PIERSS
MCID: PRS055
MIFTS: 42

Pierson Syndrome (PIERSS)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Pierson Syndrome

MalaCards integrated aliases for Pierson Syndrome:

Name: Pierson Syndrome 57 12 53 59 75 37 29 13 6 44 15 40 73
Microcoria-Congenital Nephrotic Syndrome 57 75
Microcoria-Congenital Nephrosis Syndrome 12 59
Microcoria - Congenital Nephrotic Syndrome 53
Microcoria - Congenital Nephrosis 53
Pierss 75

Characteristics:

Orphanet epidemiological data:

59
pierson syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
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:

32
pierson syndrome:
Onset and clinical course neonatal onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 609049
Disease Ontology 12 DOID:0060852
MeSH 44 C537185
NCIt 50 C128145
Orphanet 59 ORPHA2670
MESH via Orphanet 45 C537185
UMLS via Orphanet 74 C1836876
ICD10 via Orphanet 34 N04.8
MedGen 42 C1836876
KEGG 37 H00576
UMLS 73 C1836876

Summaries for Pierson Syndrome

NIH Rare Diseases : 53 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.

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 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, and related phenotypes are muscular hypotonia and blindness

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.

OMIM : 57 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 : 75 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

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

# Related Disease Score Top Affiliating Genes
1 nephrotic syndrome, type 5, with or without ocular abnormalities 31.6 LAMB2 USP19
2 nephrotic syndrome 30.3 LAMB2 NPHS2
3 microcoria, congenital 11.4
4 alport syndrome, x-linked 10.0
5 familial nephrotic syndrome 10.0
6 hypoparathyroidism, sensorineural deafness, and renal disease 9.8 LAMB2 NPHS2
7 focal segmental glomerulosclerosis 9.7 LAMB2 NPHS2
8 diffuse mesangial sclerosis 9.7 LAMB1 LAMB2 NPHS2

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:

57
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
Neurologic Peripheral Nervous System:
areflexia

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

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

Laboratory Abnormalities:
hypoproteinemia


Clinical features from OMIM:

609049

Human phenotypes related to Pierson Syndrome:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 muscular hypotonia 32 HP:0001252
2 blindness 32 HP:0000618
3 proteinuria 32 HP:0000093
4 edema 32 HP:0000969
5 nephrotic syndrome 32 HP:0000100
6 hypoplasia of the iris 32 HP:0007676
7 areflexia 32 HP:0001284
8 generalized hypotonia 32 HP:0001290
9 stage 5 chronic kidney disease 32 HP:0003774
10 hypoproteinemia 32 HP:0003075
11 posterior lenticonus 32 HP:0011502
12 diffuse mesangial sclerosis 32 HP:0001967
13 microcoria 32 HP:0025492
14 hypoplasia of the ciliary body 32 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 29 LAMB2

Anatomical Context for Pierson Syndrome

MalaCards organs/tissues related to Pierson Syndrome:

41
Eye, Kidney, Bone, Skeletal Muscle

Publications for Pierson Syndrome

Articles related to Pierson Syndrome:

(show all 23)
# Title Authors Year
1
AJKD Atlas of Renal Pathology: Pierson Syndrome. ( 29579420 )
2018
2
Laminin-521 Protein Therapy for Glomerular Basement Membrane and Podocyte Abnormalities in a Model of Pierson Syndrome. ( 29472414 )
2018
3
Skeletal impairment in Pierson syndrome: Is there a role for lamininI^2 in bone physiology? ( 29051055 )
2018
4
Alport syndrome and Pierson syndrome: Diseases of the glomerular basement membrane. ( 29673759 )
2018
5
Ocular findings in a case of Pierson syndrome with a novel mutation in laminin ß2 gene. ( 30120985 )
2018
6
Kidney transplantation in a child with Pierson syndrome. ( 29094445 )
2017
7
A novel LAMB2 gene mutation associated with a severe phenotype in a neonate with Pierson syndrome. ( 27130041 )
2016
8
Pierson Syndrome - A Rare Cause of Congenital Nephrotic Syndrome. ( 24944146 )
2014
9
A novel mutation of laminin I^-2 gene in Pierson syndrome manifested with nephrotic syndrome in the early neonatal period. ( 24032283 )
2013
10
Next generation sequencing to dissect hereditary nephrotic syndrome in mice identifies a hypomorphic mutation in Lamb2 and models Pierson Syndrome. ( 24293254 )
2013
11
First Japanese case of Pierson syndrome with mutations in LAMB2. ( 23679161 )
2013
12
Pierson syndrome in an adolescent girl with nephrotic range proteinuria but a normal GFR. ( 22228401 )
2012
13
Forced expression of laminin beta1 in podocytes prevents nephrotic syndrome in mice lacking laminin beta2, a model for Pierson syndrome. ( 21876163 )
2011
14
A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome. ( 21236492 )
2011
15
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
16
The first Chinese Pierson syndrome with novel mutations in LAMB2. ( 19861315 )
2010
17
Variable phenotype of Pierson syndrome. ( 18278520 )
2008
18
Ophthalmological aspects of Pierson syndrome. ( 18672223 )
2008
19
A milder variant of Pierson syndrome. ( 17943323 )
2008
20
Prenatal findings in four consecutive pregnancies with fetal Pierson syndrome, a newly defined congenital nephrosis syndrome. ( 16450351 )
2006
21
Transgenic isolation of skeletal muscle and kidney defects in laminin beta2 mutant mice: implications for Pierson syndrome. ( 16452099 )
2006
22
Pierson syndrome: a novel cause of congenital nephrotic syndrome. ( 16864643 )
2006
23
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:

75
# 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 (show top 50) (show all 262)
# Gene Variation Type Significance SNP ID Assembly Location
1 LAMB2 NM_002292.3(LAMB2): c.1122T> A (p.Cys374Ter) single nucleotide variant Pathogenic rs121912490 GRCh38 Chromosome 3, 49130334: 49130334
2 LAMB2 LAMB2, 1-BP DEL, 3015G deletion Pathogenic
3 LAMB2 NM_002292.3(LAMB2): c.736C> T (p.Arg246Trp) single nucleotide variant Pathogenic rs121912488 GRCh37 Chromosome 3, 49168562: 49168562
4 LAMB2 NM_002292.3(LAMB2): c.736C> T (p.Arg246Trp) single nucleotide variant Pathogenic rs121912488 GRCh38 Chromosome 3, 49131129: 49131129
5 LAMB2 LAMB2, 1-BP INS, 5259A insertion Pathogenic
6 LAMB2 NM_002292.3(LAMB2): c.2067C> G (p.Tyr689Ter) single nucleotide variant Pathogenic rs121912489 GRCh37 Chromosome 3, 49163882: 49163882
7 LAMB2 NM_002292.3(LAMB2): c.2067C> G (p.Tyr689Ter) single nucleotide variant Pathogenic rs121912489 GRCh38 Chromosome 3, 49126449: 49126449
8 LAMB2 NM_002292.3(LAMB2): c.1122T> A (p.Cys374Ter) single nucleotide variant Pathogenic rs121912490 GRCh37 Chromosome 3, 49167767: 49167767
9 LAMB2 NM_002292.3(LAMB2): c.4140C> A (p.Asn1380Lys) single nucleotide variant Uncertain significance rs267607207 GRCh37 Chromosome 3, 49160649: 49160649
10 LAMB2 NM_002292.3(LAMB2): c.4140C> A (p.Asn1380Lys) single nucleotide variant Uncertain significance rs267607207 GRCh38 Chromosome 3, 49123216: 49123216
11 LAMB2 NM_002292.3(LAMB2): c.2890C> T (p.Arg964Ter) single nucleotide variant Pathogenic rs730880125 GRCh38 Chromosome 3, 49124920: 49124920
12 LAMB2 NM_002292.3(LAMB2): c.2890C> T (p.Arg964Ter) single nucleotide variant Pathogenic rs730880125 GRCh37 Chromosome 3, 49162353: 49162353
13 LAMB2 NM_002292.3(LAMB2): c.5293G> A (p.Ala1765Thr) single nucleotide variant Benign/Likely benign rs74951356 GRCh38 Chromosome 3, 49121330: 49121330
14 LAMB2 NM_002292.3(LAMB2): c.5293G> A (p.Ala1765Thr) single nucleotide variant Benign/Likely benign rs74951356 GRCh37 Chromosome 3, 49158763: 49158763
15 LAMB2 NM_002292.3(LAMB2): c.4878G> A (p.Arg1626=) single nucleotide variant Conflicting interpretations of pathogenicity rs148648480 GRCh37 Chromosome 3, 49159422: 49159422
16 LAMB2 NM_002292.3(LAMB2): c.4878G> A (p.Arg1626=) single nucleotide variant Conflicting interpretations of pathogenicity rs148648480 GRCh38 Chromosome 3, 49121989: 49121989
17 LAMB2 NM_002292.3(LAMB2): c.4774C> T (p.Arg1592Trp) single nucleotide variant Benign/Likely benign rs61729458 GRCh38 Chromosome 3, 49122170: 49122170
18 LAMB2 NM_002292.3(LAMB2): c.4774C> T (p.Arg1592Trp) single nucleotide variant Benign/Likely benign rs61729458 GRCh37 Chromosome 3, 49159603: 49159603
19 LAMB2 NM_002292.3(LAMB2): c.4034G> A (p.Arg1345His) single nucleotide variant Conflicting interpretations of pathogenicity rs75073433 GRCh37 Chromosome 3, 49160755: 49160755
20 LAMB2 NM_002292.3(LAMB2): c.4034G> A (p.Arg1345His) single nucleotide variant Conflicting interpretations of pathogenicity rs75073433 GRCh38 Chromosome 3, 49123322: 49123322
21 LAMB2 NM_002292.3(LAMB2): c.3387A> G (p.Gln1129=) single nucleotide variant Benign/Likely benign rs34290943 GRCh37 Chromosome 3, 49161660: 49161660
22 LAMB2 NM_002292.3(LAMB2): c.3387A> G (p.Gln1129=) single nucleotide variant Benign/Likely benign rs34290943 GRCh38 Chromosome 3, 49124227: 49124227
23 LAMB2 NM_002292.3(LAMB2): c.2959G> A (p.Glu987Lys) single nucleotide variant Benign/Likely benign rs34759087 GRCh37 Chromosome 3, 49162284: 49162284
24 LAMB2 NM_002292.3(LAMB2): c.2959G> A (p.Glu987Lys) single nucleotide variant Benign/Likely benign rs34759087 GRCh38 Chromosome 3, 49124851: 49124851
25 LAMB2 NM_002292.3(LAMB2): c.2740G> A (p.Gly914Arg) single nucleotide variant Benign/Likely benign rs35713889 GRCh38 Chromosome 3, 49125150: 49125150
26 LAMB2 NM_002292.3(LAMB2): c.2740G> A (p.Gly914Arg) single nucleotide variant Benign/Likely benign rs35713889 GRCh37 Chromosome 3, 49162583: 49162583
27 LAMB2 NM_002292.3(LAMB2): c.2673C> T (p.Gly891=) single nucleotide variant Benign rs144092322 GRCh37 Chromosome 3, 49162733: 49162733
28 LAMB2 NM_002292.3(LAMB2): c.2673C> T (p.Gly891=) single nucleotide variant Benign rs144092322 GRCh38 Chromosome 3, 49125300: 49125300
29 LAMB2 NM_002292.3(LAMB2): c.2307C> T (p.Leu769=) single nucleotide variant Benign/Likely benign rs147076626 GRCh37 Chromosome 3, 49163437: 49163437
30 LAMB2 NM_002292.3(LAMB2): c.2307C> T (p.Leu769=) single nucleotide variant Benign/Likely benign rs147076626 GRCh38 Chromosome 3, 49126004: 49126004
31 LAMB2 NM_002292.3(LAMB2): c.1764C> T (p.Pro588=) single nucleotide variant Benign/Likely benign rs33942096 GRCh38 Chromosome 3, 49128787: 49128787
32 LAMB2 NM_002292.3(LAMB2): c.1764C> T (p.Pro588=) single nucleotide variant Benign/Likely benign rs33942096 GRCh37 Chromosome 3, 49166220: 49166220
33 LAMB2 NM_002292.3(LAMB2): c.1724G> A (p.Arg575Gln) single nucleotide variant Benign rs61729152 GRCh37 Chromosome 3, 49166460: 49166460
34 LAMB2 NM_002292.3(LAMB2): c.1724G> A (p.Arg575Gln) single nucleotide variant Benign rs61729152 GRCh38 Chromosome 3, 49129027: 49129027
35 LAMB2 NM_002292.3(LAMB2): c.1206G> A (p.Arg402=) single nucleotide variant Conflicting interpretations of pathogenicity rs201999373 GRCh38 Chromosome 3, 49130250: 49130250
36 LAMB2 NM_002292.3(LAMB2): c.1206G> A (p.Arg402=) single nucleotide variant Conflicting interpretations of pathogenicity rs201999373 GRCh37 Chromosome 3, 49167683: 49167683
37 LAMB2 NM_002292.3(LAMB2): c.1193C> T (p.Thr398Ile) single nucleotide variant Benign/Likely benign rs77500937 GRCh37 Chromosome 3, 49167696: 49167696
38 LAMB2 NM_002292.3(LAMB2): c.1193C> T (p.Thr398Ile) single nucleotide variant Benign/Likely benign rs77500937 GRCh38 Chromosome 3, 49130263: 49130263
39 LAMB2 NM_002292.3(LAMB2): c.306C> T (p.Asn102=) single nucleotide variant Benign/Likely benign rs79448908 GRCh37 Chromosome 3, 49169782: 49169782
40 LAMB2 NM_002292.3(LAMB2): c.306C> T (p.Asn102=) single nucleotide variant Benign/Likely benign rs79448908 GRCh38 Chromosome 3, 49132349: 49132349
41 LAMB2 NM_002292.3(LAMB2): c.*92A> G single nucleotide variant Uncertain significance rs886058670 GRCh38 Chromosome 3, 49121134: 49121134
42 LAMB2 NM_002292.3(LAMB2): c.*92A> G single nucleotide variant Uncertain significance rs886058670 GRCh37 Chromosome 3, 49158567: 49158567
43 LAMB2 NM_002292.3(LAMB2): c.5286T> C (p.Asn1762=) single nucleotide variant Uncertain significance rs781092208 GRCh38 Chromosome 3, 49121337: 49121337
44 LAMB2 NM_002292.3(LAMB2): c.5286T> C (p.Asn1762=) single nucleotide variant Uncertain significance rs781092208 GRCh37 Chromosome 3, 49158770: 49158770
45 LAMB2 NM_002292.3(LAMB2): c.5109C> T (p.Arg1703=) single nucleotide variant Conflicting interpretations of pathogenicity rs151292828 GRCh38 Chromosome 3, 49121584: 49121584
46 LAMB2 NM_002292.3(LAMB2): c.5109C> T (p.Arg1703=) single nucleotide variant Conflicting interpretations of pathogenicity rs151292828 GRCh37 Chromosome 3, 49159017: 49159017
47 LAMB2 NM_002292.3(LAMB2): c.5039C> T (p.Ala1680Val) single nucleotide variant Uncertain significance rs141473691 GRCh38 Chromosome 3, 49121745: 49121745
48 LAMB2 NM_002292.3(LAMB2): c.5039C> T (p.Ala1680Val) single nucleotide variant Uncertain significance rs141473691 GRCh37 Chromosome 3, 49159178: 49159178
49 LAMB2 NM_002292.3(LAMB2): c.5021G> A (p.Arg1674Gln) single nucleotide variant Uncertain significance rs764128779 GRCh38 Chromosome 3, 49121763: 49121763
50 LAMB2 NM_002292.3(LAMB2): c.5021G> A (p.Arg1674Gln) single nucleotide variant Uncertain significance rs764128779 GRCh37 Chromosome 3, 49159196: 49159196

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:

37
# Name Kegg Source Accession
1 Focal adhesion hsa04510
2 ECM-receptor interaction hsa04512

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 9.46 LAMB1 LAMB2 NID1 NPHS2
2 collagen-containing extracellular matrix GO:0062023 9.13 LAMB1 LAMB2 NID1
3 basement membrane GO:0005604 8.8 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 9.33 LAMB1 LAMB2 NID1
2 neuron projection development GO:0031175 9.26 LAMB1 LAMB2
3 extracellular matrix organization GO:0030198 9.13 LAMB1 LAMB2 NID1
4 metanephric glomerular visceral epithelial cell development GO:0072249 8.62 LAMB2 NPHS2

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.8 LAMB1 LAMB2 NID1

Sources for Pierson Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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