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Glomerular basement membrane disruption

MedGen UID:
Concept ID:
Anatomical Abnormality
Synonyms: Disruption of the glomerular basement membrane; Glomerular basement membrane rupture
HPO: HP:0033485


A point of rupture in the glomerular basement membrane (GBM) where the discontinuous portions of GBM are still identifiable with a basement membrane stain such as Periodic acid Schiff (PAS) or silver. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGlomerular basement membrane disruption

Conditions with this feature

Epidermolysis bullosa simplex 7, with nephropathy and deafness
MedGen UID:
Concept ID:
Disease or Syndrome
Epidermolysis bullosa simplex (EBS) is characterized by fragility of the skin (and mucosal epithelia in some instances) that results in non-scarring blisters and erosions caused by minor mechanical trauma. EBS is distinguished from other types of epidermolysis bullosa (EB) or non-EB skin fragility syndromes by the location of the blistering in relation to the dermal-epidermal junction. In EBS, blistering occurs within basal keratinocytes. The severity of blistering ranges from limited to hands and feet to widespread involvement. Additional features can include hyperkeratosis of the palms and soles (keratoderma), nail dystrophy, milia, and hyper- and/or hypopigmentation. Rare EBS subtypes have been associated with additional clinical features including pyloric atresia, muscular dystrophy, cardiomyopathy, and/or nephropathy.

Professional guidelines


Moschidou D, Corcelli M, Hau KL, Ekwalla VJ, Behmoaras JV, De Coppi P, David AL, Bou-Gharios G, Cook HT, Pusey CD, Fisk NM, Guillot PV
Stem Cells Dev 2016 Mar 1;25(5):395-404. Epub 2016 Feb 18 doi: 10.1089/scd.2015.0305. PMID: 26728561
Harter HR, Martin KJ
Postgrad Med 1982 Dec;72(6):185-6, 191-8. doi: 10.1080/00325481.1982.11716293. PMID: 7145781

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