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1 OMIM reference -
1 associated gene
24 signs/symptoms
PROTEIN INTERACTIONS: 1
14 associated genes
No signs/symptoms info
Greig cephalopolysyndactyly syndrome
Midline interhemispheric variant of holoprosencephaly

GLI3 CDON
DISP1
DLL1
FGF8
FOXH1
GAS1
GLI2
NODAL
PTCH1
SHH
SIX3
TDGF1
TGIF1
ZIC2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GLI3
(0.85)
ZIC2



Citations in the biomedical literature:


Greig cephalopolysyndactyly syndrome
GLI3
Midline interhemispheric variant of holoprosencephaly
CDON DISP1 DLL1 FGF8 FOXH1 GAS1
GLI2 NODAL PTCH1 SHH SIX3 TDGF1
TGIF1 ZIC2



Greig cephalopolysyndactyly syndrome
Midline interhemispheric variant of holoprosencephaly

Synonym(s):
- GCPS

Synonym(s):
- MIH
- MIH type HPE
- MIHF
- MIHV
- Middle interhemispheric fusion variant
- Middle interhemispheric variant of holoprosencephaly
- Syntelencephaly

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

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: -
Type of inheritance: multigenic/multifactorial

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


Midline interhemispheric variant of holoprosencephaly

(no data available)