MCID: PRS055
MIFTS: 39

Pierson Syndrome malady

Genetic diseases, Rare diseases, Nephrological diseases categories

Aliases & Classifications for Pierson Syndrome

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 51Orphanet, 24GTR, 65UMLS, 67UniProtKB/Swiss-Prot, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Pierson Syndrome:

Name: Pierson Syndrome 49 11 45 22 51 24 65 67
Microcoria - Congenital Nephrotic Syndrome 45 22
Microcoria - Congenital Nephrosis 45 51
 
Microcoria-Congenital Nephrotic Syndrome 67
Pierss 67


Classifications:

Orphanet: 51 
Rare renal diseases


Characteristics (Orphanet epidemiological data):

51
pierson syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

OMIM49 609049
Orphanet51 2670
UMLS via Orphanet66 C1836876
ICD10 via Orphanet28 N04.8
MESH via Orphanet37 C537185
MedGen34 C1836876

Summaries for Pierson Syndrome

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NIH Rare Diseases:45 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 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, Beta 2 (Laminin S)), and among its related pathways are Pathways in cancer and Degradation of the extracellular matrix. Affiliated tissues include eye, kidney and skeletal muscle.

OMIM:49 Pierson syndrome is an autosomal recessive disorder comprising congenital nephrotic syndrome with diffuse mesangial... (609049) more...

UniProtKB/Swiss-Prot:67 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 syndrome10.5
2nephrotic syndrome, type 5, with or without ocular abnormalities10.2
3microcoria, congenital10.2
4hereditary nephrotic syndromes10.2
5diffuse neonatal hemangiomatosis9.8LAMB1, LAMB2
6pierson syndrome9.7LAMB1, 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:

 51 (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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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 Syndrome22 24 LAMB2

Anatomical Context for Pierson Syndrome

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MalaCards organs/tissues related to Pierson Syndrome:

33
Eye, Kidney, Skeletal muscle, Ovary

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 16)
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
Variable phenotype of Pierson syndrome. (18278520)
2008
11
A milder variant of Pierson syndrome. (17943323)
2008
12
Ophthalmological aspects of Pierson syndrome. (18672223)
2008
13
Pierson syndrome: a novel cause of congenital nephrotic syndrome. (16864643)
2006
14
Transgenic isolation of skeletal muscle and kidney defects in laminin beta2 mutant mice: implications for Pierson syndrome. (16452099)
2006
15
Prenatal findings in four consecutive pregnancies with fetal Pierson syndrome, a newly defined congenital nephrosis syndrome. (16450351)
2006
16
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:

67
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:

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 variantPathogenicrs730880125GRCh37Chr 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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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
1laminin complexGO:00432569.6LAMB1, LAMB2
2basal laminaGO:00056059.6LAMB1, LAMB2
3extracellular matrixGO:00310129.1LAMB1, LAMB2
4basement membraneGO:00056048.8LAMB1, LAMB2

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

idNameGO IDScoreTop Affiliating Genes
1neuron projection developmentGO:00311759.4LAMB1, LAMB2
2cell adhesionGO:00071559.4LAMB1, LAMB2
3extracellular matrix organizationGO:00301989.1LAMB1, LAMB2
4axon guidanceGO:00074118.8LAMB1, LAMB2

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

idNameGO IDScoreTop Affiliating Genes
1integrin bindingGO:00051789.1LAMB1, LAMB2
2structural molecule activityGO:00051988.8LAMB1, LAMB2

Sources for Pierson Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet