Lymphatic Malformation 8 (LMPHM8)

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OMIM 56 618773 OMIM Phenotypic Series 56 PS153100 MeSH 43 D015160

MedGen 41 CN263266 SNOMED-CT via HPO 68 206538000 237364002 258211005 271808008 276507005 276509008 373945007 60046008 86203003 more

UniProtKB/Swiss-Prot : ⁷³ Lymphatic malformation 8: A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Adult 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. LMPHM8 is an autosomal recessive form characterized by onset in utero and fetal death due to non-immune hydrops fetalis.

MalaCards based summary : Lymphatic Malformation 8, is also known as lmphm8. An important gene associated with Lymphatic Malformation 8 is CALCRL (Calcitonin Receptor Like Receptor). Affiliated tissues include placenta, and related phenotypes are polyhydramnios and nonimmune hydrops fetalis

OMIM : ⁵⁶ Lymphatic malformation-8 (LMPHM8) is an autosomal recessive disorder in which affected fetuses die in utero due to nonimmune hydrops fetalis (NIHF). The fetus and placenta are edematous with interstitial accumulation of fluid and abnormally shaped vessels. The disorder results from impaired lymphangiogenesis. Carrier females have reduced fertility and recurrent miscarriages likely due to NIHF (summary by Mackie et al., 2018). For a discussion of genetic heterogeneity of lymphatic malformation, see LMPHM1 (153100). (618773)

Clinical features from OMIM:

618773

Search Clinical Trials , NIH Clinical Center for Lymphatic Malformation 8

Search GEO for disease gene expression data for Lymphatic Malformation 8.