nephrotic syndrome type 5

Term ID

DOID:0080380

Synonyms

nephrotic syndrome type 5, with or without ocular abnormalities

Definition

A familial nephrotic syndrome characterized by prenatal or neonatal onset of progressive renal failure with proteinurea and edema that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p. https://www.ncbi.nlm.nih.gov/pubmed/16912710

References

MIM:614199

Ontology

Human Disease ( DOID:0080380 )

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