MCID: INF147
MIFTS: 30

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 60 30 6
Autosomal Recessive Infantile Nephronophthisis 60
Autosomal Recessive Infantile Nphp 60
Nephronophthisis 2 74

Classifications:

Orphanet: 60  
Rare renal diseases


External Ids:

ICD10 via Orphanet 35 Q61.5
Orphanet 60 ORPHA93591
UMLS 74 C1865872

Summaries for Infantile Nephronophthisis

MalaCards based summary : Infantile Nephronophthisis, also known as autosomal recessive infantile nephronophthisis, is related to nephronophthisis 2 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 related phenotypes are cardiovascular system and growth/size/body region

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 all 22)
# Related Disease Score Top Affiliating Genes
1 nephronophthisis 2 32.0 INVS NEK8 NPHP3 NPHP4
2 juvenile nephronophthisis 31.1 ANKS6 INVS NPHP3 NPHP4
3 nephronophthisis 29.7 ANKS6 CEP83 INVS NEK8 NPHP3 NPHP4
4 nephronophthisis 15 10.2 CEP83 INVS
5 meckel syndrome, type 6 10.1 INVS NPHP4
6 nephronophthisis 11 10.1 NPHP3 NPHP4
7 cogan syndrome 10.0 NPHP3 NPHP4
8 alacrima, achalasia, and mental retardation syndrome 10.0
9 nephronophthisis 14 10.0 NPHP4 ZNF423
10 nephronophthisis 1 9.9 INVS NPHP3 NPHP4
11 interstitial nephritis 9.9 ANKS6 INVS
12 renal-hepatic-pancreatic dysplasia 9.9 INVS NEK8 NPHP3
13 visceral heterotaxy 9.8 INVS NPHP3
14 bardet-biedl syndrome 13 9.8 NPHP3 TTC21B
15 meckel syndrome, type 1 9.7 INVS NPHP4 TTC21B
16 leber congenital amaurosis 9.6 NPHP3 NPHP4 ZNF423
17 bardet-biedl syndrome 9.5 INVS NPHP4 TTC21B
18 senior-loken syndrome 1 9.4 INVS NPHP3 NPHP4 TTC21B
19 nephronophthisis 18 9.4 CEP83 INVS NEK8 NPHP3 NPHP4
20 nephronophthisis 9 9.3 ANKS6 INVS NEK8 NPHP3 NPHP4
21 cystic kidney disease 9.3 ANKS6 INVS NEK8 NPHP3 NPHP4
22 joubert syndrome 1 9.1 INVS NPHP3 NPHP4 TTC21B ZNF423

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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.65 ANKS6 INVS NEK8 NPHP3 NPHP4
2 growth/size/body region MP:0005378 9.63 ANKS6 INVS NEK8 NPHP3 TTC21B ZNF423
3 renal/urinary system MP:0005367 9.35 INVS NEK8 NPHP3 NPHP4 TTC21B
4 respiratory system MP:0005388 8.92 ANKS6 INVS NEK8 ZNF423

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 30 INVS

Anatomical Context for Infantile Nephronophthisis

MalaCards organs/tissues related to Infantile Nephronophthisis:

42
Kidney

Publications for Infantile Nephronophthisis

Articles related to Infantile Nephronophthisis:

# 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 Infantile Nephronophthisis

ClinVar genetic disease variations for Infantile Nephronophthisis:

6 (show top 50) (show all 103)
# 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 NM_014425.5(INVS): c.1453del (p.Gln485Lysfs) deletion Pathogenic GRCh37 Chromosome 9, 103015407: 103015407
10 INVS NM_014425.5(INVS): c.1453del (p.Gln485Lysfs) deletion Pathogenic GRCh38 Chromosome 9, 100253125: 100253125
11 ANKS6 NM_173551.4(ANKS6): c.1322A> G (p.Gln441Arg) single nucleotide variant Pathogenic rs377750405 GRCh37 Chromosome 9, 101542517: 101542517
12 ANKS6 NM_173551.4(ANKS6): c.1322A> G (p.Gln441Arg) single nucleotide variant Pathogenic rs377750405 GRCh38 Chromosome 9, 98780235: 98780235
13 ANKS6 NM_173551.4(ANKS6): c.1973-3C> G single nucleotide variant Likely pathogenic rs397514257 GRCh37 Chromosome 9, 101530535: 101530535
14 ANKS6 NM_173551.4(ANKS6): c.1973-3C> G single nucleotide variant Likely pathogenic rs397514257 GRCh38 Chromosome 9, 98768253: 98768253
15 ANKS6 NM_173551.4(ANKS6): c.2054_2064delATCGGTCAAGC (p.His685Profs) deletion Pathogenic rs587777024 GRCh37 Chromosome 9, 101530441: 101530451
16 ANKS6 NM_173551.4(ANKS6): c.2054_2064delATCGGTCAAGC (p.His685Profs) deletion Pathogenic rs587777024 GRCh38 Chromosome 9, 98768159: 98768169
17 ANKS6 NM_173551.4(ANKS6): c.2370_2372delTCA (p.Tyr790_Ala871del) deletion Pathogenic rs587777025 GRCh37 Chromosome 9, 101513333: 101513335
18 ANKS6 NM_173551.4(ANKS6): c.2370_2372delTCA (p.Tyr790_Ala871del) deletion Pathogenic rs587777025 GRCh38 Chromosome 9, 98751051: 98751053
19 ANKS6 NM_173551.4(ANKS6): c.2512-2A> C single nucleotide variant Pathogenic rs397514258 GRCh37 Chromosome 9, 101498907: 101498907
20 ANKS6 NM_173551.4(ANKS6): c.2512-2A> C single nucleotide variant Pathogenic rs397514258 GRCh38 Chromosome 9, 98736625: 98736625
21 INVS NM_014425.4(INVS): c.1235-5T> C single nucleotide variant Benign rs2245216 GRCh37 Chromosome 9, 103015184: 103015184
22 INVS NM_014425.4(INVS): c.1235-5T> C single nucleotide variant Benign rs2245216 GRCh38 Chromosome 9, 100252902: 100252902
23 INVS NM_014425.4(INVS): c.2412T> C (p.Ser804=) single nucleotide variant Benign rs2787374 GRCh37 Chromosome 9, 103054951: 103054951
24 INVS NM_014425.4(INVS): c.2412T> C (p.Ser804=) single nucleotide variant Benign rs2787374 GRCh38 Chromosome 9, 100292669: 100292669
25 INVS NM_014425.4(INVS): c.2310C> T (p.His770=) single nucleotide variant Conflicting interpretations of pathogenicity rs116606949 GRCh37 Chromosome 9, 103054849: 103054849
26 INVS NM_014425.4(INVS): c.2310C> T (p.His770=) single nucleotide variant Conflicting interpretations of pathogenicity rs116606949 GRCh38 Chromosome 9, 100292567: 100292567
27 INVS NM_014425.4(INVS): c.3017-5T> G single nucleotide variant Benign/Likely benign rs201018893 GRCh37 Chromosome 9, 103060213: 103060213
28 INVS NM_014425.4(INVS): c.3017-5T> G single nucleotide variant Benign/Likely benign rs201018893 GRCh38 Chromosome 9, 100297931: 100297931
29 ANKS6 NM_173551.4(ANKS6): c.2203C> G (p.Pro735Ala) single nucleotide variant Benign rs79414550 GRCh37 Chromosome 9, 101518825: 101518825
30 ANKS6 NM_173551.4(ANKS6): c.2203C> G (p.Pro735Ala) single nucleotide variant Benign rs79414550 GRCh38 Chromosome 9, 98756543: 98756543
31 ANKS6 NM_173551.4(ANKS6): c.1767G> A (p.Ala589=) single nucleotide variant Benign rs115807585 GRCh37 Chromosome 9, 101536213: 101536213
32 ANKS6 NM_173551.4(ANKS6): c.1767G> A (p.Ala589=) single nucleotide variant Benign rs115807585 GRCh38 Chromosome 9, 98773931: 98773931
33 ANKS6 NM_173551.4(ANKS6): c.1533A> C (p.Ala511=) single nucleotide variant Benign/Likely benign rs200743968 GRCh37 Chromosome 9, 101540542: 101540542
34 ANKS6 NM_173551.4(ANKS6): c.1533A> C (p.Ala511=) single nucleotide variant Benign/Likely benign rs200743968 GRCh38 Chromosome 9, 98778260: 98778260
35 ANKS6 NM_173551.4(ANKS6): c.664C> T (p.Arg222Trp) single nucleotide variant Benign rs41283630 GRCh37 Chromosome 9, 101552584: 101552584
36 ANKS6 NM_173551.4(ANKS6): c.664C> T (p.Arg222Trp) single nucleotide variant Benign rs41283630 GRCh38 Chromosome 9, 98790302: 98790302
37 ANKS6 NM_173551.4(ANKS6): c.585G> A (p.Leu195=) single nucleotide variant Benign rs75634918 GRCh37 Chromosome 9, 101552663: 101552663
38 ANKS6 NM_173551.4(ANKS6): c.585G> A (p.Leu195=) single nucleotide variant Benign rs75634918 GRCh38 Chromosome 9, 98790381: 98790381
39 ANKS6 NM_173551.4(ANKS6): c.537A> G (p.Gln179=) single nucleotide variant Benign/Likely benign rs200417280 GRCh37 Chromosome 9, 101552711: 101552711
40 ANKS6 NM_173551.4(ANKS6): c.537A> G (p.Gln179=) single nucleotide variant Benign/Likely benign rs200417280 GRCh38 Chromosome 9, 98790429: 98790429
41 INVS NM_014425.4(INVS): c.662dupG (p.Arg222Serfs) duplication Pathogenic rs769739938 GRCh37 Chromosome 9, 103002388: 103002388
42 INVS NM_014425.4(INVS): c.662dupG (p.Arg222Serfs) duplication Pathogenic rs769739938 GRCh38 Chromosome 9, 100240106: 100240106
43 INVS NC_000009.11 deletion Likely pathogenic GRCh37 Chromosome 9, 102814578: 102968415
44 ANKS6 NM_173551.4(ANKS6): c.1902G> A (p.Ser634=) single nucleotide variant Likely benign rs765475331 GRCh38 Chromosome 9, 98770966: 98770966
45 ANKS6 NM_173551.4(ANKS6): c.1902G> A (p.Ser634=) single nucleotide variant Likely benign rs765475331 GRCh37 Chromosome 9, 101533248: 101533248
46 ANKS6 NM_173551.4(ANKS6): c.1115A> G (p.Asn372Ser) single nucleotide variant Uncertain significance rs201297615 GRCh37 Chromosome 9, 101544853: 101544853
47 ANKS6 NM_173551.4(ANKS6): c.1115A> G (p.Asn372Ser) single nucleotide variant Uncertain significance rs201297615 GRCh38 Chromosome 9, 98782571: 98782571
48 ANKS6 NM_173551.4(ANKS6): c.658G> A (p.Ala220Thr) single nucleotide variant Benign rs200419394 GRCh37 Chromosome 9, 101552590: 101552590
49 ANKS6 NM_173551.4(ANKS6): c.658G> A (p.Ala220Thr) single nucleotide variant Benign rs200419394 GRCh38 Chromosome 9, 98790308: 98790308
50 ANKS6 NM_173551.4(ANKS6): c.193G> T (p.Val65Phe) single nucleotide variant Likely benign rs745881769 GRCh37 Chromosome 9, 101558581: 101558581

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 CEP83 NPHP3 NPHP4 TTC21B

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 9.55 CEP83 INVS NEK8 NPHP4 TTC21B
2 cell projection GO:0042995 9.43 ANKS6 INVS NEK8 NPHP3 NPHP4 TTC21B
3 ciliary base GO:0097546 9.26 NEK8 NPHP4
4 cilium GO:0005929 9.1 ANKS6 INVS NEK8 NPHP3 NPHP4 TTC21B

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

# Name GO ID Score Top Affiliating Genes
1 ciliary basal body-plasma membrane docking GO:0097711 9.26 CEP83 NPHP4
2 determination of left/right symmetry GO:0007368 9.16 NEK8 NPHP3
3 photoreceptor cell maintenance GO:0045494 8.96 NPHP3 NPHP4
4 negative regulation of canonical Wnt signaling pathway GO:0090090 8.8 INVS NPHP3 NPHP4

Sources for Infantile 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
41 LOVD
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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