NPHS16
MCID: NPH104
MIFTS: 18

Nephrotic Syndrome, Type 16 (NPHS16)

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

Aliases & Classifications for Nephrotic Syndrome, Type 16

MalaCards integrated aliases for Nephrotic Syndrome, Type 16:

Name: Nephrotic Syndrome, Type 16 57 75
Nephrotic Syndrome Type 16 29 6
Nephrotic Syndrome 16 12 75
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, Type 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, Type 16, is also known as nephrotic syndrome type 16. An important gene associated with Nephrotic Syndrome, Type 16 is KANK2 (KN Motif And Ankyrin Repeat Domains 2). Affiliated tissues include kidney, and related phenotypes are proteinuria and nephrotic syndrome

Description from OMIM: 617783

Related Diseases for Nephrotic Syndrome, Type 16

Symptoms & Phenotypes for Nephrotic Syndrome, Type 16

Symptoms via clinical synopsis from OMIM:

57
Laboratory Abnormalities:
proteinuria
hematuria

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


Clinical features from OMIM:

617783

Human phenotypes related to Nephrotic Syndrome, Type 16:

32
# Description HPO Frequency HPO Source Accession
1 proteinuria 32 HP:0000093
2 nephrotic syndrome 32 HP:0000100
3 hematuria 32 HP:0000790

Drugs & Therapeutics for Nephrotic Syndrome, Type 16

Search Clinical Trials , NIH Clinical Center for Nephrotic Syndrome, Type 16

Genetic Tests for Nephrotic Syndrome, Type 16

Genetic tests related to Nephrotic Syndrome, Type 16:

# Genetic test Affiliating Genes
1 Nephrotic Syndrome Type 16 29 KANK2

Anatomical Context for Nephrotic Syndrome, Type 16

MalaCards organs/tissues related to Nephrotic Syndrome, Type 16:

41
Kidney

Publications for Nephrotic Syndrome, Type 16

Variations for Nephrotic Syndrome, Type 16

ClinVar genetic disease variations for Nephrotic Syndrome, Type 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, Type 16

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

Pathways for Nephrotic Syndrome, Type 16

GO Terms for Nephrotic Syndrome, Type 16

Sources for Nephrotic Syndrome, Type 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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