Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

ALX1 CREBBP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ALX1
(0.67)
CREBBP



Citations in the biomedical literature:


Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
ALX1
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
CREBBP



Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

Synonym(s):
- ALX1-related frontonasal dysplasia

Synonym(s):
(no synonyms)

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 endocrine disease
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare renal 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:
(no data available)

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

No signs/symptoms info available.