MCID: PRS055
MIFTS: 30

Pierson Syndrome malady

Nephrological diseases category

Summaries for Pierson Syndrome

About this section
Sources:
42NIH Rare Diseases, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NIH Rare Diseases:42 Pierson syndrome is a disease chiefly affecting the kidneys and eyes. it is characterized by the association of congenital nephrotic syndrome and ocular (eye) abnormalities with microcoria (small pupils that are not responsive to light). nephrotic syndrome causes proteinuria (protein in the urine). ocular anomalies are present from birth and may include microcoria associated with absence of the pupillary dilator muscle in the iris and abnormal eye development with lens-shape, retinal and corneal anomalies. hypotonia (poor muscle tone), movement disorders and psychomotor delay have also been reported. pierson syndrome is caused by mutations in the lamb2 gene and is inherited in an autosomal recessive manner. last updated: 7/11/2011

MalaCards: Pierson Syndrome, also known as microcoria - congenital nephrosis, is related to nephrotic syndrome and congenital nephrotic syndrome finnish type, and has symptoms including micropenis/small penis/agenesis, autosomal recessive inheritance and hemiplegia/diplegia/hemiparesia/limb palsy. An important gene associated with Pierson Syndrome is LAMB2 (laminin, beta 2 (laminin S)). Affiliated tissues include kidney and eye.

Description from OMIM:46 609049

Aliases & Classifications for Pierson Syndrome

About this section
Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Nephrological diseases


Characteristics (Orphanet epidemiological data):

48
pierson syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

pierson syndrome 42 20 22 46 48 60
microcoria - congenital nephrosis 42 48
microcoria - congenital nephrotic syndrome 42
finnish congenital nephrotic syndrome 60


External Ids:

OMIM46 609049
MESH via Orphanet35 C537185
ICD10 via Orphanet26 N04.8
UMLS via Orphanet61 C1836876

Related Diseases for Pierson Syndrome

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

idRelated DiseaseScoreTop Affiliating Genes
1nephrotic syndrome10.4
2congenital nephrotic syndrome finnish type10.2
3proteinuria10.1
4nephrotic syndrome, type 5, with or without ocular abnormalities10.1

Clinical Features for Pierson Syndrome

About this section
Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

609049

Clinical synopsis from OMIM:

609049

Symptoms:

48 (show all 12)
  • micropenis/small penis/agenesis
  • autosomal recessive inheritance
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • hypotonia
  • movement disorder
  • eeg anomalies
  • hematuria/microhematuria
  • proteinuria
  • nephrotic syndrome
  • chronic arterial hypertension
  • nystagmus
  • cataract/lens opacification

Drugs & Therapeutics for Pierson Syndrome

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Pierson Syndrome

Drug clinical trials:

Search ClinicalTrials for Pierson Syndrome

Search NIH Clinical Center for Pierson Syndrome

Search CenterWatch for Pierson Syndrome

Genetic Tests for Pierson Syndrome

About this section
Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Pierson Syndrome:

id Genetic test Affiliating Genes
1 Pierson Syndrome20 22 LAMB2

Anatomical Context for Pierson Syndrome

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Pierson Syndrome:

32
Kidney, Eye

Animal Models for Pierson Syndrome or affiliated genes

About this section

Publications for Pierson Syndrome

About this section

Genetic Variations for Pierson Syndrome

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Pierson Syndrome:

62
id Symbol AA change Variation ID SNP ID
1LAMB2p.Arg246GlnVAR_031968
2LAMB2p.Arg246TrpVAR_031969
3LAMB2p.Cys321ArgVAR_031970
4LAMB2p.Asn1380LysVAR_031972
5LAMB2p.Leu1393PheVAR_031973

Expression for genes affiliated with Pierson Syndrome

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Pierson Syndrome

Search GEO for disease gene expression data for Pierson Syndrome.

Pathways for genes affiliated with Pierson Syndrome

About this section

Compounds for genes affiliated with Pierson Syndrome

About this section

GO Terms for genes affiliated with Pierson Syndrome

About this section

Products for genes affiliated with Pierson Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pierson Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet