FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO

General Information (adopted from Orphanet):

Synonyms, Signs: GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 3, SUSCEPTIBILITY TO
FSGS3
Number of Symptoms 5
OrphanetNr:
OMIM Id: 607832
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 17713465 IBIS 37 / 7739
2
(HPO:0000083) Renal insufficiency 17713465 IBIS 232 / 7739
3
(HPO:0000790) Hematuria 17713465 IBIS 106 / 7739
4
(HPO:0000093) Proteinuria 17713465 IBIS 169 / 7739
5
(HPO:0000822) Hypertension 17713465 IBIS 224 / 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).

For a ...

Clinical Description OMIM Lowik et al. (2007) reported a boy with severe early-onset nephrotic syndrome associated with FSGS who was born of consanguineous parents of Mediterranean ancestry. At age 10 months, he showed failure to thrive, proteinuria, microscopic hematuria, and anemia. ...
Molecular genetics OMIM Kim et al. (2003) found that mice with haploinsufficiency for CD2AP exhibit a phenotype similar to human FSGS. They screened a study population of 30 African Americans with idiopathic FSGS as well as 15 African Americans with HIV-associated ...