IEMbase 0205: neonatal hemochromatosis
Scope
| Field | Value |
|---|---|
| IEMbase ID | 205 |
| Nosology | 22.2.17.01 |
| Gene | NOGENE |
| External IDs | OMIM:231100; ORPHA:446 |
| Generated mapping | UNMAPPED |
| Candidate DisMech targets | Hemochromatosis.yaml is a false-positive pathway/label neighbor |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as neonatal hemochromatosis, with alternate labels congenital alloimmune hepatitis and NH. Treatability is marked unknown.
The biochemical rows include increased serum ferritin, increased liver iron, and increased transferrin saturation. The characteristic clinical row is liver fibrosis. No additional clinical or treatment rows are listed in this cached record.
DisMech phenotype coverage
Hemochromatosis.yaml is not a valid target for this record. The local entry
models hereditary hemochromatosis due to HFE and non-HFE hepcidin-pathway genes
such as HJV, HAMP, TFR2, BMP6, and SLC40A1. IEMbase 0205 instead represents a
neonatal/congenital alloimmune liver disease label with no causal gene and a
neonatal iron-overload/liver-fibrosis phenotype. That entity should not be
collapsed into adult or juvenile inherited hepcidin-deficiency hemochromatosis.
Concordance and completeness
Judgement: true local gap; generated best candidate is not equivalent.
IEMbase and local hemochromatosis share generic iron-overload terms such as high ferritin, high liver iron, high transferrin saturation, and fibrosis. The identity, scope, and mechanism differ: neonatal hemochromatosis/congenital alloimmune hepatitis is not HFE/HJV/HAMP/TFR2-type hereditary hemochromatosis.
Curation actions
- Do not map this record to
Hemochromatosis.yaml. - Consider a future neonatal hemochromatosis / gestational alloimmune liver disease entry if this entity is in DisMech scope.
- Seed that future entry with neonatal liver fibrosis, high ferritin, high hepatic iron, high transferrin saturation, and the congenital alloimmune hepatitis/GALD scope distinction.