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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
Ataxia-pancytopenia 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
Epilepsy syndrome
Hereditary benign chorea
Hereditary brain tumors
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
Tuberous sclerosis complex
Vascular dementia
X-linked syndromic mental retardation 13

References:

1.

Kehrer-Sawatzki H et al. (2002) Molecular characterisation of t(17;22)(q11.2;q11.2) is not consistent with NF1 gene duplication.

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2.

None (2008) New links to the pathogenesis of Crohn disease provided by genome-wide association scans.

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3.

Pang YH et. al. (2007) Increased expression and activation of IL-12-induced Stat4 signaling in the mucosa of ulcerative colitis patients.

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4.

Shugart YY et. al. (2008) An SNP linkage scan identifies significant Crohn's disease loci on chromosomes 13q13.3 and, in Jewish families, on 1p35.2 and 3q29.

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5.

Franke A et. al. (2008) Replication of signals from recent studies of Crohn's disease identifies previously unknown disease loci for ulcerative colitis.

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6.

Zhernakova A et. al. (2008) Genetic analysis of innate immunity in Crohn's disease and ulcerative colitis identifies two susceptibility loci harboring CARD9 and IL18RAP.

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Update: Aug. 14, 2020
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