MCID: HYP268
MIFTS: 26

Hypercalciuria, Absorptive malady

Nephrological category

Summaries for Hypercalciuria, Absorptive

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47OMIM, 33MalaCards
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MalaCards: Hypercalciuria, Absorptive, also known as idiopathic hypercalciuria, is related to nephrolithiasis and nephrocalcinosis. An important gene associated with Hypercalciuria, Absorptive is ADCY10 (adenylate cyclase 10 (soluble)). The compounds 24,25-dihydroxyvitamin d3 and guanine have been mentioned in the context of this disorder. Affiliated tissues include skin.

Description from OMIM:47 143870,607258

Aliases & Classifications for Hypercalciuria, Absorptive

Sources:
47OMIM, 45Novoseek, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
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Classifications:

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


Aliases & Descriptions:

hypercalciuria, absorptive 47 45
idiopathic hypercalciuria 49 61


External Ids:

ICD10 via Orphanet26 E83.5

Related Diseases for Hypercalciuria, Absorptive

Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Hypercalciuria, Absorptive:



Diseases related to hypercalciuria, absorptive

Clinical Features for Hypercalciuria, Absorptive

Sources:
47OMIM
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Clinical features from OMIM:

143870,607258

Clinical synopsis from OMIM:

143870

Drugs & Therapeutics for Hypercalciuria, Absorptive

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Hypercalciuria, Absorptive

Search CenterWatch for Hypercalciuria, Absorptive

Genetic Tests for Hypercalciuria, Absorptive

Anatomical Context for Hypercalciuria, Absorptive

Sources:
33MalaCards
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MalaCards organs/tissues related to Hypercalciuria, Absorptive:

33
Skin

Animal Models for Hypercalciuria, Absorptive or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Hypercalciuria, Absorptive

Sources:
51PubMed
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Articles related to Hypercalciuria, Absorptive:

idTitleAuthorsYear
1
Urinary excretion of endothelin-1 in children with absorptive idiopathic hypercalciuria. (14523636)
2003
2
Identification and characterization of a gene with base substitutions associated with the absorptive hypercalciuria phenotype and low spinal bone density. (11932268)
2002
3
4q33-qter deletion and absorptive hypercalciuria: report of two unrelated girls. (9637423)
1998
4
Normal vitamin D receptor concentration and responsiveness to 1, 25-dihydroxyvitamin D3 in skin fibroblasts from patients with absorptive hypercalciuria. (9705566)
1998
5
Evidence for normal vitamin D receptor messenger ribonucleic acid and genotype in absorptive hypercalciuria. (7559881)
1995
6
Renal hypouricemia and absorptive hypercalciuria: a real syndrome. (8450908)
1993
7
Hereditary renal hypouricemia with hyperuricosuria and variably absorptive hypercalciuria and urolithiasis--a new syndrome. (7424628)
1980

Genetic Variations for Hypercalciuria, Absorptive

Expression for genes affiliated with Hypercalciuria, Absorptive

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

Search GEO for disease gene expression data for Hypercalciuria, Absorptive.

Pathways for genes affiliated with Hypercalciuria, Absorptive

Compounds for genes affiliated with Hypercalciuria, Absorptive

Sources:
45Novoseek, 11DrugBank, 24HMDB, 50PharmGKB, 29IUPHAR, 60Tocris Bioscience
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Compounds related to Hypercalciuria, Absorptive according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
124,25-dihydroxyvitamin d3459.7ADCY10, VDR
2guanine45 11 2411.4ADCY10, VDR
322-oxacalcitriol459.4VDR, CASR
4thiazide459.4VDR, CASR
5xbai459.4VDR, CASR
6hydrochlorothiazide45 50 29 11 2413.4CASR, VDR
725-hydroxyvitamin d459.3VDR, CASR
8phosphorus459.3VDR, CASR
91,25 dihydroxy vitamin d3459.1CASR, VDR
10inositol 1,4,5 trisphosphate459.0ADCY10, CASR
11calcitriol45 60 11 2411.8VDR, CASR
12pge2458.8ADCY10, VDR, CASR
13adenylate458.8CASR, VDR, ADCY10
14arginine458.7ADCY10, VDR, CASR
15glutamate458.7ADCY10, VDR, CASR

GO Terms for genes affiliated with Hypercalciuria, Absorptive

Sources:
16Gene Ontology
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Biological processes related to Hypercalciuria, Absorptive according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cellular calcium ion homeostasisGO:0068749.1VDR, CASR

Products for genes affiliated with Hypercalciuria, Absorptive

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hypercalciuria, Absorptive

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