MCID: JVN041
MIFTS: 36

Juvenile Nephronophthisis

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

Aliases & Classifications for Juvenile Nephronophthisis

MalaCards integrated aliases for Juvenile Nephronophthisis:

Name: Juvenile Nephronophthisis 60
Nephronophthisis, Familial Juvenile 74
Nephronophthisis 74

Characteristics:

Orphanet epidemiological data:

60
juvenile nephronophthisis
Inheritance: Autosomal recessive;

Classifications:

Orphanet: 60  
Rare renal diseases


External Ids:

ICD10 via Orphanet 35 Q61.5
UMLS via Orphanet 75 C1855681
Orphanet 60 ORPHA93592

Summaries for Juvenile Nephronophthisis

MalaCards based summary : Juvenile Nephronophthisis, also known as nephronophthisis, familial juvenile, is related to nephronophthisis 1 and nephronophthisis 4, and has symptoms including polydipsia and polyuria. An important gene associated with Juvenile Nephronophthisis is NPHP1 (Nephrocystin 1), and among its related pathways/superpathways is Organelle biogenesis and maintenance. Affiliated tissues include kidney and liver, and related phenotype is renal/urinary system.

Wikipedia : 77 Juvenile nephronophthisis is the juvenile form of nephronophthisis that causes end stage renal disease... more...

Related Diseases for Juvenile Nephronophthisis

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 Juvenile Nephronophthisis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
# Related Disease Score Top Affiliating Genes
1 nephronophthisis 1 33.0 INVS NPHP1 NPHP3 NPHP4
2 nephronophthisis 4 32.7 NPHP1 NPHP4
3 nephronophthisis 3 32.0 NPHP1 NPHP3
4 senior-loken syndrome 1 31.4 INVS IQCB1 NPHP1 NPHP3 NPHP4 WDR19
5 apraxia 30.0 NPHP1 NPHP4
6 joubert syndrome 1 29.6 INVS IQCB1 NPHP1 NPHP3 NPHP4
7 nephronophthisis 29.5 ANKS6 GLIS2 INVS IQCB1 MALL MAPKBP1
8 cystic kidney disease 29.4 ANKS6 INVS NPHP1 NPHP3 NPHP4
9 retinitis pigmentosa 28.6 INVS IQCB1 NPHP1 NPHP3 NPHP4 WDR19
10 alsing syndrome 11.2
11 medullary cystic kidney disease 1 11.2
12 arima syndrome 11.2
13 joubert syndrome 4 10.2
14 nephronophthisis 19 10.2 NPHP1 NPHP4
15 ocular motor apraxia 10.1
16 kidney disease 10.1
17 late-onset nephronophthisis 10.1 MAPKBP1 NPHP3
18 polycystic liver disease 1 with or without kidney cysts 10.1 NPHP1 NPHP4
19 cogan syndrome 10.0 NPHP1 NPHP3 NPHP4
20 retinal aplasia 10.0 IQCB1 NPHP1 NPHP4
21 meckel syndrome, type 6 10.0 INVS NPHP1 NPHP4
22 renal-hepatic-pancreatic dysplasia 10.0 INVS IQCB1 NPHP3
23 visceral heterotaxy 10.0 INVS NPHP1 NPHP3
24 coloboma of macula 10.0
25 peripheral dysostosis 10.0
26 renal tubular dysgenesis 10.0
27 aceruloplasminemia 10.0
28 leber congenital amaurosis 4 10.0
29 gout 10.0
30 epilepsy 10.0
31 dysostosis 10.0
32 retinitis 10.0
33 uremia 10.0
34 retinal degeneration 10.0
35 congenital hepatic fibrosis 10.0
36 interstitial nephritis 9.9 ANKS6 INVS
37 nephronophthisis 16 9.9 ANKS6 IQCB1 NPHP1
38 nephronophthisis 11 9.9 IQCB1 NPHP1 NPHP3 NPHP4
39 meckel syndrome, type 1 9.8 INVS IQCB1 NPHP1 NPHP4
40 leber congenital amaurosis 9.8 IQCB1 NPHP1 NPHP3 NPHP4
41 bardet-biedl syndrome 9.8 INVS NPHP1 NPHP4
42 nephronophthisis 18 9.7 INVS IQCB1 NPHP1 NPHP3 NPHP4
43 infantile nephronophthisis 9.7 ANKS6 INVS NPHP3 NPHP4
44 nephronophthisis 2 9.7 INVS IQCB1 NPHP1 NPHP3 NPHP4
45 nephronophthisis 9 9.5 ANKS6 INVS NPHP1 NPHP3 NPHP4
46 nephronophthisis 13 9.5 GLIS2 INVS NPHP1 WDR19
47 nephronophthisis 7 9.5 GLIS2 INVS NPHP1 WDR19

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



Diseases related to Juvenile Nephronophthisis

Symptoms & Phenotypes for Juvenile Nephronophthisis

UMLS symptoms related to Juvenile Nephronophthisis:


polydipsia, polyuria

MGI Mouse Phenotypes related to Juvenile Nephronophthisis:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.02 GLIS2 INVS NPHP1 NPHP3 NPHP4

Drugs & Therapeutics for Juvenile Nephronophthisis

Search Clinical Trials , NIH Clinical Center for Juvenile Nephronophthisis

Genetic Tests for Juvenile Nephronophthisis

Anatomical Context for Juvenile Nephronophthisis

MalaCards organs/tissues related to Juvenile Nephronophthisis:

42
Kidney, Liver

Publications for Juvenile Nephronophthisis

Articles related to Juvenile Nephronophthisis:

(show top 50) (show all 88)
# Title Authors Year
1
Juvenile nephronophthisis and dysthyroidism: a rare association. ( 28509138 )
2017
2
Brothers with ocular motor apraxia, juvenile nephronophthisis, and mild cerebellar defects. ( 27316287 )
2016
3
Renal tubular dysgenesis and tubulointerstitial nephritis antigen in juvenile nephronophthisis. ( 21265929 )
2011
4
Follow-up of patients with juvenile nephronophthisis after renal transplantation: a single center experience. ( 21486612 )
2011
5
A homozygous mutation in INVS causing juvenile nephronophthisis with abnormal reactivity of the Wnt/beta-catenin pathway. ( 20798123 )
2010
6
End-stage juvenile nephronophthisis on MRI. ( 20182708 )
2010
7
Juvenile nephronophthisis on MRI--a potential case of Joubert syndrome? ( 20490483 )
2010
8
Solution NMR structure of the SH3 domain of human nephrocystin and analysis of a mutation-causing juvenile nephronophthisis. ( 15723349 )
2005
9
The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. ( 15138899 )
2004
10
Cerebellar and brainstem involvement in familial juvenile nephronophthisis type I. ( 12699867 )
2003
11
Expression of nuclear transcription factor PAX2 in renal biopsies of juvenile nephronophthisis. ( 12138259 )
2002
12
The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin. ( 12244321 )
2002
13
Establishing an algorithm for molecular genetic diagnostics in 127 families with juvenile nephronophthisis. ( 11168925 )
2001
14
Improved strategy for molecular genetic diagnostics in juvenile nephronophthisis. ( 11382680 )
2001
15
Juvenile nephronophthisis and related variants: clinical features and molecular approach. ( 11688404 )
2001
16
Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis. ( 10839884 )
2000
17
Clinical and molecular heterogeneity of juvenile nephronophthisis in Italy: insights from molecular screening. ( 10620543 )
2000
18
Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis. ( 10712196 )
2000
19
A deletion distinct from the classical homologous recombination of juvenile nephronophthisis type 1 (NPH1) allows exact molecular definition of deletion breakpoints. ( 10980528 )
2000
20
Familial juvenile nephronophthisis. An ultrasonographic follow-up of seven patients. ( 9498877 )
1998
21
Sonographic findings in familial juvenile nephronophthisis-medullary cystic disease complex. ( 9572384 )
1998
22
Familial juvenile nephronophthisis. ( 9587065 )
1998
23
Molecular studies in Finnish patients with familial juvenile nephronophthisis exclude a founder effect and support a common mutation causing mechanism. ( 9598719 )
1998
24
Molecular genetic identification of families with juvenile nephronophthisis type 1: rate of progression to renal failure. APN Study Group. Arbeitsgemeinschaft für Pädiatrische Nephrologie. ( 8995741 )
1997
25
Sonographic appearance of the juvenile nephronophthisis-cystic renal medulla complex. ( 9075164 )
1997
26
Juvenile nephronophthisis-medullary cystic disease complex: a family study. ( 9151464 )
1997
27
A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis. ( 9361039 )
1997
28
Ultrasound findings in juvenile nephronophthisis. ( 8611349 )
1996
29
Thin-section computed tomography scans detect medullary cysts in patients believed to have juvenile nephronophthisis. ( 8659496 )
1996
30
Physical mapping of the gene for juvenile nephronophthisis (NPH1) by construction of a complete YAC contig of 7 Mb on chromosome 2q13. ( 8697815 )
1996
31
Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis. ( 8852662 )
1996
32
Mechanism underlying early anaemia in children with familial juvenile nephronophthisis. ( 8897559 )
1996
33
Toward the identification of a gene for familial juvenile nephronophthisis (autosomal recessive medullary cystic kidney disease). ( 7572421 )
1995
34
Refined genetic mapping of a gene for familial juvenile nephronophthisis (NPH1) and physical mapping of linked markers. APN Study Group. ( 7789968 )
1995
35
A 11 Mb YAC-based contig spanning the familial juvenile nephronophthisis region (NPH1) located on chromosome 2q. ( 8825638 )
1995
36
Refined mapping of a gene (NPH1) causing familial juvenile nephronophthisis and evidence for genetic heterogeneity. ( 7806215 )
1994
37
Clinical quiz. Familial juvenile nephronophthisis. ( 7947053 )
1994
38
A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p. ( 7981755 )
1993
39
Radiological cases of the month. Juvenile nephronophthisis. ( 8213686 )
1993
40
Mapping of a gene for familial juvenile nephronophthisis: refining the map and defining flanking markers on chromosome 2. APN Study Group. ( 8250041 )
1993
41
Familial juvenile nephronophthisis and renal transplantation in two siblings. ( 1479732 )
1992
42
Severe tubular resistance to aldosterone in a child with familial juvenile nephronophthisis. ( 1536742 )
1992
43
Familial juvenile nephronophthisis in two siblings--histological findings at an early stage. ( 1792907 )
1991
44
Juvenile nephronophthisis diagnosed from glucosuria detected by urine screening at school. ( 2284933 )
1990
45
Rate of deterioration of renal function in juvenile nephronophthisis. ( 2702089 )
1989
46
Juvenile nephronophthisis associated with new skeletal abnormalities, tapetoretinal degeneration and liver fibrosis. ( 2745140 )
1989
47
Leber's congenital amaurosis with marbelized fundus and juvenile nephronophthisis. ( 2929712 )
1989
48
Atypical macular coloboma (dysplasia) associated with familial juvenile nephronophthisis and skeletal abnormality. ( 3231430 )
1988
49
Juvenile nephronophthisis with calcification of basal ganglia and pancreatic insufficiency. ( 3377663 )
1988
50
Familial juvenile nephronophthisis. A review and differential diagnosis. ( 3510794 )
1986

Variations for Juvenile Nephronophthisis

Expression for Juvenile Nephronophthisis

Search GEO for disease gene expression data for Juvenile Nephronophthisis.

Pathways for Juvenile Nephronophthisis

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.75 IQCB1 NPHP1 NPHP3 NPHP4 WDR19

GO Terms for Juvenile Nephronophthisis

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

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.8 INVS IQCB1 MAPKBP1 NPHP1 NPHP4 WDR19
2 cell projection GO:0042995 9.73 ANKS6 INVS NPHP1 NPHP3 NPHP4 WDR19
3 photoreceptor outer segment GO:0001750 9.37 IQCB1 WDR19
4 non-motile cilium GO:0097730 9.33 GLIS2 NPHP4 WDR19
5 photoreceptor connecting cilium GO:0032391 9.26 IQCB1 NPHP1 NPHP4 WDR19
6 cilium GO:0005929 9.1 ANKS6 INVS NPHP1 NPHP3 NPHP4 WDR19
7 cytoplasm GO:0005737 10.01 ANKS6 GLIS2 INVS IQCB1 MAPKBP1 NPHP1

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

# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.61 IQCB1 NPHP3 WDR19
2 cell projection organization GO:0030030 9.58 IQCB1 NPHP1 WDR19
3 negative regulation of canonical Wnt signaling pathway GO:0090090 9.54 INVS NPHP3 NPHP4
4 ciliary basal body-plasma membrane docking GO:0097711 9.5 IQCB1 NPHP1 NPHP4
5 retina development in camera-type eye GO:0060041 9.46 NPHP1 NPHP4
6 maintenance of animal organ identity GO:0048496 9.26 IQCB1 NPHP3
7 visual behavior GO:0007632 9.16 NPHP1 NPHP4
8 positive regulation of bicellular tight junction assembly GO:1903348 8.96 NPHP1 NPHP4
9 photoreceptor cell maintenance GO:0045494 8.8 IQCB1 NPHP3 NPHP4

Sources for Juvenile Nephronophthisis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
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43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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