raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:353284

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

Type
Etiological subtype
Group
Subtype of disorder
Inheritance
Autosomal dominant
Age of onset
Neonatal
Status
active

This disease is described under Rubinstein-Taybi syndrome

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enRubinstein-Taybi syndrome due to EP300 haploinsufficiency
frSyndrome de Rubinstein-Taybi par haploinsuffisance de EP300
deRubinstein-Taybi-Syndrom durch EP300-Haploinsuffizienz
esSíndrome de Rubinstein-Taybi por haploinsuficiencia de EP300
itSindrome di Rubinstein-Taybi da aploinsufficienza di EP300
nlSyndroom van Rubinstein-Taybi door haploinsufficiëntie van EP300
ptSíndrome Rubinstein-Taybi por haploinsuficiência EP300
plZespół Rubinsteina i Taybiego z powodu haploinsuficjencji EP300
csRubinsteinův-Taybiův syndrom způsobený haploinsuficiencí EP300Rubinstein-Taybiův syndrom způsobený haploinsuficiencí EP300
ukСиндром Рубінштейна-Тайбі, зумовлений гаплонедостатністю EP300
zhEP300单抗不足所致Rubinstein-Taybi综合征
trEP300 haplo yetmezliğine bağlı Rubinstein-Taybi sendromu
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM613684Evalidated
ICD-10Q87.2NTBTattributedvalidated
MONDO0013364Evalidated
UMLSC3150941Evalidated

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
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
EP300Disease-causing germline mutation(s) (loss of function) inAssessedHGNC:3373ENSG0000010039360270022q13.2EP300 lysine acetyltransferase20301699[PMID]
5

Prevalence and incidence

2 records
TypeClassValueAreaQualificationValidationSource
Cases/families34 casesWorldwideCase(s)Validated27465822[PMID]
Point prevalence<1 / 1 000 000—WorldwideClass onlyValidatedORPHANET_27465822[PMID]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

6

HPO phenotypes

123 annotations · validated 2020-06-09
HPOTerm (as annotated by Orphanet)Diagnostic
Very frequent (99-80%)
HP:0001999Abnormal facial shape
HP:0010055Broad hallux
HP:0011304Broad thumb
HP:0000750Delayed speech and language development
HP:0000494Downslanted palpebral fissures
HP:0000273Facial grimacing
HP:0000218High palate
HP:0002553Highly arched eyebrow
HP:0000316Hypertelorism
HP:0000369Low-set ears
HP:0000347Micrognathia
HP:0012758Neurodevelopmental delay
HP:0008897Postnatal growth retardation
HP:0005322Prominent nasal septum
HP:0005484Secondary microcephaly
HP:0006200Widened distal phalanges
Frequent (79-30%)
HP:0030680Abnormal cardiovascular system morphology
HP:0100852Abnormal fear/anxiety-related behavior
HP:0001627Abnormal heart morphology
HP:0009834Abnormal proximal phalanx morphology of the hand
HP:0000733Abnormal repetitive mannerisms
HP:0000478Abnormality of the eye
HP:0000119Abnormality of the genitourinary system
HP:0000077Abnormality of the kidney
HP:0000756Agoraphobia
HP:0000708Atypical behavior
HP:0410263Brain imaging abnormality
HP:0009836Broad distal phalanx of finger
HP:0000722Compulsive behaviors
HP:0002019Constipation
HP:0000444Convex nasal ridge
HP:0000028Cryptorchidism
HP:0000712Emotional lability
HP:0001508Failure to thrive
HP:0008872Feeding difficulties in infancy
HP:0100710Impulsivity
HP:0008752Laryngeal cartilage malformation
HP:0009765Low hanging columella
HP:0000189Narrow palate
HP:0001513Obesity
HP:0002870Obstructive sleep apnea
HP:0025269Panic attack
HP:0000508Ptosis
HP:0002205Recurrent respiratory infections
HP:0012760Reduced social responsiveness
HP:0004322Short stature
HP:0007086Social and occupational deterioration
HP:0011087Talon cusp
Occasional (29-5%)
HP:0001273Abnormal corpus callosum morphology
HP:0031251Abnormal subclavian artery morphology
HP:0030047Abnormality of lateral ventricle
HP:0003319Abnormality of the cervical spine
HP:0010674Abnormality of the curvature of the vertebral column
HP:0000932Abnormality of the posterior cranial fossa
HP:0000079Abnormality of the urinary system
HP:0001344Absent speech
HP:0000718Aggressive behavior
HP:0002835Aspiration
HP:0001631Atrial septal defect
HP:0005743Avascular necrosis of the capital femoral epiphysis
HP:0031546Cardiac conduction abnormality
HP:0000670Carious teeth
HP:0002308Chiari malformation
HP:0007099Chiari type I malformation
HP:0000405Conductive hearing impairment
HP:0000559Corneal scarring
HP:0012448Delayed myelination
HP:0000678Dental crowding
HP:0000689Dental malocclusion
HP:0010051Deviation of the hallux
HP:0002020Gastroesophageal reflux
HP:0000501Glaucoma
HP:0001385Hip dysplasia
HP:0000034Hydrocele testis
HP:0000126Hydronephrosis
HP:0000752Hyperactivity
HP:0000540Hypermetropia
HP:0000668Hypodontia
HP:0000047Hypospadias
HP:0001252Hypotonia
HP:0001249Intellectual disability
HP:0001511Intrauterine growth retardation
HP:0001382Joint hypermobility
HP:0002858Meningioma
HP:0011470Nasogastric tube feeding in infancy
HP:0000579Nasolacrimal duct obstruction
HP:0000787Nephrolithiasis
HP:0000639Nystagmus
HP:0000388Otitis media
HP:0002999Patellar dislocation
HP:0001643Patent ductus arteriosus
HP:0001655Patent foramen ovale
HP:0002090Pneumonia
HP:0010442Polydactyly
HP:0001561Polyhydramnios
HP:0000010Recurrent urinary tract infections
HP:0100716Self-injurious behavior
HP:0000486Strabismus
HP:0011069Supernumerary tooth
HP:0001159Syndactyly
HP:0001128Trichiasis
HP:0001629Ventricular septal defect
HP:0000076Vesicoureteral reflux
Very rare (<4-1%)
HP:0001181Adducted thumb
HP:0001650Aortic valve stenosis
HP:0002099Asthma
HP:0001647Bicuspid aortic valve
HP:0000518Cataract
HP:0005374Cellular immunodeficiency
HP:0002341Cervical cord compression
HP:0001680Coarctation of aorta
HP:0000589Coloboma
HP:0002353EEG abnormality
HP:0005363Humoral immunodeficiency
HP:0002566Intestinal malrotation
HP:0010562Keloids
HP:0000695Natal tooth
HP:0030434Pilomatrixoma
HP:0001642Pulmonic stenosis
HP:0001250Seizure
HP:0000407Sensorineural hearing impairment
HP:0003396Syringomyelia
HP:0010775Vascular ring

Run the differential on the 12 obligate / very frequent terms

Annotation source: 31637876[PMID]_20301699[PMID]

7

Sources for this card