amelogenesis imperfecta type 1G

Summary
Synonym
  • AI1G
  • AIGFS
  • ERS
  • amelogenesis imperfecta and gingival fibromatosis syndrome
  • amelogenesis imperfecta hypoplastic with nephrocalcinosis
  • amelogenesis imperfecta type IG
  • enamel-renal syndrome
  • enamel-renal-gingival syndrome
Definition
An amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the FAM20A gene on chromosome 17q24.
Super Class
amelogenesis imperfecta autosomal recessive disease
Disease Ontology
DOID:0110066
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
54757 FAM20A FAM20A golgi associated secretory pathway pseudokinase
Displaying 1 entry
Gene ID Gene Symbol Description Source
208659 Fam20a FAM20A, golgi associated secretory pathway pseudokinase
Displaying 1 entry
Gene ID Gene Symbol Description Source
42784 CG31145 uncharacterized protein
Displaying 1 entry
Gene ID Gene Symbol Description Source
181616 famk-1 Extracellular serine/threonine protein kinase CeFam20

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024