hereditary lymphoedema

'hereditary lymphoedema' can also refer to...


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A complex of disorders in which there is lymphoedema. Type 1A (Milroy's disease) is an autosomal dominant disorder caused by mutation in the FLT4 gene, the product of which is the vascular endothelial growth factor receptor-3. Type IB has a similar phenotype but the mutation is not in FLT4 (a candidate locus has been identified). Type II (Meige lymphoedema) in which oedema, particularly severe below the waist, develops about the time of puberty, is caused by mutation in the forkhead family transcription factor gene MFH1 (FOXC2). Lymphoedema–distichiasis syndrome is an autosomal dominant disorder in which there is lymphoedema of the limbs and double rows of eyelashes (distichiasis). It seems to be an allelic variant of type II lymphoedema caused by mutation in the same gene, as are lymphoedema and ptosis and lymphoedema and yellow nail syndrome.

Subjects: Medicine and Health.

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