Nail-patella Syndrome

Description

Nail-patella syndrome (NPS) is a rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies.

Clinical Features

Top most frequent phenotypes and symptoms related to Nail-patella Syndrome

  • Hearing impairment
  • Cataract
  • Hypertension
  • Renal insufficiency
  • Glaucoma
  • Skeletal dysplasia
  • Proteinuria
  • Joint stiffness
  • Joint hyperflexibility
  • Hematuria

And another 22 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available Nail-patella Syndrome have a estimated birth prevalence of 0.2 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Nail-patella Syndrome Is also known as turner-kieser syndrome, onychoosteodysplasia.

Researches and researchers

Doctors, researchs, and experts related to Nail-patella Syndrome extracted from public data.

Nail-patella Syndrome Experts map



Current Researchs and researchers

  • VILLENEUVE D'ASCQ — Pr Pascal ANTOINE

    Investigator of research project

    • Institution/s:
      — Sciences Cognitives & Sciences Affectives, Université Lille 3
    • Research area/topic::

      Impact of three rare genetic diseases: comparative and exploratory psychosocial research


  • REGENSBURG — Pr Ralph WITZGALL

    Investigator of research project - Director of department

    • Institution/s:
      — NWFIII - Biologie und Vorklinische Medizin, Universität Regensburg
    • Research area/topic::

      Structural, physiological and molecular basis of renal function - task A (glomerular and tubular function) : Interaction and target genes of LMX1B (causative for nail-patella syndrome)



Mendelian

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Nail-patella Syndrome 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 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

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