amelogenesis imperfecta, type 1J
MONDO:0015008Mondo
Findings
No curated finding names amelogenesis imperfecta, type 1J 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
6 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.
- Carious teethHPOHP:0000670
- 1 of 11 reported patients
- Increased overbiteHPOHP:0011094
- 1 of 11 reported patients
- Abnormal dentin morphologyHPOHP:0010299
- 0 of 11 reported patients
- Amelogenesis imperfectaHPOHP:0000705
- Enamel hypoplasiaHPOHP:0006297
- Widely spaced teethHPOHP:0000687
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.
- ACP4HGNC:14376
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of