Amelogenesis imperfecta and gingival fibromatosis syndrome

Preferred Label : Amelogenesis imperfecta and gingival fibromatosis syndrome;

Obsolete resource : true;

Moved to : 204690;

Alternative titles and symbols : Aigfs;

Description : 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).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the family with sequence similarity 20, membera gene (fam20a, 611062.0001);

Laboratory abnormalities : Normal serum calcium;

Prefixed ID : 614253;

Details

Origin ID

614253;

Currated CISMeF NLP mapping
- Amelogenesis imperfecta-gingival hyperplasia syndrome [ORDO Disease]
False automatic mappings
- FGF8 wt Allele [NCIt concept]
- Fibroblast Growth Factor 8 [NCIt concept]
ORDO concept(s)
- Amelogenesis imperfecta-gingival hyperplasia syndrome [ORDO Disease]

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