Lymphatic Malformation 1 (LMPHM1)

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OMIM 57 153100 PS153100 MeSH 44 D008209 ICD10 via Orphanet 34 Q82.0

UMLS via Orphanet 73 C1704423 Orphanet 59 ORPHA79452 MedGen 42 C1704423

Genetics Home Reference : ²⁵ Milroy disease is a condition that affects the normal function of the lymphatic system. The lymphatic system produces and transports fluids and immune cells throughout the body. Impaired transport with accumulation of lymph fluid can cause swelling (lymphedema). Individuals with Milroy disease typically have lymphedema in their lower legs and feet at birth or develop it in infancy. The lymphedema typically occurs on both sides of the body and may worsen over time. Milroy disease is associated with other features in addition to lymphedema. Males with Milroy disease are sometimes born with an accumulation of fluid in the scrotum (hydrocele). Males and females may have upslanting toenails, deep creases in the toes, wart-like growths (papillomas), and prominent leg veins. Some individuals develop non-contagious skin infections called cellulitis that can damage the thin tubes that carry lymph fluid (lymphatic vessels). Episodes of cellulitis can cause further swelling in the lower limbs.

MalaCards based summary : Lymphatic Malformation 1, also known as milroy disease, is related to congenital lymphedema and hereditary lymphedema. An important gene associated with Lymphatic Malformation 1 is FLT4 (Fms Related Tyrosine Kinase 4), and among its related pathways/superpathways are VEGF Pathway (Qiagen) and RhoGDI Pathway. Affiliated tissues include skin, testis and endothelial, and related phenotypes are hyperkeratosis and varicose veins

NIH Rare Diseases : ⁵³ Milroy disease is a lymphatic disease that causes swelling (lymphedema) in the lower legs and feet. Lymphedema is usually present at birth or develops in infancy. It typically occurs on both sides of the body and can worsen over time. Other symptoms may include accumulation of fluid in the scrotum in males (hydrocele), upslanting toenails, deep creases in the toes, wart-like growths, prominent leg veins, and/or cellulitis. Milroy disease is sometimes caused by changes (mutations) in the FLT4 gene and is inherited in an autosomal dominant manner. In many cases, the cause remains unknown. Treatment may include lymphedema therapy to improve function and alleviate symptoms.

OMIM : ⁵⁷ 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 Gordon et al., 2013 and Balboa-Beltran et al., 2014). (153100)

UniProtKB/Swiss-Prot : ⁷⁴ Lymphatic malformation 1: A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Patients with lymphedema may suffer from recurrent local infections. LMPHM1 is an autosomal dominant form with variable expression and severity. Onset is usually at birth or in early childhood but can occur later. Affected individuals manifest lymphedema, predominantly in the lower limbs, and hypoplasia of lymphatic vessels. Additional features are hemangioma and nail dysplasia or papillomatosis.

GeneReviews: NBK1239

Clinical features from OMIM:

153100

Search NIH Clinical Center for Lymphatic Malformation 1

Search GEO for disease gene expression data for Lymphatic Malformation 1.