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1 OMIM reference -
1 associated gene
24 signs/symptoms
PROTEIN INTERACTIONS: 1
7 OMIM references -
7 associated genes
No signs/symptoms info
Greig cephalopolysyndactyly syndrome
Isolated anophthalmia - microphthalmia

GLI3 ALDH1A3
GDF3
OTX2
PRSS56
RAX
SOX2
VSX2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GLI3
(0.63)
SOX2



Citations in the biomedical literature:


Greig cephalopolysyndactyly syndrome
GLI3
Isolated anophthalmia - microphthalmia
ALDH1A3 GDF3 OTX2 PRSS56 RAX SOX2
VSX2



Greig cephalopolysyndactyly syndrome
Isolated anophthalmia - microphthalmia

Synonym(s):
- GCPS

Synonym(s):
- Clinical anophthalmia
- Isolated pure microphthalmia
- Primitive anophthalmia

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
(no data available)

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

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: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: C537300
External references:
7 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


Isolated anophthalmia - microphthalmia

(no data available)