Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Charcot-Marie-Tooth disease

Charcot-Marie-Tooth disease is a group of hereditary polyneuropathies (motor and sensory). Inheritance can be autosomal dominant, recessive or x-linked. The INF2 associated form is characterized by autosomal dominant inheritance and nephropathy.

Systematic

Hereditary neurological disorders
Alzheimer disease
Arts syndrome
Autism
Autosomal dominant cerebellar ataxia, deafness and narcolepsy
Autosomal recessive spastic paraplegia type 44
Brain malformations with urinary tract defects
Brain small vessel disease with hemorrhage
Brunner syndrome
Charcot-Marie-Tooth disease
INF2
X-linked Charcot-Marie-Tooth disease type 5
PRPS1
Congenital insensitivity to pain with anhidrosis
Hereditary benign chorea
Hereditary distal motor neuron neuropathy type 5A
Hereditary muscle diseases
Hereditary sensory and autonomic neuropathy type 2A
Hereditary sensory neuropathy type 1E
Hypokalemic periodic paralysis 1
Hypomyelinating Leukodystrophy 2
Idiopathic basal ganglia calcification 1
Intellectual disability-severe speech delay-mild dysmorphism syndrome
Migraine
Nemaline myopathy 5
Porencephaly
Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly
Spastic paraplegia 17 with amyotrophy of hands and feet
Susceptibility to glioma
Vascular dementia
X-linked syndromic mental retardation 13

References:

1.

Boyer O et al. (2011) INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy.

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2.

Hanson PA et al. (1970) Distal muscle wasting, nephritis, and deafness.

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3.

Lemieux G et al. (1967) Charcot-Marie-Tooth disease and nephritis.

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4.

OMIM.ORG article

Omim 614455 [^]
5.

Orphanet article

Orphanet ID 228374 [^]
6.

Wikipedia article

Wikipedia EN (Charcot–Marie–Tooth_disease) [^]
Update: April 29, 2019