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1 OMIM reference -
2 associated genes
11 signs/symptoms
PROTEIN INTERACTIONS: 1
9 OMIM references -
8 associated genes
No signs/symptoms info
Isolated plagiocephaly
Colobomatous microphthalmia

FGFR3 ABCB6
TCF12 GDF3
GDF6
SHH
SOX2
STRA6
TENM3
VSX2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TCF12
(0.63)
SOX2



Citations in the biomedical literature:


Isolated plagiocephaly
FGFR3 TCF12
Colobomatous microphthalmia
ABCB6 GDF3 GDF6 SHH SOX2 STRA6
TENM3 VSX2



Isolated plagiocephaly
Colobomatous microphthalmia

Synonym(s):
- Non-syndromic unicoronal synostosis
- Synostotic plagiocephaly

Synonym(s):
- MAC
- Microphthalmia - anophthalmia - coloboma
- Microphthalmia with colobomatous cyst

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease

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

Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

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

Isolated plagiocephaly

Very frequent
- Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy
- Frontal bossing / prominent forehead
- Plagiocephaly

Frequent
- Abnormal eye movements / oculomotor disorder
- Abnormal visual field / hemianopsia / hemianopia / scotoma / visual peripheral rim
- Strabismus / squint

Occasional
- Autosomal dominant inheritance
- Hearing loss / hypoacusia / deafness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Mid-facial hypoplasia / short / small midface


Colobomatous microphthalmia

(no data available)