FSGS6
MCID: FCL043
MIFTS: 35

Focal Segmental Glomerulosclerosis 6 (FSGS6)

Categories: Genetic diseases, Immune diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Focal Segmental Glomerulosclerosis 6

MalaCards integrated aliases for Focal Segmental Glomerulosclerosis 6:

Name: Focal Segmental Glomerulosclerosis 6 57 12 72 29 6 15 70
Fsgs6 57 12 72
Glomerulosclerosis, Focal Segmental, 6 57 13
Glomerulosclerosis, Segmental, Focal, Type 6 39

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:



External Ids:

Disease Ontology 12 DOID:0111131
OMIM® 57 614131
OMIM Phenotypic Series 57 PS603278
MeSH 44 D005923
ICD10 32 N04.1
MedGen 41 C3279905
UMLS 70 C3279905

Summaries for Focal Segmental Glomerulosclerosis 6

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)

Related Diseases for Focal Segmental Glomerulosclerosis 6

Diseases in the Focal Segmental Glomerulosclerosis family:

Focal Segmental Glomerulosclerosis 10 Focal Segmental Glomerulosclerosis 1
Focal Segmental Glomerulosclerosis 2 Focal Segmental Glomerulosclerosis 3
Focal Segmental Glomerulosclerosis 4 Focal Segmental Glomerulosclerosis 5
Focal Segmental Glomerulosclerosis 6 Focal Segmental Glomerulosclerosis 7
Focal Segmental Glomerulosclerosis 8 Focal Segmental Glomerulosclerosis 9

Diseases related to Focal Segmental Glomerulosclerosis 6 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 25)
# Related Disease Score Top Affiliating Genes
1 hypoparathyroidism, sensorineural deafness, and renal disease 9.7 LAMB2 ACTN4
2 glomerular disease 9.7 CD2AP ACTN4
3 nephrotic syndrome, type 1 9.5 CD2AP ACTN4
4 focal segmental glomerulosclerosis 8 9.5 LAMB2 INF2 CRB2 COQ8B
5 focal segmental glomerulosclerosis 7 9.5 LAMB2 INF2 CRB2 COQ8B
6 focal segmental glomerulosclerosis 9 9.5 LAMB2 INF2 CRB2 COQ8B
7 nephrotic syndrome, type 2 9.5 INF2 CD2AP ACTN4
8 proteinuria, chronic benign 9.5 INF2 CD2AP ACTN4
9 nail-patella syndrome 9.4 INF2 CD2AP ACTN4
10 denys-drash syndrome 9.4 INF2 CD2AP ACTN4
11 lipoid nephrosis 9.4 CD2AP ACTN4
12 end stage renal disease 9.4 INF2 CD2AP ACTN4
13 pierson syndrome 9.3 LAMB2 INF2 CD2AP ACTN4
14 galloway-mowat syndrome 9.2 LAMB2 INF2 CD2AP ACTN4
15 oligomeganephronia 9.2 INF2 COQ8B CD2AP ACTN4
16 frasier syndrome 9.2 INF2 COQ8B CD2AP ACTN4
17 kidney disease 9.0 INF2 CRB2 CD2AP ACTN4
18 focal segmental glomerulosclerosis 5 9.0 LAMB2 INF2 COQ8B CD2AP ACTN4
19 focal segmental glomerulosclerosis 2 9.0 LAMB2 INF2 CRB2 CD2AP ACTN4
20 alport syndrome 8.8 MYO1E LAMB2 INF2 COQ8B CD2AP ACTN4
21 familial nephrotic syndrome 8.8 MYO1E INF2 CRB2 COQ8B CD2AP ACTN4
22 genetic steroid-resistant nephrotic syndrome 8.6 MYO1E LDHAL6B INF2 CRB2 COQ8B CD2AP
23 focal segmental glomerulosclerosis 1 8.6 MYO1E LAMB2 INF2 CRB2 COQ8B CD2AP
24 focal segmental glomerulosclerosis 8.6 MYO1E LAMB2 INF2 CRB2 COQ8B CD2AP
25 nephrotic syndrome 8.5 MYO1E LAMB2 INF2 CRB2 COQ8B CD2AP

Graphical network of the top 20 diseases related to Focal Segmental Glomerulosclerosis 6:



Diseases related to Focal Segmental Glomerulosclerosis 6

Symptoms & Phenotypes for Focal Segmental Glomerulosclerosis 6

Human phenotypes related to Focal Segmental Glomerulosclerosis 6:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 proteinuria 31 HP:0000093
2 nephrotic syndrome 31 HP:0000100
3 hematuria 31 HP:0000790
4 hypoalbuminemia 31 HP:0003073
5 edema 31 HP:0000969
6 chronic kidney disease 31 HP:0012622
7 renal tubular atrophy 31 HP:0000092
8 focal segmental glomerulosclerosis 31 HP:0000097

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Laboratory Abnormalities:
proteinuria
hematuria
hypoalbuminemia

Muscle Soft Tissue:
edema

Genitourinary Kidneys:
nephrotic syndrome
focal segmental glomerulosclerosis
renal failure, progressive
tubular atrophy
mesangial hyperplasia
more

Clinical features from OMIM®:

614131 (Updated 05-Apr-2021)

UMLS symptoms related to Focal Segmental Glomerulosclerosis 6:


edema

MGI Mouse Phenotypes related to Focal Segmental Glomerulosclerosis 6:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.02 ACTN4 CD2AP COQ8B LAMB2 MYO1E

Drugs & Therapeutics for Focal Segmental Glomerulosclerosis 6

Search Clinical Trials , NIH Clinical Center for Focal Segmental Glomerulosclerosis 6

Genetic Tests for Focal Segmental Glomerulosclerosis 6

Genetic tests related to Focal Segmental Glomerulosclerosis 6:

# Genetic test Affiliating Genes
1 Focal Segmental Glomerulosclerosis 6 29 MYO1E

Anatomical Context for Focal Segmental Glomerulosclerosis 6

MalaCards organs/tissues related to Focal Segmental Glomerulosclerosis 6:

40
Kidney

Publications for Focal Segmental Glomerulosclerosis 6

Articles related to Focal Segmental Glomerulosclerosis 6:

# Title Authors PMID Year
1
MYO1E mutations and childhood familial focal segmental glomerulosclerosis. 6 57
21756023 2011
2
Disruption of Myosin 1e promotes podocyte injury. 57
19005011 2009
3
Immune-complex glomerulonephritis in cats: a retrospective study based on clinico-pathological data, histopathology and ultrastructural features. 61
31429743 2019
4
Overproduction of Mitochondrial Fission Proteins in Membranous Nephropathy in Children. 61
30566949 2018

Variations for Focal Segmental Glomerulosclerosis 6

ClinVar genetic disease variations for Focal Segmental Glomerulosclerosis 6:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MYO1E NM_004998.4(MYO1E):c.475G>C (p.Ala159Pro) SNV Pathogenic 30191 rs387906807 GRCh37: 15:59523936-59523936
GRCh38: 15:59231737-59231737
2 MYO1E NM_004998.4(MYO1E):c.2085T>G (p.Tyr695Ter) SNV Pathogenic 30192 rs778868018 GRCh37: 15:59466404-59466404
GRCh38: 15:59174205-59174205
3 MYO1E NM_004998.4(MYO1E):c.2908C>T (p.Gln970Ter) SNV Pathogenic 974435 GRCh37: 15:59445961-59445961
GRCh38: 15:59153762-59153762
4 LDHAL6B , MYO1E NM_004998.4(MYO1E):c.1530+1127dup Duplication Pathogenic 1032284 GRCh37: 15:59499748-59499749
GRCh38: 15:59207549-59207550
5 MYO1E NM_004998.4(MYO1E):c.2060T>C (p.Leu687Ser) SNV Likely pathogenic 807636 rs1596351849 GRCh37: 15:59466429-59466429
GRCh38: 15:59174230-59174230
6 MYO1E NM_004998.4(MYO1E):c.2481-12A>G SNV Likely pathogenic 974434 GRCh37: 15:59455514-59455514
GRCh38: 15:59163315-59163315
7 MYO1E NM_004998.4(MYO1E):c.332+8G>A SNV Uncertain significance 983002 GRCh37: 15:59548475-59548475
GRCh38: 15:59256276-59256276
8 MYO1E NM_004998.4(MYO1E):c.2627C>G (p.Thr876Arg) SNV Uncertain significance 871066 GRCh37: 15:59455356-59455356
GRCh38: 15:59163157-59163157

UniProtKB/Swiss-Prot genetic disease variations for Focal Segmental Glomerulosclerosis 6:

72
# Symbol AA change Variation ID SNP ID
1 MYO1E p.Ala159Pro VAR_065958 rs387906807

Expression for Focal Segmental Glomerulosclerosis 6

Search GEO for disease gene expression data for Focal Segmental Glomerulosclerosis 6.

Pathways for Focal Segmental Glomerulosclerosis 6

Pathways related to Focal Segmental Glomerulosclerosis 6 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.16 LAMB2 ACTN4
2 10.89 MYO1E LAMB2 INF2 CD2AP ACTN4
3 10.3 CD2AP ACTN4

GO Terms for Focal Segmental Glomerulosclerosis 6

Cellular components related to Focal Segmental Glomerulosclerosis 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.55 MYO1E LAMB2 CRB2 CD2AP ACTN4
2 cell junction GO:0030054 9.26 MYO1E CRB2 CD2AP ACTN4
3 actin cytoskeleton GO:0015629 8.8 MYO1E CD2AP ACTN4

Biological processes related to Focal Segmental Glomerulosclerosis 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 vesicle transport along actin filament GO:0030050 8.62 MYO1E ACTN4

Molecular functions related to Focal Segmental Glomerulosclerosis 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex binding GO:0044877 9.13 CRB2 CD2AP ACTN4
2 actin binding GO:0003779 8.8 MYO1E INF2 ACTN4

Sources for Focal Segmental Glomerulosclerosis 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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