Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome (HLTRS)

Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome, also known as telangiectatic membranoproliferative glomerulonephritis, is related to hereditary lymphedema i and hypotrichosis-lymphedema-telangiectasia syndrome. An important gene associated with Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome is SOX18 (SRY-Box Transcription Factor 18), and among its related pathways/superpathways are Endoderm differentiation and Deactivation of the beta-catenin transactivating complex. Affiliated tissues include skin and testis, and related phenotypes are alopecia and abnormality of the lymphatic system