MCID: NPH033
MIFTS: 18

Nephronophthisis 7

Categories: Genetic diseases, Rare diseases, Nephrological diseases

Aliases & Classifications for Nephronophthisis 7

MalaCards integrated aliases for Nephronophthisis 7:

Name: Nephronophthisis 7 53 12 71 28 13 69
Nphp7 53 12 71

Characteristics:

HPO:

31
nephronophthisis 7:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 611498
Disease Ontology 12 DOID:0111116
MedGen 39 C1969092
MeSH 41 D052177
SNOMED-CT via HPO 65 258211005 204958008 433146000
UMLS 69 C1969092

Summaries for Nephronophthisis 7

UniProtKB/Swiss-Prot : 71 Nephronophthisis 7: An autosomal recessive disorder resulting in end-stage renal disease during childhood or adolescence. It is a progressive tubulo- interstitial kidney disorder histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts.

MalaCards based summary : Nephronophthisis 7, also known as nphp7, is related to nephronophthisis, and has symptoms including nephronophthisis, tubular atrophy and stage 5 chronic kidney disease. An important gene associated with Nephronophthisis 7 is GLIS2 (GLIS Family Zinc Finger 2). Affiliated tissues include kidney.

Disease Ontology : 12 A nephronophthisis that has material basis in homozygous mutation in the GLIS2 gene on chromosome 16p13.

Description from OMIM: 611498

Related Diseases for Nephronophthisis 7

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 Late-Onset Nephronophthisis

Diseases related to Nephronophthisis 7 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 nephronophthisis 9.9

Symptoms & Phenotypes for Nephronophthisis 7

Clinical features from OMIM:

611498

Human phenotypes related to Nephronophthisis 7:

31
# Description HPO Frequency HPO Source Accession
1 nephronophthisis 31 HP:0000090
2 tubular atrophy 31 HP:0000092
3 stage 5 chronic kidney disease 31 HP:0003774

Drugs & Therapeutics for Nephronophthisis 7

Search Clinical Trials , NIH Clinical Center for Nephronophthisis 7

Genetic Tests for Nephronophthisis 7

Genetic tests related to Nephronophthisis 7:

# Genetic test Affiliating Genes
1 Nephronophthisis 7 28 GLIS2

Anatomical Context for Nephronophthisis 7

MalaCards organs/tissues related to Nephronophthisis 7:

38
Kidney

Publications for Nephronophthisis 7

Articles related to Nephronophthisis 7:

# Title Authors Year
1
The C175R mutation alters nuclear localization and transcriptional activity of the nephronophthisis NPHP7 gene product. ( 26374130 )
2015

Variations for Nephronophthisis 7

ClinVar genetic disease variations for Nephronophthisis 7:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GLIS2 NM_032575.2(GLIS2): c.523T> C (p.Cys175Arg) single nucleotide variant Pathogenic rs587777353 GRCh38 Chromosome 16, 4335060: 4335060
2 GLIS2 GLIS2, IVS5DS, G-T, +1 single nucleotide variant Pathogenic

Expression for Nephronophthisis 7

Search GEO for disease gene expression data for Nephronophthisis 7.

Pathways for Nephronophthisis 7

GO Terms for Nephronophthisis 7

Sources for Nephronophthisis 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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