Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Hypophosphatemic rickets with hypercalciuria

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.

Symptoms

Hypercalciuria
Hypercalciuria is a cardinal symptom in HHRH and typically accompanied by bone deformations.

Systematic

Disorders of the renal phosphate transporters
Hypophosphatemic rickets with hypercalciuria
SLC34A3
Idiopathic basal ganglia calcification 1
Nephrolithiasis/osteoporosis, hypophosphatemic, 1
Nephrolithiasis/osteoporosis, hypophosphatemic, 2

References:

1.

McPherson JD et al. (1997) High resolution mapping of the renal sodium-phosphate cotransporter gene (NPT2) confirms its localization to human chromosome 5q35.

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2.

Dowdle WE et al. (2011) Disruption of a ciliary B9 protein complex causes Meckel syndrome.

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3.

Town T et al. (2008) The stumpy gene is required for mammalian ciliogenesis.

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4.

Momoi T et al. (1992) Short stature with normal growth hormone and elevated IGF-I.

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5.

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.

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6.

Bierich JR et al. (1984) Pseudopituitary dwarfism due to resistance to somatomedin: a new syndrome.

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7.

Kaplowitz PB et al. (1984) Stimulation by somatomedin-C of aminoisobutyric acid uptake in human fibroblasts: a possible test for cellular responsiveness to somatomedin.

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8.

Lanes R et al. (1980) Dwarfism associated with normal serum growth hormone and increased bioassayable, receptorassayable, and immunoassayable somatomedin.

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9.

Hattori Y et al. (1996) Decreased insulin-like growth factor I receptor expression and function in immortalized African Pygmy T cells.

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10.

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.

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11.

NCBI article

NCBI 80776 external link
12.

OMIM.ORG article

Omim 270450 external link
Update: Aug. 14, 2020
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