MCID: NPH054
MIFTS: 30

Nephrotic Syndrome, Type 3

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

Aliases & Classifications for Nephrotic Syndrome, Type 3

MalaCards integrated aliases for Nephrotic Syndrome, Type 3:

Name: Nephrotic Syndrome, Type 3 57 29 13 6 40 73
Nphs3 57 75
Nephrotic Syndrome, Early-Onset, Type 3 57
Early-Onset Nephrotic Syndrome Type 3 75
Nephrotic Syndrome 3 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy or childhood
progressive disorder


HPO:

32
nephrotic syndrome, type 3:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive childhood onset


Classifications:



Summaries for Nephrotic Syndrome, Type 3

OMIM : 57 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 nphs3, is related to nephrotic syndrome and gastric adenocarcinoma, 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 Ras signaling pathway and G-AlphaQ Signaling. Affiliated tissues include kidney, and related phenotypes are proteinuria and focal segmental glomerulosclerosis

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Kidneys:
nephrotic syndrome
diffuse mesangial sclerosis
focal segmental glomerulosclerosis

Laboratory Abnormalities:
proteinuria
hypoalbuminemia

Muscle Soft Tissue:
edema


Clinical features from OMIM:

610725

Human phenotypes related to Nephrotic Syndrome, Type 3:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 proteinuria 32 HP:0000093
2 focal segmental glomerulosclerosis 32 HP:0000097
3 nephrotic syndrome 32 HP:0000100
4 edema 32 HP:0000969
5 diffuse mesangial sclerosis 32 HP:0001967
6 hypoalbuminemia 32 HP:0003073
7 stage 5 chronic kidney disease 32 HP:0003774

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 29 PLCE1

Anatomical Context for Nephrotic Syndrome, Type 3

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

41
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:

75
# 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 42)
# Gene Variation Type Significance SNP ID Assembly Location
1 PLCE1 NM_016341.3(PLCE1): c.1477C> T (p.Arg493Ter) single nucleotide variant Pathogenic rs121912601 GRCh38 Chromosome 10, 94132444: 94132444
2 PLCE1 NM_016341.3(PLCE1): c.3346C> T (p.Arg1116Ter) single nucleotide variant Pathogenic rs121912602 GRCh37 Chromosome 10, 96014013: 96014013
3 PLCE1 NM_016341.3(PLCE1): c.3346C> T (p.Arg1116Ter) single nucleotide variant Pathogenic rs121912602 GRCh38 Chromosome 10, 94254256: 94254256
4 PLCE1 NM_016341.3(PLCE1): c.3846delG (p.Leu1283Cysfs) deletion Pathogenic rs876657370 GRCh37 Chromosome 10, 96022282: 96022282
5 PLCE1 NM_016341.3(PLCE1): c.3846delG (p.Leu1283Cysfs) deletion Pathogenic rs876657370 GRCh38 Chromosome 10, 94262525: 94262525
6 PLCE1 NM_016341.3(PLCE1): c.4846C> T (p.Gln1616Ter) single nucleotide variant Pathogenic rs121912603 GRCh37 Chromosome 10, 96043597: 96043597
7 PLCE1 NM_016341.3(PLCE1): c.1146delG (p.Ser383Glnfs) deletion Pathogenic rs876657369 GRCh38 Chromosome 10, 94032192: 94032192
8 PLCE1 NM_016341.3(PLCE1): c.1146delG (p.Ser383Glnfs) deletion Pathogenic rs876657369 GRCh37 Chromosome 10, 95791949: 95791949
9 PLCE1 NM_016341.3(PLCE1): c.1477C> T (p.Arg493Ter) single nucleotide variant Pathogenic rs121912601 GRCh37 Chromosome 10, 95892201: 95892201
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
41 PLCE1 NM_016341.3(PLCE1): c.5890C> T (p.Arg1964Ter) single nucleotide variant Pathogenic rs775052849 GRCh37 Chromosome 10, 96068343: 96068343
42 PLCE1 NM_016341.3(PLCE1): c.5890C> T (p.Arg1964Ter) single nucleotide variant Pathogenic rs775052849 GRCh38 Chromosome 10, 94308586: 94308586

Expression for Nephrotic Syndrome, Type 3

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

Pathways for Nephrotic Syndrome, Type 3

GO Terms for Nephrotic Syndrome, Type 3

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

# Name GO ID Score Top Affiliating Genes
1 intracellular signal transduction GO:0035556 8.62 BRAF PLCE1

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

# Name GO ID Score Top Affiliating Genes
1 obsolete signal transducer activity, downstream of receptor GO:0005057 8.96 BRAF PLCE1
2 Ras GTPase binding GO:0017016 8.62 BRAF PLCE1

Sources for Nephrotic Syndrome, Type 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
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34 ICD10 via Orphanet
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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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