Table 2 Main characteristic of CTCD
Condition | Orpha code | Gene | Prevalence | Symptoms |
|---|---|---|---|---|
PXE | 758 | ABCC6 | 1–9/100,000 | Loss of vision, skin papules, peripheral arterial disease |
GACI | 51,608 | ENPP1 | 1/566,000 | Arterial calcification, arterial stenosis, arterial hypertension, myocardial ischemia, premature death |
PHP | 97,953 | PH1PA | 1–9/1,000,000 | Growth velocity decreasing progressively, Adult short stature, obesity, neurological impairment, advanced bone disease |
CALJA | 289,601 | NT5E | < 1/1,000,000 | Calcification of aneurysmally dilated arteries of lower extremity, intermittent claudication and limb ischemia |