Nephronophthisis 20; Nphp20

Table of contents:

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

Description

Nephronophthisis-20 is an autosomal recessive tubulointerstitial nephritis characterized by progressive renal fibrosis resulting in end-stage renal failure. The age at onset is relatively late compared to other forms of NPHP, and patients develop end-stage renal disease in the second or third decades. Unlike most other forms of NPHP, NPHP20 does not have features of a ciliopathy and patients do not appear to have extrarenal manifestations (summary by Macia et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of nephronophthisis, see NPHP1 (OMIM ).

Genes related to Nephronophthisis 20; Nphp20

MAPKBP1

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Clinical Features

Top most frequent phenotypes and symptoms related to Nephronophthisis 20; Nphp20

Short stature
Scoliosis
Abnormal facial shape
Renal insufficiency
Rod-cone dystrophy
Polydactyly
Stage 5 chronic kidney disease
Renal cyst
Situs inversus totalis
Nephritis

And another 3 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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.

Nephronophthisis 20; Nphp20 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hereditary Cystic Kidney Diseases Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). SDCCAG8, HNF1B, TSC1, TSC2, UMOD, VHL, NEK8, DNAJB11, ZNF423, DICER1, INVS, CEP83, DCDC2, SEC61A1, WDR19, CRB2, NPHP4, COL4A1, TTC21B, OFD1 , (...) View the complete list with 21 more genes Panel complete gene list SDCCAG8, HNF1B, TSC1, TSC2, UMOD, VHL, NEK8, DNAJB11, ZNF423, DICER1, INVS, CEP83, DCDC2, SEC61A1, WDR19, CRB2, NPHP4, COL4A1, TTC21B, OFD1, DZIP1L, ANKS6, TMEM67, IQCB1, CEP290, RPGRIP1L, CEP164, GLIS2, MAPKBP1, IFT172, GANAB, JAG1, LRP5, MUC1, NOTCH2, NPHP1, NPHP3, PAX2, PKD1, PKD2, PKHD1 Specificity 3 % Genes 100 %
Nephronophthisis and related disorders NGS panel. By Connective Tissue Gene Tests (United States). SDCCAG8, CEP41, NEK8, ZNF423, TRAF3IP1, INVS, CEP83, DCDC2, WDR19, NPHP4, AHI1, TMEM216, TTC21B, OFD1, ANKS6, TMEM138, XPNPEP3, TMEM67, IQCB1, CEP290 , (...) View the complete list with 9 more genes Panel complete gene list SDCCAG8, CEP41, NEK8, ZNF423, TRAF3IP1, INVS, CEP83, DCDC2, WDR19, NPHP4, AHI1, TMEM216, TTC21B, OFD1, ANKS6, TMEM138, XPNPEP3, TMEM67, IQCB1, CEP290, RPGRIP1L, FAN1, CEP164, CC2D2A, GLIS2, MAPKBP1, NPHP1, NPHP3, PKHD1 Specificity 4 % Genes 100 %
Nephronophthisis and related disorders Comprehensive panel. By Connective Tissue Gene Tests (United States). SDCCAG8, CEP41, NEK8, ZNF423, TRAF3IP1, INVS, CEP83, DCDC2, WDR19, NPHP4, AHI1, TMEM216, TTC21B, OFD1, ANKS6, TMEM138, XPNPEP3, TMEM67, IQCB1, CEP290 , (...) View the complete list with 9 more genes Panel complete gene list SDCCAG8, CEP41, NEK8, ZNF423, TRAF3IP1, INVS, CEP83, DCDC2, WDR19, NPHP4, AHI1, TMEM216, TTC21B, OFD1, ANKS6, TMEM138, XPNPEP3, TMEM67, IQCB1, CEP290, RPGRIP1L, FAN1, CEP164, CC2D2A, GLIS2, MAPKBP1, NPHP1, NPHP3, PKHD1 Specificity 4 % Genes 100 %
Nephronophthisis and related disorders Deletion / Duplication panel. By Connective Tissue Gene Tests (United States). SDCCAG8, CEP41, NEK8, ZNF423, TRAF3IP1, INVS, CEP83, DCDC2, WDR19, NPHP4, AHI1, TMEM216, TTC21B, OFD1, ANKS6, TMEM138, XPNPEP3, TMEM67, IQCB1, CEP290 , (...) View the complete list with 9 more genes Panel complete gene list SDCCAG8, CEP41, NEK8, ZNF423, TRAF3IP1, INVS, CEP83, DCDC2, WDR19, NPHP4, AHI1, TMEM216, TTC21B, OFD1, ANKS6, TMEM138, XPNPEP3, TMEM67, IQCB1, CEP290, RPGRIP1L, FAN1, CEP164, CC2D2A, GLIS2, MAPKBP1, NPHP1, NPHP3, PKHD1 Specificity 4 % Genes 100 %
Hereditary kidney disorders - different panels. By Institute of Human Genetics Uniklinik RWTH Aachen (Germany). BCS1L, ROBO2, CNNM2, CFB, SALL1, ATXN10, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SDHA, SDHB, SDHC, SDHD, BMP4, BMP7, SGPL1, SIX1, SIX2, SIX5 , (...) View the complete list with 386 more genes Panel complete gene list BCS1L, ROBO2, CNNM2, CFB, SALL1, ATXN10, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SDHA, SDHB, SDHC, SDHD, BMP4, BMP7, SGPL1, SIX1, SIX2, SIX5, SLC12A1, SLC12A3, SLC22A5, SLC25A13, SLC26A1, SLC2A2, SLC34A1, SLC3A1, SLC4A4, SLC5A2, SLC7A7, SLC7A9, SLC9A3R1, SMARCAL1, SOX18, STX16, SUCLA2, SUCLG1, TALDO1, TBC1D1, TBX18, HNF1A, HNF1B, THBD, TNXB, TRPC6, TSC1, TSC2, CEP41, UMOD, UPK3A, UROD, VDR, VHL, VPS33B, WNT4, WT1, XDH, IKZF1, C3, ARL6, NEK8, NPHS2, SLC2A9, IFT122, ADAMTS13, CA2, CACNA1D, CACNA1H, ANLN, CD2AP, TMEM237, WNK1, WNK4, CASR, CBS, IFT52, SALL4, TRAP1, CD19, MAGED2, TRIM32, BSND, ACTN4, SCARB2, ZNF423, CDC73, CFHR4, CFHR3, CD81, DICER1, PLCE1, RRM2B, LRBA, CDC5L, KAT6B, XPO5, SARS2, TNFRSF13C, CDKN1B, INVS, CEP83, SLC22A12, TRPM6, SLC22A10, SOX17, DCDC2, TNFRSF13B, MOCOS, SEC61A1, WDR19, HPSE2, IFT27, NUP205, CRB2, GRIP1, BBS7, SLC36A2, MMAA, COQ8B, NPHP4, CHD1L, KIF14, FRAS1, KANK1, MMAB, BICC1, SLC41A1, SBDS, CHRM3, EIF2AK4, EVC2, KIAA0586, GREM1, TTC8, TMEM260, CLCN5, COQ6, CLCNKA, CLCNKB, SLC34A3, CLDN10, CLDN16, CLDN19, APOPT1, LRIG2, SERAC1, SEC63, RMND1, IFT74, INPP5E, AHI1, WDR60, COL4A1, COL4A3, COL4A4, COL4A5, COX10, COX6B1, PEX26, LMBRD1, PDSS2, SLC16A12, ALG8, CR2, FREM1, INF2, B9D1, TACO1, TCTN3, MMACHC, DYNC2LI1, CFHR5, KANK3, CEP104, TMEM216, HOGA1, CTNS, MMADHC, COQ2, ARHGAP24, FREM2, ARL13B, CUBN, CUL3, TTC21B, OFD1, TCTN2, CPLANE1, CYP11B1, CYP11B2, WDR73, CYP17A1, CYP24A1, SDHAF2, TMEM127, TCTN1, CSPP1, BBS10, BBS12, CEP120, ANKS6, TMEM138, KANK4, FLCN, SLC6A19, WDPCP, XPNPEP3, BBIP1, CCDC28B, WDR34, TMEM67, CCNQ, GLIS3, DGKE, DHCR7, B9D2, DIS3L2, MAGT1, IQCB1, NUP93, CEP290, DSTYK, KIAA0556, IFT140, FASTKD2, RPGRIP1L, FAN1, CEP164, TBC1D24, WDR35, CC2D2A, IFT80, KANK2, DMP1, GLIS2, MAPKBP1, DYNC2H1, IFT43, NUP107, BBS9, SLC26A3, IFT172, KIF7, STRA6, POC1B, SLC6A20, EGF, EHHADH, EIF2AK3, EMP2, ENPP1, AGTR1, AGTR2, COA5, AGXT, ETFA, ETFB, ETFDH, EVC, EYA1, FAH, FAT1, FGA, FGF20, FGF23, FH, TMEM231, FN1, ALAD, FXYD2, G6PC, GALNT3, GALT, GANAB, GATA3, GCDH, GCM2, ALMS1, GLA, GLB1, GNAS, GRHPR, GUCY2C, HADHA, HADHB, CFH, CFHR1, CFHR2, HMBS, HMGCL, HNF4A, HPRT1, HRAS, HSD11B2, ICOS, CFI, IL21, ITGA3, ITGA8, APOL1, JAG1, JAK3, ANOS1, KCNA1, KCNJ1, KCNJ10, APRT, KCNJ5, KCNMB1, AQP2, KL, KLHL3, MAFB, LAMA5, LAMB2, LAMC1, LCAT, LIFR, ARG1, LMX1B, LRP2, LRP4, LRP5, LYZ, LZTFL1, ARHGDIA, ABCD4, MAGEC1, MAX, CD46, MEFV, MEN1, MET, MKKS, MKS1, MPL, MS4A1, ASL, MUC1, MMUT, MVK, MYH9, ASS1, MYO1E, NEK1, NF1, NF2, NFKB1, NFKB2, NOTCH2, NPC1, NPHP1, NPHP3, NPHS1, NR3C2, NRIP1, OCRL, OTC, ATP6V1B1, PAX2, PAX6, PCBD1, PCCA, PCCB, ATP6V0A4, ATP7B, PDE3A, PDE6D, PEX1, PEX10, PEX11B, PEX13, PEX14, PEX16, PEX3, PEX6, PEX7, PGAM2, PGK1, AUH, PHEX, AVPR2, PIK3CA, PKD1, PKD2, PKHD1, PMM2, ACAT1, PRKAR1A, PRKCSH, PRPS1, PTH1R, BBS1, BBS2, PTPRO, BBS4, BBS5, PEX19, PEX2, PEX5, PYGM, RAD51C, RBM8A, REN, RET Specificity 1 % Genes 100 %
MAPKBP1. By Fulgent Genetics Fulgent Genetics (United States). MAPKBP1 Specificity 100 % Genes 100 %
Nephronophthisis Panel. By Blueprint Genetics (Finland). SDCCAG8, NEK8, ZNF423, INVS, CEP83, DCDC2, WDR19, NPHP4, TTC21B, ANKS6, TMEM67, IQCB1, CEP290, RPGRIP1L, CEP164, GLIS2, MAPKBP1, IFT172, NPHP1, NPHP3 Specificity 5 % Genes 100 %
Cystic Kidney Disease Panel. By Blueprint Genetics (Finland). SDCCAG8, SIX5, HNF1B, TSC1, TSC2, UMOD, VHL, NEK8, ZNF423, INVS, CEP83, DCDC2, SEC61A1, WDR19, CRB2, NPHP4, COL4A1, TTC21B, OFD1, DZIP1L , (...) View the complete list with 20 more genes Panel complete gene list SDCCAG8, SIX5, HNF1B, TSC1, TSC2, UMOD, VHL, NEK8, ZNF423, INVS, CEP83, DCDC2, SEC61A1, WDR19, CRB2, NPHP4, COL4A1, TTC21B, OFD1, DZIP1L, ANKS6, TMEM67, IQCB1, CEP290, RPGRIP1L, CEP164, GLIS2, MAPKBP1, IFT172, EYA1, GANAB, JAG1, LRP5, NOTCH2, NPHP1, NPHP3, PAX2, PKD1, PKD2, PKHD1 Specificity 3 % Genes 100 %

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Sources and references

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OMIM Rare Disease Search Engine

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