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GENATLAS PHENOTYPE

last update : 15-09-2014

Symbol	HLMN1
Location	5q35.3
Name	hereditary lymphedema I, type 1
Other name(s)	lymphedema, early-onset primary congenital lymphedema Milroy disease
Corresponding gene	FLT4
Other symbol(s)	PCL
Main clinical features	characterized by disabling and disfiguring swelling of the extremities, congenital edema of the lower limbs, usually bilaterally and below the knees sometimes associated with cellulitis, prominent veins, papillomatosis, upturned toenails, and hydrocele in utero, associated to hydrops fetalis
Genetic determination	autosomal dominant
Related entries	including congenital form (Milroy-Nonne disease)
Function/system disorder	cardiovascular
Type	disease

Gene product

Name	fms-related tyrosine kinase 4 (VEGFR3)

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
missense			leading to tyrosine-kinase inactivation, in Milroy disease

Remark(s)

. no mutations were found outside the kinase domains (Connell 2009)