Version: 8.0.0
Date: Tue Jan 28 2025
Pierson syndrome
DOID:0060852
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

Pierson syndrome

Definition
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 gene on chromosome 3p21.
Synonyms
  • microcoria-congenital nephrosis syndrome
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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