IEMbase 0581: HAMP-related hepcidin deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 581 |
| Nosology | 22.2.03.01 |
| Gene | HAMP |
| External IDs | OMIM:602390; ORPHA:79230 |
| Generated mapping | MAPPED; Hemochromatosis.yaml |
| Candidate DisMech targets | Hemochromatosis.yaml#Type 2B |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents HAMP-related hepcidin deficiency, corresponding to hereditary hemochromatosis type 2B / HFE2B. The record is autosomal recessive, classified under disorders of iron metabolism, marked as a juvenile subtype, flagged as treatable, and lists iron chelation and phlebotomy.
Biochemical rows include increased serum ferritin, increased plasma glucose, increased transferrin saturation, and increased liver iron.
DisMech phenotype coverage
Hemochromatosis.yaml is the correct local target, specifically the Type 2B
subtype. It models juvenile-onset autosomal recessive HAMP-related
hemochromatosis, hepcidin insufficiency, increased intestinal iron absorption,
elevated transferrin saturation and ferritin, progressive iron accumulation in
liver and other organs, diabetes/hyperglycemia, and iron-depletion therapy by
phlebotomy or chelation when appropriate.
Concordance and completeness
Judgement: correct subtype-level mapping.
IEMbase and DisMech agree on HAMP, autosomal recessive juvenile hemochromatosis, hepcidin-pathway failure, transferrin saturation, ferritin, liver iron, glucose/diabetes risk, phlebotomy, and chelation. DisMech is stronger for systemic iron-distribution mechanism and downstream organ damage.
IEMbase provides a compact biomarker checklist for type 2B: ferritin, plasma glucose, transferrin saturation, and liver iron.
Curation actions
- Resolve this record to
Hemochromatosis.yaml#Type 2B. - Preserve the IEMbase subtype-specific iron-index and glucose rows as review prompts for any future HAMP branch enrichment.