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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

Evaluating ravulizumab for the treatment of children and adolescents with paroxysmal nocturnal hemoglobinuria.
Yoo JJ, Chonat S
Expert Rev Hematol 2022 May;15(5):385-392. Epub 2022 May 13 doi: 10.1080/17474086.2022.2073215. PMID: 35502699
Treatment of paroxysmal nocturnal hemoglobinuria in the era of eculizumab.
Röth A, Dührsen U
Eur J Haematol 2011 Dec;87(6):473-9. doi: 10.1111/j.1600-0609.2011.01701.x. PMID: 21883481
Guidelines for the diagnosis and monitoring of paroxysmal nocturnal hemoglobinuria and related disorders by flow cytometry.
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

Recent clinical studies

Diagnosis

A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.
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
Ketogenic diet - A novel treatment for early epileptic encephalopathy due to PIGA deficiency.
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

A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.
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
A novel PIGA mutation in a family with X-linked, early-onset epileptic encephalopathy.
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
The genotypic and phenotypic spectrum of PIGA deficiency.
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

A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.
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
The genotypic and phenotypic spectrum of PIGA deficiency.
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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