| CYP27A1 |
213700 |
Musculoskeletal-diseases |
|
musculoskeletal |
#1763899 #3344851 #5676919 #7315872 #8514861 #9186905 #10775536 #11903362 #12000359 #14572142 #15147532 #16278884 |
| CYP27A1 |
213700 |
Bone-diseases |
|
musculoskeletal |
#8514861 #12000359 #14572142 #16278884 |
| CYP27A1 |
213700 |
Metabolic-bone-diseases |
|
musculoskeletal |
#8514861 #12000359 #14572142 #16278884 |
| CYP27A1 |
213700 |
Osteoporosis |
premature
|
musculoskeletal |
8514861 12000359 14572142 16278884 |
| CYP27A1 |
213700 |
Pathological-fractures |
bone fractures
|
musculoskeletal |
8514861 14572142 |
| CYP27A1 |
213700 |
Foot-deformities |
pes cavus; ankle deformities
|
musculoskeletal |
3344851 7315872 8514861 9186905 15147532 |
| CYP27A1 |
213700 |
Muscular-diseases |
myopathic facial expression; EMG findings; myopathic; fiber size variability
|
musculoskeletal |
1763899 #5676919 8514861 #9186905 10775536 #11903362 14572142 #15147532 |
| CYP27A1 |
213700 |
Tendinopathy |
tendon swelling; bilateral tendon swelling; achilles tendons enlarged; tendon hypertrophy
|
musculoskeletal |
5676919 9186905 11903362 15147532 |
| CYP27A1 |
213700 |
Digestive-system-diseases |
|
gastrointestinal |
#7915755 #10430841 #10775536 #11903362 #12555943 #14572142 #15795599 #16157755 #16278884 |
| CYP27A1 |
213700 |
Biliary-tract-diseases |
|
gastrointestinal |
#7915755 #12555943 #14572142 #15795599 |
| CYP27A1 |
213700 |
Cholestasis |
neonatal cholestatic jaundice; marked
|
gastrointestinal |
12555943 14572142 15795599 |
| CYP27A1 |
213700 |
Cholelithiasis |
gallstones; bile alcohol abnormal
|
gastrointestinal |
7915755 14572142 |
| CYP27A1 |
213700 |
Gastrointestinal-diseases |
|
gastrointestinal |
#11903362 #16157755 |
| CYP27A1 |
213700 |
Deglutition-disorders |
difficulty swallowing; dysphagia
|
gastrointestinal |
11903362 16157755 |
| CYP27A1 |
213700 |
Liver-diseases |
hepatocellular dysfunction; giant cell transformation; high number of nuclei per hepatocyte; bile duct proliferation; liver failure
|
gastrointestinal |
#12555943 #14572142 15795599 |
| CYP27A1 |
213700 |
Hepatitis |
hepatitis of infancy; giant cell hepatitis; nonspecific; focal bridging necrosis; inflammation; infiltrates; portal fibrosis; edema
|
gastrointestinal |
12555943 14572142 |
| CYP27A1 |
213700 |
Liver-enzymes-abnormal |
transaminases elevated; alkaline phosphatase elevated
|
gastrointestinal |
12555943 |
| CYP27A1 |
213700 |
Hepatomegaly |
|
gastrointestinal |
12555943 |
| CYP27A1 |
213700 |
Pancreatic-diseases |
|
gastrointestinal |
#7915755 |
| CYP27A1 |
213700 |
Pancreatitis |
gallstone and pancreatitis
|
gastrointestinal |
7915755 |
| CYP27A1 |
213700 |
Diarrhea |
childhood; intractable diarrhea; diarrhoea; intermittent
|
gastrointestinal |
10430841 10775536 14572142 16157755 16278884 |
| CYP27A1 |
213700 |
Respiratory-tract-diseases |
|
respiratory |
#12000359 #14572142 |
| CYP27A1 |
213700 |
Respiration-disorders |
|
respiratory |
#12000359 #14572142 |
| CYP27A1 |
213700 |
Respiratory-insufficiency |
coughing; sterol storage giant foamy cells; bronchoalveolar lavage fluids abnormal; lung biopsy abnormal
|
respiratory |
12000359 14572142 |
| CYP27A1 |
213700 |
Nervous-system-diseases |
|
neurologic |
#1763899 #2019602 #3344851 #5676919 #7315872 #7915755 #8514861 #9186905 #10430841 #10519880 #10775536 #11464194 #11903362 #12000359 #14572142 #15147532 #16157755 #16278884 |
| CYP27A1 |
213700 |
Central-nervous-system-diseases |
|
neurologic |
#3344851 #5676919 #7315872 #7915755 #8514861 #10430841 #10519880 #10775536 #12000359 #14572142 #15147532 #16157755 #16278884 |
| CYP27A1 |
213700 |
Brain-diseases |
|
neurologic |
#3344851 #7315872 #7915755 #8514861 #10430841 #10519880 #10775536 #12000359 #14572142 #15147532 #16157755 #16278884 |
| CYP27A1 |
213700 |
Cerebrovascular-disorders |
SPECT findings; cerebellar hypoperfusion
|
neurologic |
16278884 |
| CYP27A1 |
213700 |
Seizures |
epilepsy; convulsions; febrile convulsions; grand mal; tonic clonic seizures
|
neurologic |
7315872 7915755 8514861 10430841 10775536 15147532 16157755 16278884 |
| CYP27A1 |
213700 |
Leukoencephalopathy |
MRI findings; white matter abnormal; supratentorial white matter abnormal; periventricular white matter abnormal; cerebellar white matter abnormal; white matter lesions
|
neurologic |
3344851 10430841 10775536 14572142 16278884 |
| CYP27A1 |
213700 |
Cerebellar-atrophy |
neuroimaging findings; diffuse cerebellar atrophy
|
neurologic |
14572142 16157755 |
| CYP27A1 |
213700 |
Cerebral-atrophy |
MRI findings; brain atrophy; diffuse; cortical atrophy; ventricular enlargement; brain xanthomas; supratentorial atrophy; infratentotial atrophy; global atrophy
|
neurologic |
8514861 10519880 10775536 12000359 14572142 16157755 |
| CYP27A1 |
213700 |
Corpus-callosum-hypoplasia |
corpus callosum atrophy
|
neurologic |
14572142 |
| CYP27A1 |
213700 |
Electroencephalogram-abnormal |
disturbance of cerebral activity; abnormal generalized slow T activity; diffuse slowing; paroxysmal discharges; theta activity in the background rhythm
|
neurologic |
3344851 7315872 8514861 10775536 12000359 14572142 |
| CYP27A1 |
213700 |
Movement-disorders |
|
neurologic |
#12000359 #14572142 #16157755 |
| CYP27A1 |
213700 |
Parkinsonian-disorders |
parkinsonism
|
neurologic |
12000359 14572142 16157755 |
| CYP27A1 |
213700 |
Dyskinesias |
|
neurologic |
#16157755 |
| CYP27A1 |
213700 |
Bradykinesia |
generalized bradykinesia; facial bradykinesia
|
neurologic |
16157755 |
| CYP27A1 |
213700 |
Tremor |
progressive tremor; action tremor
|
neurologic |
16157755 |
| CYP27A1 |
213700 |
Spinal-cord-diseases |
demyelination; corticospinal tract; myelopathy; spinal cord syndrome; spinal xanthomatosis; spinal cord abnormal; gliosis
|
neurologic |
10430841 14572142 |
| CYP27A1 |
213700 |
Neuronal-loss-and-lesions |
MRI findings; signal intensity abnormalities; bilateral symmetric; supratentorial white matter abnormal; white matter abnormal; periventricular white matter abnormal; nucleus dentatus abnormal; parenchymal lesions; globus pallidus abnormal; cerebral peduncles abnormal; axonal loss; basal ganglia abnormal
|
neurologic |
5676919 10430841 10775536 14572142 16157755 16278884 |
| CYP27A1 |
213700 |
Neurodegenerative-diseases |
neurodegenerative disorder; neurodegenerative processes; neurodegenerative
|
neurologic |
14572142 16157755 |
| CYP27A1 |
213700 |
Neurologic-manifestations |
|
neurologic |
#1763899 #2019602 #3344851 #5676919 #7315872 #7915755 #8514861 #9186905 #10430841 #10519880 #10775536 #11464194 #11903362 #12000359 #14572142 #15147532 #16157755 #16278884 |
| CYP27A1 |
213700 |
Ataxia |
cerebellar ataxia; gait ataxia; progressive ataxia; dysmetria
|
neurologic |
2019602 3344851 5676919 10519880 16157755 |
| CYP27A1 |
213700 |
Gait-disorders |
gait disturbance; instability; incoordination; shuffling gait; unsteady gait
|
neurologic |
5676919 7915755 9186905 11464194 11903362 16157755 |
| CYP27A1 |
213700 |
Neurobehavioral-manifestations |
|
neurologic |
#3344851 #5676919 #7315872 #7915755 #9186905 #10430841 #10519880 #11464194 #11903362 #12000359 #14572142 #15147532 #16157755 #16278884 |
| CYP27A1 |
213700 |
Catatonia |
sudden onset of catatonia; catatonic episode
|
neurologic |
3344851 |
| CYP27A1 |
213700 |
Speech-disorders |
speech abnormalities; slurred speech
|
neurologic |
3344851 #10430841 #11903362 12000359 #16157755 |
| CYP27A1 |
213700 |
Dysarthria |
spastic dysarthria; ataxic dysarthria
|
neurologic |
10430841 11903362 16157755 |
| CYP27A1 |
213700 |
Memory-disorders |
memory abnormal; memory dysfunctions; short term memory impaired
|
neurologic |
3344851 16157755 16278884 |
| CYP27A1 |
213700 |
Mental-retardation |
mental deficiency
|
neurologic |
3344851 5676919 7315872 7915755 9186905 10519880 11464194 11903362 12000359 14572142 15147532 16278884 |
| CYP27A1 |
213700 |
Perceptual-disorders |
|
neurologic |
#3344851 #14572142 |
| CYP27A1 |
213700 |
Hallucinations |
delusions; hallucinations; auditory hallucinations; homosexual delusions
|
neurologic |
3344851 14572142 |
| CYP27A1 |
213700 |
Developmental-delay |
psychomotor retardation; motor abilities delayed
|
neurologic |
14572142 16157755 |
| CYP27A1 |
213700 |
Psychomotor-agitation |
agitation; poor attention; inattentive
|
neurologic |
3344851 14572142 |
| CYP27A1 |
213700 |
Irritability |
irritable
|
neurologic |
3344851 16278884 |
| CYP27A1 |
213700 |
Neuromuscular-manifestations |
|
neurologic |
#1763899 #3344851 #10775536 #11464194 #16157755 |
| CYP27A1 |
213700 |
Muscle-rigidity |
symmetric cogwheel rigidity; cogwheel rigidity; leadpipe rigidity
|
neurologic |
16157755 |
| CYP27A1 |
213700 |
Muscle-spasticity |
spinal cord paresis; progressive paraparesia; spastic paraparesis
|
neurologic |
3344851 11464194 16157755 |
| CYP27A1 |
213700 |
Electromyography-abnormal |
axonal neuropathy; demyelinating neuropathy
|
neurologic |
1763899 10775536 |
| CYP27A1 |
213700 |
Paralysis-Paresis |
spinal cord paresis; progressive paraparesia; spastic paraparesis; paraparesis
|
neurologic |
2019602 10430841 11464194 |
| CYP27A1 |
213700 |
Reflexes-abnormal |
|
neurologic |
#3344851 #7315872 #8514861 #9186905 #10430841 #10775536 #14572142 #16157755 #16278884 |
| CYP27A1 |
213700 |
Hyperreflexia |
brisk; deep tendon reflexes abnormal
|
neurologic |
9186905 16157755 16278884 |
| CYP27A1 |
213700 |
Pyramidal-tract-signs |
pyramidal paresis; cerebello pyramidal; pseudobulbar paralysis; bulbar palsy; dorsal column signs; extensor plantar response; babinski sign
|
neurologic |
3344851 7315872 8514861 10430841 10775536 14572142 16157755 16278884 |
| CYP27A1 |
213700 |
Peripheral-nervous-system-diseases |
|
neurologic |
#1763899 #3344851 #7315872 #8514861 #10430841 #10775536 #16157755 #16278884 |
| CYP27A1 |
213700 |
Polyneuropathies |
peripheral neuropathy; sensory loss; motor neuropathy; sensory neuropathy
|
neurologic |
1763899 3344851 7315872 8514861 10430841 10775536 16278884 |
| CYP27A1 |
213700 |
Proprioception-impaired |
vibratory sense diminished; lower extremities
|
neurologic |
16157755 |
| CYP27A1 |
213700 |
Eye-diseases |
|
ophthalmologic |
#3344851 #5676919 #7315872 #7915755 #8514861 #9186905 #10430841 #10775536 #11464194 #11903362 #14572142 #15147532 #16157755 #16278884 |
| CYP27A1 |
213700 |
Lens-diseases |
|
ophthalmologic |
#3344851 #5676919 #7315872 #7915755 #8514861 #9186905 #10430841 #10775536 #11464194 #11903362 #14572142 #15147532 #16157755 |
| CYP27A1 |
213700 |
Cataract |
juvenile cataract; bilateral; cataracts; congenital cataracts
|
ophthalmologic |
3344851 5676919 7315872 7915755 8514861 9186905 10430841 10775536 11464194 11903362 14572142 15147532 16157755 |
| CYP27A1 |
213700 |
Ocular-motility-disorders |
extraocular movements abnormal; saccadic intrusions; square wave jerks
|
ophthalmologic |
16157755 |
| CYP27A1 |
213700 |
Pathologic-nystagmus |
hypermetric saccades; nystagmus in all gaze directions
|
ophthalmologic |
16157755 |
| CYP27A1 |
213700 |
Optic-nerve-diseases |
visual evoked potential abnormal; bilateral; electric retrobulbar optic neuropathy; optic disk paleness
|
ophthalmologic |
14572142 16278884 |
| CYP27A1 |
213700 |
Retinal-diseases |
premature retinal aging; retinal vessel sclerosis; cholesterol like deposits
|
ophthalmologic |
14572142 |
| CYP27A1 |
213700 |
Vision-disorders |
visual impairment
|
ophthalmologic |
7915755 16157755 |
| CYP27A1 |
213700 |
Cardiovascular-diseases |
|
cardiovascular |
#5676919 #7915755 #8514861 #14572142 #15147532 #16278884 |
| CYP27A1 |
213700 |
Cardiorespiratory-arrest |
cardiac arrest; cardiac failure
|
cardiovascular |
15147532 |
| CYP27A1 |
213700 |
Vascular-diseases |
|
cardiovascular |
#5676919 #7915755 #8514861 #14572142 #15147532 #16278884 |
| CYP27A1 |
213700 |
Arteriosclerosis |
premature arteriosclerosis; early onset arteriosclerosis; atherosclerosis; atheromas
|
cardiovascular |
8514861 14572142 15147532 16278884 |
| CYP27A1 |
213700 |
Myocardial-ischemia |
myocardial infarction; ischaemic heart disease; coronary heart disease; heart attacks
|
cardiovascular |
5676919 #7915755 #14572142 15147532 |
| CYP27A1 |
213700 |
Coronary-disease |
obstruction; stenosis; coronary arteries; chest pain attacks; coronary artery disease
|
cardiovascular |
7915755 14572142 15147532 |
| CYP27A1 |
213700 |
Hematologic-diseases |
|
hematologic |
#15795599 |
| CYP27A1 |
213700 |
Blood-coagulation-disorders |
prothrombin time prolonged
|
hematologic |
15795599 |
| CYP27A1 |
213700 |
Skin-diseases |
|
dermatologic |
#1763899 #2019602 #3344851 #5676919 #7315872 #8514861 #10430841 #10519880 #10775536 #11464194 #12000359 #14572142 #15147532 #16157755 #16278884 |
| CYP27A1 |
213700 |
Xanthomatosis |
tendon xanthomas; bilateral; achilles tendons; extensor tendons; metacarpophalangeal tendons; rotular tendons; subcutaneous tumors; tuberous xanthoma; xanthelasma; xanthomata
|
dermatologic |
1763899 2019602 3344851 5676919 7315872 8514861 10430841 10519880 10775536 11464194 12000359 14572142 15147532 16157755 16278884 |
| CYP27A1 |
213700 |
Metabolic-diseases |
|
metabolic |
#1763899 #2019602 #3344851 #7915755 #8514861 #9186905 #10430841 #10519880 #10775536 #11903362 #12000359 #12555943 #14572142 #15147532 #15795599 #16157755 #16278884 |
| CYP27A1 |
213700 |
Dyslipidemias |
|
metabolic |
#1763899 #2019602 #3344851 #7915755 #8514861 #9186905 #10430841 #10519880 #10775536 #11903362 #12000359 #12555943 #14572142 #15147532 #15795599 #16157755 #16278884 |
| CYP27A1 |
213700 |
Hyperlipidemia |
|
metabolic |
#2019602 #8514861 #10775536 #12000359 #12555943 #15147532 #16278884 |
| CYP27A1 |
213700 |
Hypercholesterolemia |
plasma cholesterol normal; tissue cholesterol abnormal; hypercholesterolemia; urinary bile alcohol excretion
|
metabolic |
2019602 8514861 10775536 12000359 12555943 15147532 16278884 |
| CYP27A1 |
213700 |
Hypertriglyceridemia |
triglycerides elevated; dyslipaemia
|
metabolic |
15147532 |
| CYP27A1 |
213700 |
Hypercholestanolemia |
hypercholestanolaemia; cholestanol levels elevated; plasma; cerebrotendinous cholestanolosis; cholestanetetrols; cholestanepentols
|
metabolic |
1763899 2019602 3344851 7915755 8514861 9186905 10430841 10519880 10775536 11903362 14572142 15147532 15795599 16157755 16278884 |
| CYP27A1 |
213700 |
Glucose-metabolism-disorders |
|
metabolic |
#15147532 |
| CYP27A1 |
213700 |
Diabetes-mellitus |
type 1 diabetes; insulin dependent
|
metabolic |
15147532 |
| CYP27A1 |
213700 |
Hyperbilirubinemia |
conjugated; jaundice
|
metabolic |
12555943 14572142 15795599 |
| CYP27A1 |
213700 |
Psychiatric-disorders |
|
psychiatric |
#2019602 #3344851 #7315872 #8514861 #10430841 #10775536 #12000359 #14572142 #16157755 #16278884 |
| CYP27A1 |
213700 |
Behavioral-symptoms |
behavioral abnormalities; delusions; social behavior abnormal; self neglect; sexual behavior abnormal; executive functions abnormal; neuropsychiatric phenotype; dependency; negativistic behavior
|
psychiatric |
3344851 8514861 14572142 16278884 |
| CYP27A1 |
213700 |
Aggression |
aggressive; agitated
|
psychiatric |
3344851 14572142 |
| CYP27A1 |
213700 |
Mental-disorders |
|
psychiatric |
#2019602 #3344851 #7315872 #8514861 #10430841 #10775536 #12000359 #14572142 #16157755 #16278884 |
| CYP27A1 |
213700 |
Anxiety-disorders |
anxious
|
psychiatric |
3344851 16278884 |
| CYP27A1 |
213700 |
Dementia |
fronto temporal lobe dementia; fronto temporal dementia; early onset dementia
|
psychiatric |
2019602 3344851 7315872 8514861 10430841 10775536 12000359 14572142 16157755 16278884 |
| CYP27A1 |
213700 |
Mood-disorders |
|
psychiatric |
#14572142 |
| CYP27A1 |
213700 |
Depressive-disorder |
depressive; suicide attempts; depression
|
psychiatric |
14572142 |
| CYP27A1 |
213700 |
Growth-disorders |
|
miscellaneous |
#15795599 |
| CYP27A1 |
213700 |
Growth-deficiency |
intrauterine growth retardation
|
miscellaneous |
15795599 |
| CYP27A1 |
213700 |
Salivary-gland-diseases |
|
miscellaneous |
#11903362 #16157755 |
| CYP27A1 |
213700 |
Sialorrhea |
salivation; facial bradykinesia with drooling
|
miscellaneous |
11903362 16157755 |
| CYP27A1 |
213700 |
Mitochondria-abnormal |
ultrastructural abnormalities of mitochondria; inclusions; mitochondrial aggregates; irregular cristae
|
miscellaneous |
1763899 14572142 |
| CYP27A1 |
213700 |
Alkaline-phosphatase-abnormal |
alkaline phosphatase elevated; transaminases elevated; serum
|
miscellaneous |
12555943 15795599 |
