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Charcot-Marie-Tooth disease type 1A
1 OMIM reference -
1 associated gene
22 connected diseases
No signs/symptoms info
Disease Type of connection
Dejerine-Sottas syndrome
Roussy-Lévy syndrome
Acute inflammatory demyelinating polyradiculoneuropathy
Charcot-Marie-Tooth disease type 1E
Hereditary neuropathy with liability to pressure palsies
Autosomal dominant Charcot-Marie-Tooth disease type 2I
Autosomal dominant Charcot-Marie-Tooth disease type 2J
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
Charcot-Marie-Tooth disease type 1B
Infantile Refsum disease
Neonatal adrenoleukodystrophy
Zellweger syndrome
Alternating hemiplegia of childhood
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Boomerang dysplasia
Distal myopathy with posterior leg and anterior hand involvement
Familial or sporadic hemiplegic migraine
Muscle filaminopathy
Spondylocarpotarsal synostosis
Synonym(s):
- CMT1A
- Microduplication 17p12
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
PMP22 Q01453601097
No signs/symptoms info available.