MCID: NPH032
MIFTS: 34

Nephronophthisis 4

Categories: Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Nephronophthisis 4

MalaCards integrated aliases for Nephronophthisis 4:

Name: Nephronophthisis 4 57 12 75 29 13 6 73
Nphp4 57 12 75
Juvenile Nephronophthisis 4 12 75
Nephronophthisis 4, Juvenile 57
Nephronophthisis, Type 4 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
allelic to senior-loken syndrome 4


HPO:

32
nephronophthisis 4:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Nephronophthisis 4

UniProtKB/Swiss-Prot : 75 Nephronophthisis 4: An autosomal recessive inherited disease resulting in end-stage renal disease at age ranging between 6 and 35 years. It is a progressive tubulo-interstitial kidney disorder characterized by polydipsia, polyuria, anemia and growth retardation. The most prominent histological features are modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts.

MalaCards based summary : Nephronophthisis 4, also known as nphp4, is related to nephronophthisis and nephronophthisis 2, and has symptoms including polyuria and polydipsia. An important gene associated with Nephronophthisis 4 is NPHP4 (Nephrocystin 4). Affiliated tissues include kidney, and related phenotypes are nephronophthisis and tubular atrophy

Disease Ontology : 12 A nephronophthisis that has material basis in mutation in the NPHP4 gene on chromosome 1p36.31.

Description from OMIM: 606966

Related Diseases for Nephronophthisis 4

Graphical network of the top 20 diseases related to Nephronophthisis 4:



Diseases related to Nephronophthisis 4

Symptoms & Phenotypes for Nephronophthisis 4

Symptoms via clinical synopsis from OMIM:

57
Metabolic Features:
polydipsia
polyuria

Genitourinary Kidneys:
nephronophthisis
end stage renal disease (age 6-35 years)
interstitial cell infiltrate
renal tubular cell atrophy with corticomedullary cysts
renal interstitial fibrosis

Hematology:
anemia

Growth Other:
growth retardation


Clinical features from OMIM:

606966

Human phenotypes related to Nephronophthisis 4:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 nephronophthisis 32 HP:0000090
2 tubular atrophy 32 HP:0000092
3 polyuria 32 HP:0000103
4 renal corticomedullary cysts 32 HP:0000108
5 growth delay 32 HP:0001510
6 anemia 32 HP:0001903
7 polydipsia 32 HP:0001959
8 stage 5 chronic kidney disease 32 HP:0003774
9 tubulointerstitial fibrosis 32 HP:0005576

UMLS symptoms related to Nephronophthisis 4:


polyuria, polydipsia

Drugs & Therapeutics for Nephronophthisis 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Nephronophthisis : Clinical and Genetic Study Completed NCT01022957 Not Applicable
2 Somatosensory Modulation of Salivary Gene Expression and Oral Feeding in Preterm Infants Recruiting NCT02696343 Not Applicable

Search NIH Clinical Center for Nephronophthisis 4

Genetic Tests for Nephronophthisis 4

Genetic tests related to Nephronophthisis 4:

# Genetic test Affiliating Genes
1 Nephronophthisis 4 29 NPHP4

Anatomical Context for Nephronophthisis 4

MalaCards organs/tissues related to Nephronophthisis 4:

41
Kidney

Publications for Nephronophthisis 4

Articles related to Nephronophthisis 4:

# Title Authors Year
1
Analysis of a deletion in the nephronophthisis 4 gene in different dog breeds. ( 23998563 )
2014
2
A deletion in nephronophthisis 4 (NPHP4) is associated with recessive cone-rod dystrophy in standard wire-haired dachshund. ( 18687878 )
2008

Variations for Nephronophthisis 4

UniProtKB/Swiss-Prot genetic disease variations for Nephronophthisis 4:

75 (show all 14)
# Symbol AA change Variation ID SNP ID
1 NPHP4 p.Phe991Ser VAR_015186 rs28940891
2 NPHP4 p.Gly754Arg VAR_015214 rs373962831
3 NPHP4 p.Arg342Cys VAR_022529 rs190940697
4 NPHP4 p.Arg469Trp VAR_022530 rs758253306
5 NPHP4 p.Ala654Gly VAR_022534
6 NPHP4 p.Arg735Trp VAR_022535 rs191913664
7 NPHP4 p.Gln766Arg VAR_022538
8 NPHP4 p.Pro776Arg VAR_022539 rs201527181
9 NPHP4 p.His782Gln VAR_022540
10 NPHP4 p.Arg961His VAR_022543 rs183885357
11 NPHP4 p.Ala1098Thr VAR_022544 rs41280798
12 NPHP4 p.Arg1192Trp VAR_022545 rs139022622
13 NPHP4 p.Arg1284Cys VAR_022547 rs779755743
14 NPHP4 p.Gln1287Glu VAR_022548 rs201779243

ClinVar genetic disease variations for Nephronophthisis 4:

6
(show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 NPHP4 NM_015102.4(NPHP4): c.2368G> T (p.Glu790Ter) single nucleotide variant Pathogenic rs137852918 GRCh37 Chromosome 1, 5947463: 5947463
2 NPHP4 NM_015102.4(NPHP4): c.2368G> T (p.Glu790Ter) single nucleotide variant Pathogenic rs137852918 GRCh38 Chromosome 1, 5887403: 5887403
3 NPHP4 NM_015102.4(NPHP4): c.2377C> T (p.Gln793Ter) single nucleotide variant Pathogenic rs137852919 GRCh37 Chromosome 1, 5947454: 5947454
4 NPHP4 NM_015102.4(NPHP4): c.2377C> T (p.Gln793Ter) single nucleotide variant Pathogenic rs137852919 GRCh38 Chromosome 1, 5887394: 5887394
5 NPHP4 NM_015102.4(NPHP4): c.2044C> T (p.Arg682Ter) single nucleotide variant Pathogenic/Likely pathogenic rs137852920 GRCh37 Chromosome 1, 5964776: 5964776
6 NPHP4 NM_015102.4(NPHP4): c.2044C> T (p.Arg682Ter) single nucleotide variant Pathogenic/Likely pathogenic rs137852920 GRCh38 Chromosome 1, 5904716: 5904716
7 NPHP4 NM_015102.4(NPHP4): c.2972T> C (p.Phe991Ser) single nucleotide variant Pathogenic rs28940891 GRCh37 Chromosome 1, 5935006: 5935006
8 NPHP4 NM_015102.4(NPHP4): c.2972T> C (p.Phe991Ser) single nucleotide variant Pathogenic rs28940891 GRCh38 Chromosome 1, 5874946: 5874946
9 NPHP4 NPHP4, 1-BP DEL, 3272T deletion Pathogenic
10 NPHP4 NM_001291593.1(NPHP4): c.249_252delCTCC (p.Ser84Trpfs) deletion Likely pathogenic rs747699128 GRCh37 Chromosome 1, 5965516: 5965519
11 NPHP4 NM_001291593.1(NPHP4): c.249_252delCTCC (p.Ser84Trpfs) deletion Likely pathogenic rs747699128 GRCh38 Chromosome 1, 5905456: 5905459
12 NPHP4 NM_015102.4(NPHP4): c.1852G> A (p.Glu618Lys) single nucleotide variant Benign rs571655 GRCh37 Chromosome 1, 5965455: 5965455
13 NPHP4 NM_015102.4(NPHP4): c.1852G> A (p.Glu618Lys) single nucleotide variant Benign rs571655 GRCh38 Chromosome 1, 5905395: 5905395
14 NPHP4 duplication Pathogenic GRCh37 Chromosome 1, 5935034: 5935038
15 NPHP4 NM_015102.4(NPHP4): c.2011C> T (p.Gln671Ter) single nucleotide variant Pathogenic rs1025515771 GRCh37 Chromosome 1, 5964809: 5964809
16 NPHP4 NM_015102.4(NPHP4): c.2011C> T (p.Gln671Ter) single nucleotide variant Pathogenic rs1025515771 GRCh38 Chromosome 1, 5904749: 5904749
17 NPHP4 NM_015102.4(NPHP4): c.189_192delTGAT (p.Phe63Leufs) deletion Pathogenic GRCh37 Chromosome 1, 6038417: 6038420
18 NPHP4 NM_015102.4(NPHP4): c.189_192delTGAT (p.Phe63Leufs) deletion Pathogenic GRCh38 Chromosome 1, 5978357: 5978360

Expression for Nephronophthisis 4

Search GEO for disease gene expression data for Nephronophthisis 4.

Pathways for Nephronophthisis 4

GO Terms for Nephronophthisis 4

Cellular components related to Nephronophthisis 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cilium GO:0005929 9.26 NPHP1 NPHP4
2 cell-cell junction GO:0005911 9.16 NPHP1 NPHP4
3 bicellular tight junction GO:0005923 8.96 NPHP1 NPHP4
4 photoreceptor connecting cilium GO:0032391 8.62 NPHP1 NPHP4

Biological processes related to Nephronophthisis 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin cytoskeleton organization GO:0030036 9.37 NPHP1 NPHP4
2 cell-cell adhesion GO:0098609 9.32 NPHP1 NPHP4
3 ciliary basal body-plasma membrane docking GO:0097711 9.26 NPHP1 NPHP4
4 retina development in camera-type eye GO:0060041 9.16 NPHP1 NPHP4
5 visual behavior GO:0007632 8.96 NPHP1 NPHP4
6 positive regulation of bicellular tight junction assembly GO:1903348 8.62 NPHP1 NPHP4

Molecular functions related to Nephronophthisis 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 8.62 NPHP1 NPHP4

Sources for Nephronophthisis 4

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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