Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
24 signs/symptoms
PROTEIN INTERACTIONS: 1
8 OMIM references -
9 associated genes
No signs/symptoms info
Greig cephalopolysyndactyly syndrome
Familial thoracic aortic aneurysm and aortic dissection

GLI3 ACTA2
FBN1
MYH11
MYLK
PRKG1
SMAD3
TGFB2
TGFBR1
TGFBR2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GLI3
(0.52)
SMAD3



Citations in the biomedical literature:


Greig cephalopolysyndactyly syndrome
GLI3
Familial thoracic aortic aneurysm and aortic dissection
ACTA2 FBN1 MYH11 MYLK PRKG1 SMAD3
TGFB2 TGFBR1 TGFBR2



Greig cephalopolysyndactyly syndrome
Familial thoracic aortic aneurysm and aortic dissection

Synonym(s):
- GCPS

Synonym(s):
- Familial TAAD

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare circulatory system disease
- Rare genetic disease
- Rare surgical thoracic disease
- Rare systemic or rheumatologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the circulatory system -

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: C537300
External references:
8 OMIM references -
No MeSH references

Greig cephalopolysyndactyly syndrome

Very frequent
- Autosomal dominant inheritance
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Postaxial polydactyly (hand)
- Preaxial polydactyly of toes / big toe duplication

Frequent
- Advanced bone age
- Broad nose / nasal bridge
- Frontal bossing / prominent forehead
- High forehead
- Hypertelorism
- Syndactyly of fingers / interdigital palm
- Syndactyly of toes
- Telecanthus / canthal dystopy

Occasional
- Broad / bifid big toe
- Broad / bifid thumb
- Corpus callosum / septum pellucidum total / partial agenesis
- Craniostenosis / craniosynostosis / sutural synostosis
- Diaphragmatic hernia / defect / agenesis
- Hydrocephaly
- Insterstitial / subtelomeric microdeletion / deletion
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Postaxial polydactyly of toes / fifth supernumerary toe
- Preaxial polydactyly (hand)
- Seizures / epilepsy / absences / spasms / status epilepticus
- Umbilical hernia


Familial thoracic aortic aneurysm and aortic dissection

(no data available)