Amish, Mennonite, and Hutterite
Genetic Disorder Database

Prolidase deficiency

Disorder
OMIM #: #170100  (Click to access OMIM database)
Disorder: Prolidase deficiency 
Also known as: PEPTIDASE D
PEPD, PROLIDASE, IMIDODIPEPTIDASE, PROLIDASE DEFICIENCY, INCLUDED 
Clinical
Phenotype: hepatomegaly, splenomegaly, thrombocytopenia, hypertelorism, ptosis, dermatitis, skin ulcers, developmental delay/mental retardation, frequent infections, neonatal jaundice  
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: PEPD
Base Change: C>T, at nucleotide 793
Amino Acid Change: arg 265 --> term
Last updated: 2018-09-19 

References
Haywood, MT. (2011) Prolidase Deficiency: A child with persistent lower extremity ulcerations. Foot Ankle Int doi: 10.3827/faoj.2011.0404.0004.  
Kelly JJ, Freeman AF, Wang H, Cowen EW, Kong HH. (2010) An Amish boy with recurrent ulcerations of the lower extremities, telangiectases of the hands, and chronic lung disease. J Am Acad Dermatol Jun;62(6):1031-4.
PubMed ID: 20466176 
Wang H, Kurien BT, Lundgren D, Patel NC, Kaufman KM, Miller DL, Porter AC, D'Souza A, Nye L, Tumbush J, Hupertz V, Kerr DS, Kurono S, Matsumoto H, and Scofield RH. (2006) A nonsense mutation of PEPD in four Amish children with prolidase deficiency. Am J Med Genet A 140(6): 580-585.
PubMed ID: 16470701 

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