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MCID: HYP733
MIFTS: 30
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Hypercalciuria, Absorptive, 2
Categories:
Genetic diseases
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MalaCards integrated aliases for Hypercalciuria, Absorptive, 2:
Name: Hypercalciuria, Absorptive, 2
57
Characteristics:HPO:32Classifications: |
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UniProtKB/Swiss-Prot
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75
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, 2, also known as hypercalciuria, absorptive, susceptibility to, is related to hypophosphatemic rickets with hypercalciuria, hereditary and idiopathic hypercalciuria, and has symptoms including polyuria, lower urinary tract symptoms and urological manifestations. An important gene associated with Hypercalciuria, Absorptive, 2 is ADCY10 (Adenylate Cyclase 10), and among its related pathways/superpathways is Parathyroid hormone synthesis, secretion and action. Related phenotypes are hypercalciuria and calcium oxalate nephrolithiasis
Description from OMIM:
143870
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:143870Human phenotypes related to Hypercalciuria, Absorptive, 2:32
UMLS symptoms related to Hypercalciuria, Absorptive, 2:polyuria, lower urinary tract symptoms, urological manifestations |
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Cochrane evidence based reviews: hypercalciuria |
Articles related to Hypercalciuria, Absorptive, 2:
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Genes related to Hypercalciuria, Absorptive, 2 (2 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Hypercalciuria, Absorptive, 2:6
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Search
GEO
for disease gene expression data for Hypercalciuria, Absorptive, 2.
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Cellular components related to Hypercalciuria, Absorptive, 2 according to GeneCards Suite gene sharing:
Biological processes related to Hypercalciuria, Absorptive, 2 according to GeneCards Suite gene sharing:
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