Lymphatic Malformation 9 (LMPHM9)

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UniProtKB/Swiss-Prot: ⁷³ 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. Impaired lymphatic drainage in the fetus can develop into hydrops fetalis, a severe condition characterized by excessive fluid accumulation in more than two fetal extra-vascular compartments and body cavities, placental enlargement and edema, pericardial or pleural effusion, or ascites. LMPHM9 is an autosomal dominant form with variable expressivity and incomplete penetrance, characterized by the onset of lower-extremity lymphedema in the first decades of life.

MalaCards based summary: Lymphatic Malformation 9, is also known as lmphm9. An important gene associated with Lymphatic Malformation 9 is CELSR1 (Cadherin EGF LAG Seven-Pass G-Type Receptor 1). Related phenotypes are predominantly lower limb lymphedema and tortuous lymphatic vessels

OMIM®: ⁵⁷ Lymphatic malformation-9 (LMPHM9) is an autosomal dominant disorder characterized by the onset of lower-extremity lymphedema in the first decades of life. Imaging may show lymph backflow and defects in lymph channel valves. There is variable expressivity and incomplete penetrance; female mutation carriers are more likely to show disease manifestations than male carriers (summary by Erickson et al., 2019). For a discussion of genetic heterogeneity of lymphatic malformation, see 153100. (619319) (Updated 08-Dec-2022)

Clinical features from OMIM®:

Search Clinical Trials, NIH Clinical Center for Lymphatic Malformation 9