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Carpenter syndrome
2 OMIM references -
2 associated genes
10 connected diseases
No signs/symptoms info
Disease Type of connection
Spinocerebellar ataxia type 7
Alternating hemiplegia of childhood
Benign paroxysmal torticollis of infancy
Familial or sporadic hemiplegic migraine
Familial paroxysmal ataxia
Spinocerebellar ataxia type 6
Cystic fibrosis
Dentatorubral pallidoluysian atrophy
Gray platelet syndrome
Growth delay due to insulin-like growth factor I resistance
Synonym(s):
- ACPS 2
- Acrocephalopolysyndactyly type 2
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
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 -
No MeSH references
Gene symbol UniProt reference OMIM reference
MEGF8 Q7Z7M0604267
RAB23 Q9ULC3606144
No signs/symptoms info available.