Amish, Mennonite, and Hutterite
Genetic Disorder Database

Properdin Deficiency

Disorder
OMIM #: #312060  (Click to access OMIM database)
Disorder: Properdin Deficiency 
Also known as: PROPERDIN P FACTOR DEFICIENCY
PFD, PROPERDIN DEFICIENCY, TYPE I 
Clinical
Phenotype: Immune deficiency, increased susceptibility to encapsulated bacteria, impaired complement function, increased susceptibility to neisseria infections  
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Old Order Mennonite  
Gene: CFP
Base Change: T>G, at nucleotide 379
Amino Acid Change: cys 127 --> gly
Last updated: 2017-05-01 

References
Strauss KA, Puffenberger EG. (2009) Genetics, medicine, and the Plain people. Annu Rev Genomics Hum Genet 10:513-36.
PubMed ID: 19630565 

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