MCID: INF147
MIFTS: 32

Infantile Nephronophthisis

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

Aliases & Classifications for Infantile Nephronophthisis

MalaCards integrated aliases for Infantile Nephronophthisis:

Name: Infantile Nephronophthisis 58 29 6
Autosomal Recessive Infantile Nephronophthisis 58
Autosomal Recessive Infantile Nphp 58
Nephronophthisis 2 70

Classifications:

Orphanet: 58  
Rare renal diseases


External Ids:

ICD10 via Orphanet 33 Q61.5
Orphanet 58 ORPHA93591
UMLS 70 C1865872

Summaries for Infantile Nephronophthisis

MalaCards based summary : Infantile Nephronophthisis, also known as autosomal recessive infantile nephronophthisis, is related to nephronophthisis 3 and juvenile nephronophthisis. An important gene associated with Infantile Nephronophthisis is INVS (Inversin), and among its related pathways/superpathways is Organelle biogenesis and maintenance. Affiliated tissues include kidney and liver, and related phenotypes are cardiovascular system and embryo

Related Diseases for Infantile 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 Infantile Nephronophthisis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 70)
# Related Disease Score Top Affiliating Genes
1 nephronophthisis 3 30.4 NPHP3-ACAD11 NPHP3
2 juvenile nephronophthisis 30.1 TTC21B-AS1 TTC21B NPHP4 NPHP3-ACAD11 NPHP3 INVS
3 nephronophthisis 2 30.0 TTC21B-AS1 TTC21B NPHP4 NPHP3 NEK8 INVS
4 situs inversus 29.9 NPHP3 INVS
5 ciliopathy 29.8 TTC21B NPHP4
6 end stage renal disease 29.6 NPHP4 NEK8 INVS
7 nephronophthisis 18 29.6 NPHP4 NPHP3 INVS CEP83
8 cystic kidney disease 28.9 NPHP4 NPHP3 NEK8 INVS ANKS6
9 nephronophthisis 28.8 ZNF423 TTC21B-AS1 TTC21B NPHP4 NPHP3-ACAD11 NPHP3
10 nephronophthisis 15 28.5 ZNF423 NPHP4 NPHP3 NEK8 INVS CEP83
11 polycystic kidney disease 4 with or without polycystic liver disease 28.3 TTC21B NPHP4 NPHP3 NEK8 INVS ANKS6
12 polycystic kidney disease 28.3 ZNF423 NPHP3-ACAD11 NPHP3 NEK8 INVS ANKS6
13 caroli disease 10.2 NPHP3 INVS
14 renal-hepatic-pancreatic dysplasia 1 10.2 NPHP3-ACAD11 NPHP3
15 meckel syndrome, type 7 10.1 NPHP3-ACAD11 NPHP3
16 alstrom syndrome 10.1 NPHP3 INVS
17 meckel syndrome, type 4 10.1 NPHP4 NPHP3
18 congenital nephrotic syndrome finnish type 10.0 TTC21B-AS1 TTC21B
19 short-rib thoracic dysplasia 4 with or without polydactyly 10.0 TTC21B-AS1 TTC21B
20 joubert syndrome 4 10.0 TTC21B NPHP4
21 nephronophthisis 1 10.0 NPHP4 NPHP3 INVS
22 nephrotic syndrome, type 1 10.0 TTC21B-AS1 TTC21B
23 nephronophthisis 19 10.0 NPHP4 NPHP3 INVS
24 meckel syndrome, type 3 10.0 NPHP4 NPHP3 INVS
25 meckel syndrome, type 6 10.0 NPHP4 NPHP3 INVS
26 familial nephrotic syndrome 10.0 TTC21B-AS1 TTC21B
27 cranioectodermal dysplasia 9.9 TTC21B NPHP4 INVS
28 coach syndrome 1 9.9 TTC21B NPHP4 NPHP3
29 nephronophthisis 4 9.9
30 alacrima, achalasia, and mental retardation syndrome 9.9
31 proteinuria, chronic benign 9.9
32 autosomal recessive disease 9.9
33 metabolic acidosis 9.9
34 portal hypertension 9.9
35 hydrocephalus 9.9
36 liver disease 9.9
37 orofaciodigital syndrome 9.9
38 hypersplenism 9.9
39 learning disability 9.9
40 congenital hepatic fibrosis 9.9
41 interstitial nephritis 9.9 INVS ANKS6
42 coloboma of macula 9.9 TTC21B NPHP4 NPHP3
43 short-rib thoracic dysplasia 1 with or without polydactyly 9.9 TTC21B-AS1 TTC21B INVS
44 right atrial isomerism 9.9 NEK8 INVS
45 retinal aplasia 9.8 TTC21B-AS1 TTC21B NPHP4
46 joubert syndrome 3 9.8 TTC21B NPHP4 NPHP3 INVS
47 leber plus disease 9.7 TTC21B NPHP4 NPHP3 INVS
48 polycystic kidney disease 2 with or without polycystic liver disease 9.7 NPHP4 NEK8 INVS
49 arima syndrome 9.7 ZNF423 NPHP4
50 retinal degeneration 9.7 TTC21B NPHP4 NPHP3

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



Diseases related to Infantile Nephronophthisis

Symptoms & Phenotypes for Infantile Nephronophthisis

MGI Mouse Phenotypes related to Infantile Nephronophthisis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.7 ANKS6 CEP83 INVS NEK8 NPHP3 NPHP4
2 embryo MP:0005380 9.43 ANKS6 CEP83 INVS NPHP3 TTC21B ZNF423
3 renal/urinary system MP:0005367 9.02 INVS NEK8 NPHP3 NPHP4 TTC21B

Drugs & Therapeutics for Infantile Nephronophthisis

Search Clinical Trials , NIH Clinical Center for Infantile Nephronophthisis

Genetic Tests for Infantile Nephronophthisis

Genetic tests related to Infantile Nephronophthisis:

# Genetic test Affiliating Genes
1 Infantile Nephronophthisis 29 INVS

Anatomical Context for Infantile Nephronophthisis

MalaCards organs/tissues related to Infantile Nephronophthisis:

40
Kidney, Liver

Publications for Infantile Nephronophthisis

Articles related to Infantile Nephronophthisis:

(show all 22)
# Title Authors PMID Year
1
Mutations of NPHP2 and NPHP3 in infantile nephronophthisis. 6 61
19177160 2009
2
Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. 6 61
12872123 2003
3
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players. 6
33532864 2021
4
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 6
25525159 2015
5
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. 6
23559409 2013
6
Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies. 6
21866095 2011
7
A homozygous mutation in INVS causing juvenile nephronophthisis with abnormal reactivity of the Wnt/beta-catenin pathway. 6
20798123 2010
8
Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing. 6
18076122 2008
9
Infantile chronic tubulo-interstitial nephritis with cortical microcysts: variant of nephronophthisis or new disease entity? 6
2702088 1989
10
Novel splice site and nonsense variants in INVS cause infantile nephronophthisis. 61
31706999 2020
11
Transplantation for infantile nephronophthisis with loss-of-function mutation in NPHP3: Lesson from a case. 61
29869359 2018
12
Diversity of renal phenotypes in patients with WDR19 mutations: Two case reports. 61
28621010 2017
13
A familial case of severe infantile nephronophthisis explained by oligogenic inheritance. 61
28392475 2017
14
High mutation rate of NPHP3 in 18 Chinese infantile nephronophthisis patients. 61
26184788 2016
15
Mutations of CEP83 cause infantile nephronophthisis and intellectual disability. 61
24882706 2014
16
[Childhood genetic renal diseases in southern Israel]. 61
20684172 2010
17
Association of INVS (NPHP2) mutation in an adolescent exhibiting nephronophthisis (NPH) and complete situs inversus. 61
18218308 2008
18
Genetic kidney diseases in the pediatric population of southern Israel. 61
16773401 2006
19
Analysis of multiple Invs transcripts in mouse and MDCK cells. 61
15533716 2004
20
Renal cysts of inv/inv mice resemble early infantile nephronophthisis. 61
15213262 2004
21
A Bedouin kindred with infantile nephronophthisis demonstrates linkage to chromosome 9 by homozygosity mapping. 61
9792867 1998
22
Infantile nephronophthisis. 61
3449470 1987

Variations for Infantile Nephronophthisis

ClinVar genetic disease variations for Infantile Nephronophthisis:

6 (show top 50) (show all 83)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 INVS NM_014425.5(INVS):c.1807C>T (p.Arg603Ter) SNV Pathogenic 11959 rs121964994 GRCh37: 9:103046624-103046624
GRCh38: 9:100284342-100284342
2 INVS NM_014425.5(INVS):c.1478T>C (p.Leu493Ser) SNV Pathogenic 11960 rs121964995 GRCh37: 9:103027117-103027117
GRCh38: 9:100264835-100264835
3 INVS NM_014425.5(INVS):c.2719C>T (p.Arg907Ter) SNV Pathogenic 11961 rs267607185 GRCh37: 9:103055258-103055258
GRCh38: 9:100292976-100292976
4 INVS NM_014425.5(INVS):c.1453del (p.Gln485fs) Deletion Pathogenic 11963 rs753348470 GRCh37: 9:103015407-103015407
GRCh38: 9:100253125-100253125
5 TTC21B-AS1 , TTC21B NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) SNV Pathogenic 30935 rs140511594 GRCh37: 2:166797621-166797621
GRCh38: 2:165941111-165941111
6 TTC21B NM_024753.5(TTC21B):c.2758-2A>G SNV Pathogenic 30937 rs766132877 GRCh37: 2:166756392-166756392
GRCh38: 2:165899882-165899882
7 INVS NM_014425.5(INVS):c.1484G>A (p.Trp495Ter) SNV Pathogenic 974395 GRCh37: 9:103027123-103027123
GRCh38: 9:100264841-100264841
8 INVS NM_014425.5(INVS):c.3182dup (p.Asn1061fs) Duplication Pathogenic 531624 rs760013326 GRCh37: 9:103062934-103062935
GRCh38: 9:100300652-100300653
9 INVS NM_014425.5(INVS):c.1760del (p.Gln587fs) Deletion Pathogenic 1029277 GRCh37: 9:103035334-103035334
GRCh38: 9:100273052-100273052
10 INVS NM_014425.5(INVS):c.2695C>T (p.Arg899Ter) SNV Pathogenic 11962 rs200844390 GRCh37: 9:103055234-103055234
GRCh38: 9:100292952-100292952
11 INVS NM_014425.5(INVS):c.1789C>T (p.Arg597Ter) SNV Likely pathogenic 690376 rs755288504 GRCh37: 9:103046606-103046606
GRCh38: 9:100284324-100284324
12 INVS NM_014425.5(INVS):c.2949dup (p.Lys984fs) Duplication Likely pathogenic 690377 rs1588153872 GRCh37: 9:103059356-103059357
GRCh38: 9:100297074-100297075
13 overlap with 2 genes Deletion Likely pathogenic 402241 GRCh37: 9:102814578-102968415
GRCh38:
14 INVS NM_014425.5(INVS):c.875C>T (p.Pro292Leu) SNV Likely pathogenic 917944 GRCh37: 9:103004930-103004930
GRCh38: 9:100242648-100242648
15 INVS NM_014425.5(INVS):c.2310C>T (p.His770=) SNV Conflicting interpretations of pathogenicity 240911 rs116606949 GRCh37: 9:103054849-103054849
GRCh38: 9:100292567-100292567
16 INVS NM_014425.5(INVS):c.284G>A (p.Arg95His) SNV Uncertain significance 499597 rs372088206 GRCh37: 9:102988354-102988354
GRCh38: 9:100226072-100226072
17 INVS NM_014425.5(INVS):c.2386C>G (p.Gln796Glu) SNV Uncertain significance 496840 rs147731667 GRCh37: 9:103054925-103054925
GRCh38: 9:100292643-100292643
18 INVS NM_014425.5(INVS):c.2776G>A (p.Ala926Thr) SNV Uncertain significance 194408 rs374891838 GRCh37: 9:103055315-103055315
GRCh38: 9:100293033-100293033
19 INVS NM_014425.5(INVS):c.564G>A (p.Trp188Ter) SNV Uncertain significance 632529 rs1564167474 GRCh37: 9:102992058-102992058
GRCh38: 9:100229776-100229776
20 INVS NM_014425.5(INVS):c.1464+1G>A SNV Uncertain significance 632530 rs375753623 GRCh37: 9:103015419-103015419
GRCh38: 9:100253137-100253137
21 INVS NM_014425.5(INVS):c.962A>G (p.Glu321Gly) SNV Uncertain significance 638415 rs749655348 GRCh37: 9:103008953-103008953
GRCh38: 9:100246671-100246671
22 INVS NM_014425.5(INVS):c.796+4C>T SNV Uncertain significance 364223 rs371310920 GRCh37: 9:103002526-103002526
GRCh38: 9:100240244-100240244
23 INVS NM_014425.5(INVS):c.1945G>A (p.Val649Met) SNV Uncertain significance 220405 rs115042730 GRCh37: 9:103046762-103046762
GRCh38: 9:100284480-100284480
24 INVS NM_014425.5(INVS):c.*73T>A SNV Uncertain significance 364237 rs886063273 GRCh37: 9:103063029-103063029
GRCh38: 9:100300747-100300747
25 INVS NM_014425.5(INVS):c.2441C>T (p.Ala814Val) SNV Uncertain significance 364231 rs886063269 GRCh37: 9:103054980-103054980
GRCh38: 9:100292698-100292698
26 INVS NM_014425.5(INVS):c.2001C>T (p.Gly667=) SNV Uncertain significance 364229 rs536554704 GRCh37: 9:103046818-103046818
GRCh38: 9:100284536-100284536
27 INVS NM_014425.5(INVS):c.-129C>A SNV Uncertain significance 364219 rs533889420 GRCh37: 9:102861594-102861594
GRCh38: 9:100099312-100099312
28 INVS NM_014425.5(INVS):c.3056C>G (p.Ser1019Cys) SNV Uncertain significance 364235 rs886063272 GRCh37: 9:103060257-103060257
GRCh38: 9:100297975-100297975
29 INVS NM_014425.5(INVS):c.1916C>A (p.Ala639Asp) SNV Uncertain significance 364228 rs886063268 GRCh37: 9:103046733-103046733
GRCh38: 9:100284451-100284451
30 INVS NM_014425.5(INVS):c.*98A>G SNV Uncertain significance 364238 rs886063274 GRCh37: 9:103063054-103063054
GRCh38: 9:100300772-100300772
31 INVS NM_014425.5(INVS):c.2489C>T (p.Thr830Ile) SNV Uncertain significance 364232 rs886063270 GRCh37: 9:103055028-103055028
GRCh38: 9:100292746-100292746
32 INVS NM_014425.5(INVS):c.-178G>A SNV Uncertain significance 364217 rs886063263 GRCh37: 9:102861545-102861545
GRCh38: 9:100099263-100099263
33 INVS NM_014425.5(INVS):c.3099C>T (p.Asn1033=) SNV Uncertain significance 364236 rs368303175 GRCh37: 9:103062857-103062857
GRCh38: 9:100300575-100300575
34 INVS NM_014425.5(INVS):c.2874A>G (p.Thr958=) SNV Uncertain significance 364233 rs886063271 GRCh37: 9:103059286-103059286
GRCh38: 9:100297004-100297004
35 INVS NM_014425.5(INVS):c.889G>A (p.Ala297Thr) SNV Uncertain significance 364224 rs116475199 GRCh37: 9:103004944-103004944
GRCh38: 9:100242662-100242662
36 INVS NM_014425.5(INVS):c.*469A>T SNV Uncertain significance 364245 rs886063279 GRCh37: 9:103063425-103063425
GRCh38: 9:100301143-100301143
37 INVS NM_014425.5(INVS):c.775C>T (p.Leu259=) SNV Uncertain significance 364222 rs886063264 GRCh37: 9:103002501-103002501
GRCh38: 9:100240219-100240219
38 INVS NM_014425.5(INVS):c.118C>G (p.Leu40Val) SNV Uncertain significance 364221 rs148219510 GRCh37: 9:102888676-102888676
GRCh38: 9:100126394-100126394
39 INVS NM_014425.5(INVS):c.2782C>T (p.Arg928Ter) SNV Uncertain significance 242360 rs376879175 GRCh37: 9:103055321-103055321
GRCh38: 9:100293039-100293039
40 INVS NM_014425.5(INVS):c.2822A>G (p.His941Arg) SNV Uncertain significance 281735 rs886042226 GRCh37: 9:103059234-103059234
GRCh38: 9:100296952-100296952
41 INVS NM_014425.5(INVS):c.1595T>C (p.Leu532Ser) SNV Uncertain significance 933866 GRCh37: 9:103035169-103035169
GRCh38: 9:100272887-100272887
42 INVS NM_014425.5(INVS):c.67G>A (p.Val23Ile) SNV Uncertain significance 596755 rs145303373 GRCh37: 9:102866870-102866870
GRCh38: 9:100104588-100104588
43 INVS NM_014425.5(INVS):c.2278T>G (p.Ser760Ala) SNV Uncertain significance 593341 rs146901872 GRCh37: 9:103054817-103054817
GRCh38: 9:100292535-100292535
44 INVS NM_014425.5(INVS):c.2381G>A (p.Arg794His) SNV Uncertain significance 914981 GRCh37: 9:103054920-103054920
GRCh38: 9:100292638-100292638
45 INVS NM_014425.5(INVS):c.2454G>A (p.Ala818=) SNV Uncertain significance 289874 rs115937161 GRCh37: 9:103054993-103054993
GRCh38: 9:100292711-100292711
46 INVS NM_014425.5(INVS):c.*158T>C SNV Uncertain significance 915028 GRCh37: 9:103063114-103063114
GRCh38: 9:100300832-100300832
47 INVS NM_014425.5(INVS):c.*323A>T SNV Uncertain significance 915030 GRCh37: 9:103063279-103063279
GRCh38: 9:100300997-100300997
48 INVS NM_014425.5(INVS):c.*352A>T SNV Uncertain significance 915031 GRCh37: 9:103063308-103063308
GRCh38: 9:100301026-100301026
49 INVS NM_014425.5(INVS):c.*415A>G SNV Uncertain significance 915032 GRCh37: 9:103063371-103063371
GRCh38: 9:100301089-100301089
50 INVS NM_014425.5(INVS):c.*467A>T SNV Uncertain significance 915033 GRCh37: 9:103063423-103063423
GRCh38: 9:100301141-100301141

Expression for Infantile Nephronophthisis

Search GEO for disease gene expression data for Infantile Nephronophthisis.

Pathways for Infantile Nephronophthisis

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.65 TTC21B NPHP4 NPHP3 CEP83

GO Terms for Infantile Nephronophthisis

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

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.73 TTC21B NPHP4 NPHP3-ACAD11 NEK8 INVS CEP83
2 cell projection GO:0042995 9.63 TTC21B NPHP4 NPHP3 NEK8 INVS ANKS6
3 cilium GO:0005929 9.43 TTC21B NPHP4 NPHP3 NEK8 INVS ANKS6
4 ciliary base GO:0097546 9.32 NPHP4 NEK8
5 ciliary inversin compartment GO:0097543 8.8 NEK8 INVS ANKS6

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

# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.33 ZNF423 NPHP3 CEP83
2 photoreceptor cell maintenance GO:0045494 9.32 NPHP4 NPHP3
3 protein localization to cilium GO:0061512 9.26 ZNF423 TTC21B
4 negative regulation of canonical Wnt signaling pathway GO:0090090 9.13 NPHP4 NPHP3 INVS
5 determination of left/right symmetry GO:0007368 8.8 NPHP3 NEK8 ANKS6

Sources for Infantile Nephronophthisis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....