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1 OMIM reference -
14 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
33 signs/symptoms
Microform holoprosencephaly
CADASIL

CDON NOTCH3
DISP1
DLL1
FGF8
FOXH1
GAS1
GLI2
NODAL
PTCH1
SHH
SIX3
TDGF1
TGIF1
ZIC2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
DLL1
(0.86)
NOTCH3



Citations in the biomedical literature:


Microform holoprosencephaly
CDON DISP1 DLL1 FGF8 FOXH1 GAS1
GLI2 NODAL PTCH1 SHH SIX3 TDGF1
TGIF1 ZIC2
CADASIL
NOTCH3



Microform holoprosencephaly
CADASIL

Synonym(s):
- Microform HPE

Synonym(s):
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
- Hereditary multi-infarct dementia

Classification (Orphanet):
(no data available)
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease

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

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: 1-9 / 100 000
Average age onset: adulthood
Average age of death: adult
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D046589

CADASIL

Very frequent
- Autosomal dominant inheritance
- Facial pain / cephalalgia / migraine
- Fever / chilling
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Motor deficit / trouble
- Obnubilation / coma / lethargia / desorientation
- Psychic / behavioural troubles
- Psychic / psychomotor regression / dementia / intellectual decline
- Retinal vascular anomalies / retinal telangiectasia
- Sensitive trouble / deficit
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Transient amaurosis / acute visual trouble

Frequent
- Abnormal gait
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Cranial nerves palsy
- EEG anomalies
- Hypertonia / spasticity / rigidity / stiffness
- Mild visual loss / impaired visual acuity
- Transient cerebral ischemia / stroke
- Troubles of memory / amnesia / hypermnesia

Occasional
- Arterial atheroma / precocious atherosclerosis / arteriosclerosis
- Chronic arterial hypertension
- Early death / lethality
- Extrapyramidal syndrome
- Hearing loss / hypoacusia / deafness
- Hypoglycemia
- Intracranial / cerebral / meningeal hemorrhage
- Mucosal / cutaneous hemorrhage
- Peripheral neuropathy
- Repeat respiratory infections
- Seizures / epilepsy / absences / spasms / status epilepticus
- Varices / varicous veins / venous insufficiency


Microform holoprosencephaly

(no data available)