NPHS23
MCID: NPH115
MIFTS: 13

Nephrotic Syndrome, Type 23 (NPHS23)

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

Aliases & Classifications for Nephrotic Syndrome, Type 23

MalaCards integrated aliases for Nephrotic Syndrome, Type 23:

Name: Nephrotic Syndrome, Type 23 57
Nphs23 57

Characteristics:

OMIM®:

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

Miscellaneous:
onset in the first decade
two unrelated patients have been reported (last curated february 2021)
one patient had normal renal function and the other progressed to chronic kidney disease


Classifications:



External Ids:

OMIM® 57 619201
OMIM Phenotypic Series 57 PS256300

Summaries for Nephrotic Syndrome, Type 23

OMIM® : 57 Nephrotic syndrome type 23 (NPHS23) is an autosomal recessive renal disorder characterized by the onset of proteinuria in the first or second decade of life. The outcome is variable: some patients have normal renal function after many years, whereas others may progress to chronic kidney disease. Renal biopsy shows mesangial hypercellularity, consistent with minimal change disease, focal segmental glomerulosclerosis, and effacement of podocyte foot processes (summary by Solanki et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 (256300). (619201) (Updated 05-Mar-2021)

MalaCards based summary : Nephrotic Syndrome, Type 23, is also known as nphs23. An important gene associated with Nephrotic Syndrome, Type 23 is KIRREL1 (Kirre Like Nephrin Family Adhesion Molecule 1). Affiliated tissues include kidney.

Symptoms & Phenotypes for Nephrotic Syndrome, Type 23

Symptoms via clinical synopsis from OMIM®:

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

Genitourinary Kidneys:
nephrotic syndrome
focal segmental glomerulosclerosis
minimal change disease
effacement of podocyte foot processes
mesangial hypercellularity on biopsy

Clinical features from OMIM®:

619201 (Updated 05-Mar-2021)

Drugs & Therapeutics for Nephrotic Syndrome, Type 23

Search Clinical Trials , NIH Clinical Center for Nephrotic Syndrome, Type 23

Genetic Tests for Nephrotic Syndrome, Type 23

Anatomical Context for Nephrotic Syndrome, Type 23

MalaCards organs/tissues related to Nephrotic Syndrome, Type 23:

40
Kidney

Publications for Nephrotic Syndrome, Type 23

Articles related to Nephrotic Syndrome, Type 23:

# Title Authors PMID Year
1
Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome. 57
31472902 2019
2
Neph1 and nephrin interaction in the slit diaphragm is an important determinant of glomerular permeability. 57
12865409 2003

Variations for Nephrotic Syndrome, Type 23

Expression for Nephrotic Syndrome, Type 23

Search GEO for disease gene expression data for Nephrotic Syndrome, Type 23.

Pathways for Nephrotic Syndrome, Type 23

GO Terms for Nephrotic Syndrome, Type 23

Sources for Nephrotic Syndrome, Type 23

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
Content
Loading form....