Amish, Mennonite, and Hutterite
Genetic Disorder Database

Desmoid disease, hereditary

Disorder
OMIM #: #135290  (Click to access OMIM database)
Disorder: Desmoid disease, hereditary 
Also known as:  
Clinical
Phenotype: adenomatous polyps of the colon, adenocarinoma, desmoid tumors, duodenal adenomas, epidermoid cysts, gastric fundic gland polyps, osteomata 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: APC
Base Change: insertion of Alu 1 sequence at nt337, at nucleotide 1526
Amino Acid Change:
Last updated: 2007-08-13 

References
Halling KC, Lazzaro CR, Honchel R, Bufill JA, Powell SM, Arndt CA, Lindor NM. (1999) Hereditary desmoid disease in a family with a germline Alu I repeat mutation of the APC gene. Hum. Hered. 49:97-102.
PubMed ID: 10077730 

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