CMTX2
MCID: CHR641
MIFTS: 34
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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:Orphanet epidemiological data:58
x-linked charcot-marie-tooth disease type 2
Inheritance: X-linked recessive; OMIM:56
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
Inheritance:
x-linked recessive HPO:31
charcot-marie-tooth disease, x-linked recessive, 2:
Onset and clinical course infantile onset Inheritance x-linked recessive inheritance Classifications:
MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases Metabolic diseases Anatomical: Neuronal diseases Ear diseases Eye diseases Muscle diseases Mental diseases
ICD10:
32
33
Orphanet: 58
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Disease Ontology :
12
A Charcot-Marie-Tooth disease X-linked that has material basis in variation in the region Xp22.2.
MalaCards based summary : Charcot-Marie-Tooth Disease, X-Linked Recessive, 2, also known as charcot-marie-tooth neuropathy, x-linked recessive, 2, is related to x-linked charcot-marie-tooth disease and charcot-marie-tooth disease. An important gene associated with Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 is CMTX2 (Charcot-Marie-Tooth Neuropathy, X-Linked 2 (Recessive)). Related phenotypes are sensory neuropathy and areflexia Wikipedia : 74 Charcot-Marie-Tooth disease (CMT) is a hereditary motor and sensory neuropathies of the peripheral... more... |
Human phenotypes related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 2:58 31 (show all 26)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:302801MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 2:45
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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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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:
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