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Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
1 associated gene
12 connected diseases
No signs/symptoms info
Disease Type of connection
Autosomal dominant spastic paraplegia type 10
Brugada syndrome
Hypokalemic periodic paralysis
Proximal spinal muscular atrophy type 1
Proximal spinal muscular atrophy type 2
Proximal spinal muscular atrophy type 3
Proximal spinal muscular atrophy type 4
Uveal coloboma - cleft lip and palate - intellectual deficit
Dedifferentiated liposarcoma
Dehydratase deficiency
Microcephaly - lymphedema - chorioretinopathy
Well-differentiated liposarcoma
Synonym(s):
- CMT due to KIF5A mutation
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: unknown
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
KIF5A Q12840602821
No signs/symptoms info available.