NPHS9
MCID: NPH074
MIFTS: 22

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 58 30 6 41 74
Nphs9 58 76
Nephrotic Syndrome Type 9 12
Nephrotic Syndrome 9 76

Characteristics:

OMIM:

58
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:

33
nephrotic syndrome, type 9:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Nephrotic Syndrome, Type 9

OMIM : 58 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)

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 edema

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 : 76 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.

Related Diseases for Nephrotic Syndrome, Type 9

Symptoms & Phenotypes for Nephrotic Syndrome, Type 9

Human phenotypes related to Nephrotic Syndrome, Type 9:

33 (show all 6)
# 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

Symptoms via clinical synopsis from OMIM:

58
Genitourinary Kidneys:
proteinuria
chronic renal failure
nephrotic syndrome, steroid-resistant
end-stage kidney disease
focal segmental glomerulosclerosis (fsgs)
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

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 30 COQ8B

Anatomical Context for Nephrotic Syndrome, Type 9

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

42
Kidney

Publications for Nephrotic Syndrome, Type 9

Articles related to Nephrotic Syndrome, Type 9:

# Title Authors Year
1
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. ( 24270420 )
2013

Variations for Nephrotic Syndrome, Type 9

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

76
# 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

ClinVar genetic disease variations for Nephrotic Syndrome, Type 9:

6 (show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 COQ8B NM_024876.3(COQ8B): c.532C> T (p.Arg178Trp) single nucleotide variant Pathogenic rs398122978 GRCh37 Chromosome 19, 41211045: 41211045
2 COQ8B NM_024876.3(COQ8B): c.532C> T (p.Arg178Trp) single nucleotide variant Pathogenic rs398122978 GRCh38 Chromosome 19, 40705140: 40705140
3 COQ8B NM_024876.3(COQ8B): c.857A> G (p.Asp286Gly) single nucleotide variant Pathogenic rs398122979 GRCh37 Chromosome 19, 41208541: 41208541
4 COQ8B NM_024876.3(COQ8B): c.857A> G (p.Asp286Gly) single nucleotide variant Pathogenic rs398122979 GRCh38 Chromosome 19, 40702636: 40702636
5 COQ8B NM_024876.3(COQ8B): c.1447G> T (p.Glu483Ter) single nucleotide variant Pathogenic rs398122980 GRCh37 Chromosome 19, 41198128: 41198128
6 COQ8B NM_024876.3(COQ8B): c.1447G> T (p.Glu483Ter) single nucleotide variant Pathogenic rs398122980 GRCh38 Chromosome 19, 40692223: 40692223
7 COQ8B NM_024876.3(COQ8B): c.958C> T (p.Arg320Trp) single nucleotide variant Pathogenic rs369573693 GRCh37 Chromosome 19, 41206292: 41206292
8 COQ8B NM_024876.3(COQ8B): c.958C> T (p.Arg320Trp) single nucleotide variant Pathogenic rs369573693 GRCh38 Chromosome 19, 40700387: 40700387
9 COQ8B NM_024876.3(COQ8B): c.1027C> T (p.Arg343Trp) single nucleotide variant Pathogenic rs398122981 GRCh37 Chromosome 19, 41206223: 41206223
10 COQ8B NM_024876.3(COQ8B): c.1027C> T (p.Arg343Trp) single nucleotide variant Pathogenic rs398122981 GRCh38 Chromosome 19, 40700318: 40700318
11 COQ8B NM_024876.3(COQ8B): c.1199dupA (p.His400Glnfs) duplication Pathogenic rs398122982 GRCh37 Chromosome 19, 41201904: 41201904
12 COQ8B NM_024876.3(COQ8B): c.1199dupA (p.His400Glnfs) duplication Pathogenic rs398122982 GRCh38 Chromosome 19, 40695999: 40695999
13 COQ8B NM_024876.3(COQ8B): c.1356_1362delGGGCCCT (p.Gln452Hisfs) deletion Pathogenic rs398122983 GRCh37 Chromosome 19, 41198213: 41198219
14 COQ8B NM_024876.3(COQ8B): c.1356_1362delGGGCCCT (p.Gln452Hisfs) deletion Pathogenic rs398122983 GRCh38 Chromosome 19, 40692308: 40692314
15 COQ8B NM_024876.3(COQ8B): c.1430G> A (p.Arg477Gln) single nucleotide variant Pathogenic rs1057519347 GRCh38 Chromosome 19, 40692240: 40692240
16 COQ8B NM_024876.3(COQ8B): c.1430G> A (p.Arg477Gln) single nucleotide variant Pathogenic rs1057519347 GRCh37 Chromosome 19, 41198145: 41198145
17 COQ8B NM_024876.3(COQ8B): c.954_956dupGAC (p.Thr319_Arg320insThr) duplication Pathogenic rs1057519346 GRCh37 Chromosome 19, 41206294: 41206296
18 COQ8B NM_024876.3(COQ8B): c.954_956dupGAC (p.Thr319_Arg320insThr) duplication Pathogenic rs1057519346 GRCh38 Chromosome 19, 40700389: 40700391
19 COQ8B NM_024876.3(COQ8B): c.645delT (p.Phe214LeufsTer14) deletion Pathogenic rs764587648 GRCh38 Chromosome 19, 40703787: 40703787
20 COQ8B NM_024876.3(COQ8B): c.645delT (p.Phe214LeufsTer14) deletion Pathogenic rs764587648 GRCh37 Chromosome 19, 41209692: 41209692
21 COQ8B NM_024876.3(COQ8B): c.101G> A (p.Trp34Ter) single nucleotide variant Pathogenic rs1057519345 GRCh38 Chromosome 19, 40714532: 40714532
22 COQ8B NM_024876.3(COQ8B): c.101G> A (p.Trp34Ter) single nucleotide variant Pathogenic rs1057519345 GRCh37 Chromosome 19, 41220437: 41220437

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

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