amelogenesis imperfecta type 1G
Findings
No curated finding names amelogenesis imperfecta type 1G yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure.
Definition from the Mondo Disease Ontology (MONDO:0008771), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
28 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
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- Delayed eruption of permanent teethHPOHP:0000696
- 4 of 4 reported patients
- Gingival fibromatosisHPOHP:0000169
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- Abnormal circulating calcium-phosphate regulating hormone concentrationHPOHP:0100530
- Very frequent (80% to 99% of cases)
- Abnormal dental enamel morphologyHPOHP:0000682
- Very frequent (80% to 99% 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.
- HGNC:23015HGNC:23015
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Ambry Genetics · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
10 names
Resolves to: amelogenesis imperfecta type 1G
- Also called
- AI1GAIGFSamelogenesis imperfecta and gingival fibromatosis syndromeamelogenesis imperfecta caused by mutation in FAM20Aamelogenesis imperfecta-gingival hyperplasia syndromeamelogenesis imperfecta, type IG (enamel-renal syndrome)enamel-renal syndromeenamel-renal-gingival syndromeERSFAM20A amelogenesis imperfecta