HYPERCALCIURIA, ABSORPTIVE, 2

General Information (adopted from Orphanet):

Synonyms, Signs: HYPERCALCIURIA, FAMILIAL IDIOPATHIC
HCA2
Number of Symptoms 4
OrphanetNr:
OMIM Id: 143870
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
Heterogeneous
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002150) Hypercalciuria 45 / 7739
2
(HPO:0008672) Calcium oxalate nephrolithiasis 10 / 7739
3
(OMIM) Increased erythrocyte-membrane calcium-magnesium-ATPase 1 / 7739
4
(OMIM) Increased sodium-potassium pump activity 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Coe et al. (1979) studied the families of 9 patients with idiopathic hypercalciuria and recurrent calcium oxalate stones. In 26 of 73 relatives, hypercalciuria was found, occurring in 3 consecutive generations of 2 families and in 2 successive ...
Molecular genetics OMIM Reed et al. (2002) found that mutations in the SAC gene were associated with susceptibility to absorptive hypercalciuria (see 605205.0001-605205.0002).