xanthomatosis, cerebrotendinous

Preferred Label : xanthomatosis, cerebrotendinous;

MeSH definition : An autosomal recessive lipid storage disorder due to mutation of the gene CYP27A1 encoding a CHOLESTANETRIOL 26-MONOOXYGENASE. It is characterized by large deposits of CHOLESTEROL and CHOLESTANOL in various tissues resulting in xanthomatous swelling of tendons, early CATARACT, and progressive neurological symptoms.;

MeSH synonym : cerebrotendinous xanthomatoses; cerebrotendinous xanthomatosis; xanthomatoses, cerebrotendinous; van bogaert-scherer-epstein disease; bogaert-scherer-epstein disease, van; disease, van bogaert-scherer-epstein; van bogaert scherer epstein disease; cerebral cholesterinosis; cerebral cholesterinoses;

Wikipedia automatic translation : Cerebrotendineous xanthomatosis;

Wikipedia link : https://en.wikipedia.org/wiki/Cerebrotendineous xanthomatosis;

Details

Origin ID

D019294;

UMLS CUI

C0238052;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- cytochrome P450 family 27 subfamily A member 1 [ORDO Gene]
- cytochrome P450 family 27 subfamily A member 1 [HGNC gene]
Currated CISMeF NLP mapping
- Cerebrotendinous Xanthomatosis [NCIt concept]
- Cerebrotendinous xanthomatosis [PASCAL descriptor]
- Cerebrotendinous xanthomatosis [ICD-11 More detail]
- Cerebrotendinous xanthomatosis [OMIM Phenotype]
- Cerebrotendinous xanthomatosis [ORDO Disease]
- Cholestanol storage disease (disorder) [SNOMED CT concept]
- cerebrotendinous xanthomatosis [Disease (Nov.)]
- cerebrotendinous xanthomatosis [DO Concept]
- cerebrotendinous xanthomatosis [Radlex concept]
- cholestanol storage disease [SNOMED Notion]
DO Cross reference
- cerebrotendinous xanthomatosis [DO Concept]
Has phenotype(s) (HPO)
- Epilepsy [HPO term]
Manual NTBT mappings (CISMeF)
- Autosomal recessive metabolic cerebellar ataxia [ORDO Disease]
- Cerebral lipidosis with dementia [ORDO Disease]
- Disorder of bile acid synthesis [ORDO Disease]
- Genetic neurodegenerative disease [ORDO Disease]
- Genetic subcutaneous tissue disorder [ORDO Disease]
- Metabolic disease with cataract [ORDO Disease]
- Metabolic disease with dementia [ORDO Disease]
- Neurometabolic disease [ORDO Disease]
- Rare dementia [ORDO Disease]
- Rare hereditary metabolic disease with peripheral neuropathy [ORDO Disease]
- Rare neurodegenerative disease [ORDO Disease]
- Rare syndromic dyslipidemia [ORDO Disease]
- Sterol metabolism disorder [ORDO Disease]
- Subcutaneous tissue disease [ORDO Disease]
ORDO relation(s)
- Cerebrotendinous xanthomatosis [ORDO Disease]
Record concept(s)
- xanthomatosis, cerebrotendinous [MeSH concept]
See also
- cholestanetriol 26-Monooxygenase [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cerebrotendinous Xanthomatosis [NCIt concept]
- Cerebrotendinous xanthomatosis [ORDO Disease]
- Cerebrotendinous xanthomatosis [OMIM Phenotype]
- Cerebrotendinous xanthomatosis [PASCAL descriptor]
- Cerebrotendinous xanthomatosis [ICD-11 More detail]
- Cholestanol storage disease (disorder) [SNOMED CT concept]
- cerebrotendinous xanthomatosis [Radlex concept]
- cerebrotendinous xanthomatosis [DO Concept]
- cerebrotendinous xanthomatosis [Disease (Nov.)]
- cholestanol storage disease [SNOMED Notion]

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