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Details of MED25 gene in Homo sapiens
Disease |
Disease |
OMIM id |
Charcot-Marie-Tooth disease 2B2 (CMT2B2) [MIM:605589]: A recessive axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal regeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. Note=The disease is caused by mutations affecting the gene represented in this entry. |
605589 |
Phenotypes
Abnormality of muscle morphology, Abnormality of the musculature, Abnormality of the nervous system, Abnormality of the peripheral nervous system, All, Amyotrophy, Areflexia, Autosomal recessive inheritance, Distal amyotrophy, Distal sensory impairment, Heterogeneous, Hyporeflexia, Mode of inheritance, Peripheral neuropathy, Phenotypic abnormality, Reduced tendon reflexes, Sensory impairment.
Orthologs in other species |
M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
Med25 | MED25 | --- | --- |