MCID: FCL043
MIFTS: 21

Focal Segmental Glomerulosclerosis 6

Categories: Genetic 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 75 29 6 73
Fsgs6 57 12 75
Glomerulosclerosis, Focal Segmental, 6 57 13
Glomerulosclerosis, Segmental, Focal, Type 6 40

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:



Summaries for Focal Segmental Glomerulosclerosis 6

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)

Related Diseases for Focal Segmental Glomerulosclerosis 6

Symptoms & Phenotypes for Focal Segmental Glomerulosclerosis 6

Symptoms via clinical synopsis from OMIM:

57
Laboratory Abnormalities:
proteinuria
hematuria
hypoalbuminemia

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


Clinical features from OMIM:

614131

Human phenotypes related to Focal Segmental Glomerulosclerosis 6:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 proteinuria 32 HP:0000093
2 edema 32 HP:0000969
3 nephrotic syndrome 32 HP:0000100
4 hematuria 32 HP:0000790
5 hypoalbuminemia 32 HP:0003073
6 chronic kidney disease 32 HP:0012622
7 tubular atrophy 32 HP:0000092
8 focal segmental glomerulosclerosis 32 HP:0000097

UMLS symptoms related to Focal Segmental Glomerulosclerosis 6:


edema

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:

41
Kidney

Publications for Focal Segmental Glomerulosclerosis 6

Variations for Focal Segmental Glomerulosclerosis 6

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

75
# Symbol AA change Variation ID SNP ID
1 MYO1E p.Ala159Pro VAR_065958 rs387906807

ClinVar genetic disease variations for Focal Segmental Glomerulosclerosis 6:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MYO1E NM_004998.3(MYO1E): c.475G> C (p.Ala159Pro) single nucleotide variant Pathogenic rs387906807 GRCh37 Chromosome 15, 59523936: 59523936
2 MYO1E NM_004998.3(MYO1E): c.475G> C (p.Ala159Pro) single nucleotide variant Pathogenic rs387906807 GRCh38 Chromosome 15, 59231737: 59231737
3 MYO1E MYO1E, TYR695TER single nucleotide variant Pathogenic
4 MYO1E NM_004998.3(MYO1E): c.1311delC (p.Ile438Leufs) deletion Likely pathogenic GRCh37 Chromosome 15, 59502764: 59502764
5 MYO1E NM_004998.3(MYO1E): c.1311delC (p.Ile438Leufs) deletion Likely pathogenic GRCh38 Chromosome 15, 59210565: 59210565

Expression for Focal Segmental Glomerulosclerosis 6

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

Pathways for Focal Segmental Glomerulosclerosis 6

GO Terms for Focal Segmental Glomerulosclerosis 6

Sources for Focal Segmental Glomerulosclerosis 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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