MCID: INF147
MIFTS: 32

Infantile Nephronophthisis

Categories: Nephrological diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Infantile Nephronophthisis

MalaCards integrated aliases for Infantile Nephronophthisis:

Name: Infantile Nephronophthisis 59 29 6
Autosomal Recessive Infantile Nephronophthisis 59
Autosomal Recessive Infantile Nphp 59
Nephronophthisis 2 73

Classifications:

Orphanet: 59  
Rare renal diseases


External Ids:

Orphanet 59 ORPHA93591
ICD10 via Orphanet 34 Q61.5
UMLS 73 C1865872

Summaries for Infantile Nephronophthisis

MalaCards based summary : Infantile Nephronophthisis, also known as autosomal recessive infantile nephronophthisis, is related to nephronophthisis 2 and cystic kidney disease. 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 embryo

Related Diseases for Infantile Nephronophthisis

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 9.55 ANKS6 INVS NEK8 NPHP3 NPHP4
2 embryo MP:0005380 9.26 ANKS6 INVS NPHP3 TTC21B
3 renal/urinary system MP:0005367 9.02 INVS NEK8 NPHP3 NPHP4 TTC21B

Drugs & Therapeutics for Infantile Nephronophthisis

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5 The Inova Type 2 Diabetes Mellitus Study Withdrawn NCT02222623 Not Applicable Glargine;NPH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 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:

41
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 84)
# 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 ANKS6 NM_173551.4(ANKS6): c.2370_2372delTCA (p.Tyr790_Ala871del) deletion Pathogenic rs587777025 GRCh37 Chromosome 9, 101513333: 101513335
11 ANKS6 NM_173551.4(ANKS6): c.2370_2372delTCA (p.Tyr790_Ala871del) deletion Pathogenic rs587777025 GRCh38 Chromosome 9, 98751051: 98751053
12 ANKS6 NM_173551.4(ANKS6): c.1322A> G (p.Gln441Arg) single nucleotide variant Pathogenic rs377750405 GRCh37 Chromosome 9, 101542517: 101542517
13 ANKS6 NM_173551.4(ANKS6): c.1322A> G (p.Gln441Arg) single nucleotide variant Pathogenic rs377750405 GRCh38 Chromosome 9, 98780235: 98780235
14 ANKS6 NM_173551.4(ANKS6): c.1973-3C> G single nucleotide variant Likely pathogenic rs397514257 GRCh37 Chromosome 9, 101530535: 101530535
15 ANKS6 NM_173551.4(ANKS6): c.1973-3C> G single nucleotide variant Likely pathogenic rs397514257 GRCh38 Chromosome 9, 98768253: 98768253
16 ANKS6 NM_173551.4(ANKS6): c.2054_2064delATCGGTCAAGC (p.His685Profs) deletion Pathogenic rs587777024 GRCh37 Chromosome 9, 101530441: 101530451
17 ANKS6 NM_173551.4(ANKS6): c.2054_2064delATCGGTCAAGC (p.His685Profs) deletion Pathogenic rs587777024 GRCh38 Chromosome 9, 98768159: 98768169
18 ANKS6 NM_173551.4(ANKS6): c.2512-2A> C single nucleotide variant Pathogenic rs397514258 GRCh37 Chromosome 9, 101498907: 101498907
19 ANKS6 NM_173551.4(ANKS6): c.2512-2A> C single nucleotide variant Pathogenic rs397514258 GRCh38 Chromosome 9, 98736625: 98736625
20 INVS NM_014425.4(INVS): c.2509C> T (p.Gln837Ter) single nucleotide variant Pathogenic rs755549444 GRCh37 Chromosome 9, 103055048: 103055048
21 INVS NM_014425.4(INVS): c.2509C> T (p.Gln837Ter) single nucleotide variant Pathogenic rs755549444 GRCh38 Chromosome 9, 100292766: 100292766
22 INVS NM_014425.4(INVS): c.2310C> T (p.His770=) single nucleotide variant Conflicting interpretations of pathogenicity rs116606949 GRCh37 Chromosome 9, 103054849: 103054849
23 INVS NM_014425.4(INVS): c.2310C> T (p.His770=) single nucleotide variant Conflicting interpretations of pathogenicity rs116606949 GRCh38 Chromosome 9, 100292567: 100292567
24 INVS NM_014425.4(INVS): c.3017-5T> G single nucleotide variant Benign/Likely benign rs201018893 GRCh37 Chromosome 9, 103060213: 103060213
25 INVS NM_014425.4(INVS): c.3017-5T> G single nucleotide variant Benign/Likely benign rs201018893 GRCh38 Chromosome 9, 100297931: 100297931
26 ANKS6 NM_173551.4(ANKS6): c.2203C> G (p.Pro735Ala) single nucleotide variant Benign rs79414550 GRCh37 Chromosome 9, 101518825: 101518825
27 ANKS6 NM_173551.4(ANKS6): c.2203C> G (p.Pro735Ala) single nucleotide variant Benign rs79414550 GRCh38 Chromosome 9, 98756543: 98756543
28 ANKS6 NM_173551.4(ANKS6): c.1767G> A (p.Ala589=) single nucleotide variant Benign rs115807585 GRCh37 Chromosome 9, 101536213: 101536213
29 ANKS6 NM_173551.4(ANKS6): c.1767G> A (p.Ala589=) single nucleotide variant Benign rs115807585 GRCh38 Chromosome 9, 98773931: 98773931
30 ANKS6 NM_173551.4(ANKS6): c.1533A> C (p.Ala511=) single nucleotide variant Benign rs200743968 GRCh37 Chromosome 9, 101540542: 101540542
31 ANKS6 NM_173551.4(ANKS6): c.1533A> C (p.Ala511=) single nucleotide variant Benign rs200743968 GRCh38 Chromosome 9, 98778260: 98778260
32 ANKS6 NM_173551.4(ANKS6): c.664C> T (p.Arg222Trp) single nucleotide variant Benign rs41283630 GRCh37 Chromosome 9, 101552584: 101552584
33 ANKS6 NM_173551.4(ANKS6): c.664C> T (p.Arg222Trp) single nucleotide variant Benign rs41283630 GRCh38 Chromosome 9, 98790302: 98790302
34 ANKS6 NM_173551.4(ANKS6): c.585G> A (p.Leu195=) single nucleotide variant Benign rs75634918 GRCh37 Chromosome 9, 101552663: 101552663
35 ANKS6 NM_173551.4(ANKS6): c.585G> A (p.Leu195=) single nucleotide variant Benign rs75634918 GRCh38 Chromosome 9, 98790381: 98790381
36 ANKS6 NM_173551.4(ANKS6): c.537A> G (p.Gln179=) single nucleotide variant Benign rs200417280 GRCh37 Chromosome 9, 101552711: 101552711
37 ANKS6 NM_173551.4(ANKS6): c.537A> G (p.Gln179=) single nucleotide variant Benign rs200417280 GRCh38 Chromosome 9, 98790429: 98790429
38 INVS NM_014425.4(INVS): c.662dupG (p.Arg222Serfs) duplication Pathogenic rs886042844 GRCh37 Chromosome 9, 103002388: 103002388
39 INVS NM_014425.4(INVS): c.662dupG (p.Arg222Serfs) duplication Pathogenic rs886042844 GRCh38 Chromosome 9, 100240106: 100240106
40 INVS NC_000009.11 deletion Likely pathogenic GRCh37 Chromosome 9, 102814578: 102968415
41 ANKS6 NM_173551.4(ANKS6): c.1902G> A (p.Ser634=) single nucleotide variant Likely benign rs765475331 GRCh38 Chromosome 9, 98770966: 98770966
42 ANKS6 NM_173551.4(ANKS6): c.1902G> A (p.Ser634=) single nucleotide variant Likely benign rs765475331 GRCh37 Chromosome 9, 101533248: 101533248
43 ANKS6 NM_173551.4(ANKS6): c.1115A> G (p.Asn372Ser) single nucleotide variant Uncertain significance rs201297615 GRCh37 Chromosome 9, 101544853: 101544853
44 ANKS6 NM_173551.4(ANKS6): c.1115A> G (p.Asn372Ser) single nucleotide variant Uncertain significance rs201297615 GRCh38 Chromosome 9, 98782571: 98782571
45 ANKS6 NM_173551.4(ANKS6): c.658G> A (p.Ala220Thr) single nucleotide variant Benign rs200419394 GRCh37 Chromosome 9, 101552590: 101552590
46 ANKS6 NM_173551.4(ANKS6): c.658G> A (p.Ala220Thr) single nucleotide variant Benign rs200419394 GRCh38 Chromosome 9, 98790308: 98790308
47 ANKS6 NM_173551.4(ANKS6): c.193G> T (p.Val65Phe) single nucleotide variant Likely benign rs745881769 GRCh37 Chromosome 9, 101558581: 101558581
48 ANKS6 NM_173551.4(ANKS6): c.193G> T (p.Val65Phe) single nucleotide variant Likely benign rs745881769 GRCh38 Chromosome 9, 98796299: 98796299
49 ANKS6 NM_173551.4(ANKS6): c.2564T> C (p.Phe855Ser) single nucleotide variant Likely benign rs200644058 GRCh38 Chromosome 9, 98736571: 98736571
50 ANKS6 NM_173551.4(ANKS6): c.2564T> C (p.Phe855Ser) single nucleotide variant Likely benign rs200644058 GRCh37 Chromosome 9, 101498853: 101498853

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 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
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44 MeSH
45 MESH via Orphanet
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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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