Component
Thiamine-responsive megaloblastic anemia syndrome phenotype
Human phenotype including megaloblastic anemia, diabetes and sensorineural deafness.
1 recorded relationships. Experimental role, claim status and evidence remain attached to each record.
How nutrients influence it
Every nutrient with a recorded effect on this component, credited to the nutrient that acted rather than the chapter that recorded it. Open a nutrient to see the findings and the conditions they were measured under.
Other things that act on it
Enzymes, hormones, genes, and other components with a recorded effect. These are not nutrients, so they do not count toward the arrows above. Each finding names the chapter that recorded it.
How nutrients reach it in more than one step
Chains of two or more recorded steps that end here, grouped by the nutrient they start from. Each step is a separate finding, so a chain is a route a mechanism could take, not proof that it does.
Tracing routes…
What it does
Every recorded relationship this component is part of, grouped by its role. Plain wording comes first; the technical statement follows.
What acts on it
Two exon-2 frameshifting SLC19A2 variants were identified among four Iranian TRMA families.
Experimental context and source evidence
- availability_state
- machinery_impairment Imported condition classification; unverified.
- evidence-scope
- Clinical genetics
- evidence_locator
- Abstract
- evidence_spans
- [{"source_document": "artifacts/thiamine_transport_sources/diaz-1999-trma-source-record.json", "source_field": "resultList.result[0].abstractText", "start_char": 0, "end_char": 1218}]
- experimental_model
- Four Iranian TRMA families; linkage and SLC19A2 sequencing.
- limitations
- Family genetics; individual tissue mechanisms were not directly tested.
- nutrient_topic
- Thiamine research collection; topical membership is not evidence of a direct dietary effect. · Thiamine (vitamin B1)
- organism
- Homo sapiens
- plain_language
- Inherited disruption of B1 transport accompanies anemia, diabetes and deafness.
- primary_references
- [diaz-1999-trma] Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome (1999). https://www.nature.com/articles/ng0799_309 DOI: 10.1038/10385
- tissue_or_cell_type
- Clinical genetics
- trigger_kind
- machinery_impairment Imported condition classification; unverified.
Thiamine: mechanisms, deficiency and nutrient interactions (2026-09-17) · lines 149–161
AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. Not publisher full text. · supports · Four Iranian TRMA families; linkage and SLC19A2 sequencing. · source_derived_draft · unverified_draft
### b1-slc19a2-frameshift-trma Two exon-2 frameshifting SLC19A2 variants were identified among four Iranian TRMA families. Condition category: machinery_impairment nutrient_topic: Thiamine research collection; topical membership is not evidence of a direct dietary effect. plain_language: Inherited disruption of B1 transport accompanies anemia, diabetes and deafness. organism: Homo sapiens tissue_or_cell_type: Clinical genetics experimental_model: Four Iranian TRMA families; linkage and SLC19A2 sequencing. limitations: Family genetics; individual tissue mechanisms were not directly tested. evidence_spans: [{"source_document": "artifacts/thiamine_transport_sources/diaz-1999-trma-source-record.json", "source_field": "resultList.result[0].abstractText", "start_char": 0, "end_char": 1218}] evidence_locator: Abstract evidence-scope: Clinical genetics [diaz-1999-trma] Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome (1999). https://www.nature.com/articles/ng0799_309 DOI: 10.1038/10385
Complete structured claim and evidence
The events it takes part in
A mechanism often involves more than two components. These are the full events, with every participant and its role.
Situations it appears in
Low-supply and faulty-machinery situations recorded in the chapters where this component plays a part.
In the sources
Preserved passages that mention this component, quoted exactly. Open one to read it in context.
Open hypotheses
Proposed ideas that involve this component. They are labeled as hypotheses and do not change any recorded statement.
This is a research prototype built from draft material. It is not medical advice, and its statements still await verification against the original studies.