Table 3.

Syndromic forms of steroid-resistant nephrotic syndrome/focal segmental glomerulosclerosis

Gene	Inheritance	OMIM numbera	Disease
ALG1	AR	608540	Congenital disorder of glycosylation, type Ik
ARHGDIA	AR	615244	Seizures, cortical blindness
CD151	AR	609057	Pretibial epidermolysis bullosa and deafness
COQ2	AR	607426	Coenzyme Q10 deficiency, primary, 1; encephalopathy
COQ6	AR	614650	Coenzyme Q10 deficiency, primary, 1; deafness
CUBN	AR	261100	Megaloblastic anemia-1, Finnish type
DGKE	AR	615008	Atypical hemolytic uremic syndrome
INF2	AD	614455	Charcot-Marie-Tooth disease, dominant intermediate E
ITGA3	AR	614748	Epidermolysis bullosa, interstitial lung disease
ITGB4	AR	226650	Epidermolysis bullosa, junctional, non-Herlitz type
LAMB2	AR	609049	Pierson syndrome
LAGE3	XR	301006	Galloway-Mowat syndrome 2, X-linked
LCAT	AR	245900	Norum disease (classical familial lecithin:cholesterol acyltransferase deficiency)
LMNA	AD	151660	Lipodystrophy, familial partial, type 2
LMX1B	AD	161200	Nail-patella syndrome
MAFB	AD	166300	Multicentric carpotarsal osteolysis
MTTL1	Mt	540000	MELAS syndrome
MYH9	AD	155100	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (Epstein syndrome, Fechtner syndrome)
NUP107	AR	618348	Galloway-Mowat syndrome 7
NUP133	AR	618349	Galloway-Mowat syndrome 8
NXF5	XR		Co-segregating heart block
OSGEP	AR	617729	Galloway-Mowat syndrome 3
PAX2	AD	120330	Papillorenal syndrome
PDSS2	AR	614652	Coenzyme Q10 deficiency, primary, 3; Leigh syndrome
PMM2	AR	212065	Congenital disorder of glycosylation, type Ia
PODXL	AR		Congenital omphalocele
SCARB2	AR	254900	Epilepsy, progressive myoclonic 4, with or without renal failure
SMARCAL1	AR	242900	Schimke immuno-osseous dysplasia
TP53RK	AR	617730	Galloway-Mowat syndrome 4
TPRKB	AR	617731	Galloway-Mowat syndrome 5
WDR4	AR	618347	Galloway-Mowat syndrome 6
WDR73	AR	251300	Galloway-Mowat syndrome 1
WT1	AD	194080, 136680	Denys-Drash syndrome, Frasier syndrome
ZMPSTE24	AR	608612	Mandibuloacral dysplasia with type B lipodystrophy

AD, autosomal dominant; AR, autosomal recessive; MELAS, mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; Mt, mitochondrial; XR, X-linked recessive.

^aPhenotype number.