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gptkbp:instanceOf
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gptkb:syndrome
gptkb:genetic_disorder
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gptkbp:abbreviation
|
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
|
gptkb:Fuller_Albright
gptkb:Donovan_James_McCune
1937
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gptkbp:frequency
|
rare
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gptkbp:hasGeneticOrigin
|
postzygotic mutation
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gptkbp:hasMosaicism
|
somatic mosaicism
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gptkbp:hasOrphanetID
|
ORPHA:377
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gptkbp:ICD-10_code
|
Q78.1
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gptkbp:inheritance
|
sporadic
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gptkbp:OMIM
|
174800
|
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gptkbp:onset
|
childhood
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gptkbp:prevalence
|
estimated 1 in 100,000 to 1 in 1,000,000
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gptkbp:symptom
|
gptkb:fibrous_dysplasia_of_bone
precocious puberty
café-au-lait skin spots
endocrine hyperfunction
|
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gptkbp:treatment
|
gptkb:bisphosphonates
hormone therapy
surgical intervention
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gptkbp:bfsParent
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gptkb:fibrous_dysplasia
gptkb:GNAS
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gptkbp:bfsLayer
|
7
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https://www.w3.org/2000/01/rdf-schema#label
|
McCune-Albright syndrome
|