MCID: FCL028
MIFTS: 20

Focal Segmental Glomerulosclerosis 5

Categories: Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Focal Segmental Glomerulosclerosis 5

MalaCards integrated aliases for Focal Segmental Glomerulosclerosis 5:

Name: Focal Segmental Glomerulosclerosis 5 57 12 75 29 6 73
Fsgs5 57 12 75
Glomerulosclerosis, Focal Segmental, 5 57 13
Glomerulosclerosis, Segmental, Focal, Type 5 40

Classifications:



External Ids:

OMIM 57 613237
Disease Ontology 12 DOID:0111130
ICD10 33 N04.1
MedGen 42 C2750475
MeSH 44 D005923
SNOMED-CT via HPO 69 236403004 25821008 52254009
UMLS 73 C2750475

Summaries for Focal Segmental Glomerulosclerosis 5

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) (Meyrier, 2005). Dominant intermediate Charcot-Marie-Tooth disease E and focal segmental glomerulonephritis (CMTDIE; 614455) is also caused by heterozygous mutation in the INF2 gene. For a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome, see FSGS1 (603278). (613237)

MalaCards based summary : Focal Segmental Glomerulosclerosis 5, also known as fsgs5, is related to charcot-marie-tooth disease, dominant intermediate e. An important gene associated with Focal Segmental Glomerulosclerosis 5 is INF2 (Inverted Formin, FH2 And WH2 Domain Containing). 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 dominant mutation of INF2 on chromosome 14q32.33.

UniProtKB/Swiss-Prot : 75 Focal segmental glomerulosclerosis 5: 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 5

Diseases in the Focal Segmental Glomerulosclerosis family:

Focal Segmental Glomerulosclerosis 1 Focal Segmental Glomerulosclerosis 2
Focal Segmental Glomerulosclerosis 3 Focal Segmental Glomerulosclerosis 4
Focal Segmental Glomerulosclerosis 5 Focal Segmental Glomerulosclerosis 6
Focal Segmental Glomerulosclerosis 7 Focal Segmental Glomerulosclerosis 8
Focal Segmental Glomerulosclerosis 9

Diseases related to Focal Segmental Glomerulosclerosis 5 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, dominant intermediate e 11.0

Symptoms & Phenotypes for Focal Segmental Glomerulosclerosis 5

Clinical features from OMIM:

613237

Human phenotypes related to Focal Segmental Glomerulosclerosis 5:

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 5

Search Clinical Trials , NIH Clinical Center for Focal Segmental Glomerulosclerosis 5

Genetic Tests for Focal Segmental Glomerulosclerosis 5

Genetic tests related to Focal Segmental Glomerulosclerosis 5:

# Genetic test Affiliating Genes
1 Focal Segmental Glomerulosclerosis 5 29 INF2

Anatomical Context for Focal Segmental Glomerulosclerosis 5

MalaCards organs/tissues related to Focal Segmental Glomerulosclerosis 5:

41
Kidney

Publications for Focal Segmental Glomerulosclerosis 5

Variations for Focal Segmental Glomerulosclerosis 5

UniProtKB/Swiss-Prot genetic disease variations for Focal Segmental Glomerulosclerosis 5:

75 (show all 22)
# Symbol AA change Variation ID SNP ID
1 INF2 p.Ala13Thr VAR_063075 rs201383094
2 INF2 p.Leu42Pro VAR_063076 rs267606880
3 INF2 p.Glu184Lys VAR_063077
4 INF2 p.Ser186Pro VAR_063078 rs267606877
5 INF2 p.Leu198Arg VAR_063079
6 INF2 p.Arg214His VAR_063080 rs267606879
7 INF2 p.Arg218Gln VAR_063081 rs267607183
8 INF2 p.Arg218Trp VAR_063082 rs267606878
9 INF2 p.Glu220Lys VAR_063083
10 INF2 p.Leu245Pro VAR_068845
11 INF2 p.Leu76Pro VAR_072229
12 INF2 p.Arg177His VAR_072230
13 INF2 p.Glu184Gln VAR_072232
14 INF2 p.Tyr193His VAR_072233
15 INF2 p.Asn202Asp VAR_072234
16 INF2 p.Ala203Asp VAR_072235
17 INF2 p.Arg214Cys VAR_072236 rs912928648
18 INF2 p.Leu162Arg VAR_073991
19 INF2 p.Leu81Pro VAR_079802
20 INF2 p.Cys151Arg VAR_079804
21 INF2 p.His158Asp VAR_079805
22 INF2 p.Arg177Cys VAR_079806

ClinVar genetic disease variations for Focal Segmental Glomerulosclerosis 5:

6
(show top 50) (show all 255)
# Gene Variation Type Significance SNP ID Assembly Location
1 INF2 NM_022489.3(INF2): c.556T> C (p.Ser186Pro) single nucleotide variant Pathogenic rs267606877 GRCh37 Chromosome 14, 105169680: 105169680
2 INF2 NM_022489.3(INF2): c.556T> C (p.Ser186Pro) single nucleotide variant Pathogenic rs267606877 GRCh38 Chromosome 14, 104703343: 104703343
3 INF2 NM_022489.3(INF2): c.653G> A (p.Arg218Gln) single nucleotide variant Pathogenic rs267607183 GRCh37 Chromosome 14, 105169777: 105169777
4 INF2 NM_022489.3(INF2): c.653G> A (p.Arg218Gln) single nucleotide variant Pathogenic rs267607183 GRCh38 Chromosome 14, 104703440: 104703440
5 INF2 NM_022489.3(INF2): c.652C> T (p.Arg218Trp) single nucleotide variant Pathogenic rs267606878 GRCh37 Chromosome 14, 105169776: 105169776
6 INF2 NM_022489.3(INF2): c.652C> T (p.Arg218Trp) single nucleotide variant Pathogenic rs267606878 GRCh38 Chromosome 14, 104703439: 104703439
7 INF2 NM_022489.3(INF2): c.641G> A (p.Arg214His) single nucleotide variant Pathogenic rs267606879 GRCh37 Chromosome 14, 105169765: 105169765
8 INF2 NM_022489.3(INF2): c.641G> A (p.Arg214His) single nucleotide variant Pathogenic rs267606879 GRCh38 Chromosome 14, 104703428: 104703428
9 INF2 NM_022489.3(INF2): c.125T> C (p.Leu42Pro) single nucleotide variant Pathogenic rs267606880 GRCh37 Chromosome 14, 105167827: 105167827
10 INF2 NM_022489.3(INF2): c.125T> C (p.Leu42Pro) single nucleotide variant Pathogenic rs267606880 GRCh38 Chromosome 14, 104701490: 104701490
11 INF2 NM_022489.3(INF2): c.67T> A (p.Ser23Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs746964937 GRCh38 Chromosome 14, 104701432: 104701432
12 INF2 NM_022489.3(INF2): c.67T> A (p.Ser23Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs746964937 GRCh37 Chromosome 14, 105167769: 105167769
13 INF2 NM_022489.3(INF2): c.3221G> A (p.Arg1074Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs201445955 GRCh38 Chromosome 14, 104714383: 104714383
14 INF2 NM_022489.3(INF2): c.3221G> A (p.Arg1074Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs201445955 GRCh37 Chromosome 14, 105180720: 105180720
15 INF2 NM_022489.3(INF2): c.42G> A (p.Leu14=) single nucleotide variant Benign rs62638758 GRCh38 Chromosome 14, 104701407: 104701407
16 INF2 NM_022489.3(INF2): c.42G> A (p.Leu14=) single nucleotide variant Benign rs62638758 GRCh37 Chromosome 14, 105167744: 105167744
17 INF2 NM_022489.3(INF2): c.105C> T (p.Pro35=) single nucleotide variant Benign rs4983530 GRCh37 Chromosome 14, 105167807: 105167807
18 INF2 NM_022489.3(INF2): c.105C> T (p.Pro35=) single nucleotide variant Benign rs4983530 GRCh38 Chromosome 14, 104701470: 104701470
19 INF2 NM_022489.3(INF2): c.391+6C> T single nucleotide variant Benign rs75115369 GRCh38 Chromosome 14, 104701762: 104701762
20 INF2 NM_022489.3(INF2): c.391+6C> T single nucleotide variant Benign rs75115369 GRCh37 Chromosome 14, 105168099: 105168099
21 INF2 NM_022489.3(INF2): c.879G> A (p.Ser293=) single nucleotide variant Benign/Likely benign rs184709736 GRCh37 Chromosome 14, 105173282: 105173282
22 INF2 NM_022489.3(INF2): c.879G> A (p.Ser293=) single nucleotide variant Benign/Likely benign rs184709736 GRCh38 Chromosome 14, 104706945: 104706945
23 INF2 NM_022489.3(INF2): c.2310+8delA deletion Benign rs3840006 GRCh38 Chromosome 14, 104711015: 104711015
24 INF2 NM_022489.3(INF2): c.2310+8delA deletion Benign rs3840006 GRCh37 Chromosome 14, 105177352: 105177352
25 INF2 NM_022489.3(INF2): c.2322C> T (p.Thr774=) single nucleotide variant Benign rs59751492 GRCh37 Chromosome 14, 105177427: 105177427
26 INF2 NM_022489.3(INF2): c.2322C> T (p.Thr774=) single nucleotide variant Benign rs59751492 GRCh38 Chromosome 14, 104711090: 104711090
27 INF2 NM_022489.3(INF2): c.2458C> T (p.Arg820Trp) single nucleotide variant Benign/Likely benign rs79327775 GRCh38 Chromosome 14, 104711668: 104711668
28 INF2 NM_022489.3(INF2): c.2458C> T (p.Arg820Trp) single nucleotide variant Benign/Likely benign rs79327775 GRCh37 Chromosome 14, 105178005: 105178005
29 INF2 NM_022489.3(INF2): c.2571C> T (p.Ser857=) single nucleotide variant Benign rs62640005 GRCh38 Chromosome 14, 104712514: 104712514
30 INF2 NM_022489.3(INF2): c.2571C> T (p.Ser857=) single nucleotide variant Benign rs62640005 GRCh37 Chromosome 14, 105178851: 105178851
31 INF2 NM_022489.3(INF2): c.2630G> A (p.Arg877Gln) single nucleotide variant Benign/Likely benign rs142678449 GRCh38 Chromosome 14, 104712847: 104712847
32 INF2 NM_022489.3(INF2): c.2630G> A (p.Arg877Gln) single nucleotide variant Benign/Likely benign rs142678449 GRCh37 Chromosome 14, 105179184: 105179184
33 INF2 NM_022489.3(INF2): c.2640T> C (p.Asp880=) single nucleotide variant Benign rs10133301 GRCh37 Chromosome 14, 105179194: 105179194
34 INF2 NM_022489.3(INF2): c.2640T> C (p.Asp880=) single nucleotide variant Benign rs10133301 GRCh38 Chromosome 14, 104712857: 104712857
35 INF2 NM_022489.3(INF2): c.3066T> C (p.Asp1022=) single nucleotide variant Benign rs4983535 GRCh37 Chromosome 14, 105180565: 105180565
36 INF2 NM_022489.3(INF2): c.3066T> C (p.Asp1022=) single nucleotide variant Benign rs4983535 GRCh38 Chromosome 14, 104714228: 104714228
37 INF2 NM_022489.3(INF2): c.3069C> T (p.Pro1023=) single nucleotide variant Benign/Likely benign rs75382114 GRCh37 Chromosome 14, 105180568: 105180568
38 INF2 NM_022489.3(INF2): c.3069C> T (p.Pro1023=) single nucleotide variant Benign/Likely benign rs75382114 GRCh38 Chromosome 14, 104714231: 104714231
39 INF2 NM_022489.3(INF2): c.3108T> C (p.Leu1036=) single nucleotide variant Benign/Likely benign rs186075307 GRCh37 Chromosome 14, 105180607: 105180607
40 INF2 NM_022489.3(INF2): c.3108T> C (p.Leu1036=) single nucleotide variant Benign/Likely benign rs186075307 GRCh38 Chromosome 14, 104714270: 104714270
41 INF2 NM_022489.3(INF2): c.3153C> T (p.Asp1051=) single nucleotide variant Benign rs117457867 GRCh37 Chromosome 14, 105180652: 105180652
42 INF2 NM_022489.3(INF2): c.3153C> T (p.Asp1051=) single nucleotide variant Benign rs117457867 GRCh38 Chromosome 14, 104714315: 104714315
43 INF2 NM_022489.3(INF2): c.3207A> C (p.Pro1069=) single nucleotide variant Benign rs1128840 GRCh38 Chromosome 14, 104714369: 104714369
44 INF2 NM_022489.3(INF2): c.3207A> C (p.Pro1069=) single nucleotide variant Benign rs1128840 GRCh37 Chromosome 14, 105180706: 105180706
45 INF2 NM_022489.3(INF2): c.3207A> G (p.Pro1069=) single nucleotide variant Benign rs1128840 GRCh37 Chromosome 14, 105180706: 105180706
46 INF2 NM_022489.3(INF2): c.3207A> G (p.Pro1069=) single nucleotide variant Benign rs1128840 GRCh38 Chromosome 14, 104714369: 104714369
47 INF2 NM_022489.3(INF2): c.3286C> T (p.Pro1096Ser) single nucleotide variant Benign rs34251364 GRCh37 Chromosome 14, 105180785: 105180785
48 INF2 NM_022489.3(INF2): c.3286C> T (p.Pro1096Ser) single nucleotide variant Benign rs34251364 GRCh38 Chromosome 14, 104714448: 104714448
49 INF2 NM_022489.3(INF2): c.3404C> T (p.Thr1135Met) single nucleotide variant Benign/Likely benign rs3803311 GRCh37 Chromosome 14, 105180903: 105180903
50 INF2 NM_022489.3(INF2): c.3404C> T (p.Thr1135Met) single nucleotide variant Benign/Likely benign rs3803311 GRCh38 Chromosome 14, 104714566: 104714566

Expression for Focal Segmental Glomerulosclerosis 5

Search GEO for disease gene expression data for Focal Segmental Glomerulosclerosis 5.

Pathways for Focal Segmental Glomerulosclerosis 5

GO Terms for Focal Segmental Glomerulosclerosis 5

Sources for Focal Segmental Glomerulosclerosis 5

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