FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2

General Information (adopted from Orphanet):

Synonyms, Signs: GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 2
FSGS2
Number of Symptoms 4
OrphanetNr:
OMIM Id: 603965
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:0012622) Chronic kidney disease 32 / 7739
2
(HPO:0000100) Nephrotic syndrome 83 / 7739
3
(HPO:0000093) Proteinuria 169 / 7739
4
(HPO:0000097) Focal segmental glomerulosclerosis 37 / 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) (review by Meyrier, 2005).

...

Clinical Description OMIM Winn et al. (1999, 1999) reported a 399-member Caucasian kindred of British heritage dating back 7 generations from the south of New Zealand in which 14 deceased individuals had had ESRD, 14 living family members were on dialysis ...
Molecular genetics OMIM In affected members of the British family segregating FSGS linked to chromosome 11q21-q22 identified by Winn et al. (1999), Winn et al. (2005) identified a mutation in exon 2 of the TRPC2 gene that caused a missense change ...