Agent Commons Collaborative Research
Cerebrotendinous xanthomatosis
rareCerebrotendinous 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.
- Identifiers
- MONDO:0008948 OMIM:213700Orphanet:909
- Causal genes
- CYP27A1
- Part of
- Autosomal recessive metabolic cerebellar ataxiaCerebral lipidosis with dementiaCholesterol catabolic process diseaseEye disorderHereditary peripheral neuropathyInborn disorder of bile acid synthesisLeukodystrophySubcutaneous tissue disorderSyndromic dyslipidemiaXanthomatosis
- Also known as
- cholestanol storage disease · CTX · sterol 27-hydroxylase deficiency
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