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AJAX progress indicator

  • b

  • BMPs
    BMPs or Bone Morphogenetic Proteins are a family of proteins involved in bone growth among other activities in the body. In the presence of the mutated gene ALK2/ACVR1, changes occur in how certain BMPs function and this leads to extra bone growth in places where it should not be present.1,2

  • c

  • Constitutive activation
    The constitutive activation of a receptor puts a receptor in a permanently active (signaling) state even in the absence of a ligand (molecule that stimulates a receptor).3

  • e

  • Endochondral
    Situated or occurring within cartilage. Endochondral ossification is the process by which growing cartilage is systematically replaced by bone to form the growing skeleton.4

  • f

  • Flare-up
    A flare-up typically describes a sudden appearance or worsening of the symptoms of a disease or condition. Patients with FOP experience sporadic and unpredictable episodes of soft‐tissue swelling, pain, reduced movement, stiffness and warmth, referred to as ‘flare‐ups’.5

  • g

  • Gain-of-function mutation
    This is a mutation that causes new or enhanced function of protein encoded by the mutated gene.6

  • h

  • Hallux valgus
    The medical name for a bunion, a deformity of the big or great toe.7
  • Heterotopic ossification
    Heterotopic ossification or HO is the presence of bone where bone should normally not exist.8

  • j

  • Juvenile fibromatosis
    Juvenile fibromatosis is a rare, autosomal-recessive disease characterized by papular and nodular skin lesions, gingival hyperplasia, joint contractures and bone involvement in variable degrees.9

  • k

  • Klippel-Feil syndrome
    Klippel-Feil syndrome is a bone disorder characterized by the abnormal fusion of two or more spinal bones in the neck (cervical vertebrae). The vertebral fusion is present from birth.10

  • m

  • Missense Mutation
    A missense mutation is a mistake in the DNA where one of the DNA base pairs is changed.11
  • Myositis ossificans
    The formation of bone tissue inside muscle tissue after a traumatic injury to the area. This injury is usually the result of an acute deep-muscle bruise or repeated muscular trauma.12

  • p

  • Phosphorylation
    A process in which a phosphate group is added to a receptor or protein. Phosphorylation of a receptor or protein can increase or decrease its activity.13

  • r

  • R206H
    A heterozygous mutation (617G®A) in the glycine-serine (GS) activation domain of the ALK2/ACVR1 gene, responsible for FOP.14

  • s

  • Spontaneous mutation
    A mutation arising naturally by chance and is not inherited.15

  • u

  • Ultra-rare
    A disease like FOP is considered ultra-rare if it affects fewer than 100 patients in a population of 1 million (or 1 in 10,000).16

  • w

  • Wild type
    Wild-type refers to the phenotype of the typical form of a gene or a protein.17

References:

1. Katagiri T. Trends Biochem Sci 2016;41:119–121. 2. Wolken DM et al. Bone 2018;109:210–217. 3. Constitutive Activity. Springer Link Encyclopedia of Psychopharmacology. Available at: link.springer.com/referenceworkentry/10.1007%2F978-3-540-68706-1_692. Accessed February 2021. 4. Endochondral Ossification. Encyclopedia of Immunobiology 2016. Available at: www.sciencedirect.com/topics/veterinary-science-and-veterinary-medicine/endochondral-ossification. Accessed February 2021.
5. Pignolo RJ et al. J Bone Miner Res 2016;31:650–656. 6. Griffiths AJF et al. An Introduction to Genetic Analysis. 7th edition. New York: W. H. Freeman; 2000. Mutant types. Available at: www.ncbi.nlm.nih.gov/books/NBK22011/. Accessed February 2021. 7. Hallux Valgus. Medical Dictionary by Farlex. Available at: medical-dictionary.thefreedictionary.com/hallux+valgus. Accessed February 2021. 8. Physiopedia. Available at: www.physio-pedia.com/Heterotopic_Ossification. Accessed February 2021. 9. Iatrogenic. Merriam-Webster dictionary. Available at: www.merriam-webster.com/dictionary/iatrogenic. Accessed February 2021. 10. Children’s Hospital of Philadelphia. Available at: tinyurl.com/2lz6ph8w. Accessed February 2021.
11. What kinds of gene mutations are possible? GHR. Available at: ghr.nlm.nih.gov/primer/mutationsanddisorders/possiblemutations. Accessed February 2021.
12. Marshfield Clinic Health System. Available at: tinyurl.com/143n6ifh. Accessed February 2021. 13. Phosphorylation. Medical Dictionary by Farlex. Available at: medical-dictionary.thefreedictionary.com/phosphorylation. Accessed February 2021. 14. Shore EM et al. Nat Genet 2006;38:525–7. 15. Spontaneous mutation. Medical Dictionary by Farlex. Available at: medical-dictionary.thefreedictionary.com/spontaneous+mutation. Accessed February 2021. 16. EMA. Orphan regulation evaluation. Available at: ec.europa.eu/health/sites/health/files/files/paediatrics/docs/orphan-regulation_eval_swd_2020-163_part-1.pdf. Accessed February 2021. 17. Wild Type. Medical Dictionary by Farlex. Available at: medical-dictionary.thefreedictionary.com/wild+type. Accessed February 2021.

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Ipsen The information provided here is not intended to replace professional advice. This website has been developed by Ipsen in collaboration with those living with Fibrodysplasia Ossificans Progressiva and the healthcare professionals who care for them. Ipsen would like to thank everyone for their valuable insights and stories. All names used on this website are not necessarily real names. Visit our website for more information about us, or to contact us directly. Website design and development by Kanga Health Ltd. Website reference DM-0350 NON-US-002452 July 2021