MCID: FCL026
MIFTS: 19

Focal Segmental Glomerulosclerosis 2

Categories: Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Focal Segmental Glomerulosclerosis 2

MalaCards integrated aliases for Focal Segmental Glomerulosclerosis 2:

Name: Focal Segmental Glomerulosclerosis 2 57 12 75 29 6 73
Fsgs2 57 12 75
Glomerulosclerosis, Focal Segmental, 2 57 13
Glomerulosclerosis, Segmental, Focal, Type 2 40

Classifications:



External Ids:

OMIM 57 603965
Disease Ontology 12 DOID:0111129
ICD10 33 N04.1
MedGen 42 C1858915
MeSH 44 D005923
UMLS 73 C1858915

Summaries for Focal Segmental Glomerulosclerosis 2

OMIM : 57 Focal segmental glomerulosclerosis (FSGS) is a pathologic entity associated clinically with proteinuria, the nephrotic syndrome (NPHS), and progressive loss of renal function. It is a common cause of end-stage renal disease (ESRD) (review by Meyrier, 2005). For a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome (NPHS), see FSGS1 (603278). (603965)

MalaCards based summary : Focal Segmental Glomerulosclerosis 2, is also known as fsgs2. An important gene associated with Focal Segmental Glomerulosclerosis 2 is TRPC6 (Transient Receptor Potential Cation Channel Subfamily C Member 6). 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 a mutation of TRPC6 on chromosome 11q22.1.

UniProtKB/Swiss-Prot : 75 Focal segmental glomerulosclerosis 2: 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.

Related Diseases for Focal Segmental Glomerulosclerosis 2

Symptoms & Phenotypes for Focal Segmental Glomerulosclerosis 2

Clinical features from OMIM:

603965

Human phenotypes related to Focal Segmental Glomerulosclerosis 2:

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 chronic kidney disease 32 HP:0012622

Drugs & Therapeutics for Focal Segmental Glomerulosclerosis 2

Search Clinical Trials , NIH Clinical Center for Focal Segmental Glomerulosclerosis 2

Genetic Tests for Focal Segmental Glomerulosclerosis 2

Genetic tests related to Focal Segmental Glomerulosclerosis 2:

# Genetic test Affiliating Genes
1 Focal Segmental Glomerulosclerosis 2 29 TRPC6

Anatomical Context for Focal Segmental Glomerulosclerosis 2

MalaCards organs/tissues related to Focal Segmental Glomerulosclerosis 2:

41
Kidney

Publications for Focal Segmental Glomerulosclerosis 2

Variations for Focal Segmental Glomerulosclerosis 2

UniProtKB/Swiss-Prot genetic disease variations for Focal Segmental Glomerulosclerosis 2:

75
# Symbol AA change Variation ID SNP ID
1 TRPC6 p.Pro112Gln VAR_026730 rs121434390
2 TRPC6 p.Asn143Ser VAR_026731 rs121434391
3 TRPC6 p.Ser270Thr VAR_026732 rs121434392
4 TRPC6 p.Arg895Cys VAR_026733 rs121434394
5 TRPC6 p.Glu897Lys VAR_026734 rs121434395
6 TRPC6 p.His218Leu VAR_067248 rs779430565
7 TRPC6 p.Arg895Leu VAR_067249
8 TRPC6 p.Gly109Ser VAR_079786
9 TRPC6 p.Arg175Gln VAR_079787
10 TRPC6 p.Gly757Asp VAR_079790

ClinVar genetic disease variations for Focal Segmental Glomerulosclerosis 2:

6
(show all 30)
# Gene Variation Type Significance SNP ID Assembly Location
1 TRPC6 NM_004621.5(TRPC6): c.335C> A (p.Pro112Gln) single nucleotide variant Pathogenic rs121434390 GRCh37 Chromosome 11, 101375365: 101375365
2 TRPC6 NM_004621.5(TRPC6): c.335C> A (p.Pro112Gln) single nucleotide variant Pathogenic rs121434390 GRCh38 Chromosome 11, 101504634: 101504634
3 TRPC6 NM_004621.5(TRPC6): c.428A> G (p.Asn143Ser) single nucleotide variant Pathogenic rs121434391 GRCh37 Chromosome 11, 101375272: 101375272
4 TRPC6 NM_004621.5(TRPC6): c.428A> G (p.Asn143Ser) single nucleotide variant Pathogenic rs121434391 GRCh38 Chromosome 11, 101504541: 101504541
5 TRPC6 NM_004621.5(TRPC6): c.808T> A (p.Ser270Thr) single nucleotide variant Pathogenic rs121434392 GRCh37 Chromosome 11, 101374892: 101374892
6 TRPC6 NM_004621.5(TRPC6): c.808T> A (p.Ser270Thr) single nucleotide variant Pathogenic rs121434392 GRCh38 Chromosome 11, 101504161: 101504161
7 TRPC6 NM_004621.5(TRPC6): c.2620A> T (p.Lys874Ter) single nucleotide variant Pathogenic rs121434393 GRCh37 Chromosome 11, 101324405: 101324405
8 TRPC6 NM_004621.5(TRPC6): c.2620A> T (p.Lys874Ter) single nucleotide variant Pathogenic rs121434393 GRCh38 Chromosome 11, 101453674: 101453674
9 TRPC6 NM_004621.5(TRPC6): c.2683C> T (p.Arg895Cys) single nucleotide variant Pathogenic rs121434394 GRCh37 Chromosome 11, 101323799: 101323799
10 TRPC6 NM_004621.5(TRPC6): c.2683C> T (p.Arg895Cys) single nucleotide variant Pathogenic rs121434394 GRCh38 Chromosome 11, 101453068: 101453068
11 TRPC6 NM_004621.5(TRPC6): c.2689G> A (p.Glu897Lys) single nucleotide variant Pathogenic rs121434395 GRCh37 Chromosome 11, 101323793: 101323793
12 TRPC6 NM_004621.5(TRPC6): c.2689G> A (p.Glu897Lys) single nucleotide variant Pathogenic rs121434395 GRCh38 Chromosome 11, 101453062: 101453062
13 TRPC6 NM_004621.5(TRPC6): c.2529C> T (p.Phe843=) single nucleotide variant Benign rs72984209 GRCh38 Chromosome 11, 101455057: 101455057
14 TRPC6 NM_004621.5(TRPC6): c.2529C> T (p.Phe843=) single nucleotide variant Benign rs72984209 GRCh37 Chromosome 11, 101325788: 101325788
15 TRPC6 NM_004621.5(TRPC6): c.2115C> T (p.Tyr705=) single nucleotide variant Benign rs61743044 GRCh37 Chromosome 11, 101342958: 101342958
16 TRPC6 NM_004621.5(TRPC6): c.2115C> T (p.Tyr705=) single nucleotide variant Benign rs61743044 GRCh38 Chromosome 11, 101472227: 101472227
17 TRPC6 NM_004621.5(TRPC6): c.1683T> C (p.Asn561=) single nucleotide variant Benign rs12366144 GRCh38 Chromosome 11, 101476362: 101476362
18 TRPC6 NM_004621.5(TRPC6): c.1683T> C (p.Asn561=) single nucleotide variant Benign rs12366144 GRCh37 Chromosome 11, 101347093: 101347093
19 TRPC6 NM_004621.5(TRPC6): c.1211C> T (p.Ala404Val) single nucleotide variant Benign rs36111323 GRCh38 Chromosome 11, 101489019: 101489019
20 TRPC6 NM_004621.5(TRPC6): c.1211C> T (p.Ala404Val) single nucleotide variant Benign rs36111323 GRCh37 Chromosome 11, 101359750: 101359750
21 TRPC6 NM_004621.5(TRPC6): c.43C> T (p.Pro15Ser) single nucleotide variant Benign rs3802829 GRCh38 Chromosome 11, 101583461: 101583461
22 TRPC6 NM_004621.5(TRPC6): c.43C> T (p.Pro15Ser) single nucleotide variant Benign rs3802829 GRCh37 Chromosome 11, 101454192: 101454192
23 TRPC6 NM_004621.5(TRPC6): c.304T> A (p.Phe102Ile) single nucleotide variant Uncertain significance rs201363468 GRCh37 Chromosome 11, 101375396: 101375396
24 TRPC6 NM_004621.5(TRPC6): c.304T> A (p.Phe102Ile) single nucleotide variant Uncertain significance rs201363468 GRCh38 Chromosome 11, 101504665: 101504665
25 TRPC6 NM_004621.5(TRPC6): c.5G> C (p.Ser2Thr) single nucleotide variant Uncertain significance rs886039885 GRCh37 Chromosome 11, 101454230: 101454230
26 TRPC6 NM_004621.5(TRPC6): c.5G> C (p.Ser2Thr) single nucleotide variant Uncertain significance rs886039885 GRCh38 Chromosome 11, 101583499: 101583499
27 TRPC6 NM_004621.5(TRPC6): c.673C> G (p.Leu225Val) single nucleotide variant Uncertain significance rs201368333 GRCh38 Chromosome 11, 101504296: 101504296
28 TRPC6 NM_004621.5(TRPC6): c.673C> G (p.Leu225Val) single nucleotide variant Uncertain significance rs201368333 GRCh37 Chromosome 11, 101375027: 101375027
29 TRPC6 NM_004621.5(TRPC6): c.518A> G (p.Tyr173Cys) single nucleotide variant Likely pathogenic GRCh38 Chromosome 11, 101504451: 101504451
30 TRPC6 NM_004621.5(TRPC6): c.518A> G (p.Tyr173Cys) single nucleotide variant Likely pathogenic GRCh37 Chromosome 11, 101375182: 101375182

Expression for Focal Segmental Glomerulosclerosis 2

Search GEO for disease gene expression data for Focal Segmental Glomerulosclerosis 2.

Pathways for Focal Segmental Glomerulosclerosis 2

GO Terms for Focal Segmental Glomerulosclerosis 2

Sources for Focal Segmental Glomerulosclerosis 2

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