Cerebrotendinous Xanthomatosis malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Liver diseases, Skin diseases, Metabolic diseases, Endocrine diseases
49OMIM, 10Disease Ontology, 11diseasecard, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 24GTR, 36MeSH, 65UMLS, 47Novoseek, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
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Aliases & Descriptions for Cerebrotendinous Xanthomatosis:
Orphanet epidemiological data:51
Inheritance: Autosomal recessive; Prevalence: 1-9/100000,<1/1000000 (Spain),1-9/100000 (United States); Age of onset: Infancy,Neonatal; Age of death: adult
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Neuronal diseases, Eye diseases, Liver diseases, Skin diseases, Endocrine diseases
Rare neurological diseases
Rare eye diseases
Rare hepatic diseases
Rare skin diseases
Inborn errors of metabolism
Rare endocrine diseases
OMIM:49 Cerebrotendinous xanthomatosis is a rare inherited lipid-storage disease characterized clinically by progressive... (213700) more...
MalaCards based summary: Cerebrotendinous Xanthomatosis, also known as ctx, is related to sitosterolemia and xanthomatosis, and has symptoms including cognitive impairment, involuntary movements and multiple lipomas. An important gene associated with Cerebrotendinous Xanthomatosis is CYP27A1 (Cytochrome P450 Family 27 Subfamily A Member 1), and among its related pathways are PPAR signaling pathway and Statin Pathway. Affiliated tissues include brain, bone and lung, and related mouse phenotype liver/biliary system.
Disease Ontology:10 A xanthomatosis that is characterized by a deficiency in the production of the bile acid, chenodeoxycholic acid that has material basis in autosomal recessive inheritance and results in cholestanol deposition in the brain and other tissues and with elevated levels of cholesterol in plasma.
NIH Rare Diseases:45 Cerebrotendinous xanthomatosis is a type of lipid storage disease. symptoms of this condition include diarrhea in infants, cataracts in children, tendon xanthomas, and progressive neurologic dysfunction. it is caused by mutations in the cyp27a1 gene. treatment may involve chenodeoxycholic acid (cdca), inhibitors of hmg-coa reductase, and surgery to remove cataracts. last updated: 9/12/2013
UniProtKB/Swiss-Prot:67 Cerebrotendinous xanthomatosis: Rare sterol storage disorder characterized clinically by progressive neurologic dysfunction, premature atherosclerosis, and cataracts.
Genetics Home Reference:23 Cerebrotendinous xanthomatosis is a fat (lipid) storage disorder that affects many areas of the body. People with this disorder cannot break down certain lipids effectively, specifically different forms of cholesterol, so these fats accumulate in various areas of the body. Xanthomatosis refers to the formation of fatty yellow nodules (xanthomas). Cerebrotendinous refers to the typical locations of the xanthomas (cerebro- meaning the brain and -tendinous meaning connective tissue called tendons that attach muscle to bone).
GeneReviews summary for NBK1409
Symptoms by clinical synopsis from OMIM:213700
Clinical features from OMIM:213700
Symptoms:51 (show all 31)
HPO human phenotypes related to Cerebrotendinous Xanthomatosis:(show all 49)
UMLS symptoms related to Cerebrotendinous Xanthomatosis:muscle spasticity, cerebellar ataxia
Drugs for Cerebrotendinous Xanthomatosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 21)
Interventional clinical trials:
Search NIH Clinical Center for Cerebrotendinous Xanthomatosis
MalaCards organs/tissues related to Cerebrotendinous Xanthomatosis:33
Brain, Bone, Lung, Liver, Spinal cord, Prostate, Eye
Articles related to Cerebrotendinous Xanthomatosis:(show top 50) (show all 387)
UniProtKB/Swiss-Prot genetic disease variations for Cerebrotendinous Xanthomatosis:67
Clinvar genetic disease variations for Cerebrotendinous Xanthomatosis:5 (show all 62)
Search GEO for disease gene expression data for Cerebrotendinous Xanthomatosis.
Pathways related to Cerebrotendinous Xanthomatosis according to GeneCards Suite gene sharing:(show all 18)
Biological processes related to Cerebrotendinous Xanthomatosis according to GeneCards Suite gene sharing:
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet