MCID: FML155
MIFTS: 13

Familial Acute Myeloid Leukemia with Mutated Cebpa

Categories: Genetic diseases, Cancer diseases

Aliases & Classifications for Familial Acute Myeloid Leukemia with Mutated Cebpa

MalaCards integrated aliases for Familial Acute Myeloid Leukemia with Mutated Cebpa:

Name: Familial Acute Myeloid Leukemia with Mutated Cebpa 24 69
Cebpa-Dependent Familial Acute Myeloid Leukemia 24
Familial Acute Myeloid Leukaemia 24

Classifications:



External Ids:

UMLS 69 C3711382

Summaries for Familial Acute Myeloid Leukemia with Mutated Cebpa

Genetics Home Reference : 24 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), which are cell fragments 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 based summary : Familial Acute Myeloid Leukemia with Mutated Cebpa, also known as cebpa-dependent familial acute myeloid leukemia, is related to cebpa-associated familial acute myeloid leukemia and pelger-huet anomaly. Affiliated tissues include myeloid, bone and bone marrow.

Related Diseases for Familial Acute Myeloid Leukemia with Mutated Cebpa

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

# Related Disease Score Top Affiliating Genes
1 cebpa-associated familial acute myeloid leukemia 11.5
2 pelger-huet anomaly 9.8

Symptoms & Phenotypes for Familial Acute Myeloid Leukemia with Mutated Cebpa

Drugs & Therapeutics for Familial Acute Myeloid Leukemia with Mutated Cebpa

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Next Generation Sequencing (NGS) in Familial Acute Myeloid Leukemia and Myelodisplastic Syndromes Recruiting NCT03058588
2 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268

Search NIH Clinical Center for Familial Acute Myeloid Leukemia with Mutated Cebpa

Genetic Tests for Familial Acute Myeloid Leukemia with Mutated Cebpa

Anatomical Context for Familial Acute Myeloid Leukemia with Mutated Cebpa

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

38
Myeloid, Bone, Bone Marrow

Publications for Familial Acute Myeloid Leukemia with Mutated Cebpa

Articles related to Familial Acute Myeloid Leukemia with Mutated Cebpa:

# Title Authors Year
1
GATA2 mutations in sporadic and familial acute myeloid leukaemia patients with CEBPA mutations. ( 23560626 )
2013
2
Poor prognosis in familial acute myeloid leukaemia with combined biallelic CEBPA mutations and downstream events affecting the ATM, FLT3 and CDX2 genes. ( 20456351 )
2010
3
Familial acute myeloid leukaemia with acquired Pelger-Huet anomaly and aneuploidy of C group. ( 4508672 )
1972

Variations for Familial Acute Myeloid Leukemia with Mutated Cebpa

Expression for Familial Acute Myeloid Leukemia with Mutated Cebpa

Search GEO for disease gene expression data for Familial Acute Myeloid Leukemia with Mutated Cebpa.

Pathways for Familial Acute Myeloid Leukemia with Mutated Cebpa

GO Terms for Familial Acute Myeloid Leukemia with Mutated Cebpa

Sources for Familial Acute Myeloid Leukemia with Mutated Cebpa

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65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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