NPHS9
MCID: NPH074
MIFTS: 21

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 40 73
Nphs9 57 75
Nephrotic Syndrome 9 75

Characteristics:

OMIM:

57
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:

32
nephrotic syndrome, type 9:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:



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)

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

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Nephrotic Syndrome, Type 9:

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

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:

41
Kidney

Publications for Nephrotic Syndrome, Type 9

Variations for Nephrotic Syndrome, Type 9

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

75
# 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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17 ExPASy
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74 UMLS via Orphanet
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