MCID: HYP268
MIFTS: 21

Hypercalciuria, Absorptive malady

Genetic diseases (common) category

Aliases & Classifications for Hypercalciuria, Absorptive

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Aliases & Descriptions for Hypercalciuria, Absorptive:

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


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, absorptive, susceptibility to, is related to prostatic cyst and candidiasis, and has symptoms including autosomal dominant inheritance, heterogeneous and hypercalciuria. An important gene associated with Hypercalciuria, Absorptive is ADCY10 (Adenylate Cyclase 10 (Soluble)).

Description from OMIM:49 143870

Related Diseases for Hypercalciuria, Absorptive

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Diseases related to Hypercalciuria, Absorptive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
idRelated DiseaseScoreTop Affiliating Genes
1prostatic cyst9.9CASR, VDR
2candidiasis9.9CASR, VDR
3parietal lobe neoplasm9.9CASR, VDR
4hereditary elliptocytosis9.9CASR, VDR
5loeys-dietz syndrome9.9CASR, VDR
6neuroectodermal tumor9.9CASR, VDR
7facial neuralgia9.8CASR, VDR
8ureter cancer9.8CASR, VDR
9hyperpituitarism9.8CASR, VDR
10nephrocalcinosis9.8CASR, VDR
11dominant beta-thalassemia9.7ADCY10, CASR, VDR
12neuromyelitis optica9.7CASR, VDR
13hypercalciuria, absorptive9.5ADCY10, CASR, HCA1, VDR

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1potassium phosphatePhase 39
2Potassium CitratePhase 318
3ExpectorantsPhase 3320
4
Citric AcidnutraceuticalPhase 378477-92-9311
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
5CitrateNutraceuticalPhase 3784

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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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
1positive regulation of gene expressionGO:00106289.1CASR, VDR
2cellular calcium ion homeostasisGO:00068748.8CASR, VDR

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