Rubinstein-taybi syndrome 2

Preferred Label : Rubinstein-taybi syndrome 2;

Symbol : RSTS2;

CISMeF acronym : RSTS2;

Type : Phenotype, molecular basis known;

Description : Rubinstein-Taybi syndrome (RSTS) is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features. The classic facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly arched palate, mild micrognathia, and characteristic grimacing or abnormal smile (Rubinstein and Taybi, 1963; review by Hennekam, 2006). About 50 to 70% of patients have RSTS1 due to mutation in the CREBBP gene (600140). RSTS2 is much less common, and about 3% of patients have mutations in the EP300 gene. RSTS2 appears to be associated with a milder phenotype than RSTS1. Patients with RSTS2 have less severe facial dysmorphism and better cognitive function, but may have more severe microcephaly and malformation of facial bone structures compared to those with RSTS1 (Bartsch et al., 2010).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the 300-KD E1A-binding protein gene (EP300, 602700.0003);

Prefixed ID : #613684;

Details

Origin ID

613684;

UMLS CUI

C3150941;

Currated CISMeF NLP mapping
- Rubinstein-Taybi Syndrome Type 2 [NCIt concept]
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ORDO Disease]
DO Cross reference
- Rubinstein-Taybi syndrome [DO Concept]
Genes related to phenotype
- E1a-binding protein, 300-kd [OMIM gene]
HPO term(s)
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad hallux [HPO term]
- Broad thumb [HPO term]
- Carious teeth [HPO term]
- Congenital onset [HPO term]
- Convex nasal ridge [HPO term]
- Delayed gross motor development [HPO term]
- Delayed speech and language development [HPO term]
- Dental malocclusion [HPO term]
- Downslanted palpebral fissures [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Hirsutism [HPO term]
- Hyperactivity [HPO term]
- Increased overbite [HPO term]
- Intellectual disability, mild [HPO term]
- Intestinal malrotation [HPO term]
- Long eyelashes [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Narrow palate [HPO term]
- Posterior helix pit [HPO term]
- Preeclampsia [HPO term]
- Prominent nose [HPO term]
- Retrognathia [HPO term]
- Sporadic [HPO term]
- Syndactyly [HPO term]
ORDO concept(s)
- Rubinstein-Taybi syndrome [ORDO Disease]
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [ORDO Disease]
See also inter- (CISMeF)
- EP300 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Rubinstein-Taybi Syndrome Type 2 [NCIt concept]
Validated automatic mappings to NTBT
- Rubinstein-Taybi syndrome [DO Concept]
- Rubinstein-Taybi syndrome [ORDO Disease]

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