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Reference

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Cell types
Organisms
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A reference for what the literature reports. Not medical advice.

© 2026 CatalystPrivacy TermsReference data under the licences listed on the attribution page.

thiamine-responsive dysfunction syndrome

MONDO:0000152Mondo

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Findings

No curated finding names thiamine-responsive dysfunction syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

A disorder of thiamine metabolism and transport results from deficiency of thiamine metabolism, comprises a group of clinically and genetically heterogeneous encephalopathies with autosomal recessive inheritance.

Definition from the Mondo Disease Ontology (MONDO:0000152), read 2026-09-29. CC BY 4.0.

Where it sits

A kind of: disorder of thiamine metabolism and transport
Narrower terms (5): Amish lethal microcephaly
biotin-responsive basal ganglia disease
childhood encephalopathy due to thiamine pyrophosphokinase deficiency
progressive demyelinating neuropathy with bilateral striatal necrosis
thiamine-responsive megaloblastic anemia syndrome