cerebrotendinous xanthomatosis

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• cerebrotendinous xanthomatosis — an autosomal recessive lipid storage disease caused by mutation in the CYP27A1 gene (locus: 2q33 qter), which encodes sterol 27 hydroxylase, an enzyme important in the bile synthesis pathway. It is characterized by xanthomas of the tendons, the… …   Medical dictionary

• Xanthomatosis — A condition in which fatty deposits occur in various parts of the body. These fatty deposits are called xanthomas or xanthomata and appear as yellowish firm nodules in the skin. Xanthomas are in themselves a harmless growth of tissue. However,… …   Medical dictionary

• Cerebrotendineous xanthomatosis — Classification and external resources ICD 10 E75.5 ICD 9 272.7 …   Wikipedia

• Normolipoproteinemic xanthomatosis — is a cutaneous condition characterized by a xanthoma in the presence of normal cholesterol and lipoprotein levels.[1]:535 See also Cerebrotendinous xanthomatosis Verruciform xanthoma Skin lesion References ^ James …   Wikipedia

• CYP27A1 — Cytochrome P450, family 27, subfamily A, polypeptide 1, also known as CYP27A1, is a vertebrate gene.cite web | title = Entrez Gene: CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1| url =… …   Wikipedia

• Familial hypercholesterolemia — Classification and external resources Xanthelasma palpebrarum, yellowish patches consisting of cholesterol deposits above the eyelids. These are more common in people with FH. ICD …   Wikipedia

• List of cutaneous conditions — This is an incomplete list, which may never be able to satisfy particular standards for completeness. You can help by expanding it with reliably sourced entries. See also: Cutaneous conditions, Category:Cutaneous conditions, and ICD 10… …   Wikipedia

• Medication-induced hyperlipoproteinemia — is a condition that results from the decreasing of lipoprotein lipase activity resulting in eruptive xanthomas.[1]:535 See also Normolipoproteinemic xanthomatosis Cerebrotendinous xanthomatosis Skin lesion References ^ …   Wikipedia

• CTX — cefotaxime; ceftriaxone; cerebrotendinous xanthomatosis; chemotaxis; ciguatoxin; clinical trials exemption scheme; costotendinous xanthomatosis; cytoxan …   Medical dictionary

• CTX — • cefotaxime; • ceftriaxone; • cerebrotendinous xanthomatosis; • chemotaxis; • ciguatoxin; • clinical trials exemption scheme; • costotendinous xanthomatosis; • cytoxan …   Dictionary of medical acronyms & abbreviations

• Dementia — For other uses, see Dementia (disambiguation). Dementia Classification and external resources ICD 10 F00 F07 ICD 9 …   Wikipedia