IEMbase 0582: TFR2-related transferrin receptor 2 deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 582 |
| Nosology | 22.2.04.01 |
| Gene | TFR2 |
| External IDs | OMIM:604250; ORPHA:225123 |
| Generated mapping | MAPPED; Hemochromatosis.yaml |
| Candidate DisMech targets | Hemochromatosis.yaml#Type 3 |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents TFR2-related transferrin receptor 2 deficiency, corresponding to hereditary hemochromatosis type 3 / HFE3. The record is autosomal recessive, classified under disorders of iron metabolism, marked as a juvenile subtype, has unknown treatability, and lists iron chelation and phlebotomy.
Biochemical rows include normal-to-increased ferritin, normal-to-increased transferrin saturation, normal-to-increased glucose, and normal-to-increased liver iron. Clinical rows include abdominal pain and hyperpigmentation.
DisMech phenotype coverage
Hemochromatosis.yaml is the correct local target, specifically the Type 3
subtype. It models biallelic TFR2-related hemochromatosis, increased intestinal
iron absorption, liver/heart/pancreas/endocrine organ iron accumulation,
transferrin saturation and ferritin elevation, abdominal pain, bronze
hyperpigmentation, diabetes or hyperglycemia, and phlebotomy with chelation as
a selected alternative.
Concordance and completeness
Judgement: correct subtype-level mapping.
IEMbase and DisMech agree on TFR2, autosomal recessive type 3 hemochromatosis, iron-index abnormalities, liver iron loading, glucose involvement, hyperpigmentation, abdominal pain, and iron-depletion therapy. The normal-to-increased IEMbase rows are useful because they preserve variable stage or penetrance at individual biomarker level.
Curation actions
- Resolve this record to
Hemochromatosis.yaml#Type 3. - Preserve IEMbase normal-to-high ferritin, transferrin-saturation, glucose, and liver-iron staging prompts for future subtype review.