amelogenesis imperfecta type 1G
MeSH: C538241ORPHA: 1031
Overview
amelogenesis imperfecta that has material basis in homozygous or compound heterozygous mutation in the FAM20A gene on chromosome 17q24
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with amelogenesis imperfecta type 1G, sourced from HPO and Orphanet clinical annotations.
NephropathyNephrocalcinosisGingival overgrowthAbnormal dental enamel morphologyDelayed eruption of teethAmelogenesis imperfectaYellow-brown discoloration of the teethAbnormality of dental colorIncreased circulating osteocalcin levelAbnormal circulating calcium-phosphate regulating hormone concentrationRenal insufficiencyGingival fibromatosisEnuresisHypocalciuriaElevated circulating alkaline phosphatase concentrationPulp calcificationImpaired renal concentrating abilityImpacted toothHypophosphaturiaHypocitraturiaMacroglossiaPeriodontitisAnterior open-bite malocclusionTooth agenesisDecreased serum creatinineSupernumerary tooth
Classification & Codes
MeSH Code
C538241Orphanet Code
ORPHA:1031amelogenesis imperfecta type 1G
| MeSH | C538241 |
| Orphanet | ORPHA:1031 |
| Treatments | 0 drug(s) |
| Symptoms on record | 26 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO