NPHP20
MCID: NPH086
MIFTS: 22

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 57 12 74 29 6
Nphp20 57 12 74

Characteristics:

OMIM:

57
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:

32
nephronophthisis 20:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity progressive


Classifications:



External Ids:

Disease Ontology 12 DOID:0111127
MeSH 44 D052177

Summaries for Nephronophthisis 20

OMIM : 57 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, is also known as nphp20. An important gene associated with Nephronophthisis 20 is MAPKBP1 (Mitogen-Activated Protein Kinase Binding Protein 1). Affiliated tissues include kidney and liver, and related phenotypes are nephronophthisis and renal cyst

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 : 74 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

Symptoms & Phenotypes for Nephronophthisis 20

Human phenotypes related to Nephronophthisis 20:

32
# Description HPO Frequency HPO Source Accession
1 nephronophthisis 32 HP:0000090
2 renal cyst 32 HP:0000107
3 stage 5 chronic kidney disease 32 HP:0003774

Symptoms via clinical synopsis from OMIM:

57
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:

41
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. 8 71
28089251 2017
2
Nephronophthisis 71
27336129 2016

Variations for Nephronophthisis 20

ClinVar genetic disease variations for Nephronophthisis 20:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MAPKBP1 NM_001128608.2(MAPKBP1): c.592C> T (p.Arg198Ter) single nucleotide variant Pathogenic rs1057519303 15:42104807-42104807 15:41812609-41812609
2 MAPKBP1 NM_001128608.2(MAPKBP1): c.4393C> T (p.Arg1465Ter) single nucleotide variant Pathogenic rs1057519304 15:42117482-42117482 15:41825284-41825284
3 MAPKBP1 NM_001128608.2(MAPKBP1): c.1318C> T (p.Arg440Ter) single nucleotide variant Pathogenic rs202001274 15:42107586-42107586 15:41815388-41815388
4 MAPKBP1 NM_001128608.2(MAPKBP1): c.1631G> A (p.Arg544Gln) single nucleotide variant Pathogenic rs1057519305 15:42109135-42109135 15:41816937-41816937
5 MAPKBP1 NM_001128608.2(MAPKBP1): c.2444-1G> A single nucleotide variant Pathogenic rs1057519306 15:42111792-42111792 15:41819594-41819594
6 MAPKBP1 NM_001128608.2(MAPKBP1): c.2827C> T (p.Gln943Ter) single nucleotide variant Pathogenic rs752616462 15:42113872-42113872 15:41821674-41821674

Expression for Nephronophthisis 20

Search GEO for disease gene expression data for Nephronophthisis 20.

Pathways for Nephronophthisis 20

GO Terms for Nephronophthisis 20

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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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