| Descriptor English: | Xanthomatosis, Cerebrotendinous | ||||||
| Descriptor Spanish: |
Xantomatosis Cerebrotendinosa
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| Descriptor Portuguese: | Xantomatose Cerebrotendinosa | ||||||
| Descriptor French: | Xanthomatose cérébrotendineuse | ||||||
| Entry term(s): |
Bogaert-Scherer-Epstein Disease, Van Cerebral Cholesterinoses Cerebral Cholesterinosis Cerebrotendinous Xanthomatoses Cerebrotendinous Xanthomatosis Disease, Van Bogaert-Scherer-Epstein Van Bogaert Scherer Epstein Disease Van Bogaert-Scherer-Epstein Disease Xanthomatoses, Cerebrotendinous |
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| Tree number(s): |
C16.320.565.398.925 C18.452.584.563.925 C18.452.584.750.975 C18.452.648.398.925 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D019294 | ||||||
| Scope note: | 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. |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Previous Indexing: |
Xanthomatosis (1968-1996) |
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| Public MeSH Note: | 97 |
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| History Note: | 97 |
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| DeCS ID: | 32957 | ||||||
| Unique ID: | D019294 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 1997/01/01 | ||||||
| Date of Entry: | 1996/06/10 | ||||||
| Revision Date: | 2013/07/08 |
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Xanthomatosis, Cerebrotendinous
- Preferred
| Concept UI |
M0028726 |
| Scope note | 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. |
| Preferred term | Xanthomatosis, Cerebrotendinous |
| Entry term(s) |
Bogaert-Scherer-Epstein Disease, Van Cerebral Cholesterinoses Cerebral Cholesterinosis Cerebrotendinous Xanthomatoses Cerebrotendinous Xanthomatosis Disease, Van Bogaert-Scherer-Epstein Van Bogaert Scherer Epstein Disease Van Bogaert-Scherer-Epstein Disease Xanthomatoses, Cerebrotendinous |
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