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Disease name
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비타민 D 저항성 구루병
Vitamine-D-resistant rickets
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Marker gene
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Gene symbol
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Chromosome location
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Protein name
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VDR
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12q13.11 |
Vitamin D3 receptor |
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CYP27B1
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12q14.1 |
25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial |
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CYP2R1
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11p15.2 |
Vitamin D 25-hydroxylase |
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DMP1
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4q21.1 |
Dentin matrix acidic phosphoprotein 1 |
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ENPP1
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6q23.2 |
Ectonucleotide pyrophosphatase/phosphodiesterase family member 1 |
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FGF23
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12p13.32 |
Fibroblast growth factor 23 |
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PHEX
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Xp22.2-p22.1 |
Phosphate-regulating neutral endopeptidase |
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SLC34A3
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9q34.3 |
Sodium-dependent phosphate transport protein 2C |
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Prevalence
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미상 |
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Inheritance
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X 연관 우성, 상염색체 우성, 상염색체 열성 |
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Age of onset
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신생아기, 영아기 |
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ICD 10 code
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E83.3 |
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MIM number
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193100
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241520
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264700
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277440
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307800
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600081
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600785
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Summary
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Vitamin D resistant rickets is defined by its resistance to the vitamin D treatment generally used in deficiency rickets. Typical signs are observed from the first months of life: radiological signs of defective mineralization on cartilage growth plates (rickets) and bones (osteomalacia) and alterations of the phosphocalcic homeostasis in spite of a satisfactory vitamin D status. The clinical phenotype combines bone deformities, mainly at the lower limbs, and other signs depending upon the etiology of the resistance (see below). Two groups of hereditary resistant rickets should be distinguished: hypophosphatemic rickets and pseudo-deficiency rickets. |
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