MCID: FCL085
MIFTS: 20

Focal Segmental Glomerulosclerosis 7

Categories: Genetic 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 75 29 6 73
Fsgs7 57 12 75
Glomerulosclerosis, Focal Segmental, Type 7 40
Glomerulosclerosis, Focal Segmental, 7 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable age at onset (late childhood to adult)
incomplete penetrance
variable severity


HPO:

32
focal segmental glomerulosclerosis 7:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity incomplete penetrance


Classifications:



External Ids:

OMIM 57 616002
Disease Ontology 12 DOID:0111132
ICD10 33 N04.1
MeSH 44 D005923
UMLS 73 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)

MalaCards based summary : Focal Segmental Glomerulosclerosis 7, is also known as fsgs7. An important gene associated with Focal Segmental Glomerulosclerosis 7 is PAX2 (Paired Box 2). Affiliated tissues include kidney, and related phenotypes are renal hypoplasia and proteinuria

UniProtKB/Swiss-Prot : 75 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.

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

Related Diseases for Focal Segmental Glomerulosclerosis 7

Symptoms & Phenotypes for Focal Segmental Glomerulosclerosis 7

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Kidneys:
focal segmental glomerulosclerosis
nephrotic syndrome
end-stage renal disease (in some patients)
biopsy shows effacement of foot processes
small kidneys (in some patients)

Laboratory Abnormalities:
proteinuria


Clinical features from OMIM:

616002

Human phenotypes related to Focal Segmental Glomerulosclerosis 7:

32
# Description HPO Frequency HPO Source Accession
1 renal hypoplasia 32 occasional (7.5%) HP:0000089
2 proteinuria 32 HP:0000093
3 focal segmental glomerulosclerosis 32 HP:0000097
4 nephrotic syndrome 32 HP:0000100
5 stage 5 chronic kidney disease 32 occasional (7.5%) HP:0003774

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:

41
Kidney

Publications for Focal Segmental Glomerulosclerosis 7

Variations for Focal Segmental Glomerulosclerosis 7

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

75
# 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
4 PAX2 p.Ser133Phe VAR_071940
5 PAX2 p.Thr150Ala VAR_071942
6 PAX2 p.Gly189Arg VAR_071943

ClinVar genetic disease variations for Focal Segmental Glomerulosclerosis 7:

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 PAX2 NM_003990.4(PAX2): c.565G> A (p.Gly189Arg) single nucleotide variant Pathogenic rs1131692055 GRCh37 Chromosome 10, 102541071: 102541071
2 PAX2 NM_003990.4(PAX2): c.565G> A (p.Gly189Arg) single nucleotide variant Pathogenic rs1131692055 GRCh38 Chromosome 10, 100781314: 100781314
3 PAX2 NM_003990.4(PAX2): c.167G> A (p.Arg56Gln) single nucleotide variant Pathogenic rs587777708 GRCh38 Chromosome 10, 100749869: 100749869
4 PAX2 NM_003990.4(PAX2): c.167G> A (p.Arg56Gln) single nucleotide variant Pathogenic rs587777708 GRCh37 Chromosome 10, 102509626: 102509626
5 PAX2 NM_003990.4(PAX2): c.76dupG (p.Val26Glyfs) duplication Pathogenic rs77453353 GRCh38 Chromosome 10, 100749778: 100749778
6 PAX2 NM_003990.4(PAX2): c.76dupG (p.Val26Glyfs) duplication Pathogenic rs77453353 GRCh37 Chromosome 10, 102509535: 102509535
7 PAX2 NM_003988.4(PAX2): c.239C> T (p.Pro80Leu) single nucleotide variant Pathogenic GRCh37 Chromosome 10, 102510477: 102510477
8 PAX2 NM_003988.4(PAX2): c.239C> T (p.Pro80Leu) single nucleotide variant Pathogenic GRCh38 Chromosome 10, 100750720: 100750720
9 PAX2 NM_003988.4(PAX2): c.740G> A (p.Arg247His) single nucleotide variant Uncertain significance rs747639879 GRCh37 Chromosome 10, 102566310: 102566310
10 PAX2 NM_003988.4(PAX2): c.740G> A (p.Arg247His) single nucleotide variant Uncertain significance rs747639879 GRCh38 Chromosome 10, 100806553: 100806553
11 PAX2 NM_003988.4(PAX2): c.867C> G (p.Asn289Lys) single nucleotide variant Likely benign rs199724772 GRCh37 Chromosome 10, 102568941: 102568941
12 PAX2 NM_003988.4(PAX2): c.867C> G (p.Asn289Lys) single nucleotide variant Likely benign rs199724772 GRCh38 Chromosome 10, 100809184: 100809184

Expression for Focal Segmental Glomerulosclerosis 7

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

Pathways for Focal Segmental Glomerulosclerosis 7

GO Terms for Focal Segmental Glomerulosclerosis 7

Sources for Focal Segmental Glomerulosclerosis 7

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
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
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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