ORPHA:353277
Rubinstein-Taybi syndrome due to CREBBP mutations
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
This disease is described under Rubinstein-Taybi syndrome
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| fr | Syndrome de Rubinstein-Taybi dû à des mutations de CREBBP | |
| de | Rubinstein-Taybi-Syndrom durch CREBBP-Genmutation | |
| es | Síndrome de Rubinstein-Taybi por mutaciones en el gen CREBBP | |
| it | Sindrome di Rubinstein-Taybi da mutazioni di CREBBP | |
| nl | Syndroom van Rubinstein-Taybi door CREBBP-mutaties | |
| pt | Síndrome Rubinstein-Taybi por mutações CREBBP | |
| pl | Zespół Rubinsteina i Taybiego spowodowany mutacjami CREBBP | |
| cs | Rubinsteinův-Taybiův syndrom způsobený mutacemi v CREBBP genu | Rubinstein-Taybiův syndrom způsobený mutacemi v CREBBP genu |
| uk | Синдром Рубінштейна-Тейбі, зумовлений мутацією CREBBP | |
| zh | CREBBP基因突变所致Rubinstein-Taybi综合征 | |
| tr | CREBBP mutasyonlarına bağlı Rubinstein-Taybi sendromu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 180849 | E | validated | |
| ICD-10 | Q87.2 | NTBT | attributed | validated |
| MONDO | 0008393 | E | validated | |
| UMLS | C5681840 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:783Rubinstein-Taybi syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare renal diseases; rare ophthalmic disorders; rare endocrine diseases; rare bone diseases; rare neoplastic diseases; rare transplant-related disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CREBBP | Disease-causing germline mutation(s) in | Assessed | HGNC:2348 | ENSG00000005339 | 600140 | 16p13.3 | CREB binding lysine acetyltransferase | 20301699[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
122 annotations · validated 2020-06-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0010055 | Broad hallux | |
| HP:0011304 | Broad thumb | |
| HP:0000750 | Delayed speech and language development | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000273 | Facial grimacing | |
| HP:0000218 | High palate | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0000316 | Hypertelorism | |
| HP:0001249 | Intellectual disability | |
| HP:0000369 | Low-set ears | |
| HP:0000347 | Micrognathia | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0005322 | Prominent nasal septum | |
| HP:0006200 | Widened distal phalanges | |
| Frequent (79-30%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0100852 | Abnormal fear/anxiety-related behavior | |
| HP:0001627 | Abnormal heart morphology | |
| HP:0009834 | Abnormal proximal phalanx morphology of the hand | |
| HP:0000733 | Abnormal repetitive mannerisms | |
| HP:0000478 | Abnormality of the eye | |
| HP:0000119 | Abnormality of the genitourinary system | |
| HP:0000077 | Abnormality of the kidney | |
| HP:0000756 | Agoraphobia | |
| HP:0000708 | Atypical behavior | |
| HP:0410263 | Brain imaging abnormality | |
| HP:0009836 | Broad distal phalanx of finger | |
| HP:0000722 | Compulsive behaviors | |
| HP:0002019 | Constipation | |
| HP:0000444 | Convex nasal ridge | |
| HP:0000028 | Cryptorchidism | |
| HP:0000712 | Emotional lability | |
| HP:0001508 | Failure to thrive | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0100710 | Impulsivity | |
| HP:0008752 | Laryngeal cartilage malformation | |
| HP:0009765 | Low hanging columella | |
| HP:0000189 | Narrow palate | |
| HP:0001513 | Obesity | |
| HP:0002870 | Obstructive sleep apnea | |
| HP:0025269 | Panic attack | |
| HP:0000508 | Ptosis | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0012760 | Reduced social responsiveness | |
| HP:0004322 | Short stature | |
| HP:0007086 | Social and occupational deterioration | |
| HP:0011087 | Talon cusp | |
| Occasional (29-5%) | ||
| HP:0001273 | Abnormal corpus callosum morphology | |
| HP:0031251 | Abnormal subclavian artery morphology | |
| HP:0030047 | Abnormality of lateral ventricle | |
| HP:0003319 | Abnormality of the cervical spine | |
| HP:0010674 | Abnormality of the curvature of the vertebral column | |
| HP:0000932 | Abnormality of the posterior cranial fossa | |
| HP:0000079 | Abnormality of the urinary system | |
| HP:0001344 | Absent speech | |
| HP:0001181 | Adducted thumb | |
| HP:0000718 | Aggressive behavior | |
| HP:0002835 | Aspiration | |
| HP:0001631 | Atrial septal defect | |
| HP:0005743 | Avascular necrosis of the capital femoral epiphysis | |
| HP:0031546 | Cardiac conduction abnormality | |
| HP:0000670 | Carious teeth | |
| HP:0002308 | Chiari malformation | |
| HP:0007099 | Chiari type I malformation | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0000559 | Corneal scarring | |
| HP:0012448 | Delayed myelination | |
| HP:0000678 | Dental crowding | |
| HP:0000689 | Dental malocclusion | |
| HP:0010051 | Deviation of the hallux | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0000501 | Glaucoma | |
| HP:0001385 | Hip dysplasia | |
| HP:0000034 | Hydrocele testis | |
| HP:0000126 | Hydronephrosis | |
| HP:0000752 | Hyperactivity | |
| HP:0000540 | Hypermetropia | |
| HP:0000668 | Hypodontia | |
| HP:0000047 | Hypospadias | |
| HP:0001252 | Hypotonia | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0001382 | Joint hypermobility | |
| HP:0002858 | Meningioma | |
| HP:0011470 | Nasogastric tube feeding in infancy | |
| HP:0000579 | Nasolacrimal duct obstruction | |
| HP:0000787 | Nephrolithiasis | |
| HP:0000639 | Nystagmus | |
| HP:0000388 | Otitis media | |
| HP:0002999 | Patellar dislocation | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0001655 | Patent foramen ovale | |
| HP:0002090 | Pneumonia | |
| HP:0010442 | Polydactyly | |
| HP:0001561 | Polyhydramnios | |
| HP:0000010 | Recurrent urinary tract infections | |
| HP:0100716 | Self-injurious behavior | |
| HP:0000486 | Strabismus | |
| HP:0011069 | Supernumerary tooth | |
| HP:0001159 | Syndactyly | |
| HP:0001128 | Trichiasis | |
| HP:0001629 | Ventricular septal defect | |
| HP:0000076 | Vesicoureteral reflux | |
| Very rare (<4-1%) | ||
| HP:0001650 | Aortic valve stenosis | |
| HP:0002099 | Asthma | |
| HP:0001647 | Bicuspid aortic valve | |
| HP:0000518 | Cataract | |
| HP:0005374 | Cellular immunodeficiency | |
| HP:0002341 | Cervical cord compression | |
| HP:0001680 | Coarctation of aorta | |
| HP:0000589 | Coloboma | |
| HP:0002353 | EEG abnormality | |
| HP:0005363 | Humoral immunodeficiency | |
| HP:0002566 | Intestinal malrotation | |
| HP:0010562 | Keloids | |
| HP:0000695 | Natal tooth | |
| HP:0030434 | Pilomatrixoma | |
| HP:0001642 | Pulmonic stenosis | |
| HP:0001250 | Seizure | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0003396 | Syringomyelia | |
| HP:0010775 | Vascular ring | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 31637876[PMID]_20301699[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/353277
- This record as JSON: /data/d/353277.json