AHUS7
MCID: NPH072
MIFTS: 30

Nephrotic Syndrome, Type 7 (AHUS7)

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 58 30 13 6 41 74
Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 7 58 30 6
Immunoglobulin-Mediated Membranoproliferative Glomerulonephritis 12 60
Ig-Mediated Membranoproliferative Glomerulonephritis 12 60
Immunoglobulin-Mediated Mpgn 12 60
Ig-Mediated Mpgn 12 60
Nphs7 58 76
Nephrotic Syndrome, Type 7, with Membranoproliferative Glomerulonephritis 58
Nephrotic Syndrome Type 7 with Membranoptoliferative Glomerulonephritis 12
Nephrotic Syndrome Type 7 with Membranoproliferative Glomerulonephritis 76
Hemolytic-Uremic Syndrome Without Diarrhea with Dgke Deficiency 60
Atypical Hemolytic-Uremic Syndrome with Dgke Deficiency 60
Hemolytic Uremic Syndrome, Atypical 7 58
Hemolytic Uremic Syndrome Atypical 7 76
Atypical Hus with Dgke Deficiency 60
D-Hus with Dgke Deficiency 60
Nephrotic Syndrome Type 7 12
Ahus with Dgke Deficiency 60
Nephrotic Syndrome 7 76
Ahus7 76

Characteristics:

Orphanet epidemiological data:

60
atypical hemolytic-uremic syndrome with dgke deficiency
Inheritance: Autosomal recessive,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
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:

33
nephrotic syndrome, type 7:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080388
OMIM 58 615008
ICD10 via Orphanet 35 D58.8 N00.5
UMLS via Orphanet 75 C0268742 C1720821
UMLS 74 C3554330

Summaries for Nephrotic Syndrome, Type 7

OMIM : 58 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)

MalaCards based summary : Nephrotic Syndrome, Type 7, also known as hemolytic uremic syndrome, atypical, susceptibility to, 7, is related to non-immunoglobulin-mediated membranoproliferative glomerulonephritis and dense deposit disease. An important gene associated with Nephrotic Syndrome, Type 7 is DGKE (Diacylglycerol Kinase Epsilon). Affiliated tissues include kidney and endothelial, and related phenotypes are hemolytic anemia and thrombocytopenia

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 : 76 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

Symptoms & Phenotypes for Nephrotic Syndrome, Type 7

Human phenotypes related to Nephrotic Syndrome, Type 7:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 hemolytic anemia 33 occasional (7.5%) HP:0001878
2 thrombocytopenia 33 occasional (7.5%) HP:0001873
3 stage 5 chronic kidney disease 33 occasional (7.5%) HP:0003774
4 hemolytic-uremic syndrome 33 occasional (7.5%) HP:0005575
5 proteinuria 33 HP:0000093
6 nephrotic syndrome 33 HP:0000100
7 acute kidney injury 33 HP:0001919
8 glomerulonephritis 33 HP:0000099
9 thickening of the glomerular basement membrane 33 HP:0004722

Symptoms via clinical synopsis from OMIM:

58
Genitourinary Kidneys:
proteinuria
nephrotic syndrome
acute renal failure
mesangial cell proliferation
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

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 30 DGKE
2 Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 7 30

Anatomical Context for Nephrotic Syndrome, Type 7

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

42
Kidney, Endothelial

Publications for Nephrotic Syndrome, Type 7

Articles related to Nephrotic Syndrome, Type 7:

# Title Authors Year
1
Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome. ( 23542698 )
2013
2
DGKE variants cause a glomerular microangiopathy that mimics membranoproliferative GN. ( 23274426 )
2013

Variations for Nephrotic Syndrome, Type 7

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

76
# Symbol AA change Variation ID SNP ID
1 DGKE p.Arg63Pro VAR_069804 rs312262694
2 DGKE p.Arg273Pro VAR_069805 rs312262695

ClinVar genetic disease variations for Nephrotic Syndrome, Type 7:

6 (show all 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 DGKE NM_003647.2(DGKE): c.127C> T (p.Gln43Ter) single nucleotide variant Pathogenic rs398123008 GRCh37 Chromosome 17, 54912283: 54912283
2 DGKE NM_003647.2(DGKE): c.127C> T (p.Gln43Ter) single nucleotide variant Pathogenic rs398123008 GRCh38 Chromosome 17, 56834922: 56834922
3 DGKE NM_003647.2(DGKE): c.610delA (p.Thr204Glnfs) deletion Pathogenic rs147972030 GRCh37 Chromosome 17, 54921525: 54921525
4 DGKE NM_003647.2(DGKE): c.610delA (p.Thr204Glnfs) deletion Pathogenic rs147972030 GRCh38 Chromosome 17, 56844164: 56844164
5 DGKE NM_003647.2(DGKE): c.889-2A> G single nucleotide variant Pathogenic rs879255231 GRCh38 Chromosome 17, 56848694: 56848694
6 DGKE NM_003647.2(DGKE): c.889-2A> G single nucleotide variant Pathogenic rs879255231 GRCh37 Chromosome 17, 54926055: 54926055
7 DGKE NM_003647.2(DGKE): c.188G> C (p.Arg63Pro) single nucleotide variant risk factor rs312262694 GRCh37 Chromosome 17, 54912344: 54912344
8 DGKE NM_003647.2(DGKE): c.188G> C (p.Arg63Pro) single nucleotide variant risk factor rs312262694 GRCh38 Chromosome 17, 56834983: 56834983
9 DGKE NM_003647.2(DGKE): c.32C> A (p.Ser11Ter) single nucleotide variant Likely pathogenic,risk factor rs148605410 GRCh37 Chromosome 17, 54912188: 54912188
10 DGKE NM_003647.2(DGKE): c.32C> A (p.Ser11Ter) single nucleotide variant Likely pathogenic,risk factor rs148605410 GRCh38 Chromosome 17, 56834827: 56834827
11 DGKE NM_003647.2(DGKE): c.818G> C (p.Arg273Pro) single nucleotide variant Likely pathogenic,risk factor rs312262695 GRCh37 Chromosome 17, 54925356: 54925356
12 DGKE NM_003647.2(DGKE): c.818G> C (p.Arg273Pro) single nucleotide variant Likely pathogenic,risk factor rs312262695 GRCh38 Chromosome 17, 56847995: 56847995
13 DGKE NM_003647.2(DGKE): c.486dupA (p.Val163Serfs) duplication Likely pathogenic,risk factor rs312262699 GRCh37 Chromosome 17, 54921401: 54921401
14 DGKE NM_003647.2(DGKE): c.486dupA (p.Val163Serfs) duplication Likely pathogenic,risk factor rs312262699 GRCh38 Chromosome 17, 56844040: 56844040
15 DGKE NM_003647.3(DGKE): c.966G> A (p.Trp322Ter) single nucleotide variant Pathogenic rs138924661 GRCh37 Chromosome 17, 54926134: 54926134
16 DGKE NM_003647.3(DGKE): c.966G> A (p.Trp322Ter) single nucleotide variant Pathogenic rs138924661 GRCh38 Chromosome 17, 56848773: 56848773
17 DGKE NM_003647.2(DGKE): c.1169G> A (p.Arg390His) single nucleotide variant Likely pathogenic rs1060499709 GRCh37 Chromosome 17, 54933943: 54933943
18 DGKE NM_003647.2(DGKE): c.1169G> A (p.Arg390His) single nucleotide variant Likely pathogenic rs1060499709 GRCh38 Chromosome 17, 56856582: 56856582
19 DGKE NM_003647.2(DGKE): c.1376G> A (p.Trp459Ter) single nucleotide variant Pathogenic rs1060499708 GRCh37 Chromosome 17, 54939243: 54939243
20 DGKE NM_003647.2(DGKE): c.1376G> A (p.Trp459Ter) single nucleotide variant Pathogenic rs1060499708 GRCh38 Chromosome 17, 56861882: 56861882
21 DGKE NM_003647.2(DGKE): c.728_731delTGTT (p.Leu243Terfs) deletion Likely pathogenic rs1064797074 GRCh37 Chromosome 17, 54923154: 54923157
22 DGKE NM_003647.2(DGKE): c.728_731delTGTT (p.Leu243Terfs) deletion Likely pathogenic rs1064797074 GRCh38 Chromosome 17, 56845793: 56845796
23 DGKE NM_003647.2(DGKE): c.178C> G (p.His60Asp) single nucleotide variant Likely pathogenic rs1482608926 GRCh37 Chromosome 17, 54912334: 54912334
24 DGKE NM_003647.2(DGKE): c.178C> G (p.His60Asp) single nucleotide variant Likely pathogenic rs1482608926 GRCh38 Chromosome 17, 56834973: 56834973
25 DGKE NM_003647.2(DGKE): c.1009C> T (p.Arg337Ter) single nucleotide variant Pathogenic rs762576212 GRCh37 Chromosome 17, 54926177: 54926177
26 DGKE NM_003647.2(DGKE): c.1009C> T (p.Arg337Ter) single nucleotide variant Pathogenic rs762576212 GRCh38 Chromosome 17, 56848816: 56848816

Expression for Nephrotic Syndrome, Type 7

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

Pathways for Nephrotic Syndrome, Type 7

GO Terms for Nephrotic Syndrome, Type 7

Sources for Nephrotic Syndrome, Type 7

3 CDC
7 CNVD
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10 dbSNP
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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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