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.
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
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Investigator of research projectVILLENEUVE D'ASCQ — Pr Pascal ANTOINE
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Institution/s:
— Sciences Cognitives & Sciences Affectives, Université Lille 3 -
Research area/topic::
Impact of three rare genetic diseases: comparative and exploratory psychosocial research
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Institution/s:
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Investigator of research project - Director of departmentREGENSBURG — Pr Ralph WITZGALL
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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)
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Institution/s:
Nail-patella Syndrome 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 Baylor Miraca Genetics Laboratories (United States).
LMX1B
Specificity
100 %
Genes
100 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
LMX1B
Specificity
100 %
Genes
100 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
LMX1B
Specificity
100 %
Genes
100 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
LMX1B
Specificity
100 %
Genes
100 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
LMX1B
Specificity
100 %
Genes
100 % |
![]() 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 % |
![]() 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 Genetic Syndrome FinderIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like QUEBEC PLATELET DISORDER; QPD IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2; ICF2