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1 OMIM reference -
14 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
3 associated genes
17 signs/symptoms
Microform holoprosencephaly
BOR syndrome

CDON EYA1
DISP1 SIX1
DLL1 SIX5
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:


Microform holoprosencephaly
CDON DISP1 DLL1 FGF8 FOXH1 GAS1
GLI2 NODAL PTCH1 SHH SIX3 TDGF1
TGIF1 ZIC2
BOR syndrome
EYA1 SIX1 SIX5



Microform holoprosencephaly
BOR syndrome

Synonym(s):
- Microform HPE

Synonym(s):
- Branchiootorenal syndrome

Classification (Orphanet):
(no data available)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical 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:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: adult
Type of inheritance: multigenic/multifactorial
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
2 OMIM references -
1 MeSH reference: D019280

BOR syndrome

Very frequent
- Autosomal dominant inheritance
- Hearing loss / hypoacusia / deafness

Frequent
- Agenesis / hypoplasia / aplasia of kidneys
- Branchial / posterior auricular / preauricular / cheek cysts / fistulae
- External ear anomalies
- Preauricular / branchial tags / appendages
- 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
- External auditory canal atresia / stenosis / agenesis
- Facial palsy
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Micrognathia / retrognathia / micrognathism / retrognathism
- Multicystic kidney / renal dysplasia
- Renal failure
- Vesicorenal / vesicoureteral reflux


Microform holoprosencephaly

(no data available)