MCID: PRS055
MIFTS: 40

Pierson Syndrome malady

Categories: Genetic diseases, Rare diseases, Nephrological diseases

Aliases & Classifications for Pierson Syndrome

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 51Orphanet, 67UniProtKB/Swiss-Prot, 24GTR, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Pierson Syndrome:

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

Characteristics:

Orphanet epidemiological data:

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

HPO:

61
pierson syndrome:
Inheritance: autosomal recessive inheritance
Onset and clinical course: neonatal onset


Classifications:

Orphanet: 51 
Rare renal diseases


External Ids:

OMIM49 609049
Orphanet51 2670
ICD10 via Orphanet28 N04.8
MESH via Orphanet37 C537185
UMLS via Orphanet66 C1836876
MedGen34 C1836876
UMLS65 C1836876

Summaries for Pierson Syndrome

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NIH Rare Diseases:45 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, type 5, with or without ocular abnormalities and myocardial infarction, and has symptoms including proteinuria, nephrotic syndrome and cataract. An important gene associated with Pierson Syndrome is LAMB2 (Laminin Subunit Beta 2), and among its related pathways are Pathways in cancer and PI3K-Akt signaling pathway. Affiliated tissues include eye, kidney and ovary.

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.

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

Related Diseases for Pierson Syndrome

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

(show all 18)
idRelated DiseaseScoreTop Affiliating Genes
1nephrotic syndrome, type 5, with or without ocular abnormalities10.4
2myocardial infarction10.2
3breast cancer10.2
4chondrosarcoma10.2
5lymphoma10.2
6sialadenitis10.2
7open-angle glaucoma10.2
8heart disease10.2
9kwashiorkor10.2
10impotence10.2
11extramedullary plasmacytoma10.2
12plasmacytoma10.2
13hyperglycemia10.2
14vasculogenic impotence10.2
15hyperhomocysteinemia10.2
16triploidy10.2
17diffuse neonatal hemangiomatosis9.7LAMB1, LAMB2
18pierson syndrome9.5LAMB1, 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 23)
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 proteinuria HP:0000093
13 nephrotic syndrome HP:0000100
14 blindness HP:0000618
15 edema HP:0000969
16 muscular hypotonia HP:0001252
17 areflexia HP:0001284
18 diffuse mesangial sclerosis HP:0001967
19 hypoproteinemia HP:0003075
20 stage 5 chronic kidney disease HP:0003774
21 hypoplasia of the iris HP:0007676
22 hypoplasia of the ciliary body HP:0007774
23 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 LAMB2

Anatomical Context for Pierson Syndrome

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MalaCards organs/tissues related to Pierson Syndrome:

33
Eye, Kidney, Ovary, Colon, Breast, Testes

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
Immune complex-mediated autoimmunity in a patient With Smith-Magenis syndrome (del 17p11.2). (25036569)
2014
2
Inflammatory bowel disease in primary sclerosing cholangitis: a robust yet changing relationship. (23502353)
2013
3
Role of Klebsiella pneumoniae type 1 and type 3 fimbriae in colonizing silicone tubes implanted into the bladders of mice as a model of catheter-associated urinary tract infections. (23753626)
2013
4
Preservation of Internal Iliac Arterial Flow during Endovascular Aortic Aneurysm Repair Using the &quot;Sandwich&quot; Technique. (24436521)
2013
5
Challenging the classification of clinical relevance of positive patch tests results in allergic contact dermatitis: a report on an infant. (18986459)
2008
6
Identification of RASSF1A modulated genes in nasopharyngeal carcinoma. (16116475)
2006
7
Mechanism of lysine 48-linked ubiquitin-chain synthesis by the cullin-RING ubiquitin-ligase complex SCF-Cdc34. (16360039)
2005
8
Leptin gene expression and systemic levels in healthy men: effect of exercise, carbohydrate, interleukin-6, and epinephrine. (15640395)
2005
9
Chenodeoxycholic treatment of cerebrotendinous xanthomatosis. (11245734)
2001
10
Effect of CD34+ selection and various schedules of stem cell reinfusion and granulocyte colony-stimulating factor priming on hematopoietic recovery after high-dose chemotherapy for breast cancer. (9057632)
1997
11
Common variable immunodeficiency (CVID) and MxA-protein expression in blood leucocytes. (7542578)
1995
12
Androgenic granulosa cell tumor of the ovary: in vivo hormonal studies. (8227985)
1993
13
Evidence for distinctive and intrinsic defects in insulin action in polycystic ovary syndrome. (1397698)
1992
14
Human carboxypeptidase E. Isolation and characterization of the cDNA, sequence conservation, expression and processing in vitro. (2334405)
1990
15
Hereditary spherocytosis presenting in pregnancy. (6433629)
1984
16
Nervous and muscular systems in myxedema. (14479473)
1961

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 variantPathogenicrs730880125GRCh38Chr 3, 49124920: 49124920

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
1basement membraneGO:00056049.1LAMB1, 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