FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5

General Information (adopted from Orphanet):

Synonyms, Signs: GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 5
FSGS5
Number of Symptoms 2
OrphanetNr:
OMIM Id: 613237
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000097) Focal segmental glomerulosclerosis 37 / 7739
2
(HPO:0000100) Nephrotic syndrome 83 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Focal segmental glomerulosclerosis (FSGS) is a pathologic entity associated clinically with proteinuria, the nephrotic syndrome (NPHS), and progressive loss of renal function. It is a common cause of end-stage renal disease (ESRD) (Meyrier, 2005).

Dominant intermediate ...

Clinical Description OMIM Brown et al. (2010) studied 11 families with focal segmental glomerulosclerosis in which affected individuals displayed shared features, including onset of disease in adolescence or adulthood and proteinuria that was typically moderate. Microscopic hematuria and hypertension were seen ...
Molecular genetics OMIM In 2 large families segregating autosomal dominant FSGS mapping to chromosome 14q32, Brown et al. (2010) sequenced 15 candidate genes and identified heterozygous missense mutations in the INF2 gene (610982) that segregated with disease (610982.0001 and 610982.0002) in ...