NPHS21
MCID: NPH111
MIFTS: 19

Nephrotic Syndrome, Type 21 (NPHS21)

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

Aliases & Classifications for Nephrotic Syndrome, Type 21

MalaCards integrated aliases for Nephrotic Syndrome, Type 21:

Name: Nephrotic Syndrome, Type 21 56 6
Nphs21 56 73
Nephrotic Syndrome 21 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in the first year of life
some patients may have variable extra-renal manifestations
three unrelated patients have been reported (last curated september 2019)


Classifications:



External Ids:

OMIM 56 618594
OMIM Phenotypic Series 56 PS256300
MeSH 43 D009404
MedGen 41 CN262329

Summaries for Nephrotic Syndrome, Type 21

OMIM : 56 Nephrotic syndrome type 21 (NPHS21) is an autosomal recessive renal disorder characterized by onset of kidney dysfunction in the first year of life. Laboratory studies show proteinuria and renal biopsy shows diffuse mesangial sclerosis. The disorder is rapidly progressive and ultimately results in end-stage renal disease. Some patients with variable extrarenal manifestations, such as microcephaly or impaired intellectual development, have been reported, but it is not clear whether these features are consistently part of the phenotype (summary by Rao et al., 2017). (Rao et al. (2017) designated the disorder NPHS25.) For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300). (618594)

MalaCards based summary : Nephrotic Syndrome, Type 21, also known as nphs21, is related to nephrotic syndrome. An important gene associated with Nephrotic Syndrome, Type 21 is AVIL (Advillin). Affiliated tissues include kidney.

UniProtKB/Swiss-Prot : 73 Nephrotic syndrome 21: A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non- specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form that progresses to end-stage renal failure. NPHS21 is an autosomal recessive, rapidly progressive, steroid-resistant form characterized by onset of kidney dysfunction in the first year of life. Some patients may have variable extra-renal manifestations.

Related Diseases for Nephrotic Syndrome, Type 21

Symptoms & Phenotypes for Nephrotic Syndrome, Type 21

Symptoms via clinical synopsis from OMIM:

56
Laboratory Abnormalities:
proteinuria

Genitourinary Kidneys:
nephrotic syndrome
end stage renal failure
diffuse mesangial sclerosis on renal biopsy

Clinical features from OMIM:

618594

Drugs & Therapeutics for Nephrotic Syndrome, Type 21

Search Clinical Trials , NIH Clinical Center for Nephrotic Syndrome, Type 21

Genetic Tests for Nephrotic Syndrome, Type 21

Anatomical Context for Nephrotic Syndrome, Type 21

MalaCards organs/tissues related to Nephrotic Syndrome, Type 21:

40
Kidney

Publications for Nephrotic Syndrome, Type 21

Articles related to Nephrotic Syndrome, Type 21:

# Title Authors PMID Year
1
Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant nephrotic syndrome. 6 56
29058690 2017
2
Nephrotic syndrome associated with interferon-beta-1b therapy for multiple sclerosis. 61
17009081 2006
3
[Chemotherapy in nephrotic syndrome. 21 cases]. 61
5366610 1969

Variations for Nephrotic Syndrome, Type 21

ClinVar genetic disease variations for Nephrotic Syndrome, Type 21:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 AVIL NM_001172697.1(TSFM):c.572-208dupduplication Pathogenic 684651 12:58196129-58196130 12:57802346-57802347
2 AVIL NM_006576.3(AVIL):c.1337G>A (p.Arg446His)SNV Pathogenic 684649 12:58201268-58201268 12:57807485-57807485
3 AVIL NM_006576.3(AVIL):c.1273C>A (p.Leu425Met)SNV Pathogenic 684648 12:58201432-58201432 12:57807649-57807649
4 AVIL NM_006576.3(AVIL):c.404G>A (p.Arg135Gln)SNV Pathogenic 684650 12:58204845-58204845 12:57811062-57811062

Expression for Nephrotic Syndrome, Type 21

Search GEO for disease gene expression data for Nephrotic Syndrome, Type 21.

Pathways for Nephrotic Syndrome, Type 21

GO Terms for Nephrotic Syndrome, Type 21

Sources for Nephrotic Syndrome, Type 21

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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