NPHS16
MCID: NPH104
MIFTS: 20

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 56 73
Nephrotic Syndrome Type 16 12 29 6
Nphs16 56 73
Nephrotic Syndrome 16 73

Characteristics:

OMIM:

56
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)


HPO:

31
nephrotic syndrome, type 16:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080272
OMIM 56 617783
OMIM Phenotypic Series 56 PS256300
MeSH 43 D009404

Summaries for Nephrotic Syndrome, Type 16

UniProtKB/Swiss-Prot : 73 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 hematuria

Disease Ontology : 12 A familial nephrotic syndrome that has material basis in homozygous or compound heterozygous mutation in the KANK2 gene on chromosome 19p13.

More information from OMIM: 617783 PS256300

Symptoms & Phenotypes for Nephrotic Syndrome, Type 16

Human phenotypes related to Nephrotic Syndrome, Type 16:

31 (showing 3, show less)
# Description HPO Frequency HPO Source Accession
1 proteinuria 31 HP:0000093
2 hematuria 31 HP:0000790
3 nephrotic syndrome 31 HP:0000100

Symptoms via clinical synopsis from OMIM:

56
Laboratory Abnormalities:
proteinuria
hematuria

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

Clinical features from OMIM:

617783

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:

40
Kidney

Publications for Nephrotic Syndrome, Type 16

Articles related to Nephrotic Syndrome, Type 16:

(showing 6, show less)
# Title Authors PMID Year
1
KANK deficiency leads to podocyte dysfunction and nephrotic syndrome. 56 6
25961457 2015
2
The Clinical Course of Minimal Change Nephrotic Syndrome With Onset in Adulthood or Late Adolescence: A Case Series. 61
28089478 2017
3
A retrospective review of telehealth services for children referred to a paediatric nephrologist. 61
26231174 2015
4
Treatment of severe nephrotic syndrome with meclofenamate: an uncontrolled pilot study. 61
4021548 1985
5
Role of plasma vasopressin in the impairment of water excretion in nephrotic syndrome. 61
6727137 1984
6
Frequency and clinical features of urinary tract infection in paediatric out-patients in Nigeria. 61
6191625 1982

Variations for Nephrotic Syndrome, Type 16

ClinVar genetic disease variations for Nephrotic Syndrome, Type 16:

6 (showing 2, show less) ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KANK2 NM_001136191.3(KANK2):c.541A>G (p.Ser181Gly)SNV Pathogenic 446387 rs1555820663 19:11304215-11304215 19:11193539-11193539
2 KANK2 NM_001136191.3(KANK2):c.2027C>T (p.Ser676Phe)SNV Pathogenic 446388 rs1555816634 19:11285190-11285190 19:11174514-11174514

UniProtKB/Swiss-Prot genetic disease variations for Nephrotic Syndrome, Type 16:

73 (showing 2, show less)
# Symbol AA change Variation ID SNP ID
1 KANK2 p.Ser181Gly VAR_080959 rs155582066
2 KANK2 p.Ser676Phe VAR_080960 rs155581663

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 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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