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H01183
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Thiamine-responsive megaloblastic anemia
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... megaloblastic anemia, diabetes mellitus, and progressive sensorineural deafness, due to mutations in SLC19A2, encoding a high-affinity thiamine transporter protein. In addition to the cardinal components ...
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Inherited metabolic disorder
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SLC19A2 [HSA:10560] [KO:K14610]
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H01565
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Wernicke encephalopathy
Wernicke-Korsakoff syndrome
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... the chronic memory disorder, Korsakoff syndrome. Recent studies have suggested that an association exists between Wernicke encephalopathy and genetic polymorphisms in the thiamine transporter (SLC19A2).
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Endocrine and metabolic disease
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SLC19A2 [HSA:10560] [KO:K14610]
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