PIERSS
MCID: PRS055
MIFTS: 46

Pierson Syndrome (PIERSS) malady

Categories: Genetic diseases, Rare diseases, Nephrological diseases

Aliases & Classifications for Pierson Syndrome

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Pierson Syndrome:

Name: Pierson Syndrome 52 11 48 24 54 70 27 12 39 13 68
Microcoria-Congenital Nephrotic Syndrome 24 70
Microcoria-Congenital Nephrosis Syndrome 11 54
 
Microcoria - Congenital Nephrotic Syndrome 48
Microcoria - Congenital Nephrosis 48
Pierss 70

Characteristics:

Orphanet epidemiological data:

54
pierson syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

64
pierson syndrome:
Inheritance: autosomal recessive inheritance
Onset and clinical course: neonatal onset

Classifications:

Orphanet: 54 
Rare renal diseases


External Ids:

OMIM52 609049
Disease Ontology11 DOID:0060852
ICD1030 N04.8
MeSH39 C537185
Orphanet54 ORPHA2670
MESH via Orphanet40 C537185
UMLS via Orphanet69 C1836876
ICD10 via Orphanet31 N04.8
MedGen37 C1836876

Summaries for Pierson Syndrome

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NIH Rare Diseases:48 Pierson syndrome is a very rare condition that mainly affects the kidneys and eyes. signs and symptoms include congenital nephrotic syndrome and distinct ocular (eye) abnormalities, including microcoria (small pupils that are not responsive to light). most affected children have early-onset, chronic renal failure; neurodevelopmental problems; and blindness. hypotonia (poor muscle tone) and movement disorders have also been reported. pierson syndrome is caused by changes (mutations) in the lamb2 gene and is inherited in an autosomal recessive manner. the long-term outlook is poor; affected infants may not survive past the first weeks or months of life. last updated: 3/23/2016

MalaCards based summary: Pierson Syndrome, also known as microcoria-congenital nephrotic syndrome, is related to nephrotic syndrome, type 5, with or without ocular abnormalities and nephrotic syndrome, and has symptoms including edema, edema and proteinuria. An important gene associated with Pierson Syndrome is LAMB2 (Laminin Subunit Beta 2), and among its related pathways are miRNA targets in ECM and membrane receptors and Cell adhesion_Endothelial cell contacts by non-junctional mechanisms. Affiliated tissues include eye, kidney and skeletal muscle, and related mouse phenotypes are renal/urinary system and mortality/aging.

Disease Ontology:11 An autosomal recessive disease characterized by nephrotic syndrome with diffuse mesangial sclerosis, proteinuria, microcoria, absence of the pupillary dilator muscle in the iris, ciliary muscle atrophy, and abnormal eye development with lens-shape, retinal and corneal anomalies that has material basis in homozygous or compound heterozygous mutation in the LAMB2 on chromosome 3p21.

OMIM:52 Pierson syndrome is an autosomal recessive disorder comprising congenital nephrotic syndrome with diffuse mesangial... (609049) more...

UniProtKB/Swiss-Prot:70 Pierson syndrome: Characterized by nephrotic syndrome with neonatal onset, diffuse mesangial sclerosis and eye abnormalities with microcoria as the leading clinical feature. Death usually occurs within the first weeks of life. Disease severity depends on the mutation type: nontruncating LAMB2 mutations may display variable phenotypes ranging from a milder variant of Pierson syndrome to isolated congenital nephrotic syndrome.

Related Diseases for Pierson Syndrome

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Graphical network of diseases related to Pierson Syndrome:



Diseases related to pierson syndrome

Symptoms & Phenotypes for Pierson Syndrome

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Symptoms by clinical synopsis from OMIM:

609049

Clinical features from OMIM:

609049

Human phenotypes related to Pierson Syndrome:

 64 (show all 12)
id Description HPO Frequency HPO Source Accession
1 proteinuria64 HP:0000093
2 nephrotic syndrome64 HP:0000100
3 blindness64 HP:0000618
4 edema64 HP:0000969
5 muscular hypotonia64 HP:0001252
6 areflexia64 HP:0001284
7 diffuse mesangial sclerosis64 HP:0001967
8 hypoproteinemia64 HP:0003075
9 stage 5 chronic kidney disease64 HP:0003774
10 hypoplasia of the iris64 HP:0007676
11 hypoplasia of the ciliary body64 HP:0007774
12 posterior lenticonus64 HP:0011502

UMLS symptoms related to Pierson Syndrome:


edema

MGI Mouse Phenotypes related to Pierson Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.4COL4A1, LAMA5, LAMB2, NPHS2
2MP:00107687.8COL4A1, ERC1, LAMA5, LAMB1, LAMB2, NPHS2

Drugs & Therapeutics for Pierson Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Lifestyle Intervention for Polycystic Ovary Syndrome: Pulse-Based Diet and ExerciseUnknown statusNCT01288638
2Noninvasive Screening for Affected Pregnancies: Assay Development & Optimization in Affected PregnanciesRecruitingNCT01052688

Search NIH Clinical Center for Pierson Syndrome


Cochrane evidence based reviews: pierson syndrome

Genetic Tests for Pierson Syndrome

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Genetic tests related to Pierson Syndrome:

id Genetic test Affiliating Genes
1 Pierson Syndrome27 24 LAMB2

Anatomical Context for Pierson Syndrome

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MalaCards organs/tissues related to Pierson Syndrome:

36
Eye, Kidney, Skeletal muscle

Publications for Pierson Syndrome

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Articles related to Pierson Syndrome:

(show all 17)
idTitleAuthorsYear
1
A novel LAMB2 gene mutation associated with a severe phenotype in a neonate with Pierson syndrome. (27130041)
2016
2
Pierson Syndrome - A Rare Cause of Congenital Nephrotic Syndrome. (24944146)
2014
3
Next generation sequencing to dissect hereditary nephrotic syndrome in mice identifies a hypomorphic mutation in Lamb2 and models Pierson Syndrome. (24293254)
2013
4
A novel mutation of laminin I^-2 gene in Pierson syndrome manifested with nephrotic syndrome in the early neonatal period. (24032283)
2013
5
First Japanese case of Pierson syndrome with mutations in LAMB2. (23679161)
2013
6
Pierson syndrome in an adolescent girl with nephrotic range proteinuria but a normal GFR. (22228401)
2012
7
Forced expression of laminin beta1 in podocytes prevents nephrotic syndrome in mice lacking laminin beta2, a model for Pierson syndrome. (21876163)
2011
8
A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome. (21236492)
2011
9
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
10
The first Chinese Pierson syndrome with novel mutations in LAMB2. (19861315)
2010
11
Variable phenotype of Pierson syndrome. (18278520)
2008
12
A milder variant of Pierson syndrome. (17943323)
2008
13
Ophthalmological aspects of Pierson syndrome. (18672223)
2008
14
Prenatal findings in four consecutive pregnancies with fetal Pierson syndrome, a newly defined congenital nephrosis syndrome. (16450351)
2006
15
Transgenic isolation of skeletal muscle and kidney defects in laminin beta2 mutant mice: implications for Pierson syndrome. (16452099)
2006
16
Pierson syndrome: a novel cause of congenital nephrotic syndrome. (16864643)
2006
17
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:

70
id Symbol AA change Variation ID SNP ID
1LAMB2p.Arg246GlnVAR_031968rs121912491
2LAMB2p.Arg246TrpVAR_031969rs121912488
3LAMB2p.Cys321ArgVAR_031970rs121912492
4LAMB2p.Asn1380LysVAR_031972rs267607207
5LAMB2p.Leu1393PheVAR_031973rs267607208

Clinvar genetic disease variations for Pierson Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1LAMB2LAMB2, 1-BP DEL, 3015GdeletionPathogenic
2LAMB2NM_ 002292.3(LAMB2): c.736C> T (p.Arg246Trp)SNVPathogenicrs121912488GRCh37Chr 3, 49168562: 49168562
3LAMB2LAMB2, 1-BP INS, 5259AinsertionPathogenic
4LAMB2NM_ 002292.3(LAMB2): c.2067C> G (p.Tyr689Ter)SNVPathogenicrs121912489GRCh37Chr 3, 49163882: 49163882
5LAMB2NM_ 002292.3(LAMB2): c.1122T> A (p.Cys374Ter)SNVPathogenicrs121912490GRCh37Chr 3, 49167767: 49167767
6LAMB2NM_ 002292.3(LAMB2): c.2890C> T (p.Arg964Ter)SNVPathogenicrs730880125GRCh37Chr 3, 49162353: 49162353

Expression for genes affiliated with Pierson Syndrome

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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 Suite gene sharing:

(show all 20)
idSuper pathwaysScoreTop Affiliating Genes
19.5COL4A1, LAMB2
29.5COL4A1, LAMB1
39.5COL4A1, LAMB1
49.5COL4A1, LAMB1
5
Show member pathways
9.0LAMA5, LAMB1, LAMB2
69.0LAMA5, LAMB1, LAMB2
7
Show member pathways
9.0LAMA5, LAMB1, LAMB2
8
Show member pathways
9.0LAMA5, LAMB1, LAMB2
99.0LAMA5, LAMB1, LAMB2
10
Show member pathways
9.0LAMA5, LAMB1, LAMB2
118.9LAMA5, LAMB2, NPHS2
12
Show member pathways
8.5COL4A1, LAMA5, LAMB1, LAMB2
13
Show member pathways
8.5COL4A1, LAMA5, LAMB1, LAMB2
14
Show member pathways
8.5COL4A1, LAMA5, LAMB1, LAMB2
15
Show member pathways
8.5COL4A1, LAMA5, LAMB1, LAMB2
168.5COL4A1, LAMA5, LAMB1, LAMB2
178.5COL4A1, LAMA5, LAMB1, LAMB2
188.5COL4A1, LAMA5, LAMB1, LAMB2
198.5COL4A1, LAMA5, LAMB1, LAMB2
20
Show member pathways
8.5COL4A1, LAMA5, LAMB1, LAMB2

GO Terms for genes affiliated with Pierson Syndrome

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Cellular components related to Pierson Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1basal laminaGO:000560510.2LAMA5, LAMB2
2laminin-11 complexGO:004326010.1LAMA5, LAMB2
3laminin-10 complexGO:004325910.0LAMA5, LAMB1
4endoplasmic reticulum lumenGO:00057889.8COL4A1, LAMB1, LAMB2
5synaptic cleftGO:00430839.4LAMA5, LAMB2
6basement membraneGO:00056049.2COL4A1, LAMA5, LAMB1, LAMB2
7extracellular matrixGO:00310129.2COL4A1, LAMA5, LAMB1, LAMB2
8extracellular spaceGO:00056159.1COL4A1, LAMA5, LAMB1, LAMB2
9proteinaceous extracellular matrixGO:00055788.7COL4A1, LAMA5, LAMB1, LAMB2

Biological processes related to Pierson Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1metanephric glomerular visceral epithelial cell developmentGO:007224910.1LAMB2, NPHS2
2neuromuscular junction developmentGO:000752810.1COL4A1, LAMB2
3neuron projection developmentGO:003117510.0LAMB1, LAMB2
4cell adhesionGO:00071559.6LAMA5, LAMB1, LAMB2
5substrate adhesion-dependent cell spreadingGO:00344469.4LAMA5, LAMB1
6extracellular matrix organizationGO:00301989.0COL4A1, LAMA5, LAMB1, LAMB2

Molecular functions related to Pierson Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:000520110.1COL4A1, LAMB1
2integrin bindingGO:000517810.0LAMA5, LAMB2
3structural molecule activityGO:00051989.0LAMA5, LAMB1, LAMB2

Sources for Pierson Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet