Nephronophthisis 11; Nphp11
Clinical Features
Top most frequent phenotypes and symptoms related to Nephronophthisis 11; Nphp11
- Global developmental delay
- Growth delay
- Nystagmus
- Strabismus
- Anemia
- Renal insufficiency
- Stage 5 chronic kidney disease
- Retinal degeneration
- Hepatic fibrosis
- Polydipsia
And another 7 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 11; Nphp11 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
![]() By Baylor Miraca Genetics Laboratories (United States).
RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)
View the complete list with 612 more genes
Specificity
1 %
Genes
100 % |
![]() By Athena Diagnostics Inc (United States).
AHI1, TMEM216, TMEM67, CEP290, CC2D2A, NPHP1
Specificity
17 %
Genes
100 % |
![]() By Athena Diagnostics Inc (United States).
TMEM67
Specificity
100 %
Genes
100 % |
![]() By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
SDCCAG8, ARL6, TRIM32, IFT27, BBS7, TTC8, INPP5E, ADIPOR1, BBS10, BBS12, C8orf37, WDPCP, BBIP1, CCDC28B, TMEM67, CEP290, BBS9, KCNJ13, LZTFL1, MKKS , (...)
View the complete list with 6 more genes
Specificity
4 %
Genes
100 % |
![]() By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
RPE65, RPGR, SDCCAG8, TSC1, TSC2, CEP41, TULP1, USH1C, USH2A, CLRN1, VHL, ZIC3, NEK8, RPGRIP1, CDH23, TMEM237, PCDH15, USH1G, WHRN, TRIM32 , (...)
View the complete list with 73 more genes
Specificity
2 %
Genes
100 % |
![]() By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
SHH, STIL, SIX3, SLC9A6, SOX2, CDKL5, TGIF1, MED12, CEP41, TUBA8, UBE3A, VLDLR, VRK1, ZIC2, ACTB, MRPS16, NSD1, RAB18, ACTG1, SLC25A19 , (...)
View the complete list with 86 more genes
Specificity
1 %
Genes
100 % |
![]() By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
CEP41, TMEM237, INPP5E, AHI1, B9D1, TMEM216, ARL13B, TTC21B, OFD1, TCTN2, CPLANE1, TCTN1, TMEM138, TMEM67, B9D2, CEP290, RPGRIP1L, CC2D2A, KIF7, MKS1 , (...)
View the complete list with 2 more genes
Specificity
5 %
Genes
100 % |
![]() By Genetic Services Laboratory University of Chicago (United States).
CEP41, TMEM237, KIF14, KIAA0586, INPP5E, AHI1, B9D1, TCTN3, CEP104, TMEM216, ARL13B, TTC21B, OFD1, TCTN2, CPLANE1, TCTN1, CSPP1, CEP120, TMEM138, TMEM107 , (...)
View the complete list with 13 more genes
Specificity
4 %
Genes
100 % |
You can get up to 101 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 PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY HEREDITARY CENTRAL DIABETES INSIPIDUS ALTERNATING HEMIPLEGIA OF CHILDHOOD 1; AHC1 CEROID LIPOFUSCINOSIS, NEURONAL, 13; CLN13 MOWAT-WILSON SYNDROME; MOWS EWING SARCOMA; ES FAMILIAL PANCREATIC CARCINOMA