Nonne-Milroy disease

Common Name(s)

Nonne-Milroy disease, Hereditary lymphedema type I

Hereditary primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts. There may be accompanying nail and skin changes, such as nail dysplasia or papillomatosis. Onset is usually at birth or in early childhood but can occur later, and the severity is variable (summary by {10:Gordon et al., 2013} and {1:Balboa-Beltran et al., 2014}). Genetic Heterogeneity of Hereditary Primary Lymphedema Primary lymphedema is genetically heterogeneous: see also LMPH1B ({611944}), which maps to chromosome 6q16.2-q22.1; LMPH1C ({613480}), caused by mutation in the GJC2 gene ({608803}) on chromosome 1q42; and LMPH1D ({615907}), caused by mutation in the VEGFC gene ({601528}) on chromosome 4q34. See also hereditary lymphedema type II ({153200}), also known as Meige lymphedema. Lymphedema can also be a feature of syndromic disorders such as lymphedema-distichiasis syndrome ({153400}), which is caused by mutation in the FOXC2 gene ({602402}).
 

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Scientific Literature

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Validation Lymphoqol
 

Status: Recruiting

Condition Summary: Primary Lymhedema

 

Last Updated: 12 Aug 2013

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