MCID: HYP268
MIFTS: 20

Hypercalciuria, Absorptive malady

Category: Genetic diseases (common)

Aliases & Classifications for Hypercalciuria, Absorptive

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Aliases & Descriptions for Hypercalciuria, Absorptive:

Name: Hypercalciuria, Absorptive 49 11 47
Hypercalciuria Familial Idiopathic 67 24
Hypercalciuria, Absorptive, Susceptibility to 11
 
Hypercalciuria Absorptive 2 67
Hca2 67

Characteristics:

HPO:

61
hypercalciuria, absorptive:
Inheritance: heterogeneous, autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 143870
MedGen34 C0342639
MeSH36 D053565

Summaries for Hypercalciuria, Absorptive

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UniProtKB/Swiss-Prot:67 Hypercalciuria absorptive 2: A common type of hypercalciuria, a condition characterized by excessive urinary calcium excretion. Absorptive hypercalciuria is due to gastrointestinal hyperabsorption of calcium and is a frequent cause of calcium oxalate nephrolithiasis.

MalaCards based summary: Hypercalciuria, Absorptive, also known as hypercalciuria familial idiopathic, is related to glioma and dominant beta-thalassemia, and has symptoms including calcium oxalate nephrolithiasisand hypercalciuria. An important gene associated with Hypercalciuria, Absorptive is ADCY10 (Adenylate Cyclase 10 (Soluble)), and among its related pathways is cAMP signaling pathway.

Description from OMIM:49 143870

Related Diseases for Hypercalciuria, Absorptive

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Graphical network of 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 calcium oxalate nephrolithiasis HP:0008672
2 hypercalciuria HP:0002150

Drugs & Therapeutics for Hypercalciuria, Absorptive

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Drugs for Hypercalciuria, Absorptive (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Potassium CitratePhase 321
2potassium phosphatePhase 310
3Protective AgentsPhase 35651
4Respiratory System AgentsPhase 33931
5Natriuretic AgentsPhase 31403
6ExpectorantsPhase 3337
7Cariostatic AgentsPhase 3232
8diureticsPhase 31194
9CitrateNutraceuticalPhase 31001
10
Citric AcidnutraceuticalPhase 3100177-92-9311
Synonyms:
2-Hydroxy-1,2,3-propanetricarboxylate
2-Hydroxy-1,2,3-propanetricarboxylic acid
2-Hydroxytricarballylic acid
3-Carboxy-3-hydroxypentane-1,5-dioate
3-Carboxy-3-hydroxypentane-1,5-dioic acid
Aciletten
Anhydrous citrate
Anhydrous citric acid
Chemfill
Citraclean
 
Citrate
Citretten
Citric acid
Citro
Citronensäure
E 330
Hydrocerol A
Kyselina citronova
Suby G
Uro-trainer
beta-Hydroxytricarballylate
beta-Hydroxytricarballylic acid

Interventional clinical trials:

idNameStatusNCT IDPhase
1Phase III Randomized, Double-Blind Study of Potassium Phosphate Vs Potassium Citrate for Absorptive HypercalciuriaCompletedNCT00004284Phase 3

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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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Pathways related to Hypercalciuria, Absorptive according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.5ADCY10, HCAR2

GO Terms for genes affiliated with Hypercalciuria, Absorptive

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Sources for Hypercalciuria, Absorptive

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet