Cerebrotendinous xanthomatosis

Preferred Label : Cerebrotendinous xanthomatosis;

Symbol : CTX;

CISMeF acronym : CTX;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cerebral cholesterinosis;

Description : Cerebrotendinous xanthomatosis is a rare inherited lipid-storage disease characterized clinically by progressive neurologic dysfunction (cerebellar ataxia beginning after puberty, systemic spinal cord involvement and a pseudobulbar phase leading to death), premature atherosclerosis, and cataracts. Large deposits of cholesterol and cholestanol are found in virtually every tissue, particularly the Achilles tendons, brain, and lungs. Cholestanol, the 5-alpha-dihydro derivative of cholesterol, is enriched relative to cholesterol in all tissues. The diagnosis can be made by demonstrating cholestanol in abnormal amounts in the serum and tendon of persons suspected of being affected. Plasma cholesterol concentrations are low normal in CTX patients. Dotti et al. (2001) examined the ophthalmologic findings of 13 CTX patients. In addition to cataracts, which were found in all cases, optic disc pallor was identified in 6 of the patients. Premature retinal senescence was also observed. In a tabular presentation, Moghadasian et al. (2002) compared and contrasted CTX with 2 other lipid disorders with certain similarities and clinical course: familial hypercholesterolemia (143890) and sitosterolemia (210250).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the cytochrome P450, subfamily XXVIIA, polypeptide 1 gene (CYP27A1, 213700.0001);

Laboratory abnormalities : Normal to slightly elevated plasma cholesterol; Elevated plasma cholestanol; Elevated urinary 7 alpha-hydroxylated bile alcohols; Sterol 27-hydroxylase deficiency;

Prefixed ID : #213700;

Details

Origin ID

213700;

UMLS CUI

C0238052;

Automatic exact mappings (from CISMeF team)
- CTX [NCIt concept]
- CYP27A1 wt Allele [NCIt concept]
- Chlorotoxin [NCIt concept]
- Crotoxin [NCIt concept]
- Cyclophosphamide [NCIt concept]
- Cyclophosphamide (substance) [SNOMED CT concept]
- 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 [ORDO Disease]
- Cholestanol storage disease (disorder) [SNOMED CT concept]
- cerebrotendinous xanthomatosis [DO Concept]
- cerebrotendinous xanthomatosis [Disease (Nov.)]
- cerebrotendinous xanthomatosis [Radlex concept]
- cholestanol storage disease [SNOMED Notion]
- xanthomatosis, cerebrotendinous [MeSH Descriptor]
- xanthomatosis, cerebrotendinous [MeSH concept]
DO Cross reference
- cerebrotendinous xanthomatosis [DO Concept]
False automatic mappings
- Cyclophosphamide [LOINC component]
- Product containing cyclophosphamide (medicinal product) [SNOMED CT concept]
- cyclophosphamide [SNOMED Notion]
Genes related to phenotype
- Cytochrome p450, subfamily xxviia, polypeptide 1 [OMIM gene]
HPO term(s)
- Abnormal circulating cholesterol concentration [HPO term]
- Abnormal dentate nucleus morphology [HPO term]
- Abnormal periventricular white matter morphology [HPO term]
- Abnormal pyramidal sign [HPO term]
- Abnormality of central somatosensory evoked potentials [HPO term]
- Angina pectoris [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Cholelithiasis [HPO term]
- Delusions [HPO term]
- Dementia [HPO term]
- Diarrhea [HPO term]
- EEG with generalized slow activity [HPO term]
- EMG: axonal abnormality [HPO term]
- Epilepsy [HPO term]
- Hallucinations [HPO term]
- Intellectual disability [HPO term]
- Myocardial infarction [HPO term]
- Optic disc pallor [HPO term]
- Osteoporosis [HPO term]
- Peripheral neuropathy [HPO term]
- Pseudobulbar paralysis [HPO term]
- Respiratory insufficiency [HPO term]
- Seizure [HPO term]
- Spasticity [HPO term]
- Tendon xanthomatosis [HPO term]
- Tuberous xanthoma [HPO term]
- Xanthelasma [HPO term]
ORDO concept(s)
- Cerebrotendinous xanthomatosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cerebrotendinous Xanthomatosis [NCIt concept]
- Cerebrotendinous xanthomatosis [ORDO Disease]
- 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]
- xanthomatosis, cerebrotendinous [MeSH Descriptor]
- xanthomatosis, cerebrotendinous [MeSH concept]

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