Charcot-Marie-Tooth disease type 1B

Charcot-Marie-Tooth disease type 1B

Definition

A sensorineural peripheral polyneuropathy affecting approximately 1 in 2,500 individuals, and is the most common inherited disorder of the peripheral nervous system. Autosomal dominant, autosomal recessive, and X-linked forms have been recognized.

Also known as Charcot-Marie-Tooth disease type 1 caused by mutation in MPZ, Charcot-Marie-Tooth disease, type 1B, CMT1B, HMSN IB, HMSN1B, MPZ Charcot-Marie-Tooth disease type 1 — per MONDO

Also identified as

Affected Organs

Organ Involvement Source
Musculature Disease Has Associated Anatomic Site NCIT · CC BY 4.0
Musculature Disease Has Primary Anatomic Site NCIT · CC BY 4.0
Musculoskeletal system Disease Has Associated Anatomic Site NCIT · CC BY 4.0
Musculoskeletal system Disease Has Primary Anatomic Site NCIT · CC BY 4.0
Nervous system Disease Has Associated Anatomic Site NCIT · CC BY 4.0
Nervous system Disease Has Primary Anatomic Site NCIT · CC BY 4.0
Peripheral nervous system Disease Has Associated Anatomic Site NCIT · CC BY 4.0
Peripheral nervous system Disease Has Primary Anatomic Site NCIT · CC BY 4.0