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Acute myeloid leukemia with CEBPA somatic mutations

1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Matthew-Wood syndrome

2 OMIM references -
2 associated genes
22 signs/symptoms

Acute myeloid leukemia with CEBPA somatic mutations

Matthew-Wood syndrome

CEBPA	(UniProt - OMIM)		RARB	(UniProt - OMIM)
			STRA6	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CEBPA	(0.75)	RARB

Citations in the biomedical literature:

Acute myeloid leukemia with CEBPA somatic mutations		Matthew-Wood syndrome
	Synonym(s): - AML with CEBPA somatic mutations		Synonym(s): - Anophthalmia - pulmonary hypoplasia - MCOPS9 - Syndromic microphthalmia type 9

	Classification (Orphanet): - Rare genetic disease - Rare hematologic disease - Rare oncologic disease		Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare respiratory disease - Rare surgical thoracic 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: before age 5 Type of inheritance: autosomal dominant

	External references: No OMIM references No MeSH references		External references: 2 OMIM references - No MeSH references

Matthew-Wood syndrome
	Very frequent - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Intellectual deficit / mental / psychomotor retardation / learning disability Frequent - Absent lobe / lung / segmentation defect / abnormal lobulation / sequestration - Congenital cardiac anomaly / malformation / cardiopathy - Diaphragmatic hernia / defect / agenesis - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Stillbirth / neonatal death Occasional - Agenesis / hypoplasia / aplasia of kidneys - Annular pancreas - Asplenia / polysplenia / spleen lobulation / accessory spleen - Autosomal recessive inheritance - Congenital absence / agenesis / aplasia / hypoplasia of the pancreas - Duodenal atresia / stenosis / megaduodenum - Ectopic / horseshoe / fused kidneys - Failure to thrive / difficulties for feeding in infancy / growth delay - Hypotonia - Intrauterine growth retardation - Larynx / laryngeal stenosis / atresia - Low set ears / posteriorly rotated ears - Undescended / ectopic testes / cryptorchidia / unfixed testes - Uterine / uterus / Fallopian tubes anomalies - Vesicorenal / vesicoureteral reflux
Acute myeloid leukemia with CEBPA somatic mutations
(no data available)