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RGD uses the Human Disease Ontology (DO, for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:cerebrotendinous xanthomatosis
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Accession:DOID:4810 term browser browse the term
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.
Synonyms:exact_synonym: CTX;   Cerebral Cholesterinosis;   Cerebrotendinous Xanthomatoses;   Cholestanol storage disease;   Van Bogaert Scherer Epstein disease;   cerebral cholesterinoses
 primary_id: MESH:D019294
 alt_id: OMIM:213700
 xref: GARD:5622;   NCI:C84628
For additional species annotation, visit the Alliance of Genome Resources.

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cerebrotendinous xanthomatosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 ISO OMIM:213700, R446C, R362C
ClinVar Annotator: match by OMIM:213700
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar Annotator: match by term: Cholestanol storage disease
PMID:2019602, PMID:7915755, PMID:8006521, PMID:8014582, PMID:8514861, PMID:8730343, PMID:8827518, PMID:8931710, PMID:8950197, PMID:9008528, PMID:9186905, PMID:9254865, PMID:9392430, PMID:9521761, PMID:9548584, PMID:9790667, PMID:10406988, PMID:10430841, PMID:10519880, PMID:10741487, PMID:10775536, PMID:11181744, PMID:11737215, PMID:11903362, PMID:12000359, PMID:12117727, PMID:12270007, PMID:12555943, PMID:12933951, PMID:14741198, PMID:14999499, PMID:15795599, PMID:16157755, PMID:16278884, PMID:16816916, PMID:17030721, PMID:17319284, PMID:17444890, PMID:17697869, PMID:18227423, PMID:18414213, PMID:19204079, PMID:19373932, PMID:19801147, PMID:20301583, PMID:20402754, PMID:20450308, PMID:20558929, PMID:20925952, PMID:20981092, PMID:21073839, PMID:21228398, PMID:21345536, PMID:21404287, PMID:21553098, PMID:21627786, PMID:21645175, PMID:21764626, PMID:21955034, PMID:21958693, PMID:21966169, PMID:22197981, PMID:22336472, PMID:22849591, PMID:22878431, PMID:23212406, PMID:23287330, PMID:23659550, PMID:24002088, PMID:24033266, PMID:24080357, PMID:24174808, PMID:24584636, PMID:24627108, PMID:24746394, PMID:25112387, PMID:25447658, PMID:25525159, PMID:25741868, PMID:25862734, PMID:25941960, PMID:25983621, PMID:26156051, PMID:26206375, PMID:26467025, PMID:26519892, PMID:26622071, PMID:26643207, PMID:26861945, PMID:26906304, PMID:26937392, PMID:27084087, PMID:27142713, PMID:27225395, PMID:27455001, PMID:27535533, PMID:27678445, PMID:27858369, PMID:27878435, PMID:27879219, PMID:27884173, PMID:28337550, PMID:28492532, PMID:28590052, PMID:28623566, PMID:28894950, PMID:29095540, PMID:29242796, PMID:29269672, PMID:29321515, PMID:29434128, PMID:30311386, PMID:2019602 RGD:1600872 NCBI chr 9:81,968,285...81,998,213
Ensembl chr 9:81,968,332...81,998,169
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        lipid metabolism disorder 899
          cerebrotendinous xanthomatosis 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          inherited metabolic disorder 2237
            lipid metabolism disorder 899
              lipid storage disease 465
                xanthomatosis 3
                  cerebrotendinous xanthomatosis 1
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.