MCID: NPH046
MIFTS: 10

Nephrolithiasis, Type I malady

Nephrological category

Summaries for Nephrolithiasis, Type I

Sources:
47OMIM, 33MalaCards
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MalaCards: Nephrolithiasis, Type I An important gene associated with Nephrolithiasis, Type I is CLCN5 (chloride channel, voltage-sensitive 5). Affiliated tissues include kidney.

Description from OMIM:47 310468

Aliases & Classifications for Nephrolithiasis, Type I

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47OMIM
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Classifications:

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


Aliases & Descriptions:

nephrolithiasis, type i 47


Related Diseases for Nephrolithiasis, Type I

Diseases in the nephrolithiasis family:

nephrolithiasis, type i

Clinical Features for Nephrolithiasis, Type I

Sources:
47OMIM
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Clinical features from OMIM:

310468

Clinical synopsis from OMIM:

310468

Drugs & Therapeutics for Nephrolithiasis, Type I

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

Search CenterWatch for Nephrolithiasis, Type I

Drug clinical trials:

Search ClinicalTrials for Nephrolithiasis, Type I

Search NIH Clinical Center for Nephrolithiasis, Type I

Search CenterWatch for Nephrolithiasis, Type I

Genetic Tests for Nephrolithiasis, Type I

Anatomical Context for Nephrolithiasis, Type I

Sources:
33MalaCards
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MalaCards organs/tissues related to Nephrolithiasis, Type I:

33
Kidney

Animal Models for Nephrolithiasis, Type I or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Nephrolithiasis, Type I

Sources:
51PubMed
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Articles related to Nephrolithiasis, Type I:

idTitleAuthorsYear
1
Beware the low urine pH--the major cause of the increased prevalence of nephrolithiasis in the patient with type 2 diabetes. (21992452)
2012
2
Retrograde intrarenal surgery for nephrolithiasis in a 2-year-old boy with type 1 glycogen storage disease: a case report. (22182359)
2012
3
Neurofibromatosis type 1 with idiopathic hypercalciuria, nephrolithiasis and horseshoe kidney. (20182752)
2010
4
Severe lactic acidosis and nephrolithiasis in an infant--etiology?: type 1 glycogen storage disease (GSD). (16703371)
2006
5
Type IV renal tubular acidosis and uric acid nephrolithiasis in William's syndrome--an unusual mode of renal involvement. (9249793)
1997
6
Incidence of radiographically evident bone disease, nephrocalcinosis, and nephrolithiasis in various types of renal tubular acidosis. (7088070)
1982

Genetic Variations for Nephrolithiasis, Type I

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Nephrolithiasis, Type I:

63
id Symbol AA change Variation SNP ID
1CLCN5p.Gly506GluVAR_001620

Expression for genes affiliated with Nephrolithiasis, Type I

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Nephrolithiasis, Type I

Search GEO for disease gene expression data for Nephrolithiasis, Type I.

Pathways for genes affiliated with Nephrolithiasis, Type I

Compounds for genes affiliated with Nephrolithiasis, Type I

GO Terms for genes affiliated with Nephrolithiasis, Type I

Products for genes affiliated with Nephrolithiasis, Type I

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Nephrolithiasis, Type I

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