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Pierson syndrome

A rare syndrome characterised by the association of congenital nephrotic syndrome and ocular anomalies with microcoria.

Congenital nephrotic syndrome

Nephrotic syndrome with onset within the first three months of life.

Total: 12

(per page)

PMID (PMCID)
28188379 (5352804)	FEMALE	Child
	A novel mutation of laminin beta2 (LAMB2) in two siblings with renal failure.
	Falix FA, Bennebroek CA, van der Zwaag B, Lapid-Gortzak R, Florquin S, Oosterveld MJ. Eur J Pediatr. 2017;176(4):515-519.
	What is known 8226 LAMB2 mutations are associated with Pierson syndrome 8226 Pierson syndrome is associated with congenital nephrotic syndrome, microcoria and neurological deficits What is new 8226 A novel mutation in the LAMB2 gene in two female siblings 8226 Genotype and clinical phenotype description of a novel LAMB2 mutation.
28188379 (5352804)	FEMALE	Child
	A novel mutation of laminin beta2 (LAMB2) in two siblings with renal failure.
	Falix FA, Bennebroek CA, van der Zwaag B, Lapid-Gortzak R, Florquin S, Oosterveld MJ. Eur J Pediatr. 2017;176(4):515-519.
	What is known 8226 LAMB2 mutations are associated with Pierson syndrome 8226 Pierson syndrome is associated with congenital nephrotic syndrome, microcoria and neurological deficits What is new 8226 A novel mutation in the LAMB2 gene in two female siblings 8226 Genotype and clinical phenotype description of a novel LAMB2 mutation.
29094445	MALE
	Kidney transplantation in a child with Pierson syndrome.
	Guler S, Cimen S, Acott P, Whelan K, Molinari M. Pediatr Transplant. 2017;21(8):.
	Mutation of the LAMB2 gene is associated with Pierson syndrome, which is an autosomal recessive disorder characterized by congenital nephrotic syndrome and ocular abnormalities.
27925579	FEMALE	Infant
	LAMB2 mutation with different phenotypes in China .
	Zhang H, Cui J, Wang F, Xiao H, Ding J, Yao Y. Clin Nephrol. 2017;87 (2017)(1):33-38.
	Mutations of the LAMB2 gene mainly cause Pierson syndrome (OMIM) #609049), characterized by congenital nephrotic syndrome (CNS) and complex ocular involvements with microcoria as the most prominent clinical feature.
27004562 (4802576)	FEMALE	Infant
	Simultaneous mutations of LAMB2 and NPHP1genes in a Chinese girl with isolated congenital nephrotic syndrome: a case report.
	Qiu L, Zhou J. BMC Pediatr. 2016;16:44.
	LAMB2 mutations cause Pierson syndrome (OMIM 609049), an autosomal recessive genetic disease typically characterized by congenital nephrotic syndrome (CNS) and early onset renal failure, as well as bilateral microcoria.
24032283	FEMALE	Infant, Newborn
	A novel mutation of laminin beta-2 gene in Pierson syndrome manifested with nephrotic syndrome in the early neonatal period.
	Aydin B, Ipek MS, Ozaltin F, Zenciroglu A, Dilli D, Beken S, Okumus N, Hosagasi N, Saygili-Karagol B, Kundak A, Renda R, Aydog O. Genet Couns. 2013;24(2):141-7.
	Pierson syndrome is a rare autosomal recessive disorder which is mainly characterized by congenital nephrotic syndrome (CNS), diffuse mesangial sclerosis (DMS) and distinct ocular abnormalities, including microcoria.
22228401	FEMALE
	Pierson syndrome in an adolescent girl with nephrotic range proteinuria but a normal GFR.
	Lehnhardt A, Lama A, Amann K, Matejas V, Zenker M, Kemper MJ. Pediatr Nephrol. 2012;27(5):865-8.
	Pierson syndrome, caused by mutations in the LAMB2 gene, was originally described as a combination of microcoria and congenital nephrotic syndrome, rapidly progressing to end-stage renal failure.
19861315	FEMALE
	The first Chinese Pierson syndrome with novel mutations in LAMB2.
	Zhao D, Ding J, Wang F, Fan Q, Guan N, Wang S, Zhang Y. Nephrol Dial Transplant. 2010;25(3):776-8.
	Pierson syndrome is typically manifested with congenital nephrotic syndrome (CNS) and peculiar ocular changes.
18278520	FEMALE	Infant, Newborn
	Variable phenotype of Pierson syndrome.
	Choi HJ, Lee BH, Kang JH, Jeong HJ, Moon KC, Ha IS, Yu YS, Matejas V, Zenker M, Choi Y, Cheong HI. Pediatr Nephrol. 2008;23(6):995-1000.
	Pierson syndrome is caused by mutations in the LAMB2 gene, which encodes the laminin beta2 chain, and is clinically characterized by congenital nephrotic syndrome (CNS) and bilateral microcoria.
16864643	MIXED_SAMPLE	Infant, Newborn
	Pierson syndrome: a novel cause of congenital nephrotic syndrome.
	VanDeVoorde R, Witte D, Kogan J, Goebel J. Pediatrics. 2006;118(2):e501-5.
	Pierson syndrome: a novel cause of congenital nephrotic syndrome.
16864643	MIXED_SAMPLE	Infant, Newborn
	Pierson syndrome: a novel cause of congenital nephrotic syndrome.
	VanDeVoorde R, Witte D, Kogan J, Goebel J. Pediatrics. 2006;118(2):e501-5.
	We conclude that Pierson syndrome should be included in the differential diagnosis for congenital nephrotic syndrome, especially in patients with ocular abnormalities.
16450351	MIXED_SAMPLE	Infant
	Prenatal findings in four consecutive pregnancies with fetal Pierson syndrome, a newly defined congenital nephrosis syndrome.
	Mark K, Reis A, Zenker M. Prenat Diagn. 2006;26(3):262-6.
	To describe the prenatal findings in Pierson syndrome, a newly defined autosomal recessive entity, comprising congenital nephrotic syndrome (CNS) with diffuse mesangial sclerosis and distinct eye abnormalities due to LAMB2 mutations.