MCID: NPH086
MIFTS: 19

Nephronophthisis 20

Categories: Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Nephronophthisis 20

MalaCards integrated aliases for Nephronophthisis 20:

Name: Nephronophthisis 20 57 12 75 29 6
Nphp20 57 12 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in first decade
progressive disorder
variable severity
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 progressive variable expressivity


Classifications:



External Ids:

OMIM 57 617271
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

UniProtKB/Swiss-Prot : 75 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.

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

Related Diseases for Nephronophthisis 20

Symptoms & Phenotypes for Nephronophthisis 20

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Kidneys:
nephronophthisis
renal failure
end-stage renal disease
atrophic renal tubules
thickening of the basement membrane
more

Clinical features from OMIM:

617271

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

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

Variations for Nephronophthisis 20

ClinVar genetic disease variations for Nephronophthisis 20:

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 MAPKBP1 NM_001128608.1(MAPKBP1): c.592C> T (p.Arg198Ter) single nucleotide variant Pathogenic rs1057519303 GRCh38 Chromosome 15, 41812609: 41812609
2 MAPKBP1 NM_001128608.1(MAPKBP1): c.592C> T (p.Arg198Ter) single nucleotide variant Pathogenic rs1057519303 GRCh37 Chromosome 15, 42104807: 42104807
3 MAPKBP1 NM_001128608.1(MAPKBP1): c.4393C> T (p.Arg1465Ter) single nucleotide variant Pathogenic rs1057519304 GRCh37 Chromosome 15, 42117482: 42117482
4 MAPKBP1 NM_001128608.1(MAPKBP1): c.4393C> T (p.Arg1465Ter) single nucleotide variant Pathogenic rs1057519304 GRCh38 Chromosome 15, 41825284: 41825284
5 MAPKBP1 NM_001128608.1(MAPKBP1): c.1318C> T (p.Arg440Ter) single nucleotide variant Pathogenic rs202001274 GRCh37 Chromosome 15, 42107586: 42107586
6 MAPKBP1 NM_001128608.1(MAPKBP1): c.1318C> T (p.Arg440Ter) single nucleotide variant Pathogenic rs202001274 GRCh38 Chromosome 15, 41815388: 41815388
7 MAPKBP1 NM_001128608.1(MAPKBP1): c.1631G> A (p.Arg544Gln) single nucleotide variant Pathogenic rs1057519305 GRCh38 Chromosome 15, 41816937: 41816937
8 MAPKBP1 NM_001128608.1(MAPKBP1): c.1631G> A (p.Arg544Gln) single nucleotide variant Pathogenic rs1057519305 GRCh37 Chromosome 15, 42109135: 42109135
9 MAPKBP1 NM_001128608.1(MAPKBP1): c.2444-1G> A single nucleotide variant Pathogenic rs1057519306 GRCh37 Chromosome 15, 42111792: 42111792
10 MAPKBP1 NM_001128608.1(MAPKBP1): c.2444-1G> A single nucleotide variant Pathogenic rs1057519306 GRCh38 Chromosome 15, 41819594: 41819594
11 MAPKBP1 NM_001128608.1(MAPKBP1): c.2827C> T (p.Gln943Ter) single nucleotide variant Pathogenic rs752616462 GRCh37 Chromosome 15, 42113872: 42113872
12 MAPKBP1 NM_001128608.1(MAPKBP1): c.2827C> T (p.Gln943Ter) single nucleotide variant Pathogenic rs752616462 GRCh38 Chromosome 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

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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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