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Table 3 Review of the literature[3, 4, 7, 8, 11, 16]-[49]

From: Long-term clinical outcome and phenotypic variability in hyperphosphatemic familial tumoral calcinosis and hyperphosphatemic hyperostosis syndrome caused by a novel GALNT3mutation; case report and review of the literature

Phenotype

Total

Genotype

Sex1

GALNT3

FGF23

KL

Male

Female

N (%)

N (%)

N (%)

N (%)

N (%)

N (%)

Total

56 (100)

42 (75)

13 (23)

1 (2)

30 (54)

25 (46)

Male

29 (54)

22 (52)

8 (64)

0 (0)

  

Female

25 (46)

20 (48)

5 (36)

1 (100)

  

HFTC

30 (54)

22 (52)

8 (62)

0

18 (60)

12 (48)

HHS

6 (11)

6 (14)

0

0

3 (10)

3 (12)

HFTC + HHS

20 (36)

14 (33)

5 (39)

1

9 (30)

10 (40)

Dental involvement

22 (39)

18 (43)

3 (23)

1

13 (43)

8 (32)

Vascular calcification

10 (18)

6 (14)

3 (23)

1

3 (10)

6 (24)

Eye involvement

9 (16)

7 (17)

2 (15)

0

6 (20)

3 (12)

  1. 1Between-sex comparison for GALNT3 and FGF23 mutation only.