NPHS9
MCID: NPH074
MIFTS: 24

Nephrotic Syndrome, Type 9 (NPHS9)

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

Aliases & Classifications for Nephrotic Syndrome, Type 9

MalaCards integrated aliases for Nephrotic Syndrome, Type 9:

Name: Nephrotic Syndrome, Type 9 57 29 6 39 70
Nphs9 57 72
Nephrotic Syndrome Type 9 12
Nephrotic Syndrome 9 72

Characteristics:

OMIM®:

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

Miscellaneous:
progressive disorder
onset in the first or second decades
one patient has had favorable response to high dose coenzyme q10 supplementation in combination with other medications


HPO:

31
nephrotic syndrome, type 9:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:



External Ids:

Disease Ontology 12 DOID:0080391
OMIM® 57 615573
OMIM Phenotypic Series 57 PS256300
MeSH 44 D009404
UMLS 70 C3809965

Summaries for Nephrotic Syndrome, Type 9

OMIM® : 57 Nephrotic syndrome type 9 (NPHS9) is an autosomal recessive chronic kidney disorder characterized by significant proteinuria resulting in hypoalbuminemia and edema. Onset is in the first or second decade of life. The disorder is steroid treatment-resistant and usually progresses to end-stage renal disease requiring transplantation. Renal biopsy shows focal segmental glomerulosclerosis (FSGS) or collapsing FSGS (summary by Ashraf et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 (256300). (615573) (Updated 20-May-2021)

MalaCards based summary : Nephrotic Syndrome, Type 9, is also known as nphs9, and has symptoms including edema An important gene associated with Nephrotic Syndrome, Type 9 is COQ8B (Coenzyme Q8B). Affiliated tissues include kidney, and related phenotypes are proteinuria and nephrotic syndrome

Disease Ontology : 12 A familial nephrotic syndrome characterized by steroid-resistant proteinuria, hypoalbuminemia and edema with onset in the first or second decade of life that has material basis in homozygous or compound heterozygous mutation in the COQ8B gene on chromosome 19q13.

UniProtKB/Swiss-Prot : 72 Nephrotic syndrome 9: A form of nephrotic syndrome, a renal disease clinically characterized by progressive renal failure, severe proteinuria, hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show focal segmental glomerulosclerosis.

Symptoms & Phenotypes for Nephrotic Syndrome, Type 9

Human phenotypes related to Nephrotic Syndrome, Type 9:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 proteinuria 31 HP:0000093
2 nephrotic syndrome 31 HP:0000100
3 hypoalbuminemia 31 HP:0003073
4 edema 31 HP:0000969
5 stage 5 chronic kidney disease 31 HP:0003774
6 focal segmental glomerulosclerosis 31 HP:0000097

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Genitourinary Kidneys:
proteinuria
chronic renal failure
focal segmental glomerulosclerosis (fsgs)
nephrotic syndrome, steroid-resistant
end-stage kidney disease
more
Muscle Soft Tissue:
edema

Laboratory Abnormalities:
proteinuria
hypoalbuminemia
decreased coq10 levels in lymphoblasts or fibroblasts
defective mitochondrial respiratory enzyme activity

Clinical features from OMIM®:

615573 (Updated 20-May-2021)

UMLS symptoms related to Nephrotic Syndrome, Type 9:


edema

Drugs & Therapeutics for Nephrotic Syndrome, Type 9

Search Clinical Trials , NIH Clinical Center for Nephrotic Syndrome, Type 9

Genetic Tests for Nephrotic Syndrome, Type 9

Genetic tests related to Nephrotic Syndrome, Type 9:

# Genetic test Affiliating Genes
1 Nephrotic Syndrome, Type 9 29 COQ8B

Anatomical Context for Nephrotic Syndrome, Type 9

MalaCards organs/tissues related to Nephrotic Syndrome, Type 9:

40
Kidney

Publications for Nephrotic Syndrome, Type 9

Articles related to Nephrotic Syndrome, Type 9:

# Title Authors PMID Year
1
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. 57 6
24270420 2013
2
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players. 6
33532864 2021
3
Urinary proteome signature of Renal Cysts and Diabetes syndrome in children. 61
30778115 2019

Variations for Nephrotic Syndrome, Type 9

ClinVar genetic disease variations for Nephrotic Syndrome, Type 9:

6 (show all 22)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COQ8B NM_024876.4(COQ8B):c.1199dup (p.His400fs) Duplication Pathogenic 91850 rs398122982 GRCh37: 19:41201903-41201904
GRCh38: 19:40695998-40695999
2 COQ8B NM_024876.4(COQ8B):c.1356_1362del (p.Gln452fs) Deletion Pathogenic 91851 rs398122983 GRCh37: 19:41198213-41198219
GRCh38: 19:40692308-40692314
3 COQ8B NM_001142555.3(COQ8B):c.831_833dup (p.Thr278dup) Duplication Pathogenic 375335 rs1057519346 GRCh37: 19:41206293-41206294
GRCh38: 19:40700388-40700389
4 COQ8B NM_024876.4(COQ8B):c.645del (p.Phe215fs) Deletion Pathogenic 375336 rs764587648 GRCh37: 19:41209692-41209692
GRCh38: 19:40703787-40703787
5 COQ8B NM_024876.4(COQ8B):c.748G>A (p.Asp250Asn) SNV Pathogenic 988900 GRCh37: 19:41209497-41209497
GRCh38: 19:40703592-40703592
6 COQ8B NM_024876.4(COQ8B):c.1035+2T>C SNV Pathogenic 974475 GRCh37: 19:41206213-41206213
GRCh38: 19:40700308-40700308
7 COQ8B NM_024876.4(COQ8B):c.893+1G>T SNV Pathogenic 1032201 GRCh37: 19:41208504-41208504
GRCh38: 19:40702599-40702599
8 COQ8B NM_024876.4(COQ8B):c.532C>T (p.Arg178Trp) SNV Pathogenic 91845 rs398122978 GRCh37: 19:41211045-41211045
GRCh38: 19:40705140-40705140
9 COQ8B NM_024876.4(COQ8B):c.857A>G (p.Asp286Gly) SNV Pathogenic 91846 rs398122979 GRCh37: 19:41208541-41208541
GRCh38: 19:40702636-40702636
10 COQ8B NM_024876.4(COQ8B):c.1447G>T (p.Glu483Ter) SNV Pathogenic 91847 rs398122980 GRCh37: 19:41198128-41198128
GRCh38: 19:40692223-40692223
11 COQ8B NM_024876.4(COQ8B):c.958C>T (p.Arg320Trp) SNV Pathogenic 91848 rs369573693 GRCh37: 19:41206292-41206292
GRCh38: 19:40700387-40700387
12 COQ8B NM_024876.4(COQ8B):c.1027C>T (p.Arg343Trp) SNV Pathogenic 91849 rs398122981 GRCh37: 19:41206223-41206223
GRCh38: 19:40700318-40700318
13 COQ8B NM_024876.4(COQ8B):c.1430G>A (p.Arg477Gln) SNV Pathogenic 375337 rs1057519347 GRCh37: 19:41198145-41198145
GRCh38: 19:40692240-40692240
14 COQ8B NM_024876.4(COQ8B):c.101G>A (p.Trp34Ter) SNV Pathogenic 375334 rs1057519345 GRCh37: 19:41220437-41220437
GRCh38: 19:40714532-40714532
15 COQ8B NM_024876.4(COQ8B):c.1560G>A (p.Trp520Ter) SNV Pathogenic 521659 rs369205319 GRCh37: 19:41198015-41198015
GRCh38: 19:40692110-40692110
16 COQ8B NM_024876.4(COQ8B):c.1110G>A (p.Trp370Ter) SNV Pathogenic 1028347 GRCh37: 19:41206005-41206005
GRCh38: 19:40700100-40700100
17 COQ8B NM_024876.4(COQ8B):c.439T>C (p.Cys147Arg) SNV Likely pathogenic 974476 GRCh37: 19:41211281-41211281
GRCh38: 19:40705376-40705376
18 COQ8B NM_024876.4(COQ8B):c.737G>A (p.Ser246Asn) SNV Likely pathogenic 974477 GRCh37: 19:41209508-41209508
GRCh38: 19:40703603-40703603
19 COQ8B NM_024876.4(COQ8B):c.748G>C (p.Asp250His) SNV Likely pathogenic 974478 GRCh37: 19:41209497-41209497
GRCh38: 19:40703592-40703592
20 COQ8B NM_024876.4(COQ8B):c.1186G>A (p.Glu396Lys) SNV Uncertain significance 1028348 GRCh37: 19:41201917-41201917
GRCh38: 19:40696012-40696012
21 COQ8B NM_024876.4(COQ8B):c.1552C>T (p.Arg518Cys) SNV Uncertain significance 1028349 GRCh37: 19:41198023-41198023
GRCh38: 19:40692118-40692118
22 COQ8B NM_024876.4(COQ8B):c.1391G>A (p.Arg464His) SNV Uncertain significance 1031412 GRCh37: 19:41198184-41198184
GRCh38: 19:40692279-40692279

UniProtKB/Swiss-Prot genetic disease variations for Nephrotic Syndrome, Type 9:

72
# Symbol AA change Variation ID SNP ID
1 COQ8B p.Arg178Trp VAR_070552 rs398122978
2 COQ8B p.Asp286Gly VAR_070553 rs398122979
3 COQ8B p.Arg320Trp VAR_070554 rs369573693
4 COQ8B p.Arg343Trp VAR_070555 rs398122981
5 COQ8B p.Arg477Gln VAR_070556 rs105751934
6 COQ8B p.Leu98Arg VAR_076861
7 COQ8B p.Pro310Leu VAR_076862
8 COQ8B p.Ala498Glu VAR_076863

Expression for Nephrotic Syndrome, Type 9

Search GEO for disease gene expression data for Nephrotic Syndrome, Type 9.

Pathways for Nephrotic Syndrome, Type 9

GO Terms for Nephrotic Syndrome, Type 9

Sources for Nephrotic Syndrome, Type 9

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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