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Condition report · Urological

Focal Segmental Glomerulosclerosis (FSGS)

A kidney disease characterized by the scarring of a portion (segmental) of some (focal) glomeruli, leading to proteinuria and progressive loss of kidney function.

A condition report looks for rare variants known to cause the conditions it covers.

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What your report covers

The 3 conditions we analyse

Focal Segmental Glomerulosclerosis

A renal disorder characterized by sclerotic lesions in the glomeruli. Causes include drugs, viruses, and malignancies (lymphomas), or it may be idiopathic. It presents with asymptomatic proteinuria or nephritic syndrome and it may lead to renal failure.

Genes analysed

Also known as

FGS (focal glomerular sclerosis); FSGS; FSGS - focal segmental glomerulosclerosis

Includes 11 related subtypes ↓
  • focal segmental glomerulosclerosis 1
  • focal segmental glomerulosclerosis 2
  • focal segmental glomerulosclerosis 5
  • focal segmental glomerulosclerosis 6
  • focal segmental glomerulosclerosis 7
  • focal segmental glomerulosclerosis 8
  • focal segmental glomerulosclerosis 9
  • HIV-associated nephropathy
  • inherited focal segmental glomerulosclerosis
  • nail-patella-like renal disease
  • primary focal segmental glomerulosclerosis
MONDO:0100313MedGen 4904

FSGS Susceptibility (APOL1)

Autosomal recessive

Two APOL1 risk variants (G1 or G2) markedly increase the risk of FSGS and other non-diabetic kidney disease, mainly in people with recent African ancestry; most people with this genotype never develop kidney disease.

What a diagnosis changes

Knowing can prompt blood pressure and kidney function monitoring and informs evaluation of living kidney donors.

Genes analysed

Also known as

APOL1 focal segmental glomerulosclerosis; focal segmental glomerulosclerosis caused by mutation in APOL1; FSGS4; glomerulosclerosis, focal segmental, 4, susceptibility to

MONDO:0012931OMIM 612551MedGen 390820

FSGS Susceptibility (CD2AP)

Variants in CD2AP increase susceptibility to focal segmental glomerulosclerosis, with incomplete penetrance.

What a diagnosis changes

Knowing can prompt periodic urine protein and kidney function checks.

Genes analysed

Also known as

CD2AP focal segmental glomerulosclerosis; focal segmental glomerulosclerosis caused by mutation in CD2AP; FSGS3; glomerulosclerosis, focal segmental, 3

MONDO:0011917OMIM 607832MedGen 335850

Other urological conditions

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