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FSGS6
MCID: FCL043
MIFTS: 35
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Focal Segmental Glomerulosclerosis 6 (FSGS6)
Categories:
Genetic diseases, Immune diseases, Nephrological diseases, Rare diseases
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MalaCards integrated aliases for Focal Segmental Glomerulosclerosis 6:
Characteristics:OMIM®:57 (Updated 05-Apr-2021)
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:31
focal segmental glomerulosclerosis 6:
Inheritance autosomal recessive inheritance Onset and clinical course progressive Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Nephrological diseases Immune diseases
ICD10:
32
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UniProtKB/Swiss-Prot :
72
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, also known as fsgs6, is related to hypoparathyroidism, sensorineural deafness, and renal disease and glomerular disease, and has symptoms including edema An important gene associated with Focal Segmental Glomerulosclerosis 6 is MYO1E (Myosin IE), and among its related pathways/superpathways are Amoebiasis and Primary Focal Segmental Glomerulosclerosis FSGS. Affiliated tissues include kidney, and related phenotypes are proteinuria and nephrotic syndrome 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) (Updated 05-Apr-2021) |
Human phenotypes related to Focal Segmental Glomerulosclerosis 6:31 (show all 8)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Apr-2021)Clinical features from OMIM®:614131 (Updated 05-Apr-2021)UMLS symptoms related to Focal Segmental Glomerulosclerosis 6:edema |
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MalaCards organs/tissues related to Focal Segmental Glomerulosclerosis 6:40
Kidney
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Articles related to Focal Segmental Glomerulosclerosis 6:
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Genes related to Focal Segmental Glomerulosclerosis 6 (2 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Focal Segmental Glomerulosclerosis 6:6
UniProtKB/Swiss-Prot genetic disease variations for Focal Segmental Glomerulosclerosis 6:72
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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:
Biological processes 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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