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Acute myeloid leukemia with CEBPA somatic mutations
1 associated gene
84 connected diseases
No signs/symptoms info
Disease Type of connection
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Inherited acute myeloid leukemia
Familial thoracic aortic aneurysm and aortic dissection
Acute promyelocytic leukemia
Dedifferentiated liposarcoma
Familial melanoma
Well-differentiated liposarcoma
Glucocorticoid resistance
Familial retinoblastoma
Monosomy 13q14
Unilateral retinoblastoma
Recurrent infection due to specific granule deficiency
Craniosynostosis, Boston type
Multiple endocrine neoplasia type 1
Parietal foramina
Parietal foramina with cleidocranial dysplasia
Aneurysm - osteoarthritis syndrome
Complete androgen insensitivity syndrome
Estrogen resistance syndrome
Familial hypospadias
Familial pancreatic carcinoma
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary hemorrhagic telangiectasia
Kennedy disease
Matthew-Wood syndrome
Myhre syndrome
Partial androgen insensitivity syndrome
Burkitt lymphoma
Precursor T-cell acute lymphoblastic leukemia
Autosomal dominant nonsyndromic intellectual deficit
Craniopharyngioma
Desmoid tumor
Hepatocellular carcinoma, childhood-onset
Pilomatrixoma
Angelman syndrome
Coffin-Siris syndrome
Familial rhabdoid tumor
Hereditary pheochromocytoma-paraganglioma
Intellectual deficit - sparse hair - brachydactyly
Berardinelli-Seip congenital lipodystrophy
Chronic myeloid leukemia
Familial platelet syndrome with predisposition to acute myelogenous leukemia
Isolated delta-storage pool disease
Precursor B-cell acute lymphoblastic leukemia
Acute necrotizing encephalopathy of childhood
Alexander disease type I
Alexander disease type II
Autosomal dominant macrothrombocytopenia
Bohring-Opitz syndrome
Cataract-microcornea syndrome
Cerulean cataract
Cone rod dystrophy
Cornelia de Lange syndrome
Desmoplastic small round cell tumor
Ewing sarcoma
Extraskeletal Ewing sarcoma
Extraskeletal myxoid chondrosarcoma
Familial acute necrotizing encephalopathy
Hepatic veno-occlusive disease - immunodeficiency
Hypocalcemic vitamin D-resistant rickets
Inflammatory myofibroblastic tumor
Leber congenital amaurosis
Meckel syndrome
Melanoma of soft part
Mowat-Wilson syndrome due to a point mutation
Mowat-Wilson syndrome due to monosomy 2q22
Peters anomaly
Pulverulent cataract
Romano-Ward syndrome
Translocation renal cell carcinoma
Acute myeloid leukemia
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Deafness - lymphedema - leukemia
Hyperinsulinism due to HNF1A deficiency
Kallmann syndrome
MODY syndrome
Monocytopenia with susceptibility to infections
Myelodysplastic syndromes
Neurologic Waardenburg-Shah syndrome
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Waardenburg syndrome type 2
Waardenburg-Shah syndrome
Synonym(s):
- AML with CEBPA somatic mutations
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
- Rare oncologic disease
Classification (ICD10):
- Neoplasms -
Epidemiological data:
(no data available)
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
CEBPA P49715116897
No signs/symptoms info available.