Nail-patella syndrome

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.

Nephropathy

A nonspecific term referring to disease or damage of the kidneys.


Total: 12

                       


(per page)
PMID (PMCID)
28335748
(5363042)
 FEMALE Young Adult
Steroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome: a case of a de novo LMX1B mutation.
Nakata T, Ishida R, Mihara Y, Fujii A, Inoue Y, Kusaba T, Isojima T, Harita Y, Kanda C, Kitanaka S, Tamagaki K.
BMC Nephrol. 2017;18(1):100.
Nail-patella syndrome (NPS) is an autosomal dominant disorder caused by mutations in the LMX1B gene and is characterized by nail dysplasia, skeletal abnormalities, and nephropathy.
15774843
 MIXED_SAMPLE
Functional characterization of LMX1B mutations associated with nail-patella syndrome.
Sato U, Kitanaka S, Sekine T, Takahashi S, Ashida A, Igarashi T.
Pediatr Res. 2005;57(6):783-8.
Nail-patella syndrome (NPS) is an autosomal dominant disease characterized by dysplastic nails, absent or hypoplastic patellae, elbow dysplasia, and nephropathy.
9742578
 FEMALE Adult
Ultrasound prenatal diagnosis of the Nail-Patella syndrome.
Feingold M, Itzchak Y, Goodman RM.
Prenat Diagn. 1998;18(8):854-6.
The Nail-Patella syndrome (NPS) is an autosomal dominant connective-tissue disorder characterized by the absence or hypoplasia of the nails and patella, posterior illiac horns, elbow deformities, congenital nephropathy cervical ribs and eye problems.
9036142
 FEMALE
[Nail-patella syndrome].
Wildfeuer T, Albrecht G.
Hautarzt. 1996;47(11):860-2.
The nail-patella syndrome is an autosomal dominant trait characterized by abnormalities of the nails, patella and radial head, iliac crest and, in some cases, nephropathy.
8154501
 MIXED_SAMPLE Adult
Inherited diseases of the glomerular basement membrane.
Bodziak KA, Hammond WS, Molitoris BA.
Am J Kidney Dis. 1994;23(4):605-18.
The inherited diseases of the glomerular basement membrane include Alport's syndrome (AS), nail-patella syndrome, and thin basement membrane nephropathy.
8154501
 MIXED_SAMPLE Adult
Inherited diseases of the glomerular basement membrane.
Bodziak KA, Hammond WS, Molitoris BA.
Am J Kidney Dis. 1994;23(4):605-18.
Nail-patella syndrome is characterized by nail dysplasia, patellar hypoplasia or aplasia, and nephropathy.
3225824
 MIXED_SAMPLE Adult
Genetic counselling in hereditary osteo-onychodysplasia (HOOD, nail-patella syndrome) with nephropathy.
Looij BJ Jr, te Slaa RL, Hogewind BL, van de Kamp JJ.
J Med Genet. 1988;25(10):682-6.
Hereditary osteo-onychodysplasia (HOOD, nail-patella syndrome) is an autosomal dominant condition characterised by nail dysplasia, patellar hypoplasia or aplasia, and nephropathy.
3225824
 MIXED_SAMPLE Adult
Genetic counselling in hereditary osteo-onychodysplasia (HOOD, nail-patella syndrome) with nephropathy.
Looij BJ Jr, te Slaa RL, Hogewind BL, van de Kamp JJ.
J Med Genet. 1988;25(10):682-6.
Genetic counselling in hereditary osteo-onychodysplasia (HOOD, nail-patella syndrome) with nephropathy.
3284122
 MALE Child
Nephropathy of nail-patella syndrome.
Taguchi T, Takebayashi S, Nishimura M, Tsuru N.
Ultrastruct Pathol. 1988;12(2):175-83.
Nephropathy of nail-patella syndrome.
3983624
 FEMALE Adult
Membranous nephropathy in a patient with nail-patella syndrome nephropathy.
Mackay IG, Doig A, Thomson D.
Scott Med J. 1985;30(1):47-9.
Membranous nephropathy is described in a patient with nail-patella syndrome who also had the characteristic changes of nail-patella syndrome nephropathy on electron microscopy.
3983624
 FEMALE Adult
Membranous nephropathy in a patient with nail-patella syndrome nephropathy.
Mackay IG, Doig A, Thomson D.
Scott Med J. 1985;30(1):47-9.
Nail-patella syndrome nephropathy is reviewed in relation to other glomerular lesions which have been reported.
3983624
 FEMALE Adult
Membranous nephropathy in a patient with nail-patella syndrome nephropathy.
Mackay IG, Doig A, Thomson D.
Scott Med J. 1985;30(1):47-9.
Membranous nephropathy is described in a patient with nail-patella syndrome who also had the characteristic changes of nail-patella syndrome nephropathy on electron microscopy.