Table 2.

Single-gene glomerular diseases. (The leading diagnostic feature is proteinuria).

GLOMERULAR DISEASES	OMIM No.	MOI	Characteristic signs and features	Gene symbol(s), gene product(s)
Congenital SRNS (Finnish type)	#256300	AR	congenital nephrotic syndrome, CKD	NPHS1, nephrin
SRNS type 2	#600995	AR	SRNS, FSGS, CKD	NPHS2, podocin
SRNS type 3	#610725	AR	SRNS (SSNS), DMS, FSGS, CKD	PLCE1, phospholipase C
SRNS type 4	#600995	AR, (AD)	SRNS, FSGS	CD2AP, CD2AP
Pierson syndrome	#609049	AR	SRNS and microcoria	LAMB2, laminin-β2
SRNS, adult-onset	#600995	AD	Adult-onset SRNS, FSGS, CKD	NPHS2, α-actinin-4 (ACTN4)
SRNS, adult-onset	#603965	AD	Adult-onset SRNS, FSGS, CKD	TRPC6, transient receptor potential cation channel C6
Denys-Drash syndrome, Frasier syndrome	#194080	AD	Wilms’ tumour, pseudohermaphroditism, nephrotic syndrome	WT1, WT suppressor gene
Nail-Patella syndrome	#161200	AD	Nail dysplasia, absent patella, SRNS	LMX1B, LIM homeodomain protein
Schimke immuno-osseous dystrophy	#242900	AR	Bone abnormalities, immunodeficiency, SRNS	SMARCAL1, HepA-related protein (HARP)
Mitochondrial disorders with SRNS	#607426	AR	SRNS +/− neurologic impairment/SND	COQ2, PDSS2, MTTL1
Lysosomal disorders with SRNS	#254900	AR	Action myoclonus, SRNS, CKD	SCARB2, lysosomal integral membrane protein (LIMP2)
Glomerulopathy with fibronection deposits	#601894	AD	Proteinuria, dRTA	FN1, fibronectin-1
Alport syndrom	#301050	XD	Nephritis, SND, CKD	COL4A5, α5(IV)-collagen
Alport syndrom with leiomyomatosis	#308940	XD	Alport syndrom with leiomyomatosis, CKD	COL4A6, α6(IV)-collagen
Alport syndrom	#203780	AR	Alport syndrome or benign familial hematuria	COL4A3, α3(IV)-collagen
Alport syndrom	*120131	AR	Nephritis, SND, CKD	COL4A4, α4(IV)-collagen

AD=autosomal dominant, AR=autosomal recessive, CKD=chronic kidney disease, DMS=diffuse mesangial sclerosis, FSGS=focal segmental glomerulosclerosis, MOI=mode of inheritance, SND =sensorineural deafness, SSNS=steroid sensitive nephrotic syndrome, SRNS=steroid resistant nephrotic syndrome, XD=X-linked dominant