Nephronophthisis 18; Nphp18
Description
Nephronophthisis-18 is an autosomal recessive disorder characterized by chronic tubulointerstitial nephritis resulting in end-stage renal disease in early childhood. Extrarenal manifestations, including intellectual disability or liver changes, may occur in some patients (summary by Failler et al., 2014).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 18; Nphp18
- Intellectual disability
- Strabismus
- Delayed speech and language development
- Hypertension
- Hydrocephalus
- Stage 5 chronic kidney disease
- Cholestasis
- Nephritis
- Nephronophthisis
- Tubulointerstitial nephritis
And another 4 symptoms. If you need more information about this disease we can help you.
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 18; Nphp18 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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Nephronophthisis Deletion/Duplication Panel.
By Genetic Services Laboratory University of Chicago (United States).
SDCCAG8, NEK8, ZNF423, INVS, CEP83, DCDC2, WDR19, NPHP4, TTC21B, ANKS6, XPNPEP3, TMEM67, IQCB1, CEP290, RPGRIP1L, CEP164, GLIS2, IFT172, NPHP1, NPHP3
Specificity
5 %
Genes
100 % |
Renal Cystic Disorders Sequencing Panel.
By Genetic Services Laboratory University of Chicago (United States).
SALL1, SDCCAG8, HNF1B, TFAP2A, TSC1, TSC2, CEP41, UMOD, VHL, ARL6, NEK8, TMEM237, TRIM32, CDC73, INVS, CEP83, DCDC2, WDR19, CRB2, BBS7 , (...)
View the complete list with 55 more genes
Specificity
2 %
Genes
100 % |
Nephronophthisis Sequencing Panel.
By Genetic Services Laboratory University of Chicago (United States).
SDCCAG8, NEK8, ZNF423, INVS, CEP83, DCDC2, WDR19, NPHP4, TTC21B, ANKS6, XPNPEP3, TMEM67, IQCB1, CEP290, RPGRIP1L, CEP164, GLIS2, IFT172, NPHP1, NPHP3
Specificity
5 %
Genes
100 % |
Nephronophthisis (NGS panel for 19 genes).
By CGC Genetics (Portugal).
SDCCAG8, NEK8, ZNF423, INVS, CEP83, DCDC2, WDR19, NPHP4, TTC21B, ANKS6, XPNPEP3, TMEM67, IQCB1, CEP290, RPGRIP1L, CEP164, GLIS2, NPHP1, NPHP3
Specificity
6 %
Genes
100 % |
Ciliopathies (NGS panel for 90 genes).
By CGC Genetics (Portugal).
SDCCAG8, SPAG1, CEP41, RSPH1, CFAP298, ARL6, NEK8, TMEM237, TRIM32, NME8, LRRC6, ZNF423, INVS, CEP83, DCDC2, WDR19, CCNO, IFT27, DNAI2, BBS7 , (...)
View the complete list with 70 more genes
Specificity
2 %
Genes
100 % |
Nephronophthisis and Senior-Loken Syndrome Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
SDCCAG8, NEK8, ZNF423, INVS, CEP83, DCDC2, WDR19, NPHP4, TTC21B, ANKS6, TMEM67, IQCB1, CEP290, RPGRIP1L, CEP164, GLIS2, NPHP1, NPHP3
Specificity
6 %
Genes
100 % |
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
RGS9, RHO, GRK1, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RS1, CNNM4, SAG, SDCCAG8, SEMA4A, SLC24A1, SLC4A7, SPP2, PLK4, TEAD1 , (...)
View the complete list with 286 more genes
Specificity
1 %
Genes
100 % |
Ciliopathy Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
RPGR, SDCCAG8, SPAG1, CEP41, RSPH1, ZIC3, CFAP298, ARL6, NEK8, TMEM237, TRIM32, NME8, LRRC6, ZNF423, ACVR2B, INVS, CEP83, DCDC2, WDR19, CCNO , (...)
View the complete list with 73 more genes
Specificity
2 %
Genes
100 % |
You can get up to 15 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM Rare Disease Search EngineIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT; SPG6 LISSENCEPHALY 4; LIS4 PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED; XLEPP GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO CHROMOSOME 15q14 DELETION SYNDROME