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GTR Home > Conditions/Phenotypes > Lymphatic malformation 6

Lymphatic malformation 6

Synonyms
GENERALIZED LYMPHATIC DYSPLASIA OF FOTIOU; Lymphedema, hereditary, III

Summary

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. [from OMIM]

Available tests

15 tests are in the database for this condition.

Clinical tests (15 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DHS, ER, FAM38A, LMPH3, LMPHM6, Mib, PIEZO1
    Summary: piezo type mechanosensitive ion channel component 1 (Er blood group)

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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