MCID: NPH030
MIFTS: 41

Nephronophthisis 2

Categories: Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Nephronophthisis 2

MalaCards integrated aliases for Nephronophthisis 2:

Name: Nephronophthisis 2 57 12 75 73
Nphp2 57 12 75 55
Nephronophthisis 2, Infantile 57 13
Nph2 57 12
Infantile Nephronophthisis 2 12
Infantile Nephronophthisis 75
Nephronophthisis, Type 2 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
neonatal death secondary to pulmonary insufficiency


HPO:

32
nephronophthisis 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Nephronophthisis 2

UniProtKB/Swiss-Prot : 75 Nephronophthisis 2: An autosomal recessive disorder resulting in end-stage renal disease. It is characterized by early onset and rapid progression. Phenotypic manifestations include enlarged kidneys, chronic tubulo-interstitial nephritis, anemia, hyperkalemic metabolic acidosis. Some patients also display situs inversus. Pathologically, it differs from later-onset nephronophthisis by the absence of medullary cysts and thickened tubular basement membranes, and by the presence of cortical microcysts.

MalaCards based summary : Nephronophthisis 2, also known as nphp2, is related to infantile nephronophthisis and nephronophthisis. An important gene associated with Nephronophthisis 2 is INVS (Inversin), and among its related pathways/superpathways is Organelle biogenesis and maintenance. Affiliated tissues include kidney, and related phenotypes are hypertension and respiratory insufficiency

Disease Ontology : 12 A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the INVS gene on chromosome 9q31.

Description from OMIM: 602088

Related Diseases for Nephronophthisis 2

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

(show all 24)
# Related Disease Score Top Affiliating Genes
1 infantile nephronophthisis 30.4 INVS NPHP3 NPHP4
2 nephronophthisis 29.5 INVS NPHP1 NPHP3 NPHP4
3 joubert syndrome 1 28.4 INVS NPHP1 NPHP4
4 nephrotic syndrome 10.0
5 senior-løken syndrome 9.9 NPHP3 NPHP4
6 situs inversus 9.9
7 bardet-biedl syndrome 13 9.7 INVS NPHP3
8 renal-hepatic-pancreatic dysplasia 9.7 INVS NPHP3
9 nephronophthisis 4 9.6 NPHP1 NPHP4
10 hyperuricemic nephropathy, familial juvenile, 1 9.6 NPHP1 NPHP4
11 retinal aplasia 9.6 NPHP1 NPHP4
12 polycystic liver disease 1 with or without kidney cysts 9.3 NPHP1 NPHP4
13 renal fibrosis 9.2 NPHP1 NPHP4
14 meckel syndrome, type 1 9.1 INVS NPHP1 NPHP4
15 chronic kidney failure 9.0 INVS NPHP1
16 visceral heterotaxy 9.0 INVS NPHP1 NPHP3
17 bardet-biedl syndrome 8.9 INVS NPHP1 NPHP4
18 leber congenital amaurosis 8.8 NPHP1 NPHP3 NPHP4
19 juvenile nephronophthisis 8.4 INVS NPHP1 NPHP3 NPHP4
20 nephronophthisis 1 8.4 INVS NPHP1 NPHP3 NPHP4
21 cogan syndrome 8.4 INVS NPHP1 NPHP3 NPHP4
22 senior-loken syndrome 1 8.4 INVS NPHP1 NPHP3 NPHP4
23 cystic kidney disease 8.4 INVS NPHP1 NPHP3 NPHP4
24 retinitis pigmentosa 8.3 INVS NPHP1 NPHP3 NPHP4

Graphical network of the top 20 diseases related to Nephronophthisis 2:



Diseases related to Nephronophthisis 2

Symptoms & Phenotypes for Nephronophthisis 2

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Vascular:
hypertension

Laboratory Abnormalities:
elevated serum creatinine
hyperkalemia

Metabolic Features:
hyperkalemic metabolic acidosis

Abdomen:
situs inversus (in some patients)

Respiratory Lung:
respiratory failure
pulmonary hypoplasia

Prenatal Manifestations Amniotic Fluid:
oligohydramnios

Genitourinary Kidneys:
cortical microcysts
renal failure by age 3
enlarged, hyperechogenic kidneys (ultrasound)
chronic tubulointerstitial nephritis
absence of corticomedullary differentiation (ultrasound)
more

Clinical features from OMIM:

602088

Human phenotypes related to Nephronophthisis 2:

32 (show all 17)
# Description HPO Frequency HPO Source Accession
1 hypertension 32 HP:0000822
2 respiratory insufficiency 32 HP:0002093
3 respiratory failure 32 HP:0002878
4 elevated serum creatinine 32 HP:0003259
5 oligohydramnios 32 HP:0001562
6 nephronophthisis 32 HP:0000090
7 situs inversus totalis 32 occasional (7.5%) HP:0001696
8 enlarged kidney 32 HP:0000105
9 hyperkalemia 32 HP:0002153
10 pulmonary hypoplasia 32 HP:0002089
11 stage 5 chronic kidney disease 32 HP:0003774
12 pulmonary insufficiency 32 HP:0010444
13 hyperechogenic kidneys 32 HP:0004719
14 hyperkalemic metabolic acidosis 32 HP:0005976
15 renal cortical microcysts 32 HP:0004734
16 chronic tubulointerstitial nephritis 32 HP:0004743
17 absence of renal corticomedullary differentiation 32 HP:0005564

MGI Mouse Phenotypes related to Nephronophthisis 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.26 INVS NPHP1 NPHP3 NPHP4
2 renal/urinary system MP:0005367 8.92 NPHP1 NPHP3 NPHP4 INVS

Drugs & Therapeutics for Nephronophthisis 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Urinary Aquaporin 2 and Expression of the NPHS2 Gene in Adults Suffering From Nephrotic Syndrome Completed NCT00286910
2 Nephronophthisis : Clinical and Genetic Study Completed NCT01022957 Not Applicable
3 Study of The Association of Mutations in The NPHS2 Gene and Nephrotic Syndrome in Children and Adults in Middle East Recruiting NCT03326037
4 Cardiomyopathy in Steroid-resistant Nephrotic Syndrome: Impact of Focal Segmental Glomerulosclerosis Terminated NCT00883636
5 The Inova Type 2 Diabetes Mellitus Study Withdrawn NCT02222623 Not Applicable Glargine;NPH

Search NIH Clinical Center for Nephronophthisis 2

Genetic Tests for Nephronophthisis 2

Anatomical Context for Nephronophthisis 2

MalaCards organs/tissues related to Nephronophthisis 2:

41
Kidney

Publications for Nephronophthisis 2

Articles related to Nephronophthisis 2:

# Title Authors Year
1
Transplantation for infantile nephronophthisis with loss-of-function mutation in NPHP3: Lesson from a case. ( 29869359 )
2018
2
A familial case of severe infantile nephronophthisis explained by oligogenic inheritance. ( 28392475 )
2017
3
A high mutation rate of NPHP3 in 18 Chinese infantile nephronophthisis patients. ( 26184788 )
2015
4
Mutations of CEP83 cause infantile nephronophthisis and intellectual disability. ( 24882706 )
2014
5
Mutations of NPHP2 and NPHP3 in infantile nephronophthisis. ( 19177160 )
2009
6
Renal cysts of inv/inv mice resemble early infantile nephronophthisis. ( 15213262 )
2004
7
A Bedouin kindred with infantile nephronophthisis demonstrates linkage to chromosome 9 by homozygosity mapping. ( 9792867 )
1998
8
Infantile nephronophthisis. ( 3449470 )
1987

Variations for Nephronophthisis 2

UniProtKB/Swiss-Prot genetic disease variations for Nephronophthisis 2:

75
# Symbol AA change Variation ID SNP ID
1 INVS p.Pro482Arg VAR_022822
2 INVS p.Leu493Ser VAR_022823 rs121964995

ClinVar genetic disease variations for Nephronophthisis 2:

6
(show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 INVS NM_014425.4(INVS): c.1807C> T (p.Arg603Ter) single nucleotide variant Pathogenic rs121964994 GRCh37 Chromosome 9, 103046624: 103046624
2 INVS NM_014425.4(INVS): c.1807C> T (p.Arg603Ter) single nucleotide variant Pathogenic rs121964994 GRCh38 Chromosome 9, 100284342: 100284342
3 INVS NM_014425.4(INVS): c.1478T> C (p.Leu493Ser) single nucleotide variant Pathogenic rs121964995 GRCh37 Chromosome 9, 103027117: 103027117
4 INVS NM_014425.4(INVS): c.1478T> C (p.Leu493Ser) single nucleotide variant Pathogenic rs121964995 GRCh38 Chromosome 9, 100264835: 100264835
5 INVS NM_014425.4(INVS): c.2719C> T (p.Arg907Ter) single nucleotide variant Pathogenic rs267607185 GRCh37 Chromosome 9, 103055258: 103055258
6 INVS NM_014425.4(INVS): c.2719C> T (p.Arg907Ter) single nucleotide variant Pathogenic rs267607185 GRCh38 Chromosome 9, 100292976: 100292976
7 INVS NM_014425.4(INVS): c.2695C> T (p.Arg899Ter) single nucleotide variant Pathogenic rs200844390 GRCh37 Chromosome 9, 103055234: 103055234
8 INVS NM_014425.4(INVS): c.2695C> T (p.Arg899Ter) single nucleotide variant Pathogenic rs200844390 GRCh38 Chromosome 9, 100292952: 100292952
9 INVS INVS, 1-BP DEL, 1453C deletion Pathogenic
10 INVS NM_014425.4(INVS): c.2509C> T (p.Gln837Ter) single nucleotide variant Pathogenic rs755549444 GRCh37 Chromosome 9, 103055048: 103055048
11 INVS NM_014425.4(INVS): c.2509C> T (p.Gln837Ter) single nucleotide variant Pathogenic rs755549444 GRCh38 Chromosome 9, 100292766: 100292766
12 INVS NM_014425.4(INVS): c.2310C> T (p.His770=) single nucleotide variant Conflicting interpretations of pathogenicity rs116606949 GRCh37 Chromosome 9, 103054849: 103054849
13 INVS NM_014425.4(INVS): c.2310C> T (p.His770=) single nucleotide variant Conflicting interpretations of pathogenicity rs116606949 GRCh38 Chromosome 9, 100292567: 100292567
14 INVS NM_014425.4(INVS): c.3017-5T> G single nucleotide variant Benign/Likely benign rs201018893 GRCh37 Chromosome 9, 103060213: 103060213
15 INVS NM_014425.4(INVS): c.3017-5T> G single nucleotide variant Benign/Likely benign rs201018893 GRCh38 Chromosome 9, 100297931: 100297931
16 INVS NM_014425.4(INVS): c.662dupG (p.Arg222Serfs) duplication Pathogenic rs886042844 GRCh37 Chromosome 9, 103002388: 103002388
17 INVS NM_014425.4(INVS): c.662dupG (p.Arg222Serfs) duplication Pathogenic rs886042844 GRCh38 Chromosome 9, 100240106: 100240106
18 INVS NC_000009.11 deletion Likely pathogenic GRCh37 Chromosome 9, 102814578: 102968415

Expression for Nephronophthisis 2

Search GEO for disease gene expression data for Nephronophthisis 2.

Pathways for Nephronophthisis 2

Pathways related to Nephronophthisis 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.53 NPHP1 NPHP3 NPHP4

GO Terms for Nephronophthisis 2

Cellular components related to Nephronophthisis 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.54 INVS NPHP1 NPHP4
2 cell-cell junction GO:0005911 9.32 NPHP1 NPHP4
3 bicellular tight junction GO:0005923 9.26 NPHP1 NPHP4
4 cell projection GO:0042995 9.26 INVS NPHP1 NPHP3 NPHP4
5 photoreceptor connecting cilium GO:0032391 9.16 NPHP1 NPHP4
6 cilium GO:0005929 8.92 INVS NPHP1 NPHP3 NPHP4

Biological processes related to Nephronophthisis 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Wnt signaling pathway GO:0016055 9.46 INVS NPHP3
2 actin cytoskeleton organization GO:0030036 9.43 NPHP1 NPHP4
3 cell-cell adhesion GO:0098609 9.4 NPHP1 NPHP4
4 ciliary basal body-plasma membrane docking GO:0097711 9.37 NPHP1 NPHP4
5 negative regulation of canonical Wnt signaling pathway GO:0090090 9.33 INVS NPHP3 NPHP4
6 retina development in camera-type eye GO:0060041 9.32 NPHP1 NPHP4
7 photoreceptor cell maintenance GO:0045494 9.26 NPHP3 NPHP4
8 visual behavior GO:0007632 8.96 NPHP1 NPHP4
9 positive regulation of bicellular tight junction assembly GO:1903348 8.62 NPHP1 NPHP4

Molecular functions related to Nephronophthisis 2 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 2

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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