MCID: PRS055
MIFTS: 40

Pierson Syndrome malady

Categories: Genetic diseases, Rare diseases, Nephrological diseases

Aliases & Classifications for Pierson Syndrome

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Sources:
50OMIM, 46NIH Rare Diseases, 23GeneTests, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Pierson Syndrome:

Name: Pierson Syndrome 50 46 23 52 68 25 12 66
Microcoria-Congenital Nephrotic Syndrome 23 68
Microcoria - Congenital Nephrotic Syndrome 46
 
Microcoria-Congenital Nephrosis Syndrome 52
Microcoria - Congenital Nephrosis 46
Pierss 68

Characteristics:

Orphanet epidemiological data:

52
pierson syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

62
pierson syndrome:
Inheritance: autosomal recessive inheritance
Onset and clinical course: neonatal onset


Classifications:

Orphanet: 52 
Rare renal diseases


External Ids:

OMIM50 609049
Orphanet52 ORPHA2670
ICD10 via Orphanet29 N04.8
MESH via Orphanet38 C537185
UMLS via Orphanet67 C1836876
MedGen35 C1836876

Summaries for Pierson Syndrome

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NIH Rare Diseases:46 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 and nephrotic syndrome, type 5, with or without ocular abnormalities, 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.

UniProtKB/Swiss-Prot:68 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.

OMIM:50 Pierson syndrome is an autosomal recessive disorder comprising congenital nephrotic syndrome with diffuse mesangial... (609049) more...

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 syndrome10.3
2nephrotic syndrome, type 5, with or without ocular abnormalities10.0
3microcoria, congenital9.9
4hereditary nephrotic syndromes9.9
5unna-thost palmoplantar keratoderma9.5LAMB1, LAMB2
6pierson syndrome9.2LAMB1, 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

HPO human phenotypes related to Pierson Syndrome:

(show all 23)
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 proteinuria HP:0000093
13 nephrotic syndrome HP:0000100
14 blindness HP:0000618
15 edema HP:0000969
16 muscular hypotonia HP:0001252
17 areflexia HP:0001284
18 diffuse mesangial sclerosis HP:0001967
19 hypoproteinemia HP:0003075
20 stage 5 chronic kidney disease HP:0003774
21 hypoplasia of the iris HP:0007676
22 hypoplasia of the ciliary body HP:0007774
23 posterior lenticonus 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 Syndrome25 23 LAMB2

Anatomical Context for Pierson Syndrome

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MalaCards organs/tissues related to Pierson Syndrome:

34
Eye, Kidney, Ovary, 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 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:

68
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)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
6LAMB2NM_002292.3(LAMB2): c.2890C> T (p.Arg964Ter)single nucleotide variantPathogenicrs730880125GRCh38Chr 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:00056049.3LAMB1, LAMB2
2extracellular matrixGO:00310129.1LAMB1, LAMB2

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix organizationGO:00301989.2LAMB1, LAMB2
2neuron projection developmentGO:00311759.2LAMB1, LAMB2
3cell adhesionGO:00071559.1LAMB1, 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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet