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Yang, C. Ataxia-pancytopenia Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4824 (accessed on 28 September 2026).
Yang C. Ataxia-pancytopenia Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4824. Accessed September 28, 2026.
Yang, Catherine. "Ataxia-pancytopenia Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4824 (accessed September 28, 2026).
Yang, C. (2020, December 24). Ataxia-pancytopenia Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4824
Yang, Catherine. "Ataxia-pancytopenia Syndrome." Encyclopedia. Web. 24 December, 2020.
Ataxia-pancytopenia Syndrome
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/ataxia-pancytopenia-syndrome

Ataxia-pancytopenia syndrome is a rare condition that affects the part of the brain that coordinates movement (the cerebellum) and blood-forming cells in the bone marrow. The age when signs and symptoms begin, the severity of the condition, and the rate at which it worsens all vary among affected individuals.

genetic conditions

References

  1. Chen DH, Below JE, Shimamura A, Keel SB, Matsushita M, Wolff J, Sul Y,Bonkowski E, Castella M, Taniguchi T, Nickerson D, Papayannopoulou T, Bird TD,Raskind WH. Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations inSAMD9L. Am J Hum Genet. 2016 Jun 2;98(6):1146-1158. doi:10.1016/j.ajhg.2016.04.009.
  2. Li FP, Hecht F, Kaiser-McCaw B, Baranko PV, Potter NU. Ataxia-pancytopenia:syndrome of cerebellar ataxia, hypoplastic anemia, monosomy 7, and acutemyelogenous leukemia. Cancer Genet Cytogenet. 1981 Nov;4(3):189-96.
  3. Li FP, Potter NU, Buchanan GR, Vawter G, Whang-Peng J, Rosen RB. A family withacute leukemia, hypoplastic anemia and cerebellar ataxia: association with bonemarrow C-monosomy. Am J Med. 1978 Dec;65(6):933-40.
  4. Tesi B, Davidsson J, Voss M, Rahikkala E, Holmes TD, Chiang SCC,Komulainen-Ebrahim J, Gorcenco S, Rundberg Nilsson A, Ripperger T, Kokkonen H,Bryder D, Fioretos T, Henter JI, Möttönen M, Niinimäki R, Nilsson L, Pronk CJ,Puschmann A, Qian H, Uusimaa J, Moilanen J, Tedgård U, Cammenga J, Bryceson YT.Gain-of-function SAMD9L mutations cause a syndrome of cytopenia,immunodeficiency, MDS, and neurological symptoms. Blood. 2017 Apr20;129(16):2266-2279. doi: 10.1182/blood-2016-10-743302.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Catherine Yang
View Times: 811
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020
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