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2 OMIM references -
4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
2 associated genes
No signs/symptoms info
Alternating hemiplegia of childhood
Carpenter syndrome

ATP1A2 MEGF8
ATP1A3 RAB23
CACNA1A
SLC1A3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CACNA1A
(0.68)
MEGF8



Citations in the biomedical literature:


Alternating hemiplegia of childhood
ATP1A2 ATP1A3 CACNA1A SLC1A3
Carpenter syndrome
MEGF8 RAB23



Alternating hemiplegia of childhood
Carpenter syndrome

Synonym(s):
- AHC
- Alternating hemiplegia in childhood

Synonym(s):
- ACPS 2
- Acrocephalopolysyndactyly type 2

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

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

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

External references:
2 OMIM references -
1 MeSH reference: C536589
External references:
2 OMIM references -
No MeSH references

No signs/symptoms info available.