Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
3 associated genes
52 signs/symptoms
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Fraser syndrome

CREBBP FRAS1
FREM2
GRIP1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CREBBP
(0.63)
GRIP1



Citations in the biomedical literature:


Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
CREBBP
Fraser syndrome
FRAS1 FREM2 GRIP1



Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Fraser syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- Cryptophthalmos-syndactyly syndrome

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 eye disease
- Rare genetic disease
- Rare otorhinolaryngologic disease
- Rare renal 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 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D058497

Fraser syndrome

Very frequent
- Agenesis / hypoplasia / aplasia of kidneys
- Autosomal recessive inheritance
- Cryptophthalmia / ankyloblepharon / synblepharon
- Defect / anomaly of lacrimal system
- Multicystic kidney / renal dysplasia
- Syndactyly of fingers / interdigital palm
- Visual loss / blindness / amblyopia

Frequent
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Ambiguous genitalia
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Broad nose / nasal bridge
- Cleft / notched / bifid tongue
- Female pseudohermaphrodism / virilisation / clitoridomegaly
- Hypertelorism
- Hypoplastic scrotum / hemiscrotum / scrotal ridges
- Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula
- Larynx / laryngeal stenosis / atresia
- Low set ears / posteriorly rotated ears
- Micropenis / small penis / agenesis
- Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Structural anomalies of middle ear / ossicles / tympanic cavity
- Syndactyly of toes
- Vagina anomalies / atresia / hydrometrocolpos / hymen imperforation

Occasional
- Abnormal implantation of hair
- Abnormally placed nipples
- Absent lobe / lung / segmentation defect / abnormal lobulation / sequestration
- Anus ectopia / anteposition / malposition
- Bifid tip / cleft nose / supernumerary nose
- Bladder and ureter anomalies
- Cleft lip
- Cleft lip and palate
- Conductive deafness / hearing loss
- Congenital cardiac anomaly / malformation / cardiopathy
- Death in infancy
- Encephalocele / exencephaly
- External auditory canal atresia / stenosis / agenesis
- High vaulted / narrow palate
- Hypoplastic lungs / pulmonary hypoplasia / agenesis
- Hypospadias / epispadias / bent penis
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Microcephaly
- Myelomeningocele
- Omphalocele / exomphalos
- Scalp / skull defect
- Stillbirth / neonatal death
- Thin / hypoplastic ala nasi
- Tracheal atresia / stenosis
- Umbilical hernia
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Uterine / uterus / Fallopian tubes anomalies
- Vertebral segmentation anomaly / hemivertebrae


Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

(no data available)