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Carpenter syndrome
2 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Benign paroxysmal torticollis of infancy
1 associated gene
No signs/symptoms info
Carpenter syndrome
Benign paroxysmal torticollis of infancy

MEGF8
(UniProt - OMIM)
 CACNA1A
(UniProt - OMIM)
RAB23
(UniProt - OMIM)

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


Citations in the biomedical literature:


Carpenter syndrome
MEGF8 RAB23
Benign paroxysmal torticollis of infancy
CACNA1A



Carpenter syndrome
Benign paroxysmal torticollis of infancy

Synonym(s):
- ACPS 2
- Acrocephalopolysyndactyly type 2
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: sporadic
External references:
2 OMIM references -
No MeSH references
External references:
No OMIM references
No MeSH references
No signs/symptoms info available.