FSGS8
MCID: FCL053
MIFTS: 29

Focal Segmental Glomerulosclerosis 8 (FSGS8)

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

Aliases & Classifications for Focal Segmental Glomerulosclerosis 8

MalaCards integrated aliases for Focal Segmental Glomerulosclerosis 8:

Name: Focal Segmental Glomerulosclerosis 8 57 12 72 29 6 15 70
Fsgs8 57 12 72
Glomerulosclerosis, Focal Segmental, Type 8 39
Glomerulosclerosis, Focal Segmental, 8 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
highly variable age at onset (range 9 to 69 years)
two unrelated families have been reported (last curated september 2014)


HPO:

31
focal segmental glomerulosclerosis 8:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111133
OMIM® 57 616032
OMIM Phenotypic Series 57 PS603278
MeSH 44 D005923
ICD10 32 N04.1
UMLS 70 C4014993

Summaries for Focal Segmental Glomerulosclerosis 8

UniProtKB/Swiss-Prot : 72 Focal segmental glomerulosclerosis 8: 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.

MalaCards based summary : Focal Segmental Glomerulosclerosis 8, also known as fsgs8, is related to pierson syndrome and oligomeganephronia. An important gene associated with Focal Segmental Glomerulosclerosis 8 is ANLN (Anillin Actin Binding Protein), and among its related pathways/superpathways is 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 dominant mutation of ANLN on chromosome 7p14.2.

More information from OMIM: 616032 PS603278

Related Diseases for Focal Segmental Glomerulosclerosis 8

Graphical network of the top 20 diseases related to Focal Segmental Glomerulosclerosis 8:



Diseases related to Focal Segmental Glomerulosclerosis 8

Symptoms & Phenotypes for Focal Segmental Glomerulosclerosis 8

Human phenotypes related to Focal Segmental Glomerulosclerosis 8:

31
# Description HPO Frequency HPO Source Accession
1 proteinuria 31 HP:0000093
2 nephrotic syndrome 31 HP:0000100
3 stage 5 chronic kidney disease 31 HP:0003774
4 focal segmental glomerulosclerosis 31 HP:0000097

Symptoms via clinical synopsis from OMIM®:

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

Genitourinary Kidneys:
nephrotic syndrome
focal segmental glomerulosclerosis
end-stage renal disease

Clinical features from OMIM®:

616032 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Focal Segmental Glomerulosclerosis 8 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability GR00386-A-1 8.62 CRB2 EMP2

Drugs & Therapeutics for Focal Segmental Glomerulosclerosis 8

Search Clinical Trials , NIH Clinical Center for Focal Segmental Glomerulosclerosis 8

Genetic Tests for Focal Segmental Glomerulosclerosis 8

Genetic tests related to Focal Segmental Glomerulosclerosis 8:

# Genetic test Affiliating Genes
1 Focal Segmental Glomerulosclerosis 8 29 ANLN

Anatomical Context for Focal Segmental Glomerulosclerosis 8

MalaCards organs/tissues related to Focal Segmental Glomerulosclerosis 8:

40
Kidney

Publications for Focal Segmental Glomerulosclerosis 8

Articles related to Focal Segmental Glomerulosclerosis 8:

# Title Authors PMID Year
1
Mutations in the gene that encodes the F-actin binding protein anillin cause FSGS. 6 57
24676636 2014
2
Long-Term Outcomes in Children with Steroid-Resistant Nephrotic Syndrome Treated with Calcineurin Inhibitors. 61
26640779 2015
3
[Glomerulopathies as causes of end-stage renal disease in children]. 61
19580193 2009

Variations for Focal Segmental Glomerulosclerosis 8

ClinVar genetic disease variations for Focal Segmental Glomerulosclerosis 8:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ANLN NM_018685.5(ANLN):c.1291C>T (p.Arg431Cys) SNV Pathogenic 156221 rs587777741 GRCh37: 7:36450671-36450671
GRCh38: 7:36411062-36411062
2 ANLN NM_018685.5(ANLN):c.1852G>T (p.Gly618Cys) SNV Pathogenic 156222 rs1184529372 GRCh37: 7:36459071-36459071
GRCh38: 7:36419462-36419462
3 ANLN NM_018685.5(ANLN):c.2803C>T (p.Arg935Ter) SNV Pathogenic 1033495 GRCh37: 7:36466557-36466557
GRCh38: 7:36426948-36426948
4 ANLN NM_018685.5(ANLN):c.1979A>G (p.Asp660Gly) SNV Uncertain significance 1029710 GRCh37: 7:36459887-36459887
GRCh38: 7:36420278-36420278
5 ANLN NM_018685.5(ANLN):c.1138C>T (p.Arg380Cys) SNV Uncertain significance 266013 rs201613256 GRCh37: 7:36450164-36450164
GRCh38: 7:36410555-36410555
6 ANLN NM_018685.5(ANLN):c.31C>T (p.Arg11Ter) SNV Uncertain significance 599127 rs200989750 GRCh37: 7:36435887-36435887
GRCh38: 7:36396278-36396278
7 ANLN NM_018685.5(ANLN):c.524C>T (p.Pro175Leu) SNV Uncertain significance 635470 rs148482760 GRCh37: 7:36445826-36445826
GRCh38: 7:36406217-36406217
8 ANLN NM_018685.5(ANLN):c.191C>G (p.Pro64Arg) SNV Uncertain significance 829977 rs200238245 GRCh37: 7:36438706-36438706
GRCh38: 7:36399097-36399097
9 ANLN NM_018685.5(ANLN):c.2405del (p.Gly802fs) Deletion Uncertain significance 977796 GRCh37: 7:36462346-36462346
GRCh38: 7:36422737-36422737
10 ANLN NM_018685.5(ANLN):c.2385T>A (p.Ser795Arg) SNV Likely benign 693991 rs148319769 GRCh37: 7:36462327-36462327
GRCh38: 7:36422718-36422718

UniProtKB/Swiss-Prot genetic disease variations for Focal Segmental Glomerulosclerosis 8:

72
# Symbol AA change Variation ID SNP ID
1 ANLN p.Arg431Cys VAR_072418 rs587777741
2 ANLN p.Gly618Cys VAR_072419 rs118452937

Expression for Focal Segmental Glomerulosclerosis 8

Search GEO for disease gene expression data for Focal Segmental Glomerulosclerosis 8.

Pathways for Focal Segmental Glomerulosclerosis 8

Pathways related to Focal Segmental Glomerulosclerosis 8 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.49 LAMB2 INF2

GO Terms for Focal Segmental Glomerulosclerosis 8

Cellular components related to Focal Segmental Glomerulosclerosis 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apical part of cell GO:0045177 8.62 EMP2 CRB2

Molecular functions related to Focal Segmental Glomerulosclerosis 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 8.62 LAMB2 EMP2

Sources for Focal Segmental Glomerulosclerosis 8

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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