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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/609049
http://purl.bioontology.org/ontology/OMIM/609049
|
|---|---|
| Preferred Name | PIERSON SYNDROME |
| Synonyms |
MICROCORIA-CONGENITAL NEPHROTIC SYNDROME
PIERS
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MICROCORIA-CONGENITAL NEPHROTIC SYNDROME
PIERS
|
|---|---|
| prefLabel | PIERSON SYNDROME
|
| Gene Symbol |
LAMB2
PIERS
NPHS5
LAMS
|
| Scope Statement | Homozygosity or compound heterozygosity for LAMB2 mutations conferring complete loss of function (e.g., truncating mutations) appear to be associated with Pierson syndrome [MISCELLANEOUS]
Caused by mutation in the laminin beta-2 gene (LAMB2, 150325.0001) [MOLECULAR BASIS]
Nontruncating (missense) LAMB2 mutations may display variable phenotypes ranging from a milder variant of Pierson syndrome to isolated congenital nephrotic syndrome [MISCELLANEOUS]
Death usually within first weeks of life [MISCELLANEOUS]
Neonatal onset of nephrotic syndrome [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 3p21
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 609049
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1836876
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| OMIM Entry Type | 3
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| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |