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Acute myeloid leukemia with CEBPA somatic mutations
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Cataract-microcornea syndrome
3 OMIM references -
8 associated genes
9 signs/symptoms
Acute myeloid leukemia with CEBPA somatic mutations
Cataract-microcornea syndrome

CEBPA
(UniProt - OMIM)
 CRYAA
(UniProt - OMIM)
CRYBA4
(UniProt - OMIM)
CRYBB1
(UniProt - OMIM)
CRYBB2
(UniProt - OMIM)
CRYGC
(UniProt - OMIM)
CRYGD
(UniProt - OMIM)
GJA8
(UniProt - OMIM)
MAF
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
CEBPA
(0.63)
MAF


Citations in the biomedical literature:


Acute myeloid leukemia with CEBPA somatic mutations
CEBPA
Cataract-microcornea syndrome
CRYAA CRYBA4 CRYBB1 CRYBB2 CRYGC CRYGD
GJA8 MAF



Acute myeloid leukemia with CEBPA somatic mutations
Cataract-microcornea syndrome

Synonym(s):
- AML with CEBPA somatic mutations
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
No OMIM references
No MeSH references
External references:
3 OMIM references -
1 MeSH reference: C538287
Cataract-microcornea syndrome

Very frequent
- Autosomal dominant inheritance
- Autosomal recessive inheritance
- Cataract / lens opacification
- Microcornea

Frequent
- Myopia

Occasional
- Coloboma of iris
- Corneal clouding / opacity / vascularisation
- Corneal dystrophy
- Nystagmus


Acute myeloid leukemia with CEBPA somatic mutations

(no data available)