Charcot-Marie-Tooth disease type 1A

Term ID

DOID:0110148

Synonyms

• autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A
• Charcot-Marie-Tooth neuropathy type 1A
• CMT1A
• hereditary motor and sensory neuropathy 1A
• HMSN1A
• microduplication 17p12

Definition

A Charcot-Marie-Tooth disease type 1 that has_material_basis_in duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (PMP22). (2)

References

• GARD:1245
• ICD10CM:G60.0
• OMIM:118220
• ORDO:101081

Ontology

Human Disease   ( DOID:0110148 )