Details of Disease

General Information of Disease (ID: DISPHEAV)

• Disease Name: LAMB2-related infantile-onset nephrotic syndrome
• Synonyms: nephrotic syndrome, type 5, with or without ocular abnormalities; NPHS5
• Definition: LAMB2-related infantile-onset nephrotic syndrome is a rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterized by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, edema, hypertension, and hyperlipidemia. Psychomotor development is normal.
• Disease Hierarchy:
  DISADF8G: Familial nephrotic syndrome
  DISSPSC2: Nephrotic syndrome
  DISPHEAV: LAMB2-related infantile-onset nephrotic syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0013621
  OMIM ID: 614199
  MedGen ID: 481743
  Orphanet ID: 306507

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LAMB2	OT71OI2Y	Strong	Autosomal recessive	[1]

References

• [1] Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.