TABLE 4.
The distribution of patients from the “The regional list of patients with rare diseases” of the Registry as of January 1, 2018.
| No | List of rare diseases | Proportion of all patients on the Registry (%) | Proportion of children in the Registry (%) | Prevalence b per 100,000 people in Russia | Prevalence c per 100,000 people in Europe |
| 1 | Hemolytic uremic syndrome d | 2.4 | 67.0 | 0.28 | 0.1–0.9 |
| 2 | Paroxysmal nocturnal hemoglobinuria (Marchiafava-Micheli syndrom) | 2.1 | 3.1 | 0.26 | 1–9 |
| 3 | Aplastic anemia, unspecified d | 6.4 | 14.5 | 0.73 | 0.1–0.9 |
| 4 | Inherited factor II deficiency (fibrinogen), factor VII deficiency (labile), factor X deficiency (Stewart-Prauer) d | 1.3 | 38.3 | 0.15 | 0.1–0.9 |
| 5 | Immune thrombocytopenia (Evans syndrome) | 24.0 | 20.5 | 2.72 | 5–10 |
| 6 | Complement deficiency | 1.8 | 17.4 | 1–9 | |
| 7 | Central precocious puberty | 5.5 | 97.5 | 0.64 | 0.8–3.2 |
| 8 | Disorders of aromatic amino acid metabolism (classical phenylketonuria, other types of hyperphenylalaninemia) | 28.5 | 77.0 | 3.25 | 5–10 |
| 9 | Tyrosinemia a | <1 | 94.6 | 0.02 | 0.1–0.9 |
| 10 | Maple syrup disease a | <1 | 95.5 | 0.01 | 0.1–0.9 |
| 11 | Other types of amino acid metabolism disorders | <1 | 94.1 | 0.02 | 0.1–0.9 |
| Branched-chain amino acidemia (isovaleriс acidemia, methylmalonic acidemia, propionic acidemia) a | |||||
| 12 | Fatty acid metabolism disorders a | <1 | 72.3 | 0.04 | 1–9 |
| 13 | Homocystinuria a | <1 | 75.9 | 0.02 | 1–9 |
| 14 | Glutaric aciduria a | <1 | 91.1 | 0.04 | 0.1–0.9 |
| 15 | Galactosemia | 2,4 | 97.4 | 0.29 | 0.21 |
| 16 | Other sphingolipidoses: Fabry disease, Niemann-Pick disease | <1 | 32.9 | 0.10 | 1–9 |
| 17 | Mucopolysaccharidosis, type I a , d | <1 | 88.9 | 0.07 | 0.1–0.9 |
| 18 | Mucopolysaccharidosis, type II a , d | <1 | 79.7 | 0.08 | 0.9–1.6 |
| 19 | Mucopolysaccharidosis, type IV a , d | <1 | 62.3 | 0.04 | 0.1–0.9 |
| 20 | Acute intermittent (hepatic) porphyria a | <1 | 12.0 | 0.07 | 1–5 |
| 21 | Copper metabolism disorders (Wilson’s disease) | 4.7 | 12.4 | 0.55 | 1–9 |
| 22 | Osteogenesis imperfecta | 4.2 | 55.1 | 0,50 | 5–10 |
| 23 | Pulmonary (arterial) hypertension (idiopathic) (primary) | 4.3 | 17.5 | 0.51 | 1–9 |
| 24 | Systemic-onset juvenile rheumatoid arthritis d | 8.2 | 74.7 | 0.96 | 1–9 |
| Overall | 100 | 50.8 | 11.6 | – | |
a
11 diseases accounted for 4.2%.
b
Prevalence rates per 100 thousand people in the Russian Federation as of January 01, 2018 for many diseases are significantly lower than epidemiological data found in scientific publications, studies, and reviews, both in Russia and in the world as a whole.
c
Data on disease prevalence obtained from the European information system Orphanet (Orphanet Report Series, 2019).
d
Drug supply for patients with these conditions is the responsibility of the federal executive body since 2020 (Angelis et al., 2015; Chiu et al., 2018).