eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | agenesis of corpus callosum |
| Comorbidity | C0442874|neuropathy |
| Sentences | 8 |
| PubMedID- 25116249 | Hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum (hmsn/acc or accpn) is an autosomal recessive disease caused by the disruption of the slc12a6 gene, which encodes the k-cl cotransporter-3 (kcc3). |
| PubMedID- 22423107 | Loss of neuronal potassium/chloride cotransporter 3 (kcc3) is responsible for the degenerative phenotype in a conditional mouse model of hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum. |
| PubMedID- 24043619 | Inactivating mutations of the slc12a6 gene encoding kcc3 are the cause of a complex neurological disease known as agenesis of the corpus callosum with peripheral neuropathy, also referred as andermann syndrome (online mendelian inheritance in man (omim) 218000) (4–6). |
| PubMedID- 23724134 | Loss-of-function of the potassium-chloride cotransporter 3 (kcc3) causes hereditary motor and sensory neuropathy with agenesis of the corpus callosum (hmsn/acc), a severe neurodegenerative disease associated with defective midline crossing of commissural axons in the brain. |
| PubMedID- 20301546 | Hereditary motor and sensory neuropathy with agenesis of the corpus callosum (hmsn/acc), a neurodevelopmental and neurodegenerative disorder, is characterized by severe progressive sensorimotor neuropathy with resulting hypotonia, areflexia, and amyotrophy and variable degrees of dysgenesis of the corpus callosum. |
| PubMedID- 21628467 | Missense and protein-truncating mutations of the human potassium-chloride co-transporter 3 gene (kcc3) cause hereditary motor and sensory neuropathy with agenesis of the corpus callosum (hmsn/acc), which is a severe neurodegenerative disease characterized by axonal dysfunction and neurodevelopmental defects. |
| PubMedID- 21147077 | Potassium/chloride cotransporter 3 (kcc3) mutations are responsible for hereditary motor and sensory neuropathy with agenesis of the corpus callosum (hmsn/acc), which is a severe sensory and motor neuropathy. |
| PubMedID- 22937264 | In kcc3 knockout mice, an animal model of agenesis of the corpus callosum associated with peripheral neuropathy, some fibers accumulate fluid periaxonally. |
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