blistering, acantholytic, of oral and laryngeal mucosa
MONDO:0030986Mondo
Findings
No curated finding names blistering, acantholytic, of oral and laryngeal mucosa yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
2 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.
- Erosion of oral mucosaHPOHP:0031446
- 1 of 1 reported patient · Congenital onset
- Oral mucosal blistersHPOHP:0200097
- 1 of 1 reported patient · Congenital onset
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.
- DSG3HGNC:3050
- Moderate · G2P · Autosomal recessive · 2025
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: blistering, acantholytic, of oral and laryngeal mucosa
- Also called
- ABOLM