NPHP2
MCID: NPH030
MIFTS: 41

Nephronophthisis 2 (NPHP2)

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

Aliases & Classifications for Nephronophthisis 2

MalaCards integrated aliases for Nephronophthisis 2:

Name: Nephronophthisis 2 57 12 75 15 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 juvenile nephronophthisis. An important gene associated with Nephronophthisis 2 is INVS (Inversin), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. The drugs Insulin Aspart and Benzoyl peroxide have been mentioned in the context of this disorder. Affiliated tissues include kidney and liver, 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 36)
# Related Disease Score Top Affiliating Genes
1 infantile nephronophthisis 31.2 INVS NEK8 NPHP3 NPHP4
2 juvenile nephronophthisis 31.1 INVS IQCB1 NPHP1 NPHP3 NPHP4
3 nephronophthisis 30.7 INVS IQCB1 MKS1 NEK8 NEK9 NPHP1
4 joubert syndrome 1 29.2 INVS IQCB1 MKS1 NPHP1 NPHP3 NPHP4
5 nephronophthisis 13 10.1 INVS NPHP1
6 nephrotic syndrome 10.1
7 nephronophthisis 19 10.1 NPHP1 NPHP4
8 nephronophthisis 3 10.1 NPHP1 NPHP3
9 meckel syndrome, type 7 10.1 MKS1 NPHP3
10 nephronophthisis 7 10.1 INVS NPHP1
11 nephronophthisis 4 10.1 NPHP1 NPHP4
12 joubert syndrome 6 10.1 MKS1 NPHP1
13 meckel syndrome, type 3 10.0 MKS1 NPHP1
14 visceral heterotaxy 10.0 INVS NPHP1 NPHP3
15 renal fibrosis 10.0
16 situs inversus 10.0
17 cogan syndrome 10.0 NPHP1 NPHP3 NPHP4
18 alacrima, achalasia, and mental retardation syndrome 10.0
19 bardet-biedl syndrome 13 10.0 MKS1 NPHP3
20 polycystic liver disease 1 with or without kidney cysts 10.0 NPHP1 NPHP4
21 nephronophthisis 16 9.9 IQCB1 NPHP1
22 chronic kidney failure 9.9 INVS MKS1 NPHP1
23 nephronophthisis 1 9.9 INVS NPHP1 NPHP3 NPHP4
24 retinal aplasia 9.9 IQCB1 NPHP1 NPHP4
25 apraxia 9.9 NPHP1 NPHP4
26 meckel syndrome, type 6 9.8 INVS MKS1 NPHP1 NPHP4
27 bardet-biedl syndrome 9.8 INVS MKS1 NPHP1 NPHP4
28 nephronophthisis 11 9.8 IQCB1 NPHP1 NPHP3 NPHP4
29 leber congenital amaurosis 9.8 IQCB1 NPHP1 NPHP3 NPHP4
30 renal-hepatic-pancreatic dysplasia 9.6 INVS IQCB1 NEK8 NPHP3
31 retinitis pigmentosa 9.6 INVS IQCB1 NPHP1 NPHP3 NPHP4
32 meckel syndrome, type 1 9.6 INVS IQCB1 MKS1 NPHP1 NPHP4
33 nephronophthisis 9 9.4 INVS NEK8 NEK9 NPHP1 NPHP3 NPHP4
34 cystic kidney disease 9.4 INVS NEK8 NEK9 NPHP1 NPHP3 NPHP4
35 senior-loken syndrome 1 9.3 INVS IQCB1 MKS1 NEK9 NPHP1 NPHP3
36 nephronophthisis 18 9.2 INVS IQCB1 NEK8 NEK9 NPHP1 NPHP3

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 pulmonary hypoplasia 32 HP:0002089
10 hyperkalemia 32 HP:0002153
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 renal/urinary system MP:0005367 9.17 HAL INVS MKS1 NEK8 NPHP1 NPHP3

Drugs & Therapeutics for Nephronophthisis 2

Drugs for Nephronophthisis 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Insulin Aspart Approved Not Applicable 116094-23-6 16132418
2
Benzoyl peroxide Approved Not Applicable 94-36-0 7187
3
Insulin Glargine Approved Not Applicable 160337-95-1
4
Zinc Approved, Investigational Not Applicable 7440-66-6
5 Isophane insulin, beef Not Applicable
6 Protamines Not Applicable
7 Isophane Insulin, Human Not Applicable
8 insulin Not Applicable
9 Insulin, Isophane Not Applicable
10 Insulin, Globin Zinc Not Applicable
11 Hypoglycemic Agents Not Applicable

Interventional clinical trials:


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

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, Liver

Publications for Nephronophthisis 2

Articles related to Nephronophthisis 2:

(show all 12)
# Title Authors Year
1
Transplantation for infantile nephronophthisis with loss-of-function mutation in NPHP3: Lesson from a case. ( 29869359 )
2018
2
Tubular cell loss in early inv/nphp2 mutant kidneys represents a possible homeostatic mechanism in cortical tubular formation. ( 29889867 )
2018
3
A familial case of severe infantile nephronophthisis explained by oligogenic inheritance. ( 28392475 )
2017
4
Structural basis of the Inv compartment and ciliary abnormalities in Inv/nphp2 mutant mice. ( 26615802 )
2016
5
A high mutation rate of NPHP3 in 18 Chinese infantile nephronophthisis patients. ( 26184788 )
2015
6
Mutations of CEP83 cause infantile nephronophthisis and intellectual disability. ( 24882706 )
2014
7
Inhibition of the p38 MAPK pathway ameliorates renal fibrosis in an NPHP2 mouse model. ( 22076433 )
2012
8
The ciliary protein Nek8/Nphp9 acts downstream of Inv/Nphp2 during pronephros morphogenesis and left-right establishment in zebrafish. ( 22687244 )
2012
9
Mutations of NPHP2 and NPHP3 in infantile nephronophthisis. ( 19177160 )
2009
10
Renal cysts of inv/inv mice resemble early infantile nephronophthisis. ( 15213262 )
2004
11
A Bedouin kindred with infantile nephronophthisis demonstrates linkage to chromosome 9 by homozygosity mapping. ( 9792867 )
1998
12
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 22)
# 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.1235-5T> C single nucleotide variant Benign rs2245216 GRCh37 Chromosome 9, 103015184: 103015184
11 INVS NM_014425.4(INVS): c.1235-5T> C single nucleotide variant Benign rs2245216 GRCh38 Chromosome 9, 100252902: 100252902
12 INVS NM_014425.4(INVS): c.2412T> C (p.Ser804=) single nucleotide variant Benign rs2787374 GRCh37 Chromosome 9, 103054951: 103054951
13 INVS NM_014425.4(INVS): c.2412T> C (p.Ser804=) single nucleotide variant Benign rs2787374 GRCh38 Chromosome 9, 100292669: 100292669
14 INVS NM_014425.4(INVS): c.2509C> T (p.Gln837Ter) single nucleotide variant Pathogenic rs755549444 GRCh37 Chromosome 9, 103055048: 103055048
15 INVS NM_014425.4(INVS): c.2509C> T (p.Gln837Ter) single nucleotide variant Pathogenic rs755549444 GRCh38 Chromosome 9, 100292766: 100292766
16 INVS NM_014425.4(INVS): c.2310C> T (p.His770=) single nucleotide variant Conflicting interpretations of pathogenicity rs116606949 GRCh37 Chromosome 9, 103054849: 103054849
17 INVS NM_014425.4(INVS): c.2310C> T (p.His770=) single nucleotide variant Conflicting interpretations of pathogenicity rs116606949 GRCh38 Chromosome 9, 100292567: 100292567
18 INVS NM_014425.4(INVS): c.3017-5T> G single nucleotide variant Benign/Likely benign rs201018893 GRCh37 Chromosome 9, 103060213: 103060213
19 INVS NM_014425.4(INVS): c.3017-5T> G single nucleotide variant Benign/Likely benign rs201018893 GRCh38 Chromosome 9, 100297931: 100297931
20 INVS NM_014425.4(INVS): c.662dupG (p.Arg222Serfs) duplication Pathogenic rs886042844 GRCh37 Chromosome 9, 103002388: 103002388
21 INVS NM_014425.4(INVS): c.662dupG (p.Arg222Serfs) duplication Pathogenic rs886042844 GRCh38 Chromosome 9, 100240106: 100240106
22 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

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 9.73 INVS IQCB1 MKS1 NEK8 NPHP1 NPHP4
2 microtubule organizing center GO:0005815 9.65 IQCB1 MKS1 NPHP4
3 centrosome GO:0005813 9.62 IQCB1 MKS1 NEK9 NPHP4
4 cell projection GO:0042995 9.43 INVS MKS1 NEK8 NPHP1 NPHP3 NPHP4
5 ciliary base GO:0097546 9.4 NEK8 NPHP4
6 ciliary transition zone GO:0035869 9.37 MKS1 NPHP4
7 photoreceptor connecting cilium GO:0032391 9.33 IQCB1 NPHP1 NPHP4
8 cilium GO:0005929 9.1 INVS MKS1 NEK8 NPHP1 NPHP3 NPHP4
9 cytoplasm GO:0005737 10.03 HAL INVS IQCB1 MKS1 NEK8 NEK9
10 cytosol GO:0005829 10 HAL IQCB1 MKS1 NEK9 NPHP1 NPHP3

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.65 IQCB1 MKS1 NPHP3
2 cell projection organization GO:0030030 9.63 IQCB1 MKS1 NPHP1
3 negative regulation of canonical Wnt signaling pathway GO:0090090 9.61 INVS NPHP3 NPHP4
4 determination of left/right symmetry GO:0007368 9.58 MKS1 NEK8 NPHP3
5 retina development in camera-type eye GO:0060041 9.49 NPHP1 NPHP4
6 maintenance of animal organ identity GO:0048496 9.37 IQCB1 NPHP3
7 regulation of Wnt signaling pathway, planar cell polarity pathway GO:2000095 9.32 MKS1 NPHP3
8 visual behavior GO:0007632 9.26 NPHP1 NPHP4
9 positive regulation of bicellular tight junction assembly GO:1903348 9.16 NPHP1 NPHP4
10 photoreceptor cell maintenance GO:0045494 9.13 IQCB1 NPHP3 NPHP4
11 ciliary basal body-plasma membrane docking GO:0097711 8.92 IQCB1 MKS1 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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