NPHS7
MCID: NPH072
MIFTS: 40

Nephrotic Syndrome, Type 7 (NPHS7)

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

Aliases & Classifications for Nephrotic Syndrome, Type 7

MalaCards integrated aliases for Nephrotic Syndrome, Type 7:

Name: Nephrotic Syndrome, Type 7 57 29 13 6 39 70
Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 7 57 29 6
Immunoglobulin-Mediated Membranoproliferative Glomerulonephritis 12 58
Ig-Mediated Membranoproliferative Glomerulonephritis 12 58
Immunoglobulin-Mediated Mpgn 12 58
Nephrotic Syndrome Type 7 12 15
Ig-Mediated Mpgn 12 58
Nphs7 57 72
Nephrotic Syndrome, Type 7, with Membranoproliferative Glomerulonephritis 57
Nephrotic Syndrome Type 7 with Membranoptoliferative Glomerulonephritis 12
Nephrotic Syndrome Type 7 with Membranoproliferative Glomerulonephritis 72
Hemolytic Uremic Syndrome with Dgke Deficiency 58
Hemolytic Uremic Syndrome, Atypical 7 57
Hemolytic Uremic Syndrome Atypical 7 72
Hus with Dgke Deficiency 58
Nephrotic Syndrome 7 72
Ahus7 72

Characteristics:

Orphanet epidemiological data:

58
hemolytic uremic syndrome with dgke deficiency
Inheritance: Autosomal recessive,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset usually in the first decade (range 0.8 to 5 years)
atypical hemolytic-uremic syndrome shows onset in first 12 months
some patients may show response to immunosuppressive agents
some patients do not reach end-stage renal failure


HPO:

31
nephrotic syndrome, type 7:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:

Orphanet: 58  
Rare renal diseases
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:0080388
OMIM® 57 615008
OMIM Phenotypic Series 57 PS235400 PS256300
ICD10 via Orphanet 33 D58.8 N03.5
UMLS via Orphanet 71 C0268742 C1720821
UMLS 70 C3554330

Summaries for Nephrotic Syndrome, Type 7

OMIM® : 57 Nephrotic syndrome type 7 is an autosomal recessive renal disease characterized by onset of nephrotic syndrome with proteinuria usually in the first decade of life. The disorder is progressive, and some patients develop end-stage renal disease within several years. Renal biopsy typically shows membranoproliferative glomerulonephritis. Some patients may benefit from immunosuppressive therapy (summary by Ozaltin et al., 2013). Atypical hemolytic uremic syndrome-7 is characterized by acute onset in the first year of life of microangiopathic hemolytic anemia, thrombocytopenia, and renal failure. After the acute episode, most patients develop chronic renal insufficiency. Unlike other genetic forms of aHUS, AHUS7 is not related to abnormal activation of the complement system (summary by Lemaire et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300). For a general phenotypic description and a discussion of genetic heterogeneity of aHUS, see AHUS1 (235400). (615008) (Updated 20-May-2021)

MalaCards based summary : Nephrotic Syndrome, Type 7, also known as hemolytic uremic syndrome, atypical, susceptibility to, 7, is related to c3 glomerulopathy and membranoproliferative glomerulonephritis. An important gene associated with Nephrotic Syndrome, Type 7 is DGKE (Diacylglycerol Kinase Epsilon), and among its related pathways/superpathways are Metabolism and superpathway of inositol phosphate compounds. Affiliated tissues include kidney and endothelial, and related phenotypes are thrombocytopenia and hemolytic anemia

Disease Ontology : 12 A familial nephrotic syndrome characterized by onset in the first decade of life of progressive renal disease with proteinuria and membranoproliferative glomerulonephritis that has material basis in homozygous or compound heterozygous mutation in the DGKE gene on chromosome 17q22.

UniProtKB/Swiss-Prot : 72 Hemolytic uremic syndrome atypical 7: An atypical form of hemolytic uremic syndrome characterized by acute onset in the first year of life of microangiopathic hemolytic anemia, thrombocytopenia, and renal failure. After the acute episode, most patients develop chronic renal insufficiency. Unlike other genetic forms of aHUS, AHUS7 is not related to abnormal activation of the complement system.
Nephrotic syndrome 7: A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. NPHS7 is an autosomal recessive form characterized by onset of proteinuria usually in the first decade of life. The disorder is progressive, and some patients develop end-stage renal disease within several years. Renal biopsy typically shows membranoproliferative glomerulonephritis.

Related Diseases for Nephrotic Syndrome, Type 7

Graphical network of the top 20 diseases related to Nephrotic Syndrome, Type 7:



Diseases related to Nephrotic Syndrome, Type 7

Symptoms & Phenotypes for Nephrotic Syndrome, Type 7

Human phenotypes related to Nephrotic Syndrome, Type 7:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 thrombocytopenia 31 occasional (7.5%) HP:0001873
2 hemolytic anemia 31 occasional (7.5%) HP:0001878
3 stage 5 chronic kidney disease 31 occasional (7.5%) HP:0003774
4 hemolytic-uremic syndrome 31 occasional (7.5%) HP:0005575
5 proteinuria 31 HP:0000093
6 nephrotic syndrome 31 HP:0000100
7 acute kidney injury 31 HP:0001919
8 glomerulonephritis 31 HP:0000099
9 thickened glomerular basement membrane 31 HP:0004722

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Genitourinary Kidneys:
proteinuria
nephrotic syndrome
thickening of the glomerular basement membrane
acute renal failure
effacement of podocyte foot processes
more
Laboratory Abnormalities:
low serum albumin
normal serum complement levels

Hematology:
thrombocytopenia (in some patients)
hemolytic anemia (in some patients)

Clinical features from OMIM®:

615008 (Updated 20-May-2021)

Drugs & Therapeutics for Nephrotic Syndrome, Type 7

Search Clinical Trials , NIH Clinical Center for Nephrotic Syndrome, Type 7

Genetic Tests for Nephrotic Syndrome, Type 7

Genetic tests related to Nephrotic Syndrome, Type 7:

# Genetic test Affiliating Genes
1 Nephrotic Syndrome, Type 7 29 DGKE
2 Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 7 29

Anatomical Context for Nephrotic Syndrome, Type 7

MalaCards organs/tissues related to Nephrotic Syndrome, Type 7:

40
Kidney, Endothelial

Publications for Nephrotic Syndrome, Type 7

Articles related to Nephrotic Syndrome, Type 7:

# Title Authors PMID Year
1
Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome. 57 6
23542698 2013
2
DGKE variants cause a glomerular microangiopathy that mimics membranoproliferative GN. 6 57
23274426 2013
3
Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome. 6
29127259 2018
4
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. 6
25349199 2015
5
C3 glomerulopathy: what's in a name? 61
22846813 2012

Variations for Nephrotic Syndrome, Type 7

ClinVar genetic disease variations for Nephrotic Syndrome, Type 7:

6 (show all 20)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DGKE NM_003647.3(DGKE):c.127C>T (p.Gln43Ter) SNV Pathogenic 39578 rs398123008 GRCh37: 17:54912283-54912283
GRCh38: 17:56834922-56834922
2 DGKE NM_003647.3(DGKE):c.610del (p.Thr204fs) Deletion Pathogenic 39579 rs147972030 GRCh37: 17:54921519-54921519
GRCh38: 17:56844158-56844158
3 DGKE NM_003647.3(DGKE):c.889-2A>G SNV Pathogenic 39580 rs879255231 GRCh37: 17:54926055-54926055
GRCh38: 17:56848694-56848694
4 DGKE NM_003647.3(DGKE):c.1376G>A (p.Trp459Ter) SNV Pathogenic 397599 rs1060499708 GRCh37: 17:54939243-54939243
GRCh38: 17:56861882-56861882
5 DGKE NM_003647.3(DGKE):c.1009C>T (p.Arg337Ter) SNV Pathogenic 522493 rs762576212 GRCh37: 17:54926177-54926177
GRCh38: 17:56848816-56848816
6 DGKE NM_003647.3(DGKE):c.610dup (p.Thr204fs) Duplication Pathogenic 635454 rs147972030 GRCh37: 17:54921518-54921519
GRCh38: 17:56844157-56844158
7 DGKE NM_003647.3(DGKE):c.889-1G>A SNV Pathogenic 135640 rs312262696 GRCh37: 17:54926056-54926056
GRCh38: 17:56848695-56848695
8 DGKE NM_003647.3(DGKE):c.1099-2A>T SNV Pathogenic 829884 rs1598043201 GRCh37: 17:54933871-54933871
GRCh38: 17:56856510-56856510
9 DGKE NM_003647.3(DGKE):c.966G>A (p.Trp322Ter) SNV Pathogenic 135641 rs138924661 GRCh37: 17:54926134-54926134
GRCh38: 17:56848773-56848773
10 DGKE NM_003647.3(DGKE):c.1442dup (p.Val482fs) Duplication Likely pathogenic 635453 rs1567825026 GRCh37: 17:54939528-54939529
GRCh38: 17:56862167-56862168
11 DGKE NM_003647.3(DGKE):c.178C>G (p.His60Asp) SNV Likely pathogenic 522494 rs1482608926 GRCh37: 17:54912334-54912334
GRCh38: 17:56834973-56834973
12 DGKE NM_003647.3(DGKE):c.1169G>A (p.Arg390His) SNV Likely pathogenic 397600 rs1060499709 GRCh37: 17:54933943-54933943
GRCh38: 17:56856582-56856582
13 DGKE NM_003647.3(DGKE):c.728_731del (p.Ile242_Leu243insTer) Deletion Likely pathogenic 424621 rs1064797074 GRCh37: 17:54923153-54923156
GRCh38: 17:56845792-56845795
14 DGKE NM_003647.3(DGKE):c.966G>A (p.Trp322Ter) SNV risk factor 135641 rs138924661 GRCh37: 17:54926134-54926134
GRCh38: 17:56848773-56848773
15 DGKE NM_003647.2(DGKE):c.188G>C (p.Arg63Pro) SNV risk factor 50788 rs312262694 GRCh37: 17:54912344-54912344
GRCh38: 17:56834983-56834983
16 DGKE NM_003647.3(DGKE):c.32C>A (p.Ser11Ter) SNV risk factor 50789 rs148605410 GRCh37: 17:54912188-54912188
GRCh38: 17:56834827-56834827
17 DGKE NM_003647.3(DGKE):c.818G>C (p.Arg273Pro) SNV risk factor 50790 rs312262695 GRCh37: 17:54925356-54925356
GRCh38: 17:56847995-56847995
18 DGKE NM_003647.3(DGKE):c.486dup (p.Val163fs) Duplication risk factor 135639 rs312262699 GRCh37: 17:54921400-54921401
GRCh38: 17:56844039-56844040
19 DGKE NM_003647.3(DGKE):c.303G>C (p.Lys101Asn) SNV Uncertain significance 1032142 GRCh37: 17:54912459-54912459
GRCh38: 17:56835098-56835098
20 DGKE NM_003647.3(DGKE):c.995T>C (p.Val332Ala) SNV Uncertain significance 1032143 GRCh37: 17:54926163-54926163
GRCh38: 17:56848802-56848802

UniProtKB/Swiss-Prot genetic disease variations for Nephrotic Syndrome, Type 7:

72
# Symbol AA change Variation ID SNP ID
1 DGKE p.Arg63Pro VAR_069804 rs312262694
2 DGKE p.Arg273Pro VAR_069805 rs312262695

Expression for Nephrotic Syndrome, Type 7

Search GEO for disease gene expression data for Nephrotic Syndrome, Type 7.

Pathways for Nephrotic Syndrome, Type 7

Pathways related to Nephrotic Syndrome, Type 7 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.58 PLD4 PLD3 PLA2R1 MTMR3 MBOAT2 DGKK
2
Show member pathways
12.13 MTMR3 DGKK DGKE CDIPT
3
Show member pathways
11.96 PLD4 PLD3 PLA2R1 MTMR3 MBOAT2 DGKK
4
Show member pathways
11.46 PLD4 PLD3 PLA2R1 MBOAT2
5
Show member pathways
11.19 PLD4 PLD3
6 11.12 MBOAT2 DGKK DGKE
7
Show member pathways
11.1 PLD4 PLD3
8
Show member pathways
10.87 DGKK DGKE

GO Terms for Nephrotic Syndrome, Type 7

Biological processes related to Nephrotic Syndrome, Type 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phospholipid biosynthetic process GO:0008654 9.43 MBOAT2 CDIPT
2 DNA metabolic process GO:0006259 9.4 PLD4 PLD3
3 protein kinase C-activating G protein-coupled receptor signaling pathway GO:0007205 9.37 DGKK DGKE
4 lipid phosphorylation GO:0046834 9.32 DGKK DGKE
5 glycerolipid metabolic process GO:0046486 9.26 DGKK DGKE
6 diacylglycerol metabolic process GO:0046339 9.16 DGKK DGKE
7 regulation of cytokine production involved in inflammatory response GO:1900015 8.96 PLD4 PLD3
8 phosphatidylinositol biosynthetic process GO:0006661 8.8 MTMR3 DGKE CDIPT

Molecular functions related to Nephrotic Syndrome, Type 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 exonuclease activity GO:0004527 9.32 PLD4 PLD3
2 NAD+ kinase activity GO:0003951 9.26 DGKK DGKE
3 diacylglycerol kinase activity GO:0004143 9.16 DGKK DGKE
4 phospholipase D activity GO:0004630 8.96 PLD4 PLD3
5 single-stranded DNA 5'-3' exodeoxyribonuclease activity GO:0045145 8.62 PLD4 PLD3

Sources for Nephrotic Syndrome, Type 7

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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