nephrotic syndrome type 3

Term ID

DOID:0080382

Synonyms

early onset nephrotic syndrome type 3

Definition

A familial nephrotic syndrome characterized by early childhood onset, steroid restance and diffuse mesangial sclerosis in most patients that has_material_basis_in homozygous or compound heterozygous mutation in the PLCE1 gene on chromosome 10q23. (2)

References

MIM:610725

Ontology

Human Disease ( DOID:0080382 )

Relationships

is a type of: autosomal recessive disease familial nephrotic syndrome

autosomal recessive disease familial nephrotic syndrome Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models