FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO

General Information (adopted from Orphanet):

Synonyms, Signs: END-STAGE RENAL DISEASE, NONDIABETIC, SUSCEPTIBILITY TO, INCLUDED
FSGS4
Number of Symptoms 3
OrphanetNr:
OMIM Id: 612551
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Polygenic inheritance
[Omim]
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:0003774) Stage 5 chronic kidney disease 78 / 7739
3
(HPO:0010982) Polygenic inheritance 14 / 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 ...

Molecular genetics OMIM Although genetic variation in or near the MYH9 gene on chromosome 22 was associated with increased risk of FSGS, causal mutations in MHY9 had not been identified. Genomewide analyses showed a strong signal of natural selection in the ...