Amish, Mennonite, and Hutterite
Genetic Disorder Database

Bloom Syndrome

Disorder
OMIM #: #210900  (Click to access OMIM database)
Disorder: Bloom Syndrome 
Also known as:  
Clinical
Phenotype: growth deficiency, sun-sensitive, hypopigmented skin, hyperpigmented skin, other malignancy, chromosomal instability, cutaneous telangiectasia 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1     
Gene: BLM
Base Change:
Amino Acid Change:
Last updated: 2018-10-16 

References
Weksberg R, Smith C, Anson-Cartwright L, Maloney K. (1988) Bloom syndrome: a single complementation group defines patients of diverse ethnic origin. Am. J. Hum. Genet. 42:816-824.
PubMed ID: 3163468 
Willis AE, Weksberg R, Tomlinson S, and Lindahl T. (1987) Structural alterations of DNA ligase I in Bloom syndrome. Proc Natl Acad Sci U S A 84(22): 8016-8020.
PubMed ID: 3479778 

Back