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.
|Hereditary neurological disorders|
|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|
|X-linked Charcot-Marie-Tooth disease type 5|
|Congenital insensitivity to pain with anhidrosis|
|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|
|Nemaline myopathy 5|
|Severe neonatal-onset encephalopathy with microcephaly|
|Spastic paraplegia 17 with amyotrophy of hands and feet|
|Susceptibility to glioma|
|Tuberous sclerosis complex|
|X-linked syndromic mental retardation 13|
Kehrer-Sawatzki H et al. (2002) Molecular characterisation of t(17;22)(q11.2;q11.2) is not consistent with NF1 gene duplication.
None (2008) New links to the pathogenesis of Crohn disease provided by genome-wide association scans.
Pang YH et. al. (2007) Increased expression and activation of IL-12-induced Stat4 signaling in the mucosa of ulcerative colitis patients.
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.
Franke A et. al. (2008) Replication of signals from recent studies of Crohn's disease identifies previously unknown disease loci for ulcerative colitis.
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.