ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

Congenital dyserythropoietic anemia type IV


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CREBBP	(0.8)	KLF1

Citations in the biomedical literature:

Rubinstein-Taybi syndrome due to 16p13.3 microdeletion		Congenital dyserythropoietic anemia type IV
	Synonym(s): (no synonyms)		Synonym(s): - CDA IV - CDA due to KLF1 mutation - CDA type 4 - CDA type IV - CDAN4 - Congenital dyserythropoietic anemia due to KLF1 mutation - Congenital dyserythropoietic anemia type 4

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare oncologic disease - Rare renal disease		Classification (Orphanet): - Rare genetic disease - Rare hematologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

	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: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - No MeSH references

No signs/symptoms info available.