NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2

General Information (adopted from Orphanet):

Synonyms, Signs: NPHLOP2
Number of Symptoms 10
OrphanetNr:
OMIM Id: 612287
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0003109) Hyperphosphaturia 18 / 7739
2
(HPO:0000787) Nephrolithiasis 78 / 7739
3
(HPO:0000117) Renal phosphate wasting 14 / 7739
4
(HPO:0000939) Osteoporosis 129 / 7739
5
(HPO:0002659) Increased susceptibility to fractures 110 / 7739
6
(HPO:0000938) Osteopenia 138 / 7739
7
(HPO:0008443) Spinal deformities 5 / 7739
8
(HPO:0002148) Hypophosphatemia 43 / 7739
9
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
10
(OMIM) Increased serum 1,25-dihydroxyvitamin D 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Karim et al. (2008) reported 4 unrelated probands with hypophosphatemia and decreased renal phosphate resorption. Three of the patients had calcium nephrolithiasis, and 1 had a spinal deformity and decreased bone mineral density (BMD). All had significantly decreased ...
Molecular genetics OMIM In 4 of 92 unrelated patients with calcium-containing renal stones (50 patients), bone demineralization (30), or both (12), Karim et al. (2008) identified heterozygous mutations in the SLC9A3R1 gene (604990.0001-604990.0003). In vitro studies indicated that the mutations had ...