| Gene . | Protein . | Inheritance . | Syndrome . | Renal phenotype . |
|---|---|---|---|---|
| Non-syndromic forms of FSGS | ||||
| Cell signalling | ||||
| PLCE1 | 1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase epsilon-1 | AR | No | Steroid-resistant nephrotic syndrome |
| KANK2 | KN motif and ankyrin repeat domain-containing protein 2 | AR | No | Early onset, steroid-resistant nephrotic syndrome, haematuria |
| KANK4 | KN motif and ankyrin repeat domains 4 | AD | No | VUS, may contribute to FSGS |
| TRPC6 | Transient receptor potential cation channel, subfamily C, member 6 | AD | No | FSGS |
| Slit diaphragm-associated proteins | ||||
| NPHS1 | Nephrin | AR | No | Congenital nephrotic syndrome or FSGS |
| NPHS2 | Podocin | AR | No | Early-onset FSGS |
| CD2AP | CD2-associated protein | AD/AR | No | Early-onset FSGS |
| MYO1E | Myosin 1E | AR | No | Early-onset FSGS |
| MAGI2 | Membrane-associated guanylate kinase, WW and PDZ domain-containing 2 | AR | No | Steroid-resistant congenital nephrotic syndrome |
| Nuclear pore complex proteins | ||||
| XPO5 | Exportin 5 | AR | No | Childhood-onset steroid nephrotic syndrome |
| NUP85 | Nucleoporin 85 kDa | AR | No | Childhood-onset FSGS |
| NUP93 | Nucleoporin 93 kDa | AR | No | Childhood-onset FSGS |
| NUP205 | Nucleoporin 205 kDa | AR | Childhood-onset FSGS | |
| NUP160 | Nucleoporin 160 kDa | AR | No | Steroid-resistant nephrotic syndrome in the second decade |
| Cell membrane-associated proteins | ||||
| PTPRO | Protein tyrosine phosphatase receptor-type, O | AR | No | Steroid resistant nephrotic syndrome in childhood |
| MP2 | Epithelial membrane protein 2 | AR | No | Childhood-onset steroid-resistant nephrotic syndrome |
| Mitochondrial function | ||||
| COQ8B | Coenzyme Q8B | AR | No | Steroid-resistant nephrotic syndrome |
| Cilia | ||||
| TTC21B | Tetratricopeptide repeat domain-containing protein 21B | AR | No | Nephronophthisis, adolescent-onset FSGS with tubulointerstitial lesions |
| AVIL | Advillin | AR | No | Childhood-onset FSGS |
| Cytoskeleton, cell polarity adhesion | ||||
| INF2 | Inverted foramin 2 | AD | No | FSGS, other, severe histological appearances |
| ACTN4 | Actinin-α-4 | AD | No | Congenital steroid-resistant nephrotic syndrome |
| ARHGAP24 | Rho GTPase activating protein 24 | AD | No | Adolescent-onset FSGS |
| ANLN | Actin binding protein anillin | AD | No | FSGS with variable age of onset |
| CRB2 | Crumbs cell polarity complex component 2 | AR | No | Childhood-onset FSGS, congenital steroid-resistant nephrotic syndrome |
| ARHGDIA | Rho GDP dissociation inhibitor α | AR | No | Congenital or early-onset steroid-resistant nephrotic syndrome |
| FAT1 | Fat atypical cadherin | AR | No | VUS, may contribute to steroid-resistant nephrotic syndrome |
| DNA repair, transcription | ||||
| NXF5 | Nuclear RNA export factor 5 | X-linked | No | Adult-onset nephrotic syndrome |
| Cell vesicles | ||||
| TBC1D8B | TBC1 domain family protein 8 | X-linked | No | Early-onset steroid-resistant nephrotic syndrome |
| Syndromic forms of FSGS | ||||
| Lysosome | ||||
| SCARB2 | Lysosomal integral membrane protein 2 | AR | Action myoclonus-renal failure syndrome (ataxia, myoclonus, collapsing FSGS) | FSGS |
| DNA repair, transcription | ||||
| WT1 | Wilm’s tumour 1 | AD | Denys–Drash syndrome (Wilms’ tumour, male pseudohermaphroditism, FSGS), Frasier syndrome (FSGS, gonadoblastoma, male pseudohermaphroditism isolated congenital or childhood-onset diffuse mesangial sclerosis) | Childhood-onset FSGS |
| PAX2 | Paired box 2 | AD | Renal coloboma syndrome (renal hypoplasia, childhood-onset FSGS, optic nerve colobomas) | Adult-onset FSGS |
| EYA1 | Eyes absent homolog 1 | AD | Branchio-oto-renal syndrome (abnormalities in branchial, ear and renal development) | Adult-onset FSGS |
| LMX1B | LIM homoeobox transcription factor 1β | AD | Nail–Patella syndrome (hypoplastic or absent patella, dysplasia of elbows, short stature dystrophic nails, frequently glaucoma) | FSGS |
| SMARCAL1 | SMARCA-like protein 1 | AR | Schimke immuno-osseous dysplasia (immunodeficiency, skeletal dysplasia, childhood-onset FSGS) | Childhood-onset FSGS |
| LMNA | Lamin A | AD | Familial partial lipodystrophy with adult-onset FSGS, other syndromes | Adult-onset FSGS |
| WDR73 | WD repeat-containing protein 73 | AR | Galloway–Mowat syndrome (microcephaly joint contractures and developmental delay) | Childhood-onset steroid-resistant nephrotic syndrome |
| Cell matrix | ||||
| COL4A3 | α3 Type 4 collagen | AR, AD | ATS (deafness, renal failure, ocular abnormalities) | FSGS, ATS |
| COL4A4 | α4 Type 4 collagen | AR, AD | ATS (deafness, renal failure, ocular abnormalities) | FSGS, ATS |
| COL4A5 | α5 Type 4 collagen | X-linked | ATS (deafness, renal failure, ocular abnormalities) | FSGS, ATS |
| ITGB4 | Integrin-β4 | AR | Epidermolysis bullosa | Steroid-resistant nephrotic syndrome |
| LAMB2 | Laminin-β2 | AR | Pierson syndrome (microcoria, neuromuscular junction defects, early-onset FSGS or diffuse mesangial sclerosis) | Childhood-onset steroid-resistant nephrotic syndrome |
| Cytoskeleton, cell polarity adhesion | ||||
| MYH9 | Myosin heavy chain 9 | AD | Epstein–Fechtner syndrome (FSGS, cataracts, sensorineural deafness macrothrombocytopaenia leucocyte inclusions) | Childhood-onset FSGS |
| Mitochondrial function | ||||
| MT-TL1 | mitochondrial tRNA for leucine 1 | Mitochondrial | mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes (MELAS) | Secondary FSGS |
| MT-TL2 | Mitochondrially encoded tRNA leucine 2 | Mitochondrial | MELAS | Secondary FSGS |
| MT-TY | Mitochondrially encoded tRNA tyrosine | Mitochondrial | Ophthalmoplaegia, dilated cardiomyopathy, FSGS | Secondary FSGS |
| COQ2 | Coenzyme Q2 polyprenyltransferase | AR | Sensorineural deafness, childhood FSGS, coenzyme Q10 deficiency | Childhood-onset FSGS |
| COQ6 | Coenzyme Q6 monooxygenase | AR | Sensorineural deafness, childhood FSGS, coenzyme Q10 deficiency | Childhood-onset FSGS |
| Cell membrane | ||||
| CUBN | Cubilin | AR | Imerslund–Gräsbeck syndrome (childhood-onset nephrotic syndrome, and megaloblastic anaemia, peripheral neuropathy) | Steroid resistant nephrotic syndrome |
| SGPL1 | Sphingosine-1-phosphate lyase-1 | AR | Adrenal insufficiency, ichthyosis, immunodeficiency and neurological defects | Steroid-resistant nephrotic syndrome |
| PODXL | Podocalyxin-like protein | AR | Microcoria, omphalocele, steroid-resistant nephrotic syndrome | Childhood and adult-onset FSGS |
| Nuclear pore complex protein | ||||
| NUP107 | Nucleoporin 107 kDa | AR | Galloway–Mowat syndrome (developmental delay, microcephaly and early onset FSGS) | Childhood-onset FSGS |
| NUP133 | Nucleoporin 133 kDa | AR | Galloway–Mowat syndrome (developmental delay, microcephaly and early onset FSGS) | Childhood-onset FSGS |
| Gene . | Protein . | Inheritance . | Syndrome . | Renal phenotype . |
|---|---|---|---|---|
| Non-syndromic forms of FSGS | ||||
| Cell signalling | ||||
| PLCE1 | 1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase epsilon-1 | AR | No | Steroid-resistant nephrotic syndrome |
| KANK2 | KN motif and ankyrin repeat domain-containing protein 2 | AR | No | Early onset, steroid-resistant nephrotic syndrome, haematuria |
| KANK4 | KN motif and ankyrin repeat domains 4 | AD | No | VUS, may contribute to FSGS |
| TRPC6 | Transient receptor potential cation channel, subfamily C, member 6 | AD | No | FSGS |
| Slit diaphragm-associated proteins | ||||
| NPHS1 | Nephrin | AR | No | Congenital nephrotic syndrome or FSGS |
| NPHS2 | Podocin | AR | No | Early-onset FSGS |
| CD2AP | CD2-associated protein | AD/AR | No | Early-onset FSGS |
| MYO1E | Myosin 1E | AR | No | Early-onset FSGS |
| MAGI2 | Membrane-associated guanylate kinase, WW and PDZ domain-containing 2 | AR | No | Steroid-resistant congenital nephrotic syndrome |
| Nuclear pore complex proteins | ||||
| XPO5 | Exportin 5 | AR | No | Childhood-onset steroid nephrotic syndrome |
| NUP85 | Nucleoporin 85 kDa | AR | No | Childhood-onset FSGS |
| NUP93 | Nucleoporin 93 kDa | AR | No | Childhood-onset FSGS |
| NUP205 | Nucleoporin 205 kDa | AR | Childhood-onset FSGS | |
| NUP160 | Nucleoporin 160 kDa | AR | No | Steroid-resistant nephrotic syndrome in the second decade |
| Cell membrane-associated proteins | ||||
| PTPRO | Protein tyrosine phosphatase receptor-type, O | AR | No | Steroid resistant nephrotic syndrome in childhood |
| MP2 | Epithelial membrane protein 2 | AR | No | Childhood-onset steroid-resistant nephrotic syndrome |
| Mitochondrial function | ||||
| COQ8B | Coenzyme Q8B | AR | No | Steroid-resistant nephrotic syndrome |
| Cilia | ||||
| TTC21B | Tetratricopeptide repeat domain-containing protein 21B | AR | No | Nephronophthisis, adolescent-onset FSGS with tubulointerstitial lesions |
| AVIL | Advillin | AR | No | Childhood-onset FSGS |
| Cytoskeleton, cell polarity adhesion | ||||
| INF2 | Inverted foramin 2 | AD | No | FSGS, other, severe histological appearances |
| ACTN4 | Actinin-α-4 | AD | No | Congenital steroid-resistant nephrotic syndrome |
| ARHGAP24 | Rho GTPase activating protein 24 | AD | No | Adolescent-onset FSGS |
| ANLN | Actin binding protein anillin | AD | No | FSGS with variable age of onset |
| CRB2 | Crumbs cell polarity complex component 2 | AR | No | Childhood-onset FSGS, congenital steroid-resistant nephrotic syndrome |
| ARHGDIA | Rho GDP dissociation inhibitor α | AR | No | Congenital or early-onset steroid-resistant nephrotic syndrome |
| FAT1 | Fat atypical cadherin | AR | No | VUS, may contribute to steroid-resistant nephrotic syndrome |
| DNA repair, transcription | ||||
| NXF5 | Nuclear RNA export factor 5 | X-linked | No | Adult-onset nephrotic syndrome |
| Cell vesicles | ||||
| TBC1D8B | TBC1 domain family protein 8 | X-linked | No | Early-onset steroid-resistant nephrotic syndrome |
| Syndromic forms of FSGS | ||||
| Lysosome | ||||
| SCARB2 | Lysosomal integral membrane protein 2 | AR | Action myoclonus-renal failure syndrome (ataxia, myoclonus, collapsing FSGS) | FSGS |
| DNA repair, transcription | ||||
| WT1 | Wilm’s tumour 1 | AD | Denys–Drash syndrome (Wilms’ tumour, male pseudohermaphroditism, FSGS), Frasier syndrome (FSGS, gonadoblastoma, male pseudohermaphroditism isolated congenital or childhood-onset diffuse mesangial sclerosis) | Childhood-onset FSGS |
| PAX2 | Paired box 2 | AD | Renal coloboma syndrome (renal hypoplasia, childhood-onset FSGS, optic nerve colobomas) | Adult-onset FSGS |
| EYA1 | Eyes absent homolog 1 | AD | Branchio-oto-renal syndrome (abnormalities in branchial, ear and renal development) | Adult-onset FSGS |
| LMX1B | LIM homoeobox transcription factor 1β | AD | Nail–Patella syndrome (hypoplastic or absent patella, dysplasia of elbows, short stature dystrophic nails, frequently glaucoma) | FSGS |
| SMARCAL1 | SMARCA-like protein 1 | AR | Schimke immuno-osseous dysplasia (immunodeficiency, skeletal dysplasia, childhood-onset FSGS) | Childhood-onset FSGS |
| LMNA | Lamin A | AD | Familial partial lipodystrophy with adult-onset FSGS, other syndromes | Adult-onset FSGS |
| WDR73 | WD repeat-containing protein 73 | AR | Galloway–Mowat syndrome (microcephaly joint contractures and developmental delay) | Childhood-onset steroid-resistant nephrotic syndrome |
| Cell matrix | ||||
| COL4A3 | α3 Type 4 collagen | AR, AD | ATS (deafness, renal failure, ocular abnormalities) | FSGS, ATS |
| COL4A4 | α4 Type 4 collagen | AR, AD | ATS (deafness, renal failure, ocular abnormalities) | FSGS, ATS |
| COL4A5 | α5 Type 4 collagen | X-linked | ATS (deafness, renal failure, ocular abnormalities) | FSGS, ATS |
| ITGB4 | Integrin-β4 | AR | Epidermolysis bullosa | Steroid-resistant nephrotic syndrome |
| LAMB2 | Laminin-β2 | AR | Pierson syndrome (microcoria, neuromuscular junction defects, early-onset FSGS or diffuse mesangial sclerosis) | Childhood-onset steroid-resistant nephrotic syndrome |
| Cytoskeleton, cell polarity adhesion | ||||
| MYH9 | Myosin heavy chain 9 | AD | Epstein–Fechtner syndrome (FSGS, cataracts, sensorineural deafness macrothrombocytopaenia leucocyte inclusions) | Childhood-onset FSGS |
| Mitochondrial function | ||||
| MT-TL1 | mitochondrial tRNA for leucine 1 | Mitochondrial | mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes (MELAS) | Secondary FSGS |
| MT-TL2 | Mitochondrially encoded tRNA leucine 2 | Mitochondrial | MELAS | Secondary FSGS |
| MT-TY | Mitochondrially encoded tRNA tyrosine | Mitochondrial | Ophthalmoplaegia, dilated cardiomyopathy, FSGS | Secondary FSGS |
| COQ2 | Coenzyme Q2 polyprenyltransferase | AR | Sensorineural deafness, childhood FSGS, coenzyme Q10 deficiency | Childhood-onset FSGS |
| COQ6 | Coenzyme Q6 monooxygenase | AR | Sensorineural deafness, childhood FSGS, coenzyme Q10 deficiency | Childhood-onset FSGS |
| Cell membrane | ||||
| CUBN | Cubilin | AR | Imerslund–Gräsbeck syndrome (childhood-onset nephrotic syndrome, and megaloblastic anaemia, peripheral neuropathy) | Steroid resistant nephrotic syndrome |
| SGPL1 | Sphingosine-1-phosphate lyase-1 | AR | Adrenal insufficiency, ichthyosis, immunodeficiency and neurological defects | Steroid-resistant nephrotic syndrome |
| PODXL | Podocalyxin-like protein | AR | Microcoria, omphalocele, steroid-resistant nephrotic syndrome | Childhood and adult-onset FSGS |
| Nuclear pore complex protein | ||||
| NUP107 | Nucleoporin 107 kDa | AR | Galloway–Mowat syndrome (developmental delay, microcephaly and early onset FSGS) | Childhood-onset FSGS |
| NUP133 | Nucleoporin 133 kDa | AR | Galloway–Mowat syndrome (developmental delay, microcephaly and early onset FSGS) | Childhood-onset FSGS |
| Gene . | Protein . | Inheritance . | Syndrome . | Renal phenotype . |
|---|---|---|---|---|
| Non-syndromic forms of FSGS | ||||
| Cell signalling | ||||
| PLCE1 | 1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase epsilon-1 | AR | No | Steroid-resistant nephrotic syndrome |
| KANK2 | KN motif and ankyrin repeat domain-containing protein 2 | AR | No | Early onset, steroid-resistant nephrotic syndrome, haematuria |
| KANK4 | KN motif and ankyrin repeat domains 4 | AD | No | VUS, may contribute to FSGS |
| TRPC6 | Transient receptor potential cation channel, subfamily C, member 6 | AD | No | FSGS |
| Slit diaphragm-associated proteins | ||||
| NPHS1 | Nephrin | AR | No | Congenital nephrotic syndrome or FSGS |
| NPHS2 | Podocin | AR | No | Early-onset FSGS |
| CD2AP | CD2-associated protein | AD/AR | No | Early-onset FSGS |
| MYO1E | Myosin 1E | AR | No | Early-onset FSGS |
| MAGI2 | Membrane-associated guanylate kinase, WW and PDZ domain-containing 2 | AR | No | Steroid-resistant congenital nephrotic syndrome |
| Nuclear pore complex proteins | ||||
| XPO5 | Exportin 5 | AR | No | Childhood-onset steroid nephrotic syndrome |
| NUP85 | Nucleoporin 85 kDa | AR | No | Childhood-onset FSGS |
| NUP93 | Nucleoporin 93 kDa | AR | No | Childhood-onset FSGS |
| NUP205 | Nucleoporin 205 kDa | AR | Childhood-onset FSGS | |
| NUP160 | Nucleoporin 160 kDa | AR | No | Steroid-resistant nephrotic syndrome in the second decade |
| Cell membrane-associated proteins | ||||
| PTPRO | Protein tyrosine phosphatase receptor-type, O | AR | No | Steroid resistant nephrotic syndrome in childhood |
| MP2 | Epithelial membrane protein 2 | AR | No | Childhood-onset steroid-resistant nephrotic syndrome |
| Mitochondrial function | ||||
| COQ8B | Coenzyme Q8B | AR | No | Steroid-resistant nephrotic syndrome |
| Cilia | ||||
| TTC21B | Tetratricopeptide repeat domain-containing protein 21B | AR | No | Nephronophthisis, adolescent-onset FSGS with tubulointerstitial lesions |
| AVIL | Advillin | AR | No | Childhood-onset FSGS |
| Cytoskeleton, cell polarity adhesion | ||||
| INF2 | Inverted foramin 2 | AD | No | FSGS, other, severe histological appearances |
| ACTN4 | Actinin-α-4 | AD | No | Congenital steroid-resistant nephrotic syndrome |
| ARHGAP24 | Rho GTPase activating protein 24 | AD | No | Adolescent-onset FSGS |
| ANLN | Actin binding protein anillin | AD | No | FSGS with variable age of onset |
| CRB2 | Crumbs cell polarity complex component 2 | AR | No | Childhood-onset FSGS, congenital steroid-resistant nephrotic syndrome |
| ARHGDIA | Rho GDP dissociation inhibitor α | AR | No | Congenital or early-onset steroid-resistant nephrotic syndrome |
| FAT1 | Fat atypical cadherin | AR | No | VUS, may contribute to steroid-resistant nephrotic syndrome |
| DNA repair, transcription | ||||
| NXF5 | Nuclear RNA export factor 5 | X-linked | No | Adult-onset nephrotic syndrome |
| Cell vesicles | ||||
| TBC1D8B | TBC1 domain family protein 8 | X-linked | No | Early-onset steroid-resistant nephrotic syndrome |
| Syndromic forms of FSGS | ||||
| Lysosome | ||||
| SCARB2 | Lysosomal integral membrane protein 2 | AR | Action myoclonus-renal failure syndrome (ataxia, myoclonus, collapsing FSGS) | FSGS |
| DNA repair, transcription | ||||
| WT1 | Wilm’s tumour 1 | AD | Denys–Drash syndrome (Wilms’ tumour, male pseudohermaphroditism, FSGS), Frasier syndrome (FSGS, gonadoblastoma, male pseudohermaphroditism isolated congenital or childhood-onset diffuse mesangial sclerosis) | Childhood-onset FSGS |
| PAX2 | Paired box 2 | AD | Renal coloboma syndrome (renal hypoplasia, childhood-onset FSGS, optic nerve colobomas) | Adult-onset FSGS |
| EYA1 | Eyes absent homolog 1 | AD | Branchio-oto-renal syndrome (abnormalities in branchial, ear and renal development) | Adult-onset FSGS |
| LMX1B | LIM homoeobox transcription factor 1β | AD | Nail–Patella syndrome (hypoplastic or absent patella, dysplasia of elbows, short stature dystrophic nails, frequently glaucoma) | FSGS |
| SMARCAL1 | SMARCA-like protein 1 | AR | Schimke immuno-osseous dysplasia (immunodeficiency, skeletal dysplasia, childhood-onset FSGS) | Childhood-onset FSGS |
| LMNA | Lamin A | AD | Familial partial lipodystrophy with adult-onset FSGS, other syndromes | Adult-onset FSGS |
| WDR73 | WD repeat-containing protein 73 | AR | Galloway–Mowat syndrome (microcephaly joint contractures and developmental delay) | Childhood-onset steroid-resistant nephrotic syndrome |
| Cell matrix | ||||
| COL4A3 | α3 Type 4 collagen | AR, AD | ATS (deafness, renal failure, ocular abnormalities) | FSGS, ATS |
| COL4A4 | α4 Type 4 collagen | AR, AD | ATS (deafness, renal failure, ocular abnormalities) | FSGS, ATS |
| COL4A5 | α5 Type 4 collagen | X-linked | ATS (deafness, renal failure, ocular abnormalities) | FSGS, ATS |
| ITGB4 | Integrin-β4 | AR | Epidermolysis bullosa | Steroid-resistant nephrotic syndrome |
| LAMB2 | Laminin-β2 | AR | Pierson syndrome (microcoria, neuromuscular junction defects, early-onset FSGS or diffuse mesangial sclerosis) | Childhood-onset steroid-resistant nephrotic syndrome |
| Cytoskeleton, cell polarity adhesion | ||||
| MYH9 | Myosin heavy chain 9 | AD | Epstein–Fechtner syndrome (FSGS, cataracts, sensorineural deafness macrothrombocytopaenia leucocyte inclusions) | Childhood-onset FSGS |
| Mitochondrial function | ||||
| MT-TL1 | mitochondrial tRNA for leucine 1 | Mitochondrial | mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes (MELAS) | Secondary FSGS |
| MT-TL2 | Mitochondrially encoded tRNA leucine 2 | Mitochondrial | MELAS | Secondary FSGS |
| MT-TY | Mitochondrially encoded tRNA tyrosine | Mitochondrial | Ophthalmoplaegia, dilated cardiomyopathy, FSGS | Secondary FSGS |
| COQ2 | Coenzyme Q2 polyprenyltransferase | AR | Sensorineural deafness, childhood FSGS, coenzyme Q10 deficiency | Childhood-onset FSGS |
| COQ6 | Coenzyme Q6 monooxygenase | AR | Sensorineural deafness, childhood FSGS, coenzyme Q10 deficiency | Childhood-onset FSGS |
| Cell membrane | ||||
| CUBN | Cubilin | AR | Imerslund–Gräsbeck syndrome (childhood-onset nephrotic syndrome, and megaloblastic anaemia, peripheral neuropathy) | Steroid resistant nephrotic syndrome |
| SGPL1 | Sphingosine-1-phosphate lyase-1 | AR | Adrenal insufficiency, ichthyosis, immunodeficiency and neurological defects | Steroid-resistant nephrotic syndrome |
| PODXL | Podocalyxin-like protein | AR | Microcoria, omphalocele, steroid-resistant nephrotic syndrome | Childhood and adult-onset FSGS |
| Nuclear pore complex protein | ||||
| NUP107 | Nucleoporin 107 kDa | AR | Galloway–Mowat syndrome (developmental delay, microcephaly and early onset FSGS) | Childhood-onset FSGS |
| NUP133 | Nucleoporin 133 kDa | AR | Galloway–Mowat syndrome (developmental delay, microcephaly and early onset FSGS) | Childhood-onset FSGS |
| Gene . | Protein . | Inheritance . | Syndrome . | Renal phenotype . |
|---|---|---|---|---|
| Non-syndromic forms of FSGS | ||||
| Cell signalling | ||||
| PLCE1 | 1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase epsilon-1 | AR | No | Steroid-resistant nephrotic syndrome |
| KANK2 | KN motif and ankyrin repeat domain-containing protein 2 | AR | No | Early onset, steroid-resistant nephrotic syndrome, haematuria |
| KANK4 | KN motif and ankyrin repeat domains 4 | AD | No | VUS, may contribute to FSGS |
| TRPC6 | Transient receptor potential cation channel, subfamily C, member 6 | AD | No | FSGS |
| Slit diaphragm-associated proteins | ||||
| NPHS1 | Nephrin | AR | No | Congenital nephrotic syndrome or FSGS |
| NPHS2 | Podocin | AR | No | Early-onset FSGS |
| CD2AP | CD2-associated protein | AD/AR | No | Early-onset FSGS |
| MYO1E | Myosin 1E | AR | No | Early-onset FSGS |
| MAGI2 | Membrane-associated guanylate kinase, WW and PDZ domain-containing 2 | AR | No | Steroid-resistant congenital nephrotic syndrome |
| Nuclear pore complex proteins | ||||
| XPO5 | Exportin 5 | AR | No | Childhood-onset steroid nephrotic syndrome |
| NUP85 | Nucleoporin 85 kDa | AR | No | Childhood-onset FSGS |
| NUP93 | Nucleoporin 93 kDa | AR | No | Childhood-onset FSGS |
| NUP205 | Nucleoporin 205 kDa | AR | Childhood-onset FSGS | |
| NUP160 | Nucleoporin 160 kDa | AR | No | Steroid-resistant nephrotic syndrome in the second decade |
| Cell membrane-associated proteins | ||||
| PTPRO | Protein tyrosine phosphatase receptor-type, O | AR | No | Steroid resistant nephrotic syndrome in childhood |
| MP2 | Epithelial membrane protein 2 | AR | No | Childhood-onset steroid-resistant nephrotic syndrome |
| Mitochondrial function | ||||
| COQ8B | Coenzyme Q8B | AR | No | Steroid-resistant nephrotic syndrome |
| Cilia | ||||
| TTC21B | Tetratricopeptide repeat domain-containing protein 21B | AR | No | Nephronophthisis, adolescent-onset FSGS with tubulointerstitial lesions |
| AVIL | Advillin | AR | No | Childhood-onset FSGS |
| Cytoskeleton, cell polarity adhesion | ||||
| INF2 | Inverted foramin 2 | AD | No | FSGS, other, severe histological appearances |
| ACTN4 | Actinin-α-4 | AD | No | Congenital steroid-resistant nephrotic syndrome |
| ARHGAP24 | Rho GTPase activating protein 24 | AD | No | Adolescent-onset FSGS |
| ANLN | Actin binding protein anillin | AD | No | FSGS with variable age of onset |
| CRB2 | Crumbs cell polarity complex component 2 | AR | No | Childhood-onset FSGS, congenital steroid-resistant nephrotic syndrome |
| ARHGDIA | Rho GDP dissociation inhibitor α | AR | No | Congenital or early-onset steroid-resistant nephrotic syndrome |
| FAT1 | Fat atypical cadherin | AR | No | VUS, may contribute to steroid-resistant nephrotic syndrome |
| DNA repair, transcription | ||||
| NXF5 | Nuclear RNA export factor 5 | X-linked | No | Adult-onset nephrotic syndrome |
| Cell vesicles | ||||
| TBC1D8B | TBC1 domain family protein 8 | X-linked | No | Early-onset steroid-resistant nephrotic syndrome |
| Syndromic forms of FSGS | ||||
| Lysosome | ||||
| SCARB2 | Lysosomal integral membrane protein 2 | AR | Action myoclonus-renal failure syndrome (ataxia, myoclonus, collapsing FSGS) | FSGS |
| DNA repair, transcription | ||||
| WT1 | Wilm’s tumour 1 | AD | Denys–Drash syndrome (Wilms’ tumour, male pseudohermaphroditism, FSGS), Frasier syndrome (FSGS, gonadoblastoma, male pseudohermaphroditism isolated congenital or childhood-onset diffuse mesangial sclerosis) | Childhood-onset FSGS |
| PAX2 | Paired box 2 | AD | Renal coloboma syndrome (renal hypoplasia, childhood-onset FSGS, optic nerve colobomas) | Adult-onset FSGS |
| EYA1 | Eyes absent homolog 1 | AD | Branchio-oto-renal syndrome (abnormalities in branchial, ear and renal development) | Adult-onset FSGS |
| LMX1B | LIM homoeobox transcription factor 1β | AD | Nail–Patella syndrome (hypoplastic or absent patella, dysplasia of elbows, short stature dystrophic nails, frequently glaucoma) | FSGS |
| SMARCAL1 | SMARCA-like protein 1 | AR | Schimke immuno-osseous dysplasia (immunodeficiency, skeletal dysplasia, childhood-onset FSGS) | Childhood-onset FSGS |
| LMNA | Lamin A | AD | Familial partial lipodystrophy with adult-onset FSGS, other syndromes | Adult-onset FSGS |
| WDR73 | WD repeat-containing protein 73 | AR | Galloway–Mowat syndrome (microcephaly joint contractures and developmental delay) | Childhood-onset steroid-resistant nephrotic syndrome |
| Cell matrix | ||||
| COL4A3 | α3 Type 4 collagen | AR, AD | ATS (deafness, renal failure, ocular abnormalities) | FSGS, ATS |
| COL4A4 | α4 Type 4 collagen | AR, AD | ATS (deafness, renal failure, ocular abnormalities) | FSGS, ATS |
| COL4A5 | α5 Type 4 collagen | X-linked | ATS (deafness, renal failure, ocular abnormalities) | FSGS, ATS |
| ITGB4 | Integrin-β4 | AR | Epidermolysis bullosa | Steroid-resistant nephrotic syndrome |
| LAMB2 | Laminin-β2 | AR | Pierson syndrome (microcoria, neuromuscular junction defects, early-onset FSGS or diffuse mesangial sclerosis) | Childhood-onset steroid-resistant nephrotic syndrome |
| Cytoskeleton, cell polarity adhesion | ||||
| MYH9 | Myosin heavy chain 9 | AD | Epstein–Fechtner syndrome (FSGS, cataracts, sensorineural deafness macrothrombocytopaenia leucocyte inclusions) | Childhood-onset FSGS |
| Mitochondrial function | ||||
| MT-TL1 | mitochondrial tRNA for leucine 1 | Mitochondrial | mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes (MELAS) | Secondary FSGS |
| MT-TL2 | Mitochondrially encoded tRNA leucine 2 | Mitochondrial | MELAS | Secondary FSGS |
| MT-TY | Mitochondrially encoded tRNA tyrosine | Mitochondrial | Ophthalmoplaegia, dilated cardiomyopathy, FSGS | Secondary FSGS |
| COQ2 | Coenzyme Q2 polyprenyltransferase | AR | Sensorineural deafness, childhood FSGS, coenzyme Q10 deficiency | Childhood-onset FSGS |
| COQ6 | Coenzyme Q6 monooxygenase | AR | Sensorineural deafness, childhood FSGS, coenzyme Q10 deficiency | Childhood-onset FSGS |
| Cell membrane | ||||
| CUBN | Cubilin | AR | Imerslund–Gräsbeck syndrome (childhood-onset nephrotic syndrome, and megaloblastic anaemia, peripheral neuropathy) | Steroid resistant nephrotic syndrome |
| SGPL1 | Sphingosine-1-phosphate lyase-1 | AR | Adrenal insufficiency, ichthyosis, immunodeficiency and neurological defects | Steroid-resistant nephrotic syndrome |
| PODXL | Podocalyxin-like protein | AR | Microcoria, omphalocele, steroid-resistant nephrotic syndrome | Childhood and adult-onset FSGS |
| Nuclear pore complex protein | ||||
| NUP107 | Nucleoporin 107 kDa | AR | Galloway–Mowat syndrome (developmental delay, microcephaly and early onset FSGS) | Childhood-onset FSGS |
| NUP133 | Nucleoporin 133 kDa | AR | Galloway–Mowat syndrome (developmental delay, microcephaly and early onset FSGS) | Childhood-onset FSGS |
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