FSGS5
MCID: FCL028
MIFTS: 36

Focal Segmental Glomerulosclerosis 5 (FSGS5)

Categories: Genetic diseases, Immune 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 72 29 6 15 70
Fsgs5 57 12 72
Glomerulosclerosis, Focal Segmental, 5 57 13
Glomerulosclerosis, Segmental, Focal, Type 5 39

Characteristics:

HPO:

31
focal segmental glomerulosclerosis 5:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0111130
OMIM® 57 613237
OMIM Phenotypic Series 57 PS603278
MeSH 44 D005923
ICD10 32 N04.1
MedGen 41 C2750475
UMLS 70 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) (Updated 05-Apr-2021)

MalaCards based summary : Focal Segmental Glomerulosclerosis 5, also known as fsgs5, is related to charcot-marie-tooth disease, dominant intermediate e and focal segmental glomerulosclerosis 8. An important gene associated with Focal Segmental Glomerulosclerosis 5 is INF2 (Inverted Formin 2), and among its related pathways/superpathways are Amoebiasis and Primary Focal Segmental Glomerulosclerosis FSGS. Affiliated tissues include kidney, and related phenotypes are hypertension and proteinuria

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 : 72 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 10 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:

(show all 26)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, dominant intermediate e 11.3
2 focal segmental glomerulosclerosis 8 9.8 LAMB2 INF2 COQ8B
3 focal segmental glomerulosclerosis 7 9.7 LAMB2 INF2 COQ8B
4 focal segmental glomerulosclerosis 9 9.7 LAMB2 INF2 COQ8B
5 hypoparathyroidism, sensorineural deafness, and renal disease 9.7 LAMB2 ACTN4
6 glomerular disease 9.6 CD2AP ACTN4
7 nephrotic syndrome, type 1 9.5 CD2AP ACTN4
8 nephrotic syndrome, type 2 9.5 INF2 CD2AP ACTN4
9 nail-patella syndrome 9.4 INF2 CD2AP ACTN4
10 denys-drash syndrome 9.4 INF2 CD2AP ACTN4
11 lipoid nephrosis 9.4 CD2AP APOL1 ACTN4
12 focal segmental glomerulosclerosis 2 9.3 LAMB2 INF2 CD2AP ACTN4
13 pierson syndrome 9.3 LAMB2 INF2 CD2AP ACTN4
14 galloway-mowat syndrome 9.3 LAMB2 INF2 CD2AP ACTN4
15 proteinuria, chronic benign 9.2 INF2 CD2AP APOL1 ACTN4
16 frasier syndrome 9.2 INF2 COQ8B CD2AP ACTN4
17 kidney disease 9.2 INF2 CD2AP ACTN4
18 end stage renal disease 9.2 INF2 CD2AP APOL1 ACTN4
19 focal segmental glomerulosclerosis 6 9.0 LAMB2 INF2 COQ8B CD2AP ACTN4
20 oligomeganephronia 9.0 INF2 COQ8B CD2AP APOL1 ACTN4
21 familial nephrotic syndrome 9.0 INF2 COQ8B CD2AP APOL1 ACTN4
22 genetic steroid-resistant nephrotic syndrome 9.0 INF2 COQ8B CD2AP APOL1 ACTN4
23 focal segmental glomerulosclerosis 8.7 LAMB2 INF2 COQ8B CD2AP APOL1 ACTN4
24 focal segmental glomerulosclerosis 1 8.7 LAMB2 INF2 COQ8B CD2AP APOL1 ACTN4
25 alport syndrome 8.7 LAMB2 INF2 COQ8B CD2AP APOL1 ACTN4
26 nephrotic syndrome 8.7 LAMB2 INF2 COQ8B CD2AP APOL1 ACTN4

Graphical network of the top 20 diseases related to Focal Segmental Glomerulosclerosis 5:



Diseases related to Focal Segmental Glomerulosclerosis 5

Symptoms & Phenotypes for Focal Segmental Glomerulosclerosis 5

Human phenotypes related to Focal Segmental Glomerulosclerosis 5:

31
# Description HPO Frequency HPO Source Accession
1 hypertension 31 HP:0000822
2 proteinuria 31 HP:0000093
3 stage 5 chronic kidney disease 31 HP:0003774
4 microscopic hematuria 31 HP:0002907
5 focal segmental glomerulosclerosis 31 HP:0000097

Clinical features from OMIM®:

613237 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Focal Segmental Glomerulosclerosis 5:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 8.92 ACTN4 CD2AP COQ8B LAMB2

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:

40
Kidney

Publications for Focal Segmental Glomerulosclerosis 5

Articles related to Focal Segmental Glomerulosclerosis 5:

(show all 13)
# Title Authors PMID Year
1
Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis. 6 57
20023659 2010
2
Comprehensive genetic diagnosis of Japanese patients with severe proteinuria. 6
31937884 2020
3
A cryptic splicing mutation in the INF2 gene causing Charcot-Marie-Tooth disease with minimal glomerular dysfunction. 6
30680856 2019
4
Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform. 6
29653220 2019
5
Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation. 6
30373780 2018
6
Disease causing mutations in inverted formin 2 regulate its binding to G-actin, F-actin capping protein (CapZ α-1) and profilin 2. 6
26764407 2016
7
Inverted formin 2-related Charcot-Marie-Tooth disease: extension of the mutational spectrum and pathological findings in Schwann cells and axons. 6
25676889 2015
8
Novel INF2 mutations in an Italian cohort of patients with focal segmental glomerulosclerosis, renal failure and Charcot-Marie-Tooth neuropathy. 6
25165188 2014
9
INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy. 6
22187985 2011
10
Mechanisms of disease: focal segmental glomerulosclerosis. 57
16932363 2005
11
Pathologic classification of focal segmental glomerulosclerosis: a working proposal. 57
14750104 2004
12
SPECTRUM OF NEPHROPATHIES WITH SPECIAL REFERENCE TO PRIMARY GLOMERULOPATHIES. 61
28790675 2000
13
Conditions affecting the immunohistochemical detection of HIV in fixed and embedded renal and nonrenal tissues. 61
1379713 1992

Variations for Focal Segmental Glomerulosclerosis 5

ClinVar genetic disease variations for Focal Segmental Glomerulosclerosis 5:

6 (show top 50) (show all 524)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 INF2 NM_022489.4(INF2):c.556T>C (p.Ser186Pro) SNV Pathogenic 1050 rs267606877 GRCh37: 14:105169680-105169680
GRCh38: 14:104703343-104703343
2 INF2 NM_022489.4(INF2):c.653G>A (p.Arg218Gln) SNV Pathogenic 1051 rs267607183 GRCh37: 14:105169777-105169777
GRCh38: 14:104703440-104703440
3 INF2 NM_022489.4(INF2):c.652C>T (p.Arg218Trp) SNV Pathogenic 1052 rs267606878 GRCh37: 14:105169776-105169776
GRCh38: 14:104703439-104703439
4 INF2 NM_022489.4(INF2):c.641G>A (p.Arg214His) SNV Pathogenic 1053 rs267606879 GRCh37: 14:105169765-105169765
GRCh38: 14:104703428-104703428
5 INF2 NM_022489.4(INF2):c.125T>C (p.Leu42Pro) SNV Pathogenic 1054 rs267606880 GRCh37: 14:105167827-105167827
GRCh38: 14:104701490-104701490
6 INF2 NM_022489.4(INF2):c.218G>T (p.Gly73Val) SNV Pathogenic 472842 rs918089359 GRCh37: 14:105167920-105167920
GRCh38: 14:104701583-104701583
7 INF2 NM_022489.4(INF2):c.490_498del (p.Ala164_Asp166del) Deletion Pathogenic 472868 rs1555373599 GRCh37: 14:105169532-105169540
GRCh38: 14:104703195-104703203
8 INF2 NM_022489.4(INF2):c.530G>A (p.Arg177His) SNV Pathogenic 562407 rs1566778651 GRCh37: 14:105169654-105169654
GRCh38: 14:104703317-104703317
9 INF2 NM_022489.4(INF2):c.550G>A (p.Glu184Lys) SNV Pathogenic 599128 rs1566778676 GRCh37: 14:105169674-105169674
GRCh38: 14:104703337-104703337
10 INF2 NM_022489.4(INF2):c.640C>T (p.Arg214Cys) SNV Pathogenic 635443 rs912928648 GRCh37: 14:105169764-105169764
GRCh38: 14:104703427-104703427
11 INF2 NM_022489.4(INF2):c.217G>A (p.Gly73Ser) SNV Pathogenic 599131 rs1566777560 GRCh37: 14:105167919-105167919
GRCh38: 14:104701582-104701582
12 INF2 NM_022489.4(INF2):c.658G>A (p.Glu220Lys) SNV Pathogenic 523533 rs530391015 GRCh37: 14:105169782-105169782
GRCh38: 14:104703445-104703445
13 INF2 NM_022489.4(INF2):c.254C>G (p.Ser85Trp) SNV Pathogenic 829855 rs1317776692 GRCh37: 14:105167956-105167956
GRCh38: 14:104701619-104701619
14 INF2 NM_022489.4(INF2):c.271C>G (p.Arg91Gly) SNV Pathogenic 841546 GRCh37: 14:105167973-105167973
GRCh38: 14:104701636-104701636
15 INF2 NM_022489.4(INF2):c.170T>C (p.Leu57Pro) SNV Pathogenic 637700 rs1595163736 GRCh37: 14:105167872-105167872
GRCh38: 14:104701535-104701535
16 INF2 NM_022489.4(INF2):c.312C>G (p.Cys104Trp) SNV Pathogenic 30866 rs387907036 GRCh37: 14:105168014-105168014
GRCh38: 14:104701677-104701677
17 INF2 NM_022489.4(INF2):c.653G>A (p.Arg218Gln) SNV Pathogenic 1051 rs267607183 GRCh37: 14:105169777-105169777
GRCh38: 14:104703440-104703440
18 INF2 NM_022489.4(INF2):c.161G>C (p.Arg54Pro) SNV Likely pathogenic 981952 GRCh37: 14:105167863-105167863
GRCh38: 14:104701526-104701526
19 INF2 NM_022489.4(INF2):c.529C>T (p.Arg177Cys) SNV Likely pathogenic 807433 rs1595166085 GRCh37: 14:105169653-105169653
GRCh38: 14:104703316-104703316
20 INF2 NM_022489.4(INF2):c.167G>A (p.Arg56His) SNV Likely pathogenic 827825 rs1595163730 GRCh37: 14:105167869-105167869
GRCh38: 14:104701532-104701532
21 INF2 NM_022489.4(INF2):c.459C>G (p.Tyr153Ter) SNV Uncertain significance 631707 rs754706068 GRCh37: 14:105169509-105169509
GRCh38: 14:104703172-104703172
22 INF2 NM_022489.4(INF2):c.2908G>A (p.Val970Met) SNV Uncertain significance 829916 rs977752085 GRCh37: 14:105179811-105179811
GRCh38: 14:104713474-104713474
23 INF2 NM_022489.4(INF2):c.1289_1339del (p.Leu430_Leu446del) Deletion Uncertain significance 834773 GRCh37: 14:105173886-105173936
GRCh38: 14:104707549-104707599
24 INF2 NM_022489.4(INF2):c.758_763del (p.Ala253_Glu254del) Deletion Uncertain significance 835537 GRCh37: 14:105172425-105172430
GRCh38: 14:104706088-104706093
25 INF2 NM_022489.4(INF2):c.1405A>G (p.Met469Val) SNV Uncertain significance 836482 GRCh37: 14:105174009-105174009
GRCh38: 14:104707672-104707672
26 INF2 NM_022489.4(INF2):c.580G>A (p.Val194Met) SNV Uncertain significance 838307 GRCh37: 14:105169704-105169704
GRCh38: 14:104703367-104703367
27 INF2 NM_022489.4(INF2):c.3053A>G (p.Asn1018Ser) SNV Uncertain significance 840042 GRCh37: 14:105180552-105180552
GRCh38: 14:104714215-104714215
28 INF2 NM_022489.4(INF2):c.3563C>G (p.Ser1188Cys) SNV Uncertain significance 840862 GRCh37: 14:105181062-105181062
GRCh38: 14:104714725-104714725
29 INF2 NM_022489.4(INF2):c.2204G>A (p.Arg735Gln) SNV Uncertain significance 843246 GRCh37: 14:105176490-105176490
GRCh38: 14:104710153-104710153
30 INF2 NM_022489.4(INF2):c.1447T>G (p.Ser483Ala) SNV Uncertain significance 845044 GRCh37: 14:105174051-105174051
GRCh38: 14:104707714-104707714
31 INF2 NM_022489.4(INF2):c.188_208del (p.Gly63_Leu69del) Deletion Uncertain significance 848707 GRCh37: 14:105167889-105167909
GRCh38: 14:104701552-104701572
32 INF2 NM_022489.4(INF2):c.1053C>A (p.Ser351Arg) SNV Uncertain significance 849025 GRCh37: 14:105173657-105173657
GRCh38: 14:104707320-104707320
33 INF2 NM_022489.4(INF2):c.3598G>A (p.Asp1200Asn) SNV Uncertain significance 860061 GRCh37: 14:105181097-105181097
GRCh38: 14:104714760-104714760
34 INF2 NM_022489.4(INF2):c.3662G>A (p.Arg1221Gln) SNV Uncertain significance 864605 GRCh37: 14:105181161-105181161
GRCh38: 14:104714824-104714824
35 INF2 NM_022489.4(INF2):c.2389C>T (p.Arg797Cys) SNV Uncertain significance 881068 GRCh37: 14:105177494-105177494
GRCh38: 14:104711157-104711157
36 INF2 NM_022489.4(INF2):c.*314G>A SNV Uncertain significance 881153 GRCh37: 14:105185444-105185444
GRCh38: 14:104719107-104719107
37 INF2 NM_022489.4(INF2):c.*358C>T SNV Uncertain significance 881154 GRCh37: 14:105185488-105185488
GRCh38: 14:104719151-104719151
38 INF2 NM_022489.4(INF2):c.*396G>T SNV Uncertain significance 881155 GRCh37: 14:105185526-105185526
GRCh38: 14:104719189-104719189
39 INF2 NM_022489.4(INF2):c.*447A>T SNV Uncertain significance 881156 GRCh37: 14:105185577-105185577
GRCh38: 14:104719240-104719240
40 INF2 NM_022489.4(INF2):c.*503C>T SNV Uncertain significance 881157 GRCh37: 14:105185633-105185633
GRCh38: 14:104719296-104719296
41 INF2 NM_022489.4(INF2):c.2415G>A (p.Leu805=) SNV Uncertain significance 881530 GRCh37: 14:105177520-105177520
GRCh38: 14:104711183-104711183
42 INF2 NM_022489.4(INF2):c.3361C>G (p.Pro1121Ala) SNV Uncertain significance 881583 GRCh37: 14:105180860-105180860
GRCh38: 14:104714523-104714523
43 INF2 NM_022489.4(INF2):c.3446G>C (p.Ser1149Thr) SNV Uncertain significance 881584 GRCh37: 14:105180945-105180945
GRCh38: 14:104714608-104714608
44 INF2 NM_022489.4(INF2):c.*803G>A SNV Uncertain significance 881625 GRCh37: 14:105185933-105185933
GRCh38: 14:104719596-104719596
45 INF2 NM_022489.4(INF2):c.-88G>C SNV Uncertain significance 882332 GRCh37: 14:105155998-105155998
GRCh38: 14:104689661-104689661
46 INF2 NM_022489.4(INF2):c.1103A>G (p.Gln368Arg) SNV Uncertain significance 881030 GRCh37: 14:105173707-105173707
GRCh38: 14:104707370-104707370
47 INF2 NM_022489.4(INF2):c.18C>T (p.Gly6=) SNV Uncertain significance 757333 rs1032255653 GRCh37: 14:105167720-105167720
GRCh38: 14:104701383-104701383
48 INF2 NM_022489.4(INF2):c.1575C>T (p.Thr525=) SNV Uncertain significance 882651 GRCh37: 14:105174179-105174179
GRCh38: 14:104707842-104707842
49 INF2 NM_022489.4(INF2):c.2701G>A (p.Ala901Thr) SNV Uncertain significance 882695 GRCh37: 14:105179255-105179255
GRCh38: 14:104712918-104712918
50 INF2 NM_022489.4(INF2):c.2709G>C (p.Gln903His) SNV Uncertain significance 882696 GRCh37: 14:105179263-105179263
GRCh38: 14:104712926-104712926

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

72 (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 rs156677867
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 rs530391015
10 INF2 p.Leu245Pro VAR_068845
11 INF2 p.Leu76Pro VAR_072229
12 INF2 p.Arg177His VAR_072230 rs156677865
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

Expression for Focal Segmental Glomerulosclerosis 5

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

Pathways for Focal Segmental Glomerulosclerosis 5

Pathways related to Focal Segmental Glomerulosclerosis 5 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.16 LAMB2 ACTN4
2 10.79 LAMB2 INF2 CD2AP ACTN4
3 10.3 CD2AP ACTN4

GO Terms for Focal Segmental Glomerulosclerosis 5

Cellular components related to Focal Segmental Glomerulosclerosis 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 perinuclear region of cytoplasm GO:0048471 8.8 INF2 CD2AP ACTN4

Molecular functions related to Focal Segmental Glomerulosclerosis 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 8.62 LAMB2 ACTN4

Sources for Focal Segmental Glomerulosclerosis 5

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