MCID: NPH033
MIFTS: 18

Nephronophthisis 7

Categories: Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Nephronophthisis 7

MalaCards integrated aliases for Nephronophthisis 7:

Name: Nephronophthisis 7 57 12 75 29 13 6 73
Nphp7 57 12 75
Nephronophthisis, Type 7 40

Characteristics:

HPO:

32
nephronophthisis 7:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 611498
Disease Ontology 12 DOID:0111116
MedGen 42 C1969092
MeSH 44 D052177
SNOMED-CT via HPO 69 258211005 204958008 433146000
UMLS 73 C1969092

Summaries for Nephronophthisis 7

UniProtKB/Swiss-Prot : 75 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. An important gene associated with Nephronophthisis 7 is GLIS2 (GLIS Family Zinc Finger 2). Affiliated tissues include kidney, and related phenotypes are nephronophthisis and stage 5 chronic kidney disease

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
# Description HPO Frequency HPO Source Accession
1 nephronophthisis 32 HP:0000090
2 stage 5 chronic kidney disease 32 HP:0003774
3 tubular atrophy 32 HP:0000092

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 29 GLIS2

Anatomical Context for Nephronophthisis 7

MalaCards organs/tissues related to Nephronophthisis 7:

41
Kidney

Publications for Nephronophthisis 7

Variations for Nephronophthisis 7

ClinVar genetic disease variations for Nephronophthisis 7:

6
# 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
3 GLIS2 NM_032575.2(GLIS2): c.523T> C (p.Cys175Arg) single nucleotide variant Pathogenic rs587777353 GRCh37 Chromosome 16, 4385061: 4385061

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
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
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
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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