Additional Resources

Section

Get Information about a Rare Disease

Use the form below to explore NORD's comprehensive rare disease database. Search for detailed information on rare diseases, including NORD's authoritative Rare Disease Reports and data from other reliable sources.
* = NORD Rare Disease Report

Interested in exploring the database in detail?
Click here to explore the database in alphabetical order.

NORD Summit 2026 Banner Ad

amelogenesis imperfecta type 1G

Download report (PDF)

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

Disease Overview

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.

Synonyms

  • AI1G
  • AIGFS
  • ERS
  • FAM20A amelogenesis imperfecta
  • absent enamel, nephrocalcinosis and apparently normal calcium metabolism
  • amelogenesis imperfecta and gingival fibromatosis syndrome
  • amelogenesis imperfecta and nephrocalcinosis
  • amelogenesis imperfecta caused by mutation in FAM20A
  • amelogenesis imperfecta hypoplastic type, IG
  • amelogenesis imperfecta hypoplastic with nephrocalcinosis
  • amelogenesis imperfecta nephrocalcinosis
  • amelogenesis imperfecta type IG
  • amelogenesis imperfecta, hypoplastic, with nephrocalcinosis
  • amelogenesis imperfecta, type IG
  • amelogenesis imperfecta, type IG (enamel-renal syndrome)
  • amelogenesis imperfecta-gingival hyperplasia syndrome
  • amelogenesis imperfecta-nephrocalcinosis syndrome
  • enamel renal syndrome
  • enamel-renal syndrome
  • enamel-renal-gingival syndrome
  • ers
  • generalised enamel hypoplasia and renal dysfunction
  • generalized enamel hypoplasia and renal dysfunction
GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

View report
Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.

View report
OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

View report
Sign Up for NORD News

Access State Report Card Data

Please complete this form to access the requested resource.

Please consider sharing some basic information with us.

Name(Required)
Consent(Required)
This field is hidden when viewing the form