PIERSS
MCID: PRS055
MIFTS: 54

Pierson Syndrome (PIERSS)

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

Aliases & Classifications for Pierson Syndrome

MalaCards integrated aliases for Pierson Syndrome:

Name: Pierson Syndrome 57 12 20 58 72 36 29 13 6 44 15 39 70
Microcoria-Congenital Nephrotic Syndrome 57 72
Microcoria-Congenital Nephrosis Syndrome 12 58
Microcoria - Congenital Nephrotic Syndrome 20
Microcoria - Congenital Nephrosis 20
Pierss 72

Characteristics:

Orphanet epidemiological data:

58
pierson syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
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:
Inheritance autosomal recessive inheritance
Onset and clinical course neonatal onset


Classifications:

Orphanet: 58  
Rare eye diseases
Rare renal diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0060852
OMIM® 57 609049
KEGG 36 H00576
MeSH 44 C537185
NCIt 50 C128145
SNOMED-CT 67 723449004
MESH via Orphanet 45 C537185
ICD10 via Orphanet 33 Q13.8
UMLS via Orphanet 71 C1836876
Orphanet 58 ORPHA2670
MedGen 41 C1836876
UMLS 70 C1836876

Summaries for Pierson Syndrome

GARD : 20 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 diffuse mesangial sclerosis and nephrotic syndrome, type 1, 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 skeletal muscle, and related phenotypes are blindness and proteinuria

Disease Ontology : 12 A syndrome 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) (Updated 20-May-2021)

KEGG : 36 Pierson syndrome is an autosomal recessive disease characterized by congenital nephrotic syndrome, bilateral microcoria, and neurological abnormalities. The nephrotic syndrome progresses to end-stage renal disease during the first year of life. Pierson syndrome is caused by a deficiency of 2-laminin in the basement membrane.

UniProtKB/Swiss-Prot : 72 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:

(show top 50) (show all 87)
# Related Disease Score Top Affiliating Genes
1 diffuse mesangial sclerosis 29.6 WT1 PLCE1 NPHS2 NPHS1 LAMB2 LAMB1
2 nephrotic syndrome, type 1 29.3 WT1 NPHS2 NPHS1 CD2AP ACTN4
3 proteinuria, chronic benign 29.1 NPHS2 NPHS1 INF2 COL4A5 COL4A4 COL4A3
4 end stage renal disease 28.8 NPHS2 NPHS1 INF2 COL4A5 COL4A4 COL4A3
5 familial nephrotic syndrome 28.1 WT1 PLCE1 NPHS2 NPHS1 NID1 LMX1B
6 nephrotic syndrome 27.6 WT1 PLCE1 NPHS2 NPHS1 LMX1B LAMB2
7 alport syndrome 26.2 NPHS2 NPHS1 NID1 LMX1B LAMB2 LAMB1
8 microcoria, congenital 11.2
9 nephrotic syndrome, type 5, with or without ocular abnormalities 11.0
10 autosomal recessive disease 10.3
11 retinal detachment 10.2
12 myopia 10.2
13 hypotonia 10.2
14 focal segmental glomerulosclerosis 8 10.2 LAMB2 INF2
15 alport syndrome 1, x-linked 10.2 COL4A5 COL4A4
16 focal segmental glomerulosclerosis 7 10.2 LAMB2 INF2
17 kidney hypertrophy 10.2 NPHS2 NPHS1
18 focal segmental glomerulosclerosis 9 10.2 LAMB2 INF2
19 irregular astigmatism 10.2 COL4A4 COL4A3
20 congenital syphilis 10.1 PLCE1 NPHS2 NPHS1
21 alport syndrome 3, autosomal dominant 10.1 COL4A4 COL4A3
22 acute proliferative glomerulonephritis 10.1 NPHS2 NPHS1 COL4A3
23 xia-gibbs syndrome 10.1 COL4A5 COL4A4
24 glomerular disease 10.1 CD2AP ACTN4
25 nephrotic syndrome, type 10 10.1 NPHS2 NPHS1
26 rapidly progressive glomerulonephritis 10.1 NPHS1 COL4A4 COL4A3
27 corneal dystrophy, posterior polymorphous, 3 10.1 COL4A4 COL4A3
28 megalocornea 10.1
29 yemenite deaf-blind hypopigmentation syndrome 10.1
30 toxic shock syndrome 10.1
31 iga glomerulonephritis 10.1 NPHS2 NPHS1 CD2AP
32 presynaptic congenital myasthenic syndromes 10.0 LAMA5 AGRN
33 anti-basement membrane glomerulonephritis 10.0 COL4A5 COL4A4 COL4A3
34 idiopathic steroid-resistant nephrotic syndrome 10.0 WT1 NPHS2 NPHS1
35 junctional epidermolysis bullosa 10.0 NID1 LAMB1 HSPG2
36 stickler syndrome 10.0 COL4A5 COL4A4 COL4A3
37 hypoparathyroidism, sensorineural deafness, and renal disease 10.0 NPHS2 NPHS1 LAMB2 ACTN4
38 autosomal dominant alport syndrome 9.9 NPHS2 COL4A5 COL4A4 COL4A3
39 x-linked alport syndrome 9.9 NID1 COL4A5 COL4A4 COL4A3
40 autoimmune disease of urogenital tract 9.9 NPHS1 COL4A5 COL4A4 COL4A3
41 gastroesophageal reflux 9.9
42 anencephaly 9.9
43 persistent hyperplastic primary vitreous, autosomal recessive 9.9
44 hydrops fetalis, nonimmune 9.9
45 intraocular pressure quantitative trait locus 9.9
46 lymphatic malformation 7 9.9
47 scoliosis 9.9
48 oligohydramnios 9.9
49 retinal ischemia 9.9
50 hypothyroidism 9.9

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



Diseases related to Pierson Syndrome

Symptoms & Phenotypes for Pierson Syndrome

Human phenotypes related to Pierson Syndrome:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 blindness 31 HP:0000618
2 proteinuria 31 HP:0000093
3 nephrotic syndrome 31 HP:0000100
4 hypoplasia of the iris 31 HP:0007676
5 areflexia 31 HP:0001284
6 psychomotor retardation 31 HP:0025356
7 generalized hypotonia 31 HP:0001290
8 edema 31 HP:0000969
9 hypoproteinemia 31 HP:0003075
10 stage 5 chronic kidney disease 31 HP:0003774
11 posterior lenticonus 31 HP:0011502
12 hypotonia 31 HP:0001252
13 diffuse mesangial sclerosis 31 HP:0001967
14 microcoria 31 HP:0025492
15 hypoplasia of the ciliary body 31 HP:0007774

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
blindness
hypoplasia of the iris
hypoplasia of the ciliary body
nonreactive, fixed narrowing of the pupil ('microcoria')
aplasia or atrophy of the dilatator pupillae muscle
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
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

Laboratory Abnormalities:
hypoproteinemia

Clinical features from OMIM®:

609049 (Updated 20-May-2021)

UMLS symptoms related to Pierson Syndrome:


edema

MGI Mouse Phenotypes related to Pierson Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.25 ACTN4 AGRN CD2AP COL4A3 COL4A5 HSPG2
2 growth/size/body region MP:0005378 10.22 ACTN4 AGRN CD2AP COL4A3 COL4A4 COL4A5
3 homeostasis/metabolism MP:0005376 10.21 ACTN4 AGRN CD2AP COL4A3 COL4A4 COL4A5
4 behavior/neurological MP:0005386 10.2 AGRN CD2AP COL4A3 COL4A4 HSPG2 LAMA5
5 mortality/aging MP:0010768 10.1 ACTN4 AGRN CD2AP COL4A3 COL4A4 COL4A5
6 immune system MP:0005387 10.02 ACTN4 CD2AP COL4A3 COL4A4 COL4A5 HSPG2
7 muscle MP:0005369 9.76 ACTN4 AGRN HSPG2 LAMB1 LMX1B NID1
8 renal/urinary system MP:0005367 9.73 ACTN4 AGRN CD2AP COL4A3 COL4A4 COL4A5
9 vision/eye MP:0005391 9.28 ACTN4 COL4A3 COL4A4 COL4A5 HSPG2 LAMA5

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:

40
Eye, Kidney, Skeletal Muscle, Brain

Publications for Pierson Syndrome

Articles related to Pierson Syndrome:

(show top 50) (show all 79)
# Title Authors PMID Year
1
Neurodevelopmental deficits in Pierson (microcoria-congenital nephrosis) syndrome. 6 61 57
17256789 2007
2
Demonstration of two novel LAMB2 mutations in the original Pierson syndrome family reported 42 years ago. 61 57 6
16097004 2005
3
Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. 6 57 61
15367484 2004
4
Congenital nephrosis, mesangial sclerosis, and distinct eye abnormalities with microcoria: an autosomal recessive syndrome. 61 57 6
15372515 2004
5
Familial infantile nephrotic syndrome with ocular abnormalities. 6 57
2206901 1990
6
[AN UNUSUAL CONGENITAL AND FAMILIAL CONGENITAL MALFORMATIVE COMBINATION INVOLVING THE EYE AND KIDNEY]. 57 6
14136829 1963
7
Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders. 57 61
16912710 2006
8
Proteinuria precedes podocyte abnormalities inLamb2-/- mice, implicating the glomerular basement membrane as an albumin barrier. 57 61
16886065 2006
9
Clinical genetic testing using a custom-designed steroid-resistant nephrotic syndrome gene panel: analysis and recommendations. 6
28780565 2017
10
Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome. 6
20507940 2010
11
The renal glomerulus of mice lacking s-laminin/laminin beta 2: nephrosis despite molecular compensation by laminin beta 1. 57
7670489 1995
12
Aberrant differentiation of neuromuscular junctions in mice lacking s-laminin/laminin beta 2. 57
7885444 1995
13
Congenital nephrotic syndrome associated with Lowe's syndrome. 57
2253259 1990
14
Congenital nephrotic syndrome with congenital buphthalmos: a new genetic entity? 57
2503834 1989
15
Congenital nephrotic syndrome: clinico-pathological heterogeneity and prenatal diagnosis. 57
6851264 1983
16
Congenital glomerulosclerosis and nephrotic syndrome in two infants. Speculations and pathogenesis. 57
463838 1979
17
Neurological involvement in monogenic podocytopathies. 61
33791874 2021
18
Laminin β2 variants associated with isolated nephropathy that impact matrix regulation. 61
33749661 2021
19
Development of neovascular glaucoma after intraocular surgery in Pierson syndrome. 61
33554690 2021
20
Complexities of the glomerular basement membrane. 61
32839582 2021
21
An extremely mild clinical course in a case with LAMB2-associated nephritis diagnosed with next-generation sequencing. 61
33476040 2021
22
Pierson Syndrome in an Infant With Congenital Nephrotic Syndrome and Unique Brain Pathology. 61
33305134 2020
23
Pierson Syndrome Associated with Hypothyroidism and Septic Shock. 61
33414946 2020
24
Posterior Segment Characterization in Children With Pierson Syndrome. 61
33231694 2020
25
A deletion in the N-terminal polymerizing domain of laminin β2 is a new mouse model of chronic nephrotic syndrome. 61
32456966 2020
26
A new mutation associated with Pierson syndrome. 61
32470267 2020
27
Microcoria due to first duplication of 13q32.1 including the GPR180 gene and maternal mosaicism. 61
32200002 2020
28
Molecular mechanisms determining severity in patients with Pierson syndrome. 61
31959872 2020
29
Gastrointestinal symptoms as an extended clinical feature of Pierson syndrome: a case report and review of the literature. 61
32295525 2020
30
Mutations in LAMB2 Are Associated With Albuminuria and Optic Nerve Hypoplasia With Hypopituitarism. 61
31769495 2020
31
A Novel Homozygous Truncating Mutation in LAMB2 Gene in a Chinese Uyghur Patient With Severe Phenotype Pierson Syndrome. 61
30778388 2019
32
Ocular findings in a case of Pierson syndrome with a novel mutation in laminin ß2 gene. 61
30120985 2018
33
Alport syndrome and Pierson syndrome: Diseases of the glomerular basement membrane. 61
29673759 2018
34
Laminin-521 Protein Therapy for Glomerular Basement Membrane and Podocyte Abnormalities in a Model of Pierson Syndrome. 61
29472414 2018
35
Chimeric protein identification of dystrophic, Pierson and other laminin polymerization residues. 61
29408412 2018
36
AJKD Atlas of Renal Pathology: Pierson Syndrome. 61
29579420 2018
37
Pathogenicity of a Human Laminin β2 Mutation Revealed in Models of Alport Syndrome. 61
29263159 2018
38
Skeletal impairment in Pierson syndrome: Is there a role for lamininβ2 in bone physiology? 61
29051055 2018
39
Basement Membrane Defects in Genetic Kidney Diseases. 61
29435440 2018
40
Kidney transplantation in a child with Pierson syndrome. 61
29094445 2017
41
Nephron development and extrarenal features in a child with congenital nephrotic syndrome caused by null LAMB2 mutations. 61
28683731 2017
42
A novel mutation of laminin β2 (LAMB2) in two siblings with renal failure. 61
28188379 2017
43
The role of laminins in the organization and function of neuromuscular junctions. 61
27614294 2017
44
LAMB2 mutation with different phenotypes in China
. 61
27925579 2017
45
[New genetic mutation associated with Pierson syndrome]. 61
26975222 2016
46
A novel LAMB2 gene mutation associated with a severe phenotype in a neonate with Pierson syndrome. 61
27130041 2016
47
Simultaneous mutations of LAMB2 and NPHP1genes in a Chinese girl with isolated congenital nephrotic syndrome: a case report. 61
27004562 2016
48
Pierson syndrome - a rare cause of congenital nephrotic syndrome. 61
24944146 2014
49
The glomerular basement membrane as a barrier to albumin. 61
23774818 2013
50
Laminin β2 gene missense mutation produces endoplasmic reticulum stress in podocytes. 61
23723427 2013

Variations for Pierson Syndrome

ClinVar genetic disease variations for Pierson Syndrome:

6 (show top 50) (show all 392)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LAMB2 NM_002292.4(LAMB2):c.3015del (p.Gln1006fs) Deletion Pathogenic 14529 rs1560072794 GRCh37: 3:49162228-49162228
GRCh38: 3:49124795-49124795
2 LAMB2 NM_002292.4(LAMB2):c.736C>T (p.Arg246Trp) SNV Pathogenic 14530 rs121912488 GRCh37: 3:49168562-49168562
GRCh38: 3:49131129-49131129
3 LAMB2 NM_002292.4(LAMB2):c.5258dup (p.Glu1754fs) Duplication Pathogenic 14531 rs1560063136 GRCh37: 3:49158867-49158868
GRCh38: 3:49121434-49121435
4 LAMB2 NM_002292.4(LAMB2):c.2067C>G (p.Tyr689Ter) SNV Pathogenic 14532 rs121912489 GRCh37: 3:49163882-49163882
GRCh38: 3:49126449-49126449
5 LAMB2 NM_002292.4(LAMB2):c.1122T>A (p.Cys374Ter) SNV Pathogenic 14533 rs121912490 GRCh37: 3:49167767-49167767
GRCh38: 3:49130334-49130334
6 LAMB2 NM_002292.4(LAMB2):c.2890C>T (p.Arg964Ter) SNV Pathogenic 180395 rs730880125 GRCh37: 3:49162353-49162353
GRCh38: 3:49124920-49124920
7 LAMB2 NM_002292.4(LAMB2):c.1307del (p.Gly436fs) Deletion Pathogenic 429193 rs1131690794 GRCh37: 3:49167370-49167370
GRCh38: 3:49129937-49129937
8 LAMB2 NM_002292.4(LAMB2):c.4773dup (p.Arg1592fs) Duplication Pathogenic 472489 rs1553776921 GRCh37: 3:49159603-49159604
GRCh38: 3:49122170-49122171
9 LAMB2 NM_002292.4(LAMB2):c.4762C>T (p.Gln1588Ter) SNV Pathogenic 660396 rs775456607 GRCh37: 3:49159615-49159615
GRCh38: 3:49122182-49122182
10 LAMB2 NM_002292.4(LAMB2):c.4510_4552del (p.Gln1504fs) Deletion Pathogenic 842232 GRCh37: 3:49160158-49160200
GRCh38: 3:49122725-49122767
11 LAMB2 NM_002292.4(LAMB2):c.1477del (p.Cys493fs) Deletion Pathogenic 848378 GRCh37: 3:49167078-49167078
GRCh38: 3:49129645-49129645
12 LAMB2 NM_002292.4(LAMB2):c.3109+1G>T SNV Likely pathogenic 505117 rs888830612 GRCh37: 3:49162133-49162133
GRCh38: 3:49124700-49124700
13 LAMB2 NM_002292.4(LAMB2):c.4276dup (p.Ala1426fs) Duplication Likely pathogenic 974892 GRCh37: 3:49160433-49160434
GRCh38: 3:49123000-49123001
14 LAMB2 NM_002292.4(LAMB2):c.970T>C (p.Cys324Arg) SNV Likely pathogenic 982086 GRCh37: 3:49168239-49168239
GRCh38: 3:49130806-49130806
15 LAMB2 NM_002292.4(LAMB2):c.787C>T (p.Arg263Trp) SNV Uncertain significance 999478 GRCh37: 3:49168511-49168511
GRCh38: 3:49131078-49131078
16 LAMB2 NM_002292.4(LAMB2):c.2840A>T (p.Glu947Val) SNV Uncertain significance 1000358 GRCh37: 3:49162483-49162483
GRCh38: 3:49125050-49125050
17 LAMB2 NM_002292.4(LAMB2):c.3838G>A (p.Glu1280Lys) SNV Uncertain significance 1001019 GRCh37: 3:49161024-49161024
GRCh38: 3:49123591-49123591
18 LAMB2 NM_002292.4(LAMB2):c.2702G>C (p.Gly901Ala) SNV Uncertain significance 1001115 GRCh37: 3:49162704-49162704
GRCh38: 3:49125271-49125271
19 LAMB2 NM_002292.4(LAMB2):c.1169G>A (p.Arg390Gln) SNV Uncertain significance 1002770 GRCh37: 3:49167720-49167720
GRCh38: 3:49130287-49130287
20 LAMB2 NM_002292.4(LAMB2):c.4459G>T (p.Ala1487Ser) SNV Uncertain significance 1004294 GRCh37: 3:49160251-49160251
GRCh38: 3:49122818-49122818
21 LAMB2 NM_002292.4(LAMB2):c.3470G>A (p.Arg1157His) SNV Uncertain significance 447698 rs766772811 GRCh37: 3:49161488-49161488
GRCh38: 3:49124055-49124055
22 LAMB2 NM_002292.4(LAMB2):c.903T>A (p.His301Gln) SNV Uncertain significance 1007161 GRCh37: 3:49168395-49168395
GRCh38: 3:49130962-49130962
23 LAMB2 NM_002292.4(LAMB2):c.5329G>A (p.Glu1777Lys) SNV Uncertain significance 1007841 GRCh37: 3:49158727-49158727
GRCh38: 3:49121294-49121294
24 LAMB2 NM_002292.4(LAMB2):c.2749C>T (p.Arg917Trp) SNV Uncertain significance 1008347 GRCh37: 3:49162574-49162574
GRCh38: 3:49125141-49125141
25 LAMB2 NM_002292.4(LAMB2):c.4741C>T (p.Arg1581Cys) SNV Uncertain significance 1011781 GRCh37: 3:49159636-49159636
GRCh38: 3:49122203-49122203
26 LAMB2 NM_002292.4(LAMB2):c.4004A>G (p.His1335Arg) SNV Uncertain significance 1014155 GRCh37: 3:49160785-49160785
GRCh38: 3:49123352-49123352
27 LAMB2 NM_002292.4(LAMB2):c.2773C>T (p.Arg925Trp) SNV Uncertain significance 1015755 GRCh37: 3:49162550-49162550
GRCh38: 3:49125117-49125117
28 LAMB2 NM_002292.4(LAMB2):c.4919A>G (p.Tyr1640Cys) SNV Uncertain significance 1015803 GRCh37: 3:49159381-49159381
GRCh38: 3:49121948-49121948
29 LAMB2 NM_002292.4(LAMB2):c.4367C>T (p.Ala1456Val) SNV Uncertain significance 1015857 GRCh37: 3:49160343-49160343
GRCh38: 3:49122910-49122910
30 LAMB2 NM_002292.4(LAMB2):c.2284T>C (p.Ser762Pro) SNV Uncertain significance 1016673 GRCh37: 3:49163460-49163460
GRCh38: 3:49126027-49126027
31 LAMB2 NM_002292.4(LAMB2):c.5186C>T (p.Ala1729Val) SNV Uncertain significance 1016756 GRCh37: 3:49158940-49158940
GRCh38: 3:49121507-49121507
32 LAMB2 NM_002292.4(LAMB2):c.2579G>A (p.Arg860His) SNV Uncertain significance 1016999 GRCh37: 3:49162827-49162827
GRCh38: 3:49125394-49125394
33 LAMB2 NM_002292.4(LAMB2):c.2089C>T (p.Arg697Trp) SNV Uncertain significance 900474 GRCh37: 3:49163860-49163860
GRCh38: 3:49126427-49126427
34 LAMB2 NM_002292.4(LAMB2):c.2984T>C (p.Met995Thr) SNV Uncertain significance 1019223 GRCh37: 3:49162259-49162259
GRCh38: 3:49124826-49124826
35 LAMB2 NM_002292.4(LAMB2):c.4157A>G (p.Asn1386Ser) SNV Uncertain significance 1021645 GRCh37: 3:49160632-49160632
GRCh38: 3:49123199-49123199
36 LAMB2 NM_002292.4(LAMB2):c.661G>T (p.Val221Leu) SNV Uncertain significance 1022191 GRCh37: 3:49168863-49168863
GRCh38: 3:49131430-49131430
37 LAMB2 NM_002292.4(LAMB2):c.3413T>G (p.Leu1138Trp) SNV Uncertain significance 1022875 GRCh37: 3:49161634-49161634
GRCh38: 3:49124201-49124201
38 LAMB2 NM_002292.4(LAMB2):c.5233G>A (p.Ala1745Thr) SNV Uncertain significance 902726 GRCh37: 3:49158893-49158893
GRCh38: 3:49121460-49121460
39 LAMB2 NM_002292.4(LAMB2):c.4874T>A (p.Ile1625Asn) SNV Uncertain significance 1023301 GRCh37: 3:49159426-49159426
GRCh38: 3:49121993-49121993
40 LAMB2 NM_002292.4(LAMB2):c.3110-3C>T SNV Uncertain significance 1025046 GRCh37: 3:49162048-49162048
GRCh38: 3:49124615-49124615
41 LAMB2 NM_002292.4(LAMB2):c.1971G>A (p.Leu657=) SNV Uncertain significance 1026459 GRCh37: 3:49165938-49165938
GRCh38: 3:49128505-49128505
42 LAMB2 NM_002292.4(LAMB2):c.872A>G (p.Glu291Gly) SNV Uncertain significance 1026941 GRCh37: 3:49168426-49168426
GRCh38: 3:49130993-49130993
43 LAMB2 NM_002292.4(LAMB2):c.358C>T (p.Arg120Trp) SNV Uncertain significance 1034460 GRCh37: 3:49169730-49169730
GRCh38: 3:49132297-49132297
44 LAMB2 NM_002292.4(LAMB2):c.2690G>A (p.Arg897His) SNV Uncertain significance 1035158 GRCh37: 3:49162716-49162716
GRCh38: 3:49125283-49125283
45 LAMB2 NM_002292.4(LAMB2):c.4888G>A (p.Ala1630Thr) SNV Uncertain significance 1036192 GRCh37: 3:49159412-49159412
GRCh38: 3:49121979-49121979
46 LAMB2 NM_002292.4(LAMB2):c.2558G>T (p.Arg853Leu) SNV Uncertain significance 1036249 GRCh37: 3:49162848-49162848
GRCh38: 3:49125415-49125415
47 LAMB2 NM_002292.4(LAMB2):c.1654T>C (p.Cys552Arg) SNV Uncertain significance 1038879 GRCh37: 3:49166530-49166530
GRCh38: 3:49129097-49129097
48 LAMB2 NM_002292.4(LAMB2):c.4337C>T (p.Ala1446Val) SNV Uncertain significance 1041002 GRCh37: 3:49160373-49160373
GRCh38: 3:49122940-49122940
49 LAMB2 NM_002292.4(LAMB2):c.4328A>G (p.Asn1443Ser) SNV Uncertain significance 1041765 GRCh37: 3:49160382-49160382
GRCh38: 3:49122949-49122949
50 LAMB2 NM_002292.4(LAMB2):c.2961G>C (p.Glu987Asp) SNV Uncertain significance 1043139 GRCh37: 3:49162282-49162282
GRCh38: 3:49124849-49124849

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

72
# 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

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 26)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.74 PLCE1 LAMB2 LAMB1 LAMA5 HSPG2 COL4A5
2
Show member pathways
13.34 PLCE1 LAMB2 LAMB1 LAMA5 HSPG2 COL4A5
3
Show member pathways
12.97 PLCE1 LAMB2 LAMB1 LAMA5 HSPG2 COL4A5
4
Show member pathways
12.92 LAMB2 LAMB1 LAMA5 COL4A5 COL4A4 COL4A3
5
Show member pathways
12.89 LAMB1 COL4A5 COL4A4 COL4A3 ACTN4
6
Show member pathways
12.84 LAMB2 LAMB1 LAMA5 COL4A5 COL4A4 COL4A3
7 12.79 LAMB2 LAMB1 LAMA5 COL4A5 COL4A4 COL4A3
8
Show member pathways
12.56 NID1 LAMB2 LAMB1 LAMA5 HSPG2 COL4A5
9
Show member pathways
12.52 LAMB1 COL4A5 COL4A4 COL4A3 ACTN4
10
Show member pathways
12.43 NID1 LAMB2 LAMB1 LAMA5 HSPG2 AGRN
11
Show member pathways
11.95 LAMB2 HSPG2 AGRN
12 11.86 PLCE1 COL4A5 COL4A4 COL4A3
13 11.76 LAMB2 LAMB1 LAMA5 COL4A5 COL4A4 COL4A3
14
Show member pathways
11.75 LAMB2 LAMB1 LAMA5 HSPG2 COL4A5 COL4A4
15 11.71 LAMB2 LAMB1 LAMA5 COL4A5 COL4A4 COL4A3
16 11.59 LAMB2 LAMB1 LAMA5 AGRN
17 11.59 NID1 LAMB1 COL4A5 COL4A4 COL4A3
18 11.5 LAMB1 COL4A5 COL4A4 COL4A3
19 11.37 LAMB1 COL4A5 COL4A4 COL4A3 ACTN4
20 11.34 WT1 PLCE1 NPHS2 NPHS1 LMX1B LAMB2
21 11.33 COL4A5 COL4A4 COL4A3 AGRN
22 11.29 LAMB2 LAMB1 LAMA5
23 11.17 NPHS2 NPHS1 CD2AP
24 11.07 NPHS1 CD2AP ACTN4
25 10.94 PLCE1 LAMB2 LAMB1 LAMA5 HSPG2 COL4A5
26 10.9 HSPG2 AGRN

GO Terms for Pierson Syndrome

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 10.09 LAMB1 LAMA5 HSPG2 COL4A5 COL4A4 COL4A3
2 extracellular region GO:0005576 10.02 NID1 LAMB2 LAMB1 LAMA5 HSPG2 COL4A5
3 extracellular exosome GO:0070062 9.96 NPHS2 NPHS1 NID1 LAMB2 LAMB1 LAMA5
4 endoplasmic reticulum lumen GO:0005788 9.8 LAMB2 LAMB1 COL4A5 COL4A4 COL4A3
5 extracellular matrix GO:0031012 9.77 NID1 LAMA5 COL4A5 COL4A4 COL4A3
6 collagen trimer GO:0005581 9.7 COL4A5 COL4A4 COL4A3
7 neuromuscular junction GO:0031594 9.67 LAMB2 LAMA5 COL4A5
8 collagen-containing extracellular matrix GO:0062023 9.61 NID1 LAMB2 LAMB1 LAMA5 HSPG2 COL4A5
9 synaptic cleft GO:0043083 9.54 LAMB2 LAMA5
10 slit diaphragm GO:0036057 9.51 NPHS2 NPHS1
11 laminin complex GO:0043256 9.48 LAMB2 LAMB1
12 laminin-11 complex GO:0043260 9.46 LAMB2 LAMA5
13 laminin-10 complex GO:0043259 9.43 LAMB1 LAMA5
14 collagen type IV trimer GO:0005587 9.33 COL4A5 COL4A4 COL4A3
15 basement membrane GO:0005604 9.28 NID1 LAMB2 LAMB1 LAMA5 HSPG2 COL4A5

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.88 NPHS1 NID1 LAMB2 LAMB1 LAMA5 COL4A3
2 cell migration GO:0016477 9.8 LAMB2 LAMB1 LAMA5 CD2AP
3 animal organ morphogenesis GO:0009887 9.65 LAMB2 LAMB1 LAMA5 HSPG2 AGRN
4 tissue development GO:0009888 9.63 WT1 LAMB2 LAMB1 LAMA5 HSPG2 AGRN
5 substrate adhesion-dependent cell spreading GO:0034446 9.61 LAMB2 LAMB1 LAMA5
6 neuromuscular junction development GO:0007528 9.54 LAMB2 COL4A5 AGRN
7 glycosaminoglycan catabolic process GO:0006027 9.52 HSPG2 AGRN
8 collagen-activated tyrosine kinase receptor signaling pathway GO:0038063 9.51 COL4A5 COL4A3
9 basement membrane assembly GO:0070831 9.48 LAMB2 LAMB1
10 glomerulus development GO:0032835 9.46 WT1 PLCE1
11 glomerular basement membrane development GO:0032836 9.35 WT1 NPHS1 NID1 COL4A4 COL4A3
12 metanephric glomerular visceral epithelial cell development GO:0072249 9.32 NPHS2 LAMB2
13 extracellular matrix organization GO:0030198 9.28 NID1 LAMB2 LAMB1 LAMA5 HSPG2 COL4A5

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

# Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 9.35 LAMB2 LAMB1 LAMA5 COL4A3 ACTN4
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.33 COL4A5 COL4A4 COL4A3
3 laminin binding GO:0043236 9.26 NID1 AGRN
4 extracellular matrix structural constituent GO:0005201 9.23 NID1 LAMB2 LAMB1 LAMA5 COL4A5 COL4A4

Sources for Pierson Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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