Mitochondria Phenome Knowledgebase

Gene Symbol GCDH
Ensembl ID ENSG00000105607 Entrez 2639
Gene Alias ACAD5; GCD Subcellular Locations Mitochondria Mitochondrial-matrix
Map Position 19p13.2 Subcell PMIDs 8541831
OMIM Gene 608801 Protein Complex
Swissprot ID Q92947 Swissprot Description "Glutaryl-CoA dehydrogenase, mitochondrial precursor"
OMIM Disease Glutaric acidemia type I (GA I) [231670]

107 Gene-Feature associations for Gene GCDH

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
GCDH 231670 Acid-base-imbalance metabolic #7564239 #9856558 #11825066 #12473778 #12888985
GCDH 231670 Acidosis metabolic acidosis; lactate acidosis; systemic acidosis metabolic 7564239 9856558 11825066 12473778 12888985
GCDH 231670 Acylcarnitine-profile-abnormal elevated C5 dicarboxylic acylcarnitine; glutarylcarnitine elevated metabolic 10407775 11174631 16377226
GCDH 231670 Aggression aggressive behavior psychiatric 15985591
GCDH 231670 Aminoaciduria generalized; rare finding metabolic 16377226
GCDH 231670 Ataxia transient; truncal ataxia; gait ataxia neurologic 15985591 16377226
GCDH 231670 Athetosis athetoid posturing; choreoathetosis neurologic 1137568 7795610 9850748 9856558 10407775 11825066 12888985 16377226
GCDH 231670 Basal-ganglia-diseases basal ganglia atrophy; basal ganglia degeneration; basal ganglia pathology neurologic 7564239 7795610 10699052 11058907 12888985
GCDH 231670 Behavioral-symptoms psychiatric #15985591
GCDH 231670 Body-temperature-changes miscellaneous #7564239 #9856558 #10407775 #11825066 #12888985 #15985591 #16377226
GCDH 231670 Bone-diseases musculoskeletal #12888985
GCDH 231670 Brain-diseases neurologic #1137568 #7564239 #7795610 #9850748 #9856558 #10407775 #10699052 #10960496 #11058907 #11174631 #11825066 #12473778 #12888985 #15985591 #16377226
GCDH 231670 Brain-edema biopsy findings; edematic swelling neurologic 15985591
GCDH 231670 Cardiomyopathy cardiovascular 12888985
GCDH 231670 Cardiorespiratory-arrest high morbidity; high mortality cardiovascular 7795610 11174631 11825066
GCDH 231670 Cardiovascular-diseases cardiovascular #7795610 #11174631 #11825066 #12888985
GCDH 231670 Carnitine-levels-abnormal secondary carnitine depletion; decreased total carnitine; decreased free carnitine; elevated esterified carnitine; elevated glutarylcarnitine; MRS findings; magnetic resonance spectroscopy; muscle carnitine levels abnormal metabolic 10699052 11174631 12473778 12888985 15985591 16377226
GCDH 231670 Carnitine-responsive late onset forms miscellaneous 12473778 15985591
GCDH 231670 Central-nervous-system-diseases neurologic #1137568 #7564239 #7795610 #9850748 #9856558 #10407775 #10699052 #10960496 #11058907 #11174631 #11825066 #12473778 #12888985 #15985591 #16377226
GCDH 231670 Cerebral-atrophy frontotemporal atrophy; widening of cortical sulci; temporal lobe atrophy; dilation of lateral ventricles; generalized atrophy; neocortical hypoplasia neurologic 7564239 7795610 9856558 10407775 11174631 11825066 12888985 15985591
GCDH 231670 Cerebral-necrosis nucleus caudatus necrosis; putamen necrosis; striatum necrosis; striatal destruction; acute; stroke like; basal ganglia necrosis neurologic 1137568 7795610 10699052 11174631 12888985
GCDH 231670 Cerebrovascular-disorders neurologic #7564239 #10407775 #12888985 #16377226
GCDH 231670 Choreatic-disorders choreoathetosis; choreatic movements neurologic 7795610 9850748 9856558 10407775 11825066 12888985 16377226
GCDH 231670 Confusion disorientation in time; disorientation neurologic 15985591
GCDH 231670 Consciousness-disorders comatose state; coma; responsiveness impaired; obtundation neurologic 10960496 11174631 11825066 12888985 16377226
GCDH 231670 Corpus-callosum-hypoplasia thinning; late onset form neurologic 12888985 15985591
GCDH 231670 Craniofacial-abnormalities musculoskeletal #7564239 #9850748 #10407775 #10699052 #10960496 #11058907 #11174631 #11825066 #12888985 #15985591 #16377226
GCDH 231670 Deglutition-disorders swallowing impaired gastrointestinal 12888985
GCDH 231670 Dehydration metabolic 11825066 12888985
GCDH 231670 Dementia progressive psychiatric 15985591
GCDH 231670 Developmental-delay neurodevelopment delayed; psychomotor retardation; psychomotor delay neurologic 7564239 7795610 10407775 10960496 11174631 11825066 15985591 16377226
GCDH 231670 Diarrhea gastrointestinal 11825066 16377226
GCDH 231670 Digestive-system-diseases gastrointestinal #7564239 #10960496 #11825066 #12888985 #16377226
GCDH 231670 Dysarthria neurologic 12888985 16377226
GCDH 231670 Dyskinesias dystonic dyskinetic; oromandibular dyskinesia; grimacing; orofacial dyskinesia neurologic 7564239 9850748 10699052 11174631 11825066 12888985 15985591
GCDH 231670 Dystonic-disorders dystonic dyskinetic; dystonic cerebral palsy; dystonic posturing; crippling dystonia; dystonic postures neurologic 1137568 7564239 7795610 9850748 9856558 10699052 10960496 11058907 11174631 11825066 12888985
GCDH 231670 Electroencephalogram-abnormal paroxysmal dysrhythmia; dysrhythmia; EEG abnormal neurologic 12473778
GCDH 231670 Encephalopathy infantile; encephalopathic crisis; encephalitis like; acute encephalopathy neurologic 7564239 9850748 9856558 10407775 10699052 10960496 11174631 11825066
GCDH 231670 Exercise-intolerance fatigue miscellaneous 12888985
GCDH 231670 Extrapyramidal-tract-signs extrapyramidal cerebral palsy; extrapyramidal syndrome neurologic 7795610 11058907 11825066
GCDH 231670 Eye-diseases ophthalmologic #10407775 #11020111 #12473778 #12888985 #15985591
GCDH 231670 Fever febrile illness; febrile episodes; hyperthermia; hyperpyrexia; fever triggered episodes miscellaneous 7564239 9856558 10407775 11825066 12888985 15985591 16377226
GCDH 231670 Gait-disorders gait disturbances; frequent falling; inability walking neurologic 10960496 12888985 15985591
GCDH 231670 Gastroenteritis gastrointestinal infection gastrointestinal 7564239 11825066
GCDH 231670 Gastrointestinal-diseases gastrointestinal #7564239 #11825066 #12888985
GCDH 231670 Glucose-metabolism-disorders metabolic #7564239 #11825066 #12888985 #16377226
GCDH 231670 Glutaric-aciduria glutaric acidemia metabolic 1137568 7795610 9856558 10407775 10699052 10960496 11020111 11058907 11174631 11825066 12473778 12888985 15985591 16377226
GCDH 231670 Hallucinations visual hallucinations; acoustic hallucinations neurologic 15985591
GCDH 231670 Headache-disorders recurrent; unspecific; intermittend; severe; late onset form neurologic 12473778 15985591
GCDH 231670 Heart-diseases cardiovascular #12888985
GCDH 231670 Hydrocephalus neurologic 12888985
GCDH 231670 Hyperhidrosis profuse sweating dermatologic 7564239
GCDH 231670 Hyperreflexia exaggerated; tendon stretch reflexes abnormal; hyperactive reflexes neurologic 11174631 12473778
GCDH 231670 Hypoglycemia fasting hypoglycemia; nonketotic hypoglycemia metabolic 7564239 11825066 12888985 16377226
GCDH 231670 Immune-system-diseases immunologic #7795610 #9856558 #10407775 #10960496 #11174631 #11825066 #12888985 #15985591
GCDH 231670 Infections respiratory tract infections; bronchitis; otitis media; cellulitis; intercurrent; infection triggered onset immunologic 7795610 9856558 10407775 10960496 11174631 11825066 12888985 15985591
GCDH 231670 Intracranial-hemorrhages neurologic #7564239 #10407775 #12888985 #16377226
GCDH 231670 Irritability recurrent neurologic 10407775 11825066 16377226
GCDH 231670 Joint-diseases dislocated joints; dystonia related musculoskeletal 12888985
GCDH 231670 Lethargy lethargic; drowsiness neurologic 9856558 10960496 11825066
GCDH 231670 Leukoencephalopathy MRI findings; signal intensity abnormalities; bilateral symmetric; myelinopathy; spongy myelinopathy; myelination impaired; white matter abnormal; supratentorial white matter abnormal; leukodystrophy neurologic 7795610 11825066 12473778 12888985 15985591
GCDH 231670 Lung-diseases respiratory #11825066 #12888985
GCDH 231670 Macrocephaly microencephalic macrocephaly; microencephalic; progressive musculoskeletal 7564239 9850748 10407775 10699052 10960496 11058907 11174631 11825066 12888985 15985591 16377226
GCDH 231670 Memory-disorders memory impairment neurologic 12473778
GCDH 231670 Mental-disorders psychiatric #15985591
GCDH 231670 Mental-retardation neurologic 7564239 7795610
GCDH 231670 Metabolic-brain-diseases MRS findings; magnetic resonance spectroscopy; choline N acetylaspartate ratios elevated; frontal more than occipital; lactate levels elevated in affected white matter metabolic #12888985 15985591
GCDH 231670 Metabolic-diseases metabolic #1137568 #7564239 #7795610 #9856558 #10407775 #10699052 #10960496 #11020111 #11058907 #11174631 #11825066 #12473778 #12888985 #15985591 #16377226
GCDH 231670 Movement-disorders progressive; involuntary movements neurologic 1137568 #7564239 #7795610 #9850748 9856558 10407775 #10699052 #10960496 #11058907 11174631 #11825066 12888985 #15985591 16377226
GCDH 231670 Muscle-hypotonia axial hypotonia; head control loss neurologic 7564239 10407775 10960496 11174631 11825066 12888985 16377226
GCDH 231670 Muscle-rigidity generalized rigidity; diffuse neurologic 10407775 11825066 12888985
GCDH 231670 Muscle-spasticity signs of spasticity; spasticity; cerebral palsy like neurologic 7564239 9856558 10407775 16377226
GCDH 231670 Muscular-diseases myopathy musculoskeletal 12888985
GCDH 231670 Musculoskeletal-diseases long bone deformity; contractures; dystonia related musculoskeletal #7564239 #9850748 #10407775 #10699052 #10960496 #11058907 #11174631 #11825066 12888985 #15985591 #16377226
GCDH 231670 Myoclonus ankle clonus; clonus neurologic 11174631 11825066
GCDH 231670 Nervous-system-diseases neurologic #1137568 #7564239 #7795610 #9850748 #9856558 #10407775 #10699052 #10960496 #11058907 #11174631 #11825066 #12473778 #12888985 #15985591 #16377226
GCDH 231670 Neurobehavioral-manifestations neurologic #7564239 #7795610 #9856558 #10407775 #10960496 #11174631 #11825066 #12473778 #12888985 #15985591 #16377226
GCDH 231670 Neurodegenerative-diseases neurodegenerative disorder neurologic 1137568 11174631
GCDH 231670 Neurologic-manifestations neurologic #7564239 #7795610 #9856558 #10407775 #10960496 #11174631 #11825066 #12473778 #12888985 #15985591 #16377226
GCDH 231670 Neuromuscular-manifestations neurologic #7564239 #9856558 #10407775 #10960496 #11174631 #11825066 #12888985 #16377226
GCDH 231670 Neuronal-loss-and-lesions MRI findings; signal intensity abnormalities; nucleus caudatus abnormal; lenticular nuclei abnormal; basal ganglia abnormal; striatum abnormal; sylvian fissures widening; white matter abnormal; putamen abnormal; globus pallidus abnormal; substantia nigra abnormal; tegmentum abnormal; superior colliculus abnormal neurologic 1137568 7795610 10407775 10699052 10960496 11058907 12473778 15985591
GCDH 231670 Ocular-motility-disorders upward gaze palsy; convergence paralysis; eye movements abnormal; gaze palsy ophthalmologic 11020111 12473778 15985591
GCDH 231670 Organic-acids-abnormal glutaric aciduria; 3 hydroxyglutaric aciduria; glutaconic aciduria; elevated glutarylcarnitine metabolic 1137568 7795610 9856558 10407775 10699052 10960496 #11020111 11058907 11174631 11825066 #12473778 12888985 15985591 16377226
GCDH 231670 Paralysis-Paresis tetraplegia neurologic 7564239
GCDH 231670 Pathologic-nystagmus horizontal nystagmus; minor nystagmus; late onset ophthalmologic 12473778
GCDH 231670 Perceptual-disorders neurologic #15985591
GCDH 231670 Pneumonia chronic aspiration pneumonia; acute aspiration pneumonitis respiratory 11825066 12888985
GCDH 231670 Postural-instability neurologic 12888985
GCDH 231670 Psychiatric-disorders psychiatric #15985591
GCDH 231670 Reflexes-abnormal neurologic #11174631 #12473778
GCDH 231670 Respiration-disorders respiratory illness; respiratory complications of dystonia; chest wall dystonia embarrassing respiratory mechanics; respiratory stridor respiratory 11825066 12888985
GCDH 231670 Respiratory-tract-diseases respiratory #11825066 #12888985
GCDH 231670 Retinal-diseases retinal hemorrhages; intraretinal hemorrhages; pigmentary retinopathy ophthalmologic 10407775 11020111 12888985
GCDH 231670 Reye-like-symptoms reye syndrome like; reye like hepatocerebral crisis metabolic 12888985
GCDH 231670 Seizures opisthotonos; opisthotonic posturing; convulsions; tonic clonic seizures; focal seizures neurologic 1137568 7795610 9850748 9856558 10960496 11825066 12888985 15985591 16377226
GCDH 231670 Skin-diseases dermatologic #7564239
GCDH 231670 Speech-disorders speech problems; speech impaired; expressive language impaired; inability to speak neurologic 10960496 12888985 15985591 #16377226
GCDH 231670 Spinal-diseases scoliosis; dystonia related musculoskeletal 12888985
GCDH 231670 Strabismus ophthalmologic 11020111
GCDH 231670 Stroke-like-episodes striatal injury; stroke like tissue degeneration; stroke like; apoplex; paralysis; metabolic stroke; acute onset neurologic 12888985
GCDH 231670 Subdural-hematoma subdural haematomas; subdural effusions; subdural bleeding; minor head trauma related; cerebral infarction; subdural hydromas; subdural bleed; massive subdural hemorrhages neurologic 7564239 10407775 12888985 16377226
GCDH 231670 Sweat-gland-diseases dermatologic #7564239
GCDH 231670 Tremor hand tremor; arm tremor; bilateral neurologic 9850748 15985591
GCDH 231670 Vertigo progressive vertigo neurologic 15985591
GCDH 231670 Vitamin-responsive riboflavin; vitamin B2; response variable miscellaneous 11058907 16377226
GCDH 231670 Vomiting gastroesophageal reflux gastrointestinal 10960496 12888985 16377226
GCDH 231670 Water-electrolyte-imbalance metabolic #11825066 #12888985

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