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gptkbp:instanceOf
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genetic disorder
syndrome
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gptkbp:abbreviation
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gptkb:MAS
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gptkbp:affects
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gptkb:skin
endocrine system
skeletal system
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gptkbp:causedBy
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mutation in GNAS gene
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gptkbp:complication
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gptkb:Cushing's_syndrome
fractures
acromegaly
infertility
hyperthyroidism
gigantism
thyroid dysfunction
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gptkbp:eponymOf
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gptkb:Fuller_Albright
gptkb:Donovan_James_McCune
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gptkbp:firstDescribed
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gptkb:Fuller_Albright
gptkb:Donovan_James_McCune
1937
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gptkbp:frequency
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rare
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gptkbp:hasGeneticOrigin
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postzygotic mutation
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gptkbp:hasMosaicism
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somatic mosaicism
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gptkbp:hasOrphanetID
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ORPHA:377
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https://www.w3.org/2000/01/rdf-schema#label
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McCune-Albright syndrome
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gptkbp:ICD-10_code
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Q78.1
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gptkbp:inheritance
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sporadic
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gptkbp:OMIM
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174800
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gptkbp:onset
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childhood
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gptkbp:prevalence
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estimated 1 in 100,000 to 1 in 1,000,000
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gptkbp:symptom
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gptkb:fibrous_dysplasia_of_bone
precocious puberty
café-au-lait skin spots
endocrine hyperfunction
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gptkbp:treatment
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gptkb:bisphosphonates
hormone therapy
surgical intervention
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gptkbp:bfsParent
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gptkb:G_protein-coupled_receptor
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gptkbp:bfsLayer
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5
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