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Hirschsprung disease, susceptibility to, 2; HSCR2

Disease ID:440
Name:Hirschsprung disease, susceptibility to, 2; HSCR2
Associated with:1 target
Hirschsprung disease
Database Links
OMIM: 600155
Orphanet: ORPHA388


ETB receptor
Comments:  Hirschsprung disease is characterized by an absence of enteric ganglia in the distal colon and a failure of innervation in the gastrointestinal tract

Mutations in the receptor gene: a transversion, C to A, at nucleotide 1170 (S390R) results in impairment of cell signalling when expressed in CHO cells, and a transition, T to C, at nucleotide 325 (C109R), results in the receptor not translocating to the plasma membrane. Both may contribute to the disease.

Mutant (W276C) receptor exhibited partial impairment of function.
References:  1-2
Mutations:  ETB receptor is associated with 3 mutation. Click here for details


No ligand related data available for Hirschsprung disease, susceptibility to, 2; HSCR2


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1. Puffenberger EG, Hosoda K, Washington SS, Nakao K, deWit D, Yanagisawa M, Chakravart A. (1994) A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. Cell, 79 (7): 1257-66. [PMID:8001158]

2. Tanaka H, Moroi K, Iwai J, Takahashi H, Ohnuma N, Hori S, Takimoto M, Nishiyama M, Masaki T, Yanagisawa M et al.. (1998) Novel mutations of the endothelin B receptor gene in patients with Hirschsprung's disease and their characterization. J Biol Chem, 273 (18): 11378-83. [PMID:9556633]