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1,051 Possible Causes for Charcot-Marie-Tooth Disease Type 2

  • Muscular Dystrophy-Dystroglycanopathy Type C7

    disease type 2 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation Autosomal[se-atlas.de] disease X-linked Charcot-Marie-Tooth disease type 1 X-linked Charcot-Marie-Tooth disease type 2 X-linked Charcot-Marie-Tooth disease type 3 X-linked Charcot-Marie-Tooth disease[se-atlas.de] […] lipodystrophy Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons Osteofibrous dysplasia Progressive familial intrahepatic cholestasis 1 Charcot-Marie-Tooth[checkrare.com]

  • Charcot-Marie-Tooth Disease Type 2S

    Term Name: Charcot-Marie-Tooth disease type 2 Search Ontology: Synonyms: hereditary motor and sensory neuropathy Guadalajara neuronal type hereditary motor and sensory neuropathy[zfin.org] […] in Charcot-Marie-Tooth disease type 2 .[miami.pure.elsevier.com] Abstract Objective: To investigate the clinical and electrophysiologic phenotype of CharcotMarieTooth disease (CMT) Type 2 in a large number of affected families.[neurology.org]

  • Charcot-Marie-Tooth Disease

    disease type 2 (CMT2).[ncbi.nlm.nih.gov] […] with Charcot-Marie-Tooth disease type 2 (CMT-2) from which all but one affected member had straight hair.[ncbi.nlm.nih.gov] We report 2 family members with chronic, slowly progressive, distal axonal neuropathy, or Charcot-Marie-Tooth disease type 2 (CMT2) and episodic weakness resembling periodic[ncbi.nlm.nih.gov]

  • Distal Hereditary Motor Neuropathy Type 1

    marie tooth disease Charcot marie tooth disease, type 1 Charcot marie tooth disease, type 2 Charcot marie tooth disease, type 3 Charcot marie tooth disease, type 4 Charcot-marie-tooth[icd10data.com] Screening of the early growth response 2 gene in Japanese patients with Charcot-Marie-Tooth disease type 1. J Neurol Sci. 2003. 210:61- 64.[emedicine.medscape.com] A novel TFG mutation causes Charcot-Marie-Tooth disease type 2 and impairs TFG function.[journals.plos.org]

  • Hereditary Motor and Sensory Neuropathy

    This is the most common type of CMT. HMSN2 CharcotMarieTooth disease type 2 2343 (multiple) Neuronal type: symptoms similar to type1, onset in adolescence.[en.wikipedia.org] marie tooth disease Charcot marie tooth disease, type 1 Charcot marie tooth disease, type 2 Charcot marie tooth disease, type 3 Charcot marie tooth disease, type 4 Charcot-marie-tooth[icd10data.com] Mersiyanova IV et al . (2000) A new variant of CharcotMarieTooth disease type 2 is probably the result of a mutation in the neurofilament-light gene .[nature.com]

  • Young Adult-Onset Distal Hereditary Motor Neuropathy

    type 2A (CMT2A), Charcot-Marie-Tooth disease type 2B (CMT2B), Charcot-Marie-Tooth disease type 2D (CMT2D), Charcot-Marie-Tooth disease type 2E (CMT2E), CMT2, amyotrophic[emedicine.medscape.com] A novel TFG mutation causes Charcot-Marie-Tooth disease type 2 and impairs TFG function.[journals.plos.org] Distal HMN closely resembles Charcot-Marie-Tooth disease type 2 (CMT2), apart from the absence of the sensory abnormalities, and is difficult to distinguish from CMT2, because[nature.com]

  • Boucher-Neuhäuser Syndrome

    disease type 2.[wwww.unboundmedicine.com] […] components, we set out to analyse an additional 538 exomes from families with ataxia (with and without hypogonadism), pure and complex hereditary spastic paraplegia, and CharcotMarieTooth[spatax.wordpress.com] […] components, we set out to analyse an additional 538 exomes from families with ataxia (with and without hypogonadism), pure and complex hereditary spastic paraplegia, and Charcot-Marie-Tooth[wwww.unboundmedicine.com]

  • Distal Hereditary Motor Neuropathy Type 5

    marie tooth disease Charcot marie tooth disease, type 1 Charcot marie tooth disease, type 2 Charcot marie tooth disease, type 3 Charcot marie tooth disease, type 4 Charcot-marie-tooth[icd10data.com] A novel TFG mutation causes Charcot-Marie-Tooth disease type 2 and impairs TFG function.[journals.plos.org] VA, Charcot-Marie-Tooth disease type 2, Silver syndrome, Silver spastic paraplegia syndrome, Spastic paraplegia 17 AR 34 50 CHCHD10 Myopathy, isolated mitochondrial, Frontotemporal[blueprintgenetics.com]

  • 2-Aminoadipic 2-Oxoadipic Aciduria

    (PMID: 23141293) Danhauser K … Kölker S (American journal of human genetics 2012) 3 4 60 A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large[genecards.org] […] lker S A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree.[genscript.com] Cell 158:1415–1430 CrossRef PubMed PubMedCentral Google Scholar Xu W, Gu M, Sun L et al (2012) A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a[link.springer.com]

  • Amyotrophic Lateral Sclerosis Type 5

    Mtochondrial disorders related to Charcot-Marie-Tooth disease type 2 were also excluded by sequencing POLG and TYMP genes.[moh-it.pure.elsevier.com] Mitochondrial disorders related to Charcot-Marie-Tooth disease type 2 were also excluded by sequencing POLG and TYMP genes.[ncbi.nlm.nih.gov] An additional locus for autosomal recessive Charcot-Marie-Tooth disease type 2H on chromosome 8q13-21.1 was excluded by linkage analysis.[moh-it.pure.elsevier.com]

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