IEMbase 0202: SLC39A4-related acrodermatitis enteropathica
Scope
| Field | Value |
|---|---|
| IEMbase ID | 202 |
| Nosology | 22.4.01.01 |
| Gene | SLC39A4 |
| External IDs | OMIM:201100; ORPHA:37 |
| Generated mapping | UNMAPPED |
| Candidate DisMech targets | No direct target |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as SLC39A4-related acrodermatitis enteropathica, with alternate labels zinc-deficiency type and AEZ/AE. Treatability is marked yes.
The biochemical rows include decreased or low-normal serum zinc, decreased alkaline phosphatase, and decreased duodenal zinc uptake. Characteristic clinical rows include alopecia, anorexia, dermatitis, diarrhea, failure to thrive, and irritability. Additional rows include apathy, depression, and recurrent infections. The treatment row lists zinc supplementation increasing serum zinc.
DisMech phenotype coverage
No local DisMech entry covers SLC39A4-related acrodermatitis enteropathica. Search hits for zinc in other entries reflect unrelated zinc therapy, zinc-finger proteins, zinc metalloenzymes, or other zinc transporters such as SLC39A13 in spondylodysplastic EDS. These are not valid disease targets for SLC39A4 intestinal zinc-uptake deficiency.
Concordance and completeness
Judgement: true local disease gap.
IEMbase provides a compact but coherent treatable zinc-transport disorder profile: SLC39A4, low zinc/alkaline phosphatase, impaired duodenal uptake, periorificial/acral dermatitis implied by the disease label, alopecia, diarrhea, failure to thrive, irritability, infections, and response to zinc. DisMech currently has no canonical entry to receive those phenotypes.
Curation actions
- Do not map this record to unrelated zinc-associated entries.
- Consider a future SLC39A4/acrod. enteropathica entry under trace-element transport disorders.
- Seed that future entry with decreased serum zinc, decreased alkaline phosphatase, impaired intestinal/duodenal zinc uptake, alopecia, dermatitis, diarrhea, failure to thrive, irritability, recurrent infections, and zinc supplementation.