MCID: PRS055
MIFTS: 29

Pierson Syndrome malady

Nephrological category

Summaries for Pierson Syndrome

Sources:
43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Pierson syndrome is a disease chiefly affecting the kidneys and eyes. it is characterized by the association of congenital nephrotic syndrome and ocular (eye) abnormalities with microcoria (small pupils that are not responsive to light). nephrotic syndrome causes proteinuria (protein in the urine). ocular anomalies are present from birth and may include microcoria associated with absence of the pupillary dilator muscle in the iris and abnormal eye development with lens-shape, retinal and corneal anomalies. hypotonia (poor muscle tone), movement disorders and psychomotor delay have also been reported. pierson syndrome is caused by mutations in the lamb2 gene and is inherited in an autosomal recessive manner. last updated: 7/11/2011

MalaCards: Pierson Syndrome, also known as microcoria - congenital nephrosis, is related to congenital nephrotic syndrome finnish type and nephrosis, and has symptoms including cataract/lens opacification, nystagmus and chronic arterial hypertension. An important gene associated with Pierson Syndrome is LAMB2 (laminin, beta 2 (laminin S)). Affiliated tissues include skeletal muscle and kidney.

Description from OMIM:47 609049

Aliases & Classifications for Pierson Syndrome

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 49Orphanet, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Nephrological


Characteristics (Orphanet epidemiological data):

49
pierson syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

pierson syndrome 43 20 22 47 49 61
microcoria - congenital nephrosis 43 49
microcoria - congenital nephrotic syndrome 43
finnish congenital nephrotic syndrome 61


External Ids:

OMIM47 609049
MESH via Orphanet36 C537185
ICD10 via Orphanet26 N04.8
UMLS via Orphanet62 C1836876

Related Diseases for Pierson Syndrome

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Pierson Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1congenital nephrotic syndrome finnish type10.2
2nephrosis10.2
3microcoria, congenital10.1
4kid syndrome10.1
5nephrotic syndrome, type 5, with or without ocular abnormalities10.1

Graphical network of diseases related to Pierson Syndrome:



Diseases related to pierson syndrome

Clinical Features for Pierson Syndrome

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

609049

Clinical synopsis from OMIM:

609049

Symptoms:

49 (show all 12)
  • cataract/lens opacification
  • nystagmus
  • chronic arterial hypertension
  • nephrotic syndrome
  • proteinuria
  • hematuria/microhematuria
  • eeg anomalies
  • movement disorder
  • hypotonia
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • autosomal recessive inheritance
  • micropenis/small penis/agenesis

Drugs & Therapeutics for Pierson Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Pierson Syndrome

Drug clinical trials:

Search ClinicalTrials for Pierson Syndrome

Search NIH Clinical Center for Pierson Syndrome

Search CenterWatch for Pierson Syndrome

Genetic Tests for Pierson Syndrome

Sources:
20GeneTests, 22GTR
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Genetic tests related to Pierson Syndrome:

id Genetic test Affiliating Genes
1 Pierson Syndrome20 22 LAMB2

Anatomical Context for Pierson Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to Pierson Syndrome:

33
Skeletal muscle, Kidney

Animal Models for Pierson Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Pierson Syndrome

Sources:
51PubMed
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Articles related to Pierson Syndrome:

(show all 17)
idTitleAuthorsYear
1
Next generation sequencing to dissect hereditary nephrotic syndrome in mice identifies a hypomorphic mutation in Lamb2 and models Pierson Syndrome. (24293254)
2013
2
A novel mutation of laminin I^-2 gene in Pierson syndrome manifested with nephrotic syndrome in the early neonatal period. (24032283)
2013
3
First Japanese case of Pierson syndrome with mutations in LAMB2. (23679161)
2013
4
Pierson syndrome in an adolescent girl with nephrotic range proteinuria but a normal GFR. (22228401)
2012
5
A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome. (21236492)
2011
6
Forced expression of laminin beta1 in podocytes prevents nephrotic syndrome in mice lacking laminin beta2, a model for Pierson syndrome. (21876163)
2011
7
Paternal isodisomy of chromosome 3 unmasked by autosomal recessive microcoria-congenital nephrosis syndrome (Pierson syndrome) in a child with no other phenotypic abnormalities. (21910237)
2011
8
The first Chinese Pierson syndrome with novel mutations in LAMB2. (19861315)
2010
9
Unique Ocular Findings in an Infant with Pierson (Microcoria-Congenital Nephrosis) Syndrome. (19645379)
2009
10
Variable phenotype of Pierson syndrome. (18278520)
2008
11
A milder variant of Pierson syndrome. (17943323)
2008
12
Ophthalmological aspects of Pierson syndrome. (18672223)
2008
13
Neurodevelopmental deficits in Pierson (microcoria-congenital nephrosis) syndrome. (17256789)
2007
14
Pierson syndrome: a novel cause of congenital nephrotic syndrome. (16864643)
2006
15
Transgenic isolation of skeletal muscle and kidney defects in laminin beta2 mutant mice: implications for Pierson syndrome. (16452099)
2006
16
Prenatal findings in four consecutive pregnancies with fetal Pierson syndrome, a newly defined congenital nephrosis syndrome. (16450351)
2006
17
Demonstration of two novel LAMB2 mutations in the original Pierson syndrome family reported 42 years ago. (16097004)
2005

Genetic Variations for Pierson Syndrome

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Pierson Syndrome:

63
id Symbol AA change Variation SNP ID
1LAMB2p.Arg246GlnVAR_031968
2LAMB2p.Arg246TrpVAR_031969
3LAMB2p.Cys321ArgVAR_031970
4LAMB2p.Asn1380LysVAR_031972
5LAMB2p.Leu1393PheVAR_031973

Expression for genes affiliated with Pierson Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Pierson Syndrome

Search GEO for disease gene expression data for Pierson Syndrome.

Pathways for genes affiliated with Pierson Syndrome

Compounds for genes affiliated with Pierson Syndrome

GO Terms for genes affiliated with Pierson Syndrome

Products for genes affiliated with Pierson Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pierson Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet