Nephrotic Syndrome, Type 9; Nphs9

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Nephrotic syndrome type 9 (NPHS9) is an autosomal recessive chronic kidney disorder characterized by significant proteinuria resulting in hypoalbuminemia and edema. Onset is in the first or second decade of life. The disorder is steroid treatment-resistant and usually progresses to end-stage renal disease requiring transplantation. Renal biopsy shows focal segmental glomerulosclerosis (FSGS) or collapsing FSGS (summary by Ashraf et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 (OMIM ).

Genes related to Nephrotic Syndrome, Type 9; Nphs9

COQ8B

View recommended genes panels

Clinical Features

Phenotypes and symptoms related to Nephrotic Syndrome, Type 9; Nphs9

Edema
Proteinuria
Stage 5 chronic kidney disease
Nephrotic syndrome
Hypoalbuminemia
Glomerulosclerosis
Focal segmental glomerulosclerosis
Steroid-resistant nephrotic syndrome

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Nephrotic Syndrome, Type 9; Nphs9 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Nephrotic Syndrome Region of Interest-Trio. By Claritas Genomics (United States). ACTN4, COQ8B Specificity 50 % Genes 100 %
Nephrotic Syndrome Region of Interest- Proband Only. By Claritas Genomics (United States). ACTN4, COQ8B Specificity 50 % Genes 100 %
Nephrotic syndrome (NGS panel for 11 genes). By CGC Genetics (Portugal). WT1, NPHS2, ACTN4, PLCE1, COQ8B, DGKE, EMP2, LAMB2, ARHGDIA, NPHS1, PTPRO Specificity 10 % Genes 100 %
Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). SGPL1, SMARCAL1, TRPC6, WT1, NPHS2, ANLN, CD2AP, TP53RK, ACTN4, SCARB2, PLCE1, XPO5, OSGEP, NUP205, CRB2, MAGI2, COQ8B, KANK1, COQ6, COL4A3 , (...) View the complete list with 29 more genes Panel complete gene list SGPL1, SMARCAL1, TRPC6, WT1, NPHS2, ANLN, CD2AP, TP53RK, ACTN4, SCARB2, PLCE1, XPO5, OSGEP, NUP205, CRB2, MAGI2, COQ8B, KANK1, COQ6, COL4A3, COL4A4, COL4A5, COL4A6, PDSS2, INF2, TPRKB, COQ2, ARHGAP24, CUBN, TTC21B, WDR73, LAGE3, KANK4, DGKE, NUP93, KANK2, NUP107, EMP2, FAT1, ITGA3, ITGB4, LAMA5, LAMB2, LMX1B, ARHGDIA, MYO1E, NPHS1, PAX2, PTPRO Specificity 3 % Genes 100 %
Coenzyme Q10 Ubiquinone Deficiency Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). APTX, COQ8A, PDSS1, COQ8B, COQ4, COQ6, PDSS2, COQ2, COQ9, ETFA, ETFB, ETFDH Specificity 9 % Genes 100 %
Steroid-Resistant Nephrotic Syndrome and Coenzyme Q10 Deficiency via COQ8B/ADCK4 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). COQ8B Specificity 100 % Genes 100 %
Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection. By PreventionGenetics PreventionGenetics (United States). BCS1L, MRPL12, MRPL3, SCO1, SCO2, SDHB, SDHD, SLC25A1, SLC25A3, SLC25A4, SPG7, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TK2, TSFM, TUFM, UQCRB , (...) View the complete list with 154 more genes Panel complete gene list BCS1L, MRPL12, MRPL3, SCO1, SCO2, SDHB, SDHD, SLC25A1, SLC25A3, SLC25A4, SPG7, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TK2, TSFM, TUFM, UQCRB, UQCRC2, FBXL4, GFM1, MRPS16, ELAC2, MRPS7, MRPS22, MRPS23, GTPBP3, PUS1, LRPPRC, NDUFAF5, APTX, SFXN4, MGME1, SLC19A3, NFU1, LIAS, MRPL44, COQ8A, MFN2, LARS2, NDUFA13, RRM2B, TPK1, SARS2, PDSS1, COA6, RNASEH1, ATPAF2, NDUFAF1, COQ8B, MTO1, COQ4, ISCA2, COQ6, NUBPL, TRIT1, NDUFA11, NDUFB11, APOPT1, AARS2, NDUFAF4, SERAC1, FARS2, RMND1, UQCC2, PDHX, LYRM4, RARS2, ACAD9, VARS2, AGK, COQ7, COX10, COX15, COX6A1, COX6B1, COX7B, COX8A, PDSS2, TRMT5, PNPT1, ETHE1, NDUFA12, YARS2, TACO1, BOLA3, FLAD1, COA3, MARS2, COQ2, COQ9, TRMU, MTPAP, DARS2, CARS2, COA7, CYC1, TTC19, TRMT10C, TMEM70, NSUN3, NARS2, C12orf65, FOXRED1, COX20, IBA57, LYRM7, NDUFAF2, COX14, DGUOK, NDUFAF6, COQ5, DLAT, DLD, FASTKD2, DNA2, EARS2, LIPT1, UQCRQ, MTFMT, GFM2, IARS2, ISCU, NDUFAF3, PARS2, TARS2, TMEM126B, TYMP, AFG3L2, ECHS1, COA5, SDHAF1, UQCC3, ETFA, ETFB, ETFDH, PET100, GARS, GFER, HADHA, HADHB, HARS2, HIBCH, KARS, MPV17, NDUFA1, NDUFA10, NDUFA2, NDUFA4, NDUFA9, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, OPA1, OPA3, ATP5F1A, ATP5F1E, AIFM1, PDHA1, PDHB, POLG, POLG2, PDP1 Specificity 1 % Genes 100 %
Nephrotic syndrome and related disorders Comprehensive panel. By Connective Tissue Gene Tests (United States). SGPL1, SMARCAL1, TRPC6, WT1, NPHS2, ANLN, CD2AP, ACTN4, SCARB2, PLCE1, NUP205, CRB2, MAGI2, COQ8B, COQ6, COL4A3, COL4A4, COL4A5, COL4A6, PDSS2 , (...) View the complete list with 22 more genes Panel complete gene list SGPL1, SMARCAL1, TRPC6, WT1, NPHS2, ANLN, CD2AP, ACTN4, SCARB2, PLCE1, NUP205, CRB2, MAGI2, COQ8B, COQ6, COL4A3, COL4A4, COL4A5, COL4A6, PDSS2, INF2, COQ2, ARHGAP24, CUBN, TTC21B, WDR73, DGKE, NUP93, KANK2, NUP107, EMP2, FN1, ITGA3, ITGB4, LAMB2, LMX1B, ARHGDIA, MEFV, MYO1E, NPHS1, PAX2, PTPRO Specificity 3 % Genes 100 %

You can get up to 14 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, CYTOSOLIC; PCKDC PSEUDOHYPOPARATHYROIDISM TYPE 1A CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6; FECD6 COLOBOMA OF MACULA LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE; LKENP SECKEL SYNDROME 10; SCKL10 ISOLATED ECTOPIA LENTIS