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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 CREBBP mutations
Deafness - lymphedema - leukemia

CREBBP GATA2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CREBBP
(0.56)
GATA2



Citations in the biomedical literature:


Rubinstein-Taybi syndrome due to CREBBP mutations
CREBBP
Deafness - lymphedema - leukemia
GATA2



Rubinstein-Taybi syndrome due to CREBBP mutations
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 CREBBP mutations

(no data available)