Table 3.
National Incidence rates of most incident rare diseases and rare disease groups monitored by RNMR in the Italian population. Yearly average in the three-year period 2012–2014.
| ORPHA Code | Disease Name | National Incidence (/Million) |
|---|---|---|
| 156,071 | Keratoconus | 25.53 |
| 803 | Amyotrophic lateral sclerosis | 19.15 |
| 870 | Down syndrome | 7.76 |
| 169,615 | Idiopathic central precocious puberty | 7.33 |
| - | Lichen sclerosus | 5.92 |
| - | Bullous pemphigoid | 4.88 |
| 930 | Idiopathic achalasia | 4.63 |
| 117 | Behçet disease | 4.57 |
| - | Arnold-Chiari malformation | 4.19 |
| 2932 | Chronic inflammatory demyelinating polyneuropathy | 3.77 |
| - | Pemphigus vulgaris | 3.75 |
| - | Klinefelter syndrome | 3.75 |
| 397 | Giant cell arteritis | 3.73 |
| 399 | Huntington disease | 3.38 |
| 37,202 | Interstitial cystitis | 3.19 |
| 881 | Turner syndrome | 2.53 |
| 98,249 | Ehlers-Danlos syndrome | 2.43 |
| 774 | Hereditary hemorrhagic telangiectasia | 2.36 |
| 2331 | Kawasaki disease | 2.08 |
| 732 | Polymyositis | 1.95 |
| 733 | Familial adenomatous polyposis | 1.90 |
| 183 | Churg-Strauss syndrome | 1.88 |
| 221 | Dermatomyositis | 1.87 |
| 809 | Mixed connective tissue disease | 1.80 |
| 558 | Marfan syndrome | 1.79 |
| 900 | Wegener granulomatosis | 1.77 |
| - | Mixed cryoglobulinemia | 1.75 |
| - | Idiopathic torsion dystonia | 1.46 |
| - | Rheumatic endocarditis | 1.36 |
| 761 | Henoch-Schönlein purpura | 1.35 |
| 648 | Noonan syndrome | 1.30 |
| 805 | Tuberous sclerosis | 1.18 |
| 908 | Fragile X syndrome | 1.15 |
| 2911 | Poland syndrome | 1.14 |
| 727 | Microscopic polyangiitis | 1.14 |
| 171 | Primary sclerosing cholangitis | 1.03 |
| 904 | Williams syndrome | 0.98 |
| 2073 | Narcolepsy | 0.97 |
| 478 | Kallmann syndrome | 0.94 |
| 96,346 | Anorectal malformation | 0.93 |
| 388 | Hirschsprung disease | 0.88 |
| 790 | Retinoblastoma | 0.83 |
| 91,378 | Hereditary angioedema | 0.81 |
| 104 | Leber hereditary optic neuropathy | 0.79 |
| 739 | Prader-Willi syndrome | 0.78 |
| 70,590 | Infantile apnea | 0.78 |
| 116 | Beckwith-Wiedemann syndrome | 0.76 |
| 550 | MELAS | 0.73 |
| 49,041 | Retroperitoneal fibrosis | 0.72 |
| 3451 | West syndrome | 0.70 |
| Disease Group Name | ||
| - | Hereditary coagulation defects | 25.16 |
| - | Undifferentiated connective tissue syndromes | 17.75 |
| - | Hereditary retinic dystrophies | 17.60 |
| - | Hereditary anemias | 15.04 |
| - | Neurofibromatoses | 10.08 |
| - | Muscular dystrophies | 8.12 |
| - | Congenital alterations of iron metabolism | 8.04 |
| - | Disturbances of aminoacid transport and metabolism | 7.92 |
| - | Chromosomal duplication/deficiency syndromes | 7.82 |
| - | Hereditary neuropathies | 6.61 |