FSGS7
MCID: FCL085
MIFTS: 32

Focal Segmental Glomerulosclerosis 7 (FSGS7)

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

Aliases & Classifications for Focal Segmental Glomerulosclerosis 7

MalaCards integrated aliases for Focal Segmental Glomerulosclerosis 7:

Name: Focal Segmental Glomerulosclerosis 7 57 12 72 29 6 15 70
Fsgs7 57 12 72
Glomerulosclerosis, Focal Segmental, Type 7 39
Glomerulosclerosis, Focal Segmental, 7 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
incomplete penetrance
variable severity
variable age at onset (late childhood to adult)

Inheritance:
autosomal dominant


HPO:

31
focal segmental glomerulosclerosis 7:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity incomplete penetrance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111132
OMIM® 57 616002
OMIM Phenotypic Series 57 PS603278
MeSH 44 D005923
ICD10 32 N04.1
UMLS 70 C4014925

Summaries for Focal Segmental Glomerulosclerosis 7

OMIM® : 57 Focal segmental glomerulosclerosis is a form of kidney injury defined by partial sclerosis of some but not all glomeruli. It is characterized clinically by significant proteinuria with or without features of nephrotic syndrome. Some patients develop end-stage renal disease (summary by Barua et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome, see FSGS1 (603278). (616002) (Updated 20-May-2021)

MalaCards based summary : Focal Segmental Glomerulosclerosis 7, also known as fsgs7, is related to diffuse mesangial sclerosis and nail-patella syndrome. An important gene associated with Focal Segmental Glomerulosclerosis 7 is PAX2 (Paired Box 2), and among its related pathways/superpathways is Primary Focal Segmental Glomerulosclerosis FSGS. Affiliated tissues include kidney, and related phenotypes are renal hypoplasia and stage 5 chronic kidney disease

Disease Ontology : 12 A focal segmental glomerulosclerosis that has material basis in an autosomal dominant mutation of PAX2 on chromosome 10q24.31.

UniProtKB/Swiss-Prot : 72 Focal segmental glomerulosclerosis 7: 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 7

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 7 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 22)
# Related Disease Score Top Affiliating Genes
1 diffuse mesangial sclerosis 10.0 PAX2 LAMB2
2 nail-patella syndrome 10.0 PAX2 INF2
3 denys-drash syndrome 10.0 PAX2 INF2
4 pierson syndrome 10.0 LAMB2 INF2
5 oligohydramnios 9.9 PAX2 INF2
6 galloway-mowat syndrome 9.9 LAMB2 INF2
7 alport syndrome 9.8 LAMB2 INF2
8 cystic kidney disease 9.8 PAX2 CRB2
9 focal segmental glomerulosclerosis 2 9.7 LAMB2 INF2 CRB2
10 end stage renal disease 9.7 PAX2 INF2
11 oligomeganephronia 9.7 PAX2 INF2 COQ8B
12 focal segmental glomerulosclerosis 5 9.7 LAMB2 INF2 COQ8B
13 frasier syndrome 9.7 PAX2 INF2 COQ8B
14 kidney disease 9.6 PAX2 INF2 CRB2
15 familial nephrotic syndrome 9.6 INF2 CRB2 COQ8B
16 focal segmental glomerulosclerosis 6 9.4 LAMB2 INF2 CRB2 COQ8B
17 genetic steroid-resistant nephrotic syndrome 9.0 PAX2 INF2 EMP2 CRB2 COQ8B
18 focal segmental glomerulosclerosis 9 9.0 LAMB2 INF2 EMP2 CRB2 COQ8B
19 focal segmental glomerulosclerosis 8 9.0 LAMB2 INF2 EMP2 CRB2 COQ8B
20 focal segmental glomerulosclerosis 1 8.9 LAMB2 INF2 EMP2 CRB2 COQ8B
21 focal segmental glomerulosclerosis 8.7 PAX2 LAMB2 INF2 EMP2 CRB2 COQ8B
22 nephrotic syndrome 8.7 PAX2 LAMB2 INF2 EMP2 CRB2 COQ8B

Graphical network of the top 20 diseases related to Focal Segmental Glomerulosclerosis 7:



Diseases related to Focal Segmental Glomerulosclerosis 7

Symptoms & Phenotypes for Focal Segmental Glomerulosclerosis 7

Human phenotypes related to Focal Segmental Glomerulosclerosis 7:

31
# Description HPO Frequency HPO Source Accession
1 renal hypoplasia 31 occasional (7.5%) HP:0000089
2 stage 5 chronic kidney disease 31 occasional (7.5%) HP:0003774
3 proteinuria 31 HP:0000093
4 nephrotic syndrome 31 HP:0000100
5 focal segmental glomerulosclerosis 31 HP:0000097

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Laboratory Abnormalities:
proteinuria

Genitourinary Kidneys:
nephrotic syndrome
focal segmental glomerulosclerosis
end-stage renal disease (in some patients)
biopsy shows effacement of foot processes
small kidneys (in some patients)

Clinical features from OMIM®:

616002 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Focal Segmental Glomerulosclerosis 7 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability GR00386-A-1 8.8 CRB2 EMP2 PAX2

MGI Mouse Phenotypes related to Focal Segmental Glomerulosclerosis 7:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.02 COQ8B CRB2 EMP2 INF2 PAX2

Drugs & Therapeutics for Focal Segmental Glomerulosclerosis 7

Search Clinical Trials , NIH Clinical Center for Focal Segmental Glomerulosclerosis 7

Genetic Tests for Focal Segmental Glomerulosclerosis 7

Genetic tests related to Focal Segmental Glomerulosclerosis 7:

# Genetic test Affiliating Genes
1 Focal Segmental Glomerulosclerosis 7 29 PAX2

Anatomical Context for Focal Segmental Glomerulosclerosis 7

MalaCards organs/tissues related to Focal Segmental Glomerulosclerosis 7:

40
Kidney

Publications for Focal Segmental Glomerulosclerosis 7

Articles related to Focal Segmental Glomerulosclerosis 7:

# Title Authors PMID Year
1
Mutations in PAX2 associate with adult-onset FSGS. 57 6
24676634 2014
2
Diverse Renal Phenotypes Observed in a Single Family with a Genetic Mutation in Paired Box Protein 2. 6
27226968 2016
3
Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract. 6
24429398 2014

Variations for Focal Segmental Glomerulosclerosis 7

ClinVar genetic disease variations for Focal Segmental Glomerulosclerosis 7:

6 (show all 32)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PAX2 NM_000278.5(PAX2):c.565G>A (p.Gly189Arg) SNV Pathogenic 155928 rs1131692055 GRCh37: 10:102541071-102541071
GRCh38: 10:100781314-100781314
2 PAX2 NM_000278.5(PAX2):c.167G>A (p.Arg56Gln) SNV Pathogenic 155929 rs587777708 GRCh37: 10:102509626-102509626
GRCh38: 10:100749869-100749869
3 PAX2 NM_000278.5(PAX2):c.239C>T (p.Pro80Leu) SNV Pathogenic 465775 rs1554856032 GRCh37: 10:102510477-102510477
GRCh38: 10:100750720-100750720
4 PAX2 NM_000278.5(PAX2):c.76dup (p.Val26fs) Duplication Pathogenic 156297 rs75462234 GRCh37: 10:102509528-102509529
GRCh38: 10:100749771-100749772
5 PAX2 NM_000278.5(PAX2):c.76dup (p.Val26fs) Duplication Pathogenic 156297 rs75462234 GRCh37: 10:102509528-102509529
GRCh38: 10:100749771-100749772
6 PAX2 NM_000278.5(PAX2):c.43+5G>A SNV Likely pathogenic 807455 rs878853000 GRCh37: 10:102506065-102506065
GRCh38: 10:100746308-100746308
7 PAX2 NM_000278.5(PAX2):c.419G>T (p.Arg140Leu) SNV Likely pathogenic 915266 GRCh37: 10:102539263-102539263
GRCh38: 10:100779506-100779506
8 PAX2 NM_000278.5(PAX2):c.563A>G (p.Asn188Ser) SNV Uncertain significance 862725 GRCh37: 10:102541069-102541069
GRCh38: 10:100781312-100781312
9 PAX2 NM_000278.5(PAX2):c.263C>A (p.Pro88His) SNV Uncertain significance 976196 GRCh37: 10:102510501-102510501
GRCh38: 10:100750744-100750744
10 PAX2 NM_000278.5(PAX2):c.356T>C (p.Leu119Pro) SNV Uncertain significance 998916 GRCh37: 10:102510594-102510594
GRCh38: 10:100750837-100750837
11 PAX2 NM_000278.5(PAX2):c.1021+235T>C SNV Uncertain significance 1021725 GRCh37: 10:102584741-102584741
GRCh38: 10:100824984-100824984
12 PAX2 NM_000278.5(PAX2):c.491C>A (p.Thr164Asn) SNV Uncertain significance 1025376 GRCh37: 10:102539335-102539335
GRCh38: 10:100779578-100779578
13 PAX2 NM_000278.5(PAX2):c.584G>A (p.Arg195His) SNV Uncertain significance 1034942 GRCh37: 10:102541090-102541090
GRCh38: 10:100781333-100781333
14 PAX2 NM_000278.5(PAX2):c.1029G>C (p.Glu343Asp) SNV Uncertain significance 1047482 GRCh37: 10:102586773-102586773
GRCh38: 10:100827016-100827016
15 PAX2 NM_000278.5(PAX2):c.71G>C (p.Gly24Ala) SNV Uncertain significance 1060180 GRCh37: 10:102509530-102509530
GRCh38: 10:100749773-100749773
16 PAX2 NM_000278.5(PAX2):c.793G>C (p.Gly265Arg) SNV Uncertain significance 1060259 GRCh37: 10:102568867-102568867
GRCh38: 10:100809110-100809110
17 PAX2 NM_000278.5(PAX2):c.976G>A (p.Gly326Ser) SNV Uncertain significance 1063392 GRCh37: 10:102584461-102584461
GRCh38: 10:100824704-100824704
18 PAX2 NM_000278.5(PAX2):c.148C>T (p.Arg50Trp) SNV Uncertain significance 829843 rs759356936 GRCh37: 10:102509607-102509607
GRCh38: 10:100749850-100749850
19 PAX2 NM_000278.5(PAX2):c.1049G>C (p.Ser350Thr) SNV Uncertain significance 829958 rs1589910427 GRCh37: 10:102586793-102586793
GRCh38: 10:100827036-100827036
20 PAX2 NM_000278.5(PAX2):c.70G>C (p.Gly24Arg) SNV Uncertain significance 836075 GRCh37: 10:102509529-102509529
GRCh38: 10:100749772-100749772
21 PAX2 NM_000278.5(PAX2):c.616+6G>C SNV Uncertain significance 860696 GRCh37: 10:102541128-102541128
GRCh38: 10:100781371-100781371
22 PAX2 NM_000278.5(PAX2):c.563A>G (p.Asn188Ser) SNV Uncertain significance 862725 GRCh37: 10:102541069-102541069
GRCh38: 10:100781312-100781312
23 PAX2 NM_000278.5(PAX2):c.740G>A (p.Arg247His) SNV Uncertain significance 534187 rs747639879 GRCh37: 10:102566310-102566310
GRCh38: 10:100806553-100806553
24 PAX2 NM_000278.5(PAX2):c.478G>A (p.Ala160Thr) SNV Uncertain significance 569063 rs201383632 GRCh37: 10:102539322-102539322
GRCh38: 10:100779565-100779565
25 PAX2 NM_000278.5(PAX2):c.1A>G (p.Met1Val) SNV Uncertain significance 599177 rs767150408 GRCh37: 10:102506018-102506018
GRCh38: 10:100746261-100746261
26 PAX2 NM_000278.5(PAX2):c.272C>T (p.Ala91Val) SNV Uncertain significance 635537 rs1589813617 GRCh37: 10:102510510-102510510
GRCh38: 10:100750753-100750753
27 PAX2 NM_000278.5(PAX2):c.460G>A (p.Ala154Thr) SNV Uncertain significance 657141 rs778742674 GRCh37: 10:102539304-102539304
GRCh38: 10:100779547-100779547
28 PAX2 NM_000278.5(PAX2):c.350G>C (p.Arg117Pro) SNV Uncertain significance 661636 rs773306707 GRCh37: 10:102510588-102510588
GRCh38: 10:100750831-100750831
29 PAX2 NM_000278.5(PAX2):c.867C>G (p.Asn289Lys) SNV Likely benign 534188 rs199724772 GRCh37: 10:102568941-102568941
GRCh38: 10:100809184-100809184
30 PAX2 NM_000278.5(PAX2):c.932C>T (p.Ala311Val) SNV Likely benign 156301 rs78738655 GRCh37: 10:102584417-102584417
GRCh38: 10:100824660-100824660
31 PAX2 NM_000278.5(PAX2):c.360C>T (p.Ala120=) SNV Benign 94386 rs41291450 GRCh37: 10:102510598-102510598
GRCh38: 10:100750841-100750841
32 PAX2 NM_000278.5(PAX2):c.213-8C>T SNV Benign 707348 rs369615430 GRCh37: 10:102510443-102510443
GRCh38: 10:100750686-100750686

UniProtKB/Swiss-Prot genetic disease variations for Focal Segmental Glomerulosclerosis 7:

72
# Symbol AA change Variation ID SNP ID
1 PAX2 p.Thr164Asn VAR_068094 rs370214925
2 PAX2 p.Arg56Gln VAR_071938 rs587777708
3 PAX2 p.Pro80Leu VAR_071939 rs155485603
4 PAX2 p.Ser133Phe VAR_071940
5 PAX2 p.Thr150Ala VAR_071942 rs120107872
6 PAX2 p.Gly189Arg VAR_071943 rs113169205

Expression for Focal Segmental Glomerulosclerosis 7

Search GEO for disease gene expression data for Focal Segmental Glomerulosclerosis 7.

Pathways for Focal Segmental Glomerulosclerosis 7

Pathways related to Focal Segmental Glomerulosclerosis 7 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.67 PAX2 LAMB2 INF2

GO Terms for Focal Segmental Glomerulosclerosis 7

Cellular components related to Focal Segmental Glomerulosclerosis 7 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 7 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 7

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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