Disorder "Hereditary hypophosphatemic rickets with hypercalciuria"
Found 1 record
Disorder information
Disorder name:
Hereditary hypophosphatemic rickets with hypercalciuria
Disoder ID:
OMIM entry:
Synonyms:
hypercalciuric hypophosphatemic rickets, hereditary hypophosphatemic rickets with hypercalciuria, HHRH, hypophosphatemic hypercalciuric rickets
Definition:
A rickets that has_material_basis_in increased serum 1,25-dihydroxyvitamin d levels and increased intestinal calcium absorption and is characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histologic evidence of rickets, limb deformities, muscle weakness, and bone pain.
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Penetrance(1)
Modifier effect:
Altered incidence(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| SLC34A3 | SLC34A3:rs28407527 | Penetrance | Altered incidence | Pedigree analysis | The mutation in heterozygosis likely gave rise to a mild phenotype with different penetrance in the three relativesmore | more |
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