acrodermatitis enteropathica
Findings
No curated finding names acrodermatitis enteropathica yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure.
Definition from the Mondo Disease Ontology (MONDO:0008713), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
35 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Dry skinHPOHP:0000958
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- Perianal erythemaHPOHP:0033195
- 2 of 2 reported patients · Childhood onset
- Perioral erythemaHPOHP:0033194
- 2 of 2 reported patients
- Abnormal blistering of the skinHPOHP:0008066
- Very frequent (80% to 99% of cases)
- Abnormal eyebrow morphologyHPO · MondoHP:0000534
- Very frequent (80% to 99% of cases)
- Abnormal eyelid morphologyHPOHP:0000492
- Very frequent (80% to 99% of cases)
Show the remaining 23
- PustuleHPOHP:0200039
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Decreased serum zincHPOHP:0031831
- 19 of 24 reported patients
- Abnormal nail morphologyHPOHP:0001597
- Frequent (30% to 79% of cases)
- Abnormality of the tongueHPOHP:0000157
- Frequent (30% to 79% of cases)
- BlepharitisHPOHP:0000498
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SLC39A4HGNC:17129
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · ClinGen · Autosomal recessive · 2024
- Definitive · G2P · Autosomal recessive · 2018
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: acrodermatitis enteropathica
- Also called
- acrodermatitis enteropathica, zinc deficiency typeAEZinherited zinc deficiency