Mitochondria Phenome Knowledgebase

Gene Symbol TIMM8A
Ensembl ID ENSG00000126953 Entrez 1678
Gene Alias DDP; DDP1; DFN1; MGC12262; MTS Subcellular Locations Mitochondria Mitochondrial-intermembrane-space
Map Position Xq22.1 Subcell PMIDs 10051608 11956200
OMIM Gene 300356 Protein Complex Mitochondrial intermembrane space protein transporter complex
Swissprot ID O60220 Swissprot Description Mitochondrial import inner membrane translocase subunit TIM8 A
OMIM Disease Mohr Tranebjaerg syndrome (MTS) [304700]; Opticoacoustic nerve atrophy with dementia (Jensen syndrome) [311150]

Gene-Feature associations that are associated with 1 Gene

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
TIMM8A 304700 Musculoskeletal-diseases musculoskeletal #7643352 #10878669 #11449109 #11601506 #13771732
TIMM8A 304700 Bone-diseases musculoskeletal #7643352 #11449109 #11601506 #13771732
TIMM8A 304700 Spinal-diseases scoliosis musculoskeletal 11601506
TIMM8A 304700 Pathological-fractures femur fracture; scalp necrosis musculoskeletal 7643352 11449109 13771732
TIMM8A 304700 Muscular-diseases abnormal amounts of fatty vacuoles; myopathy musculoskeletal 10878669
TIMM8A 304700 Digestive-system-diseases gastrointestinal #8841189 #11449109 #11803487
TIMM8A 311150 Digestive-system-diseases gastrointestinal #11803487
TIMM8A 304700 Gastrointestinal-diseases gastrointestinal #8841189 #11449109
TIMM8A 311150 Gastrointestinal-diseases gastrointestinal #11803487
TIMM8A 304700 Deglutition-disorders dysphagia gastrointestinal 8841189 11449109
TIMM8A 311150 Deglutition-disorders gastrointestinal 11803487
TIMM8A 304700 Liver-diseases gastrointestinal #11803487
TIMM8A 304700 Fatty-liver steatosis gastrointestinal 11803487
TIMM8A 304700 Respiratory-tract-diseases respiratory #11449109
TIMM8A 304700 Lung-diseases respiratory #11449109
TIMM8A 304700 Pneumonia respiratory 11449109
TIMM8A 304700 Nervous-system-diseases neurologic #7643352 #8841189 #10878669 #11405816 #11449109 #11601506 #11803487 #12805099 #13771732 #15037720 #15710860 #16411215
TIMM8A 311150 Nervous-system-diseases neurologic #3425626 #7195649 #11803487
TIMM8A 304700 Central-nervous-system-diseases neurologic #7643352 #8841189 #10878669 #11405816 #11449109 #11601506 #11803487 #12805099 #15037720 #15710860 #16411215
TIMM8A 311150 Central-nervous-system-diseases neurologic #3425626 #7195649 #11803487
TIMM8A 304700 Brain-diseases neurologic #11405816 #11449109 #11803487 #12805099
TIMM8A 311150 Brain-diseases neurologic #3425626 #7195649 #11803487
TIMM8A 304700 Cerebral-gliosis astrogliosis; Pathology findings neurologic 11803487
TIMM8A 304700 Cerebral-atrophy cortical atrophy; parietal lobes atrophy; occipital and rostral parietal lobes abnormal neurologic 11405816 11449109 11803487 12805099
TIMM8A 311150 Cerebral-atrophy Pathology findings; nervous system atrophy; cortical atrophy neurologic 3425626 7195649 11803487
TIMM8A 311150 Cerebral-calcifications extensive calcifications; in all structures; meninges; vessels; neurons neurologic 3425626 7195649
TIMM8A 304700 Electroencephalogram-abnormal excess of theta waves; diffuse distribution neurologic 11405816
TIMM8A 304700 Movement-disorders difficulties with fine hand movements; writing difficulties; progressive; synkinesias; involuntary head and neck movements; involuntary movements neurologic #7643352 #8841189 10878669 #11405816 #11449109 11601506 12805099 15037720 #15710860 16411215
TIMM8A 304700 Dystonic-disorders dystonic posturing; involuntary movements; facial grimacing; blepharospasm; generalized; focal; torticollis; action dystonia; oromandibular dystonia; cervical dystonia neurologic 7643352 8841189 10878669 11405816 11449109 11601506 12805099 15037720 15710860 16411215
TIMM8A 304700 Dyskinesias tongue dyskinesia neurologic 16411215
TIMM8A 304700 Tremor dystonic tremor neurologic 8841189 15710860 16411215
TIMM8A 304700 Spinal-cord-diseases spinal cord atrophy; fiber loss; dorsal roots abnormal; posterior columns abnormal neurologic 11803487
TIMM8A 304700 Neuronal-loss-and-lesions MRI findings; multifocal patterns; striatum abnormal; cortex abnormal neurologic 11803487 12805099
TIMM8A 304700 Neurodegenerative-diseases progressive neurodegeneration neurologic 8841189 10878669 11449109 11803487 15710860
TIMM8A 304700 Axonal-degeneration nervous brachialis displayed axonal degeneration neurologic 11803487
TIMM8A 304700 Neurologic-manifestations neurologic #7643352 #8841189 #10878669 #11405816 #11449109 #11601506 #11803487 #12805099 #13771732 #15037720 #15710860 #16411215
TIMM8A 311150 Neurologic-manifestations neurologic #3425626 #7195649 #11803487
TIMM8A 304700 Ataxia heelŠkneeŠshin testing showed mild ataxia neurologic 12805099
TIMM8A 304700 Myoclonus hands; sternocleidomastoid; deltoid; pectoralis; lower extremities neurologic 11405816 12805099
TIMM8A 304700 Gait-disorders clumsiness; lack of arm swing; gait disturbance neurologic 10878669 11405816 16411215
TIMM8A 311150 Gait-disorders unable to walk; ataxic gait neurologic 3425626 7195649 11803487
TIMM8A 304700 Neurobehavioral-manifestations neurologic #8841189 #10878669 #12805099 #15710860 #16411215
TIMM8A 304700 Speech-disorders neurologic #8841189 #12805099 #15710860 #16411215
TIMM8A 304700 Dysarthria dysarthric speech; deafness related dysarthria; deafness and subsequent dysarthria neurologic 8841189 12805099 15710860 16411215
TIMM8A 304700 Apraxias dyspraxia neurologic 10878669
TIMM8A 304700 Psychomotor-agitation attention deficit; hyperactivity disorder; ADHD; learning disability neurologic 16411215
TIMM8A 304700 Irritability neurologic 15710860
TIMM8A 304700 Neuromuscular-manifestations neurologic #8841189 #10878669 #11803487 #12805099
TIMM8A 311150 Neuromuscular-manifestations neurologic #3425626 #7195649
TIMM8A 304700 Muscle-spasticity spasticity; spasticity without pareses; lower extremities neurologic 8841189 12805099
TIMM8A 304700 Muscular-atrophy neurogenic; neurogenic atrophy; subsarcolemmal aggregation of mitochondria; atrophy of hand muscles; abnormal amounts of fatty vacuoles neurologic 10878669 11803487 12805099
TIMM8A 311150 Muscular-atrophy moderate atrophy; diffuse; muscle wasting neurologic 3425626 7195649
TIMM8A 304700 Electromyography-abnormal myopathic pattern neurologic 10878669
TIMM8A 304700 Reflexes-abnormal neurologic #8841189 #10878669 #11405816 #12805099
TIMM8A 304700 Hyperreflexia clonus; brisk; deep tendon reflexes abnormal neurologic 8841189 10878669 11405816 12805099
TIMM8A 304700 Hearing-disorders deafness; postlingual; progressive; bilateral; sensorineural; auditory evoked potentials abnormal; brainstem auditory responses absent; loss of spiral ganglion cells; spiral ganglion cells atrophy; presbycusis neurologic 7643352 8841189 10878669 11405816 11449109 11601506 12805099 13771732 15037720 15710860 16411215
TIMM8A 311150 Hearing-disorders hearing loss; infantile; sensorineural neurologic 3425626 7195649 11803487
TIMM8A 304700 Peripheral-nervous-system-diseases neurologic #7643352 #11803487
TIMM8A 304700 Polyneuropathies peripheral neuropathy; mild neurologic 7643352 11803487
TIMM8A 304700 Eye-diseases ophthalmologic #7643352 #8841189 #10878669 #11449109 #11601506 #11803487 #12805099 #13771732 #15037720 #15710860
TIMM8A 311150 Eye-diseases ophthalmologic #3425626 #7195649 #11803487
TIMM8A 304700 Optic-nerve-diseases optic disc pallor; VEP latencies prolonged; optic nerve degeneration; optic nerve fiber loss; fibrosis ophthalmologic 10878669 11449109 11803487 12805099
TIMM8A 311150 Optic-nerve-diseases optic nerve atrophy; demyelinating; progressive; optic neuropathy ophthalmologic 3425626 7195649 11803487
TIMM8A 304700 Myopia ophthalmologic 13771732
TIMM8A 304700 Retinal-diseases retina atrophy; neuronal loss; fibrosis ophthalmologic 11803487
TIMM8A 304700 Uveal-diseases ophthalmologic #11803487
TIMM8A 304700 Choroid-diseases choroidal atrophic changes ophthalmologic 11803487
TIMM8A 304700 Vision-disorders visual field defect; visual acuity decreased; constricted field; visual evoked potentials abnormal; blindness; cortical blindness; visual loss; visual disability ophthalmologic 7643352 8841189 10878669 11449109 11601506 12805099 13771732 15037720 15710860
TIMM8A 311150 Vision-disorders visual acuity decreased; VEP latencies prolonged ophthalmologic 3425626 7195649 11803487
TIMM8A 311150 Color-vision-defects monochromatic vision; achromatopsia ophthalmologic 11803487
TIMM8A 304700 Photophobia ophthalmologic 13771732
TIMM8A 304700 Electroretinography-abnormal ERG abnormal; response amplitude decreased; oscillatory potentials; bilateral ophthalmologic 13771732 15037720
TIMM8A 304700 Metabolic-diseases metabolic #12805099
TIMM8A 311150 Metabolic-diseases metabolic #11803487
TIMM8A 304700 Metabolic-brain-diseases PET findings; positron emission tomography; basal ganglia hypometabolism; occipital lobes hypometabolism; visual cortex hypometabolism; rostral parietal lobes hypometabolism metabolic 12805099
TIMM8A 311150 Metabolic-brain-diseases PET findings; positron emission tomography; abnormally low uptake; parietal lobes abnormal; temporal lobes abnormal metabolic 11803487
TIMM8A 304700 Immune-system-diseases immunologic #15037720 #16411215
TIMM8A 304700 Infections recurrent; otitis media; mastoiditis immunologic 15037720 16411215
TIMM8A 304700 Psychiatric-disorders psychiatric problems; psychiatric manifestations psychiatric #7643352 8841189 #10878669 11405816 #11601506 #15037720 #15710860 #16411215
TIMM8A 311150 Psychiatric-disorders psychiatric #3425626 #7195649 #11803487
TIMM8A 304700 Behavioral-symptoms behavioral disturbances; abnormal behavior psychiatric 15710860 16411215
TIMM8A 304700 Mental-disorders psychiatric #7643352 #8841189 #10878669 #11405816 #11601506 #15037720 #15710860 #16411215
TIMM8A 311150 Mental-disorders psychiatric #3425626 #7195649 #11803487
TIMM8A 304700 Dementia mental deterioration; intellectual deficit; progressive psychiatric 7643352 8841189 10878669 11405816 11601506 15037720 16411215
TIMM8A 311150 Dementia severe; progressive psychiatric 3425626 7195649 11803487
TIMM8A 304700 Impulse-control-disorders compulsive behavior; impulse control disorder psychiatric 15710860
TIMM8A 304700 Mood-disorders unstable; uneven temperament; personality changes psychiatric 11405816
TIMM8A 304700 Schizophrenia-and-psychotic-disorders psychiatric #8841189 #10878669
TIMM8A 304700 Psychotic-disorders paranoia; psychotic disorder; paranoid psychotic features psychiatric 8841189 10878669
TIMM8A 304700 Mitochondria-abnormal Ragged red fibers; cristae abnormal miscellaneous 11803487

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