Nail-patella-like Renal Disease
Description
Nail-patella-like renal disease is a severe nephropathy characterised by renal dysfunction, proteinuria, oedema and microscopic haematuria. It has been described in three brothers, two of which died from end-stage renal insufficiency.
Clinical Features
Phenotypes and symptoms related to Nail-patella-like Renal Disease
- Short stature
- Hypertension
- Abnormality of the skeletal system
- Renal insufficiency
- Proteinuria
- Nephropathy
- Glomerulopathy
- Microscopic hematuria
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.
Alternative names
Nail-patella-like Renal Disease Is also known as glomerular basement membrane disease, nail-patella syndrome type, salcedo syndrome.
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.Nail-patella-like Renal Disease Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
MitoMet®Plus aCGH Analysis.
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 % |
LMX1B Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
LMX1B
Specificity
100 %
Genes
100 % |
LMX1B Deletion/Duplication Analysis (Prenatal Diagnosis).
By Baylor Miraca Genetics Laboratories (United States).
LMX1B
Specificity
100 %
Genes
100 % |
LMX1B Sequence Analysis.
By Baylor Miraca Genetics Laboratories (United States).
LMX1B
Specificity
100 %
Genes
100 % |
LMX1B Sequence Analysis (Familial Mutation/Variant Analysis).
By Baylor Miraca Genetics Laboratories (United States).
LMX1B
Specificity
100 %
Genes
100 % |
LMX1B Sequence Analysis (Prenatal Diagnosis).
By Baylor Miraca Genetics Laboratories (United States).
LMX1B
Specificity
100 %
Genes
100 % |
Optic Atrophy and Early Glaucoma Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
SLC4A4, SPG7, TBK1, ACO2, BEST1, WFS1, ACVR1, OPTN, ASB10, MFRP, CANT1, SBF2, COL4A1, CISD2, TMEM126A, MTPAP, CYP1B1, C12orf65, SH3PXD2B, FOXC1 , (...)
View the complete list with 14 more genes
Specificity
3 %
Genes
100 % |
Exome PLUS Proteinuria/FSGS & Hematuria.
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine (United States).
CFB, TRPC6, TSC1, TSC2, C1QA, C1QC, WT1, C3, NPHS2, ADAMTS13, ACTN4, PLCE1, CLCN5, COL4A3, COL4A4, COL4A5, INF2, DGKE, ALMS1, GLA , (...)
View the complete list with 12 more genes
Specificity
4 %
Genes
100 % |
You can get up to 41 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
ORPHANET MESH OMIM Rare Disease Symptoms CheckerIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like RITSCHER-SCHINZEL SYNDROME 2; RTSC2 PARASTREMMATIC DWARFISM