NPHS24
MCID: NPH117
MIFTS: 14

Nephrotic Syndrome, Type 24 (NPHS24)

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

Aliases & Classifications for Nephrotic Syndrome, Type 24

MalaCards integrated aliases for Nephrotic Syndrome, Type 24:

Name: Nephrotic Syndrome, Type 24 57 6
Nphs24 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
slowly progressive
onset usually in early childhood
onset in adolescence has been reported


Classifications:



External Ids:

OMIM® 57 619263

Summaries for Nephrotic Syndrome, Type 24

OMIM® : 57 Nephrotic syndrome type 24 (NPHS24) is an autosomal recessive renal disorder characterized by onset of proteinuria and hypoalbuminemia in early childhood, although onset in the second decade has been reported. Additional features include edema and hyperlipidemia. The disorder is slowly progressive, and most patients eventually develop end-stage renal disease. Renal biopsy shows focal segmental glomerulosclerosis (FSGS) (summary by Schneider et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300). (619263) (Updated 20-May-2021)

MalaCards based summary : Nephrotic Syndrome, Type 24, is also known as nphs24. An important gene associated with Nephrotic Syndrome, Type 24 is DAAM2 (Dishevelled Associated Activator Of Morphogenesis 2).

Symptoms & Phenotypes for Nephrotic Syndrome, Type 24

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Laboratory Abnormalities:
proteinuria
hyperlipidemia
hypoalbuminemia

Genitourinary Kidneys:
nephrotic syndrome
end-stage renal disease
effacement of podocyte foot processes
focal segmental glomerulosclerosis seen on renal biopsy

Clinical features from OMIM®:

619263 (Updated 20-May-2021)

Drugs & Therapeutics for Nephrotic Syndrome, Type 24

Search Clinical Trials , NIH Clinical Center for Nephrotic Syndrome, Type 24

Genetic Tests for Nephrotic Syndrome, Type 24

Anatomical Context for Nephrotic Syndrome, Type 24

Publications for Nephrotic Syndrome, Type 24

Articles related to Nephrotic Syndrome, Type 24:

# Title Authors PMID Year
1
DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation. 6 57
33232676 2020

Variations for Nephrotic Syndrome, Type 24

ClinVar genetic disease variations for Nephrotic Syndrome, Type 24:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DAAM2 NM_001201427.2(DAAM2):c.361G>C (p.Glu121Gln) SNV Pathogenic 1054666 GRCh37: 6:39832783-39832783
GRCh38: 6:39865007-39865007
2 DAAM2 NM_001201427.2(DAAM2):c.1745C>A (p.Pro582His) SNV Pathogenic 1054668 GRCh37: 6:39847153-39847153
GRCh38: 6:39879377-39879377
3 DAAM2 NM_001201427.2(DAAM2):c.1004G>A (p.Arg335Gln) SNV Pathogenic 1054669 GRCh37: 6:39839308-39839308
GRCh38: 6:39871532-39871532
4 DAAM2 NM_001201427.2(DAAM2):c.1333C>T (p.Arg445Ter) SNV Pathogenic 1054670 GRCh37: 6:39846010-39846010
GRCh38: 6:39878234-39878234
5 DAAM2 NM_001201427.2(DAAM2):c.3083C>T (p.Ser1028Leu) SNV Pathogenic 1054671 GRCh37: 6:39869689-39869689
GRCh38: 6:39901913-39901913

Expression for Nephrotic Syndrome, Type 24

Search GEO for disease gene expression data for Nephrotic Syndrome, Type 24.

Pathways for Nephrotic Syndrome, Type 24

GO Terms for Nephrotic Syndrome, Type 24

Sources for Nephrotic Syndrome, Type 24

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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