Hypercalciuric rickets is an autosomal recessive disorder caused by mutations of the SLC34A3 gene. It is characterized by disturbed bode development as a result of hypophosphatemia and hypercalciuria.
Hypercalciuria is a cardinal symptom in HHRH and typically accompanied by bone deformations.
|Disorders of the renal phosphate transporters|
|Hypophosphatemic rickets with hypercalciuria|
|Idiopathic basal ganglia calcification 1|
|Nephrolithiasis/osteoporosis, hypophosphatemic, 1|
|Nephrolithiasis/osteoporosis, hypophosphatemic, 2|
McPherson JD et al. (1997) High resolution mapping of the renal sodium-phosphate cotransporter gene (NPT2) confirms its localization to human chromosome 5q35.
Dowdle WE et al. (2011) Disruption of a ciliary B9 protein complex causes Meckel syndrome.
Town T et al. (2008) The stumpy gene is required for mammalian ciliogenesis.
Momoi T et al. (1992) Short stature with normal growth hormone and elevated IGF-I.
Tollefsen SE et al. (1991) Endogenous insulin-like growth factor (IGF) binding proteins cause IGF-1 resistance in cultured fibroblasts from a patient with short stature.
Bierich JR et al. (1984) Pseudopituitary dwarfism due to resistance to somatomedin: a new syndrome.
Kaplowitz PB et al. (1984) Stimulation by somatomedin-C of aminoisobutyric acid uptake in human fibroblasts: a possible test for cellular responsiveness to somatomedin.
Lanes R et al. (1980) Dwarfism associated with normal serum growth hormone and increased bioassayable, receptorassayable, and immunoassayable somatomedin.
Hattori Y et al. (1996) Decreased insulin-like growth factor I receptor expression and function in immortalized African Pygmy T cells.
Maghnie M et al. (1999) Growth hormone (GH) deficiency (GHD) of childhood onset: reassessment of GH status and evaluation of the predictive criteria for permanent GHD in young adults.
NCBI articleNCBI 80776
OMIM.ORG articleOmim 270450