Cytoscape Web
Click node...

Hemimegalencephaly
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Neuroferritinopathy
1 OMIM reference -
1 associated gene
17 signs/symptoms
Hemimegalencephaly
Neuroferritinopathy

AKT3
(UniProt - OMIM)
 FTL
(UniProt - OMIM)
PIK3CA
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
PIK3CA
(0.63)
FTL


Citations in the biomedical literature:


Hemimegalencephaly
AKT3 PIK3CA
Neuroferritinopathy
FTL



Hemimegalencephaly
Neuroferritinopathy

Synonym(s):
- Unilateral megalencephaly
Synonym(s):
- Adult basal ganglia disease
- Ferritin-related neurodegeneration
- Hereditary ferritinopathy
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: elderly
Type of inheritance: autosomal dominant
External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C548080
Neuroferritinopathy

Very frequent
- Ataxia / incoordination / trouble of the equilibrium
- Autosomal dominant inheritance
- Chorea / athetosis / choreoathetosis / choreic syndrome
- Dystonia / torticollis / writer's cramp / blepharospasms
- Hypertonia / spasticity / rigidity / stiffness

Frequent
- Abnormal eye movements / oculomotor disorder
- Abnormal gait
- Execution movement disorder / dysmetria / bradykinesia / akinesia / apraxia
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Motor deficit / trouble

Occasional
- Alexia / agraphia / writing / reading troubles
- Constipation
- Elocution disorders / dysarthria / dysphonia
- Hypotension
- Obnubilation / coma / lethargia / desorientation
- Psychic / psychomotor regression / dementia / intellectual decline
- Tremor


Hemimegalencephaly

(no data available)