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Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation

MedGen UID:
1633598
Concept ID:
C4707173
Disease or Syndrome
Synonyms: autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to kinesin family member 5A mutation; CMT2 due to KIF5A mutation
SNOMED CT: Autosomal dominant Charcot-Marie-Tooth disease type 2 due to kinesin family member 5A mutation (764730007); Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation (764730007)
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.
 
Monarch Initiative: MONDO:0017940
Orphanet: ORPHA324611

Definition

A rare form of axonal peripheral sensorimotor neuropathy with characteristics of classical Charcot-Marie-Tooth type 2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAutosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation

Recent clinical studies

Diagnosis

Dohrn MF, Glöckle N, Mulahasanovic L, Heller C, Mohr J, Bauer C, Riesch E, Becker A, Battke F, Hörtnagel K, Hornemann T, Suriyanarayanan S, Blankenburg M, Schulz JB, Claeys KG, Gess B, Katona I, Ferbert A, Vittore D, Grimm A, Wolking S, Schöls L, Lerche H, Korenke GC, Fischer D, Schrank B, Kotzaeridou U, Kurlemann G, Dräger B, Schirmacher A, Young P, Schlotter-Weigel B, Biskup S
J Neurochem 2017 Dec;143(5):507-522. Epub 2017 Nov 7 doi: 10.1111/jnc.14217. PMID: 28902413

Prognosis

Pareyson D, Saveri P, Sagnelli A, Piscosquito G
Neurosci Lett 2015 Jun 2;596:66-77. Epub 2015 Apr 3 doi: 10.1016/j.neulet.2015.04.001. PMID: 25847151
Crimella C, Baschirotto C, Arnoldi A, Tonelli A, Tenderini E, Airoldi G, Martinuzzi A, Trabacca A, Losito L, Scarlato M, Benedetti S, Scarpini E, Spinicci G, Bresolin N, Bassi MT
Clin Genet 2012 Aug;82(2):157-64. Epub 2011 Jun 21 doi: 10.1111/j.1399-0004.2011.01717.x. PMID: 21623771

Clinical prediction guides

Crimella C, Baschirotto C, Arnoldi A, Tonelli A, Tenderini E, Airoldi G, Martinuzzi A, Trabacca A, Losito L, Scarlato M, Benedetti S, Scarpini E, Spinicci G, Bresolin N, Bassi MT
Clin Genet 2012 Aug;82(2):157-64. Epub 2011 Jun 21 doi: 10.1111/j.1399-0004.2011.01717.x. PMID: 21623771

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