Disease #00399 (NPHS (nephrotic syndrome (NPHS)))

Official abbreviation NPHS
Name nephrotic syndrome (NPHS)
OMIM ID -
Inheritance -
Individuals reported having this disease 108
Phenotype entries for this disease 90
Associated with 13 genes ADCK4, ARHGDIA, DAAM2, DGKE, EMP2, LAMB2, NPHS1, NPHS2, NUP205, NUP93, PLCE1, PTPRO, WT1
Associated tissues -
Disease features -
Remarks -
Date created 2014-06-06 10:05:35 +02:00 (CEST)
Date last edited 2018-07-03 16:45:22 +02:00 (CEST)


Individuals

108 entries on 2 pages. Showing entries 1 - 100.
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00003250 Fam9 PubMed: Boute 2000 - ? ? - (Europe) - - - - NPHS - NPHS2 AXDND1, NPHS2 2 1 Johan den Dunnen
00003251 Fam15 PubMed: Boute 2000 - ? yes - (Europe) - - - - NPHS - NPHS2 NPHS2 2 1 Johan den Dunnen
00016935 - PubMed: Gee 2014 2-generation family, 2 affected sibs, unaffected heterozygous carrier parents ? yes Turkey Turkish - - - steroids, cyclophosphamide NPHS Steroid Sensitive Nephrotic Syndrome (SSNS) EMP2 EMP2 1 2 Marianne Vos (LOVD-team)
00016936 - PubMed: Gee 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents ? no Turkey Turkish - - - - NPHS Steroid Sensitive Nephrotic Syndrome EMP2 EMP2 2 1 Marianne Vos (LOVD-team)
00016937 - PubMed: Gee 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents ? - United States African American - - - - NPHS Steroid Resistant Nephrotic Syndrome. 5y:renal histology exhibited minimal change disease, and electron microscopy showed diffusely effaced FPs of podocytes with microvillous changes EMP2 EMP2 1 1 Marianne Vos (LOVD-team)
00018452 - PubMed: Bullich 2015, Journal: Bullich 2015 - - - Spain - - - - - NPHS congenital nephrotic syndrome, haematuria NPHS1 COL4A3, NPHS1 3 1 Elisabet Ars Criach
00018453 - PubMed: Bullich 2015, Journal: Bullich 2015 - - - Spain - - - - - NPHS - NPHS2 COL4A3, NPHS2 3 1 Elisabet Ars Criach
00018845 - PubMed: Bullich 2015, Journal: Bullich 2015 - - - Spain - - - - - NPHS - LAMB2, NPHS1 LAMB2, NPHS1 3 1 Elisabet Ars Criach
00019409 - PubMed: Bullich 2015, Journal: Bullich 2015 - - - Spain - - - - - NPHS - CUBN, NPHS1 CUBN, NPHS1 3 1 Elisabet Ars Criach
00019411 - PubMed: Bullich 2015, Journal: Bullich 2015 - - - Spain - - - - - NPHS - NPHS1, PLCE1 NPHS1, PLCE1 3 1 Elisabet Ars Criach
00019412 - PubMed: Bullich 2015, Journal: Bullich 2015 - - - Spain - - - - - NPHS - NPHS2, PLCE1 NPHS2, PLCE1 2 1 Elisabet Ars Criach
00019413 - PubMed: Bullich 2015, Journal: Bullich 2015 - - - Spain - - - - - NPHS - NPHS1 NPHS1 1 1 Elisabet Ars Criach
00032334 - PubMed: Ebarasi 2015, Journal: Ebarasi 2015 2 affected sibs, unaffected heterozygous carrier parents - yes Turkey - - - - - NPHS see paper; steroid-resistant nephrotic syndrome (SRNS), renal histology of focal segmental glomerulosclerosis, .. CRB2 CRB2 1 2 Johan den Dunnen
00032335 - PubMed: Ebarasi 2015, Journal: Ebarasi 2015 patient, unaffected heterozygous carrier mother - no United States European - - - - NPHS see paper; steroid-resistant nephrotic syndrome (SRNS), .. CRB2 CRB2 2 1 Johan den Dunnen
00032336 - PubMed: Ebarasi 2015, Journal: Ebarasi 2015 patient, unaffected heterozygous carrier parents - yes Turkey - - - - - NPHS see paper; steroid-resistant nephrotic syndrome (SRNS), .. CRB2 CRB2 1 1 Johan den Dunnen
00032337 - PubMed: Ebarasi 2015, Journal: Ebarasi 2015 patient, unaffected heterozygous carrier parents - yes - European (Western) - - - - NPHS see paper; steroid-resistant nephrotic syndrome (SRNS), .. CRB2 CRB2 1 1 Johan den Dunnen
00038646 - - - M yes Greece - - - - - NPHS - NPHS1, NPHS2, PLCE1, WT1 PLCE1 1 1 Irene (Eirini) Fylaktou
00165177 26878725-FamA2403Pat21 PubMed: Braun 2016 2-generation family, 1 affecteds, unaffected heterozygous carrier parents F - Serbia - - - - - NPHS see paper; ... NUP93 NUP93 2 1 Johan den Dunnen
00165178 26878725-FamAA3256Pat21 PubMed: Braun 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Germany - - - - - NPHS see paper; ... NUP93 NUP93 2 1 Johan den Dunnen
00165179 26878725-FamA1394Pat21 PubMed: Braun 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Germany - - - - - NPHS see paper; ... NUP93 NUP93 2 1 Johan den Dunnen
00165180 26878725-FamA1626Pat21/22 PubMed: Braun 2016 2-generation family, 2 affecteds (F, M), unaffected heterozygous carrier parents F;M no Turkey - - - - - NPHS see paper; ... NUP93 NUP93 1 2 Johan den Dunnen
00165181 26878725-FamA1671Pat21 PubMed: Braun 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Turkey - - - - - NPHS see paper; ... NUP93 NUP93 1 1 Johan den Dunnen
00165182 26878725-FamA2241Pat21 PubMed: Braun 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - - - - NPHS see paper; ... NUP93 NUP93 1 1 Johan den Dunnen
00165183 26878725-FamA1733Pat21/22 PubMed: Braun 2016 2-generation family, 2 affecteds (F, M), unaffected heterozygous carrier parents F;M yes Turkey - - - - - NPHS see paper; ... NUP205 NUP205 1 2 Johan den Dunnen
00165184 26878725-FamF1092Pat21 PubMed: Braun 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - - - - NPHS see paper; ... XPO5 XPO5 1 1 Johan den Dunnen
00165197 NS050 PubMed: Abid 2018, Journal: Abid 2018 non-consanguineous family M no (Pakistan) - >13y05m - yes no response to cyclosporine therapy NPHS steroid resistant nephrotic syndrome without ocular involvement, isolated NS LAMB2 LAMB2 1 1 Aiysha Abid
00165201 NS113 PubMed: Abid 2018, Journal: Abid 2018 patient, no family history M no (Pakistan) - >01y - yes no response to cyclosporine therapy NPHS biopsy focal segmental glomerular sclerosis, isolated steroid resistant nephrotic syndrome without ocular involvement LAMB2 LAMB2 1 1 Aiysha Abid
00225429 30661770-FamAPatII4 PubMed: Dorval 2019, Journal: Dorval 2019 2-generation family, 3 affected brothers, unaffected carrier mother/sister M - France - - - - - NPHS see paper; ..., steroid-resistant nephrotic syndrome, focal and segmental glomerulosclerosis TBC1D8B TBC1D8B 1 3 Johan den Dunnen
00225430 30661770-FamBPatII2 PubMed: Dorval 2019, Journal: Dorval 2019 2-generation family, 1 affected, unaffected non-carrier mother M - France - - - - - NPHS see paper; ..., steroid-resistant nephrotic syndrome, focal and segmental glomerulosclerosis TBC1D8B TBC1D8B 1 1 Johan den Dunnen
00226216 Pat1 PubMed: Aya 2000 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives - - Japan - - - - - NPHS see paper; ... NPHS1 NPHS1 3 1 Johan den Dunnen
00235448 Family A PubMed: Miyado 2019 3-generation family, 3 affected heterozygous carriers (3F) F - Japan - - - - - NPHS see paper; ... GNAS GNAS 1 3 Johan den Dunnen
00235449 Family B PubMed: Miyado 2019 3-generation family, 3 affected heterozygous carriers (2F) F - Japan - - - - - NPHS see paper; ... GNAS GNAS 1 2 Johan den Dunnen
00314938 NS001 PubMed: Abid 2018, Journal: Abid 2018 no family history M - Pakistan - - - - - NPHS biopsy IgM nephropathy; steroid resistant nephrotic syndrome; expired with end stage renal disease LAMB2 LAMB2 2 1 Aiysha Abid
00314939 NS032 PubMed: Abid 2018, Journal: Abid 2018 family history F - Pakistan - - - - - NPHS biopsy focal segmental glomerular sclerosis; steroid resistant nephrotic syndrome; partial remission with Cyclosporine A LAMB2 LAMB2 2 1 Aiysha Abid
00314940 NS301 PubMed: Abid 2018, Journal: Abid 2018 family history M - Pakistan - - - - - NPHS steroid resistant nephrotic syndrome; no response NPHS1 NPHS1 1 1 Aiysha Abid
00314941 NS313 PubMed: Abid 2018, Journal: Abid 2018 no family history M - Pakistan - - - - - NPHS biopsy focal segmental glomerular sclerosis; steroid resistant nephrotic syndrome; NPHS2 NPHS2 1 1 Aiysha Abid
00314942 NS304 PubMed: Abid 2018, Journal: Abid 2018 no family history M - Pakistan - - - - - NPHS biopsy mesengial proliferative glomerulonephritis; steroid resistant nephrotic syndrome; end stage renal disease NPHS2 NPHS2 1 1 Aiysha Abid
00314943 NS228 PubMed: Abid 2018, Journal: Abid 2018 no family history M - Pakistan - - - - - NPHS biopsy mesengial proliferative glomerulonephritis; steroid resistant nephrotic syndrome; no response NPHS2 NPHS2 1 1 Aiysha Abid
00314944 NS245 PubMed: Abid 2018, Journal: Abid 2018 no family history F - Pakistan - - - - - NPHS biopsy focal segmental glomerular sclerosis; steroid resistant nephrotic syndrome; partial remission NPHS2 NPHS2 1 1 Aiysha Abid
00314945 NS003 PubMed: Abid 2018, Journal: Abid 2018 no family history F - Pakistan - - - - - NPHS biopsy minimal change disease; steroid resistant nephrotic syndrome; maintained on ACEI 5y follow up LAMB2 LAMB2 1 1 Aiysha Abid
00314946 NS008 PubMed: Abid 2018, Journal: Abid 2018 no family history M - Pakistan - - - - - NPHS steroid resistant nephrotic syndrome; in remission LAMB2 LAMB2 1 1 Aiysha Abid
00314947 NS094 PubMed: Abid 2018, Journal: Abid 2018 family history F - Pakistan - - - - - NPHS biopsy minimal change disease; steroid resistant nephrotic syndrome; switched to Tac due toCyclosporine A toxicity, partial remission LAMB2 LAMB2 1 1 Aiysha Abid
00314948 NS118 PubMed: Abid 2018, Journal: Abid 2018 no family history M - Pakistan - - - - - NPHS biopsy focal segmental glomerular sclerosis; steroid resistant nephrotic syndrome; in remission after Cyclosporine A LAMB2 LAMB2 1 1 Aiysha Abid
00314949 NS125 PubMed: Abid 2018, Journal: Abid 2018 no family history F - Pakistan - - - - - NPHS biopsy focal segmental glomerular sclerosis; steroid resistant nephrotic syndrome; end stage renal disease LAMB2 LAMB2 1 1 Aiysha Abid
00314950 NS134 PubMed: Abid 2018, Journal: Abid 2018 no family history F - Pakistan - - - - - NPHS biopsy focal segmental glomerular sclerosis; steroid resistant nephrotic syndrome; LAMB2 LAMB2 1 1 Aiysha Abid
00314951 NS166 PubMed: Abid 2018, Journal: Abid 2018 no family history F - Pakistan - - - - - NPHS biopsy focal segmental glomerular sclerosis; steroid resistant nephrotic syndrome; in remission after Cyclosporine A LAMB2 LAMB2 1 1 Aiysha Abid
00314952 NS144 PubMed: Abid 2018, Journal: Abid 2018 no family history F - Pakistan - - - - - NPHS steroid resistant nephrotic syndrome LAMB2 LAMB2 1 1 Aiysha Abid
00314953 NS155 PubMed: Abid 2018, Journal: Abid 2018 no family history - - Pakistan - - - - - NPHS steroid resistant nephrotic syndrome LAMB2 LAMB2 1 1 Aiysha Abid
00314954 NS1401 PubMed: Abid 2018, Journal: Abid 2018 family history M - Pakistan - - - - - NPHS biopsy focal segmental glomerular sclerosis; steroid resistant nephrotic syndrome; end stage renal disease NPHS1 NPHS1 1 1 Aiysha Abid
00314955 NS304 PubMed: Abid 2018, Journal: Abid 2018 no family history M - Pakistan - - - - - NPHS biopsy mesengial proliferative glomerulonephritis; steroid resistant nephrotic syndrome; end stage renal disease NPHS2 NPHS2 1 1 Aiysha Abid
00324103 B3174 PubMed: Schneider 2020, Journal: Schneider 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M no - Arab - - - - NPHS see paper; ..., steroid-resistant nephrotic syndrome DAAM2 DAAM2 2 1 Johan den Dunnen
00324104 B1068 PubMed: Schneider 2020, Journal: Schneider 2020 - M yes - Arab - - - - NPHS see paper; ..., steroid-resistant nephrotic syndrome DAAM2 DAAM2 1 1 Johan den Dunnen
00324105 HN-F629 PubMed: Schneider 2020, Journal: Schneider 2020 - M yes Turkey - - - - - NPHS see paper; ..., nephrotic syndrome DAAM2 DAAM2 1 1 Johan den Dunnen
00324106 HN-F25 PubMed: Schneider 2020, Journal: Schneider 2020 - M yes - Arab - - - - NPHS see paper; ..., steroid-resistant nephrotic syndrome DAAM2 DAAM2 1 1 Johan den Dunnen
00380226 DRAGoN_50 - - M - Viet Nam ne - - - - NPHS - COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6, CUBN, NPHS1, NPHS2, TRPC6, WT1 COL4A5 1 1 Kar-Hui Ng
00380417 DRAGoN_49 - - - - Viet Nam - - - - - NPHS - COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, NPHS1, NPHS2 COL4A5 1 1 Kar-Hui Ng
00380418 DRAGoN_58 - - - - Viet Nam - - - - - NPHS - COL10A1, COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6, NPHS1, NPHS2 COL4A5 1 1 Kar-Hui Ng
00380419 DRAGoN_6 - - - - Viet Nam - - - - - NPHS - COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6, NPHS1, NPHS2 COL4A5 1 1 Kar-Hui Ng
00380420 DRAGoN_62 - - ? - Malaysia - - - - - NPHS - COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6, NPHS1, NPHS2 NPHS1 1 1 Kar-Hui Ng
00380421 DRAGoN_127 - - - - Singapore - - - - - NPHS - COL10A1, COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6, NPHS1, NPHS2 NPHS2 2 1 Kar-Hui Ng
00380422 DRAGoN_5 - - - - Viet Nam - - - - - NPHS - COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6, NPHS1, NPHS2 NPHS2 2 1 Kar-Hui Ng
00431257 CP PubMed: Braun 2017 - F no - American Indian - - - - NPHS 3.5y-proteinuria, no end stage renal disease, alive with normal renal function; primary microcephaly, developmental delay, hypotonia (trunk), spasticity (lower limbs) coordination disorder, intellectual disability; MRI cranial cerebellar atrophy/ hypoplasia; prominent large ears, frontal bossing, broad nasal bridge, high-arched palate and scarce eyebrows, eczema initially; hypomagnesemia; proteinuria (non-nephrotic), medullary nephro- alcinosis - OSGEP 1 1 Johan den Dunnen
00431258 B377 PubMed: Braun 2017 family, 2 affected, brother died 12d M no China - 3m - - - NPHS 1d-proteinuria; 1m-end stage renal disease; 3m-died; primary microcephaly, developmental delay, opisthotonos; MRI cranial broad gyri and hypoplasia of sulci in frontotemporal areas, possible leukoencephalopathy, subdural fluid collection; hypertelorism, deep-set eyes, micrognathia skeletal: arachnodactyly; oligohydramnios, intrauterine growth restriction (2496 g at 40w ga), lactic aciduria, pulmonary edema, aspiration pneumonia; congenital nephrotic syndrome - OSGEP 1 2 Johan den Dunnen
00431259 B58 PubMed: Braun 2017 - M no Taiwan China 3m - - - NPHS 1d-proteinuria; no end stage renal disease; 3m-died; biopsy minimal change nephrotic syndrome, thin basement membrane nephropathy?; primary microcephaly, seizures, developmental delay; MRI cranial abnormal gyration, diffuse cerebral cortical atrophy; narrow forehead, hypertelorism, epicanthal folds, deep-set eyes, large and floppy left ear , micrognathia vision/hearing: bilateral mild hearing impairment skeletal: arachnodactyly; congenital nephrotic syndrome - OSGEP 1 1 Johan den Dunnen
00431260 15M1869 PubMed: Braun 2017 - F no Taiwan China 3m - - - NPHS 6w-proteinuria; no end stage renal disease; 3m-died; biopsy mild glomerular changes, irregular thickness glomerular basement membrane; primary microcephaly, seizures, hypotonia, developmental delay; MRI cranial subdural fluid accumulations in left frontal temporal parietal and right frontal parietal lobes, lack of myelination; narrow forehead, deep-set eyes, floppy ears, micrognathia skeletal: arachnodactyly vision/hearing: bilateral severe hearing and visual-cortical dysfunction; intrauterine growth restriction (2460 g at term); congenital nephrotic syndrome - OSGEP 1 1 Johan den Dunnen
00431261 15M1870 PubMed: Braun 2017 - M no Taiwan China 98d - - - NPHS 1d-proteinuria; no end stage renal disease; 14w-died; primary microcephaly; MRI cranial simplified gyri and sulci, pachygyria in the frontal lobes, reduced density of the frontal white matter; micrognathia skeletal: arachnodactyly; intrauterine growth restriction (2350 g at 36w ga); congenital nephrotic syndrome - OSGEP 1 1 Johan den Dunnen
00431262 15M2114 PubMed: Braun 2017 - M no Taiwan China 6m - - - NPHS 1m-proteinuria; no end stage renal disease; 6m-died; primary microcephaly; MRI cranial brain atrophy, hypodense cerebral white matter, thin corpus callosum; floppy ears, micrognathia skeletal: arachnodactyly; intrauterine growth restriction (840 g at 28w ga); congenital nephrotic syndrome - OSGEP 1 1 Johan den Dunnen
00431263 15M2118 PubMed: Braun 2017 - M no Taiwan China 5m - - - NPHS 1m-proteinuria; no end stage renal disease; 5m-died; biopsy diffuse foot process effacement; primary microcephaly, abnormal eeg recordings with diffuse cortical dysfunction; MRI cranial cerebral and cerebellar atrophy, simplified frontal and temporal gyration, white matter changes; flat nasal bridge, micrognathia skeletal: arachnodactyly; intrauterine growth restriction (2034 g at 39w ga); congenital nephrotic syndrome - OSGEP 1 1 Johan den Dunnen
00431264 15M2121 PubMed: Braun 2017 - F no Taiwan China 5m - - - NPHS 1m-proteinuria; 2m-end stage renal disease; 5m-died; biopsy foot process effacement irregular glomerular basement membrane; primary microcephaly, poor development, hypotonia, poor sucking power, abnormal eeg; MRI cranial abnormal gyration, cortical dysplasia, periventricular white mater changes, hypomyelination, enlarged subdural spaces and ventricles, mild cerebellar atrophy; micrognathia skeletal: arachnodactyly; intrauterine growth restriction (1760 g at 37w ga); congenital nephrotic syndrome - OSGEP 1 1 Johan den Dunnen
00431265 B63 PubMed: Braun 2017 family, 2 affected sibs M no Taiwan China 5m - - - NPHS 1m-proteinuria; 4m-end stage renal disease; 5m-died; primary microcephaly, seizures, developmental delay, hypotonia; MRI cranial frontal pachygyria, cerebral atrophy, poor myelination, subependymal cysts, bilateral ventricular dilation; prominent occiput, prominent glabella, micrognathia vision/hearing: bilateral auditory and visual dysfunction shown by aep/ visual evoked potential skeletal: camptodactyly, arachnodactyly, clenched hands, mild hip contractures; intrauterine growth restriction, low-positioned nipples, cryptorchidism, relatively small penis; congenital nephrotic syndrome - OSGEP 1 2 Johan den Dunnen
00431266 15M2113 PubMed: Braun 2017 sib F no Taiwan China 3m - - - NPHS 2d-proteinuria; no end stage renal disease; 3m-died; primary microcephaly seizures, hypotonia; MRI cranial simplified frontotemporal gyri and sulci, encephalomalacia; small, narrow forehead, prominent glabella, hypertelorism, deep-set eyes, prominent, floppy ears, micrognathia skeletal: arachnodactyly; larygomalacia, swallowing disturbance, aspiration pneumonia; significant lactic aciduria; congenital nephrotic syndrome - OSGEP 1 1 Johan den Dunnen
00431267 B123 PubMed: Braun 2017 family 2 affected (previous child of the family had M yes Egypt - 6y10m - - - NPHS 4.5y-proteinuria; 6y6m-end stage renal disease; 6.8y-died; biopsy focal segmental glomerulosclerosis; primary microcephaly, global developmental delay, profound intellectual disability, spasticity; MRI cranial marked brain atrophy with prominent cortical sulci, ventriculomegaly, periventricular white matter demyelination; dysmorphism vision/hearing: deafness; deceased due to pneumonia and sepsis.; steroid resistant nephrotic syndrome; previous child had microcephaly, seizures, 7m-renal failure, 13m-died of status epilepticus. - TPRKB 1 2 Johan den Dunnen
00431268 DS PubMed: Braun 2017 - M no - Europe 2m15d - - - NPHS 14d-proteinuria; 2.5m-end stage renal disease; 2.5m-died; primary microcephaly, hypotonia, developmental delay, seizures; MRI cranial pachygria, polymicrogyria skeletal: arachnodactyly, camptodactyly; congenital nephrotic syndrome - OSGEP 1 1 Johan den Dunnen
00431269 B1144 PubMed: Braun 2017 - M yes - Europe - - - - NPHS 3.8y-proteinuria; no end stage renal disease; 6y-alive with normal renal function; biopsy focal segmental glomerulosclerosis; primary microcephaly, developmental delay, mild intellectual disability, progressive spasticity (wheelchair bound at 5.5y), coordination disorder, ataxia; MRI cranial pachygyria, periventricular leukomalacia; elongated face, epicanthal folds, slight hypertelorism, deep-set eyes, fleshy ear lobules, prominent chin; steroid resistant nephrotic syndrome (nephrotic range proteinuria, no edema, serum albumin 3.9 g/L) - TPRKB 1 1 Johan den Dunnen
00431270 B65 PubMed: Braun 2017 maternal uncle may be similarly affected M no - Europe - - - - NPHS 4m-proteinuria; 5m-end stage renal disease; alive with end stage renal disease under renal replacement therapy; biopsy 4m-minimal change nephrotic syndrome; primary microcephaly, seizures, spasticity, developmental delay, severe intellectual disability; MRI cranial enlarged subdural/subarachnoid spaces, cerebellar atrophy/hypoplasia, abnormal myelination vision/hearing: nystagmus skeletal: short stature; bilateral vur III, swallowing difficulties (percutaneous endoscopic gastrostomy); infantile nephrotic syndrome - LAGE3 1 1 Johan den Dunnen
00431271 B50 PubMed: Braun 2017 - F yes Iran white 2y6m - - - NPHS 4m-proteinuria; 2y-end stage renal disease; 2y6m-died; primary microcephaly, developmental delay, severe intellectual disability, spasticity, seizures; large, floppy ears skeletal: short stature heart: atrial septal defect; preterm birth; infantile steroid resistant nephrotic syndrome syndrome - OSGEP 1 1 Johan den Dunnen
00431272 B57 PubMed: Braun 2017 - M yes - Iran;white;Iraq;Kurdish 2y1m - - - NPHS 5m-proteinuria; 22m-end stage renal disease; 25m-died; biopsy 1om-focal segmental glomerulosclerosis; primary microcephaly, abnormalities in motor development, speech delay, spasticity vision/hearing: strabism skeletal: short stature; steroid resistant nephrotic syndrome (steroid, immuno-suppression, dialysis) - OSGEP 1 1 Johan den Dunnen
00431273 B60 PubMed: Braun 2017 family, another male affected, younger brother died 8y (variant confirmed) M no Japan - 25y - - - NPHS 2y-proteinuria; 8y-end stage renal disease; 25y-died; biopsy focal segmental glomerulosclerosis; primary microcephaly, developmental delay, intellectual disability, hypotonia, dysmetria; MRI cranial polymicrogyria, poor myelination of the cerebral white matter, diffuse cerebellar atrophy; narrow forehead, high arched palate, micrognathia skeletal: scoliosis, arachnodactyly; nephrotic syndrome - LAGE3 1 2 Johan den Dunnen
00431274 N2194 PubMed: Braun 2017 - F yes Morocco - 3y - - - NPHS 10m-proteinuria; 3y-end stage renal disease; 3y-died; primary microcephaly, developmental delay, hypotonia; MRI cranial bilateral myelination defects vision/hearing: reduced visual evoked potential; nephrotic syndrome - TP53RK 1 1 Johan den Dunnen
00431275 N2984 PubMed: Braun 2017 - F yes Thailand - - - - - NPHS 1y-proteinuria; 2y6m-died; primary microcephaly, developmental delay; MRI cranial cerebral atrophy; large and protruding ears, hypertelorism; nephrotic syndrome - TP53RK 1 1 Johan den Dunnen
00431276 PN553-21 PubMed: Braun 2017 family, 2 affected sibs M yes Turkey - - - - - NPHS initially steroid-sensitive nephrotic syndrome; 13y-proteinuria; no end stage renal disease; alive at present; biopsy focal segmental glomerulosclerosis; diabetes mellitus type II - OSGEP 1 2 Johan den Dunnen
00431277 PN553-22 PubMed: Braun 2017 sib F yes Turkey - - - - - NPHS initially partially steroid-sensitive nephrotic syndrome; 11m--proteinuria; 12y6m-end stage renal disease; 13y-alive; biopsy focal segmental glomerulosclerosis; recurrent headaches, double vision; MRI cranial retro bulbar intra orbital lymphatic malformation; aneurysm of the ascending aorta; nephrotic syndrome - OSGEP 1 1 Johan den Dunnen
00431278 DC PubMed: Braun 2017 - F no Viet Nam;Thailand - 2m15d - - - NPHS 1d-proteinuria; 2m-died; biopsy collapsing focal segmental glomerulosclerosis; primary microcephaly, hypotonia; MRI cranial cerebellar vermis atrophy with prominent interfoliate sulci, thrombosed left transverse sinus, underdeveloped cortical ribbon; hypertelorism, down slanting palpebral fissures heart: atrial septal defect skeletal: camptodactyly (fingers and toes); preterm birth (34w ga); congenital nephrotic syndrome - OSGEP 1 1 Johan den Dunnen
00431279 16M0417 PubMed: Braun 2017 - M no Taiwan China 8m - - - NPHS 3m-proteinuria; 7m-end stage renal disease; 8m-died; biopsy focal segmental glomerulosclerosis; primary microcephaly, developmental delay, hypotonia with intermittent spasticity, epilepsy; MRI cranial mild brain atrophy; small, narrow forehead, micrognathia skeletal: short stature; intrauterine growth restriction (1806 g at 36w ga), severe maternal preeclampsia, feeding difficulty, hypertension, multiple episodes of sepsis, spontaneous bacterial peritonitis, multiple bullous skin defects; infantile nephrotic syndrome - LAGE3 1 1 Johan den Dunnen
00431280 N2705 PubMed: Braun 2017 family, 2 affected M no - Afro- Caribbean - - - - NPHS 13m-proteinuria, no end stage renal disease, 10y6m-alive with normal renal function; primary microcephaly, developmental delay, aggressive behavior; MRI cranial myelination delay, cerebellar atrophy, atrophy of upper spinal cord and medulla; nephrotic syndrome; older brother 22m-steroid resistant nephrotic syndrome, 14m-died from ESKD - OSGEP 2 2 Johan den Dunnen
00431281 A3729 PubMed: Braun 2017 - F no - Asia 2y - - - NPHS 14m-proteinuria; 2y-died; primary microcephaly, seizures, intellectual disability, delay motor milestones, hypotonia; MRI cranial diffuse brain atrophy, atrophic corpus callosum, smaller ventral pons, enlarged subdural/subarachnoid spaces; ptosis, entropion repair skeletal: short stature; infantile nephrotic syndrome - OSGEP 2 1 Johan den Dunnen
00431282 B69 PubMed: Braun 2017 family, 2 affected sibs M no - white - - - - NPHS 3m-proteinuria, 11m-end stage renal disease; primary microcephaly, seizures, myoclonus, developmental delay; MRI cranial lissencephaly; narrow forehead, large, low-set ears, small mouth, micrognathia skeletal: short stature; hiatal hernia - OSGEP 2 2 Johan den Dunnen
00431283 B70 PubMed: Braun 2017 sib M no - white - - - - NPHS 13m-congenital proteinuria; microcephaly, seizures, spasticity, developmental delay; congenital nephrotic syndrome - OSGEP 2 1 Johan den Dunnen
00431284 B80 PubMed: Braun 2017 - M no - white;Hispanic 19m - - - NPHS 14m-proteinuria; 19m-died; biopsy 15m-focal segmental glomerulosclerosis; primary microcephaly, myoclonic seizures, developmental delay, hypotonia, spasticity; MRI cranial enlarged subdural/subarachnoidal spaces, poor myelination, gyral simplification, cerebellar atrophy; large, floppy ears, pinched nose vision/hearing: visual impairment; nephrotic syndrome - OSGEP 2 1 Johan den Dunnen
00431285 B84 PubMed: Braun 2017 family, 2 affected F no Taiwan China 1y9m - - - NPHS 2d-proteinuria; 1y7m-end stage renal disease; 1y9m-died; primary microcephaly, developmental delay, seizures; MRI cranial pachygyria, bilateral ependymal cyst; broad nose bridge, hypertelorism, large ears, micrognathia skeletal: arachnodactyly; intrauterine growth restriction (1954 g 38w ga); congenital nephrotic syndrome; previous child edema, 5m-renal failure, 13m-died - OSGEP 2 2 Johan den Dunnen
00431286 B77-21 PubMed: Braun 2017 family, 2 affected sibs M yes South Africa;India Europe 11m - - - NPHS 2m-end stage renal disease; 11m-died; biopsy 1y-focal segmental glomerulosclerosis; primary microcephaly, seizures, developmental delay, speech delay, cognitive impairment, hypotonia, spasticity; MRI cranial polymicrogyria; plagiocephaly and prominent glabella, large ears skeletal: short stature, tapered fingers; feeding difficulties, multiple hypo and hyper- pigmented macules over the abdomen and limbs. primary microcephaly, seizures, hypotonia; MRI cranial cerebellar hypoplasia, polymicrogyria; dysmorphism; congenital nephrotic syndrome - TP53RK 2 2 Johan den Dunnen
00431287 B77-22 PubMed: Braun 2017 sib F yes South Africa;India - 2m15d - - - NPHS 2m-proteinuria; 2.5m-died; biopsy diffuse mesangial sclerosis; primary microcephaly, seizures, developmental delay, speech delay, cognitive impairment, hypotonia, spasticity; MRI cranial polymicrogyria; plagiocephaly and prominent glabella, large ears skeletal: short stature, tapered fingers; feeding difficulties, multiple hypo and hyper- pigmented macules over the abdomen and limbs. primary microcephaly, seizures, hypotonia; MRI cranial cerebellar hypoplasia, polymicrogyria; dysmorphism.; congenital nephrotic syndrome congenital nephrotic syndrome - TP53RK 2 1 Johan den Dunnen
00431288 B1504 PubMed: Braun 2017 - M no - Hispanic - - - - NPHS 6m-proteinuria; 2y-end stage renal disease; alive with end stage renal disease under renal replacement therapy; biopsy 6m-focal segmental glomerulosclerosis; primary microcephaly, hypotonia, hyperreflexia, developmental delay, speech delay; MRI cranial poor myelination; dysmorphism vision/hearing: esotropia, hyperopia skeletal: camptodactyly heart: patent ductus arteriosus, atrial septal defect; infantile nephrotic syndrome - OSGEP 2 1 Johan den Dunnen
00431289 N3741 PubMed: Braun 2017 family, affected brother/sister (F, M) M no Jordan - 6m - - - NPHS 6m-proteinuria; 6m-end stage renal disease; 6m-died; primary microcephaly, developmental delay; MRI cranial cerebral atrophy, bilateral lissencephaly predominantly in frontotemporal regions, thin corpus callosum; low-set ears, hypertelorism, small down ward slanting eyes; infantile nephrotic syndrome - OSGEP 2 2 Johan den Dunnen
00431290 B83 PubMed: Braun 2017 - F no Netherlands - 1m15d - - - NPHS 1m-proteinuria; 1m-end stage renal disease; 6w-died; biopsy diffuse mesangial sclerosis; primary microcephaly, developmental delay; MRI cranial reduced gyration, cerebellar hypoplasia, abnormal myelination; long convex beaked nose, thin upper lip, down turned corners of the mouth, micrognathia, pointed chin skeletal: arachnodactyly, adducted thumbs, dislocated hips, talipes calcaneovalgus (after oligohydramnios); congenital nephrotic syndrome - OSGEP 2 1 Johan den Dunnen
00431291 KW-21 PubMed: Braun 2017 - F no United States - 2y6m - - - NPHS no proteinuria; 2y6m-died; primary microcephaly, seizures; MRI cranial lissencephaly, hypogenesis of corpus callosum; large, floppy ears, unusual fat distribution skeletal: congenital hip dislocation; poor wound healing, mild direct hyperbilirubinemia, elevated ast/ast and alp; no nephrotic syndrome - OSGEP 2 1 Johan den Dunnen
00431292 KW-22 PubMed: Braun 2017 - M no United States - - - - - NPHS no proteinuria; 7m-alive at present; primary microcephaly; MRI cranial lissencephaly; large, floppy ears, unusual fat distribution; poor wound healing; no nephrotic syndrome - OSGEP 2 1 Johan den Dunnen
00431293 B87 PubMed: Braun 2017 - F no United States - - - - - NPHS 19m-proteinuria; biopsy focal segmental glomerulosclerosis; primary microcephaly, seizures, developmental delay, speech delay, repetitive movements, hand tapping; MRI cranial cerebellar atrophy; nephrotic syndrome - OSGEP 2 1 Johan den Dunnen
00448543 - - - F - Egypt - - - - - NPHS - MYO1E MYO1E 1 1 Mohamed A. Elmonem
00448544 - - - M yes Egypt - - - - - NPHS - PLCE1 PLCE1 1 1 Mohamed A. Elmonem
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