MCID: FCL055
MIFTS: 18

Focal Segmental Glomerulosclerosis 9

Categories: Genetic 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 75 29 6 73
Fsgs9 57 12 75
Glomerulosclerosis, Focal Segmental, 9 57 75
Glomerulosclerosis, Focal Segmental, Type 9 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in first decade


HPO:

32
focal segmental glomerulosclerosis 9:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 616220
Disease Ontology 12 DOID:0111134
ICD10 33 N04.1
MeSH 44 D005923
UMLS 73 C4015555

Summaries for Focal Segmental Glomerulosclerosis 9

UniProtKB/Swiss-Prot : 75 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, is also known as fsgs9. An important gene associated with Focal Segmental Glomerulosclerosis 9 is CRB2 (Crumbs 2, Cell Polarity Complex Component). Affiliated tissues include kidney, and related phenotypes are focal segmental glomerulosclerosis and nephrotic syndrome

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

Description from OMIM: 616220

Related Diseases for Focal Segmental Glomerulosclerosis 9

Symptoms & Phenotypes for Focal Segmental Glomerulosclerosis 9

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Kidneys:
nephrotic syndrome
focal segmental glomerulosclerosis


Clinical features from OMIM:

616220

Human phenotypes related to Focal Segmental Glomerulosclerosis 9:

32
# Description HPO Frequency HPO Source Accession
1 focal segmental glomerulosclerosis 32 HP:0000097
2 nephrotic syndrome 32 HP:0000100

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:

41
Kidney

Publications for Focal Segmental Glomerulosclerosis 9

Variations for Focal Segmental Glomerulosclerosis 9

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

75
# 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

ClinVar genetic disease variations for Focal Segmental Glomerulosclerosis 9:

6
(show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 CRB2 NM_173689.6(CRB2): c.1859G> C (p.Cys620Ser) single nucleotide variant Pathogenic rs879255250 GRCh37 Chromosome 9, 126133191: 126133191
2 CRB2 NM_173689.6(CRB2): c.1859G> C (p.Cys620Ser) single nucleotide variant Pathogenic rs879255250 GRCh38 Chromosome 9, 123370912: 123370912
3 CRB2 NM_173689.6(CRB2): c.1882C> T (p.Arg628Cys) single nucleotide variant Pathogenic rs202128397 GRCh38 Chromosome 9, 123370935: 123370935
4 CRB2 NM_173689.6(CRB2): c.1882C> T (p.Arg628Cys) single nucleotide variant Pathogenic rs202128397 GRCh37 Chromosome 9, 126133214: 126133214
5 CRB2 NM_173689.6(CRB2): c.3089_3104dup16 (p.Gly1036Alafs) duplication Pathogenic rs879255251 GRCh37 Chromosome 9, 126135899: 126135914
6 CRB2 NM_173689.6(CRB2): c.3089_3104dup16 (p.Gly1036Alafs) duplication Pathogenic rs879255251 GRCh38 Chromosome 9, 123373620: 123373635
7 CRB2 NM_173689.6(CRB2): c.1886G> C (p.Cys629Ser) single nucleotide variant Pathogenic rs879255252 GRCh37 Chromosome 9, 126133218: 126133218
8 CRB2 NM_173689.6(CRB2): c.1886G> C (p.Cys629Ser) single nucleotide variant Pathogenic rs879255252 GRCh38 Chromosome 9, 123370939: 123370939
9 CRB2 NM_173689.6(CRB2): c.3746G> A (p.Arg1249Gln) single nucleotide variant Pathogenic rs147412276 GRCh37 Chromosome 9, 126139229: 126139229
10 CRB2 NM_173689.6(CRB2): c.3746G> A (p.Arg1249Gln) single nucleotide variant Pathogenic rs147412276 GRCh38 Chromosome 9, 123376950: 123376950
11 CRB2 NM_173689.6(CRB2): c.1600C> T (p.Arg534Trp) single nucleotide variant Uncertain significance rs759002273 GRCh38 Chromosome 9, 123370653: 123370653
12 CRB2 NM_173689.6(CRB2): c.1600C> T (p.Arg534Trp) single nucleotide variant Uncertain significance rs759002273 GRCh37 Chromosome 9, 126132932: 126132932
13 CRB2 NM_173689.6(CRB2): c.3190C> T (p.Pro1064Ser) single nucleotide variant Uncertain significance rs868484209 GRCh38 Chromosome 9, 123373721: 123373721
14 CRB2 NM_173689.6(CRB2): c.3190C> T (p.Pro1064Ser) single nucleotide variant Uncertain significance rs868484209 GRCh37 Chromosome 9, 126136000: 126136000
15 CRB2 NM_173689.6(CRB2): c.3559A> C (p.Thr1187Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 9, 123375269: 123375269
16 CRB2 NM_173689.6(CRB2): c.3559A> C (p.Thr1187Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 9, 126137548: 126137548

Expression for Focal Segmental Glomerulosclerosis 9

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

Pathways for Focal Segmental Glomerulosclerosis 9

GO Terms for Focal Segmental Glomerulosclerosis 9

Sources for Focal Segmental Glomerulosclerosis 9

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
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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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