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FSGS6
MCID: FCL043
MIFTS: 23
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Focal Segmental Glomerulosclerosis 6 (FSGS6)
Categories:
Genetic diseases, Nephrological diseases, Rare diseases
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MalaCards integrated aliases for Focal Segmental Glomerulosclerosis 6:
Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
progressive disorder onset in childhood (range 1 to 9 years) two unrelated families have been reported (as of july 2011) poor or no response to glucocorticoid treatment HPO:32
focal segmental glomerulosclerosis 6:
Onset and clinical course progressive Inheritance autosomal recessive inheritance Classifications:
ICD10:
33
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UniProtKB/Swiss-Prot
:
75
Focal segmental glomerulosclerosis 6: A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. FSGS6 is a childhood-onset disorder resulting in nephrotic syndrome, which includes massive proteinuria, hypoalbuminemia, hyperlipidemia, and edema.
MalaCards based summary : Focal Segmental Glomerulosclerosis 6, is also known as fsgs6, and has symptoms including edema An important gene associated with Focal Segmental Glomerulosclerosis 6 is MYO1E (Myosin IE). Affiliated tissues include kidney, and related phenotypes are proteinuria and edema Disease Ontology : 12 A focal segmental glomerulosclerosis that has material basis in an autosomal recessive mutation of MYO1E on chromosome 15q22.2. OMIM : 57 Focal segmental glomerulosclerosis-6 is an autosomal recessive childhood-onset kidney disorder manifest clinically by the nephrotic syndrome, which is characterized by proteinuria, hematuria, hypoalbuminemia, and progressive renal failure. It is a disease of the glomerular podocyte (summary by Mele et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome, see FSGS1 (603278). (614131) |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:614131Human phenotypes related to Focal Segmental Glomerulosclerosis 6:32 (show all 8)
UMLS symptoms related to Focal Segmental Glomerulosclerosis 6:edema |
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MalaCards organs/tissues related to Focal Segmental Glomerulosclerosis 6:41
Kidney
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Genes related to Focal Segmental Glomerulosclerosis 6 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Focal Segmental Glomerulosclerosis 6:75
ClinVar genetic disease variations for Focal Segmental Glomerulosclerosis 6:6
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Search
GEO
for disease gene expression data for Focal Segmental Glomerulosclerosis 6.
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Cellular components related to Focal Segmental Glomerulosclerosis 6 according to GeneCards Suite gene sharing:
Molecular functions related to Focal Segmental Glomerulosclerosis 6 according to GeneCards Suite gene sharing:
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