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Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
1 OMIM reference -
1 associated gene
260 connected diseases
No signs/symptoms info
Disease Type of connection
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Tetralogy of Fallot
Hereditary breast and ovarian cancer syndrome
Acute promyelocytic leukemia
MODY syndrome
Familial pancreatic carcinoma
Giant cell glioblastoma
Gliosarcoma
Atrial septal defect, ostium secundum type
Autosomal dominant nonsyndromic intellectual deficit
Single ventricular septal defect
Familial thoracic aortic aneurysm and aortic dissection
Familial atrial fibrillation
Ewing sarcoma
Familial prostate cancer
B-cell chronic lymphocytic leukemia
Autosomal agammaglobulinemia
Melanoma of soft part
Complete atrioventricular canal - ventricle hypoplasia
46,XY partial gonadal dysgenesis
46,XX ovotesticular disorder of sex development
46,XX testicular disorder of sex development
Isolated brachycephaly
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Chronic myeloid leukemia
Fuchs endothelial corneal dystrophy
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Extraskeletal myxoid chondrosarcoma
Congenital diaphragmatic hernia
Amyotrophic lateral sclerosis
Split hand-split foot malformation
Atrial septal defect, sinus venosus type
Situs inversus totalis
Adrenocortical carcinoma
Anaplastic ependymoma
Dedifferentiated liposarcoma
Essential thrombocythemia
Estrogen resistance syndrome
Familial partial lipodystrophy associated with PPARG mutations
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Li-Fraumeni syndrome
Papilloma of choroid plexus
Primary peritoneal carcinoma
Well-differentiated liposarcoma
Hyperinsulinism due to HNF1A deficiency
Nijmegen breakage syndrome
Solitary fibrous tumor
Burkitt lymphoma
Aneurysm - osteoarthritis syndrome
Autosomal dominant hyper-IgE syndrome
5q14.3 microdeletion syndrome
Cowden syndrome
Pallister-Hall syndrome
Pitt-Hopkins syndrome
Primary sclerosing cholangitis
Proteus syndrome
Chronic mucocutaneous candidiasis
Familial platelet syndrome with predisposition to acute myelogenous leukemia
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary hemorrhagic telangiectasia
Hypocalcemic vitamin D-resistant rickets
Isolated delta-storage pool disease
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Myhre syndrome
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Susceptibility to viral and mycobacterial infections
Acute basophilic leukemia
Nijmegen breakage syndrome-like disorder
Squamous cell carcinoma of head and neck
8p23.1 microdeletion syndrome
Complete atrioventricular canal - Fallot tetralogy
Complete atrioventricular canal - left heart obstruction
Partial atrioventricular canal
Autosomal dominant secondary polycythemia
Craniopharyngioma
Desmoid tumor
Familial retinoblastoma
Hepatocellular carcinoma, childhood-onset
Monosomy 13q14
Multiple paragangliomas associated with polycythemia
Pilomatrixoma
Sporadic pheochromocytoma
Sporadic secreting paraganglioma
Unilateral retinoblastoma
Complete androgen insensitivity syndrome
Familial hypospadias
Kennedy disease
Partial androgen insensitivity syndrome
Aniridia - cerebellar ataxia - intellectual deficit
Autosomal dominant keratitis
Foveal hypoplasia - presenile cataract
Isolated aniridia
Isolated optic nerve hypoplasia
Isolated scaphocephaly
Morning glory syndrome
Peters anomaly
Saethre-Chotzen syndrome
Synovial sarcoma
WAGR syndrome
Branchio-oculo-facial syndrome
Campomelic dysplasia
Cleidocranial dysplasia
Fraser syndrome
Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Cataract-microcornea syndrome
Cerulean cataract
Pulverulent cataract
Hereditary pheochromocytoma-paraganglioma
Berardinelli-Seip congenital lipodystrophy
Mantle cell lymphoma
Multiple myeloma
Chuvash erythrocytosis
Von Hippel-Lindau disease
Floating-Harbor syndrome
Haddad syndrome
Myxoid / round cell liposarcoma
Ondine syndrome
Pancreatic hypoplasia - diabetes - congenital heart disease
Spinocerebellar ataxia type 17
Xeroderma pigmentosum complementation group E
Peripheral resistance to thyroid hormones
SHORT syndrome
Severe combined immunodeficiency due to DNA-PKcs deficiency
Xeroderma pigmentosum complementation group A
45,X / 46,XY mixed gonadal dysgenesis
46,XY complete gonadal dysgenesis
Baller-Gerold syndrome
RAPADILINO syndrome
Rothmund-Thomson syndrome type 2
Testicular regression syndrome
Follicular lymphoma
Intravascular large B-cell lymphoma
Isolated plagiocephaly
Primary mediastinal large B-cell lymphoma
Diffuse cutaneous systemic sclerosis
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
Limited cutaneous systemic sclerosis
Machado-Joseph disease type 1
Machado-Joseph disease type 2
Machado-Joseph disease type 3
Multiple endocrine neoplasia type 1
Paternal uniparental disomy of chromosome 6
Primary biliary cirrhosis
Seckel syndrome
Transient neonatal diabetes mellitus
Ataxia-telangiectasia-like disorder
Cone rod dystrophy
Constitutional mismatch repair deficiency syndrome
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
Hereditary nonpolyposis colon cancer
Leber congenital amaurosis
Muir-Torre syndrome
Non-polyposis Turcot syndrome
Retinitis pigmentosa
Autoimmune lymphoproliferative syndrome
Autosomal recessive systemic lupus erythematosus
Common variable immunodeficiency
Distal 22q11.2 microdeletion syndrome
Laron syndrome with immunodeficiency
Moyamoya disease
Atypical hemolytic uremic syndrome with H factor anomaly
Baraitser-Winter syndrome
Blackfan-Diamond anemia
Childhood-onset nemaline myopathy
Cockayne syndrome type 1
Cockayne syndrome type 2
Cockayne syndrome type 3
Congenital fiber-type disproportion myopathy
Congenital myopathy with excess of thin filaments
Dehydratase deficiency
Dense deposit disease
Desmoplastic small round cell tumor
Developmental malformations - deafness - dystonia
Extraskeletal Ewing sarcoma
Familial drusen
Familial gastric cancer
Familial thrombocytosis
Fibronectin glomerulopathy
Gastric linitis plastica
Glucocorticoid resistance
Glycogen storage disease due to acid maltase deficiency, adult onset
Glycogen storage disease due to acid maltase deficiency, infantile onset
Glycogen storage disease due to acid maltase deficiency, juvenile onset
Hereditary thrombocytosis with transverse limb defect
Hermansky-Pudlak syndrome without pulmonary fibrosis
Hypoplasminogenemia
Immunodeficiency due to an early component of complement deficiency
Immunodeficiency with factor H anomaly
Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
Immunoglobulin-mediated membranoproliferative glomerulonephritis
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
Inflammatory myofibroblastic tumor
Intellectual deficit - sparse hair - brachydactyly
Intermediate nemaline myopathy
Ligneous conjunctivitis
Loeys-Dietz syndrome type 1
Multiple keratoacanthoma, Ferguson-Smith type
Phosphoenolpyruvate carboxykinase 1 deficiency
Phosphoenolpyruvate carboxykinase 2 deficiency
Severe congenital nemaline myopathy
Spinocerebellar ataxia type 26
Spinocerebellar ataxia type 7
Translocation renal cell carcinoma
Typical nemaline myopathy
Tyrosinemia type 2
UV-sensitive syndrome
Young adult-onset Parkinsonism
Autosomal recessive limb-girdle muscular dystrophy type 2C
Benign adult familial myoclonic epilepsy
Congenital dyserythropoietic anemia type IV
Congenital vertical talus, bilateral
Congenital vertical talus, unilateral
Hereditary persistence of fetal hemoglobin - beta-thalassemia
Hereditary persistence of fetal hemoglobin - sickle cell disease
ADULT syndrome
Ankyloblepharon - ectodermal defects - cleft lip / palate
Bladder exstrophy
Cardiofaciocutaneous syndrome
Clear cell renal carcinoma
Congenital hereditary facial paralysis with variable hearing loss
EEC syndrome
Familial isolated dilated cardiomyopathy
Limb-mammary syndrome
MITF-related melanoma and renal cell carcinoma predisposition syndrome
Ocular albinism with congenital sensorineural deafness
Papillary renal cell carcinoma
Pyruvate dehydrogenase E3-binding protein deficiency
Tietz syndrome
Waardenburg syndrome type 2
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myeloid leukemia
Acute myeloid leukemia with CEBPA somatic mutations
Acute myelomonocytic leukemia
Athyreosis
Behavioral variant of frontotemporal dementia
Classical progressive supranuclear palsy
Deafness - lymphedema - leukemia
Ear-patella-short stature syndrome
Familial multiple meningioma
Inherited acute myeloid leukemia
Intrahepatic cholestasis of pregnancy
Monocytopenia with susceptibility to infections
Myelodysplastic syndromes
Posterior polymorphous corneal dystrophy
Progressive non-fluent aphasia
Progressive supranuclear palsy - corticobasal syndrome
Progressive supranuclear palsy - parkinsonism
Progressive supranuclear palsy - progressive non fluent aphasia
Progressive supranuclear palsy - pure akinesia with gait freezing
Semantic dementia
Thyroid hypoplasia
Uveal coloboma - cleft lip and palate - intellectual deficit
Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia
Hyperinsulinism due to HNF4A deficiency
X-linked intellectual deficit, Najm type
Synonym(s):
(no synonyms)
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 (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
EP300 Q09472602700
No signs/symptoms info available.