moderate	Biomarker	[5]
SSPN	OTYG2SL7	moderate	Biomarker	[3]
SPG11	OTZ7LJX4	Strong	Genetic Variation	[6]
CYP27A1	OT649C01	Definitive	Autosomal recessive	[2]
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⏷ Show the Full List of 6 DOT(s)

References

1	Disrupted coordinate regulation of farnesoid X receptor target genes in a patient with cerebrotendinous xanthomatosis.J Lipid Res. 2005 Feb;46(2):287-96. doi: 10.1194/jlr.M400256-JLR200. Epub 2004 Dec 1.
2	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
3	Sarcospan-dependent Akt activation is required for utrophin expression and muscle regeneration.J Cell Biol. 2012 Jun 25;197(7):1009-27. doi: 10.1083/jcb.201110032.
4	Insulin-like 6 is induced by muscle injury and functions as a regenerative factor.J Biol Chem. 2010 Nov 12;285(46):36060-9. doi: 10.1074/jbc.M110.160879. Epub 2010 Aug 31.
5	Cerebrotendinous xanthomatosis patients with and without parkinsonism: clinical characteristics and neuroimaging findings.Mov Disord. 2010 Mar 15;25(4):452-8. doi: 10.1002/mds.22979.
6	Are Cognitive Changes in Hereditary Spastic Paraplegias Restricted to Complicated Forms?.Front Neurol. 2019 May 24;10:508. doi: 10.3389/fneur.2019.00508. eCollection 2019.