NPHS3
MCID: NPH054
MIFTS: 35

Nephrotic Syndrome, Type 3 (NPHS3)

Categories: Blood diseases, Endocrine diseases, Genetic diseases, Immune diseases, Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Nephrotic Syndrome, Type 3

MalaCards integrated aliases for Nephrotic Syndrome, Type 3:

Name: Nephrotic Syndrome, Type 3 58 30 13 6 41 74
Nephrotic Syndrome Type 3 12 15
Nphs3 58 76
Nephrotic Syndrome, Early-Onset, Type 3 58
Early Onset Nephrotic Syndrome Type 3 12
Early-Onset Nephrotic Syndrome Type 3 76
Nephrotic Syndrome 3 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in infancy or childhood


HPO:

33
nephrotic syndrome, type 3:
Onset and clinical course childhood onset progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Nephrotic Syndrome, Type 3

OMIM : 58 Nephrotic syndrome, a malfunction of the glomerular filter, is characterized clinically by proteinuria, edema, and end-stage renal disease (ESRD). Renal histopathology may show diffuse mesangial sclerosis (DMS) or focal segmental glomerulosclerosis (FSGS) (Hinkes et al., 2006). Most patients with NPHS3 show diffuse mesangial sclerosis on renal biopsy, which is a pathologic entity characterized by mesangial matrix expansion with no mesangial hypercellularity, hypertrophy of the podocytes, vacuolized podocytes, thickened basement membranes, and diminished patency of the capillary lumen (Gbadegesin et al., 2008). For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 (256300). (610725)

MalaCards based summary : Nephrotic Syndrome, Type 3, also known as nephrotic syndrome type 3, is related to diffuse mesangial sclerosis and nephrotic syndrome, and has symptoms including edema An important gene associated with Nephrotic Syndrome, Type 3 is PLCE1 (Phospholipase C Epsilon 1), and among its related pathways/superpathways are NFAT and Cardiac Hypertrophy and Ras signaling pathway. Affiliated tissues include kidney, and related phenotypes are proteinuria and edema

Disease Ontology : 12 A familial nephrotic syndrome characterized by early childhood onset, steroid restance and diffuse mesangial sclerosis in most patients that has material basis in homozygous or compound heterozygous mutation in the PLCE1 gene on chromosome 10q23.

UniProtKB/Swiss-Prot : 76 Nephrotic syndrome 3: A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non- specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure. Most patients with NPHS3 show diffuse mesangial sclerosis on renal biopsy, which is a pathologic entity characterized by mesangial matrix expansion with no mesangial hypercellularity, hypertrophy of the podocytes, vacuolized podocytes, thickened basement membranes, and diminished patency of the capillary lumen.

Related Diseases for Nephrotic Syndrome, Type 3

Symptoms & Phenotypes for Nephrotic Syndrome, Type 3

Human phenotypes related to Nephrotic Syndrome, Type 3:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 proteinuria 33 HP:0000093
2 edema 33 HP:0000969
3 nephrotic syndrome 33 HP:0000100
4 stage 5 chronic kidney disease 33 HP:0003774
5 hypoalbuminemia 33 HP:0003073
6 focal segmental glomerulosclerosis 33 HP:0000097
7 diffuse mesangial sclerosis 33 HP:0001967

Symptoms via clinical synopsis from OMIM:

58
Laboratory Abnormalities:
proteinuria
hypoalbuminemia

Genitourinary Kidneys:
nephrotic syndrome
focal segmental glomerulosclerosis
diffuse mesangial sclerosis

Muscle Soft Tissue:
edema

Clinical features from OMIM:

610725

UMLS symptoms related to Nephrotic Syndrome, Type 3:


edema

Drugs & Therapeutics for Nephrotic Syndrome, Type 3

Search Clinical Trials , NIH Clinical Center for Nephrotic Syndrome, Type 3

Genetic Tests for Nephrotic Syndrome, Type 3

Genetic tests related to Nephrotic Syndrome, Type 3:

# Genetic test Affiliating Genes
1 Nephrotic Syndrome, Type 3 30 PLCE1

Anatomical Context for Nephrotic Syndrome, Type 3

MalaCards organs/tissues related to Nephrotic Syndrome, Type 3:

42
Kidney

Publications for Nephrotic Syndrome, Type 3

Articles related to Nephrotic Syndrome, Type 3:

# Title Authors Year
1
Identification of BRAF as a new interactor of PLCepsilon1, the protein mutated in nephrotic syndrome type 3. ( 17942568 )
2008

Variations for Nephrotic Syndrome, Type 3

UniProtKB/Swiss-Prot genetic disease variations for Nephrotic Syndrome, Type 3:

76
# Symbol AA change Variation ID SNP ID
1 PLCE1 p.Ser1484Leu VAR_029883 rs121912605

ClinVar genetic disease variations for Nephrotic Syndrome, Type 3:

6 (show all 40)
# Gene Variation Type Significance SNP ID Assembly Location
1 PLCE1 NM_016341.3(PLCE1): c.1146delG (p.Ser383Glnfs) deletion Pathogenic rs876657369 GRCh38 Chromosome 10, 94032192: 94032192
2 PLCE1 NM_016341.3(PLCE1): c.1146delG (p.Ser383Glnfs) deletion Pathogenic rs876657369 GRCh37 Chromosome 10, 95791949: 95791949
3 PLCE1 NM_016341.3(PLCE1): c.1477C> T (p.Arg493Ter) single nucleotide variant Pathogenic rs121912601 GRCh37 Chromosome 10, 95892201: 95892201
4 PLCE1 NM_016341.3(PLCE1): c.1477C> T (p.Arg493Ter) single nucleotide variant Pathogenic rs121912601 GRCh38 Chromosome 10, 94132444: 94132444
5 PLCE1 NM_016341.3(PLCE1): c.3346C> T (p.Arg1116Ter) single nucleotide variant Pathogenic rs121912602 GRCh37 Chromosome 10, 96014013: 96014013
6 PLCE1 NM_016341.3(PLCE1): c.3346C> T (p.Arg1116Ter) single nucleotide variant Pathogenic rs121912602 GRCh38 Chromosome 10, 94254256: 94254256
7 PLCE1 NM_016341.3(PLCE1): c.3846delG (p.Leu1283Cysfs) deletion Pathogenic rs876657370 GRCh37 Chromosome 10, 96022282: 96022282
8 PLCE1 NM_016341.3(PLCE1): c.3846delG (p.Leu1283Cysfs) deletion Pathogenic rs876657370 GRCh38 Chromosome 10, 94262525: 94262525
9 PLCE1 NM_016341.3(PLCE1): c.4846C> T (p.Gln1616Ter) single nucleotide variant Pathogenic rs121912603 GRCh37 Chromosome 10, 96043597: 96043597
10 PLCE1 NM_016341.3(PLCE1): c.4846C> T (p.Gln1616Ter) single nucleotide variant Pathogenic rs121912603 GRCh38 Chromosome 10, 94283840: 94283840
11 PLCE1 NM_016341.3(PLCE1): c.5560C> T (p.Gln1854Ter) single nucleotide variant Pathogenic rs121912604 GRCh37 Chromosome 10, 96064340: 96064340
12 PLCE1 NM_016341.3(PLCE1): c.5560C> T (p.Gln1854Ter) single nucleotide variant Pathogenic rs121912604 GRCh38 Chromosome 10, 94304583: 94304583
13 PLCE1 NM_016341.3(PLCE1): c.4451C> T (p.Ser1484Leu) single nucleotide variant Pathogenic rs121912605 GRCh37 Chromosome 10, 96030304: 96030304
14 PLCE1 NM_016341.3(PLCE1): c.4451C> T (p.Ser1484Leu) single nucleotide variant Pathogenic rs121912605 GRCh38 Chromosome 10, 94270547: 94270547
15 PLCE1 NM_016341.3(PLCE1): c.6448C> T (p.Arg2150Ter) single nucleotide variant Pathogenic rs267606953 GRCh37 Chromosome 10, 96081763: 96081763
16 PLCE1 NM_016341.3(PLCE1): c.6448C> T (p.Arg2150Ter) single nucleotide variant Pathogenic rs267606953 GRCh38 Chromosome 10, 94322006: 94322006
17 PLCE1 NM_016341.3(PLCE1): c.961C> T (p.Arg321Ter) single nucleotide variant Pathogenic rs267606954 GRCh37 Chromosome 10, 95791764: 95791764
18 PLCE1 NM_016341.3(PLCE1): c.961C> T (p.Arg321Ter) single nucleotide variant Pathogenic rs267606954 GRCh38 Chromosome 10, 94032007: 94032007
19 PLCE1 NM_016341.3(PLCE1): c.3736C> T (p.Arg1246Ter) single nucleotide variant Pathogenic rs267606955 GRCh37 Chromosome 10, 96018829: 96018829
20 PLCE1 NM_016341.3(PLCE1): c.3736C> T (p.Arg1246Ter) single nucleotide variant Pathogenic rs267606955 GRCh38 Chromosome 10, 94259072: 94259072
21 PLCE1 NM_016341.3(PLCE1): c.810T> C (p.Cys270=) single nucleotide variant Benign rs17109671 GRCh38 Chromosome 10, 94031856: 94031856
22 PLCE1 NM_016341.3(PLCE1): c.810T> C (p.Cys270=) single nucleotide variant Benign rs17109671 GRCh37 Chromosome 10, 95791613: 95791613
23 PLCE1 NM_016341.3(PLCE1): c.960G> A (p.Glu320=) single nucleotide variant Benign rs17109674 GRCh37 Chromosome 10, 95791763: 95791763
24 PLCE1 NM_016341.3(PLCE1): c.960G> A (p.Glu320=) single nucleotide variant Benign rs17109674 GRCh38 Chromosome 10, 94032006: 94032006
25 PLCE1 NM_016341.3(PLCE1): c.1643G> T (p.Arg548Leu) single nucleotide variant Benign rs17417407 GRCh38 Chromosome 10, 94171330: 94171330
26 PLCE1 NM_016341.3(PLCE1): c.1643G> T (p.Arg548Leu) single nucleotide variant Benign rs17417407 GRCh37 Chromosome 10, 95931087: 95931087
27 PLCE1 NM_016341.3(PLCE1): c.4724G> C (p.Arg1575Pro) single nucleotide variant Benign rs2274224 GRCh38 Chromosome 10, 94279840: 94279840
28 PLCE1 NM_016341.3(PLCE1): c.4724G> C (p.Arg1575Pro) single nucleotide variant Benign rs2274224 GRCh37 Chromosome 10, 96039597: 96039597
29 PLCE1 NM_016341.3(PLCE1): c.5035+12C> A single nucleotide variant Benign rs3736901 GRCh38 Chromosome 10, 94284977: 94284977
30 PLCE1 NM_016341.3(PLCE1): c.5035+12C> A single nucleotide variant Benign rs3736901 GRCh37 Chromosome 10, 96044734: 96044734
31 PLCE1 NM_016341.3(PLCE1): c.5330C> T (p.Thr1777Ile) single nucleotide variant Benign rs3765524 GRCh38 Chromosome 10, 94298541: 94298541
32 PLCE1 NM_016341.3(PLCE1): c.5330C> T (p.Thr1777Ile) single nucleotide variant Benign rs3765524 GRCh37 Chromosome 10, 96058298: 96058298
33 PLCE1 NM_016341.3(PLCE1): c.5780A> G (p.His1927Arg) single nucleotide variant Benign rs2274223 GRCh38 Chromosome 10, 94306584: 94306584
34 PLCE1 NM_016341.3(PLCE1): c.5780A> G (p.His1927Arg) single nucleotide variant Benign rs2274223 GRCh37 Chromosome 10, 96066341: 96066341
35 PLCE1 NM_016341.3(PLCE1): c.5549G> A (p.Cys1850Tyr) single nucleotide variant Uncertain significance rs776276690 GRCh37 Chromosome 10, 96064329: 96064329
36 PLCE1 NM_016341.3(PLCE1): c.5549G> A (p.Cys1850Tyr) single nucleotide variant Uncertain significance rs776276690 GRCh38 Chromosome 10, 94304572: 94304572
37 PLCE1 NM_016341.3(PLCE1): c.6093T> C (p.Thr2031=) single nucleotide variant no interpretation for the single variant rs886039891 GRCh37 Chromosome 10, 96073100: 96073100
38 PLCE1 NM_016341.3(PLCE1): c.6093T> C (p.Thr2031=) single nucleotide variant no interpretation for the single variant rs886039891 GRCh38 Chromosome 10, 94313343: 94313343
39 PLCE1 NM_016341.3(PLCE1): c.6800G> A (p.Arg2267Gln) single nucleotide variant no interpretation for the single variant rs886039892 GRCh37 Chromosome 10, 96084728: 96084728
40 PLCE1 NM_016341.3(PLCE1): c.6800G> A (p.Arg2267Gln) single nucleotide variant no interpretation for the single variant rs886039892 GRCh38 Chromosome 10, 94324971: 94324971

Expression for Nephrotic Syndrome, Type 3

Search GEO for disease gene expression data for Nephrotic Syndrome, Type 3.

Pathways for Nephrotic Syndrome, Type 3

Pathways related to Nephrotic Syndrome, Type 3 according to GeneCards Suite gene sharing:

(show all 27)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.52 BRAF PLCE1 PLCG1
2
Show member pathways
12.37 BRAF PLCE1 PLCG1
3
Show member pathways
12.3 BRAF PLCE1 PLCG1
4
Show member pathways
12.29 BRAF PLCE1 PLCG1
5
Show member pathways
12.03 BRAF IQGAP1 PLCE1
6
Show member pathways
11.97 BRAF IQGAP1 PLCG1
7
Show member pathways
11.91 BRAF PLCE1 PLCG1
8
Show member pathways
11.89 BRAF PLCE1 PLCG1
9 11.7 PLCE1 PLCG1
10
Show member pathways
11.68 PLCE1 PLCG1
11 11.63 BRAF IQGAP1
12 11.62 PLCE1 PLCG1
13 11.57 BRAF PLCG1
14
Show member pathways
11.56 IQGAP1 PLCG1
15 11.56 BRAF IQGAP1 PLCE1 PLCG1
16 11.51 PLCE1 PLCG1
17
Show member pathways
11.46 BRAF PLCE1 PLCG1
18 11.44 PLCE1 PLCG1
19 11.42 BRAF PLCE1 PLCG1
20 11.38 BRAF PLCE1 PLCG1
21 11.34 BRAF PLCE1 PLCG1
22 11.24 BRAF PLCG1
23 11.16 PLCE1 PLCG1
24 11.14 BRAF IQGAP1 PLCE1 PLCG1
25 11 PLCE1 PLCG1
26 10.99 BRAF PLCG1
27 10.99 BRAF PLCE1 PLCG1

GO Terms for Nephrotic Syndrome, Type 3

Cellular components related to Nephrotic Syndrome, Type 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ruffle GO:0001726 8.62 IQGAP1 PLCG1

Biological processes related to Nephrotic Syndrome, Type 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 T cell receptor signaling pathway GO:0050852 9.43 BRAF PLCG1
2 intracellular signal transduction GO:0035556 9.43 BRAF PLCE1 PLCG1
3 lipid catabolic process GO:0016042 9.4 PLCE1 PLCG1
4 calcium-mediated signaling GO:0019722 9.37 PLCE1 PLCG1
5 cellular response to calcium ion GO:0071277 9.32 BRAF IQGAP1
6 cellular response to epidermal growth factor stimulus GO:0071364 9.16 IQGAP1 PLCG1
7 inositol phosphate metabolic process GO:0043647 8.96 PLCE1 PLCG1
8 epidermal growth factor receptor signaling pathway GO:0007173 8.8 IQGAP1 PLCE1 PLCG1

Molecular functions related to Nephrotic Syndrome, Type 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphoric diester hydrolase activity GO:0008081 9.26 PLCE1 PLCG1
2 phosphatidylinositol phospholipase C activity GO:0004435 9.16 PLCE1 PLCG1
3 small GTPase binding GO:0031267 8.96 BRAF IQGAP1
4 phospholipase C activity GO:0004629 8.62 PLCE1 PLCG1

Sources for Nephrotic Syndrome, Type 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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