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

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.


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Nail-patella-like Renal Disease Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®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 %

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Sources and references

You can check the following sources for additional information.

ORPHANET MESH OMIM Rare Disease Symptoms Checker

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