NPHL2
MCID: DNT020
MIFTS: 11

Dent Disease 1 (NPHL2) malady

Nephrological category

Summaries for Dent Disease 1

Sources:
33MalaCards
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MalaCards: Dent Disease 1, is also known as nephrolithiasis, hypercalciuria x-linked An important gene associated with Dent Disease 1 is CLCN5 (chloride channel, voltage-sensitive 5).

Aliases & Classifications for Dent Disease 1

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 61UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Nephrological


Aliases & Descriptions:

dent disease 1 43 20 22 61
nephrolithiasis, hypercalciuria x-linked 43
urolithiasis, hypercalciuric x-linked 43
nephrolithiasis 2 43
nphl2 43


Related Diseases for Dent Disease 1

Diseases in the dent's disease family:

dent disease 1 dent disease 2

Clinical Features for Dent Disease 1

Drugs & Therapeutics for Dent Disease 1

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Dent Disease 1

Drug clinical trials:

Search ClinicalTrials for Dent Disease 1

Search NIH Clinical Center for Dent Disease 1

Search CenterWatch for Dent Disease 1

Genetic Tests for Dent Disease 1

Sources:
20GeneTests, 22GTR
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Genetic tests related to Dent Disease 1:

id Genetic test Affiliating Genes
1 Dent Disease 120 22 CLCN5

Anatomical Context for Dent Disease 1

Animal Models for Dent Disease 1 or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Dent Disease 1

Sources:
51PubMed
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Articles related to Dent Disease 1:

idTitleAuthorsYear
1
SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner-ear disease and FADD in ocular coloboma. (17656375)
2007

Genetic Variations for Dent Disease 1

Expression for genes affiliated with Dent Disease 1

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Dent Disease 1

Search GEO for disease gene expression data for Dent Disease 1.

Pathways for genes affiliated with Dent Disease 1

Compounds for genes affiliated with Dent Disease 1

GO Terms for genes affiliated with Dent Disease 1

Products for genes affiliated with Dent Disease 1

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Dent Disease 1

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet