ODCs

Click node...

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
29 signs/symptoms

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

Deafness - lymphedema - leukemia


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		Deafness - lymphedema - leukemia
	Synonym(s): (no synonyms)		Synonym(s): - Emberger 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 circulatory system disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare hematologic disease - Rare oncologic disease - Rare otorhinolaryngologic disease - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		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: childhood Average age of death: no data available Type of inheritance: autosomal dominant

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

Deafness - lymphedema - leukemia
	Very frequent - Acute leukemia - Asthenia / fatigue / weakness - Autosomal dominant inheritance - Bone marrow failure / pancytopenia - Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding - Lymphedema - Polynuclear cells / neutrophils anomalies / neutropenia - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Sensorineural deafness / hearing loss - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Thrombocytopenia / thrombopenia Frequent - Blood hyperviscosity / hypercoagulability - Bruisability - Chronic / relapsing otitis - Dizziness - Facial pain / cephalalgia / migraine - Fever / chilling - Hepatomegaly / liver enlargement (excluding storage disease) - Intracranial / cerebral / meningeal hemorrhage - Nausea / vomiting / regurgitation / merycism / hyperemesis - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Pallor - Repeat respiratory infections - Splenomegaly - Visual loss / blindness / amblyopia - Weight loss / loss of appetite / break in weight curve / general health alteration Occasional - Hyperleukocytosis / leukocytosis - Lymphadenopathy / polyadenopathies - Myeloproliferative syndrome / chronic leukemia
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
(no data available)