NPHS22
MCID: NPH114
MIFTS: 15

Nephrotic Syndrome, Type 22 (NPHS22)

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

Aliases & Classifications for Nephrotic Syndrome, Type 22

MalaCards integrated aliases for Nephrotic Syndrome, Type 22:

Name: Nephrotic Syndrome, Type 22 57 6
Nphs22 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
progressive disorder
two unrelated patients have been reported (last curated january 2021)


Classifications:



External Ids:

OMIM® 57 619155
OMIM Phenotypic Series 57 PS256300

Summaries for Nephrotic Syndrome, Type 22

OMIM® : 57 Nephrotic syndrome type 22 (NPHS22) is an autosomal recessive renal disease characterized by onset of progressive kidney dysfunction in infancy. Affected individuals usually present with edema associated with hypoproteinemia, proteinuria, and microscopic hematuria. Renal biopsy shows effacement of the podocyte foot processes, glomerulosclerosis, and thickening of the glomerular basement membrane. The disease is steroid-resistant and progressive, resulting in end-stage renal disease usually necessitating kidney transplant (Majmundar et al., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300). (619155) (Updated 05-Mar-2021)

MalaCards based summary : Nephrotic Syndrome, Type 22, is also known as nphs22. An important gene associated with Nephrotic Syndrome, Type 22 is NOS1AP (Nitric Oxide Synthase 1 Adaptor Protein). Affiliated tissues include kidney.

Symptoms & Phenotypes for Nephrotic Syndrome, Type 22

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Laboratory Abnormalities:
proteinuria
hypoproteinemia
microscopic hematuria

Skin Nails Hair Skin:
edema

Genitourinary Kidneys:
nephrotic syndrome
thickening of the glomerular basement membrane
end-stage renal disease
effacement of podocyte foot processes on electron microscopy
renal biopsy shows glomerulosclerosis
more
Muscle Soft Tissue:
edema

Clinical features from OMIM®:

619155 (Updated 05-Mar-2021)

Drugs & Therapeutics for Nephrotic Syndrome, Type 22

Search Clinical Trials , NIH Clinical Center for Nephrotic Syndrome, Type 22

Genetic Tests for Nephrotic Syndrome, Type 22

Anatomical Context for Nephrotic Syndrome, Type 22

MalaCards organs/tissues related to Nephrotic Syndrome, Type 22:

40
Kidney

Publications for Nephrotic Syndrome, Type 22

Articles related to Nephrotic Syndrome, Type 22:

# Title Authors PMID Year
1
Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice. 57
33523862 2021

Variations for Nephrotic Syndrome, Type 22

ClinVar genetic disease variations for Nephrotic Syndrome, Type 22:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NOS1AP NM_014697.3(NOS1AP):c.428G>A (p.Cys143Tyr) SNV Pathogenic 995841 1:162302890-162302890 1:162333100-162333100
2 NOS1AP NM_014697.3(NOS1AP):c.345-3T>G SNV Pathogenic 995842 1:162302804-162302804 1:162333014-162333014

Expression for Nephrotic Syndrome, Type 22

Search GEO for disease gene expression data for Nephrotic Syndrome, Type 22.

Pathways for Nephrotic Syndrome, Type 22

GO Terms for Nephrotic Syndrome, Type 22

Sources for Nephrotic Syndrome, Type 22

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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