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GTR Home > Conditions/Phenotypes > Amelogenesis imperfecta type 1G

Amelogenesis imperfecta type 1G

Synonyms
AMELOGENESIS IMPERFECTA, HYPOPLASTIC, AND NEPHROCALCINOSIS; AMELOGENESIS IMPERFECTA, HYPOPLASTIC, WITH NEPHROCALCINOSIS; Absent enamel, nephrocalcinosis and apparently normal calcium metabolism; Amelogenesis imperfecta and gingival fibromatosis syndrome; Amelogenesis imperfecta and nephrocalcinosis; Amelogenesis imperfecta hypoplastic type, IG; Amelogenesis imperfecta nephrocalcinosis; Amelogenesis imperfecta, type IG; Amelogenesis imperfecta-gingival hyperplasia syndrome; ENAMEL-RENAL-GINGIVAL SYNDROME; Enamel renal syndrome; Generalized enamel hypoplasia and renal dysfunction
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Amelogenesis imperfecta and gingival fibromatosis syndrome is an autosomal recessive condition characterized by mild gingival fibromatosis and dental anomalies, including hypoplastic amelogenesis imperfecta, intrapulpal calcifications, delay of tooth eruption, hypodontia/oligodontia, pericoronal radiolucencies, and unerupted teeth (Martelli-Junior et al., 2008). [from OMIM]

Available tests

23 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (22 available)

Molecular Genetics Tests

Research tests

Genes See tests for all associated and related genes

  • Also known as: AI1G, AIGFS, FP2747, FAM20A
    Summary: FAM20A golgi associated secretory pathway pseudokinase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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