MCID: HYP268
MIFTS: 22

Hypercalciuria, Absorptive malady

Genetic diseases (common) category

Summaries for Hypercalciuria, Absorptive

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MalaCards based summary: Hypercalciuria, Absorptive, also known as hypercalciuria, absorptive, susceptibility to, is related to rickets and renal osteodystrophy, and has symptoms including autosomal dominant inheritance, heterogeneous and hypercalciuria. An important gene associated with Hypercalciuria, Absorptive is HCA1 (Hypercalciuria, absorptive, 1). The compounds 22-oxacalcitriol and thiazide have been mentioned in the context of this disorder.

Description from OMIM:45 143870

Aliases & Classifications for Hypercalciuria, Absorptive

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Sources:
45OMIM, 43Novoseek, 10diseasecard
See all sources

Hypercalciuria, Absorptive, Aliases & Descriptions:

Name: Hypercalciuria, Absorptive 45 43
 
Hypercalciuria, Absorptive, Susceptibility to 10


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


External Ids:

OMIM45 143870

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

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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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 Suite gene sharing:

(show all 19)
idCompoundScoreTop Affiliating Genes
122-oxacalcitriol439.7CASR, VDR
2thiazide439.6VDR, CASR
3xbai439.6CASR, VDR
4hydrochlorothiazide43 28 49 24 1213.6CASR, VDR
525-hydroxyvitamin d439.6CASR, VDR
6phosphorus439.6CASR, VDR
71,25 dihydroxy vitamin d3439.5VDR, CASR
824,25-dihydroxyvitamin d3439.5ADCY10, VDR
9calcitriol43 59 24 1212.4CASR, VDR
10vitamin d439.3CASR, VDR
11actinomycin d439.2CASR, VDR
12guanine43 24 1211.2VDR, ADCY10
13inositol 1,4,5 trisphosphate439.2CASR, ADCY10
14genistein43 28 59 2 24 1214.1ADCY10, VDR
15pge2438.8VDR, ADCY10, CASR
16adenylate438.8CASR, ADCY10, VDR
17forskolin43 49 1210.7CASR, ADCY10
18arginine438.7VDR, ADCY10, CASR
19glutamate438.7CASR, ADCY10, VDR

GO Terms for genes affiliated with Hypercalciuria, Absorptive

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Biological processes related to Hypercalciuria, Absorptive according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cellular calcium ion homeostasisGO:00068749.3CASR, 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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet