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Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
1 OMIM reference -
1 associated gene
223 connected diseases
No signs/symptoms info
Disease Type of connection
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Rubinstein-Taybi syndrome due to CREBBP mutations
Precursor B-cell acute lymphoblastic leukemia
Giant cell glioblastoma
Gliosarcoma
Melanoma of soft part
Precursor T-cell acute lymphoblastic leukemia
Familial pancreatic carcinoma
Acute promyelocytic leukemia
MODY syndrome
Acute basophilic leukemia
Autosomal dominant nonsyndromic intellectual deficit
Desmoid tumor
Familial thoracic aortic aneurysm and aortic dissection
Coffin-Siris syndrome
Familial rhabdoid tumor
B-cell chronic lymphocytic leukemia
Desmoplastic small round cell tumor
Oligodontia
Extraskeletal myxoid chondrosarcoma
Familial prostate cancer
Myelodysplastic syndromes
Primary biliary cirrhosis
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Constitutional mismatch repair deficiency syndrome
Hereditary nonpolyposis colon cancer
Muir-Torre syndrome
Non-polyposis Turcot syndrome
46,XY partial gonadal dysgenesis
Common variable immunodeficiency
Anaplastic ependymoma
Craniopharyngioma
Hepatocellular carcinoma, childhood-onset
Pilomatrixoma
Aneurysm - osteoarthritis syndrome
Adrenocortical carcinoma
Alveolar rhabdomyosarcoma
Complete androgen insensitivity syndrome
Essential thrombocythemia
Estrogen resistance syndrome
Familial hypospadias
Hyperinsulinism due to HNF4A deficiency
Kennedy disease
Li-Fraumeni syndrome
Papilloma of choroid plexus
Partial androgen insensitivity syndrome
Chronic mucocutaneous candidiasis
Glucocorticoid resistance
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Primary peritoneal carcinoma
Solitary fibrous tumor
Susceptibility to viral and mycobacterial infections
Acrocallosal syndrome
Autosomal agammaglobulinemia
Diffuse cutaneous systemic sclerosis
Familial partial lipodystrophy associated with PPARG mutations
Greig cephalopolysyndactyly syndrome
Hyperinsulinism due to HNF1A deficiency
Limited cutaneous systemic sclerosis
Pallister-Hall syndrome
Polysyndactyly, bilateral
Polysyndactyly, unilateral
Postaxial polydactyly type A, bilateral
Postaxial polydactyly type A, unilateral
Postaxial polydactyly type B, bilateral
Postaxial polydactyly type B, unilateral
Berardinelli-Seip congenital lipodystrophy
Huntington disease
Juvenile Huntington disease
Autosomal dominant hyper-IgE syndrome
Ewing sarcoma
Extraskeletal Ewing sarcoma
Burkitt lymphoma
Hypodontia - dysplasia of nails
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Atypical teratoid tumor
Autoimmune polyendocrinopathy type 1
Familial multiple meningioma
Floating-Harbor syndrome
Hypohidrotic ectodermal dysplasia with immunodeficiency
Incontinentia pigmenti
Neurofibromatosis type 3
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Beta-thalassemia - X-linked thrombocytopenia
Chronic myeloid leukemia
Congenital erythropoietic porphyria
Familial platelet syndrome with predisposition to acute myelogenous leukemia
Isolated delta-storage pool disease
Thrombocytopenia with congenital dyserythropoietic anemia
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
Athyreosis
Benign familial chorea
Brain-lung-thyroid syndrome
Cataract-microcornea syndrome
Cerulean cataract
Congenital dyserythropoietic anemia type IV
Hereditary persistence of fetal hemoglobin - beta-thalassemia
Hereditary persistence of fetal hemoglobin - sickle cell disease
Papillary or follicular thyroid carcinoma
Pulverulent cataract
Thyroid hypoplasia
Amyotrophic lateral sclerosis
Benign adult familial myoclonic epilepsy
Dedifferentiated liposarcoma
Machado-Joseph disease type 1
Machado-Joseph disease type 2
Machado-Joseph disease type 3
Well-differentiated liposarcoma
Congenital fibrosis of extraocular muscles
Coffin-Lowry syndrome
X-linked non-syndromic intellectual deficit
Atrial septal defect, ostium secundum type
Atrial septal defect, sinus venosus type
Charcot-Marie-Tooth disease type 2B2
Hypocalcemic vitamin D-resistant rickets
Single ventricular septal defect
Situs inversus totalis
Tetralogy of Fallot
Apolipoprotein A-I deficiency
Cree leukoencephalopathy
Ovarioleukodystrophy
Squamous cell carcinoma of head and neck
Tangier disease
Combined pituitary hormone deficiencies, genetic forms
Cowden syndrome
Hypothyroidism due to deficient transcription factors involved in pituitary development or function
Proteus syndrome
Autosomal recessive primary microcephaly
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
Hartsfield-Bixler-Demyer syndrome
Isolated trigonocephaly
Kallmann syndrome
Myeloid neoplasm associated with FGFR1 rearrangement
Normosmic congenital hypogonadotropic hypogonadism
Osteoglophonic dwarfism
Pfeiffer syndrome type 1
Pilocytic astrocytoma
Seckel syndrome
Septo-optic dysplasia
Denys-Drash syndrome
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Frasier syndrome
Meacham syndrome
Moyamoya disease
Nephroblastoma
Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
WAGR syndrome
APC-related attenuated familial adenomatous polyposis
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Autosomal dominant secondary polycythemia
Cleidocranial dysplasia
Familial adenomatous polyposis due to 5q22.2 microdeletion
Familial gastric cancer
Fraser syndrome
Gardner syndrome
Gastric linitis plastica
Intellectual deficit - sparse hair - brachydactyly
LIG4 syndrome
Laron syndrome with immunodeficiency
Lennox-Gastaut syndrome
Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
Multicentric carpo-tarsal osteolysis with or without nephropathy
Multiple endocrine neoplasia type 1
Multiple paragangliomas associated with polycythemia
Omenn syndrome
Spinocerebellar ataxia type 17
Spondylometaphyseal dysplasia - cone-rod dystrophy
Sporadic pheochromocytoma
Sporadic secreting paraganglioma
Turcot syndrome with polyposis
Werner syndrome
Congenital vertical talus, bilateral
Congenital vertical talus, unilateral
Isolated brachycephaly
Isolated plagiocephaly
46,XX gonadal dysgenesis
46,XY complete gonadal dysgenesis
Acute myeloid leukemia
Brachydactyly type E
Brachydactyly-syndactyly, Zhao type
Deafness - lymphedema - leukemia
Monocytopenia with susceptibility to infections
Paternal uniparental disomy of chromosome 6
Syndactyly type 5
Synpolydactyly type 1
Transient neonatal diabetes mellitus
VACTERL / VATER association
17q12 microdeletion syndrome
46,XX ovotesticular disorder of sex development
46,XX testicular disorder of sex development
Autoimmune lymphoproliferative syndrome
Autosomal dominant primary hypomagnesemia with hypocalciuria
Autosomal recessive systemic lupus erythematosus
Campomelic dysplasia
Classic Mayer-Rokitansky-Küster-Hauser syndrome
Cone rod dystrophy
Congenital hereditary facial paralysis with variable hearing loss
Familial isolated dilated cardiomyopathy
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary hemorrhagic telangiectasia
Leber congenital amaurosis
MURCS association
Myhre syndrome
Peripheral resistance to thyroid hormones
Radio-ulnar synostosis - amegakaryocytic thrombocytopenia
Renal cysts and diabetes syndrome
Retinitis pigmentosa
Acute myeloid leukemia with CEBPA somatic mutations
Behçet disease
Fibrodysplasia ossificans progressiva
Follicular lymphoma
Homozygous familial hypercholesterolemia
Inherited acute myeloid leukemia
Intravascular large B-cell lymphoma
Juvenile rheumatoid factor-negative polyarthritis
Oligoarticular juvenile arthritis
Pediatric systemic lupus erythematosus
Primary mediastinal large B-cell lymphoma
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
CREBBP Q92793600140
No signs/symptoms info available.