cerebrotendinous xanthomatosis

Summary
Synonym
  • Cholestanol storage disease
Definition
A xanthomatosis that is characterized by a deficiency in the production of the bile acid, chenodeoxycholic acid that has_material_basis_in autosomal recessive inheritance and results in cholestanol deposition in the brain and other tissues and with elevated levels of cholesterol in plasma.
Super Class
xanthomatosis
External Links
Disease Ontology
DOID:4810
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
WikiPathways (from TogoID)
Related Genes
Displaying all 8 entries
Gene ID Gene Symbol Description Source
1555 CYP2B6 cytochrome P450 family 2 subfamily B member 6
1576 CYP3A4 cytochrome P450 family 3 subfamily A member 4
1593 CYP27A1 cytochrome P450 family 27 subfamily A member 1
1594 CYP27B1 cytochrome P450 family 27 subfamily B member 1
3290 HSD11B1 hydroxysteroid 11-beta dehydrogenase 1
3291 HSD11B2 hydroxysteroid 11-beta dehydrogenase 2
5730 PTGDS prostaglandin D2 synthase
124872 B4GALNT2 beta-1,4-N-acetyl-galactosaminyltransferase 2 (SID blood group)
The Human Phenotype Ontology
Displaying entries 31 - 40 of 108 in total
HPO ID HPO Term
HP:0001288 Gait disturbance
HP:0001300 Parkinsonism
HP:0001317 Abnormal cerebellum morphology
HP:0001328 Specific learning disability
HP:0001332 Dystonia
HP:0001347 Hyperreflexia
HP:0001761 Pes cavus
HP:0002028 Chronic diarrhea
HP:0002071 Abnormality of extrapyramidal motor function
HP:0002088 Abnormal lung morphology
Displaying 1 entry
Gene ID Gene Symbol Description
1593 CYP27A1 cytochrome P450 family 27 subfamily A member 1

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Last updated: August 19, 2024