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Branchio-otic syndrome
3 OMIM references -
2 associated genes
18 signs/symptoms
PROTEIN INTERACTIONS: 1
Schizencephaly
1 OMIM reference -
4 associated genes
8 signs/symptoms
Branchio-otic syndrome
Schizencephaly

EYA1
(UniProt - OMIM)
 COL4A1
(UniProt - OMIM)
SIX1
(UniProt - OMIM)
 EMX2
(UniProt - OMIM)
SHH
(UniProt - OMIM)
SIX3
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
EYA1
(0.55)
SIX3


Citations in the biomedical literature:


Branchio-otic syndrome
EYA1 SIX1
Schizencephaly
COL4A1 EMX2 SHH SIX3



Branchio-otic syndrome
Schizencephaly

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare otorhinolaryngologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic 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: -
Type of inheritance: autosomal dominant
External references:
3 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
Branchio-otic syndrome
Schizencephaly

Very frequent
- Autosomal dominant inheritance
- Branchial / posterior auricular / preauricular / cheek cysts / fistulae
- Dermoid sinus / dimple / pit (excluding sacral)
- Hearing loss / hypoacusia / deafness

Frequent
- Branchial fistulae of the neck
- Conductive deafness / hearing loss
- External auditory canal atresia / stenosis / agenesis
- External ear anomalies
- Sensorineural deafness / hearing loss
- Structural anomalies of inner ear / cochlea / vestible / semicircular canals
- Structural anomalies of middle ear / ossicles / tympanic cavity

Occasional
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Defect / anomaly of lacrimal system
- Facial palsy
- Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy
- Lip pits / fistulae
- Micrognathia / retrognathia / micrognathism / retrognathism
- Preauricular / branchial tags / appendages


Very frequent
- Corpus callosum / septum pellucidum total / partial agenesis
- EEG anomalies
- Hypertonia / spasticity / rigidity / stiffness
- Porencephaly
- Strabismus / squint

Frequent
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Seizures / epilepsy / absences / spasms / status epilepticus