NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1

General Information (adopted from Orphanet):

Synonyms, Signs: NPHLOP1
Number of Symptoms 10
OrphanetNr:
OMIM Id: 612286
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:0002150) Hypercalciuria 45 / 7739
2
 (HPO:0000787) Nephrolithiasis 78 / 7739
3
 (HPO:0003109) Hyperphosphaturia 18 / 7739
4
 (HPO:0000117) Renal phosphate wasting 14 / 7739
5
 (HPO:0002659) Increased susceptibility to fractures 110 / 7739
6
 (HPO:0000939) Osteoporosis 129 / 7739
7
 (HPO:0008443) Spinal deformities 5 / 7739
8
 (HPO:0000938) Osteopenia 138 / 7739
9
 (HPO:0002148) Hypophosphatemia 43 / 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 Prie et al. (2002) reported 2 unrelated patients with hypophosphatemia and decreased renal phosphate absorption. The first patient was a 34-year-old man with recurrent urolithiasis. His maximal renal phosphate resorption, normalized for GFR, was decreased at 0.47 mmol/L. ...
Molecular genetics OMIM In 2 of 20 unrelated probands with hypophosphatemic nephrolithiasis/osteoporosis, Prie et al. (2002) identified 2 different heterozygous mutations in the SLC34A1 gene (182309.0001 and 182309.0002). The study provided genetic evidence that heterozygous mutations in the SLC34A1 gene are ...