EDNRB, endothelin receptor type B, 1910

N. diseases: 215; N. variants: 15
Disease: Waardenburg Syndrome ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.530 GeneticVariation disease BEFREE Interestingly, homozygous (and very rare heterozygous) EDNRB mutations are already described in type IV WS (i.e., in association with Hirschsprung disease [HD]) and heterozygous mutations in isolated HD. 28236341 2017
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.530 Biomarker disease BEFREE SOX10 transcription factor and endothelin receptor type B (EDNRB) are responsible for WS type 4 (WS4), which also exhibits megacolon, while microphthalmia-associated transcription factor (MITF) is responsible for WS2, which is not associated with megacolon. 16921166 2006
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.530 Biomarker disease BEFREE Four types of WS have been classified to date; in WS type IV (WS4), patients additionally have colonic aganglionosis (Hirschsprung disease, HSCR). 10528251 1999