Charcot-Marie-Tooth Disease X-Linked Recessive 4 (CMTX4)

Alias:
X-Linked Charcot-Marie-Tooth Disease Type 4
Cowchock Syndrome
Cmtx4
Cmt4x
Axonal Motor Sensory Neuropathy with Deafness and Mental Retardation
Charcot-Marie-Tooth Disease with Deafness and Mental Retardation
Namsd
Nadmr
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Charcot-Marie-Tooth Disease X-Linked Recessive 4, also known as x-linked charcot-marie-tooth disease type 4, is related to charcot-marie-tooth disease, x-linked recessive, 4, with or without cerebellar ataxia and mitochondrial encephalomyopathy. An important gene associated with Charcot-Marie-Tooth Disease X-Linked Recessive 4 is AIFM1 (Apoptosis Inducing Factor Mitochondria Associated 1), and among its related pathways/superpathways is Peroxisomal lipid metabolism. Affiliated tissues include skeletal muscle and brain, and related phenotypes are skeletal muscle atrophy and decreased nerve conduction velocity
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLD
Newborn
<1/1000000
24
102
6

Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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No data available

Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
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Publications
No data available

References Literature

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