Cerebrotendinous xanthomatosis
MONDO:0008948Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction.
Also known as: CTX, CTx, cerebrotendinous xanthomatosis, cholestanol storage disease, sterol 27-hydroxylase deficiency, cerebral cholesterinosis
31 clinical trials for this condition and its sub-types, 6 tagged with Cerebrotendinous xanthomatosis itself.
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↑ Eye disorder
(3079)
↑ Hereditary peripheral neuropathy
(479)
↑ Syndromic dyslipidemia
(73)
↑ Leukodystrophy
(72)
↑ Subcutaneous tissue disorder
(64)
↑ Cerebral lipidosis with dementia
(38)
↑ Inborn disorder of bile acid synthesis
(12)
↑ Autosomal recessive metabolic cerebellar ataxia
(10)
↑ Xanthomatosis
(8)
↑ Cholesterol catabolic process disease
(6)