MCID: PRS055
MIFTS: 43

Pierson Syndrome

Categories: Genetic diseases, Rare diseases, Nephrological diseases

Aliases & Classifications for Pierson Syndrome

MalaCards integrated aliases for Pierson Syndrome:

Name: Pierson Syndrome 53 12 49 55 71 36 28 13 41 14 69
Microcoria-Congenital Nephrotic Syndrome 53 71
Microcoria-Congenital Nephrosis Syndrome 12 55
Microcoria - Congenital Nephrotic Syndrome 49
Microcoria - Congenital Nephrosis 49
Pierss 71

Characteristics:

Orphanet epidemiological data:

55
pierson syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
neonatal onset of nephrotic syndrome
death usually within first weeks of life
homozygosity or compound heterozygosity for lamb2 mutations conferring complete loss of function (e.g., truncating mutations) appear to be associated with pierson syndrome
nontruncating (missense) lamb2 mutations may display variable phenotypes ranging from a milder variant of pierson syndrome to isolated congenital nephrotic syndrome


HPO:

31
pierson syndrome:
Onset and clinical course neonatal onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 55  
Rare renal diseases


External Ids:

OMIM 53 609049
Disease Ontology 12 DOID:0060852
ICD10 32 N04.8
MeSH 41 C537185
Orphanet 55 ORPHA2670
MESH via Orphanet 42 C537185
UMLS via Orphanet 70 C1836876
ICD10 via Orphanet 33 N04.8
MedGen 39 C1836876
KEGG 36 H00576
UMLS 69 C1836876

Summaries for Pierson Syndrome

NIH Rare Diseases : 49 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 edema, blindness and proteinuria. An important gene associated with Pierson Syndrome is LAMB2 (Laminin Subunit Beta 2), and among its related pathways/superpathways are Focal adhesion and ECM-receptor interaction. Affiliated tissues include eye, kidney and bone.

OMIM : 53 Pierson syndrome is an autosomal recessive disorder comprising congenital nephrotic syndrome with diffuse mesangial sclerosis and distinct ocular abnormalities, including microcoria and hypoplasia of the ciliary and pupillary muscles, as well as other anomalies. Many patients die early, and those who survive tend to show neurodevelopmental delay and visual loss (summary by Zenker et al., 2004). Mutations in the LAMB2 gene also cause nephrotic syndrome type 5 with or without mild ocular anomalies (NPHS5; 614199). (609049)

UniProtKB/Swiss-Prot : 71 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.

Disease Ontology : 12 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.

Related Diseases for Pierson Syndrome

Graphical network of the top 20 diseases related to Pierson Syndrome:



Diseases related to Pierson Syndrome

Symptoms & Phenotypes for Pierson Syndrome

Symptoms via clinical synopsis from OMIM:

53
Muscle Soft Tissue:
edema
hypotonia
congenital myasthenic syndrome (reported in 1 patient who survived to age 20 years)

Neurologic Central Nervous System:
blindness
hypotonia
psychomotor retardation in those that survive
normal cognition (reported in 1 patient who survived to age 20 years)

Neurologic Peripheral Nervous System:
areflexia

Head And Neck Eyes:
blindness
hypoplasia of the iris
nonreactive, fixed narrowing of the pupil ('microcoria')
aplasia or atrophy of the dilatator pupillae muscle
hypoplasia of the ciliary body
more
Genitourinary Kidneys:
proteinuria
nephrotic syndrome
early-onset end-stage renal disease
death in first weeks of life without dialysis
renal biopsy shows diffuse mesangial sclerosis
more
Laboratory Abnormalities:
hypoproteinemia


Clinical features from OMIM:

609049

Human phenotypes related to Pierson Syndrome:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 edema 31 HP:0000969
2 blindness 31 HP:0000618
3 proteinuria 31 HP:0000093
4 nephrotic syndrome 31 HP:0000100
5 hypoplasia of the iris 31 HP:0007676
6 areflexia 31 HP:0001284
7 generalized hypotonia 31 HP:0001290
8 stage 5 chronic kidney disease 31 HP:0003774
9 hypoproteinemia 31 HP:0003075
10 posterior lenticonus 31 HP:0011502
11 diffuse mesangial sclerosis 31 HP:0001967
12 hypoplasia of the ciliary body 31 HP:0007774

UMLS symptoms related to Pierson Syndrome:


edema

Drugs & Therapeutics for Pierson Syndrome

Search Clinical Trials , NIH Clinical Center for Pierson Syndrome

Cochrane evidence based reviews: pierson syndrome

Genetic Tests for Pierson Syndrome

Genetic tests related to Pierson Syndrome:

# Genetic test Affiliating Genes
1 Pierson Syndrome 28 LAMB2

Anatomical Context for Pierson Syndrome

MalaCards organs/tissues related to Pierson Syndrome:

38
Eye, Kidney, Bone, Skeletal Muscle

Publications for Pierson Syndrome

Articles related to Pierson Syndrome:

(show all 19)
# Title Authors Year
1
Skeletal impairment in Pierson syndrome: Is there a role for lamininI^2 in bone physiology? ( 29051055 )
2018
2
Kidney transplantation in a child with Pierson syndrome. ( 29094445 )
2017
3
A novel LAMB2 gene mutation associated with a severe phenotype in a neonate with Pierson syndrome. ( 27130041 )
2016
4
Pierson Syndrome - A Rare Cause of Congenital Nephrotic Syndrome. ( 24944146 )
2014
5
A novel mutation of laminin I^-2 gene in Pierson syndrome manifested with nephrotic syndrome in the early neonatal period. ( 24032283 )
2013
6
First Japanese case of Pierson syndrome with mutations in LAMB2. ( 23679161 )
2013
7
Next generation sequencing to dissect hereditary nephrotic syndrome in mice identifies a hypomorphic mutation in Lamb2 and models Pierson Syndrome. ( 24293254 )
2013
8
Pierson syndrome in an adolescent girl with nephrotic range proteinuria but a normal GFR. ( 22228401 )
2012
9
Forced expression of laminin beta1 in podocytes prevents nephrotic syndrome in mice lacking laminin beta2, a model for Pierson syndrome. ( 21876163 )
2011
10
A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome. ( 21236492 )
2011
11
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
12
The first Chinese Pierson syndrome with novel mutations in LAMB2. ( 19861315 )
2010
13
Ophthalmological aspects of Pierson syndrome. ( 18672223 )
2008
14
A milder variant of Pierson syndrome. ( 17943323 )
2008
15
Variable phenotype of Pierson syndrome. ( 18278520 )
2008
16
Pierson syndrome: a novel cause of congenital nephrotic syndrome. ( 16864643 )
2006
17
Transgenic isolation of skeletal muscle and kidney defects in laminin beta2 mutant mice: implications for Pierson syndrome. ( 16452099 )
2006
18
Prenatal findings in four consecutive pregnancies with fetal Pierson syndrome, a newly defined congenital nephrosis syndrome. ( 16450351 )
2006
19
Demonstration of two novel LAMB2 mutations in the original Pierson syndrome family reported 42 years ago. ( 16097004 )
2005

Variations for Pierson Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Pierson Syndrome:

71
# Symbol AA change Variation ID SNP ID
1 LAMB2 p.Arg246Gln VAR_031968 rs121912491
2 LAMB2 p.Arg246Trp VAR_031969 rs121912488
3 LAMB2 p.Cys321Arg VAR_031970 rs121912492
4 LAMB2 p.Asn1380Lys VAR_031972 rs267607207
5 LAMB2 p.Leu1393Phe VAR_031973 rs267607208

ClinVar genetic disease variations for Pierson Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LAMB2 LAMB2, 1-BP DEL, 3015G deletion Pathogenic
2 LAMB2 NM_002292.3(LAMB2): c.736C> T (p.Arg246Trp) single nucleotide variant Pathogenic rs121912488 GRCh37 Chromosome 3, 49168562: 49168562
3 LAMB2 LAMB2, 1-BP INS, 5259A insertion Pathogenic
4 LAMB2 NM_002292.3(LAMB2): c.2067C> G (p.Tyr689Ter) single nucleotide variant Pathogenic rs121912489 GRCh37 Chromosome 3, 49163882: 49163882
5 LAMB2 NM_002292.3(LAMB2): c.1122T> A (p.Cys374Ter) single nucleotide variant Pathogenic rs121912490 GRCh37 Chromosome 3, 49167767: 49167767
6 LAMB2 NM_002292.3(LAMB2): c.2890C> T (p.Arg964Ter) single nucleotide variant Pathogenic rs730880125 GRCh38 Chromosome 3, 49124920: 49124920
7 LAMB2 NM_002292.3(LAMB2): c.4773dup (p.Arg1592Alafs) duplication Pathogenic GRCh37 Chromosome 3, 49159604: 49159604

Expression for Pierson Syndrome

Search GEO for disease gene expression data for Pierson Syndrome.

Pathways for Pierson Syndrome

Pathways related to Pierson Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Focal adhesion hsa04510
2 ECM-receptor interaction hsa04512

Pathways related to Pierson Syndrome according to GeneCards Suite gene sharing:

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.64 LAMA5 LAMB1 LAMB2
2
Show member pathways
12.57 LAMA5 LAMB1 LAMB2
3
Show member pathways
12.5 LAMA5 LAMB1 LAMB2
4 12.44 LAMA5 LAMB1 LAMB2
5
Show member pathways
12.4 LAMA5 LAMB1 LAMB2
6
Show member pathways
12.39 LAMA5 LAMB1 LAMB2 NID1
7
Show member pathways
11.93 LAMA5 LAMB1 LAMB2
8
Show member pathways
11.81 LAMA5 LAMB1 LAMB2
9
Show member pathways
11.79 LAMA5 LAMB1 LAMB2
10
Show member pathways
11.61 LAMA5 LAMB1 LAMB2 NID1
11 11.56 LAMA5 LAMB1 LAMB2
12 11.51 LAMA5 LAMB1 LAMB2
13 11.37 LAMA5 LAMB2 NPHS2
14 11.28 LAMB1 NID1
15
Show member pathways
11.26 LAMA5 LAMB1 LAMB2
16 11.09 LAMA5 LAMB1 LAMB2
17 10.63 LAMA5 LAMB1 LAMB2
18 10.32 LAMA5 LAMB1 LAMB2

GO Terms for Pierson Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.83 LAMA5 LAMB1 LAMB2 NID1 NPHS2
2 extracellular space GO:0005615 9.76 LAMA5 LAMB1 LAMB2 NID1
3 extracellular matrix GO:0031012 9.67 LAMA5 LAMB1 LAMB2 NID1
4 proteinaceous extracellular matrix GO:0005578 9.62 LAMA5 LAMB1 LAMB2 NID1
5 synaptic cleft GO:0043083 9.4 LAMA5 LAMB2
6 laminin-10 complex GO:0043259 9.26 LAMA5 LAMB1
7 laminin-11 complex GO:0043260 9.16 LAMA5 LAMB2
8 basal lamina GO:0005605 9.13 LAMA5 LAMB2 NID1
9 basement membrane GO:0005604 8.92 LAMA5 LAMB1 LAMB2 NID1

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

# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.46 LAMA5 LAMB1 LAMB2 NID1
2 neuron projection development GO:0031175 9.32 LAMB1 LAMB2
3 substrate adhesion-dependent cell spreading GO:0034446 9.26 LAMA5 LAMB1
4 metanephric glomerular visceral epithelial cell development GO:0072249 8.96 LAMB2 NPHS2
5 extracellular matrix organization GO:0030198 8.92 LAMA5 LAMB1 LAMB2 NID1

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

# Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 8.96 LAMA5 LAMB2
2 structural molecule activity GO:0005198 8.8 LAMA5 LAMB1 LAMB2

Sources for Pierson Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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