MCID: FCL053
MIFTS: 19

Focal Segmental Glomerulosclerosis 8

Categories: Genetic 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 75 29 6 73
Fsgs8 57 12 75
Glomerulosclerosis, Focal Segmental, Type 8 40
Glomerulosclerosis, Focal Segmental, 8 57

Characteristics:

OMIM:

57
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:

32
focal segmental glomerulosclerosis 8:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 616032
Disease Ontology 12 DOID:0111133
ICD10 33 N04.1
MeSH 44 D005923
UMLS 73 C4014993

Summaries for Focal Segmental Glomerulosclerosis 8

UniProtKB/Swiss-Prot : 75 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, is also known as fsgs8. An important gene associated with Focal Segmental Glomerulosclerosis 8 is ANLN (Anillin Actin Binding Protein). Affiliated tissues include kidney, and related phenotypes are proteinuria and focal segmental glomerulosclerosis

Disease Ontology : 12 A focal segmental glomerulosclerosis that has material basis in an autosomal dominant mutation of ANLN on chromosome 7p14.2.

Description from OMIM: 616032

Related Diseases for Focal Segmental Glomerulosclerosis 8

Symptoms & Phenotypes for Focal Segmental Glomerulosclerosis 8

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Kidneys:
nephrotic syndrome
focal segmental glomerulosclerosis
end-stage renal disease

Laboratory Abnormalities:
proteinuria


Clinical features from OMIM:

616032

Human phenotypes related to Focal Segmental Glomerulosclerosis 8:

32
# Description HPO Frequency HPO Source Accession
1 proteinuria 32 HP:0000093
2 focal segmental glomerulosclerosis 32 HP:0000097
3 nephrotic syndrome 32 HP:0000100
4 stage 5 chronic kidney disease 32 HP:0003774

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:

41
Kidney

Publications for Focal Segmental Glomerulosclerosis 8

Variations for Focal Segmental Glomerulosclerosis 8

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

75
# Symbol AA change Variation ID SNP ID
1 ANLN p.Arg431Cys VAR_072418 rs587777741
2 ANLN p.Gly618Cys VAR_072419

ClinVar genetic disease variations for Focal Segmental Glomerulosclerosis 8:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ANLN NM_018685.4(ANLN): c.1291C> T (p.Arg431Cys) single nucleotide variant Pathogenic rs587777741 GRCh38 Chromosome 7, 36411062: 36411062
2 ANLN NM_018685.4(ANLN): c.1291C> T (p.Arg431Cys) single nucleotide variant Pathogenic rs587777741 GRCh37 Chromosome 7, 36450671: 36450671
3 ANLN NM_018685.4(ANLN): c.1852G> T (p.Gly618Cys) single nucleotide variant Pathogenic GRCh38 Chromosome 7, 36419462: 36419462
4 ANLN NM_018685.4(ANLN): c.1852G> T (p.Gly618Cys) single nucleotide variant Pathogenic GRCh37 Chromosome 7, 36459071: 36459071
5 ANLN NM_018685.4(ANLN): c.1138C> T (p.Arg380Cys) single nucleotide variant Uncertain significance rs201613256 GRCh37 Chromosome 7, 36450164: 36450164
6 ANLN NM_018685.4(ANLN): c.1138C> T (p.Arg380Cys) single nucleotide variant Uncertain significance rs201613256 GRCh38 Chromosome 7, 36410555: 36410555

Expression for Focal Segmental Glomerulosclerosis 8

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

Pathways for Focal Segmental Glomerulosclerosis 8

GO Terms for Focal Segmental Glomerulosclerosis 8

Sources for Focal Segmental Glomerulosclerosis 8

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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