MCID: PRS055
MIFTS: 40

Pierson Syndrome malady

Categories: Genetic diseases, Rare diseases, Nephrological diseases

Aliases & Classifications for Pierson Syndrome

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Sources:
12diseasecard, 24GeneTests, 27GTR, 31ICD10 via Orphanet, 37MedGen, 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 48 24 54 70 27 12 68
Microcoria-Congenital Nephrotic Syndrome 24 70
Microcoria - Congenital Nephrotic Syndrome 48
 
Microcoria-Congenital Nephrosis Syndrome 54
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
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 microcoria, congenital, and has symptoms including proteinuria, nephrotic syndrome and cataract. An important gene associated with Pierson Syndrome is LAMB2 (Laminin Subunit Beta 2), and among its related pathways are Pathways in cancer and PI3K-Akt signaling pathway. Affiliated tissues include eye, kidney and ovary.

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

idRelated DiseaseScoreTop Affiliating Genes
1nephrotic syndrome, type 5, with or without ocular abnormalities10.8
2microcoria, congenital9.8
3hereditary nephrotic syndromes9.8
4unna-thost palmoplantar keratoderma9.3LAMB1, LAMB2

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 20)
id Description HPO Frequency HPO Source Accession
1 proteinuria64 hallmark (90%) HP:0000093
2 nephrotic syndrome64 hallmark (90%) HP:0000100
3 cataract64 hallmark (90%) HP:0000518
4 nystagmus64 hallmark (90%) HP:0000639
5 hematuria64 hallmark (90%) HP:0000790
6 hypertension64 hallmark (90%) HP:0000822
7 muscular hypotonia64 hallmark (90%) HP:0001252
8 eeg abnormality64 hallmark (90%) HP:0002353
9 hemiplegia/hemiparesis64 hallmark (90%) HP:0004374
10 abnormality of movement64 hallmark (90%) HP:0100022
11 hypoplasia of penis64 typical (50%) HP:0008736
12 blindness64 HP:0000618
13 edema64 HP:0000969
14 areflexia64 HP:0001284
15 diffuse mesangial sclerosis64 HP:0001967
16 hypoproteinemia64 HP:0003075
17 stage 5 chronic kidney disease64 HP:0003774
18 hypoplasia of the iris64 HP:0007676
19 hypoplasia of the ciliary body64 HP:0007774
20 posterior lenticonus64 HP:0011502

Drugs & Therapeutics for Pierson Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Lifestyle Intervention for Polycystic Ovary Syndrome: Pulse-Based Diet and ExerciseRecruitingNCT01288638
2Noninvasive Screening for Affected Pregnancies: Assay Development & Optimization in Affected PregnanciesRecruitingNCT01052688

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 Syndrome27 24 LAMB2

Anatomical Context for Pierson Syndrome

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MalaCards organs/tissues related to Pierson Syndrome:

36
Eye, Kidney, Ovary, 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
A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome. (21236492)
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
Forced expression of laminin beta1 in podocytes prevents nephrotic syndrome in mice lacking laminin beta2, a model for Pierson syndrome. (21876163)
2011
10
The first Chinese Pierson syndrome with novel mutations in LAMB2. (19861315)
2010
11
Variable phenotype of Pierson syndrome. (18278520)
2008
12
Ophthalmological aspects of Pierson syndrome. (18672223)
2008
13
A milder variant of Pierson syndrome. (17943323)
2008
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

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, 3015GdeletionPathogenicChr na, -1: -1
2LAMB2NM_002292.3(LAMB2): c.736C> T (p.Arg246Trp)SNVPathogenicrs121912488GRCh37Chr 3, 49168562: 49168562
3LAMB2LAMB2, 1-BP INS, 5259AinsertionPathogenicChr na, -1: -1
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)SNVPathogenicrs730880125GRCh38Chr 3, 49124920: 49124920

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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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
1basement membraneGO:00056049.8LAMB1, LAMB2
2extracellular matrixGO:00310129.1LAMB1, LAMB2

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

idNameGO IDScoreTop Affiliating Genes
1cell adhesionGO:00071559.8LAMB1, LAMB2
2extracellular matrix organizationGO:00301989.7LAMB1, LAMB2
3neuron projection developmentGO:00311759.1LAMB1, LAMB2

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

idNameGO IDScoreTop Affiliating Genes
1structural molecule activityGO:00051989.1LAMB1, 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