MCID: HYP268
MIFTS: 28

Hypercalciuria, Absorptive malady

Nephrological diseases, Rare diseases categories

Summaries for Hypercalciuria, Absorptive

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MalaCards based summary: Hypercalciuria, Absorptive, also known as idiopathic hypercalciuria, is related to nephrolithiasis and nephrocalcinosis, and has symptoms including autosomal dominant inheritance, heterogeneous and hypercalciuria. 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.

Descriptions from OMIM:46 143870,607258

Aliases & Classifications for Hypercalciuria, Absorptive

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Sources:
46OMIM, 44Novoseek, 48Orphanet, 61UMLS, 27ICD10 via Orphanet
See all sources

Hypercalciuria, Absorptive, Aliases & Descriptions:

Name: Hypercalciuria, Absorptive 46 44
 
Idiopathic Hypercalciuria 48 61


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Nephrological diseases
Orphanet: 48 
Rare renal diseases


External Ids:

ICD10 via Orphanet27 E83.5

Related Diseases for Hypercalciuria, Absorptive

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Graphical network of the top 20 diseases related to Hypercalciuria, Absorptive:



Diseases related to hypercalciuria, absorptive

Symptoms for Hypercalciuria, Absorptive

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Symptoms by clinical synopsis from OMIM:

143870

Clinical features from OMIM:

143870,607258

HPO human phenotypes related to Hypercalciuria, Absorptive:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 heterogeneous HP:0001425
3 hypercalciuria HP:0002150
4 calcium oxalate nephrolithiasis HP:0008672

Drugs & Therapeutics for Hypercalciuria, Absorptive

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Drug clinical trials:

Search ClinicalTrials for Hypercalciuria, Absorptive

Search NIH Clinical Center for Hypercalciuria, Absorptive

Genetic Tests for Hypercalciuria, Absorptive

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Anatomical Context for Hypercalciuria, Absorptive

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Animal Models for Hypercalciuria, Absorptive or affiliated genes

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Publications for Hypercalciuria, Absorptive

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Variations for Hypercalciuria, Absorptive

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Expression for genes affiliated with Hypercalciuria, Absorptive

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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

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Compounds for genes affiliated with Hypercalciuria, Absorptive

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Compounds related to Hypercalciuria, Absorptive according to GeneCards/GeneDecks:

(show all 19)
idCompoundScoreTop Affiliating Genes
124,25-dihydroxyvitamin d3449.8ADCY10, VDR
2guanine44 25 1211.5VDR, ADCY10
322-oxacalcitriol449.5CASR, VDR
4thiazide449.4VDR, CASR
5xbai449.4CASR, VDR
6genistein44 29 60 3 25 1214.4ADCY10, VDR
7hydrochlorothiazide44 29 50 25 1213.4CASR, VDR
825-hydroxyvitamin d449.4CASR, VDR
9phosphorus449.4CASR, VDR
101,25 dihydroxy vitamin d3449.3VDR, CASR
11inositol 1,4,5 trisphosphate449.3CASR, ADCY10
12calcitriol44 60 25 1212.2CASR, VDR
13vitamin d449.1CASR, VDR
14actinomycin d449.0CASR, VDR
15pge2448.9VDR, ADCY10, CASR
16adenylate448.9CASR, ADCY10, VDR
17forskolin44 50 1210.8CASR, ADCY10
18arginine448.8VDR, ADCY10, CASR
19glutamate448.8CASR, ADCY10, VDR

GO Terms for genes affiliated with Hypercalciuria, Absorptive

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Biological processes related to Hypercalciuria, Absorptive according to GeneCards/GeneDecks:

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

Products for genes affiliated with Hypercalciuria, Absorptive

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Hypercalciuria, Absorptive

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet