Trait
Diffuse mesangial sclerosis
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.
Summary
- Also called
- Diffuse mesangial sclerosis glomerulopathy, Mesangial sclerosis
- Body system
- Abnormality of the genitourinary system
Reference genomeGRCh38hg38
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Get my Genome Test42 genes linked to Diffuse mesangial sclerosis
Changes in these genes cause rare conditions in which Diffuse mesangial sclerosis is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| ARHGDIARho GDP dissociation inhibitor alpha | Always | In 2 conditions |
| AVILadvillin | Always | In 2 conditions |
| LAMB2laminin subunit beta 2 | Always | In 3 conditions |
| WT1WT1 transcription factor | Always | In 3 conditions |
| YRDCyrdC N6-threonylcarbamoyltransferase domain containing | Always | In 1 condition |
| PLCE1phospholipase C epsilon 1 | Very often (80–99%) | In 2 conditions |
| ACTN4actinin alpha 4 | Sometimes (5–29%) | In 1 condition |
| ANKFY1ankyrin repeat and FYVE domain containing 1 | Sometimes (5–29%) | In 1 condition |
| ANLNanillin, actin binding protein | Sometimes (5–29%) | In 1 condition |
| APOL1apolipoprotein L1 | Sometimes (5–29%) | In 1 condition |
| ARHGAP24Rho GTPase activating protein 24 | Sometimes (5–29%) | In 1 condition |
| CD2APCD2 associated protein | Sometimes (5–29%) | In 1 condition |
| COL4A3collagen type IV alpha 3 chain | Sometimes (5–29%) | In 1 condition |
| COQ6coenzyme Q6, monooxygenase | Sometimes (5–29%) | In 1 condition |
| COQ8Bcoenzyme Q8B | Sometimes (5–29%) | In 1 condition |
| CRB2crumbs cell polarity complex component 2 | Sometimes (5–29%) | In 1 condition |
| DAAM2dishevelled associated activator of morphogenesis 2 | Sometimes (5–29%) | In 1 condition |
| EMP2epithelial membrane protein 2 | Sometimes (5–29%) | In 1 condition |
| GAPVD1GTPase activating protein and VPS9 domains 1 | Sometimes (5–29%) | In 1 condition |
| INF2inverted formin 2 | Sometimes (5–29%) | In 1 condition |
| KANK2KN motif and ankyrin repeat domains 2 | Sometimes (5–29%) | In 1 condition |
| LAMA5laminin subunit alpha 5 | Sometimes (5–29%) | In 1 condition |
| MAGI2membrane associated guanylate kinase, WW and PDZ domain containing 2 | Sometimes (5–29%) | In 1 condition |
| MYO1Emyosin IE | Sometimes (5–29%) | In 1 condition |
| NPHS1NPHS1 adhesion molecule, nephrin | Sometimes (5–29%) | In 2 conditions |
| NPHS2NPHS2 stomatin family member, podocin | Sometimes (5–29%) | In 1 condition |
| NUP107nucleoporin 107 | Sometimes (5–29%) | In 3 conditions |
| NUP133nucleoporin 133 | Sometimes (5–29%) | In 1 condition |
| NUP160nucleoporin 160 | Sometimes (5–29%) | In 1 condition |
| NUP205nucleoporin 205 | Sometimes (5–29%) | In 1 condition |
| NUP37nucleoporin 37 | Sometimes (5–29%) | In 1 condition |
| NUP85nucleoporin 85 | Sometimes (5–29%) | In 1 condition |
| NUP93nucleoporin 93 | Sometimes (5–29%) | In 2 conditions |
| PAX2paired box 2 | Sometimes (5–29%) | In 1 condition |
| PTPROprotein tyrosine phosphatase receptor type O | Sometimes (5–29%) | In 1 condition |
| TBC1D8BTBC1 domain family member 8B | Sometimes (5–29%) | In 1 condition |
| TP53RKTP53 regulating kinase | Sometimes (5–29%) | In 1 condition |
| TRPC6transient receptor potential cation channel subfamily C member 6 | Sometimes (5–29%) | In 1 condition |
| ADAadenosine deaminase | Not recorded | In 1 condition |
| OSGEPO-sialoglycoprotein endopeptidase | Not recorded | In 1 condition |
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How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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