amelogenesis imperfecta, type 3A
Findings
No curated finding names amelogenesis imperfecta, type 3A yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any amelogenesis imperfecta in which the cause of the disease is a mutation in the FAM83H gene.
Definition from the Mondo Disease Ontology (MONDO:0007538), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
3 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.
- Amelogenesis imperfectaHPOHP:0000705
- Anterior open-bite malocclusionHPOHP:0009102
- Dental malocclusionHPOHP:0000689
Genes
4 genes
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.
- SACK1HHGNC:24797
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- HGNC:33188HGNC:33188
- Supportive · Orphanet · Autosomal dominant · 2021
- ITGB6HGNC:6161
- Supportive · Orphanet · Autosomal dominant · 2021
- SLC24A4HGNC:10978
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
4 names
Resolves to: amelogenesis imperfecta, type 3A
- Also called
- ADHCAIAI3amelogenesis imperfecta caused by mutation in FAM83HFAM83H amelogenesis imperfecta