MCID: PRS055
MIFTS: 50

Pierson Syndrome

Categories: Genetic diseases, Rare diseases, Nephrological diseases

Aliases & Classifications for Pierson Syndrome

MalaCards integrated aliases for Pierson Syndrome:

Name: Pierson Syndrome 54 12 50 24 56 71 29 13 42 14 69
Microcoria-Congenital Nephrosis Syndrome 12 56
Microcoria-Congenital Nephrotic Syndrome 24 71
Microcoria - Congenital Nephrotic Syndrome 50
Microcoria - Congenital Nephrosis 50
Pierss 71

Characteristics:

Orphanet epidemiological data:

56
pierson syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
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:

Orphanet: 56  
Rare renal diseases


External Ids:

OMIM 54 609049
Disease Ontology 12 DOID:0060852
ICD10 33 N04.8
MeSH 42 C537185
Orphanet 56 ORPHA2670
MESH via Orphanet 43 C537185
UMLS via Orphanet 70 C1836876
ICD10 via Orphanet 34 N04.8
MedGen 40 C1836876
UMLS 69 C1836876

Summaries for Pierson Syndrome

NIH Rare Diseases : 50 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 nephrosis syndrome, is related to nephrotic syndrome, type 5, with or without ocular abnormalities and nephrotic syndrome, and has symptoms including proteinuria, blindness and areflexia. An important gene associated with Pierson Syndrome is LAMB2 (Laminin Subunit Beta 2), and among its related pathways/superpathways are Integrin Pathway and Phospholipase-C Pathway. The drugs Apixaban and Aspirin have been mentioned in the context of this disorder. Affiliated tissues include eye, kidney and heart, and related phenotypes are mortality/aging and renal/urinary system

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.

OMIM : 54
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)

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:

54

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

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

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

Head And Neck- Eyes:
blindness
nonreactive, fixed narrowing of the pupil ('microcoria')
aplasia or atrophy of the dilatator pupillae muscle
hypoplasia of the iris
hypoplasia of the ciliary body
more
Laboratory- Abnormalities:
hypoproteinemia


Clinical features from OMIM:

609049

Human phenotypes related to Pierson Syndrome:

32 (show all 12)
id Description HPO Frequency HPO Source Accession
1 proteinuria 32 HP:0000093
2 blindness 32 HP:0000618
3 areflexia 32 HP:0001284
4 nephrotic syndrome 32 HP:0000100
5 edema 32 HP:0000969
6 hypoproteinemia 32 HP:0003075
7 muscular hypotonia 32 HP:0001252
8 hypoplasia of the iris 32 HP:0007676
9 hypoplasia of the ciliary body 32 HP:0007774
10 diffuse mesangial sclerosis 32 HP:0001967
11 stage 5 chronic kidney disease 32 HP:0003774
12 posterior lenticonus 32 HP:0011502

UMLS symptoms related to Pierson Syndrome:


edema

MGI Mouse Phenotypes related to Pierson Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.43 ERC1 LAMA5 LAMB1 LAMB2 NPHS2 COL4A1
2 renal/urinary system MP:0005367 8.92 COL4A1 LAMA5 LAMB2 NPHS2

Drugs & Therapeutics for Pierson Syndrome

Drugs for Pierson Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 31)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Apixaban Approved Phase 4 503612-47-3 10182969
2
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
3
Menadione Approved, Nutraceutical Phase 4 58-27-5 4055
4
Phytonadione Approved, Nutraceutical Phase 4 84-80-0 4812 5284607
5 Analgesics Phase 4
6 Analgesics, Non-Narcotic Phase 4
7 Anticoagulants Phase 4
8 Antifibrinolytic Agents Phase 4
9 Anti-Inflammatory Agents Phase 4
10 Anti-Inflammatory Agents, Non-Steroidal Phase 4
11 Antipyretics Phase 4
12 Antirheumatic Agents Phase 4
13 Antithrombin III Phase 4
14 Antithrombins Phase 4
15 Coagulants Phase 4
16 Cyclooxygenase Inhibitors Phase 4
17 Factor Xa Inhibitors Phase 4
18 Fibrinolytic Agents Phase 4
19 Hemostatics Phase 4
20 HIV Protease Inhibitors Phase 4
21 Micronutrients Phase 4
22 Peripheral Nervous System Agents Phase 4
23 Platelet Aggregation Inhibitors Phase 4
24
protease inhibitors Phase 4
25 Serine Proteinase Inhibitors Phase 4
26 Trace Elements Phase 4
27 Vitamins Phase 4
28 Menaquinone Nutraceutical Phase 4
29 naphthoquinone Nutraceutical Phase 4
30 serine Nutraceutical Phase 4
31 Vitamin K Nutraceutical Phase 4

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 A Study of Apixaban in Patients With Atrial Fibrillation, Not Caused by a Heart Valve Problem, Who Are at Risk for Thrombosis (Blood Clots) Due to Having Had a Recent Coronary Event, Such as a Heart Attack or a Procedure to Open the Vessels of the Heart Recruiting NCT02415400 Phase 4 Apixaban;vitamin K antagonist;Acetylsalicylic acid
2 Lifestyle Intervention for Polycystic Ovary Syndrome: Pulse-Based Diet and Exercise Unknown status NCT01288638
3 Noninvasive Screening for Affected Pregnancies: Assay Development & Optimization in Affected Pregnancies Recruiting NCT01052688

Search NIH Clinical Center for Pierson Syndrome

Cochrane evidence based reviews: pierson syndrome

Genetic Tests for Pierson Syndrome

Genetic tests related to Pierson Syndrome:

id Genetic test Affiliating Genes
1 Pierson Syndrome 29 24 LAMB2

Anatomical Context for Pierson Syndrome

MalaCards organs/tissues related to Pierson Syndrome:

39
Eye, Kidney, Heart, Ovary, Skeletal Muscle

Publications for Pierson Syndrome

Articles related to Pierson Syndrome:

(show all 17)
id Title Authors Year
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
A novel mutation of laminin I^-2 gene in Pierson syndrome manifested with nephrotic syndrome in the early neonatal period. ( 24032283 )
2013
4
Next generation sequencing to dissect hereditary nephrotic syndrome in mice identifies a hypomorphic mutation in Lamb2 and models Pierson Syndrome. ( 24293254 )
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
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
8
A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome. ( 21236492 )
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
A milder variant of Pierson syndrome. ( 17943323 )
2008
12
Variable phenotype of Pierson syndrome. ( 18278520 )
2008
13
Ophthalmological aspects of Pierson syndrome. ( 18672223 )
2008
14
Pierson syndrome: a novel cause of congenital nephrotic syndrome. ( 16864643 )
2006
15
Prenatal findings in four consecutive pregnancies with fetal Pierson syndrome, a newly defined congenital nephrosis syndrome. ( 16450351 )
2006
16
Transgenic isolation of skeletal muscle and kidney defects in laminin beta2 mutant mice: implications for Pierson syndrome. ( 16452099 )
2006
17
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
id 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
id 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 GRCh37 Chromosome 3, 49162353: 49162353

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 GeneCards Suite gene sharing:

(show all 21)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.03 COL4A1 LAMA5 LAMB1 LAMB2
2
Show member pathways
12.73 COL4A1 LAMA5 LAMB1 LAMB2
3
Show member pathways
12.55 COL4A1 LAMA5 LAMB1 LAMB2
4
Show member pathways
12.46 LAMA5 LAMB1 LAMB2
5
Show member pathways
12.41 COL4A1 LAMA5 LAMB1 LAMB2
6 12.33 COL4A1 LAMA5 LAMB1 LAMB2
7 12.33 COL4A1 LAMA5 LAMB1 LAMB2
8
Show member pathways
12.05 LAMA5 LAMB1 LAMB2
9
Show member pathways
11.96 LAMA5 LAMB1 LAMB2
10
Show member pathways
11.83 COL4A1 LAMB2
11
Show member pathways
11.63 COL4A1 LAMA5 LAMB1 LAMB2
12 11.45 LAMA5 LAMB2 NPHS2
13
Show member pathways
11.37 LAMA5 LAMB1 LAMB2
14 11.36 COL4A1 LAMB1
15 11.26 COL4A1 LAMB1
16 11.25 LAMA5 LAMB1 LAMB2
17 11.24 COL4A1 LAMA5 LAMB1 LAMB2
18 11.19 COL4A1 LAMB2
19 11.15 COL4A1 LAMB1
20 10.95 LAMA5 LAMB1 LAMB2
21 10.85 COL4A1 LAMA5 LAMB1 LAMB2

GO Terms for Pierson Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.76 COL4A1 LAMA5 LAMB1 LAMB2
2 proteinaceous extracellular matrix GO:0005578 9.62 COL4A1 LAMA5 LAMB1 LAMB2
3 endoplasmic reticulum lumen GO:0005788 9.61 COL4A1 LAMB1 LAMB2
4 extracellular matrix GO:0031012 9.56 COL4A1 LAMA5 LAMB1 LAMB2
5 basal lamina GO:0005605 9.4 LAMA5 LAMB2
6 synaptic cleft GO:0043083 9.37 LAMA5 LAMB2
7 laminin-11 complex GO:0043260 9.16 LAMA5 LAMB2
8 laminin-10 complex GO:0043259 8.96 LAMA5 LAMB1
9 basement membrane GO:0005604 8.92 COL4A1 LAMA5 LAMB1 LAMB2

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

id Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.5 LAMA5 LAMB1 LAMB2
2 neuron projection development GO:0031175 9.37 LAMB1 LAMB2
3 substrate adhesion-dependent cell spreading GO:0034446 9.26 LAMA5 LAMB1
4 neuromuscular junction development GO:0007528 9.16 COL4A1 LAMB2
5 metanephric glomerular visceral epithelial cell development GO:0072249 8.96 LAMB2 NPHS2
6 extracellular matrix organization GO:0030198 8.92 COL4A1 LAMA5 LAMB1 LAMB2

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

id Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 9.16 LAMA5 LAMB2
2 extracellular matrix structural constituent GO:0005201 8.96 COL4A1 LAMB1
3 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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