MCID: NPH073
MIFTS: 21

Nephrotic Syndrome, Type 8

Categories: Genetic diseases, Nephrological diseases, Rare diseases, Blood diseases, Immune diseases, Metabolic diseases, Endocrine 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 40 73
Nphs8 57 75
Nephrotic Syndrome 8 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
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 : 75 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 proteinuria and nephrotic syndrome

Description from OMIM: 615244

Related Diseases for Nephrotic Syndrome, Type 8

Symptoms & Phenotypes for Nephrotic Syndrome, Type 8

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Nephrotic Syndrome, Type 8:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 proteinuria 32 HP:0000093
2 nephrotic syndrome 32 HP:0000100
3 sensorineural hearing impairment 32 HP:0000407
4 edema 32 HP:0000969
5 intellectual disability 32 HP:0001249
6 diffuse mesangial sclerosis 32 HP:0001967
7 hypoalbuminemia 32 HP:0003073
8 thin glomerular basement membrane 32 HP:0012577
9 chronic kidney disease 32 HP:0012622
10 cortical visual impairment 32 HP:0100704

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:

41
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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