Table 6. Summary of the risk of occurrence of extra-hematological manifestations of MYH9-RD according to seven MYH9 genotypes.
Nephropathy | Deafness | Cataracts | |
---|---|---|---|
SH3/MD interface substitutions | Low risk | Before age 60 years in all patients | Low risk |
R702 substitutions | Before age 40 years in all patients Progression to ESRD in all patients | Before age 40 years in all patients | Low risk |
R1165 substitutions | Low risk | Before age 60 years in all patients | Low risk |
p.D1424H | High risk Progression to ESRD in a minority of patients | Before age 60 years in all patients | Probably higher risk |
p.D1424N | Very low risk | Low risk | Low risk |
p.E1841K | Low risk | Low risk | Low risk |
NHT deletions | Very low risk | Low risk | Very low risk |