Lymphatic Malformation 6 (LMPH3)

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OMIM 58 616843 MeSH 45 D008209 MedGen 43 C4225184 CN235387

SNOMED-CT via HPO 70 103276001 109245003 111266001 11731003 128045006 128053003 128060009 12856003 128936008 15188001 16294009 16331000 197260007 206538000 224958001 234097001 235595009 237836003 253366007 258211005 26614003 267041004 271808008 276509008 30213001 32958008 343087000 385627004 386152007 389026000 391987005 399989005 405752007 40930008 445088006 49563000 5187006 55434001 64217002 698065002 70142008 83035003 86203003 95828007 more EFO 17 EFO_0009153

OMIM : ⁵⁸ Lymphatic malformation-6 is a form of generalized lymphatic dysplasia (GLD), which is characterized by a uniform, widespread lymphedema affecting all segments of the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural effusions, chylothoraces and/or pericardial effusions. In LMPHM6, there is a high incidence of nonimmune hydrops fetalis (NIHF) with either death or complete resolution of the neonatal edema, but childhood onset of lymphedema with or without systemic involvement also occurs. Mild facial edema is often present. Patients have normal intelligence and no seizures (summary by Fotiou et al., 2015). For a discussion of genetic heterogeneity of lymphatic malformation, see 153100. (616843)

MalaCards based summary : Lymphatic Malformation 6, is also known as lymphedema, hereditary, iii. An important gene associated with Lymphatic Malformation 6 is PIEZO1 (Piezo Type Mechanosensitive Ion Channel Component 1). Affiliated tissues include skin and testis, and related phenotypes are splenomegaly and short stature

UniProtKB/Swiss-Prot : ⁷⁶ Lymphedema, hereditary, 3: A severe form of lymphedema, a chronic disabling condition which results in swelling of the extremities due to altered lymphatic flow. Patients with lymphedema suffer from recurrent local infections, and physical impairment. LMPH3 manifests as generalized lymphatic dysplasia, characterized by uniform, widespread lymphedema affecting all segments of the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural effusions, chylothoraces and/or pericardial effusions, and with a high incidence of non-immune hydrops fetalis.

Clinical features from OMIM:

616843

Search Clinical Trials , NIH Clinical Center for Lymphatic Malformation 6

Search GEO for disease gene expression data for Lymphatic Malformation 6.