Human Gene Set: HP_DIFFUSE_MESANGIAL_SCLEROSIS


Standard name HP_DIFFUSE_MESANGIAL_SCLEROSIS
Systematic name M48700
Brief description Diffuse mesangial sclerosis
Full description or abstract Thickening and scarring (sclerosis) of the mesangium (a structure in the glomerulus). The sclerosis affects a large portion of the mesangium across multiple glomeruli. Histologic features include an increase in the mesangial matrix, thickened glomerular basement membrane, tubular casts, and interstitial inflammation. Diffuse mesangial sclerosis presents with nephrotic syndrome at birth or within the first year of life. Glomeruli are small and condensed in appearance, with early lesions showing increased loose mesangial collagen that progress to sclerosis with dense collagen without hypercellularity. Podocytes do not show hyperplasia but may be immature and cobblestone-like. Electron microscopy shows extensive foot process effacement without deposits, but increased collagen within mesangial areas. [https://orcid.org/0000-0002-0736-9199, PMID:26408240]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0001967
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External links https://hpo.jax.org/app/browse/term/HP:0001967
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Source species Homo sapiens
Contributed by Human Phenotype Ontology Group (The Jackson Laboratory (JAX))
Source platform or
identifier namespace		 Human_NCBI_Gene_ID
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Version history 2025.1.Hs: Updated to HPO Release 2025-05-06.

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