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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
3 OMIM references -
3 associated genes
5 signs/symptoms
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
Isolated scaphocephaly

ALX1 ALX4
ERF
TWIST1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ALX1
(0.52)
ALX4



Citations in the biomedical literature:


Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
ALX1
Isolated scaphocephaly
ALX4 ERF TWIST1



Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
Isolated scaphocephaly

Synonym(s):
- ALX1-related frontonasal dysplasia

Synonym(s):
- Isolated dolichocephaly
- Non-syndromic sagittal synostosis

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant

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

Isolated scaphocephaly

Very frequent
- Dolichocephaly / scaphocephaly

Occasional
- Autosomal dominant inheritance
- Cranial hypertension
- Frontal bossing / prominent forehead
- Prominent occiput / occipital bossing


Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome

(no data available)