FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1

General Information (adopted from Orphanet):

Synonyms, Signs: GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1
FSGS1
Number of Symptoms 5
OrphanetNr:
OMIM Id: 603278
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:0000093) Proteinuria 169 / 7739
2
(HPO:0000097) Focal segmental glomerulosclerosis obligate [HPO:skoehler] 37 / 7739
3
(HPO:0000969) Edema 117 / 7739
4
(HPO:0003077) Hyperlipidemia 37 / 7739
5
(HPO:0003073) Hypoalbuminemia 40 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Focal segmental glomerulosclerosis (FSGS) is a pathologic finding in several renal disorders that manifest clinically as proteinuria and progressive decline in renal function. Some patients with FSGS develop the clinical entity called 'nephrotic syndrome' (see NPHS1; 256300), which ...
Clinical Description OMIM Mathis et al. (1992) reported a large family with variable expression of a glomerular disease associated with asymptomatic proteinuria and normal renal function (7 patients) or significant proteinuria leading to progressive renal failure (11 patients). Histopathologic changes were ...
Molecular genetics OMIM In 3 families with clear evidence of autosomal dominant inheritance of FSGS, including the family reported by Mathis et al. (1992, 1998), Kaplan et al. (2000) identified heterozygous mutations in the ACTN4 gene (604638.0001-604638.0003). They also analyzed the ...