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GENATLAS PHENOTYPE

last update : 02-07-2010

Symbol	LMPH1C
Location	1q42.13
Name	lymphedema, hereditary, IC
Other name(s)	hereditary lymphedema I, type 2
Corresponding gene	GJC2
Other symbol(s)	HLMN2
Main clinical features	characterized by disabling and disfiguring swelling of the extremities, congenital edema of the lower limbs, usually bilaterally and below the knees many affected individuals had onset of lymphedema in childhood or adolescence sometimes associated with cellulitis, prominent veins, papillomatosis, upturned toenails, and hydrocele
Genetic determination	autosomal dominant
Function/system disorder	cardiovascular
Type	malformation

Remark(s)