Amish, Mennonite, and Hutterite
Genetic Disorder Database

Hirschsprung disease 2

Disorder
OMIM #: #600155  (Click to access OMIM database)
Disorder: Hirschsprung disease 2 
Also known as: HSCR2
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
WAARDENBURG SYNDROME, TYPE 4A 
Clinical
Phenotype: absence of ganglion cells in the distal colon causing functional obstruction, bowel obstruction, hirschsprung aganglionosis, constipation, vomiting 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks: Incomplete penetrance 
Mutations
ReferencesPuffenberger EG, Kompanek AJ, Kauffman ER, Mascari M, Ladda R, Chakravarti A. (1992) Pedigree analysis of a large Mennonite kindred segregating Hirschsprung disease. Am J Med Genet A 51:106.
1   Old Order Mennonite  
Gene: EDNRB
Base Change: G>T, at nucleotide 828
Amino Acid Change: trp 276 --> cys
Last updated: 2017-11-03 

References
Puffenberger EF, Hosoda K, Washington S, Nakao K, deWit D, Yanagisawa M, and Chakravarti A. (1994) A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. Cell 79(7): 1257-1266.
PubMed ID: 8001158 
Puffenberger EG, Kauffman ER, Bolk S, Matise TC, Washington SS, Angrist M, Weissenbach J, Garver KL, Mascari M, Ladda R, et al. (1994) Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22. Hum Mol Genet Aug;3(8):1217-25.
PubMed ID: 7987295 
Puffenberger EG, Kompanek AJ, Kauffman ER, Mascari M, Ladda R, Chakravarti A. (1992) Pedigree analysis of a large Mennonite kindred segregating Hirschsprung disease. Am J Med Genet A 51:106.  

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