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14 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
3 OMIM references -
2 associated genes
18 signs/symptoms
Semilobar holoprosencephaly
Branchio-otic syndrome

CDON EYA1
DISP1 SIX1
DLL1
FGF8
FOXH1
GAS1
GLI2
NODAL
PTCH1
SHH
SIX3
TDGF1
TGIF1
ZIC2


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Semilobar holoprosencephaly
CDON DISP1 DLL1 FGF8 FOXH1 GAS1
GLI2 NODAL PTCH1 SHH SIX3 TDGF1
TGIF1 ZIC2
Branchio-otic syndrome
EYA1 SIX1



Semilobar holoprosencephaly
Branchio-otic syndrome

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare otorhinolaryngologic disease

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

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

External references:
No OMIM references
No MeSH references
External references:
3 OMIM references -
No MeSH references

Branchio-otic syndrome

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


Semilobar holoprosencephaly

(no data available)