Juvenile myelomonocytic leukemia
Synonyms: JMML | Juvenile chronic myelomonocytic leukemia
A rare myelodysplastic/myeloproliferative neoplasm characterized by a proliferation primarily of granulocytic and monocytic lineages with infiltration of the liver and spleen among other organs. Blasts and promonocytes account for less than 20% of white blood cells in peripheral blood and bone marrow. Erythroid and megakaryocytic abnormalities are often present. BCR-ABL1 fusion is absent while somatic mutations in genes of the RAS pathway or monosomy 7 may be found. The condition may also occur in the context of neurofibromatosis type 1 or Noonan syndrome-like disorder. Children of less than three years are predominantly affected with a clear male preponderance. Most patients present with constitutional symptoms signs of infection and hepatosplenomegaly.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version May 2024
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Care-for-Rare America Inc
To establish a global alliance in order to identify the genetic causes of rare diseases and develop effective treatments, following a three-stage approach: recognize, understand, cure.
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My Faulty Gene
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My Little Sunshine Foundation
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Our mission supports Rare, orphan and undiagnosed diseases diagnosis, care and treatment, education, awareness and empowering health care professionals and patients care takers of rare, orphan and undiagnosed diseases arena in Uganda, build capacity and bridge lack of clinical knowledge and experience and provide search/quest for diagnostic laboratories, I advocate for changes in laws, practices
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