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Myeloperoxidase deficiency(MPOD)

MedGen UID:
96015
Concept ID:
C0398595
Disease or Syndrome
Synonyms: MPO deficiency; MPOD; Myeloperoxidase deficiency syndrome
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). [HPO:curators]
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Myeloperoxidase deficiency syndrome (129644003); Myeloperoxidase deficiency (234433009); MPO - Myeloperoxidase deficiency (234433009)
 
Gene (location): MPO (17q22)
OMIM®: 254600
Orphanet: ORPHA2587

Clinical features

Abnormality of blood and blood-forming tissues
MedGen UID:
163092
Concept ID:
C0850715
Finding
An abnormality of the hematopoietic system.
Abnormality of the immune system
MedGen UID:
867388
Concept ID:
C4021753
Pathologic Function
An abnormality of the immune system.
Abnormality of metabolism/homeostasis
MedGen UID:
867398
Concept ID:
C4021768
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMyeloperoxidase deficiency
Follow this link to review classifications for Myeloperoxidase deficiency in Orphanet.

Recent clinical studies

Etiology

Theocharides AP, Lundberg P, Lakkaraju AK, Lysenko V, Myburgh R, Aguzzi A, Skoda RC, Manz MG
Blood 2016 Jun 23;127(25):3253-9. Epub 2016 Mar 24 doi: 10.1182/blood-2016-02-696310. PMID: 27013444
Wang K, Lin B, Lin J, Lan X
Gene 2013 Feb 15;515(1):205-7. Epub 2012 Dec 8 doi: 10.1016/j.gene.2012.11.042. PMID: 23228855
Rudolph TK, Wipper S, Reiter B, Rudolph V, Coym A, Detter C, Lau D, Klinke A, Friedrichs K, Rau T, Pekarova M, Russ D, Knöll K, Kolk M, Schroeder B, Wegscheider K, Andresen H, Schwedhelm E, Boeger R, Ehmke H, Baldus S
Eur Heart J 2012 Jul;33(13):1625-34. Epub 2011 Jun 30 doi: 10.1093/eurheartj/ehr193. PMID: 21724624Free PMC Article
Kutter D, Devaquet P, Vanderstocken G, Paulus JM, Marchal V, Gothot A
Acta Haematol 2000;104(1):10-5. doi: 10.1159/000041062. PMID: 11111115
Becker R, Pflüger KH
Ann Hematol 1994 Oct;69(4):199-203. PMID: 7948307

Diagnosis

Domingues-Ferreira M, Levy A, Barros NC, Bertolini DL, Vasconcelos DM
Rev Soc Bras Med Trop 2017 Jul-Aug;50(4):568-570. doi: 10.1590/0037-8682-0462-2016. PMID: 28954085
Milligan KL, Mann D, Rump A, Anderson VL, Hsu AP, Kuhns DB, Zerbe CS, Holland SM
J Pediatr 2016 Sep;176:204-6. Epub 2016 Jun 11 doi: 10.1016/j.jpeds.2016.05.047. PMID: 27301573
Nauseef WM
Methods Mol Biol 2014;1124:537-46. doi: 10.1007/978-1-62703-845-4_32. PMID: 24504973
Nauseef WM
Methods Mol Biol 2007;412:525-30. doi: 10.1007/978-1-59745-467-4_32. PMID: 18453132
Kalinski T, Jentsch-Ullrich K, Fill S, König B, Costa SD, Roessner A
APMIS 2007 Jul;115(7):875-80. doi: 10.1111/j.1600-0463.2007.apm_600.x. PMID: 17614858

Therapy

Antachopoulos C
Clin Microbiol Infect 2010 Sep;16(9):1335-42. doi: 10.1111/j.1469-0691.2010.03289.x. PMID: 20840542
Kutter D, Devaquet P, Vanderstocken G, Paulus JM, Marchal V, Gothot A
Acta Haematol 2000;104(1):10-5. doi: 10.1159/000041062. PMID: 11111115
Edgerton M
J Prosthet Dent 1999 Sep;82(3):263-5. PMID: 10479248
Ludviksson BR, Thorarensen O, Gudnason T, Halldorsson S
Pediatr Infect Dis J 1993 Feb;12(2):162-4. PMID: 8381226
Cheong SK
Singapore Med J 1987 Dec;28(6):577-8. PMID: 2831627

Prognosis

Rośniak-Bąk K, Jeleń A, Bąk M
Ann Clin Lab Sci 2017 Aug;47(4):422-431. PMID: 28801368
Kalinski T, Jentsch-Ullrich K, Fill S, König B, Costa SD, Roessner A
APMIS 2007 Jul;115(7):875-80. doi: 10.1111/j.1600-0463.2007.apm_600.x. PMID: 17614858
Caenazzo A, Piva E, Sartori D, Stefani PM
Haematologica 1997 Jul-Aug;82(4):465-7. PMID: 9299865
Dahlgren C, Stendahl O
Infect Immun 1983 Feb;39(2):736-41. PMID: 6299947Free PMC Article
Kitahara M, Kushner JP
Cancer 1979 Dec;44(6):2244-8. PMID: 228840

Clinical prediction guides

Theocharides AP, Lundberg P, Lakkaraju AK, Lysenko V, Myburgh R, Aguzzi A, Skoda RC, Manz MG
Blood 2016 Jun 23;127(25):3253-9. Epub 2016 Mar 24 doi: 10.1182/blood-2016-02-696310. PMID: 27013444
Nauseef WM
Methods Mol Biol 2014;1124:537-46. doi: 10.1007/978-1-62703-845-4_32. PMID: 24504973
Rudolph TK, Wipper S, Reiter B, Rudolph V, Coym A, Detter C, Lau D, Klinke A, Friedrichs K, Rau T, Pekarova M, Russ D, Knöll K, Kolk M, Schroeder B, Wegscheider K, Andresen H, Schwedhelm E, Boeger R, Ehmke H, Baldus S
Eur Heart J 2012 Jul;33(13):1625-34. Epub 2011 Jun 30 doi: 10.1093/eurheartj/ehr193. PMID: 21724624Free PMC Article
Nauseef WM
Methods Mol Biol 2007;412:525-30. doi: 10.1007/978-1-59745-467-4_32. PMID: 18453132
Marchetti C, Patriarca P, Solero GP, Baralle FE, Romano M
Jpn J Infect Dis 2004 Oct;57(5):S10-2. PMID: 15507752

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