GTR Home > Conditions/Phenotypes > Lymphatic malformation 7

Lymphatic malformation 7

Synonyms
Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to

Summary

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. [from OMIM]

Available tests

10 tests are in the database for this condition.

Clinical tests (10 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMAVM2, HFASD, HTK, LMPHM7, MYK1, TYRO11, EPHB4
    Summary: EPH receptor B4

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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