| PDHA1 |
312170 |
Musculoskeletal-diseases |
|
musculoskeletal |
#9187674 #9686362 #10486093 #15384102 #16412675 |
| PDHA1 |
312170 |
Bone-diseases |
|
musculoskeletal |
#15384102 |
| PDHA1 |
312170 |
Metabolic-bone-diseases |
osteopenia
|
musculoskeletal |
15384102 |
| PDHA1 |
312170 |
Craniofacial-abnormalities |
|
musculoskeletal |
#9187674 #9686362 #10486093 #15384102 #16412675 |
| PDHA1 |
312170 |
Microcephaly |
|
musculoskeletal |
9187674 9686362 10486093 15384102 16412675 |
| PDHA1 |
308930 |
Digestive-system-diseases |
|
gastrointestinal |
#8982956 |
| PDHA1 |
312170 |
Digestive-system-diseases |
|
gastrointestinal |
#1338114 #9686362 #10486093 #14635113 #15558317 #16552546 |
| PDHA1 |
312170 |
Gastrointestinal-diseases |
|
gastrointestinal |
#9686362 #10486093 #15558317 #16552546 |
| PDHA1 |
312170 |
Deglutition-disorders |
lost the ability to swallow; swallowing disturbance
|
gastrointestinal |
9686362 15558317 |
| PDHA1 |
312170 |
Gastroenteritis |
|
gastrointestinal |
16552546 |
| PDHA1 |
312170 |
Intestinal-obstruction |
intestinal obstruction; volvolus; constipation
|
gastrointestinal |
10486093 |
| PDHA1 |
308930 |
Liver-diseases |
|
gastrointestinal |
#8982956 |
| PDHA1 |
308930 |
Hepatomegaly |
slight hepatomegaly
|
gastrointestinal |
8982956 |
| PDHA1 |
312170 |
Feeding-difficulties |
poor feeding
|
gastrointestinal |
1338114 10486093 14635113 |
| PDHA1 |
308930 |
Diarrhea |
|
gastrointestinal |
8982956 |
| PDHA1 |
308930 |
Respiratory-tract-diseases |
|
respiratory |
#8498846 #8982956 #9187674 |
| PDHA1 |
312170 |
Respiratory-tract-diseases |
|
respiratory |
#9686362 #12163191 #16552546 |
| PDHA1 |
312170 |
Lung-diseases |
|
respiratory |
#12163191 |
| PDHA1 |
312170 |
Pneumonia |
|
respiratory |
12163191 |
| PDHA1 |
308930 |
Respiration-disorders |
|
respiratory |
#8498846 #8982956 #9187674 |
| PDHA1 |
312170 |
Respiration-disorders |
|
respiratory |
#9686362 #16552546 |
| PDHA1 |
312170 |
Hyperventilation |
tachypnea
|
respiratory |
9686362 16552546 |
| PDHA1 |
308930 |
Respiratory-insufficiency |
hypoventilation; apneic; respiratory patterns abnormal; dyspnea; respiratory distress; respiratory failure
|
respiratory |
8498846 8982956 9187674 |
| PDHA1 |
308930 |
Nervous-system-diseases |
|
neurologic |
#1641082 #7898978 #8498846 #8982956 #9187674 #9266390 |
| PDHA1 |
312170 |
Nervous-system-diseases |
|
neurologic |
#1338114 #3137520 #8504306 #8504309 #9187674 #9686362 #10486093 #10679936 #11870584 #12163191 #12379317 #14635113 #15384102 #15473177 #15558317 #16256390 #16412675 #16552546 |
| PDHA1 |
308930 |
Central-nervous-system-diseases |
|
neurologic |
#1641082 #7898978 #8498846 #8982956 #9187674 #9266390 |
| PDHA1 |
312170 |
Central-nervous-system-diseases |
|
neurologic |
#1338114 #3137520 #8504306 #8504309 #9187674 #9686362 #10486093 #10679936 #11870584 #12163191 #12379317 #14635113 #15384102 #15473177 #15558317 #16256390 #16412675 #16552546 |
| PDHA1 |
308930 |
Brain-diseases |
|
neurologic |
#1641082 #7898978 #8498846 #8982956 #9187674 |
| PDHA1 |
312170 |
Brain-diseases |
|
neurologic |
#1338114 #3137520 #8504306 #8504309 #9187674 #9686362 #10486093 #10679936 #11870584 #12163191 #12379317 #14635113 #15384102 #15558317 #16256390 #16412675 |
| PDHA1 |
312170 |
Basal-ganglia-diseases |
MRI findings; bilateral symmetric; basal ganglia abnormal; Leigh like
|
neurologic |
12163191 12379317 |
| PDHA1 |
308930 |
Encephalopathy |
subacute necrotizing; lesions; demyelination; necrosis; necrosis; spongiosis; capillary proliferation; Leigh like; encephalomyelopathy
|
neurologic |
1641082 7898978 8498846 9187674 |
| PDHA1 |
312170 |
Encephalopathy |
encephalomyelopathy; Leigh like; encephalopathic features
|
neurologic |
9686362 10679936 15558317 |
| PDHA1 |
312170 |
Cerebrovascular-disorders |
|
neurologic |
#3137520 |
| PDHA1 |
312170 |
Intracranial-hemorrhages |
multiple hemorrhages; diffuse hemorrhages; acute hemorrhages
|
neurologic |
3137520 |
| PDHA1 |
308930 |
Seizures |
myoclonic seizures
|
neurologic |
8982956 |
| PDHA1 |
312170 |
Seizures |
spasms; infantile spasms; west syndrome; epilepsy; spells; eye rolling
|
neurologic |
1338114 10486093 11870584 15384102 16412675 |
| PDHA1 |
312170 |
Hydrocephalus |
prenatal; third ventricle enlarged
|
neurologic |
15384102 |
| PDHA1 |
312170 |
Leukoencephalopathy |
loss of white matter
|
neurologic |
10486093 |
| PDHA1 |
312170 |
Cerebellar-atrophy |
MRI findings; cerebellar defect; cerebellar dentate nuclei abnormal; loss of dentate nucleus; cerebellar atrophy
|
neurologic |
10486093 15384102 |
| PDHA1 |
312170 |
Cerebral-atrophy |
MRI findings; CT findings; cortical atrophy; dilated ventricles; subcortical atrophy
|
neurologic |
9686362 10486093 10679936 15384102 16256390 |
| PDHA1 |
312170 |
Corpus-callosum-hypoplasia |
corpus callosum hypoplasia; agenesis corpus callosum
|
neurologic |
8504306 8504309 9187674 9686362 10486093 15384102 16256390 |
| PDHA1 |
312170 |
Cortical-dysplasia |
grey matter heterotopia; white matter heterotopia
|
neurologic |
8504309 |
| PDHA1 |
312170 |
Electroencephalogram-abnormal |
slowing; epileptic discharges; hypsarrythmia; burst suppression pattern
|
neurologic |
10486093 11870584 14635113 |
| PDHA1 |
308930 |
Movement-disorders |
|
neurologic |
#9266390 |
| PDHA1 |
312170 |
Movement-disorders |
|
neurologic |
#10679936 #12163191 #15473177 #15558317 |
| PDHA1 |
312170 |
Dystonic-disorders |
dystonic gait disorder; dystonic
|
neurologic |
10679936 15473177 |
| PDHA1 |
308930 |
Tremor |
|
neurologic |
9266390 |
| PDHA1 |
312170 |
Tremor |
mild tremor; hand tremor
|
neurologic |
12163191 15558317 |
| PDHA1 |
308930 |
Spinal-cord-diseases |
subacute necrotizing; Leigh like; encephalomyelopathy
|
neurologic |
1641082 7898978 8498846 9187674 |
| PDHA1 |
312170 |
Spinal-cord-diseases |
encephalomyelopathy; myelopathy; Leigh like
|
neurologic |
9686362 10679936 |
| PDHA1 |
308930 |
Neuronal-loss-and-lesions |
MRI findings; bilateral symmetric; signal intensity abnormalities; basal ganglia abnormal; brainstem abnormal; cerebellum abnormal; thalamus abnormal; spinal cord abnormal; substantia nigra abnormal
|
neurologic |
1641082 8498846 8982956 9187674 |
| PDHA1 |
312170 |
Neuronal-loss-and-lesions |
MRI findings; bilateral symmetric; globus pallidus abnormal; demyelination; pons abnormal; basal ganglia abnormal; cerebellar dentate nuclei abnormal; ventricle enlargement; nucleus caudatus abnormal; thalamus abnormal; Leigh like
|
neurologic |
9686362 12163191 14635113 15384102 15473177 15558317 16256390 16552546 |
| PDHA1 |
308930 |
Neurologic-manifestations |
|
neurologic |
#1641082 #8498846 #8982956 #9187674 #9266390 |
| PDHA1 |
312170 |
Neurologic-manifestations |
|
neurologic |
#1338114 #8504306 #9187674 #9686362 #10486093 #10679936 #11870584 #12163191 #12379317 #14635113 #15384102 #15473177 #15558317 #16256390 #16412675 #16552546 |
| PDHA1 |
308930 |
Ataxia |
|
neurologic |
9187674 |
| PDHA1 |
312170 |
Ataxia |
episodic; ataxic gait
|
neurologic |
8504306 9686362 10679936 12163191 12379317 15384102 |
| PDHA1 |
308930 |
Myoclonus |
|
neurologic |
8982956 9266390 |
| PDHA1 |
308930 |
Gait-disorders |
walk incapacity
|
neurologic |
9187674 |
| PDHA1 |
312170 |
Gait-disorders |
unable to walk; unsteady gait; falling; dystonic gait disorder
|
neurologic |
12379317 15473177 16552546 |
| PDHA1 |
308930 |
Neurobehavioral-manifestations |
|
neurologic |
#8982956 #9187674 |
| PDHA1 |
312170 |
Neurobehavioral-manifestations |
|
neurologic |
#8504306 #9686362 #10486093 #11870584 #12163191 #14635113 #15384102 #15558317 #16412675 #16552546 |
| PDHA1 |
312170 |
Speech-disorders |
|
neurologic |
#15384102 |
| PDHA1 |
312170 |
Dysarthria |
|
neurologic |
15384102 |
| PDHA1 |
308930 |
Consciousness-disorders |
unresponsiveness; somnolence; consciousness altered
|
neurologic |
8982956 9187674 |
| PDHA1 |
312170 |
Mental-retardation |
severe; mild
|
neurologic |
8504306 9686362 10486093 11870584 |
| PDHA1 |
308930 |
Developmental-delay |
psychomotor retardation
|
neurologic |
8498846 8982956 9266390 |
| PDHA1 |
312170 |
Developmental-delay |
psychomotor retardation; fine motor delay; learning delay
|
neurologic |
1338114 3137520 8504306 9187674 9686362 10486093 12163191 15384102 15473177 15558317 16256390 16412675 16552546 |
| PDHA1 |
312170 |
Psychomotor-agitation |
poor attention span; hyperactive behavior; hyperactivity
|
neurologic |
16412675 |
| PDHA1 |
308930 |
Irritability |
|
neurologic |
8982956 |
| PDHA1 |
312170 |
Irritability |
|
neurologic |
15558317 16552546 |
| PDHA1 |
308930 |
Lethargy |
|
neurologic |
8982956 |
| PDHA1 |
312170 |
Lethargy |
drowsiness; tiredness
|
neurologic |
12163191 14635113 15558317 16412675 |
| PDHA1 |
308930 |
Neuromuscular-manifestations |
|
neurologic |
#1641082 #8498846 #8982956 #9187674 #9266390 |
| PDHA1 |
312170 |
Neuromuscular-manifestations |
|
neurologic |
#1338114 #9187674 #9686362 #10486093 #12163191 #12379317 #14635113 #15473177 #15558317 #16256390 #16412675 #16552546 |
| PDHA1 |
308930 |
Muscle-spasticity |
spasticity; lower extremities
|
neurologic |
1641082 |
| PDHA1 |
312170 |
Muscle-spasticity |
spastic quadriplegia; lower extremities spasticity; spastic tetraparesis
|
neurologic |
9686362 10486093 16256390 16412675 |
| PDHA1 |
308930 |
Muscle-hypotonia |
|
neurologic |
1641082 8498846 8982956 9187674 9266390 |
| PDHA1 |
312170 |
Muscle-hypotonia |
head control loss; head lag; central hypotonia; floppy; generalized hypotonia; axial hypotonia
|
neurologic |
9686362 12163191 12379317 14635113 15558317 16256390 16412675 16552546 |
| PDHA1 |
308930 |
Muscle-weakness |
episodes; recurrent
|
neurologic |
9187674 |
| PDHA1 |
312170 |
Muscle-weakness |
severe weakness; episodes; recurrent; Guillain Barre syndrome like; lower extremities weakness; facial weakness
|
neurologic |
1338114 9187674 9686362 12163191 12379317 15558317 16552546 |
| PDHA1 |
312170 |
Muscular-atrophy |
morphological changes; type 2 fiber atrophy; amyotrophy
|
neurologic |
9187674 15558317 |
| PDHA1 |
308930 |
Electromyography-abnormal |
neuropathic findings; axonal neuropathy
|
neurologic |
9187674 |
| PDHA1 |
312170 |
Muscle-aching-and-stiffness |
muscle pain; fever related; pain and coldness
|
neurologic |
15473177 15558317 |
| PDHA1 |
312170 |
Paralysis-Paresis |
spastic quadriplegia; spastic tetraparesis; quadriparesis
|
neurologic |
9187674 9686362 10486093 16256390 |
| PDHA1 |
308930 |
Reflexes-abnormal |
|
neurologic |
#8982956 #9187674 |
| PDHA1 |
312170 |
Reflexes-abnormal |
|
neurologic |
#9187674 #9686362 #15473177 #15558317 #16256390 #16552546 |
| PDHA1 |
312170 |
Hyperreflexia |
brisk; deep tendon reflexes abnormal
|
neurologic |
15473177 16256390 |
| PDHA1 |
308930 |
Hyporeflexia |
areflexia; corneal reflexes diminished; pupil reflexes diminished
|
neurologic |
8982956 9187674 |
| PDHA1 |
312170 |
Hyporeflexia |
areflexia; deep tendon reflexes abnormal
|
neurologic |
9187674 9686362 15558317 16552546 |
| PDHA1 |
312170 |
Pyramidal-tract-signs |
|
neurologic |
16256390 |
| PDHA1 |
312170 |
Hearing-disorders |
deafness
|
neurologic |
15384102 |
| PDHA1 |
308930 |
Peripheral-nervous-system-diseases |
|
neurologic |
#9187674 |
| PDHA1 |
312170 |
Peripheral-nervous-system-diseases |
|
neurologic |
#9187674 #10679936 #12163191 #16552546 |
| PDHA1 |
308930 |
Polyneuropathies |
axonal neuropathy
|
neurologic |
9187674 |
| PDHA1 |
312170 |
Polyneuropathies |
axonal neuropathy; NCV abnormal; F wave latency prolonged; lower extremities pain; peripheral neuropathy
|
neurologic |
9187674 10679936 12163191 16552546 |
| PDHA1 |
308930 |
Eye-diseases |
|
ophthalmologic |
#1641082 |
| PDHA1 |
312170 |
Eye-diseases |
|
ophthalmologic |
#7573035 #8504306 #9686362 #15384102 #16256390 |
| PDHA1 |
312170 |
Blepharoptosis |
ptosis; episodes
|
ophthalmologic |
9686362 15384102 |
| PDHA1 |
308930 |
Ocular-motility-disorders |
horizontal gaze paralysis
|
ophthalmologic |
1641082 |
| PDHA1 |
312170 |
Ocular-motility-disorders |
paralysis; lateral gaze; gaze fixation abnormal
|
ophthalmologic |
7573035 9686362 #15384102 |
| PDHA1 |
312170 |
Pathologic-nystagmus |
|
ophthalmologic |
15384102 |
| PDHA1 |
312170 |
Strabismus |
squint; intermittent divergent squint
|
ophthalmologic |
7573035 |
| PDHA1 |
312170 |
Optic-nerve-diseases |
optic atrophy
|
ophthalmologic |
15384102 16256390 |
| PDHA1 |
312170 |
Vision-disorders |
blindness; poor visual contact; cortical blindness
|
ophthalmologic |
8504306 15384102 16256390 |
| PDHA1 |
312170 |
Electroretinography-abnormal |
electroretinogram was abnormal in macula
|
ophthalmologic |
16256390 |
| PDHA1 |
308930 |
Cardiovascular-diseases |
|
cardiovascular |
#9266390 |
| PDHA1 |
312170 |
Cardiovascular-diseases |
|
cardiovascular |
#14635113 |
| PDHA1 |
308930 |
Cardiorespiratory-arrest |
cardiac failure
|
cardiovascular |
9266390 |
| PDHA1 |
312170 |
Cardiorespiratory-arrest |
infant death
|
cardiovascular |
14635113 |
| PDHA1 |
308930 |
Metabolic-diseases |
|
metabolic |
#1641082 #8498846 #8982956 #9187674 #9266390 |
| PDHA1 |
312170 |
Metabolic-diseases |
|
metabolic |
#1338114 #3137520 #7573035 #8504306 #8504309 #9187674 #9686362 #10486093 #11870584 #12163191 #12379317 #14635113 #15384102 #15473177 #15558317 #16256390 #16412675 #16552546 |
| PDHA1 |
308930 |
Acid-base-imbalance |
|
metabolic |
#1641082 #8498846 #8982956 #9187674 #9266390 |
| PDHA1 |
312170 |
Acid-base-imbalance |
|
metabolic |
#1338114 #3137520 #7573035 #8504306 #8504309 #9187674 #9686362 #11870584 #12163191 #12379317 #14635113 #15384102 #15473177 #15558317 #16256390 #16412675 #16552546 |
| PDHA1 |
308930 |
Acidosis |
lactic acidosis; blood; CSF
|
metabolic |
1641082 8498846 8982956 9187674 9266390 |
| PDHA1 |
312170 |
Acidosis |
lactic acidosis; CSF; blood; lactic acidemia
|
metabolic |
1338114 3137520 7573035 8504306 8504309 9187674 9686362 11870584 12163191 12379317 14635113 15384102 15473177 15558317 16256390 16412675 16552546 |
| PDHA1 |
308930 |
Hyperammonemia |
ammonia levels elevated; slight
|
metabolic |
8982956 |
| PDHA1 |
308930 |
Aminoacid-levels-abnormal |
alanine elevated
|
metabolic |
8982956 |
| PDHA1 |
312170 |
Aminoacid-levels-abnormal |
elevated alanine
|
metabolic |
9686362 10486093 12379317 15473177 15558317 16256390 16412675 |
| PDHA1 |
312170 |
Aminoaciduria |
lactic aciduria; elevated alanine
|
metabolic |
9686362 10486093 |
| PDHA1 |
312170 |
Water-electrolyte-imbalance |
electrolytes abnormal
|
metabolic |
10486093 |
| PDHA1 |
312170 |
Hypocalcemia |
calcium levels abnormal; persistent; hypercalcuria
|
metabolic |
10486093 |
| PDHA1 |
308930 |
Acylcarnitine-profile-abnormal |
decreased free carnitine
|
metabolic |
8982956 |
| PDHA1 |
308930 |
Carnitine-levels-abnormal |
muscle carnitine content decreased
|
metabolic |
8982956 |
| PDHA1 |
312170 |
Organic-acids-abnormal |
|
metabolic |
#10486093 |
| PDHA1 |
312170 |
TCA-intermediates-elevated |
2 ketoglutaric acid elevated
|
metabolic |
10486093 |
| PDHA1 |
312170 |
Endocrine-system-diseases |
|
endocrinologic |
#10486093 |
| PDHA1 |
312170 |
Parathyroid-diseases |
|
endocrinologic |
#10486093 |
| PDHA1 |
312170 |
Hypoparathyroidism |
parathyroid hormone levels normal; high urinary loss of calcium
|
endocrinologic |
10486093 |
| PDHA1 |
308930 |
Immune-system-diseases |
|
immunologic |
#9266390 |
| PDHA1 |
312170 |
Immune-system-diseases |
|
immunologic |
#9187674 #12163191 #12379317 #15558317 #16552546 |
| PDHA1 |
308930 |
Infections |
respiratory tract infections
|
immunologic |
9266390 |
| PDHA1 |
312170 |
Infections |
exanthema subitum; upper respiratory tract; respiratory tract infections; otitis media; infectious episodes
|
immunologic |
9187674 12163191 12379317 15558317 16552546 |
| PDHA1 |
308930 |
Psychiatric-disorders |
|
psychiatric |
#8982956 |
| PDHA1 |
308930 |
Behavioral-symptoms |
|
psychiatric |
#8982956 |
| PDHA1 |
308930 |
Self-injurious-behavior |
autoagression
|
psychiatric |
8982956 |
| PDHA1 |
312170 |
Body-temperature-changes |
|
miscellaneous |
#12163191 #15558317 #16552546 |
| PDHA1 |
312170 |
Fever |
febrile illness
|
miscellaneous |
12163191 15558317 16552546 |
| PDHA1 |
308930 |
Exercise-intolerance |
malaises; malaise
|
miscellaneous |
7898978 |
| PDHA1 |
312170 |
Exercise-intolerance |
|
miscellaneous |
10679936 |
| PDHA1 |
308930 |
Growth-disorders |
|
miscellaneous |
#8982956 |
| PDHA1 |
312170 |
Growth-disorders |
|
miscellaneous |
#15384102 |
| PDHA1 |
312170 |
Failure-to-thrive |
|
miscellaneous |
15384102 |
| PDHA1 |
308930 |
Growth-deficiency |
severe growth delay
|
miscellaneous |
8982956 |
| PDHA1 |
308930 |
Dysmorphism-and-abnormalities |
small hooded penis; overlapping toes
|
miscellaneous |
8498846 |
| PDHA1 |
312170 |
Dysmorphism-and-abnormalities |
facial dysmorphism; hypertelorism; low set ears; long philtrum; micrognathia; retrognathia; unipalmar folds
|
miscellaneous |
9686362 |
| PDHA1 |
308930 |
PDH-deficiency |
liver; heart; fibroblasts; muscle
|
miscellaneous |
7898978 8498846 8982956 9187674 |
| PDHA1 |
312170 |
PDH-deficiency |
muscle; liver; heart; fibroblasts; lymphoblasts; thrombocytes
|
miscellaneous |
1338114 3137520 7573035 8504306 8504309 9187674 9686362 11870584 12163191 12379317 14635113 15384102 15473177 15558317 16412675 16552546 |
| PDHA1 |
308930 |
Vitamin-responsive |
thiamine; vitamin B1
|
miscellaneous |
9187674 9266390 |
| PDHA1 |
312170 |
Vitamin-responsive |
thiamine; vitamin B1
|
miscellaneous |
9187674 11870584 12163191 12379317 |
