Inherited acute myeloid leukemia

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Inherited acute myeloid leukemia

Synonyms: Familial AML | Inherited AML | Pure familial AML | Pure familial acute myeloid leukemia

Inherited acute myeloid leukemia (AML) is a rare malignant hematopologic disease characterized by clonal proliferation of myeloid blasts primarily involving the bone marrow in association with congenital disorders (e.g. Fanconi anemia dyskeratosis congenita Bloom syndrome Down syndrome congenital neutropenia neurofibromatosis etc.) and genetic defects predisposing to AML. Patients present with signs and symptoms related to ineffective hematopoesis (fatigue bleeding and bruising recurrent infections bone pain) and/or extramedullary site involvement (gingivitis splenomegaly etc.). Depending on the underlying genetic defect there may be additional cancer risks and other health problems present.

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: // Data version September 2023.

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Advocacy Organizations

Team Telomere

A Community for Telomere Biology Disorders Our mission is to provide information and support services to families worldwide affected by Dyskeratosis Congenita and Telomere Biology Disorders, to encourage the medical community’s research in finding causes and effective treatments, and to facilitate improved diagnosis by educating medical providers.

My Faulty Gene

My Faulty Gene is a nonprofit organization which provides information and assistance to any individual whose family medical history suggests genetic testing might be helpful in identifying an increased risk of disease due to a genetic mutation. We believe that everyone in need of genetic testing should have access to it.

My Little Sunshine Foundation

My Little Sunshine is a non-profit foundation dedicated to educating people about the importance of fertility preservation and making fertility resources accessible to all.


Educate and provide resources to POC with Rare Cancers

Youth and Women for Opportunities Uganda-YWOU

Youth and Women for Opportunities-YWOU an organization that we represent is patient organization re-presentative, patient and institution and individual capacity builder supporting PLWRD’s to obtain diagnosis, treatment and drugs for those suffering consequences of being undiagnosed or misdiagnosed and lack treatment and those who lack precise diagnosis for rare, orphan and undiagnosed diseases preventing PLWRD’s accessing the most adapted care, treatment or surgery, have delayed access to the most appropriate care, treatment or surgery

Clinical Trials

For a list of clinical trials in this disease area, please click here.