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McCune Albright syndrome

Summary
Synonym
  • fibrous dysplasia of bone
  • osteitis fibrosa disseminata
  • polyostotic fibrous dysplasia
Definition
A syndrome that is characterized by polyostotic fibrous dysplasia, precocious puberty, and café-au-lait spots and has_material_basis_in spontaneous post zygotic missense mutation at ARG201 or Gln227 of the GNAS gene during embryogenesis.
Super Class
autosomal genetic disease syndrome
Disease Ontology
DOID:1858
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 5 entries
Gene ID Gene Symbol Description Source
2770 GNAI1 G protein subunit alpha i1
2771 GNAI2 G protein subunit alpha i2
2773 GNAI3 G protein subunit alpha i3
3486 IGFBP3 insulin like growth factor binding protein 3
346562 GNAT3 G protein subunit alpha transducin 3
Displaying all 5 entries
Gene ID Gene Symbol Description Source
14677 Gnai1 G protein subunit alpha i1
14678 Gnai2 G protein subunit alpha i2
14679 Gnai3 G protein subunit alpha i3
14681 Gnao1 guanine nucleotide binding protein, alpha O
16009 Igfbp3 insulin-like growth factor binding protein 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
24484 Igfbp3 insulin-like growth factor binding protein 3
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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