Autosomal dominant Charcot-Marie-Tooth disease type 2K

MedGen UID:: 334294
•Concept ID:: C1842984
•: Disease or Syndrome

Synonym:	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2K
SNOMED CT:	Autosomal dominant Charcot-Marie-Tooth disease type 2K (719512003)
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:0020558
OMIM®:	606598; 607831
Orphanet:	ORPHA99944

Definition

A rare form of axonal Charcot-Marie-Tooth peripheral sensorimotor polyneuropathy with characteristics of a mild phenotype, onset during the second decade of life and very slow progression. Walking ability is retained. Caused by mutations in the GDAP1 gene (8q13.3), encoding a protein required for mitochondrial fission. [from SNOMEDCT_US]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCharcot-Marie-Tooth disease

Fetal anomaly
- Congenital Systemic Disorder
  - Abnormality of the nervous system
    - Hereditary motor and sensory neuropathy
      - Charcot-Marie-Tooth disease
        Charcot-Marie-Tooth disease type 2
        Autosomal dominant Charcot-Marie-Tooth disease type 2K

Recent clinical studies

Etiology

GDAP1 mutations are frequent among Brazilian patients with autosomal recessive axonal Charcot-Marie-Tooth disease.

Figueiredo FB, Silva WA Jr, Giuliatti S, Tomaselli PJ, Lourenço CM, Gouvêa SP, Covaleski APPM, Hallak JE, Marques W Jr
Neuromuscul Disord 2021 Jun;31(6):505-511. Epub 2021 Mar 20 doi: 10.1016/j.nmd.2021.03.005. PMID: 33903021

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Diagnosis

Oxidative stress contributes differentially to the pathophysiology of Charcot-Marie-Tooth disease type 2K.

Cassereau J, Chevrollier A, Codron P, Goizet C, Gueguen N, Verny C, Reynier P, Bonneau D, Lenaers G, Procaccio V
Exp Neurol 2020 Jan;323:113069. Epub 2019 Oct 23 doi: 10.1016/j.expneurol.2019.113069. PMID: 31655048

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Prognosis

A severe recessive and a mild dominant form of Charcot-Marie-Tooth disease associated with a newly identified Glu222Lys GDAP1 gene mutation.

Kabzińska D, Kotruchow K, Cegielska J, Hausmanowa-Petrusewicz I, Kochański A
Acta Biochim Pol 2014;61(4):739-44. Epub 2014 Oct 22 PMID: 25337607

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Clinical prediction guides

GDAP1 mutations are frequent among Brazilian patients with autosomal recessive axonal Charcot-Marie-Tooth disease.

Fu J, Dai S, Lu Y, Wu R, Wang Z, Yuan Y, Lv H
Neuromuscul Disord 2017 Aug;27(8):760-765. Epub 2017 Apr 20 doi: 10.1016/j.nmd.2017.04.001. PMID: 28495047

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Autosomal dominant Charcot-Marie-Tooth disease type 2K

Definition

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Prognosis

Clinical prediction guides

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Clinical resources

Consumer resources

Reviews

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