MCID: PRS055
MIFTS: 40

Pierson Syndrome malady

Genetic diseases, Rare diseases, Nephrological diseases categories
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Summaries for Pierson Syndrome

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NIH Rare Diseases:42 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 based summary: Pierson Syndrome, also known as microcoria - congenital nephrosis, is related to nephrotic syndrome 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)), and among its related pathways are Pathways in cancer and Beta-Adrenergic Signaling. Affiliated tissues include kidney, eye and skeletal muscle.

Description from OMIM:46 609049

Aliases & Classifications for Pierson Syndrome

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Pierson Syndrome, Aliases & Descriptions:

Name: Pierson Syndrome 42 20 22 46 48 62
Microcoria - Congenital Nephrosis 42 48
 
Microcoria - Congenital Nephrotic Syndrome 42
Finnish Congenital Nephrotic Syndrome 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Nephrological diseases
Orphanet: 48 
Rare renal diseases


Characteristics (Orphanet epidemiological data):

48
pierson syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


External Ids:

OMIM46 609049
MESH via Orphanet35 C537185
ICD10 via Orphanet26 N04.8
UMLS via Orphanet63 C1836876

Related Diseases for Pierson Syndrome

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

idRelated DiseaseScoreTop Affiliating Genes
1nephrotic syndrome10.5
2nephrosis10.3
3proteinuria10.1
4microcoria, congenital10.1
5nephrotic syndrome, type 5, with or without ocular abnormalities10.1
6hereditary nephrotic syndromes10.1
7myopathy9.9LAMB1, LAMB2
8muscular dystrophy9.8LAMB1, LAMB2

Graphical network of diseases related to Pierson Syndrome:



Diseases related to pierson syndrome

Symptoms for Pierson Syndrome

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Symptoms by clinical synopsis from OMIM:

609049

Clinical features from OMIM:

609049

Symptoms:

48 (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

HPO human phenotypes related to Pierson Syndrome:

(show all 25)
id Description Frequency HPO Source Accession
1 proteinuria hallmark (90%) HP:0000093
2 nephrotic syndrome hallmark (90%) HP:0000100
3 cataract hallmark (90%) HP:0000518
4 nystagmus hallmark (90%) HP:0000639
5 hematuria hallmark (90%) HP:0000790
6 hypertension hallmark (90%) HP:0000822
7 muscular hypotonia hallmark (90%) HP:0001252
8 eeg abnormality hallmark (90%) HP:0002353
9 hemiplegia/hemiparesis hallmark (90%) HP:0004374
10 abnormality of movement hallmark (90%) HP:0100022
11 hypoplasia of penis typical (50%) HP:0008736
12 autosomal recessive inheritance HP:0000007
13 proteinuria HP:0000093
14 nephrotic syndrome HP:0000100
15 blindness HP:0000618
16 edema HP:0000969
17 muscular hypotonia HP:0001252
18 areflexia HP:0001284
19 diffuse mesangial sclerosis HP:0001967
20 hypoproteinemia HP:0003075
21 neonatal onset HP:0003623
22 stage 5 chronic kidney disease HP:0003774
23 hypoplasia of the iris HP:0007676
24 hypoplasia of the ciliary body HP:0007774
25 posterior lenticonus HP:0011502

Drugs & Therapeutics for Pierson Syndrome

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Drug clinical trials:

Search ClinicalTrials for Pierson Syndrome

Search NIH Clinical Center for Pierson Syndrome

Genetic Tests for Pierson Syndrome

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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

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MalaCards organs/tissues related to Pierson Syndrome:

32
Kidney, Eye, Skeletal muscle

Animal Models for Pierson Syndrome or affiliated genes

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Publications for Pierson Syndrome

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Articles related to Pierson Syndrome:

(show all 15)
idTitleAuthorsYear
1
Pierson Syndrome - A Rare Cause of Congenital Nephrotic Syndrome. (24944146)
2014
2
Next generation sequencing to dissect hereditary nephrotic syndrome in mice identifies a hypomorphic mutation in Lamb2 and models Pierson Syndrome. (24293254)
2013
3
A novel mutation of laminin I^-2 gene in Pierson syndrome manifested with nephrotic syndrome in the early neonatal period. (24032283)
2013
4
First Japanese case of Pierson syndrome with mutations in LAMB2. (23679161)
2013
5
Pierson syndrome in an adolescent girl with nephrotic range proteinuria but a normal GFR. (22228401)
2012
6
A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome. (21236492)
2011
7
Forced expression of laminin beta1 in podocytes prevents nephrotic syndrome in mice lacking laminin beta2, a model for Pierson syndrome. (21876163)
2011
8
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
9
The first Chinese Pierson syndrome with novel mutations in LAMB2. (19861315)
2010
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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UniProtKB/Swiss-Prot genetic disease variations for Pierson Syndrome:

64
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:

6
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

Expression for genes affiliated with Pierson Syndrome

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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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Pathways related to Pierson Syndrome according to GeneCards/GeneDecks:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1LAMB2, LAMB1
2
Show member pathways
9.1LAMB2, LAMB1
39.1LAMB2, LAMB1
4
Show member pathways
9.1LAMB2, LAMB1
5
Show member pathways
9.1LAMB1, LAMB2
6
Show member pathways
9.1LAMB2, LAMB1
7
Show member pathways
Integrin-mediated cell adhesion37
Focal Adhesion37
9.1LAMB2, LAMB1
8
Show member pathways
9.1LAMB2, LAMB1
99.1LAMB2, LAMB1
10
Show member pathways
Proteogylcan syndecan-mediated signaling events37
9.1LAMB1, LAMB2
11
Show member pathways
9.1LAMB2, LAMB1
129.1LAMB2, LAMB1
13
Show member pathways
9.1LAMB2, LAMB1
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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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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Sources for Pierson Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet