Gene |
Protein |
Inheritance |
Onset |
Comments |
α-5 chain |
α-5 chain |
X-linked |
Early childhood |
Alport syndrome - ESRD at 2-4 decade, Deafness |
Heterozygous α-3 or α-4 mutation |
α-3 or α-4 chain |
AD |
Early childhood |
Thine basement membrane disease -Familial hematuria |
Homozygous α-3 or α-4 mutation |
α-3 or α-4 |
AR |
Early childhood |
Alport syndrome - ESRD at adolescence, deafness |
LAMB2 |
Laminin 2 |
AR |
Infancy |
Pierson syndrome - Eye disease, MR |
LMX1B |
LMX1B |
AD |
Variable |
Nail-Patella syndrome - Dysplastic nails and patellae, variable degree of renal involvement |
ITGA3 |
Integrin α3 subunit |
AR |
Infancy |
Kidney disease, lung disease, epidermolysis bullosa |