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GENATLAS PHENOTYPE

last update : 27-12-2017

Symbol	PROTS
Location	14q32.33
Name	Proteus syndrome
Corresponding gene	AKT1
Main clinical features	severe disorder of asymmetric and disproportionate overgrowth of body parts, connective tissue nevi, epidermal nevi, dysregulated adipose tissue, and vascular malformations partial gigantism of the hands and/or feet, nevi, hemihypertrophy, subcutaneous tumors, macrocephaly or other skull anomalies, and possible accelerated growth and visceral affections
Genetic determination	not applicable
Related entries	. ELATTOPROTEUS syndrome
Function/system disorder	dermatology
	cardiovascular
	connective tissue
Type	malformation

Remark(s)

. mosaicism for a somatic activating mutation in the AKT1 gene (PMID: 21793738))