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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
4 OMIM references -
4 associated genes
9 signs/symptoms
Charcot-Marie-Tooth disease type 1A
Familial or sporadic hemiplegic migraine

PMP22 ATP1A2
CACNA1A
PRRT2
SCN1A


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PMP22
(0.63)
ATP1A2



Citations in the biomedical literature:


Charcot-Marie-Tooth disease type 1A
PMP22
Familial or sporadic hemiplegic migraine
ATP1A2 CACNA1A PRRT2 SCN1A



Charcot-Marie-Tooth disease type 1A
Familial or sporadic hemiplegic migraine

Synonym(s):
- CMT1A
- Microduplication 17p12

Synonym(s):
(no synonyms)

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

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant

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

Familial or sporadic hemiplegic migraine

Very frequent
- Autosomal dominant inheritance
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Movement disorder

Frequent
- Ataxia / incoordination / trouble of the equilibrium
- Nystagmus

Occasional
- EEG anomalies
- Retinitis pigmentosa / retinal pigmentary changes
- Sensorineural deafness / hearing loss
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia


Charcot-Marie-Tooth disease type 1A

(no data available)