IEMbase 0022: HPD-related Hawkinsinuria
Scope
| Field | Value |
|---|---|
| IEMbase ID | 22 |
| Nosology | 1.4.04.01 |
| Gene | HPD |
| External IDs | OMIM:140350 |
| Generated mapping | UNMAPPED; best fuzzy candidate Alkaptonuria at 0.511 |
| Candidate DisMech targets | No current standalone target; Alkaptonuria.yaml is a false-positive candidate |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents Hawkinsinuria, an HPD change-of-function disorder rather than classic HPD loss-of-function tyrosinemia type III. Clinical features are sparse and early: infantile failure to thrive, hepatopathy, and radiohumeral synostosis.
The biochemical profile is distinctive: urinary hawkinsin, urinary 4-hydroxycyclohexylacetic acid, urinary 5-oxoproline, and infantile increases in tyrosine and selected p-hydroxyphenyl organic acids. No treatment row is present in the cached IEMbase record.
DisMech phenotype coverage
There is no current DisMech entry for Hawkinsinuria. Alkaptonuria.yaml is an
inappropriate candidate despite shared tyrosine-pathway vocabulary: it is
HGD-related homogentisic-acid ochronosis, not HPD-related hawkinsin excretion,
infantile hepatopathy, or radiohumeral synostosis.
Concordance and completeness
Judgement: unmapped disease-level gap. This should remain unmapped rather than being forced into alkaptonuria or tyrosinemia type I.
IEMbase provides a useful future-entry checklist: HPD change of function, failure to thrive, hepatopathy, radiohumeral synostosis, urinary hawkinsin, 4-hydroxycyclohexylacetic acid, and 5-oxoproline.
Curation actions
- Do not map this record to
Alkaptonuria.yaml. - Add a future standalone Hawkinsinuria entry if this disease is prioritized.
- Preserve the distinction between HPD deficiency/tyrosinemia type III and HPD change-of-function Hawkinsinuria in any future crosswalk logic.