Details of DCTN1 gene in Homo sapiens
Disease |
Disease |
OMIM id |
Neuronopathy, distal hereditary motor, 7B (HMN7B) [MIM:607641]: A neuromuscular disorder. Distal hereditary motor neuronopathies constitute a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. Note=The disease is caused by mutations affecting the gene represented in this entry. |
607641 |
Amyotrophic lateral sclerosis (ALS) [MIM:105400]: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5- 10% of the cases. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. |
105400 |
Perry syndrome (PERRYS) [MIM:168605]: A neuropsychiatric disorder characterized by mental depression not responsive to antidepressant drugs or electroconvulsive therapy, sleep disturbances, exhaustion and marked weight loss. Parkinsonism develops later and respiratory failure occurred terminally. Note=The disease is caused by mutations affecting the gene represented in this entry. |
168605 |
Phenotypes
Abnormal appendicular skeleton morphology, Abnormal emotion/affect behavior, Abnormal facial expression, Abnormality of body weight, Abnormality of central motor function, Abnormality of extrapyramidal motor function, Abnormality of facial musculature, Abnormality of facial soft tissue, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of limb bone morphology, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of muscle morphology, Abnormality of muscle physiology, Abnormality of skeletal morphology, Abnormality of the central nervous system, Abnormality of the cranial nerves, Abnormality of the face, Abnormality of the glial cells, Abnormality of the hand, Abnormality of the head, Abnormality of the larynx, Abnormality of the lower motor neuron, Abnormality of the lung, Abnormality of the motor neurons, Abnormality of the musculature, Abnormality of the musculature of the hand, Abnormality of the musculature of the limbs, Abnormality of the musculature of the upper limbs, Abnormality of the nervous system, Abnormality of the peripheral nervous system, Abnormality of the respiratory system, Abnormality of the seventh cranial nerve, Abnormality of the skeletal system, Abnormality of the upper limb, Abnormality of the upper respiratory tract, Abnormality of the vocal cords, Abnormality of the voice, Adult onset, Age of onset, All, Amyotrophy, Apathy, Atrophy/Degeneration affecting the central nervous system, Autosomal dominant inheritance, Behavioural/Psychiatric Abnormality, Bradykinesia, Central hypoventilation, Cranial nerve paralysis, Decreased body weight, Decreased facial expression, Depression, Distal amyotrophy, Distal upper limb amyotrophy, Dysarthria, Dyspnea, Facial palsy, Functional respiratory abnormality, Gait disturbance, Gliosis, Growth abnormality, Hand muscle atrophy, Hoarse voice, Hypoventilation, Limb muscle weakness, Lower limb muscle weakness, Mask-like facies, Mode of inheritance, Morphological abnormality of the central nervous system, Muscle weakness, Neurological speech impairment, Neuronal loss in central nervous system, Onset, Onset and clinical course, Pace of progression, Parkinsonism, Phenotypic abnormality, Rapidly progressive, Respiratory difficulties, Respiratory insufficiency, Rigidity, Short stepped shuffling gait, Shuffling gait, Sleep disturbance, Slow progression, Tremor, Upper limb amyotrophy, Vocal cord paralysis, Vocal cord paresis, Weak voice, Weight loss.
Orthologs in other species |
M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
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