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, facial dysmorphism, thrombocytopenia, hypertelorism, ptosis, dermatitis, skin ulcers, developmental delay, respiratory infections, recurrent infections, neonatal jaundice, elevated immunoglobulins |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | PEPD |
| Base Change: | C>T, at nucleotide 793 |
| Amino Acid Change: | arg 265 --> term |
| Last updated: | 2022-11-15 |
| 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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