FSGS10
MCID: FCL091
MIFTS: 27

Focal Segmental Glomerulosclerosis 10 (FSGS10)

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

Aliases & Classifications for Focal Segmental Glomerulosclerosis 10

MalaCards integrated aliases for Focal Segmental Glomerulosclerosis 10:

Name: Focal Segmental Glomerulosclerosis 10 57 29 6
Nail-Patella-Like Renal Disease 57 58
Glomerular Basement Membrane Disease, Nail-Patella Syndrome Type 57
Glomerulosclerosis, Focal Segmental, 10 57
Nail-Patella-Like Renal Disease; Nplrd 57
Nail Patella-Like Renal Disease 29
Salcedo Syndrome 58
Fsgs10 57
Nplrd 57

Characteristics:

Orphanet epidemiological data:

58
nail-patella-like renal disease
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: late childhood;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype and severity
variable age at onset (range early childhood to late adult)
progressive disorder (in some patients)
renal biopsy findings are highly variable, even within the same family
no extrarenal manifestations


HPO:

31
focal segmental glomerulosclerosis 10:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare renal diseases


External Ids:

OMIM® 57 256020
OMIM Phenotypic Series 57 PS603278
UMLS via Orphanet 72 C0403548
Orphanet 58 ORPHA2613
MedGen 41 C0403548

Summaries for Focal Segmental Glomerulosclerosis 10

OMIM® : 57 Focal segmental glomerulosclerosis-10 (FSGS10) is an autosomal dominant kidney disease characterized by isolated glomerulopathy without extrarenal manifestations. In particular, affected individuals do not have other signs of NPS. The renal disease is highly variable in severity and pathology, even within the same family. Most patients present in the first decades of life with proteinuria and hematuria, although onset of symptoms can manifest at any age, including late adulthood. Some patients progress to end-stage renal disease, whereas others have a stable disease course. Light microscopic analysis of renal biopsies shows a constellation of glomerular abnormalities, including focal segmental glomerulosclerosis (FSGS), minimal change disease (MCD), and, rarely, immune complex nephropathy. Electron microscopy characteristically shows an irregular thickening of the glomerular basement membrane (GBM) with electron-lucent areas containing accumulated bundles of type III collagen fibrils. The collagen deposition usually occurs in endothelial cells of the GBM; partial effacement of podocyte foot processes may also be present. These specific pathologic findings are similar to those observed in NPS patients with nephropathy. However, these findings may not always be present, which may make the diagnosis challenging (summary by Hall et al., 2017, Lei et al., 2020; review by Harita et al., 2017). For a discussion of genetic heterogeneity of FSGS, see FSGS1 (603278). (256020) (Updated 05-Mar-2021)

MalaCards based summary : Focal Segmental Glomerulosclerosis 10, also known as nail-patella-like renal disease, is related to salcedo syndrome and nail-patella syndrome. An important gene associated with Focal Segmental Glomerulosclerosis 10 is LMX1B (LIM Homeobox Transcription Factor 1 Beta). Affiliated tissues include endothelial and kidney, and related phenotypes are hypertension and short stature

Related Diseases for Focal Segmental Glomerulosclerosis 10

Graphical network of the top 20 diseases related to Focal Segmental Glomerulosclerosis 10:



Diseases related to Focal Segmental Glomerulosclerosis 10

Symptoms & Phenotypes for Focal Segmental Glomerulosclerosis 10

Human phenotypes related to Focal Segmental Glomerulosclerosis 10:

58 31 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 58 31 hallmark (90%) Very frequent (99-80%) HP:0000822
2 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
3 proteinuria 58 31 hallmark (90%) Very frequent (99-80%) HP:0000093
4 renal insufficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0000083
5 glomerulopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0100820
6 microscopic hematuria 58 31 hallmark (90%) Very frequent (99-80%) HP:0002907
7 nephropathy 31 HP:0000112
8 abnormality of the skeletal system 31 HP:0000924

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Laboratory Abnormalities:
proteinuria
hematuria

Cardiovascular Vascular:
hypertension (in some patients)

Genitourinary Kidneys:
nephropathy
chronic kidney disease
end-stage renal disease
kidney disease
biopsy shows focal segmental glomerulosclerosis
more

Clinical features from OMIM®:

256020 (Updated 05-Mar-2021)

Drugs & Therapeutics for Focal Segmental Glomerulosclerosis 10

Search Clinical Trials , NIH Clinical Center for Focal Segmental Glomerulosclerosis 10

Genetic Tests for Focal Segmental Glomerulosclerosis 10

Genetic tests related to Focal Segmental Glomerulosclerosis 10:

# Genetic test Affiliating Genes
1 Focal Segmental Glomerulosclerosis 10 29
2 Nail Patella-Like Renal Disease 29 LMX1B

Anatomical Context for Focal Segmental Glomerulosclerosis 10

MalaCards organs/tissues related to Focal Segmental Glomerulosclerosis 10:

40
Endothelial, Kidney

Publications for Focal Segmental Glomerulosclerosis 10

Articles related to Focal Segmental Glomerulosclerosis 10:

(show all 12)
# Title Authors PMID Year
1
Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report. 6 57 61
32791958 2020
2
Dysregulation of WTI (-KTS) is Associated with the Kidney-Specific Effects of the LMX1B R246Q Mutation. 61 57 6
28059119 2017
3
LMX1B mutation with residual transcriptional activity as a cause of isolated glomerulopathy. 61 6 57
24042019 2014
4
LMX1B mutations cause hereditary FSGS without extrarenal involvement. 61 6 57
23687361 2013
5
Myelin bodies in LMX1B-associated nephropathy: potential for misdiagnosis. 6 57
32356190 2020
6
Spectrum of LMX1B mutations: from nail-patella syndrome to isolated nephropathy. 57
27450397 2017
7
Nail-patella glomerulopathy without associated constitutional abnormalities. 57
14708727 2003
8
An autosomal recessive disorder with glomerular basement membrane abnormalities similar to those seen in the nail patella syndrome: report of a kindred. 57
6507504 1984
9
Nail patella-like renal lesions in the absence of skeletal abnormalities. 57
7158631 1982
10
A novel LMX1B mutation in a family with end-stage renal disease of 'unknown cause'. 61
25713721 2015
11
Short- and long-term prognosis of blood pressure and kidney disease in women with a past history of preeclampsia. 61
18180874 2008
12
Thin glomerular basement membrane nephropathy: incidence in 3471 consecutive renal biopsies examined by electron microscopy. 61
16683888 2006

Variations for Focal Segmental Glomerulosclerosis 10

ClinVar genetic disease variations for Focal Segmental Glomerulosclerosis 10:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LMX1B NM_001174146.2(LMX1B):c.737G>A SNV Pathogenic 498798 rs1191455921 9:129455598-129455598 9:126693319-126693319
2 LMX1B NM_001174147.2(LMX1B):c.737G>C (p.Arg246Pro) SNV Pathogenic 812901 rs1191455921 9:129455598-129455598 9:126693319-126693319

Expression for Focal Segmental Glomerulosclerosis 10

Search GEO for disease gene expression data for Focal Segmental Glomerulosclerosis 10.

Pathways for Focal Segmental Glomerulosclerosis 10

GO Terms for Focal Segmental Glomerulosclerosis 10

Sources for Focal Segmental Glomerulosclerosis 10

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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