Table 1.

Inherited diseases caused by mutations of genes coding for proteins localized both in glomeruli and in tubule BMs

Disease	Mutation (inheritance)	Spectrum of kidney disease	Extra-renal disease
FS	FRAS1 FREM2 (autosomal recessive)	Uni- or bilateral kidney agenesis, cystic dysplastic kidneys and (in rare adult survivors) proteinuria and haematuria	Cryptophthalmos, cutaneous syndactyly, ambiguous genitalia, larynx atresia and anal atresia/stenosis
X-linked Kallmann syndrome	KAL-1 (X-linked recessive)	Uni- or bilateral kidney agenesis, cystic dysplastic kidneys and proteinuria in adults with solitary functioning kidneys	Anosmia and hypogonadotrophic hypogonadism
HANAC (hereditary angiopathy, nephropathy, aneurysms and cramps) syndrome	COL4A1 (autosomal dominant)	Haematuria and renal cortical and medullary cysts	Myopathies with cramps and intracranial aneurysms