ZFIN Human Disease: Pierson syndrome

OBO ID: DOID:0060852

Term Name:	Pierson syndrome		Search Ontology:
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 )

Relationships

is a type of:	autosomal recessive disease syndrome autosomal recessive disease syndrome Show first 5 Terms

OTHER Pierson syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
LAMB2	lamb2	Pierson syndrome	609049

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None