Table 1.

Syndromic Genetic SRNS: Genes and Clinical Features

Gene(s) 1MOISyndrome / Features in Addition to SRNS
ALG1 ARALG1-CDG: microcephaly, neurologic involvement (seizures, neurologic deterioration, cerebral or cerebellar atrophy), skeletal, cardiac, hepatic, gastrointestinal, endocrine, coagulation abnormalities (See Congenital Disorder of N-Linked Glycosylation.)
ARHGDIA ARSeizures & cortical blindness (OMIM 615244)
AVIL ARMicrocephaly, short stature, retinal dystrophy, cataracts, deafness, & DD (OMIM 618594)
CD151 ARPretibial bullous skin lesions, SNHL, bilateral lacrimal duct stenosis, nail dystrophy, & thalassemia minor (OMIM 609057)
COL4A3 2
COL4A4 2
COL4A5 2		XL
AR
AD
Digenic		Alport syndrome: ocular abnormalities (anterior lenticonus, corneal & retinal lesions), SNHL, leiomyomas (if large deletions include COL4A6) 3
COQ2
COQ6
COQ8B 2 (ADCK4)		ARPrimary coenzyme Q10 deficiency: neurologic involvement (encephalomyopathy, ataxia, seizures), DD, cognitive impairment, SNHL
CRB2 2ARPrenatal-onset ventriculomegaly, seizures, renal corticomedullary cysts, cardiac & congenital defects (OMIM 219730)
DGKE See footnote 4. C3 glomerulopathy
E2F3 ADID (whole-gene deletion) (OMIM 600427)
FAT1 ARNeurologic involvement; dysmorphic features, colobomatous microphthalmia, renal tubular ectasia, hematuria 5
INF2 2ADPeripheral neuropathy (distal muscle atrophy & weakness), SNHL (See CMT Overview.)
ITGA3 AREpidermolysis bullosa, congenital interstitial lung disease (OMIM 614748)
ITGB4 AR Epidermolysis bullosa w/pyloric atresia
LAGE3 XLGalloway-Mowat syndrome 2: facial dysmorphism, microcephaly, CNS involvement (structural brain anomalies, seizures), optic nerve atrophy, DD, cognitive impairment, skeletal abnormalities, hiatus hernia (OMIM 301006)
LAMB2 ARPierson syndrome: ocular malformations (microcoria, cataracts, other lens or retinal abnormalities); neonatal hypotonia, DD, cognitive impairment (OMIM 609049)
LMX1B 2ADNail-patella syndrome: limb & pelvic abnormalities (absent or hypoplastic patella, elbow abnormalities, iliac horns), absent or dystrophic nails & distal digital abnormalities, eye abnormalities including glaucoma
MAFB ADDuane syndrome: a non-progressive limited horizontal eye movement accompanied by globe retraction
MAGI2 AR± neurologic impairment (OMIM 617609)
MT-TL1 MatMELAS: neurologic involvement (encephalomyopathy, seizures, stroke-like episodes), exercise intolerance, SNHL, retinopathy, diabetes mellitus, hypoparathyroidism, lactic acidosis
MYH9 ADMYH9-related disease: hematologic features present from birth consisting of platelet macrocytosis, thrombocytopenia, & aggregates of the MYH9 protein in the cytoplasm of neutrophil granulocytes. Most affected individuals develop ≥1 additional extrahematologic manifestations including SNHL, renal disease, presenile cataracts, &/or ↑ liver enzymes
NUP107 6ARGalloway-Mowat syndrome 7: facial dysmorphism, microcephaly, CNS involvement (structural brain anomalies, seizures), optic nerve atrophy, DD, cognitive impairment, skeletal abnormalities, hiatus hernia (OMIM 618348)
NUP85 6ARID, short stature, microscopic hematuria (OMIM 618176)
NUP205 6, 7ARAortic abnormalities 6, 7
NXF5 XLHeart block disorder 8
OSGEP
TP53RK
TPRKB
WDR73 		ARGalloway-Mowat syndrome 3: Facial dysmorphism, microcephaly, CNS involvement (structural brain anomalies, seizures), optic nerve atrophy, DD, cognitive impairment, skeletal abnormalities, hiatus hernia (OMIM PS251300)
PAX2 ADPAX2 disorder: eye abnormalities (retinal coloboma, optic disc dysplasia), congenital anomalies of the kidney and urinary tract, renal cysts, renal dysplasia/hypoplasia
PDSS2 ARPrimary coenzyme Q10 deficiency: neurologic involvement (encephalomyopathy, ataxia, seizures), DD, cognitive impairment), SNHL
PMM2 ARPMM2-CDG: microcephaly, neurologic involvement (seizures, neurologic deterioration, cerebral or cerebellar atrophy); skeletal, cardiac, hepatic, gastrointestinal, endocrine, coagulation abnormalities
SCARB2 ARAction myoclonus – renal failure syndrome: Neurologic symptoms (tremor, action myoclonus, tonic-clonic seizures, later ataxia & dysarthria), sensorimotor peripheral neuropathy, SNHL, dilated cardiomyopathy
SGPL1 ARSphingosine phosphate lyase insufficiency syndrome: varying combinations of primary adrenal insufficiency (± mineralocorticoid deficiency), testicular insufficiency, ichthyosis, neurologic involvement (DD, seizures, ataxia), immunodeficiency, skeletal abnormalities
SMARCAL1 ARSchimke immunoosseous dysplasia: spondyloepiphyseal dysplasia resulting in short stature; T-cell deficiency
WT1 2ADWT1 disorder: disorders of testicular development (± abnormalities of external genitalia &/or müllerian structures) & Wilms tumor; congenital anomalies of kidney & urinary tract, diaphragmatic hernia

AD = autosomal dominant; AR = autosomal recessive; CDG = congenital disorder of glycosylation; CKD = chronic kidney disease; CMT = Charcot-Marie-Tooth disease; CNS = central nervous system; DD = developmental delay; ID = intellectual disability; Mat = maternal; MELAS = mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes; MOI = mode of inheritance; SNHL = sensorineural hearing loss; SRNS = steroid-resistant nephrotic syndrome; XL = X-linked

1.

Genes are listed alphabetically

2.

Also associated with nonsyndromic SRNS

3.
4.

C3 glomerulopathy is a complex genetic disorder that is rarely inherited in a simple mendelian fashion. Multiple affected persons within a single nuclear family are reported only occasionally, with both autosomal dominant and autosomal recessive inheritance being described.

5.
6.
7.

Preliminary data suggest that NUP205 may also be associated with nonsyndromic genetic SRNS [Author, unpublished data].

8.

From: Genetic Steroid-Resistant Nephrotic Syndrome Overview

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