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4 OMIM references -
2 associated genes
6 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Moyamoya disease
Autosomal dominant Charcot-Marie-Tooth disease type 2N

ACTA2 AARS
RNF213


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ACTA2
(0.49)
AARS



Citations in the biomedical literature:


Moyamoya disease
ACTA2 RNF213
Autosomal dominant Charcot-Marie-Tooth disease type 2N
AARS



Moyamoya disease
Autosomal dominant Charcot-Marie-Tooth disease type 2N

Synonym(s):
(no synonyms)

Synonym(s):
- CMT2N

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

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

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant

External references:
4 OMIM references -
2 MeSH references: C536991 / D009072
External references:
1 OMIM reference -
No MeSH references

Moyamoya disease

Very frequent
- Autosomal recessive inheritance
- Vascular anomalies of skin / mucosae

Frequent
- Cerebral vascular anomalies
- Dilated cerebral ventricles without hydrocephaly
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Seizures / epilepsy / absences / spasms / status epilepticus



Autosomal dominant Charcot-Marie-Tooth disease type 2N

(no data available)