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PIGA Deficiency

MedGen UID:
1737580
Concept ID:
C5420267
Disease or Syndrome
Synonyms: Phosphatidylinositol N-Acetylglucosaminyltransferase Subunit A Deficiency; PIGA GPI Anchor Protein Defect; PIGA GPI Anchor Protein Deficiency

Definition

An X-linked recessive inherited disorder caused by loss of function mutations in the PIGA gene. It is characterized by deficient GPI-anchor synthesis. Patients may develop somatic paroxysmal nocturnal hemoglobinuria (PNH) or multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2; early infantile epileptic encephalopathy 20; EIEE20). [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPIGA Deficiency

Professional guidelines

PubMed

Röth A, Dührsen U
Eur J Haematol 2011 Dec;87(6):473-9. doi: 10.1111/j.1600-0609.2011.01701.x. PMID: 21883481
Borowitz MJ, Craig FE, Digiuseppe JA, Illingworth AJ, Rosse W, Sutherland DR, Wittwer CT, Richards SJ; Clinical Cytometry Society
Cytometry B Clin Cytom 2010 Jul;78(4):211-30. doi: 10.1002/cyto.b.20525. PMID: 20533382
Richards SJ, Hill A, Hillmen P
Cytometry B Clin Cytom 2007 Sep;72(5):291-8. doi: 10.1002/cyto.b.20358. PMID: 17549742

Recent clinical studies

Diagnosis

Yang J, Wang Q, Zhuo Q, Tian H, Li W, Luo F, Zhang J, Bi D, Peng J, Zhou D, Xin H
Mol Genet Genomic Med 2018 Sep;6(5):739-748. Epub 2018 Jul 4 doi: 10.1002/mgg3.428. PMID: 29974678Free PMC Article
Joshi C, Kolbe DL, Mansilla MA, Mason S, Smith RJ, Campbell CA
Brain Dev 2016 Oct;38(9):848-51. Epub 2016 Apr 25 doi: 10.1016/j.braindev.2016.04.004. PMID: 27126216

Prognosis

Yang J, Wang Q, Zhuo Q, Tian H, Li W, Luo F, Zhang J, Bi D, Peng J, Zhou D, Xin H
Mol Genet Genomic Med 2018 Sep;6(5):739-748. Epub 2018 Jul 4 doi: 10.1002/mgg3.428. PMID: 29974678Free PMC Article
Kim YO, Yang JH, Park C, Kim SK, Kim MK, Shin MG, Woo YJ
Brain Dev 2016 Sep;38(8):750-4. Epub 2016 Feb 26 doi: 10.1016/j.braindev.2016.02.008. PMID: 26923721
Tarailo-Graovac M, Sinclair G, Stockler-Ipsiroglu S, Van Allen M, Rozmus J, Shyr C, Biancheri R, Oh T, Sayson B, Lafek M, Ross CJ, Robinson WP, Wasserman WW, Rossi A, van Karnebeek CD
Orphanet J Rare Dis 2015 Feb 27;10:23. doi: 10.1186/s13023-015-0243-8. PMID: 25885527Free PMC Article

Clinical prediction guides

Yang J, Wang Q, Zhuo Q, Tian H, Li W, Luo F, Zhang J, Bi D, Peng J, Zhou D, Xin H
Mol Genet Genomic Med 2018 Sep;6(5):739-748. Epub 2018 Jul 4 doi: 10.1002/mgg3.428. PMID: 29974678Free PMC Article
Tarailo-Graovac M, Sinclair G, Stockler-Ipsiroglu S, Van Allen M, Rozmus J, Shyr C, Biancheri R, Oh T, Sayson B, Lafek M, Ross CJ, Robinson WP, Wasserman WW, Rossi A, van Karnebeek CD
Orphanet J Rare Dis 2015 Feb 27;10:23. doi: 10.1186/s13023-015-0243-8. PMID: 25885527Free PMC Article

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