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Pathway Description
CHILD Syndrome
Homo sapiens
Disease Pathway
Created: 2022-11-08
Last Updated: 2023-10-25
CHILD Syndrome, (Congenital Hemidysplasia with Icthyosiform Erythroderma and Limb Defects; Ichthyosiform Eruthroderma, Unilateral, with Epsilateral Malformations, Especially Absence Deformity of Limbs) is caused by a mutation in the gene encoding NADH steroid dehydrogenase-like protein (NSDHL). A defect in sterol-4 alpha-carboxylate 3-dehydrogenase, which normally catalyzes the reaction 3-beta-hydroxy-4-beta-methyl-5-alpha-cholest-7-ene-4-alpha-carboxylate + NAD+ = 4-alpha-methyl-5-alpha-cholest-7-en-3-one + CO2 + NADH, causes accumulation of 8(9)cholestenol and 8-dehydrocholesterol in plasma. Symptoms of CHILD syndrome include hearing defects, hemidysplasia, unilateral hypomelia, ichthyosiform nevi, limb abnormalities, lung hypoplasia, and punctate calcifications.
References
CHILD Syndrome References
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Pubmed: 29939590
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Pubmed: 10710235
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Pubmed: 14574404
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Pubmed: 11313768
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Pubmed: 14730012
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Pubmed: 10369261
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Pubmed: 8663599
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Pubmed: 10191291
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