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1 OMIM reference -
14 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
10 signs/symptoms
Microform holoprosencephaly
Aniridia - cerebellar ataxia - intellectual deficit

CDON PAX6
DISP1
DLL1
FGF8
FOXH1
GAS1
GLI2
NODAL
PTCH1
SHH
SIX3
TDGF1
TGIF1
ZIC2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SIX3
(0.75)
PAX6



Citations in the biomedical literature:


Microform holoprosencephaly
CDON DISP1 DLL1 FGF8 FOXH1 GAS1
GLI2 NODAL PTCH1 SHH SIX3 TDGF1
TGIF1 ZIC2
Aniridia - cerebellar ataxia - intellectual deficit
PAX6



Microform holoprosencephaly
Aniridia - cerebellar ataxia - intellectual deficit

Synonym(s):
- Microform HPE

Synonym(s):
- Gillespie syndrome

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

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

Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: adult
Type of inheritance: multigenic/multifactorial
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal recessive

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

Aniridia - cerebellar ataxia - intellectual deficit

Very frequent
- Aniridia / iris hypoplasia
- Ataxia / incoordination / trouble of the equilibrium
- Autosomal recessive inheritance
- Expressionless face / amimia
- Intellectual deficit / mental / psychomotor retardation / learning disability

Frequent
- Hypotonia
- Movement disorder
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Occasional
- Anomalies of ear and hearing
- Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches


Microform holoprosencephaly

(no data available)