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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Inherited acute myeloid leukemia?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
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.
The RUNX1 Research Program
At the RUNX1 Research Program, our mission is to improve the quality of life and prevent cancer in patients with RUNX1-FPD. We do this by promoting awareness and funding world-class collaborative research with an empowered patient community.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
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.
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
For a list of clinical trials in this disease area, please click here.