FSGS9
MCID: FCL055
MIFTS: 30

Focal Segmental Glomerulosclerosis 9 (FSGS9)

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

Aliases & Classifications for Focal Segmental Glomerulosclerosis 9

MalaCards integrated aliases for Focal Segmental Glomerulosclerosis 9:

Name: Focal Segmental Glomerulosclerosis 9 57 12 72 29 6 15 70
Fsgs9 57 12 72
Glomerulosclerosis, Focal Segmental, 9 57 72
Glomerulosclerosis, Focal Segmental, Type 9 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in first decade


HPO:

31
focal segmental glomerulosclerosis 9:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111134
OMIM® 57 616220
OMIM Phenotypic Series 57 PS603278
MeSH 44 D005923
ICD10 32 N04.1
UMLS 70 C4015555

Summaries for Focal Segmental Glomerulosclerosis 9

UniProtKB/Swiss-Prot : 72 Focal segmental glomerulosclerosis 9: 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 9, also known as fsgs9, is related to pierson syndrome and oligomeganephronia. An important gene associated with Focal Segmental Glomerulosclerosis 9 is CRB2 (Crumbs Cell Polarity Complex Component 2), and among its related pathways/superpathways is Primary Focal Segmental Glomerulosclerosis FSGS. Affiliated tissues include kidney, and related phenotypes are nephrotic syndrome and focal segmental glomerulosclerosis

Disease Ontology : 12 A focal segmental glomerulosclerosis that has material basis in an autosomal recessive mutation of CRB2 on chromosome 9q33.3.

More information from OMIM: 616220 PS603278

Related Diseases for Focal Segmental Glomerulosclerosis 9

Graphical network of the top 20 diseases related to Focal Segmental Glomerulosclerosis 9:



Diseases related to Focal Segmental Glomerulosclerosis 9

Symptoms & Phenotypes for Focal Segmental Glomerulosclerosis 9

Human phenotypes related to Focal Segmental Glomerulosclerosis 9:

31
# Description HPO Frequency HPO Source Accession
1 nephrotic syndrome 31 HP:0000100
2 focal segmental glomerulosclerosis 31 HP:0000097

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Genitourinary Kidneys:
nephrotic syndrome
focal segmental glomerulosclerosis

Clinical features from OMIM®:

616220 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Focal Segmental Glomerulosclerosis 9 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 9

Search Clinical Trials , NIH Clinical Center for Focal Segmental Glomerulosclerosis 9

Genetic Tests for Focal Segmental Glomerulosclerosis 9

Genetic tests related to Focal Segmental Glomerulosclerosis 9:

# Genetic test Affiliating Genes
1 Focal Segmental Glomerulosclerosis 9 29 CRB2

Anatomical Context for Focal Segmental Glomerulosclerosis 9

MalaCards organs/tissues related to Focal Segmental Glomerulosclerosis 9:

40
Kidney

Publications for Focal Segmental Glomerulosclerosis 9

Articles related to Focal Segmental Glomerulosclerosis 9:

# Title Authors PMID Year
1
Defects of CRB2 cause steroid-resistant nephrotic syndrome. 57 6
25557779 2015
2
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players. 6
33532864 2021
3
[Expression of neonatal Fc receptor on human nephritis and rat nephritis models]. 61
22455882 2012
4
Prevalence of hepatitis C virus antibodies in primary glomerulonephritis in Brazil. 61
9845823 1998
5
Nephrotic syndrome in indian children. 61
973 1975

Variations for Focal Segmental Glomerulosclerosis 9

ClinVar genetic disease variations for Focal Segmental Glomerulosclerosis 9:

6 (show all 20)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CRB2 NM_173689.7(CRB2):c.1859G>C (p.Cys620Ser) SNV Pathogenic 180699 rs879255250 GRCh37: 9:126133191-126133191
GRCh38: 9:123370912-123370912
2 CRB2 NM_173689.7(CRB2):c.1882C>T (p.Arg628Cys) SNV Pathogenic 180700 rs202128397 GRCh37: 9:126133214-126133214
GRCh38: 9:123370935-123370935
3 CRB2 NM_173689.7(CRB2):c.3089_3104dup (p.Gly1036fs) Duplication Pathogenic 180701 rs879255251 GRCh37: 9:126135887-126135888
GRCh38: 9:123373608-123373609
4 CRB2 NM_173689.7(CRB2):c.1886G>C (p.Cys629Ser) SNV Pathogenic 180702 rs879255252 GRCh37: 9:126133218-126133218
GRCh38: 9:123370939-123370939
5 CRB2 NM_173689.7(CRB2):c.1827C>A (p.Cys609Ter) SNV Pathogenic 974481 GRCh37: 9:126133159-126133159
GRCh38: 9:123370880-123370880
6 CRB2 NM_173689.7(CRB2):c.1570_1571insCCTGGTGGAGG (p.Val524fs) Insertion Pathogenic 997479 GRCh37: 9:126132894-126132895
GRCh38: 9:123370615-123370616
7 CRB2 NM_173689.7(CRB2):c.823C>T (p.Arg275Ter) SNV Pathogenic 998393 GRCh37: 9:126129519-126129519
GRCh38: 9:123367240-123367240
8 CRB2 NM_173689.7(CRB2):c.3214C>T (p.Arg1072Cys) SNV Likely pathogenic 974518 GRCh37: 9:126136024-126136024
GRCh38: 9:123373745-123373745
9 CRB2 NM_173689.7(CRB2):c.47_53dup (p.Leu19fs) Duplication Likely pathogenic 829963 rs1588200023 GRCh37: 9:126118582-126118583
GRCh38: 9:123356303-123356304
10 CRB2 NM_173689.7(CRB2):c.3746G>A (p.Arg1249Gln) SNV Conflicting interpretations of pathogenicity 180703 rs147412276 GRCh37: 9:126139229-126139229
GRCh38: 9:123376950-123376950
11 CRB2 NM_173689.7(CRB2):c.1600C>T (p.Arg534Trp) SNV Uncertain significance 522524 rs759002273 GRCh37: 9:126132932-126132932
GRCh38: 9:123370653-123370653
12 CRB2 NM_173689.7(CRB2):c.3190C>T (p.Pro1064Ser) SNV Uncertain significance 522525 rs868484209 GRCh37: 9:126136000-126136000
GRCh38: 9:123373721-123373721
13 CRB2 NM_173689.7(CRB2):c.3559A>C (p.Thr1187Pro) SNV Uncertain significance 522526 rs1554785663 GRCh37: 9:126137548-126137548
GRCh38: 9:123375269-123375269
14 CRB2 NM_173689.7(CRB2):c.3613G>A (p.Gly1205Ser) SNV Uncertain significance 829899 rs779586424 GRCh37: 9:126137602-126137602
GRCh38: 9:123375323-123375323
15 CRB2 NM_173689.7(CRB2):c.1151G>T (p.Cys384Phe) SNV Uncertain significance 830021 rs1198089043 GRCh37: 9:126132483-126132483
GRCh38: 9:123370204-123370204
16 CRB2 NM_173689.7(CRB2):c.2314C>G (p.Leu772Val) SNV Uncertain significance 1027871 GRCh37: 9:126133735-126133735
GRCh38: 9:123371456-123371456
17 CRB2 NM_173689.7(CRB2):c.2914C>T (p.Arg972Cys) SNV Uncertain significance 1027872 GRCh37: 9:126135724-126135724
GRCh38: 9:123373445-123373445
18 CRB2 NM_173689.7(CRB2):c.38C>T (p.Ala13Val) SNV Uncertain significance 1027873 GRCh37: 9:126118577-126118577
GRCh38: 9:123356298-123356298
19 CRB2 NM_173689.7(CRB2):c.2741C>T (p.Ala914Val) SNV Uncertain significance 1033208 GRCh37: 9:126135551-126135551
GRCh38: 9:123373272-123373272
20 CRB2 NM_173689.7(CRB2):c.429C>T (p.Cys143=) SNV Uncertain significance 1033209 GRCh37: 9:126128206-126128206
GRCh38: 9:123365927-123365927

UniProtKB/Swiss-Prot genetic disease variations for Focal Segmental Glomerulosclerosis 9:

72
# Symbol AA change Variation ID SNP ID
1 CRB2 p.Cys620Ser VAR_073266 rs879255250
2 CRB2 p.Arg628Cys VAR_073267 rs202128397
3 CRB2 p.Cys629Ser VAR_073268 rs879255252
4 CRB2 p.Arg1249Gln VAR_073272 rs147412276

Expression for Focal Segmental Glomerulosclerosis 9

Search GEO for disease gene expression data for Focal Segmental Glomerulosclerosis 9.

Pathways for Focal Segmental Glomerulosclerosis 9

Pathways related to Focal Segmental Glomerulosclerosis 9 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.49 LAMB2 INF2

GO Terms for Focal Segmental Glomerulosclerosis 9

Cellular components related to Focal Segmental Glomerulosclerosis 9 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 9 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 9

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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