NPHS8
MCID: NPH073
MIFTS: 26

Nephrotic Syndrome, Type 8 (NPHS8)

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

Aliases & Classifications for Nephrotic Syndrome, Type 8

MalaCards integrated aliases for Nephrotic Syndrome, Type 8:

Name: Nephrotic Syndrome, Type 8 57 29 13 6 39 70
Nphs8 57 72
Nephrotic Syndrome Type 8 12
Nephrotic Syndrome 8 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
rapidly progressive
onset in first weeks of life
fatal if renal transplant is not performed

Inheritance:
autosomal recessive


HPO:

31
nephrotic syndrome, type 8:
Inheritance autosomal recessive inheritance
Onset and clinical course rapidly progressive neonatal onset


Classifications:



Summaries for Nephrotic Syndrome, Type 8

UniProtKB/Swiss-Prot : 72 Nephrotic syndrome 8: A form of nephrotic syndrome, a renal disease clinically characterized by progressive renal failure, severe proteinuria, hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show diffuse mesangial sclerosis, with small glomeruli, hypercellularity, increased extracellular matrix, and contracted/collapsed glomerular tufts surrounded by immature or abnormal podocytes.

MalaCards based summary : Nephrotic Syndrome, Type 8, is also known as nphs8, and has symptoms including edema An important gene associated with Nephrotic Syndrome, Type 8 is ARHGDIA (Rho GDP Dissociation Inhibitor Alpha). Affiliated tissues include endothelial and kidney, and related phenotypes are intellectual disability and sensorineural hearing impairment

Disease Ontology : 12 A familial nephrotic syndrome characterized by neonatal or early childhood onset steroid resistant renal disease that has material basis in homozygous or compound heterozygous mutation in the ARHGDIA gene on chromosome 17q25.

More information from OMIM: 615244 PS256300

Symptoms & Phenotypes for Nephrotic Syndrome, Type 8

Human phenotypes related to Nephrotic Syndrome, Type 8:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 sensorineural hearing impairment 31 HP:0000407
3 proteinuria 31 HP:0000093
4 nephrotic syndrome 31 HP:0000100
5 hypoalbuminemia 31 HP:0003073
6 edema 31 HP:0000969
7 chronic kidney disease 31 HP:0012622
8 cerebral visual impairment 31 HP:0100704
9 thin glomerular basement membrane 31 HP:0012577
10 seizure 31 HP:0001250
11 diffuse mesangial sclerosis 31 HP:0001967

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Laboratory Abnormalities:
proteinuria
hypoalbuminemia

Muscle Soft Tissue:
edema

Head And Neck Eyes:
cortical blindness (in 1 moroccan patient)

Genitourinary Kidneys:
nephrotic syndrome
diffuse mesangial sclerosis
renal failure, progressive
abnormal glomeruli seen on biopsy
hypercellularity
more
Head And Neck Ears:
hearing loss, sensorineural (in 1 ashkenazi patient)

Neurologic Central Nervous System:
cortical blindness (in 1 moroccan patient)
intellectual disability (in 1 ashkenazi patient)
seizures (in 1 moroccan patient)

Clinical features from OMIM®:

615244 (Updated 20-May-2021)

UMLS symptoms related to Nephrotic Syndrome, Type 8:


edema

Drugs & Therapeutics for Nephrotic Syndrome, Type 8

Search Clinical Trials , NIH Clinical Center for Nephrotic Syndrome, Type 8

Genetic Tests for Nephrotic Syndrome, Type 8

Genetic tests related to Nephrotic Syndrome, Type 8:

# Genetic test Affiliating Genes
1 Nephrotic Syndrome, Type 8 29 ARHGDIA

Anatomical Context for Nephrotic Syndrome, Type 8

MalaCards organs/tissues related to Nephrotic Syndrome, Type 8:

40
Endothelial, Kidney

Publications for Nephrotic Syndrome, Type 8

Articles related to Nephrotic Syndrome, Type 8:

(show all 18)
# Title Authors PMID Year
1
ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling. 6 57
23867502 2013
2
ARHGDIA: a novel gene implicated in nephrotic syndrome. 6 57
23434736 2013
3
Modification of mineralocorticoid receptor function by Rac1 GTPase: implication in proteinuric kidney disease. 57
19029984 2008
4
Clinical Characteristics and Outcomes of Pediatric Cerebral Venous Sinus Thrombosis: An Analysis of 30 Cases in China. 61
31552208 2019
5
A familial case of Galloway-Mowat syndrome due to a novel TP53RK mutation: a case report. 61
30053862 2018
6
The Roche Total Mycophenolic Acid® assay: An application protocol for the ABX Pentra 400 analyzer and comparison with LC-MS in children with idiopathic nephrotic syndrome. 61
28856214 2017
7
Serum-ascites albumin gradient in differential diagnosis of ascites. 61
24292307 2013
8
Primary membranoproliferative glomerulonephritis on the decline: decreased rate from the 1970s to the 2000s in Japan. 61
22971963 2013
9
Paediatric acute kidney injury in a tertiary hospital in Nigeria: prevalence, causes and mortality rate. 61
23251463 2012
10
Effect of intrauterine growth retardation on the progression of nephrotic syndrome. 61
12381944 2002
11
[Effects of cyclosporin A on the diurnal variation of blood pressure in patients with nephrotic syndrome]. 61
9198362 1997
12
Clinicopathological analysis and therapy in hepatitis C virus-associated nephropathy. 61
8842757 1996
13
[Lipid metabolism in the nephrotic syndrome]. 61
8711410 1996
14
[Lupus nephritis in children and adolescents (clinical-morphologic correlation)]. 61
17972798 1994
15
Urinary kallikrein excretion in chronic renal disease with respect to salt intake and renal reserve. 61
1680995 1991
16
Renal lesions in sickle cell nephropathy in children. 61
3982580 1985
17
Long term study of mesangial proliferative glomerulonephritis with IgM deposits. 61
7329978 1981
18
[Study of hemostasis factors in nephrotic syndrome. Pathogenic interpretation and therapeutic deductions]. 61
883729 1977

Variations for Nephrotic Syndrome, Type 8

ClinVar genetic disease variations for Nephrotic Syndrome, Type 8:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ARHGDIA NM_004309.6(ARHGDIA):c.547_549GAC[2] (p.Asp185del) Microsatellite Pathogenic 50501 rs587776969 GRCh37: 17:79826812-79826814
GRCh38: 17:81868936-81868938
2 ARHGDIA NM_004309.6(ARHGDIA):c.518G>T (p.Gly173Val) SNV Pathogenic 140593 rs587777552 GRCh37: 17:79826849-79826849
GRCh38: 17:81868973-81868973
3 ARHGDIA NM_004309.6(ARHGDIA):c.358C>T (p.Arg120Ter) SNV Pathogenic 140594 rs587777553 GRCh37: 17:79827106-79827106
GRCh38: 17:81869230-81869230
4 ARHGDIA NM_004309.6(ARHGDIA):c.*28_*31del Deletion Pathogenic 1033777 GRCh37: 17:79826721-79826724
GRCh38: 17:81868845-81868848
5 ARHGDIA NM_004309.6(ARHGDIA):c.*65dup Duplication Pathogenic 522880 rs757131763 GRCh37: 17:79826686-79826687
GRCh38: 17:81868810-81868811
6 ARHGDIA NM_004309.6(ARHGDIA):c.*41A>G SNV Uncertain significance 1030364 GRCh37: 17:79826711-79826711
GRCh38: 17:81868835-81868835
7 ARHGDIA NM_004309.6(ARHGDIA):c.275-20G>T SNV Uncertain significance 1030365 GRCh37: 17:79827302-79827302
GRCh38: 17:81869426-81869426

Expression for Nephrotic Syndrome, Type 8

Search GEO for disease gene expression data for Nephrotic Syndrome, Type 8.

Pathways for Nephrotic Syndrome, Type 8

GO Terms for Nephrotic Syndrome, Type 8

Sources for Nephrotic Syndrome, Type 8

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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