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Rare diseases, the complete list and the incidence in Italy

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How many rare diseases are there? Let's see the list and what is the situation in Italy according to data from the Istituto Superiore di Sanità.

Worldwide, more than 10,000 rare diseases have been established and, in part, known. Therefore, compiling a complete list is almost impossible. However, we can take a look at the list of the most common pathologies and at the incidence data made public by the Istituto Superiore di Sanità.

Rare diseases: the complete list

Rare diseases are defined as those pathologies which, in a given population, are present within a fixed number. In the European Union, for example, the maximum threshold is 0.5% of the inhabitants, i.e. no more than 1 case for every 2,000 people. Worldwide, there are an estimated more than 10,000 known and diagnosed rare diseases , so it is impossible to make an exhaustive list. As if that weren't enough, according to experts, this number is destined to grow thanks to the progress of genetic research.

According to the Orphanet Italia network, there are around 2 million patients in Italy with a rare disease, 70% of whom are under the age of 14. Below is the A to Z list of the most common rare diseases:

  • Adrenoleukodystrophy
  • Neuronal ceroid lipofuscinosis (Batten disease)
  • Cytomegalovirus in pregnancy
  • AADC deficiency
  • Lysosomal Acid Lipase Deficiency
  • Corneal limbal tissue deficiency
  • Haemophilia
  • Epilepsy
  • Idiopathic Pulmonary Fibrosis (IPF)
  • Familial hypercholesterolaemia (FH)
  • Primary hyperoxaluria
  • Pulmonary arterial hypertension
  • Lipodystrophy
  • Charcot-Marie-Tooth disease
  • Fabry disease
  • Gaucher disease
  • Pompe disease
  • Autoimmune liver disease
  • Metabolic diseases
  • Dravet syndrome

Rare diseases, from A to Z

  • Distal renal tubular acidosis
  • Acromegaly
  • Albinism
  • Alpha-mannosidosis
  • Algodystrophy
  • Amyloidosis
  • Cardiac amyloidosis
  • Hereditary angioedema
  • Friedreich's ataxia
  • Spinal Muscular Atrophy (SMA)
  • Nephropathic cystinosis
  • Alpha-1-Antitrypsin deficiency
  • Pyruvate kinase deficiency
  • Duchenne muscular dystrophy
  • Paroxysmal Nocturnal Hemoglobinuria
  • Epidermolysis Bullosa
  • Phenylketonuria (PKU)
  • Cystic fibrosis
  • Immunodeficiencies
  • Hypophosphatasia
  • Histiocytosis
  • Metachromatic leukodystrophy
  • Lymphangioleiomyomatosis (LAM)
  • Hereditary lymphoedema
  • MPS I – Mucopolysaccharidosis I
  • MPS II – Hunter syndrome
  • MPS III – Sanfilippo syndrome
  • MPS IV – Morquio syndrome
  • MPS VI – Maroteaux-Lamy syndrome
  • MPS VII – Sly's disease
  • Macrodactyly
  • GNAO1-related disease
  • Nontuberculous mycobacterial lung disease
  • Dupuytren's disease
  • Huntington's disease
  • Kennedy disease
  • Lyme disease
  • Niemann-Pick disease
  • Still's disease
  • Wilson's disease
  • von Willebrand disease
  • Rare diseases of the retina
  • Myasthenia gravis
  • Narcolepsy
  • Neurofibromatosis
  • Multifocal Motor Neuropathy (MMN)
  • Leber Hereditary Optic Neuropathy (LHON)
  • Pudendal neuralgia
  • Osteogenesis imperfecta
  • Chronic Inflammatory Demyelinating Polyneuropathy (CIDP)
  • Porphyria
  • Acquired thrombotic thrombocytopenic purpura
  • Pseudo-Chronic Intestinal Obstruction
  • Generalized pustular psoriasis
  • Purpura fulminans
  • Hypophosphatemic rickets
  • Amyotrophic Lateral Sclerosis (ALS)
  • Systemic sclerosis
  • Multiple Chemical Sensitivity (MCS)
  • Atypical Hemolytic Uremic Syndrome
  • Familial chylomicronemia syndrome
  • Chronic Fatigue Syndrome
  • Fragile X Syndrome
  • Alport syndrome
  • Angelman syndrome
  • Cushing's syndrome
  • Guillain-Barré syndrome
  • Lennox-Gastaut syndrome
  • Marfan syndrome
  • Ondine syndrome
  • Prader-Willi syndrome
  • Rett syndrome
  • Williams syndrome
  • Periodic fever syndromes
  • Thalassemia
  • Immune thrombocytopenia
  • Vasculitis.
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Rare pathologies: what is the situation in Italy?

After seeing the alphabetical list, let's see what the situation is in Italy. According to the data made available by the Istituto Superiore di Sanità (ISS) in the National Register of Rare Diseases, there are 20 cases of rare diseases for every 10,000 inhabitants. Consequently, every year there are about 19,000 new patients reported by over 200 healthcare facilities spread throughout our territory. It is not said that a rare disease is automatically a serious disease .

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