Lymphatic Malformation 7 (LMPHM7)

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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. LMPHM7 is an autosomal dominant form with variable expressivity. Some individuals present with severe non-immune hydrops fetalis, which may cause perinatal demise or fully resolve after the neonatal period. Others present with no edema and have milder clinical features, such as atrial septal defect or varicose veins as adults.

MalaCards based summary: Lymphatic Malformation 7, also known as central conduction lymphatic anomaly, is related to lymphatic malformation 12 and autism spectrum disorder, and has symptoms including edema and peau d'orange. An important gene associated with Lymphatic Malformation 7 is EPHB4 (EPH Receptor B4). The drug Anti-Arrhythmia Agents has been mentioned in the context of this disorder. Affiliated tissues include lung, respiratory system-lung and respiratory system, and related phenotypes are anemia and atrial septal defect

OMIM®: ⁵⁷ LMPHM7 is an autosomal dominant disorder with variable expressivity. Some patients may develop severe nonimmune lymphatic-related hydrops fetalis (LRHF) in utero, resulting in early death, whereas others may have milder manifestations, such as atrial septal defect (ASD) or varicose veins as adults. The hydrops and/or swelling improves spontaneously in those who survive the neonatal period (summary by Martin-Almedina et al., 2016). For a discussion of genetic heterogeneity of lymphatic malformation, see 153100. (617300) (Updated 08-Dec-2022)

Clinical features from OMIM®:

Search NIH Clinical Center for Lymphatic Malformation 7