cerebrotendinous xanthomatosis
GPTKB entity
Statements (45)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
inborn error of metabolism autosomal recessive disorder |
| gptkbp:affects |
cholesterol metabolism
|
| gptkbp:alsoKnownAs |
gptkb:CTX
cerebrotendinous xanthomatosis syndrome |
| gptkbp:biochemicalFeature |
bile alcohols in urine
elevated cholestanol low chenodeoxycholic acid |
| gptkbp:category |
genetic disorder
neurometabolic disorder lipid storage disorder |
| gptkbp:characterizedBy |
gptkb:dementia
diarrhea intellectual disability spasticity neurological symptoms xanthomas progressive ataxia tendon xanthomas premature cataracts |
| gptkbp:diagnosedBy |
MRI
genetic testing biochemical analysis |
| gptkbp:firstDescribed |
1937
|
| gptkbp:hasOrphanetID |
ORPHA:365
|
| https://www.w3.org/2000/01/rdf-schema#label |
cerebrotendinous xanthomatosis
|
| gptkbp:ICD-10_code |
E75.5
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
CYP27A1 gene
|
| gptkbp:OMIM |
213700
|
| gptkbp:prevalence |
very rare
|
| gptkbp:prognosis |
improved with early treatment
progressive if untreated |
| gptkbp:symptom |
psychiatric symptoms
chronic diarrhea juvenile cataracts tendon xanthomas progressive neurological dysfunction intellectual decline |
| gptkbp:treatment |
statins
symptomatic therapy chenodeoxycholic acid |
| gptkbp:bfsParent |
gptkb:CYP7A1
|
| gptkbp:bfsLayer |
6
|