Platelet Prostacyclin Receptor Defect |
|
Intermittent claudication |
OMIM:262875 |
Raynaud Disease |
|
Raynaud phenomenon |
OMIM:179600 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Type II lissencephaly, Cerebellar dysplasia, Neural tube defect |
OMIM:615041 |
Intracranial Hypertension, Idiopathic |
|
Hypertension |
OMIM:243200 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Hypertension |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Hypertension |
OMIM:605572 |
Spinocerebellar Ataxia Type 27 |
|
Memory impairment, Cerebellar atrophy, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Ga... |
ORPHA:98764 |
Congenital Aortic Valve Stenosis |
|
Aortic valve stenosis, Abnormal pulse pressure, Increased QRS voltage, Abnormal T-wave, Reduced l... |
ORPHA:3093 |
Cardiogenic Shock |
|
Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail... |
ORPHA:97292 |
Antithrombin Iii Deficiency |
|
Pulmonary embolism, Arterial occlusion |
OMIM:613118 |
Spinocerebellar Ataxia Type 21 |
|
Cerebellar vermis atrophy, Akinesia, Gait ataxia, Cognitive impairment, Progressive cerebellar at... |
ORPHA:98773 |
Spinocerebellar Ataxia 21 |
|
Mental deterioration, Cerebellar atrophy, Akinesia, Limb ataxia, Gait ataxia, Cognitive impairmen... |
OMIM:607454 |
Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Hypertension |
OMIM:618464 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Dementia, Mental deterioration, Akinesia, Cerebellar atrophy |
OMIM:300894 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Blepharospasm, Short stepped shuffling gait, Falls, Akinesia, Gait imbalance, Freezing of gait, L... |
ORPHA:240094 |
Supravalvular Aortic Stenosis |
|
Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart... |
ORPHA:3193 |
Hyperaldosteronism, Familial, Type Iv |
|
Hypertension |
OMIM:617027 |
Congenital Analbuminemia |
|
Low pulse pressure |
ORPHA:86816 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydranencephaly, Polymicrogyria, Pterygium, Akinesia, Cerebellar hypoplasia, Hydrocephalus, Dandy... |
OMIM:225790 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Shuffling gait, Memory impairment, Akinesia, Gait ataxia, Ataxia, Dementia, Cerebellar cortical a... |
ORPHA:247234 |
Fibromuscular Dysplasia, Arterial |
|
Renovascular hypertension, Myocardial infarction, Intermittent claudication |
OMIM:135580 |
Exercise-Induced Malignant Hyperthermia |
|
Hypotension, Abnormal pulse pressure, Sinus tachycardia, Abnormal T-wave, ST segment depression, ... |
ORPHA:466650 |
Atrial Fibrillation, Familial, 14 |
|
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension |
OMIM:615378 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Truncal ataxia, Akinesia, Cerebellar atrophy, Choreoathetosis |
OMIM:618249 |
Aceruloplasminemia |
|
Blepharospasm, Memory impairment, Chorea, Limb ataxia, Gait ataxia, Akinesia, Abnormal dentate nu... |
ORPHA:48818 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypertension |
OMIM:605635 |
Corticobasal Syndrome |
|
Memory impairment, Somatic sensory dysfunction, Akinesia, Gait disturbance, Dementia |
ORPHA:454887 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Hypertension |
OMIM:605115 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Mental deterioration, Falls, Akinesia, Gait imbalance, Conjunctival hyperemia, Soc... |
ORPHA:240071 |
Atypical Juvenile Parkinsonism |
|
Short stepped shuffling gait, Shuffling gait, Inability to walk, Akinesia, Gait ataxia |
ORPHA:391411 |
Fetal Akinesia Deformation Sequence |
|
Pterygium, Akinesia, Dandy-Walker malformation |
ORPHA:994 |
Kufor-Rakeb Syndrome |
|
Akinesia, Distal sensory impairment, Gait disturbance, Ataxia, Dementia |
OMIM:606693 |
Manganese Poisoning |
|
Confusion, Akinesia, Memory impairment, Gait disturbance |
ORPHA:306682 |
Perry Syndrome |
|
Short stepped shuffling gait, Akinesia, Frontotemporal dementia |
OMIM:168605 |
Postencephalitic Parkinsonism |
|
Akinesia, Paresthesia, Bilateral ptosis |
ORPHA:97349 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Dementia, Mental deterioration, Akinesia |
OMIM:616840 |
Multiple Pterygium Syndrome, Lethal Type |
|
Epicanthus, Akinesia, Multiple pterygia |
OMIM:253290 |
Parkinson Disease 17 |
|
Akinesia |
OMIM:614203 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Akinesia, Freezing of gait |
OMIM:619911 |
Congenital Myopathy 9A |
|
Akinesia |
OMIM:618822 |
Arthrogryposis Multiplex Congenita 6 |
|
Akinesia |
OMIM:619334 |
Lethal Congenital Contracture Syndrome 2 |
|
Akinesia |
OMIM:607598 |
Supranuclear Palsy, Progressive, 2 |
|
Memory impairment, Falls, Frontolimbic dementia, Akinesia, Gait imbalance, Eyelid apraxia |
OMIM:609454 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Blepharospasm, Mental deterioration, Akinesia, Gait disturbance, Ataxia, Dementia, Eyelid apraxia... |
OMIM:234200 |
Dpagt1-Cdg |
|
Inability to walk, Akinesia, Abnormal cerebellum morphology, Cerebellar hypoplasia, Ataxia |
ORPHA:86309 |
Hereditary Late-Onset Parkinson Disease |
|
Dementia, Mental deterioration, Shuffling gait, Akinesia |
ORPHA:411602 |
Congenital Myopathy 12 |
|
Akinesia |
OMIM:612540 |
Supranuclear Palsy, Progressive, 1 |
|
Memory impairment, Falls, Frontolimbic dementia, Akinesia, Gait imbalance, Eyelid apraxia |
OMIM:601104 |
Gaucher Disease, Perinatal Lethal |
|
Progressive neurologic deterioration, Akinesia |
OMIM:608013 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Akinesia |
OMIM:619147 |
Arthrogryposis Multiplex Congenita 5 |
|
Akinesia, Ptosis, Upslanted palpebral fissure |
OMIM:618947 |
African Trypanosomiasis |
|
Myelopathy, Somatic sensory dysfunction, Difficulty walking, Akinesia, Paresthesia, Gait disturba... |
ORPHA:3385 |