NPHL2
MCID: DNT020
MIFTS: 15

Dent Disease 1 (NPHL2) malady

Genetic diseases, Rare diseases, Nephrological diseases categories
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Summaries for Dent Disease 1

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MalaCards based summary: Dent Disease 1, is also known as nephrolithiasis 2 An important gene associated with Dent Disease 1 is CLCN5 (chloride channel, voltage-sensitive 5).

Aliases & Classifications for Dent Disease 1

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Dent Disease 1, Aliases & Descriptions:

Name: Dent Disease 1 42 20 22 62
Nephrolithiasis 2 42 62
Nephrolithiasis, Hypercalciuria X-Linked 42
 
Urolithiasis, Hypercalciuric X-Linked 42
Nphl2 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Nephrological diseases


Related Diseases for Dent Disease 1

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Diseases in the Dent's Disease family:

dent disease 1 Dent Disease 2

Symptoms for Dent Disease 1

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Drugs & Therapeutics for Dent Disease 1

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Drug clinical trials:

Search ClinicalTrials for Dent Disease 1

Search NIH Clinical Center for Dent Disease 1

Genetic Tests for Dent Disease 1

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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

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Animal Models for Dent Disease 1 or affiliated genes

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Publications for Dent Disease 1

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Articles related to Dent Disease 1:

idTitleAuthorsYear
1
Novel mutations of the CLCN5 gene including a complex allele and A 5' UTR mutation in Dent disease 1. (19673950)
2009

Variations for Dent Disease 1

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Clinvar genetic disease variations for Dent Disease 1:

6 (show all 12)
id Gene Name Type Significance SNP ID Assembly Location
1CLCN5NM_001127899.3(CLCN5): c.1047G> A (p.Trp349Ter)single nucleotide variantPathogenicrs151340620GRCh37Chr X, 49851017: 49851017
2CLCN5NM_001127899.3(CLCN5): c.2152C> T (p.Arg718Ter)single nucleotide variantPathogenicrs151340621GRCh37Chr X, 49855335: 49855335
3CLCN5NM_001127899.3(CLCN5): c.809T> G (p.Leu270Arg)single nucleotide variantPathogenicrs151340622GRCh37Chr X, 49846380: 49846380
4CLCN5NM_001127899.3(CLCN5): c.1768T> C (p.Ser590Pro)single nucleotide variantPathogenicrs151340623GRCh37Chr X, 49854796: 49854796
5CLCN5NM_001127899.3(CLCN5): c.989G> T (p.Gly330Val)single nucleotide variantPathogenicrs151340630GRCh37Chr X, 49850692: 49850692
6CLCN5NM_001127899.3(CLCN5): c.1230C> A (p.Asn410Lys)single nucleotide variantPathogenicrs273585646GRCh37Chr X, 49851200: 49851200
7CLCN5NM_001127899.3(CLCN5): c.1747G> A (p.Gly583Arg)single nucleotide variantPathogenicrs273585647GRCh37Chr X, 49854775: 49854775
8CLCN5NM_001127899.3(CLCN5): c.1847A> G (p.Lys616Arg)single nucleotide variantPathogenicrs273585649GRCh37Chr X, 49854875: 49854875
9CLCN5NM_001127899.3(CLCN5): c.1849T> G (p.Trp617Gly)single nucleotide variantPathogenicrs273585650GRCh37Chr X, 49854877: 49854877
10CLCN5NM_001127899.3(CLCN5): c.884T> C (p.Leu295Pro)single nucleotide variantPathogenicrs273585645GRCh37Chr X, 49846455: 49846455
11CLCN5NM_001127899.3(CLCN5): c.1025A> G (p.Tyr342Cys)single nucleotide variantPathogenicrs273585644GRCh37Chr X, 49850995: 49850995
12CLCN5NM_001127899.3(CLCN5): c.1044G> C (p.Leu348Phe)single nucleotide variantPathogenicrs273585648GRCh37Chr X, 49851014: 49851014

Expression for genes affiliated with Dent Disease 1

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Expression patterns in normal tissues for genes affiliated with Dent Disease 1

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Pathways for genes affiliated with Dent Disease 1

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Compounds for genes affiliated with Dent Disease 1

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GO Terms for genes affiliated with Dent Disease 1

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Products for genes affiliated with Dent Disease 1

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  • Antibodies
  • Proteins
  • Lysates

Sources for Dent Disease 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet