MCID: FML155
MIFTS: 13

Familial Acute Myeloid Leukemia with Mutated Cebpa malady

Genetic diseases category

Summaries for Familial Acute Myeloid Leukemia with Mutated Cebpa

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21Genetics Home Reference, 19GeneReviews, 32MalaCards
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Genetics Home Reference:21 Familial acute myeloid leukemia with mutated CEBPA is one form of a cancer of the blood-forming tissue (bone marrow) called acute myeloid leukemia. In normal bone marrow, early blood cells called hematopoietic stem cells develop into several types of blood cells: white blood cells (leukocytes) that protect the body from infection, red blood cells (erythrocytes) that carry oxygen, and platelets (thrombocytes) that are involved in blood clotting. In acute myeloid leukemia, the bone marrow makes large numbers of abnormal, immature white blood cells called myeloid blasts. Instead of developing into normal white blood cells, the myeloid blasts develop into cancerous leukemia cells. The large number of abnormal cells in the bone marrow interferes with the production of functional white blood cells, red blood cells, and platelets.

MalaCards: Familial Acute Myeloid Leukemia with Mutated Cebpa, also known as cebpa-dependent familial acute myeloid leukemia, is related to pelger-huet anomaly. An important gene associated with Familial Acute Myeloid Leukemia with Mutated Cebpa is CEBPA (CCAAT/enhancer binding protein (C/EBP), alpha). Affiliated tissues include myeloid, bone marrow and bone.

GeneReviews summary for cebpa-aml

Aliases & Classifications for Familial Acute Myeloid Leukemia with Mutated Cebpa

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19GeneReviews, 20GeneTests, 21Genetics Home Reference
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Classifications:

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Global: Genetic diseases


Aliases & Descriptions:

familial acute myeloid leukemia with mutated cebpa 19 20 21
cebpa-dependent familial acute myeloid leukemia 19 21
familial acute myeloid leukaemia 21


Related Diseases for Familial Acute Myeloid Leukemia with Mutated Cebpa

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Diseases related to Familial Acute Myeloid Leukemia with Mutated Cebpa via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1pelger-huet anomaly10.2

Clinical Features for Familial Acute Myeloid Leukemia with Mutated Cebpa

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Drugs & Therapeutics for Familial Acute Myeloid Leukemia with Mutated Cebpa

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Genetic Tests for Familial Acute Myeloid Leukemia with Mutated Cebpa

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Genetic tests related to Familial Acute Myeloid Leukemia with Mutated Cebpa:

id Genetic test Affiliating Genes
1 Familial Acute Myeloid Leukemia (aml) with Mutated Cebpa20 CEBPA

Anatomical Context for Familial Acute Myeloid Leukemia with Mutated Cebpa

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32MalaCards
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MalaCards organs/tissues related to Familial Acute Myeloid Leukemia with Mutated Cebpa:

32
Myeloid, Bone marrow, Bone

Animal Models for Familial Acute Myeloid Leukemia with Mutated Cebpa or affiliated genes

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Publications for Familial Acute Myeloid Leukemia with Mutated Cebpa

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Articles related to Familial Acute Myeloid Leukemia with Mutated Cebpa:

idTitleAuthorsYear
1
Another pedigree with familial acute myeloid leukemia and germline CEBPA mutation. (18946494)
2009
2
Somatic CEBPA mutations are a frequent second event in families with germline CEBPA mutations and familial acute myeloid leukemia. (18768433)
2008
3
Familial Acute Myeloid Leukemia (AML) with Mutated CEBPA (20963938)
1993

Genetic Variations for Familial Acute Myeloid Leukemia with Mutated Cebpa

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Expression for genes affiliated with Familial Acute Myeloid Leukemia with Mutated Cebpa

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Familial Acute Myeloid Leukemia with Mutated Cebpa

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Pathways for genes affiliated with Familial Acute Myeloid Leukemia with Mutated Cebpa

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Compounds for genes affiliated with Familial Acute Myeloid Leukemia with Mutated Cebpa

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GO Terms for genes affiliated with Familial Acute Myeloid Leukemia with Mutated Cebpa

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Products for genes affiliated with Familial Acute Myeloid Leukemia with Mutated Cebpa

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Sources for Familial Acute Myeloid Leukemia with Mutated Cebpa

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet