NPHP20
MCID: NPH086
MIFTS: 32

Nephronophthisis 20 (NPHP20)

Categories: Genetic diseases, Liver diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Nephronophthisis 20

MalaCards integrated aliases for Nephronophthisis 20:

Name: Nephronophthisis 20 56 12 73 29 6 15
Nphp20 56 12 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
progressive disorder
onset in first decade
onset of end-stage renal disease occurs in second or third decade
patients do not have extra-renal manifestations


HPO:

31
nephronophthisis 20:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity progressive


Classifications:



External Ids:

Disease Ontology 12 DOID:0111127
OMIM 56 617271
OMIM Phenotypic Series 56 PS256100
MeSH 43 D052177

Summaries for Nephronophthisis 20

OMIM : 56 Nephronophthisis-20 is an autosomal recessive tubulointerstitial nephritis characterized by progressive renal fibrosis resulting in end-stage renal failure. The age at onset is relatively late compared to other forms of NPHP, and patients develop end-stage renal disease in the second or third decades. Unlike most other forms of NPHP, NPHP20 does not have features of a ciliopathy and patients do not appear to have extrarenal manifestations (summary by Macia et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of nephronophthisis, see NPHP1 (256100). (617271)

MalaCards based summary : Nephronophthisis 20, also known as nphp20, is related to interstitial nephritis and senior-loken syndrome 1. An important gene associated with Nephronophthisis 20 is MAPKBP1 (Mitogen-Activated Protein Kinase Binding Protein 1), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Intraflagellar transport. Affiliated tissues include kidney and liver, and related phenotypes are renal cyst and nephronophthisis

Disease Ontology : 12 A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the MAPKBP1 gene on chromosome 15q15.

UniProtKB/Swiss-Prot : 73 Nephronophthisis 20: A form of nephronophthisis, an autosomal recessive chronic tubulo- interstitial nephritis that progresses to end-stage renal failure. Some patients have cystic kidneys of normal size and no extrarenal manifestations, whereas others have enlarged renal size and severe extrarenal defects, including hypertrophic obstructive cardiomyopathy, aortic stenosis, pulmonary stenosis, patent ductus arteriosus, situs inversus, and periportal liver fibrosis. NPHP20 patients do not show extrarenal manifestations or evidence of a ciliopathy, such as situs inversus or polydactyly.

Related Diseases for Nephronophthisis 20

Graphical network of the top 20 diseases related to Nephronophthisis 20:



Diseases related to Nephronophthisis 20

Symptoms & Phenotypes for Nephronophthisis 20

Human phenotypes related to Nephronophthisis 20:

31
# Description HPO Frequency HPO Source Accession
1 renal cyst 31 HP:0000107
2 nephronophthisis 31 HP:0000090
3 stage 5 chronic kidney disease 31 HP:0003774

Symptoms via clinical synopsis from OMIM:

56
Genitourinary Kidneys:
nephronophthisis
renal cysts
renal failure
interstitial fibrosis
end-stage renal disease
more

Clinical features from OMIM:

617271

Drugs & Therapeutics for Nephronophthisis 20

Search Clinical Trials , NIH Clinical Center for Nephronophthisis 20

Genetic Tests for Nephronophthisis 20

Genetic tests related to Nephronophthisis 20:

# Genetic test Affiliating Genes
1 Nephronophthisis 20 29 MAPKBP1

Anatomical Context for Nephronophthisis 20

MalaCards organs/tissues related to Nephronophthisis 20:

40
Kidney, Liver

Publications for Nephronophthisis 20

Articles related to Nephronophthisis 20:

# Title Authors PMID Year
1
Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis. 56 6
28089251 2017
2
Nephronophthisis 6
27336129 2016

Variations for Nephronophthisis 20

ClinVar genetic disease variations for Nephronophthisis 20:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MAPKBP1 NM_014994.3(MAPKBP1):c.592C>T (p.Arg198Ter)SNV Pathogenic 374915 rs1057519303 15:42104807-42104807 15:41812609-41812609
2 MAPKBP1 NM_014994.3(MAPKBP1):c.4375C>T (p.Arg1459Ter)SNV Pathogenic 374916 rs1057519304 15:42117482-42117482 15:41825284-41825284
3 MAPKBP1 NM_014994.3(MAPKBP1):c.1300C>T (p.Arg434Ter)SNV Pathogenic 374917 rs202001274 15:42107586-42107586 15:41815388-41815388
4 MAPKBP1 NM_014994.3(MAPKBP1):c.1613G>A (p.Arg538Gln)SNV Pathogenic 374918 rs1057519305 15:42109135-42109135 15:41816937-41816937
5 MAPKBP1 NM_014994.3(MAPKBP1):c.2426-1G>ASNV Pathogenic 374919 rs1057519306 15:42111792-42111792 15:41819594-41819594
6 MAPKBP1 NM_014994.3(MAPKBP1):c.2809C>T (p.Gln937Ter)SNV Pathogenic 374920 rs752616462 15:42113872-42113872 15:41821674-41821674
7 MAPKBP1 NM_014994.3(MAPKBP1):c.934C>T (p.Arg312Ter)SNV Likely pathogenic 800821 15:42105933-42105933 15:41813735-41813735

Expression for Nephronophthisis 20

Search GEO for disease gene expression data for Nephronophthisis 20.

Pathways for Nephronophthisis 20

Pathways related to Nephronophthisis 20 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.65 TRAF3IP1 IFT46 FBF1 CEP164
2 10.57 TRAF3IP1 IFT46

GO Terms for Nephronophthisis 20

Cellular components related to Nephronophthisis 20 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ciliary basal body GO:0036064 9.43 TRAF3IP1 IFT46 FBF1
2 centriole GO:0005814 9.4 FBF1 CEP164
3 ciliary tip GO:0097542 9.37 TRAF3IP1 IFT46
4 intraciliary transport particle B GO:0030992 9.32 TRAF3IP1 IFT46
5 centrosome GO:0005813 9.26 TRAF3IP1 IFT46 FBF1 CEP164
6 ciliary transition fiber GO:0097539 9.16 FBF1 CEP164
7 cytoskeleton GO:0005856 9.02 TRAF3IP1 MAPKBP1 IFT46 FBF1 CEP164

Biological processes related to Nephronophthisis 20 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ciliary basal body-plasma membrane docking GO:0097711 9.32 FBF1 CEP164
2 intraciliary transport involved in cilium assembly GO:0035735 9.26 TRAF3IP1 IFT46
3 intraciliary transport GO:0042073 9.16 TRAF3IP1 IFT46
4 cell projection organization GO:0030030 9.13 TRAF3IP1 FBF1 CEP164
5 cilium assembly GO:0060271 8.92 TRAF3IP1 IFT46 FBF1 CEP164

Sources for Nephronophthisis 20

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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