NPHS8
MCID: NPH073
MIFTS: 23

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 58 30 13 6 41 74
Nphs8 58 76
Nephrotic Syndrome Type 8 12
Nephrotic Syndrome 8 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
rapidly progressive
onset in first weeks of life
fatal if renal transplant is not performed


HPO:

33
nephrotic syndrome, type 8:
Onset and clinical course rapidly progressive neonatal onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Nephrotic Syndrome, Type 8

UniProtKB/Swiss-Prot : 76 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 kidney and endothelial, and related phenotypes are intellectual disability and seizures

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.

Description from OMIM: 615244

Related Diseases for Nephrotic Syndrome, Type 8

Symptoms & Phenotypes for Nephrotic Syndrome, Type 8

Human phenotypes related to Nephrotic Syndrome, Type 8:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 seizures 33 HP:0001250
3 sensorineural hearing impairment 33 HP:0000407
4 proteinuria 33 HP:0000093
5 edema 33 HP:0000969
6 nephrotic syndrome 33 HP:0000100
7 hypoalbuminemia 33 HP:0003073
8 chronic kidney disease 33 HP:0012622
9 thin glomerular basement membrane 33 HP:0012577
10 diffuse mesangial sclerosis 33 HP:0001967
11 cerebral visual impairment 33 HP:0100704

Symptoms via clinical synopsis from OMIM:

58
Laboratory Abnormalities:
proteinuria
hypoalbuminemia

Genitourinary Kidneys:
nephrotic syndrome
renal failure, progressive
diffuse mesangial sclerosis
abnormal glomeruli seen on biopsy
hypercellularity
more
Head And Neck Eyes:
cortical blindness (in 1 moroccan patient)

Muscle Soft Tissue:
edema

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

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 30 ARHGDIA

Anatomical Context for Nephrotic Syndrome, Type 8

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

42
Kidney, Endothelial

Publications for Nephrotic Syndrome, Type 8

Variations for Nephrotic Syndrome, Type 8

ClinVar genetic disease variations for Nephrotic Syndrome, Type 8:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ARHGDIA NM_004309.5(ARHGDIA): c.553_555delGAC (p.Asp185del) deletion Pathogenic rs587776969 GRCh37 Chromosome 17, 79826812: 79826814
2 ARHGDIA NM_004309.5(ARHGDIA): c.553_555delGAC (p.Asp185del) deletion Pathogenic rs587776969 GRCh38 Chromosome 17, 81868936: 81868938
3 ARHGDIA NM_004309.5(ARHGDIA): c.518G> T (p.Gly173Val) single nucleotide variant Pathogenic rs587777552 GRCh37 Chromosome 17, 79826849: 79826849
4 ARHGDIA NM_004309.5(ARHGDIA): c.518G> T (p.Gly173Val) single nucleotide variant Pathogenic rs587777552 GRCh38 Chromosome 17, 81868973: 81868973
5 ARHGDIA NM_004309.5(ARHGDIA): c.358C> T (p.Arg120Ter) single nucleotide variant Pathogenic rs587777553 GRCh37 Chromosome 17, 79827106: 79827106
6 ARHGDIA NM_004309.5(ARHGDIA): c.358C> T (p.Arg120Ter) single nucleotide variant Pathogenic rs587777553 GRCh38 Chromosome 17, 81869230: 81869230

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
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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