Nephronophthisis 20; Nphp20

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 ).

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.

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Incidence and onset information

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.


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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
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
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
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
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
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
Specificity
3 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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