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Fibrodysplasia ossificans progressiva (/ ˌ f aɪ b r oʊ d ɪ ˈ s p l eɪ ʒ (i) ə ɒ ˈ s ɪ f ɪ k æ n z p r ə ˈ ɡ r ɛ s ɪ v ə /; [1] abbr. FOP), also called Münchmeyer disease or formerly myositis ossificans progressiva, is an extremely rare connective tissue disease in which fibrous connective tissue such as muscle, tendons, and ligaments turn into bone tissue (ossification).
The second condition, myositis ossificans progressiva (also referred to as fibrodysplasia ossificans progressiva) is an inherited affliction, autosomal dominant pattern, in which the ossification can occur without injury, and typically grows in a
In 2006, Shore and Kaplan discovered the cause of FOP, publishing their findings as "A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva". [6] The cause of the disease was traced to a single mutation in the activin A receptor, type I gene. [7]
The International Fibrodysplasia Ossificans Progressiva Association (IFOPA) is a US-based 501(c)(3) non-profit organization supporting medical research, education and communication for those afflicted by the rare genetic condition Fibrodysplasia Ossificans Progressiva (FOP). IFOPA's mission is to fund research to find a cure for FOP while ...
In 2006, Shore and Kaplan published their findings on the genetic mutation that causes FOP [5] as a paper entitled "A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva". [6] The cause of the disease was traced to a single mutation in the activin A receptor, type I gene. [5]
Harry Raymond Eastlack, Jr. (17 November 1933 – 11 November 1973) was the subject of the most recognized case of fibrodysplasia ossificans progressiva (FOP) from the 20th century. His case is also particularly acknowledged, by scientists and researchers, for his contribution to medical advancement.
While knockout models with this gene are in progress, the ACVR1 gene has been connected to fibrodysplasia ossificans progressiva, an extremely rare progressive genetic disease characterized by heterotopic ossification of muscles, tendons, and ligaments. [7] It is a bone morphogenetic protein receptor, type 1.
Fibrodysplasia may refer to: Fibrodysplasia ossificans progressiva, a rare disease in which fibrous tissue becomes ossified; Fibromuscular dysplasia, a disease characterized by the fibrous thickening of the renal artery; Fibrous dysplasia, a disease that causes growths or lesions in one or more bones of the human body