MCID: NPH101
MIFTS: 15

Nephrotic Syndrome 16

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

Aliases & Classifications for Nephrotic Syndrome 16

MalaCards integrated aliases for Nephrotic Syndrome 16:

Name: Nephrotic Syndrome 16 57 12 75 6
Nphs16 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset between 2 and 3 years of age
two sibs from a consanguineous arab family and 1 unrelated child of european descent have been reported (last curated november 2017)


Classifications:



External Ids:

OMIM 57 617783
Disease Ontology 12 DOID:0080272
MeSH 44 D009404

Summaries for Nephrotic Syndrome 16

UniProtKB/Swiss-Prot : 75 Nephrotic syndrome 16: 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. NPHS16 inheritance is autosomal recessive.

MalaCards based summary : Nephrotic Syndrome 16, is also known as nphs16. An important gene associated with Nephrotic Syndrome 16 is KANK2 (KN Motif And Ankyrin Repeat Domains 2). Affiliated tissues include kidney.

Description from OMIM: 617783

Related Diseases for Nephrotic Syndrome 16

Symptoms & Phenotypes for Nephrotic Syndrome 16

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Kidneys:
nephrotic syndrome, steroid-dependent
renal biopsy shows minimal change disease

Laboratory Abnormalities:
proteinuria
hematuria


Clinical features from OMIM:

617783

Drugs & Therapeutics for Nephrotic Syndrome 16

Search Clinical Trials , NIH Clinical Center for Nephrotic Syndrome 16

Genetic Tests for Nephrotic Syndrome 16

Anatomical Context for Nephrotic Syndrome 16

MalaCards organs/tissues related to Nephrotic Syndrome 16:

41
Kidney

Publications for Nephrotic Syndrome 16

Variations for Nephrotic Syndrome 16

ClinVar genetic disease variations for Nephrotic Syndrome 16:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KANK2 NM_001136191.2(KANK2): c.541A> G (p.Ser181Gly) single nucleotide variant Pathogenic GRCh37 Chromosome 19, 11304215: 11304215
2 KANK2 NM_001136191.2(KANK2): c.541A> G (p.Ser181Gly) single nucleotide variant Pathogenic GRCh38 Chromosome 19, 11193539: 11193539
3 KANK2 NM_001136191.2(KANK2): c.2027C> T (p.Ser676Phe) single nucleotide variant Pathogenic GRCh38 Chromosome 19, 11174514: 11174514
4 KANK2 NM_001136191.2(KANK2): c.2027C> T (p.Ser676Phe) single nucleotide variant Pathogenic GRCh37 Chromosome 19, 11285190: 11285190

Expression for Nephrotic Syndrome 16

Search GEO for disease gene expression data for Nephrotic Syndrome 16.

Pathways for Nephrotic Syndrome 16

GO Terms for Nephrotic Syndrome 16

Sources for Nephrotic Syndrome 16

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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