MCID: NPH019
MIFTS: 42

Nephronophthisis 1

Categories: Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Nephronophthisis 1

MalaCards integrated aliases for Nephronophthisis 1:

Name: Nephronophthisis 1 57 12 75 29 6
Nphp1 57 12 75 55
Nephronophthisis, Familial Juvenile 57 73
Nephronophthisis 1, Juvenile 57 13
Nph1 57 12
Familial Juvenile Nephronophthisis 1 75
Juvenile Nephronophthisis 1 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
medial onset of end stage renal disease 13 years
allelic to senior-loken syndrome 1 and joubert syndrome 4


HPO:

32
nephronophthisis 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Nephronophthisis 1

OMIM : 57 Nephronophthisis is an autosomal recessive cystic kidney disease that leads to renal failure in childhood or adolescence. It is the most frequent genetic cause of renal failure in children. NPHP may be combined with extrarenal manifestations, such as liver fibrosis, situs inversus, or cardiac malformations. When nephronophthisis is combined with retinitis pigmentosa, the disorder is known as Senior-Loken syndrome (SLSN1; 266900); when it is combined with cerebellar vermis hypoplasia, the disorder is known as Joubert syndrome (JBTS1; 213300); and when it is combined with multiple developmental and neurologic abnormalities, the disorder is often known as Meckel-Gruber syndrome (MKS1; 249000). Because most NPHP gene products localize to the cilium or its associated structures, nephronophthisis and the related syndromes have been termed 'ciliopathies' (summary by Hoff et al., 2013). Clinical features of familial juvenile nephronophthisis include anemia, polyuria, polydipsia, isosthenuria, and death in uremia. Simms et al. (2009) provided a detailed review of nephronophthisis, including a discussion of clinical features and molecular genetics. (256100)

MalaCards based summary : Nephronophthisis 1, also known as nphp1, is related to juvenile nephronophthisis and joubert syndrome 1, and has symptoms including polyuria and polydipsia. An important gene associated with Nephronophthisis 1 is NPHP1 (Nephrocystin 1), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. Affiliated tissues include kidney and liver, and related phenotypes are nephronophthisis and tubular atrophy

Disease Ontology : 12 A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in or deletion of the NPHP1 gene on chromosome 2q13.

UniProtKB/Swiss-Prot : 75 Nephronophthisis 1: An autosomal recessive inherited disease characterized by anemia, polyuria, polydipsia, isosthenuria and death in uremia. Symmetrical destruction of the kidneys involving both tubules and glomeruli occurs. The underlying pathology is a chronic tubulo-interstitial nephropathy with characteristic tubular basement membrane thickening and medullary cyst formation. Associations with extrarenal symptoms, especially ocular lesions, are frequent. The age at death ranges from about 4 to 15 years.

Related Diseases for Nephronophthisis 1

Diseases in the Nephronophthisis family:

Nephronophthisis 1 Nephronophthisis 2
Nephronophthisis 3 Nephronophthisis 4
Nephronophthisis 7 Nephronophthisis 11
Nephronophthisis 12 Nephronophthisis 9
Nephronophthisis 13 Nephronophthisis 14
Nephronophthisis 15 Nephronophthisis 16
Nephronophthisis 18 Nephronophthisis 19
Nephronophthisis 20 Infantile Nephronophthisis
Juvenile Nephronophthisis Late-Onset Nephronophthisis

Diseases related to Nephronophthisis 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 22)
# Related Disease Score Top Affiliating Genes
1 juvenile nephronophthisis 30.8 INVS NPHP1 NPHP3 NPHP4
2 joubert syndrome 1 28.1 AHI1 INVS NPHP1 NPHP4
3 nephronophthisis 25.3 AHI1 BCAR1 INVS NPHP1 NPHP3 NPHP4
4 nephronophthisis 4 10.1 NPHP1 NPHP4
5 senior-løken syndrome 10.1 NPHP3 NPHP4
6 hyperuricemic nephropathy, familial juvenile, 1 10.1 NPHP1 NPHP4
7 retinal aplasia 10.0 NPHP1 NPHP4
8 polycystic liver disease 1 with or without kidney cysts 9.7 NPHP1 NPHP4 PKD1
9 renal fibrosis 9.7 NPHP1 NPHP4
10 renal-hepatic-pancreatic dysplasia 9.5 INVS NPHP3
11 infantile nephronophthisis 9.5 INVS NPHP3 NPHP4
12 visceral heterotaxy 9.5 INVS NPHP1 NPHP3
13 bardet-biedl syndrome 13 9.4 AHI1 INVS NPHP3
14 chronic kidney failure 9.3 INVS NPHP1 PKD1
15 leber congenital amaurosis 9.2 AHI1 NPHP1 NPHP3 NPHP4
16 nephronophthisis 2 9.1 INVS NPHP1 NPHP3 NPHP4
17 cogan syndrome 9.1 INVS NPHP1 NPHP3 NPHP4
18 meckel syndrome, type 1 9.0 AHI1 INVS NPHP1 NPHP4
19 bardet-biedl syndrome 8.9 INVS NPHP1 NPHP4 PKD1
20 senior-loken syndrome 1 8.5 AHI1 INVS NPHP1 NPHP3 NPHP4
21 retinitis pigmentosa 8.3 AHI1 INVS NPHP1 NPHP3 NPHP4
22 cystic kidney disease 7.5 BCAR1 INVS NPHP1 NPHP3 NPHP4 PKD1

Graphical network of the top 20 diseases related to Nephronophthisis 1:



Diseases related to Nephronophthisis 1

Symptoms & Phenotypes for Nephronophthisis 1

Symptoms via clinical synopsis from OMIM:

57
Metabolic Features:
polydipsia
polyuria
absence of hypertension

Genitourinary Kidneys:
nephronophthisis
tubular atrophy
interstitial fibrosis
end stage renal disease
tubular basement membrane disintegration
more
Laboratory Abnormalities:
hyposthenuria (inability to concentrate urine normally)

Hematology:
anemia

Growth Other:
growth retardation


Clinical features from OMIM:

256100

Human phenotypes related to Nephronophthisis 1:

32 (show all 12)
# 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 hypertension 32 HP:0000822
6 growth delay 32 HP:0001510
7 anemia 32 HP:0001903
8 polydipsia 32 HP:0001959
9 hyposthenuria 32 HP:0003158
10 stage 5 chronic kidney disease 32 HP:0003774
11 tubulointerstitial fibrosis 32 HP:0005576
12 tubular basement membrane disintegration 32 HP:0005583

UMLS symptoms related to Nephronophthisis 1:


polyuria, polydipsia

MGI Mouse Phenotypes related to Nephronophthisis 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.55 PKD1 BCAR1 INVS NPHP3 NPHP4
2 cellular MP:0005384 9.5 PKD1 AHI1 BCAR1 INVS NPHP1 NPHP3
3 renal/urinary system MP:0005367 9.1 AHI1 INVS NPHP1 NPHP3 NPHP4 PKD1

Drugs & Therapeutics for Nephronophthisis 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Assessment of the Prevalence of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome Completed NCT00873678
2 Nephronophthisis : Clinical and Genetic Study Completed NCT01022957 Not Applicable
3 Hereditary Tubulointerstitial Nephritis Completed NCT01312727 Not Applicable

Search NIH Clinical Center for Nephronophthisis 1

Genetic Tests for Nephronophthisis 1

Genetic tests related to Nephronophthisis 1:

# Genetic test Affiliating Genes
1 Nephronophthisis 1 29 NPHP1

Anatomical Context for Nephronophthisis 1

MalaCards organs/tissues related to Nephronophthisis 1:

41
Kidney, Liver

Publications for Nephronophthisis 1

Articles related to Nephronophthisis 1:

# Title Authors Year
1
Identification of a novel polymorphism--the duplication of the NPHP1 (nephronophthisis 1) gene. ( 16892302 )
2006
2
Lack of large, homozygous deletions of the nephronophthisis 1 region in Joubert syndrome type B. APN Study Group. Arbeitsgemeinschaft fA1r PAodiatrische Nephrologie. ( 9502560 )
1998

Variations for Nephronophthisis 1

UniProtKB/Swiss-Prot genetic disease variations for Nephronophthisis 1:

75
# Symbol AA change Variation ID SNP ID
1 NPHP1 p.Gly342Arg VAR_012160 rs121907899

ClinVar genetic disease variations for Nephronophthisis 1:

6
(show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 NPHP1 NPHP1, IVS18, G-T, +1 single nucleotide variant Pathogenic
2 NPHP1 NPHP1, IVS14, 1-BP DEL, G, +1 deletion Pathogenic
3 NPHP1 NM_000272.3(NPHP1): c.80T> A (p.Leu27Ter) single nucleotide variant Pathogenic rs121907898 GRCh37 Chromosome 2, 110959061: 110959061
4 NPHP1 NM_000272.3(NPHP1): c.80T> A (p.Leu27Ter) single nucleotide variant Pathogenic rs121907898 GRCh38 Chromosome 2, 110201484: 110201484
5 NPHP1 NM_000272.3(NPHP1): c.1027G> A (p.Gly343Arg) single nucleotide variant Pathogenic rs121907899 GRCh37 Chromosome 2, 110920625: 110920625
6 NPHP1 NM_000272.3(NPHP1): c.1027G> A (p.Gly343Arg) single nucleotide variant Pathogenic rs121907899 GRCh38 Chromosome 2, 110163048: 110163048
7 NPHP1 NPHP1, DEL deletion Pathogenic
8 NPHP1 NM_000272.3(NPHP1): c.1184dupC (p.Leu396Serfs) duplication Pathogenic rs398123285 GRCh37 Chromosome 2, 110917771: 110917771
9 NPHP1 NM_000272.3(NPHP1): c.1184dupC (p.Leu396Serfs) duplication Pathogenic rs398123285 GRCh38 Chromosome 2, 110160194: 110160194
10 NPHP1 NM_000272.3(NPHP1): c.625-3dupT duplication Uncertain significance rs200118387 GRCh38 Chromosome 2, 110165158: 110165158
11 NPHP1 NM_000272.3(NPHP1): c.625-3dupT duplication Uncertain significance rs200118387 GRCh37 Chromosome 2, 110922735: 110922735
12 NPHP1 NM_000272.3(NPHP1): c.232T> C (p.Tyr78His) single nucleotide variant Conflicting interpretations of pathogenicity rs140446520 GRCh37 Chromosome 2, 110936097: 110936097
13 NPHP1 NM_000272.3(NPHP1): c.232T> C (p.Tyr78His) single nucleotide variant Conflicting interpretations of pathogenicity rs140446520 GRCh38 Chromosome 2, 110178520: 110178520
14 NPHP1 NM_000272.3(NPHP1): c.555dupA (p.Pro186Thrfs) duplication Pathogenic rs886042650 GRCh37 Chromosome 2, 110926098: 110926098
15 NPHP1 NM_000272.3(NPHP1): c.555dupA (p.Pro186Thrfs) duplication Pathogenic rs886042650 GRCh38 Chromosome 2, 110168521: 110168521
16 NPHP1 NM_000272.3(NPHP1): c.1529_1530delAG (p.Glu510Alafs) deletion Pathogenic GRCh37 Chromosome 2, 110902137: 110902138
17 NPHP1 NM_000272.3(NPHP1): c.1529_1530delAG (p.Glu510Alafs) deletion Pathogenic GRCh38 Chromosome 2, 110144560: 110144561
18 NPHP1 NC_000002.11: g.110852960_110975102del122143 deletion Pathogenic GRCh37 Chromosome 2, 110852960: 110975102

Expression for Nephronophthisis 1

Search GEO for disease gene expression data for Nephronophthisis 1.

Pathways for Nephronophthisis 1

Pathways related to Nephronophthisis 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.75 AHI1 NPHP1 NPHP3 NPHP4 PKD1
2
Show member pathways
10.99 NPHP3 PKD1

GO Terms for Nephronophthisis 1

Cellular components related to Nephronophthisis 1 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.71 AHI1 INVS NPHP1 NPHP4
2 cell junction GO:0030054 9.62 AHI1 BCAR1 NPHP1 NPHP4
3 bicellular tight junction GO:0005923 9.49 NPHP1 NPHP4
4 ciliary basal body GO:0036064 9.48 AHI1 NPHP4
5 motile cilium GO:0031514 9.46 NPHP1 PKD1
6 adherens junction GO:0005912 9.43 AHI1 NPHP1
7 cell projection GO:0042995 9.43 AHI1 INVS NPHP1 NPHP3 NPHP4 PKD1
8 photoreceptor connecting cilium GO:0032391 9.37 NPHP1 NPHP4
9 cell-cell junction GO:0005911 9.33 AHI1 NPHP1 NPHP4
10 non-motile cilium GO:0097730 9.26 AHI1 NPHP4
11 cilium GO:0005929 9.1 AHI1 INVS NPHP1 NPHP3 NPHP4 PKD1

Biological processes related to Nephronophthisis 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of canonical Wnt signaling pathway GO:0090090 9.54 INVS NPHP3 NPHP4
2 cell-cell adhesion GO:0098609 9.5 NPHP1 NPHP4 PKD1
3 kidney development GO:0001822 9.48 NPHP3 PKD1
4 retina development in camera-type eye GO:0060041 9.46 NPHP1 NPHP4
5 heart looping GO:0001947 9.43 AHI1 NPHP3
6 photoreceptor cell maintenance GO:0045494 9.4 NPHP3 NPHP4
7 ciliary basal body-plasma membrane docking GO:0097711 9.33 AHI1 NPHP1 NPHP4
8 photoreceptor cell outer segment organization GO:0035845 9.26 AHI1 NPHP4
9 visual behavior GO:0007632 8.96 NPHP1 NPHP4
10 positive regulation of bicellular tight junction assembly GO:1903348 8.62 NPHP1 NPHP4

Sources for Nephronophthisis 1

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
Content
Loading form....