CMTX4
MCID: CHR696
MIFTS: 32
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Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, with or Without Cerebellar Ataxia (CMTX4)
Categories:
Ear diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, with or...
MalaCards integrated aliases for Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, with or Without Cerebellar Ataxia:
Characteristics:Orphanet epidemiological data:58
x-linked charcot-marie-tooth disease type 4
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; OMIM:56
Miscellaneous:
slowly progressive variable age at onset (range infancy to young adult) hearing loss is often presenting feature highly variable features and severity
Inheritance:
x-linked recessive HPO:31
charcot-marie-tooth disease, x-linked recessive, 4, with or without cerebellar ataxia:
Inheritance x-linked recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Neuronal diseases Ear diseases Mental diseases
ICD10:
33
Orphanet: 58
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OMIM :
56
X-linked recessive Charcot-Marie-Tooth disease-4 with or without cerebellar ataxia (CMTX4) is a mitochondrial disorder manifest as progressive neurologic dysfunction with highly variable features. The age at onset ranges from infancy to young adulthood, and patients can present with different features, including hearing loss, delayed motor development, or difficulty walking due to peripheral neuropathy and/or cerebellar ataxia. Most patients develop all features, including a progressive sensorimotor axonal neuropathy and deafness due to auditory neuropathy. Additional more variable features can include cognitive impairment, cerebellar atrophy on brain imaging, cerebellar signs, such as dysarthria, abnormal extraocular movements, tremor, and dysmetria, as well as spasticity. There is significant intrafamilial variability: the variable features are consistent with mitochondrial dysfunction. Prolonged treatment with riboflavin may result in some mild improvement in the ataxia (summary by Rinaldi et al., 2012, Heimer et al., 2018, Bogdanova-Mihaylova et al., 2019). (310490)
MalaCards based summary : Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, with or Without Cerebellar Ataxia, also known as cowchock syndrome, is related to x-linked charcot-marie-tooth disease and charcot-marie-tooth disease x-linked recessive 4. An important gene associated with Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, with or Without Cerebellar Ataxia is AIFM1 (Apoptosis Inducing Factor Mitochondria Associated 1), and among its related pathways/superpathways are Apoptosis and Necroptosis. Affiliated tissues include brain and skeletal muscle, and related phenotypes are sensory neuropathy and skeletal muscle atrophy KEGG : 36 Cowchock syndrome (CMTX4) is a slowly progressive X-linked recessive disorder with axonal neuropathy, deafness, and cognitive impairment. This syndrome is associated with a mutation in AIFM1, the gene encoding apoptosis-inducing factor. UniProtKB/Swiss-Prot : 73 Charcot-Marie-Tooth disease, X-linked recessive, 4, with or without cerebellar ataxia: A neuromuscular disorder characterized by progressive sensorimotor axonal neuropathy, distal sensory impairment, difficulty walking due to peripheral neuropathy and/or cerebellar ataxia, and deafness due to auditory neuropathy. Additional features include cognitive impairment, cerebellar atrophy, dysarthria, abnormal extraocular movements, tremor, dysmetria and spasticity. The age at onset ranges from infancy to young adulthood. Wikipedia : 74 Charcot-Marie-Tooth disease (CMT) is a hereditary motor and sensory neuropathies of the peripheral... more... |
Diseases related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, with or Without Cerebellar Ataxia via text searches within MalaCards or GeneCards Suite gene sharing:(showing 11, show less)
Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, with or Without Cerebellar Ataxia:![]() |
Human phenotypes related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, with or Without Cerebellar Ataxia:58 31 (showing 23, show less)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:310490 |
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MalaCards organs/tissues related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, with or Without Cerebellar Ataxia:40
Brain,
Skeletal Muscle
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Articles related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, with or Without Cerebellar Ataxia:(showing 10, show less)
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ClinVar genetic disease variations for Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, with or Without Cerebellar Ataxia:6 (showing 6, show less)
UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, with or Without Cerebellar Ataxia:73 (showing 1, show less)
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Search
GEO
for disease gene expression data for Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, with or Without Cerebellar Ataxia.
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Pathways related to Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, with or Without Cerebellar Ataxia according to KEGG:36 (showing 2, show less)
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