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familial focal segmental glomerulosclerosis
Pathology:
- see focal segmental glomerulosclerosis
Genetics:
- mutations of podocyte proteins [3]
- focal segmental glomerulosclerosis type 1 (FSGS1)
- autosomal dominant
- associated with mutations in alpha-actinin 4 gene
- in vitro the mutation alpha-actinin 4 binds F-actin more strongly than wild type
- focal segmental glomerulosclerosis type 2 (FSGS2)
- autosomal dominant
- defects in TRPC6 gene result in FSGS2
- focal segmental glomerulosclerosis type 3 (FSGS3)
- susceptibility to FSGS3 associated with defects in CD2AP gene
- focal segmental glomerulosclerosis type 4
- autsomal recessive
- associated with defects in APOL1
- often progresses to end-stage renal disease
- focal segmental glomerulosclerosis type 6 (FSGS6)
- associated with defects in MYO1E
- childhood-onset nephrotic syndrome
Clinical manifestations:
- see focal segmental glomerulosclerosis
Interactions
disease interactions
General
focal segmental glomerulosclerosis (FSGS)
genetic disease of the kidney
Database Correlations
OMIM correlations
MORBIDMAP 604638
References
- Kaplan JM et al.
Mutations in ACTN4, encoding alpha-actinin-4, cause familial
focal segmental glomerulosclerosis.
Nature Genetics 24:251-6, 2000
PMID: 10700177
- OMIM :accesson 603965
- Medical Knowledge Self Assessment Program (MKSAP) 17, 19
American College of Physicians, Philadelphia 2015, 2021