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References OMIM Gene GeneReviews HGMD HGNC
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