MCID: PRS055
MIFTS: 40

Pierson Syndrome malady

Genetic diseases, Rare diseases, Nephrological diseases categories

Summaries for Pierson Syndrome

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44NIH Rare Diseases, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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 nephrotic syndrome and nephrosis, and has symptoms including micropenis/small penis/agenesis, autosomal recessive inheritance and hemiplegia/diplegia/hemiparesia/limb palsy. An important gene associated with Pierson Syndrome is LAMB2 (laminin, beta 2 (laminin S)), and among its related pathways are Pathways in cancer and Beta-Adrenergic Signaling. Affiliated tissues include kidney, eye and skeletal muscle.

Description from OMIM:48 609049

Aliases & Classifications for Pierson Syndrome

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Sources:
44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM, 50Orphanet, 63UMLS, 37MESH via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Nephrological diseases
Orphanet: 50 
Rare renal diseases


Characteristics (Orphanet epidemiological data):

50
pierson syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

pierson syndrome 44 21 23 48 50 63
microcoria - congenital nephrosis 44 50
microcoria - congenital nephrotic syndrome 44
finnish congenital nephrotic syndrome 63


External Ids:

OMIM48 609049
MESH via Orphanet37 C537185
ICD10 via Orphanet27 N04.8
UMLS via Orphanet64 C1836876

Related Diseases for Pierson Syndrome

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Sources:
18GeneCards, 19GeneDecks
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Diseases related to Pierson Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1nephrotic syndrome10.4
2nephrosis10.3
3proteinuria10.1
4microcoria, congenital10.1
5nephrotic syndrome, type 5, with or without ocular abnormalities10.1
6hereditary nephrotic syndromes10.1
7myopathy10.0LAMB1, LAMB2
8muscular dystrophy9.9LAMB1, LAMB2

Graphical network of diseases related to Pierson Syndrome:



Diseases related to pierson syndrome

Symptoms for Pierson Syndrome

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

609049

Clinical features from OMIM:

609049

Symptoms:

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

Drugs & Therapeutics for Pierson Syndrome

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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

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Sources:
21GeneTests, 23GTR
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Genetic tests related to Pierson Syndrome:

id Genetic test Affiliating Genes
1 Pierson Syndrome21 23 LAMB2

Anatomical Context for Pierson Syndrome

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Sources:
34MalaCards
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MalaCards organs/tissues related to Pierson Syndrome:

34
Kidney, Eye, Skeletal muscle

Animal Models for Pierson Syndrome or affiliated genes

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Publications for Pierson Syndrome

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Sources:
53PubMed
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Articles related to Pierson Syndrome:

(show all 15)
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
Variable phenotype of Pierson syndrome. (18278520)
2008
10
A milder variant of Pierson syndrome. (17943323)
2008
11
Ophthalmological aspects of Pierson syndrome. (18672223)
2008
12
Pierson syndrome: a novel cause of congenital nephrotic syndrome. (16864643)
2006
13
Transgenic isolation of skeletal muscle and kidney defects in laminin beta2 mutant mice: implications for Pierson syndrome. (16452099)
2006
14
Prenatal findings in four consecutive pregnancies with fetal Pierson syndrome, a newly defined congenital nephrosis syndrome. (16450351)
2006
15
Demonstration of two novel LAMB2 mutations in the original Pierson syndrome family reported 42 years ago. (16097004)
2005

Variations for Pierson Syndrome

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Pierson Syndrome:

65
id Symbol AA change Variation ID SNP ID
1LAMB2p.Arg246GlnVAR_031968
2LAMB2p.Arg246TrpVAR_031969
3LAMB2p.Cys321ArgVAR_031970
4LAMB2p.Asn1380LysVAR_031972
5LAMB2p.Leu1393PheVAR_031973

Clinvar genetic disease variations for Pierson Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1LAMB2LAMB2, 1-BP DEL, 3015GdeletionPathogenic
2LAMB2NM_002292.3(LAMB2): c.736C> T (p.Arg246Trp)single nucleotide variantPathogenicrs121912488GRCh37Chr 3, 49168562: 49168562
3LAMB2LAMB2, 1-BP INS, 5259AinsertionPathogenic
4LAMB2NM_002292.3(LAMB2): c.2067C> G (p.Tyr689Ter)single nucleotide variantPathogenicrs121912489GRCh37Chr 3, 49163882: 49163882
5LAMB2NM_002292.3(LAMB2): c.1122T> A (p.Cys374Ter)single nucleotide variantPathogenicrs121912490GRCh37Chr 3, 49167767: 49167767
6NPHS1NM_004646.3(NPHS1): c.121_122delCT (p.Leu41Aspfs)deletionPathogenicrs386833873GRCh37Chr 19, 36342511: 36342512
7NPHS1NM_004646.3(NPHS1): c.3325C> T (p.Arg1109Ter)single nucleotide variantPathogenicrs137853042GRCh37Chr 19, 36322260: 36322260
8NPHS1NM_004646.3(NPHS1): c.3478C> T (p.Arg1160Ter)single nucleotide variantPathogenicrs267606919GRCh37Chr 19, 36321958: 36321958
9NPHS1NM_004646.3(NPHS1): c.793T> C (p.Cys265Arg)single nucleotide variantPathogenicrs267606917GRCh37Chr 19, 36340185: 36340185
10NPHS1NM_004646.3(NPHS1): c.2464G> A (p.Val822Met)single nucleotide variantPathogenicrs267606918GRCh37Chr 19, 36333323: 36333323

Expression for genes affiliated with Pierson Syndrome

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Sources:
2BioGPS, 16Gene 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

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Sources:
51PathCards, 31KEGG, 54QIAGEN, 39NCBI BioSystems Database, 56Reactome
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Pathways related to Pierson Syndrome according to GeneCards/GeneDecks:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1LAMB1, LAMB2
2
Show member pathways
9.1LAMB1, LAMB2
39.1LAMB2, LAMB1
4
Show member pathways
9.1LAMB1, LAMB2
5
Show member pathways
9.1LAMB1, LAMB2
6
Show member pathways
9.1LAMB1, LAMB2
7
Show member pathways
Integrin-mediated cell adhesion39
Focal Adhesion39
9.1LAMB1, LAMB2
8
Show member pathways
9.1LAMB2, LAMB1
99.1LAMB1, LAMB2
10
Show member pathways
Proteogylcan syndecan-mediated signaling events39
9.1LAMB1, LAMB2
11
Show member pathways
9.1LAMB2, LAMB1
129.1LAMB1, LAMB2
13
Show member pathways
9.1LAMB1, LAMB2
149.1LAMB1, LAMB2
159.1LAMB1, LAMB2

Compounds for genes affiliated with Pierson Syndrome

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GO Terms for genes affiliated with Pierson Syndrome

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17Gene Ontology
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Cellular components related to Pierson Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:0055769.1LAMB1, LAMB2
2basement membraneGO:0056049.0LAMB1, LAMB2
3extracellular matrixGO:0310128.8LAMB1, LAMB2

Biological processes related to Pierson Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell adhesionGO:0071559.1LAMB1, LAMB2
2extracellular matrix organizationGO:0301989.0LAMB1, LAMB2
3axon guidanceGO:0074118.8LAMB1, LAMB2

Molecular functions related to Pierson Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1structural molecule activityGO:0051989.1LAMB1, LAMB2
2integrin bindingGO:0051788.8LAMB1, LAMB2

Products for genes affiliated with Pierson Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pierson Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet