MCID: NPH033
MIFTS: 19

Nephronophthisis 7

Categories: Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Nephronophthisis 7

MalaCards integrated aliases for Nephronophthisis 7:

Name: Nephronophthisis 7 54 12 24 71 29 13 69
Nphp7 12 24 71

Characteristics:

HPO:

32
nephronophthisis 7:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 611498
Disease Ontology 12 DOID:0111116
MedGen 40 C1969092
MeSH 42 D052177

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 tubular atrophy, nephronophthisis 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

Symptoms & Phenotypes for Nephronophthisis 7

Clinical features from OMIM:

611498

Human phenotypes related to Nephronophthisis 7:

32
id Description HPO Frequency HPO Source Accession
1 tubular atrophy 32 HP:0000092
2 nephronophthisis 32 HP:0000090
3 stage 5 chronic kidney disease 32 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:

id Genetic test Affiliating Genes
1 Nephronophthisis 7 29 24 GLIS2

Anatomical Context for Nephronophthisis 7

MalaCards organs/tissues related to Nephronophthisis 7:

39
Kidney

Publications for Nephronophthisis 7

Variations for Nephronophthisis 7

ClinVar genetic disease variations for Nephronophthisis 7:

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

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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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