Table 2 Comparison of phenotypic data and biomarkers in different types of MCAHS
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Joshi et al. 2016 [46] | Nakagawa et al. 2016 [50] | 3 unpublished cases | |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9 unpublished cases |