Rare Disease Day: Top 20 Rare Diseases In The World (2022)

By Neha Ghosh

Rare Disease Day is observed on February 28. The main objective of observing this day is to increase the awareness of the general public about rare diseases and their impact on people's lives [1] . The campaign also targets the decision makers, public authorities, researchers, health professionals and industry representatives.

1 in 20 people lives with a rare disease at some point in their life. The campaign first started out as a European event and then other countries like the USA, Spain, etc., followed suit.

What Is A Rare Disease?

Rare disease refers to those diseases which affect only a very small number of the population. The diseases are low in prevalence and differ from person to person. It is estimated that 80 per cent of these disorders are of genetic origin, and 75 per cent have neurological symptoms [2] .

Top 20 Rare Diseases

1. Progeria

It is a rare disorder which is characterized by rapid ageing in childhood. It is caused by a mutation in the gene called lamin A (LMNA). This gene produces lamin A protein which is the structural exterior that holds the nucleus of a cell together. When the gene is defective, the lamin A produces progerin that makes the cells unstable, leading to progeria [3] .

2. Fields' disease

It is a neuromuscular disease which lets your body muscles and nerves deteriorate, causing a restriction in movement. The disease affects the nerves, causing your body to make involuntary muscle movements such as trembling in the hands[4] . Fields' disease is named after the twins, Kristie Fields and Catherine Fields.

3. Fibrodysplasia ossificans progressiva

It is a disorder in which connective tissues and muscle tissues are replaced by bone formation outside the skeleton that constrains movement. This causes the inability to move your joints and have difficulty in speaking and eating. Fibrodysplasia ossificans progressiva is caused due to a mutation of the gene called ACVR1 [5] .

4. Morgellons

Morgellons is another uncommon and unexplained condition characterized by small fibres emerging from the skin sores. A few researchers analyzed the structure of the fibres and they collected a series of blue and red filaments taken from the calluses of four women who had been diagnosed with Morgellons. These filaments contained keratin, collagen and other proteins from the body [6] .

5. Paraneoplastic pemphigus

It is an autoimmune disorder which is caused when the body produces antibodies that damage the cells and mucous membranes, thereby causing blisters and sores on the skin [7] . Normally, the body produces antibodies to fight off against germs but in this condition, the antibodies mistake the cells to be invaders and kill them.

6. Microcephaly

Microcephaly is a medical condition in which a baby's head is much smaller than usual, often because of abnormal brain development that occurs in the womb. The condition is detected at birth and is caused by a variety of genetic and environmental factors [8] . There is no treatment for microcephaly, but therapies can aid in the development of the child.

7. Von Hippel-Lindau disease (VHL)

Von Hippel-Lindau is a genetic disease that causes the growth of tumours and cysts in the body [9] . The tumours are usually non-cancerous which grow in your kidneys, pancreas, adrenal glands, spinal cord, brain and the reproductive tract. However, when tumours grow in the pancreas and kidneys, they can lead to cancer.

8. Methemoglobinemia

Methemoglobinemia is a blood disorder which occurs when very less amount of oxygen is transported to the cells[10] . Haemoglobin is a protein responsible for carrying oxygen to the cells and other parts of the body. But another type of haemoglobin called the methemoglobin carries oxygen to the blood which isn't released into the cells. When too much of methemoglobin is produced, it can replace the normal haemoglobin, resulting in very less oxygen transported to the cells.

9. Necrotizing fasciitis

Necrotizing fasciitis is a soft tissue infection caused by group A streptococcus bacteria. This bacteria is quite dangerous as they progress faster to destroy the tissues in the skin, muscles and subcutaneous tissues [11] . The bacteria enter the body through, cuts, scrapes or surgical wounds.

10. Wolman disease

Wolman disease is a rare genetic disorder that is caused by a mutation in the lysosomal acid lipase gene (LIPA or LAL). The lysosomal acid lipase gene produces an enzyme that helps in the breakdown of fat in the body [12] . If the enzyme isn't working properly, the fats start accumulating and cause damage to the organs and tissues in the body.

11. Kawasaki disease

It is a rare illness that causes inflammation in the arteries, veins and capillaries [13] . Kawasaki disease is the most common cause of heart disease in children according to the National Institute of Health. The exact cause of the disease is unknown, however, researchers believe that a combination of genetic and environmental factors cause Kawasaki disease.

12. Myasthenia gravis

It is a rare neuromuscular disorder that weakens the skeletal muscles. It occurs when the immune system mistakenly attacks the healthy cells including the neuromuscular membrane. Damage to the neuromuscular membrane lowers the effect of the neurotransmitter substance acetylcholine, which acts as a means of communication between the nerve cells and muscles [14] .

13. Huntington's disease

It is a genetic neurodegenerative disorder that causes the progressive breakdown of nerve cells in the brain[15] . Huntington's disease impacts the movement, cognitive and psychiatric disorders with a wide range of symptoms which develop usually in the 30s or 40s. When the disease develops earlier in life before the age of 20, the condition is called juvenile Huntington's disease.

14. Urea cycle disorders

It is a group of rare inherited metabolic disorders that affect newborn babies [16] . It occurs when the baby's body is unable to remove the waste products as he/she digests proteins. When a child is consuming proteins, his/her body breaks it down into amino acids and are used as required. But in urea cycle disorder, the protein is broken down more than the required and the waste products aren't eliminated.

15. ABCD syndrome

ABCD (Albinism, Black lock, Cell migration disorder of the neurocytes of the gut, and Deafness) syndrome is a rare genetic disorder that affects intestinal function, hair colour and skin colour [17] . The syndrome causes a person to have lighter hair and skin than their parents. The dysfunction of the gut is the most serious concern of the condition which causes poor weight gain, abnormal bowel movements and poor nutrition.

16. Prune belly syndrome

Prune belly syndrome is a rare condition which affects babies. It is characterized by severe weakness of the muscles in the stomach, problems with the urinary system and the baby's testicles fail to drop from inside the body into the scrotum. Prune belly syndrome affects 1 in every 30,000 to 40,000 babies [18] .

17. Fragile x syndrome

It is a genetic condition that causes developmental problems including cognitive impairment and learning disabilities. It is mainly caused by a mutation of the FMR1 gene [19] . Fragile x syndrome is common in male children and affects the development of speech and language by age 2. Children also experience anxiety and hyperactive behaviour.

18. Cat eye syndrome

Cat eye syndrome is a rare chromosomal disorder that affects different parts of the body. The symptoms of the syndrome include abnormalities of the eyes, anal region, ears, heart and kidney[20] . It is named cat eye syndrome because of the most common symptom that resembles a cat's eye due to a hole in the iris.

19. Neurofibromatosis

Neurofibromatosis is a genetic disorder of the nervous system that largely affects the development and growth of nerve cells. It causes benign tumours in the nerves to develop in various parts of the body leading to signs of neurological problems. These include impaired cognitive skills, optic nerve tumour, bone deformities, etc [21] .

20. Lupus

Lupus is an autoimmune disease that allows the immune system to attack healthy organs and tissues. Lupus causes inflammation in the kidneys, heart, lungs, brains, blood cells, joints and skin. The disease occurs from a combination of genetic and environmental factors [22] .

View Article References

  1. [1] Plaiasu, V., Nanu, M., & Matei, D. (2010). Rare Disease Day - at a glance. Maedica, 5(1), 65-66.
  2. [2] No Author, Rare Advances For Rare Diseases, The Lancet Neurology, Vol 16 January 2017. Retrieved from https://www.thelancet.com/pdfs/journals/laneur/PIIS1474-4422(16)30352-0.pdf
  3. [3] Sinha, J. K., Ghosh, S., & Raghunath, M. (2014). Progeria: a rare genetic premature ageing disorder. The Indian journal of medical research, 139(5), 667-674.
  4. [4] Bishop, S. C., Doeschl-Wilson, A. B., & Woolliams, J. A. (2012). Uses and implications of field disease data for livestock genomic and genetics studies. Frontiers in genetics, 3, 114.
  5. [5] Hashemi, J., Shahfarhat, A., & Beheshtian, A. (2011). Fibrodysplasia ossificans progressiva: report of a case and review of articles. Iranian journal of radiology : a quarterly journal published by the Iranian Radiological Society, 8(2), 113-117.
  6. [6] Middelveen, M. J., Mayne, P. J., Kahn, D. G., & Stricker, R. B. (2013). Characterization and evolution of dermal filaments from patients with Morgellons disease. Clinical, cosmetic and investigational dermatology, 6, 1-21.
  7. [7] Wieczorek, M., & Czernik, A. (2016). Paraneoplastic pemphigus: a short review. Clinical, cosmetic and investigational dermatology, 9, 291-295.
  8. [8] DeSilva, M., Munoz, F. M., Sell, E., Marshall, H., Tse Kawai, A., Kachikis, A., Heath, P., Klein, N. P., Oleske, J. M., Jehan, F., Spiegel, H., Nesin, M., Tagbo, B. N., Shrestha, A., Cutland, C. L., Eckert, L. O., Kochhar, S., Bardají, A., Brighton Collaboration Congenital Microcephaly Working Group (2017). Congenital microcephaly: Case definition & guidelines for data collection, analysis, and presentation of safety data after maternal immunisation. Vaccine, 35(48 Pt A), 6472-6482.
  9. [9] Jonasch, E., Gombos, D. S., Waguespack, S. G., Marcott, V., Liu, D. D., Weldon, J. A., ... & Fuller, G. (2017). Phase II study of pazopanib in patients with von Hippel-Lindau disease.
  10. [10] Rehman H. U. (2001). Methemoglobinemia. The Western journal of medicine, 175(3), 193-196.
  11. [11] Singh, G., Bharpoda, P., & Reddy, R. (2013). Necrotizing Fasciitis: A Study of 48 Cases. The Indian journal of surgery, 77(Suppl 2), 345-350.
  12. [12] Kyriakides, E. C., Filippone, N., Paul, B., Grattan, W., & Balint, J. A. (1970). Lipid studies in Wolman's disease. Pediatrics, 46(3), 431-436.
  13. [13] Jamieson, N., & Singh-Grewal, D. (2013). Kawasaki disease: a clinician’s update. International journal of pediatrics, 2013.
  14. [14] Singhal, B. S., Bhatia, N. S., Umesh, T., & Menon, S. (2008). Myasthenia gravis: a study from India. Neurology India, 56(3), 352.
  15. [15] Kremer, B., Goldberg, P., Andrew, S. E., Theilmann, J., Telenius, H., Zeisler, J., ... & Bird, T. D. (1994). A worldwide study of the Huntington's disease mutation: the sensitivity and specificity of measuring CAG repeats. New England Journal of Medicine, 330(20), 1401-1406.
  16. [16] Batshaw, M. L., Tuchman, M., Summar, M., Seminara, J., & Urea Cycle Disorders Consortium. (2014). A longitudinal study of urea cycle disorders. Molecular genetics and metabolism, 113(1-2), 127-130.
  17. [17] Verheij, J. B., Kunze, J., Osinga, J., van Essen, A. J., & Hofstra, R. M. (2002). ABCD syndrome is caused by a homozygous mutation in the EDNRB gene. American journal of medical genetics, 108(3), 223-225.
  18. [18] Samal, S. K., & Rathod, S. (2015). Prune Belly syndrome: A rare case report. Journal of natural science, biology, and medicine, 6(1), 255-257.
  19. [19] Bakker, C. E., Verheij, C., Willemsen, R., van der Helm, R., Oerlemans, F., Vermey, M., ... & De Boule, K. (1994). Fmr1 knockout mice: a model to study fragile X mental retardation. Cell, 78(1), 23-33.
  20. [20] Sharma, D., Murki, S., Pratap, T., & Vasikarla, M. (2014). Cat eye syndrome. BMJ case reports, 2014, bcr2014203923.
  21. [21] Boyd, K. P., Korf, B. R., & Theos, A. (2009). Neurofibromatosis type 1. Journal of the American Academy of Dermatology, 61(1), 1-14; quiz 15-16.
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