MCID: GLM041
MIFTS: 25

Glomerulosclerosis, Focal Segmental, 7

Categories: Genetic diseases, Nephrological diseases, Rare diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Glomerulosclerosis, Focal Segmental, 7

MalaCards integrated aliases for Glomerulosclerosis, Focal Segmental, 7:

Name: Glomerulosclerosis, Focal Segmental, 7 54 24
Focal Segmental Glomerulosclerosis 7 12 24 71 29 69
Fsgs7 12 24 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

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


HPO:

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


Classifications:



External Ids:

OMIM 54 616002
Disease Ontology 12 DOID:0111132
ICD10 33 N04.1
MedGen 40 CN219277
MeSH 42 D005923

Summaries for Glomerulosclerosis, Focal Segmental, 7

OMIM : 54
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 : Glomerulosclerosis, Focal Segmental, 7, is also known as focal segmental glomerulosclerosis 7, and has symptoms including proteinuria, renal hypoplasia and nephrotic syndrome. An important gene associated with Glomerulosclerosis, Focal Segmental, 7 is PAX2 (Paired Box 2). The drugs Valproic Acid and Anticonvulsants have been mentioned in the context of this disorder. Affiliated tissues include kidney.

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 : 71 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 Glomerulosclerosis, Focal Segmental, 7

Symptoms & Phenotypes for Glomerulosclerosis, Focal Segmental, 7

Symptoms via clinical synopsis from OMIM:

54

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 Glomerulosclerosis, Focal Segmental, 7:

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

Drugs & Therapeutics for Glomerulosclerosis, Focal Segmental, 7

Drugs for Glomerulosclerosis, Focal Segmental, 7 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 16)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Valproic Acid Approved, Investigational Phase 2, Phase 3 99-66-1 3121
2 Anticonvulsants Phase 2, Phase 3
3 Antimanic Agents Phase 2, Phase 3
4 Central Nervous System Depressants Phase 2, Phase 3
5 GABA Agents Phase 2, Phase 3
6 Immunosuppressive Agents Phase 2, Phase 3
7 Neurotransmitter Agents Phase 2, Phase 3
8 Psychotropic Drugs Phase 2, Phase 3
9 Tranquilizing Agents Phase 2, Phase 3
10
Irbesartan Approved, Investigational Phase 2 138402-11-6 3749
11
Angiotensin II Investigational Phase 2 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
12 Mitogens Phase 2
13 Angiotensin II Type 1 Receptor Blockers Phase 2
14 Angiotensin Receptor Antagonists Phase 2
15 Angiotensinogen Phase 2
16 Antihypertensive Agents Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Valproic Acid for Idiopathic Nephrotic Syndrome Recruiting NCT02896270 Phase 2, Phase 3 Valproic Acid
2 A Phase II, Repeat Dose, Proof of Mechanism Study of Losmapimod to Reduce Proteinuria in Patients With Focal Segmental Glomerulosclerosis (FSGS) Completed NCT02000440 Phase 2 Losmapimod
3 Retinoids for Minimal Change Disease and Focal Segmental Glomerulosclerosis Completed NCT00098020 Phase 1, Phase 2 Retinoids for Podocyte Disease
4 Randomized, Double-Blind, Safety and Efficacy Study of RE-021 (Sparsentan) in Focal Segmental Glomerulosclerosis Active, not recruiting NCT01613118 Phase 2 RE-021 (Sparsentan);Irbesartan

Search NIH Clinical Center for Glomerulosclerosis, Focal Segmental, 7

Genetic Tests for Glomerulosclerosis, Focal Segmental, 7

Genetic tests related to Glomerulosclerosis, Focal Segmental, 7:

id Genetic test Affiliating Genes
1 Focal Segmental Glomerulosclerosis 7 29 24 PAX2

Anatomical Context for Glomerulosclerosis, Focal Segmental, 7

MalaCards organs/tissues related to Glomerulosclerosis, Focal Segmental, 7:

39
Kidney

Publications for Glomerulosclerosis, Focal Segmental, 7

Variations for Glomerulosclerosis, Focal Segmental, 7

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

71
id 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 Glomerulosclerosis, Focal Segmental, 7:

6
id 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.167G> A (p.Arg56Gln) single nucleotide variant Pathogenic rs587777708 GRCh38 Chromosome 10, 100749869: 100749869

Expression for Glomerulosclerosis, Focal Segmental, 7

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

Pathways for Glomerulosclerosis, Focal Segmental, 7

GO Terms for Glomerulosclerosis, Focal Segmental, 7

Sources for Glomerulosclerosis, Focal Segmental, 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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