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Table 2 Comparison of phenotypic data and biomarkers in different types of MCAHS

From: Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis

GPIBDs: affected gene (individuals) MCAHS2 PIGA (n = 26) MCAHS1 PIGN (n = 20, including three fetuses) MCAHS3 PIGT (n = 14)
Hyperphosphatasia +/− +/− +
Seizures with early onset + + +
Early death +/− +/−
Profound ID + + +
Neonatal muscular hypotonia +/− +/− +
Macrocephaly or macrosomia +/− +/− +/−
Variable brain anomalies +/− + +
Hyperreflexia/contractures +/− +/− ND
Variable facial anomalies +/− +/− +/−
Renal/vesicoureteral anomalies +/− +/− +/−
Gastrointestinal anomalies +/− +/− ND
Cardiovascular abnormalities ND +/− ND
Cleft palate + +/−
Diaphragmatic defect +/−
Short distal phalanges +/−
Elevated alkaline phosphatase (AP) +/− (5/23 elevated AP) Decreased AP
Abnormal flow cytometry results +/ND +/ND +/ND
Published cases Johnston et al. 2012 [10] Maydan et al. 2011 [12] Kvarnung 2013 [11]
van der Crabben et al. 2014 [15] Brady et al. 2014 [48] Nakashima 2014 [54]
Swoboda et al. 2014 [43] Ohba et al. 2014 [47] Lam 2015 [55]
Kato et al. 2014 [14] Couser et al. 2015 [49] Skauli 2015 [56]
Belet et al. 2014 [42] Fleming et al. 2015 [52] Kohashi 2017 [57]
Tarailo-Graovac et al. 2015 [44] Khayat et al. 2015 [53] Pagnamenta 2017 [40]
Joshi et al. 2016 [46] Nakagawa et al. 2016 [50] 3 unpublished cases
Fauth et al. 2016 [13] Jezela-Stanek et al. 2016 [18]
Kim et al. 2016 [45] McInerney-Leo et al. 2016 [51]
9 unpublished cases
  1. ND not documented