| D009154 |
Mutation |
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. |
Mutations |
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| D002607 |
Charcot-Marie-Tooth Disease |
A hereditary motor and sensory neuropathy transmitted most often as an autosomal dominant trait and characterized by progressive distal wasting and loss of reflexes in the muscles of the legs (and occasionally involving the arms). Onset is usually in the second to fourth decade of life. This condition has been divided into two subtypes, hereditary motor and sensory neuropathy (HMSN) types I and II. HMSN I is associated with abnormal nerve conduction velocities and nerve hypertrophy, features not seen in HMSN II. (Adams et al., Principles of Neurology, 6th ed, p1343) |
Atrophy, Muscular, Peroneal,HMSN Type I,HMSN Type II,Hereditary Motor and Sensory-Neuropathy Type II,Hereditary Motor, and Sensory Neuropathy Type I,Muscular Atrophy, Peroneal,Peroneal Muscular Atrophy,Roussy-Levy Syndrome,Charcot-Marie Disease,Charcot-Marie-Tooth Disease, Autosomal Dominant, With Focally Folded Myelin Sheaths, Type 1A,Charcot-Marie-Tooth Disease, Autosomal Dominant, with Focally Folded Myelin Sheaths, Type 1B,Charcot-Marie-Tooth Disease, Demyelinating, Type 1A,Charcot-Marie-Tooth Disease, Demyelinating, Type 1B,Charcot-Marie-Tooth Disease, Slow Nerve Conduction Type, Linked To Duffy,Charcot-Marie-Tooth Disease, Type 1A,Charcot-Marie-Tooth Disease, Type 1B,Charcot-Marie-Tooth Disease, Type I,Charcot-Marie-Tooth Disease, Type IA,Charcot-Marie-Tooth Disease, Type IB,Charcot-Marie-Tooth Disease, Type II,Charcot-Marie-Tooth Hereditary Neuropathy,Charcot-Marie-Tooth Neuropathy, Type 1A,Charcot-Marie-Tooth Neuropathy, Type 1B,Charcot-Marie-Tooth Syndrome,HMN Distal Type I,HMSN 1A,HMSN 1B,HMSN I,HMSN IA,HMSN IB,HMSN II,HMSN1A,HMSN1B,Hereditary Areflexic Dystasia,Hereditary Motor And Sensory Neuropathy IB,Hereditary Motor and Sensory Neuropathy 1A,Hereditary Motor and Sensory Neuropathy 1B,Hereditary Motor and Sensory Neuropathy IA,Hereditary Type I Motor and Sensory Neuropathy,Neuropathy, Type I Hereditary Motor and Sensory,Neuropathy, Type II Hereditary Motor and Sensory,Roussy Levy Hereditary Areflexic Dystasia,Roussy-Levy Disease,Roussy-Levy Hereditary Areflexic Dystasia,Areflexic Dystasia, Hereditary,Areflexic Dystasias, Hereditary,Atrophies, Peroneal Muscular,Atrophy, Peroneal Muscular,Charcot Marie Disease,Charcot Marie Tooth Disease,Charcot Marie Tooth Disease, Type 1A,Charcot Marie Tooth Disease, Type 1B,Charcot Marie Tooth Disease, Type I,Charcot Marie Tooth Disease, Type IA,Charcot Marie Tooth Disease, Type IB,Charcot Marie Tooth Disease, Type II,Charcot Marie Tooth Hereditary Neuropathy,Charcot Marie Tooth Neuropathy, Type 1A,Charcot Marie Tooth Neuropathy, Type 1B,Charcot Marie Tooth Syndrome,Dystasia, Hereditary Areflexic,Dystasias, Hereditary Areflexic,Hereditary Areflexic Dystasias,Hereditary Motor and Sensory Neuropathy Type II,Hereditary Neuropathy, Charcot-Marie-Tooth,Muscular Atrophies, Peroneal,Peroneal Muscular Atrophies,Roussy Levy Disease,Roussy Levy Syndrome,Syndrome, Charcot-Marie-Tooth,Syndrome, Roussy-Levy |
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| D006801 |
Humans |
Members of the species Homo sapiens. |
Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man |
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| D000073359 |
Exome Sequencing |
Techniques used to determine the sequences of EXONS of an organism or individual. |
Complete Exome Sequencing,Complete Transcriptome Sequencing,Whole Exome Sequencing,Whole Transcriptome Sequencing,Complete Exome Sequencings,Exome Sequencing, Complete,Exome Sequencing, Whole,Exome Sequencings, Complete,Sequencing, Complete Exome,Sequencing, Complete Transcriptome,Sequencing, Exome,Sequencing, Whole Exome,Sequencing, Whole Transcriptome,Transcriptome Sequencing, Complete,Transcriptome Sequencing, Whole,Transcriptome Sequencings, Complete |
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| D000483 |
Alleles |
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product. |
Allelomorphs,Allele,Allelomorph |
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| D015419 |
Spastic Paraplegia, Hereditary |
A group of inherited diseases that share similar phenotypes but are genetically diverse. Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have been identified. Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. Peripheral sensory neurons may be affected in the later stages of the disease. (J Neurol Neurosurg Psychiatry 1998 Jan;64(1):61-6; Curr Opin Neurol 1997 Aug;10(4):313-8) |
Hereditary Spastic Paraplegia,X-Linked, Spastic Paraplegia, Hereditary,Autosomal Dominant Hereditary Spastic Paraplegia,Autosomal Dominant Spastic Paraplegia Hereditary,Autosomal Recessive Hereditary Spastic Paraplegia,Autosomal Recessive Spastic Paraplegia, Hereditary,CMT with Pyramidal Features,Charcot-Marie-Tooth Disease with Pyramidal Features, Autosomal Dominant,HMSN 5,HMSN Type V,HMSN V,HMSN V (Hereditary Motor and Sensory Neuropathy Type V),Hereditary Autosomal Dominant Spastic Paraplegia,Hereditary Autosomal Recessive Spastic Paraplegia,Hereditary Motor And Sensory Neuropathy V,Hereditary Motor and Sensory Neuropathy 5,Hereditary Motor-Sensory Neuropathy with Pyramidal Signs,Hereditary Spastic Paraplegia, Autosomal Recessive,Hereditary X-Linked Recessive Spastic Paraplegia,Hereditary, Spastic Paraplegia, Autosomal Dominant,Hereditary, Spastic Paraplegia, X-Linked Recessive,Hypertrophic Motor-Sensory Neuropathy-Spastic Paraplegia,Paraplegia, Spastic, Hereditary,Peroneal Muscular Atrophy with Pyramidal Features, Autosomal Dominant,Spastic Paraplegia 2,Spastic Paraplegia Type 2,Spastic Paraplegia, Autosomal Dominant, Hereditary,Spastic Paraplegia, Autosomal Recessive, Hereditary,Spastic Paraplegia, Hereditary, Autosomal Dominant,Spastic Paraplegia, Hereditary, Autosomal Recessive,Spastic Paraplegia, Hereditary, X-Linked Recessive,Spastic Paraplegia, X-Linked Recessive, Hereditary,Spastic Paraplegia-Hypertrophic Motor-Sensory Neuropathy,Type V Hereditary Motor and Sensory Neuropathy,X Linked Recessive Hereditary Spastic Paraplegia,X-linked Recessive Hereditary Spastic Paraplegia,Charcot Marie Tooth Disease with Pyramidal Features, Autosomal Dominant,Hereditary Motor Sensory Neuropathy with Pyramidal Signs,Hereditary Spastic Paraplegias,Hereditary X Linked Recessive Spastic Paraplegia,Hypertrophic Motor Sensory Neuropathy Spastic Paraplegia,Paraplegia, Hereditary Spastic,Paraplegias, Hereditary Spastic,Spastic Paraplegia Hypertrophic Motor Sensory Neuropathy,Spastic Paraplegias, Hereditary,Type V, HMSN |
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