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gptkbp:instanceOf
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genetic disorder
multiple endocrine neoplasia syndrome
|
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gptkbp:alsoKnownAs
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gptkb:Multiple_Endocrine_Neoplasia_type_2B
MEN type 2B
|
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gptkbp:characterizedBy
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gptkb:pheochromocytoma
gptkb:medullary_thyroid_carcinoma
marfanoid habitus
mucosal neuromas
intestinal ganglioneuromatosis
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gptkbp:diagnosedBy
|
genetic testing
clinical features
|
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gptkbp:firstDescribed
|
gptkb:John_H._Sipple
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
MEN 2B
|
|
gptkbp:ICD-10_code
|
E31.2
|
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gptkbp:inheritance
|
autosomal dominant
|
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gptkbp:mutationAssociatedWith
|
gptkb:RET_gene
|
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gptkbp:OMIM
|
162300
|
|
gptkbp:onset
|
childhood or adolescence
|
|
gptkbp:prevalence
|
rare
|
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gptkbp:relatedTo
|
gptkb:familial_medullary_thyroid_carcinoma
MEN 2A
|
|
gptkbp:riskFactor
|
adrenal tumors
early onset medullary thyroid carcinoma
|
|
gptkbp:symptom
|
gastrointestinal symptoms
bumpy tongue
musculoskeletal abnormalities
thickened lips
|
|
gptkbp:treatment
|
prophylactic thyroidectomy
surgical removal of pheochromocytoma
|
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gptkbp:bfsParent
|
gptkb:Multiple_Endocrine_Neoplasia_type_2B
|
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gptkbp:bfsLayer
|
6
|