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 EP300 haploinsufficiency

Monocytopenia with susceptibility to infections


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	EP300	(0.52)	GATA2

Citations in the biomedical literature:

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency		Monocytopenia with susceptibility to infections
	Synonym(s): (no synonyms)		Synonym(s): - Combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections - Dentritic cell, monocyte, B and NK lymphoid deficiency - MonoMAC - Monocyte - B - natural killer - dendritic cell deficiency - Monocytopenia and mycobacterial infection syndrome

	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 immune disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): (no data available)

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adulthood 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.