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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
3 associated genes
11 signs/symptoms
Rubinstein-Taybi syndrome due to CREBBP mutations
MURCS association

CREBBP HNF1B
LHX1
TBX6


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CREBBP
(0.55)
HNF1B



Citations in the biomedical literature:


Rubinstein-Taybi syndrome due to CREBBP mutations
CREBBP
MURCS association
HNF1B LHX1 TBX6



Rubinstein-Taybi syndrome due to CREBBP mutations
MURCS association

Synonym(s):
(no synonyms)

Synonym(s):
- Klippel-Feil deformity - conductive deafness - absent vagina
- MRKH syndrome type 2
- Mayer-Rokitansky-Küster-Hauser syndrome type 2
- Mullerian aplasia - renal aplasia - cervicothoracic somite dysplasia

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 (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility
- Rare renal disease
- Rare urogenital disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

MURCS association

Very frequent
- Agenesis / hypoplasia / aplasia of kidneys
- Ectopic / horseshoe / fused kidneys
- Late puberty / hypogonadism / hypogenitalism
- Low hair line (back)
- Short neck
- Short stature / dwarfism / nanism
- Uterine / uterus / Fallopian tubes anomalies
- Vertebral segmentation anomaly / hemivertebrae

Frequent
- Anomalies of the ribs
- Scapula structural / position anomaly / congenital elevation / Sprengel anomaly

Occasional
- Hearing loss / hypoacusia / deafness


Rubinstein-Taybi syndrome due to CREBBP mutations

(no data available)