Pierson syndrome

Term ID

DOID:0060852

Synonyms

• microcoria-congenital nephrosis 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. (2)

References

• GARD:9420
• MESH:C537185
• NCI:C128145
• OMIM:609049
• ORDO:2670
• SNOMEDCT_US_2023_03_01:723449004
• UMLS_CUI:C1836876

Ontology

Human Disease   ( DOID:0060852 )