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CMTX2
MCID: CHR641
MIFTS: 38
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Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 (CMTX2)
Categories:
Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Charcot-Marie-Tooth Disease, X-Linked Recessive, 2:
Characteristics:Inheritance:
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2:
X-linked recessive 57
X-Linked Charcot-Marie-Tooth Disease Type 2:
X-linked recessive 58
Prevelance:
X-Linked Charcot-Marie-Tooth Disease Type 2:
<1/1000000 (Worldwide) 58
Age Of Onset:
X-Linked Charcot-Marie-Tooth Disease Type 2:
Childhood,Infancy 58
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
onset in infancy usually begins in feet and legs (peroneal distribution) upper limb involvement may occur later both demyelinating and axonal features see also cmtx1 and cmt3x Classifications:
MalaCards categories:
Global: Fetal diseases Rare diseases Genetic diseases Metabolic diseases Anatomical: Neuronal diseases Ear diseases Muscle diseases Eye diseases Mental diseases
ICD10:
31
32
Orphanet: 58
Rare neurological diseases
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis External Ids:
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Orphanet: 58 X-linked Charcot-Marie-Tooth disease type 2 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infantile- to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals. MalaCards based summary: Charcot-Marie-Tooth Disease, X-Linked Recessive, 2, also known as charcot-marie-tooth disease x-linked recessive 2, is related to charcot-marie-tooth disease and charcot-marie-tooth disease, x-linked recessive, 5. An important gene associated with Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 is CMTX2 (Charcot-Marie-Tooth Neuropathy, X-Linked 2 (Recessive)), and among its related pathways/superpathways are Defective EXT2 causes exostoses 2 and EGR2 and SOX10-mediated initiation of Schwann cell myelination. Related phenotypes are areflexia and pes cavus Disease Ontology: 11 A Charcot-Marie-Tooth disease X-linked that has material basis in variation in the region Xp22.2. Wikipedia: 75 Charcot-Marie-Tooth disease (CMT) is a hereditary motor and sensory neuropathy of the peripheral nervous... more... |
Human phenotypes related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 2:58 30 (show all 32)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:302801 (Updated 08-Dec-2022)GenomeRNAi Phenotypes related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 according to GeneCards Suite gene sharing:25
MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 2:45
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Cochrane evidence based reviews: charcot-marie-tooth disease, x-linked recessive, 2 |
Genetic tests related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 2:
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Articles related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 2:
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Genes related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 (1 elite genes):(show all 11) - Elite gene
- Cancer Census gene in COSMIC
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Search
GEO
for disease gene expression data for Charcot-Marie-Tooth Disease, X-Linked Recessive, 2.
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Biological processes related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 according to GeneCards Suite gene sharing:(show all 13)
Molecular functions related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 according to GeneCards Suite gene sharing:
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