IEMbase 0625: POGLUT1-related Dowling-Degos disease 4
Scope
| Field | Value |
|---|---|
| IEMbase ID | 625 |
| Nosology | 18.2.04.04 |
| Gene | POGLUT1 |
| External IDs | OMIM:615696; ORPHA:79145 |
| Generated mapping | UNMAPPED |
| Candidate DisMech targets | None exact; Epidermolysis_Bullosa_Simplex.yaml is a weak false candidate |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents POGLUT1-related Dowling-Degos disease 4 / POGLUT1-CDG / DDD4 as an autosomal dominant disorder with unknown treatability and no treatment rows.
The cached phenotype signal is dermatologic and sparse: normal serum sialotransferrins in childhood/adolescence, hyperkeratotic dark-brown papules, hyperpigmentation, and optional pruritus.
DisMech phenotype coverage
No exact POGLUT1-related Dowling-Degos disease entry was identified.
Epidermolysis_Bullosa_Simplex.yaml is a false candidate caused by the
"Dowling" lexical overlap with severe EBS formerly called Dowling-Meara; EBS is
not POGLUT1-related Dowling-Degos disease.
Concordance and completeness
Judgement: true local gap, with scope review because the IEMbase record is skin-predominant and has limited mechanistic phenotype rows.
The G2P triage data also flags POGLUT1-related Dowling-Degos disease as lacking a DisMech anchor, supporting this as a genuine entity gap rather than a mapping miss into EBS.
Curation actions
- Do not map to
Epidermolysis_Bullosa_Simplex.yaml. - Source-review whether POGLUT1/DDD4 should be curated as a standalone dermatologic CDG-related entity.
- Preserve hyperpigmentation, hyperkeratotic papules, pruritus, and normal sialotransferrin prompts if curated.