Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 (CMTX2)

Alias:
Charcot-Marie-Tooth Disease X-Linked Recessive 2
Cmtx2
X-Linked Charcot-Marie-Tooth Disease Type 2
Charcot-Marie-Tooth Disease, X-Linked Type 2, Recessive
Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 2
Charcot-Marie-Tooth Neuropathy X-Linked Recessive 2
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
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 neuropathy, hereditary sensory and autonomic, type ic. 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 EXT1 causes exostoses 1, TRPS2 and CHDS and 11p11.2 copy number variation syndrome. Related phenotypes are gait disturbance and areflexia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLD
Infant
<1/1000000
10
90
2

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
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