Mitochondria Phenome Knowledgebase

Phenotypic Feature PET-findings finds 9 Gene-Feature associations that are associated with 8 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ABCD1 300100 Cerebrovascular-disorders PET findings; positron emission tomography; reductions of regional cerebral blood flow; cerebral blood flow abnormal neurologic 9702690
ATP7B 277900 Metabolic-brain-diseases PET findings; positron emission tomography; glucose metabolic rate reduced; hypometabolism; cerebellum abnormal; striatum abnormal; cerebral cortex abnormal; thalamus abnormal metabolic 9706533
HD 143100 Cerebrovascular-disorders PET findings; cerebral hypoperfusion; diminished subcortical perfusion; cortical blood flow decreased neurologic 1532132
HD 143100 Metabolic-brain-diseases PET findings; positron emission tomography; glucose metabolic rate reduced; glucose hypometabolism; basal ganglia metabolism abnormal; nucleus caudatus metabolism abnormal; CSF corticotropin releasing factor elevated; CRF elevated; MRS findings; myoinositol elevated; creatine levels abnormal; phosphocreatine levels abnormal; N acetylaspartate peak abnormal metabolic 2456053 2940474 2945510 6217782 9443350 15042332 15526960
LRRK2 607060 Metabolic-brain-diseases PET findings; positron emission tomography; nigrostriatal dysfunction; presynaptic dopamine synthesis abnormal; putamen uptake reductions; caudate uptake reductions metabolic 7898705 15732106 15732108
PARK7 606324 Metabolic-brain-diseases PET findings; positron emission tomography; putamen uptake reductions; caudate uptake reductions; glucose hypometabolism metabolic 15365989 15565491
PINK1 605909 Metabolic-brain-diseases PET findings; positron emission tomography; putamen uptake reductions; bilaterally; SPECT findings; presynaptic abnormalities; postsynaptic abnormalities; dopaminergic denervation metabolic 15955954 16547921
SPAST 182601 Intracranial-hemorrhages cerebral hemorrhage; PET findings; positron emission tomography; cerebral blood flow decreased; cerebellum affected; cerebellum hemispheres affected neurologic 11015453 11266693 15667412
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

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