Autosomal dominant Charcot-Marie-Tooth disease type 2M(CMT2M)

MedGen UID:: 930341
•Concept ID:: C4304672
•: Disease or Syndrome

Synonyms:	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2M; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M; Charcot-Marie-Tooth disease, type 2M; CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2M; CMT2M
SNOMED CT:	Autosomal dominant Charcot-Marie-Tooth disease type 2M (719514002)
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Monarch Initiative:	MONDO:0016431
Orphanet:	ORPHA228179

Definition

A form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy with characteristics of congenital pstosis and early cataract. Associated with a mildly progressive peripheral neuropathy of variable onset from birth to the sixth decade, pes cavus, reduced to absent ankle tendon reflexes and sometimes neutropenia. [from SNOMEDCT_US]