MCID: NPH031
MIFTS: 31

Nephronophthisis 3

Categories: Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Nephronophthisis 3

MalaCards integrated aliases for Nephronophthisis 3:

Name: Nephronophthisis 3 57 12 75 13 73
Adolescent Nephronophthisis 75 29 6
Nphp3 57 12 75
Nph3 57 12
Nephronophthisis, Type 3 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
nephronophthisis 3:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Nephronophthisis 3

UniProtKB/Swiss-Prot : 75 Nephronophthisis 3: An autosomal recessive disorder resulting in end-stage renal disease. It is characterized by polyuria, polydipsia, anemia. Onset of terminal renal failure occurr significantly later (median age, 19 years) than in juvenile nephronophthisis. Renal pathology is characterized by alterations of tubular basement membranes, tubular atrophy and dilation, sclerosing tubulointerstitial nephropathy, and renal cyst development predominantly at the corticomedullary junction.

MalaCards based summary : Nephronophthisis 3, also known as adolescent nephronophthisis, is related to nephronophthisis and meckel syndrome, type 7, and has symptoms including polyuria, polydipsia and secondary enuresis. An important gene associated with Nephronophthisis 3 is NPHP3 (Nephrocystin 3). Affiliated tissues include kidney, and related phenotypes are renal insufficiency and nephronophthisis

Disease Ontology : 12 A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the NPHP3 gene on chromosome 3q22.

Description from OMIM: 604387

Related Diseases for Nephronophthisis 3

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 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 30)
# Related Disease Score Top Affiliating Genes
1 nephronophthisis 32.1 NPHP3 NPHP3-ACAD11
2 meckel syndrome, type 7 32.0 NPHP3 NPHP3-ACAD11
3 renal-hepatic-pancreatic dysplasia 31.7 NPHP3 NPHP3-ACAD11
4 leber congenital amaurosis 30.2 NPHP3 NPHP3-ACAD11
5 cystic kidney disease 11.4
6 nephronophthisis 2 11.3
7 infantile nephronophthisis 11.3
8 renal-hepatic-pancreatic dysplasia 1 11.2
9 senior-loken syndrome 1 11.0
10 right atrial isomerism 10.9
11 nephronophthisis 1 10.9
12 retinitis pigmentosa 10.9
13 bardet-biedl syndrome 13 10.9
14 bardet-biedl syndrome 15 10.9
15 visceral heterotaxy 10.9
16 cogan syndrome 10.9
17 senior-løken syndrome 10.9
18 juvenile nephronophthisis 10.9
19 late-onset nephronophthisis 10.8
20 hepatitis 9.9
21 caroli disease, isolated 9.8
22 polydactyly 9.8
23 caroli disease 9.8
24 retinitis 9.8
25 pancreatitis 9.8
26 kidney disease 9.8
27 situs inversus 9.8
28 retinal degeneration 9.8
29 renal dysplasia diffuse cystic 9.8
30 renal dysplasia 9.8

Graphical network of the top 20 diseases related to Nephronophthisis 3:



Diseases related to Nephronophthisis 3

Symptoms & Phenotypes for Nephronophthisis 3

Symptoms via clinical synopsis from OMIM:

57
Metabolic Features:
polydipsia
polyuria

Genitourinary Kidneys:
tubular atrophy
interstitial fibrosis
corticomedullary cysts
median onset of renal failure 19 years
altered basement membrane

Genitourinary:
secondary enuresis

Abdomen Liver:
hepatic fibrosis

Laboratory Abnormalities:
no proteinuria
no hematuria


Clinical features from OMIM:

604387

Human phenotypes related to Nephronophthisis 3:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 renal insufficiency 32 HP:0000083
2 nephronophthisis 32 HP:0000090
3 tubular atrophy 32 HP:0000092
4 polyuria 32 HP:0000103
5 renal corticomedullary cysts 32 HP:0000108
6 enuresis 32 HP:0000805
7 hepatic fibrosis 32 HP:0001395
8 polydipsia 32 HP:0001959
9 tubulointerstitial fibrosis 32 HP:0005576

UMLS symptoms related to Nephronophthisis 3:


polyuria, polydipsia, secondary enuresis

Drugs & Therapeutics for Nephronophthisis 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Nephronophthisis : Clinical and Genetic Study Completed NCT01022957 Not Applicable

Search NIH Clinical Center for Nephronophthisis 3

Genetic Tests for Nephronophthisis 3

Genetic tests related to Nephronophthisis 3:

# Genetic test Affiliating Genes
1 Adolescent Nephronophthisis 29 NPHP3

Anatomical Context for Nephronophthisis 3

MalaCards organs/tissues related to Nephronophthisis 3:

41
Kidney

Publications for Nephronophthisis 3

Articles related to Nephronophthisis 3:

# Title Authors Year
1
Renal Cyclooxygenase Products are Higher and Lipoxygenase Products are Lower in Early Disease in the pcy Mouse Model of Adolescent Nephronophthisis. ( 24178445 )
2014
2
Analysis of the NPHP genes in two Japanese patients with suspected sporadic juvenile or adolescent nephronophthisis. ( 16724659 )
2006
3
Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. ( 12872122 )
2003
4
Candidate gene analysis of KIAA0678 encoding a DnaJ-like protein for adolescent nephronophthisis and Senior-LA,ken syndrome type 3. ( 12438707 )
2002
5
Human adolescent nephronophthisis: gene locus synteny with polycystic kidney disease in pcy mice. ( 11134256 )
2001
6
Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large Venezuelan pedigree. ( 10631142 )
2000

Variations for Nephronophthisis 3

UniProtKB/Swiss-Prot genetic disease variations for Nephronophthisis 3:

75
# Symbol AA change Variation ID SNP ID
1 NPHP3 p.Ser360Thr VAR_022815 rs119456960
2 NPHP3 p.Asn386Ser VAR_022816 rs142021049
3 NPHP3 p.Arg397His VAR_022817 rs755094682
4 NPHP3 p.Leu1141Pro VAR_022818
5 NPHP3 p.Ala1221Val VAR_022819 rs202048210
6 NPHP3 p.Ser1252Arg VAR_022820 rs143451766
7 NPHP3 p.Ser1314Thr VAR_022821 rs75316802

ClinVar genetic disease variations for Nephronophthisis 3:

6
(show all 32)
# Gene Variation Type Significance SNP ID Assembly Location
1 NPHP3 NM_153240.4(NPHP3): c.3824_3826delGAG (p.Gly1275del) deletion Pathogenic rs119456959 GRCh37 Chromosome 3, 132400921: 132400923
2 NPHP3 NM_153240.4(NPHP3): c.3824_3826delGAG (p.Gly1275del) deletion Pathogenic rs119456959 GRCh38 Chromosome 3, 132682077: 132682079
3 NPHP3 NM_153240.4(NPHP3): c.1079G> C (p.Ser360Thr) single nucleotide variant Pathogenic rs119456960 GRCh37 Chromosome 3, 132432009: 132432009
4 NPHP3 NM_153240.4(NPHP3): c.1079G> C (p.Ser360Thr) single nucleotide variant Pathogenic rs119456960 GRCh38 Chromosome 3, 132713165: 132713165
5 NPHP3 NM_153240.4(NPHP3): c.1381G> T (p.Glu461Ter) single nucleotide variant Pathogenic rs119456961 GRCh37 Chromosome 3, 132423185: 132423185
6 NPHP3 NM_153240.4(NPHP3): c.1381G> T (p.Glu461Ter) single nucleotide variant Pathogenic rs119456961 GRCh38 Chromosome 3, 132704341: 132704341
7 NPHP3 NM_153240.4(NPHP3): c.1729C> T (p.Arg577Ter) single nucleotide variant Pathogenic rs119456962 GRCh37 Chromosome 3, 132419192: 132419192
8 NPHP3 NM_153240.4(NPHP3): c.1729C> T (p.Arg577Ter) single nucleotide variant Pathogenic rs119456962 GRCh38 Chromosome 3, 132700348: 132700348
9 NPHP3 NM_153240.4(NPHP3): c.2104C> T (p.Arg702Ter) single nucleotide variant Pathogenic rs267606916 GRCh37 Chromosome 3, 132415642: 132415642
10 NPHP3 NM_153240.4(NPHP3): c.2104C> T (p.Arg702Ter) single nucleotide variant Pathogenic rs267606916 GRCh38 Chromosome 3, 132696798: 132696798
11 NPHP3 NM_153240.4(NPHP3): c.2369T> C (p.Leu790Pro) single nucleotide variant Likely pathogenic rs398124546 GRCh37 Chromosome 3, 132411604: 132411604
12 NPHP3 NM_153240.4(NPHP3): c.2369T> C (p.Leu790Pro) single nucleotide variant Likely pathogenic rs398124546 GRCh38 Chromosome 3, 132692760: 132692760
13 NPHP3 NM_153240.4(NPHP3): c.3373C> T (p.Arg1125Ter) single nucleotide variant Pathogenic rs368138001 GRCh37 Chromosome 3, 132403595: 132403595
14 NPHP3 NM_153240.4(NPHP3): c.3373C> T (p.Arg1125Ter) single nucleotide variant Pathogenic rs368138001 GRCh38 Chromosome 3, 132684751: 132684751
15 NPHP3 NM_153240.4(NPHP3): c.273delC (p.Tyr91Terfs) deletion Pathogenic rs758558609 GRCh37 Chromosome 3, 132440927: 132440927
16 NPHP3 NM_153240.4(NPHP3): c.273delC (p.Tyr91Terfs) deletion Pathogenic rs758558609 GRCh38 Chromosome 3, 132722083: 132722083
17 NPHP3 NM_153240.4(NPHP3): c.434_437delAAAG (p.Glu145Valfs) deletion Pathogenic rs763300393 GRCh37 Chromosome 3, 132438631: 132438634
18 NPHP3 NM_153240.4(NPHP3): c.434_437delAAAG (p.Glu145Valfs) deletion Pathogenic rs763300393 GRCh38 Chromosome 3, 132719787: 132719790
19 NPHP3 NM_153240.4(NPHP3): c.2994G> A (p.Trp998Ter) single nucleotide variant Pathogenic rs794727349 GRCh37 Chromosome 3, 132407625: 132407625
20 NPHP3 NM_153240.4(NPHP3): c.2994G> A (p.Trp998Ter) single nucleotide variant Pathogenic rs794727349 GRCh38 Chromosome 3, 132688781: 132688781
21 NPHP3 NM_153240.4(NPHP3): c.2694-2_2694-1delAG deletion Pathogenic rs751527253 GRCh38 Chromosome 3, 132689264: 132689265
22 NPHP3 NM_153240.4(NPHP3): c.2694-2_2694-1delAG deletion Pathogenic rs751527253 GRCh37 Chromosome 3, 132408108: 132408109
23 NPHP3 NM_153240.4(NPHP3): c.3608delC (p.Ala1203Valfs) deletion Pathogenic rs1060499938 GRCh38 Chromosome 3, 132683487: 132683487
24 NPHP3 NM_153240.4(NPHP3): c.3608delC (p.Ala1203Valfs) deletion Pathogenic rs1060499938 GRCh37 Chromosome 3, 132402331: 132402331
25 NPHP3 NM_153240.4(NPHP3): c.2108A> C (p.His703Pro) single nucleotide variant no interpretation for the single variant rs1131692178 GRCh38 Chromosome 3, 132696794: 132696794
26 NPHP3 NM_153240.4(NPHP3): c.2108A> C (p.His703Pro) single nucleotide variant no interpretation for the single variant rs1131692178 GRCh37 Chromosome 3, 132415638: 132415638
27 NPHP3 NM_153240.4(NPHP3): c.424C> T (p.Arg142Ter) single nucleotide variant Pathogenic rs771742823 GRCh38 Chromosome 3, 132719800: 132719800
28 NPHP3 NM_153240.4(NPHP3): c.424C> T (p.Arg142Ter) single nucleotide variant Pathogenic rs771742823 GRCh37 Chromosome 3, 132438644: 132438644
29 NPHP3 NM_153240.4(NPHP3): c.2311-2A> G single nucleotide variant Pathogenic GRCh37 Chromosome 3, 132411664: 132411664
30 NPHP3 NM_153240.4(NPHP3): c.2311-2A> G single nucleotide variant Pathogenic GRCh38 Chromosome 3, 132692820: 132692820
31 NPHP3 NM_153240.4(NPHP3): c.3570+2T> A single nucleotide variant Pathogenic GRCh37 Chromosome 3, 132403396: 132403396
32 NPHP3 NM_153240.4(NPHP3): c.3570+2T> A single nucleotide variant Pathogenic GRCh38 Chromosome 3, 132684552: 132684552

Expression for Nephronophthisis 3

Search GEO for disease gene expression data for Nephronophthisis 3.

Pathways for Nephronophthisis 3

GO Terms for Nephronophthisis 3

Sources for Nephronophthisis 3

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