DISEASES

Disease-gene associations mined from literature

Human genes for Pierson syndrome

Pierson syndrome [DOID:0060852]

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 on chromosome 3p21.

Synonyms:  Pierson syndrome,  DOID:0060852,  Pierson disease,  Pierson disorder,  Pierson syndromes ...