Gene Summary

Name:
tyrosine hydroxylase
Synonyms:
N/A

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal gait Them1(IMPC)H HET Early adult 5.55×10-07
preweaning lethality, complete penetrance Them1(IMPC)H HOM   Early adult 0.00

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Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

OPT E9.5

Embryo reconstruction

5 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Human diseases caused by Th mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Th by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Th by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Psychogenic Movement Disorders
Gait disturbance ORPHA:71519
Benign Hereditary Chorea
Gait disturbance ORPHA:1429
Specific Language Impairment 2
Deficit in phonologic short-term memory OMIM:606712
Specific Language Impairment 1
Deficit in phonologic short-term memory OMIM:606711
Presenile Dementia, Kraepelin Type
Dementia OMIM:176600
Vertigo, Benign Recurrent
Gait imbalance OMIM:193007
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Schizophrenia 19
Cognitive impairment OMIM:617629
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant
Dementia, Cognitive impairment OMIM:618564
Alzheimer Disease 10
Memory impairment, Dementia OMIM:609636
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Schizophrenia
Social and occupational deterioration OMIM:181500
Deafness, Autosomal Recessive 70, With Or Without Adult-Onset Neurodegeneration
Cognitive impairment OMIM:614934
Foix-Chavany-Marie Syndrome
Maternal diabetes, Cognitive impairment ORPHA:2048
Early-Onset Generalized Limb-Onset Dystonia
Gait disturbance ORPHA:256
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity OMIM:300911
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... OMIM:607688
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Brugada Syndrome
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... ORPHA:130
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... OMIM:260300
Parkinson Disease 5, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:613643
Paragangliomas 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Meconium Aspiration Syndrome
Respiratory distress, Aspiration pneumonia, Pulmonary insufficiency, Maternal diabetes, Wheezing,... ORPHA:70588
Spinocerebellar Ataxia 41
Ataxia, Unsteady gait OMIM:616410
Cardiomyopathy, Familial Hypertrophic, 13
Angina pectoris, Left anterior fascicular block, ST segment depression, Concentric hypertrophic c... OMIM:613243
Paralysis Agitans, Juvenile, Of Hunt
Tremor, Rigidity, Bradykinesia, Parkinsonism OMIM:168100
Infant Acute Respiratory Distress Syndrome
Cyanosis, Tachycardia, Hypotension, Tachypnea, Atelectasis, Respiratory failure, Pneumonia, Hypox... ORPHA:70587
Congenital Left Ventricular Aneurysm
Apnea, Abnormal T-wave, Abnormal ST segment, Arrhythmia, Congestive heart failure ORPHA:1055
Sinoatrial Node Dysfunction And Deafness
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope OMIM:614896
Bronchopulmonary Dysplasia
Respiratory distress, Hyperoxemia, Right ventricular failure, Abnormal respiratory system physiol... ORPHA:70589
Dystonia 16
Torticollis, Bradykinesia, Abnormal pyramidal sign, Parkinsonism, Postural tremor ORPHA:210571
Asbestos Intoxication
Interlobular septal thickening, Oxygen desaturation on exertion, Reduced vital capacity, Diffuse ... ORPHA:2302
Mitochondrial Complex I Deficiency, Nuclear Type 30
Respiratory failure, Neonatal death, Congestive heart failure OMIM:301021
Brugada Syndrome 9
Presyncope, Palpitations, ST segment elevation, Prolonged QT interval OMIM:616399
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmi... ORPHA:45452
Tako-Tsubo Cardiomyopathy
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Prolonged QT interva... ORPHA:66529
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Bradykinesia, Rigidity, Spasticity, Fasciculations OMIM:183050
Dystonia, Dopa-Responsive
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... OMIM:128230
Brugada Syndrome 7
Permanent atrial fibrillation, Prolonged P wave, ST segment elevation, Atrial flutter, Paroxysmal... OMIM:613120
Autosomal Dominant Striatal Neurodegeneration
Rigidity, Dysdiadochokinesis, Bradykinesia ORPHA:228169
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Airway obstruction, Systolic heart murmur, Pneumonia, Transient isch... ORPHA:99103
Parkinson Disease 2, Autosomal Recessive Juvenile
Tremor, Rigidity, Bradykinesia, Parkinsonism OMIM:600116
Spinocerebellar Ataxia Type 20
Ataxia, Isometric tremor, Bradykinesia, Intention tremor, Tremor by anatomical site, Abnormal pyr... ORPHA:101110
Delayed Encephalopathy Due To Carbon Monoxide Poisoning
Rigidity, Bradykinesia ORPHA:306686
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... OMIM:615916
Spinocerebellar Ataxia Type 12
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Intention tremor, Tremor by an... ORPHA:98762
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Lethargy, Ataxia, Bradykinesia, Chorea OMIM:618683
Bardet-Biedl Syndrome 12
Hypogonadism, Cognitive impairment OMIM:615989
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Arrhythmia, ST segment elevation, T-wave inversion, Ventricular tachycardia, Right ... ORPHA:263297
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Spastic tetraparesis, Spastic gait, Abnormal pyramidal sign, Bradykinesia OMIM:619052
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Bradykinesia, Dysmetria, Abnormal pyramidal sign, Parkinsonism, Chorea OMIM:618317
Atrial Fibrillation, Familial, 18
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... OMIM:617280
Ciliary Dyskinesia, Primary, 21
Atelectasis, Ciliary dyskinesia, Chronic sinusitis, Recurrent pneumonia, Bronchiectasis, Neonatal... OMIM:615294
Chronic Atrial And Intestinal Dysrhythmia
Failure to thrive, Bicuspid aortic valve, Decreased body weight, Pulmonic stenosis, Mitral regurg... OMIM:616201
Atrial Standstill
Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpitations, Mobitz I atrioventri... ORPHA:1344
Lethal Congenital Contracture Syndrome 3
Respiratory insufficiency, Neonatal death OMIM:611369
Cardiogenic Shock
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... ORPHA:97292
Acute Interstitial Pneumonia
Interlobular septal thickening, Pulmonary infiltrates, Nodular pattern on pulmonary HRCT, Nonprod... ORPHA:79126
Parkinson Disease 6, Autosomal Recessive Early-Onset
Rigidity, Parkinsonism, Bradykinesia, Resting tremor OMIM:605909
Striatal Degeneration, Autosomal Dominant 1
Rigidity, Dysdiadochokinesis, Bradykinesia OMIM:609161
Parkinson Disease 17
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor OMIM:614203
Parkinson Disease 22, Autosomal Dominant
Tremor, Bradykinesia, Resting tremor OMIM:616710
Progressive Supranuclear Palsy-Corticobasal Syndrome
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:240103
Spastic Paraplegia 80, Autosomal Dominant
Bradykinesia, Limb ataxia, Babinski sign, Spastic paraplegia, Upper limb spasticity, Lower limb s... OMIM:618418
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... ORPHA:314632
Brugada Syndrome 6
Cardiac arrest, Ventricular fibrillation, ST segment elevation OMIM:613119
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Oxygen desaturation on exertion, Respiratory distress, Pulmonary infiltrates, Asthma, Decreased r... OMIM:610978
Autosomal Dominant Spastic Paraplegia Type 3
Bradykinesia, Ankle clonus, Babinski sign, Rigidity, Frequent falls, Lower limb hypertonia, Spast... ORPHA:100984
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Action tremor, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, Spasticity, Apraxia, Slurred ... OMIM:300423
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto... OMIM:213600
Cyanide-Induced Parkinsonism-Dystonia
Rigidity, Parkinsonism, Bradykinesia, Resting tremor ORPHA:306692
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Hypertonia, Bradykinesia, Limb ataxia, Babinski sign, Parkinsonism, Rigidity OMIM:618824
Recurrent Respiratory Papillomatosis
Respiratory distress, Tracheomalacia, Nonproductive cough, Respiratory insufficiency, Tachypnea, ... ORPHA:60032
Parkinsonism With Polyneuropathy
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... OMIM:619279
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Hepatomegaly, Left ventricular hypertrophy, Elevated circulating aspartate ami... OMIM:619048
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Spastic paraparesis, Rigidity, Parkinsonism, Tremor, Abnormality of extrapyramidal ... OMIM:300894
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea, Death in infancy, Hypertrophic cardiomyopathy, Respiratory failure, Bradycardia OMIM:616277
Parkinson Disease 19A, Juvenile-Onset
Bradykinesia, Pill-rolling tremor, Limb hypertonia, Abnormal pyramidal sign, Rigidity, Parkinsoni... OMIM:615528
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Arrhythmia, Bradycardia OMIM:617182
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Bradykinesia, Ankle clonus, Babinski sign, Parkinsonism, Tremor, Spasticity, Scissor gait ORPHA:521406
Pulmonary Nodular Lymphoid Hyperplasia
Dyspnea, Ground-glass opacification, Cough, Nodular pattern on pulmonary HRCT ORPHA:60026
Surfactant Metabolism Dysfunction, Pulmonary, 1
Interlobular septal thickening, Apnea, Cyanosis, Neonatal death, Ground-glass opacification, Tach... OMIM:265120
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pulmonary infiltrates, Nonproductive cough, Pleural empyema, Parenchymal co... ORPHA:36238
Pulmonary Blastoma
Dyspnea, Pulmonary infiltrates, Recurrent pneumonia, Cough ORPHA:64741
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Lower limb spasticity, Bradykinesia OMIM:618878
Brugada Syndrome 5
Bundle branch block, ST segment elevation, Ventricular fibrillation OMIM:612838
Butyrylcholinesterase Deficiency
Myocardial infarction, Respiratory failure requiring assisted ventilation, Respiratory failure, C... ORPHA:132
Dystonia 12
Torticollis, Tremor, Bradykinesia, Parkinsonism OMIM:128235
Mucus Inspissation Of Respiratory Tract
Bronchiectasis, Atelectasis, Chronic sinusitis, Chronic pulmonary obstruction OMIM:253240
Tropical Endomyocardial Fibrosis
Pulmonary venous hypertension, Systolic heart murmur, Decreased QRS voltage, Reduced left ventric... ORPHA:75565
Spastic Paraplegia 78, Autosomal Recessive
Ataxia, Bradykinesia, Resting tremor, Abnormal pyramidal sign, Babinski sign, Parkinsonism, Spast... OMIM:617225
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Decreased nasal nitric oxide, Atelectasis, Ciliary dyskinesia OMIM:615872
Huntington Disease
Rigidity, Gait ataxia, Bradykinesia, Chorea OMIM:143100
Autosomal Recessive Dopa-Responsive Dystonia
Ataxia, Bradykinesia, Myoclonus, Babinski sign, Rigidity, Parkinsonism, Gait ataxia, Postural tre... ORPHA:101150
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation OMIM:615378
3-Methylglutaconic Aciduria, Type Viii
Apnea, Respiratory failure, Death in infancy, Bradycardia OMIM:617248
Hyperphenylalaninemia, Bh4-Deficient, A
Hypertonia, Ataxia, Bradykinesia, Rigidity, Parkinsonism, Tremor, Choreoathetosis OMIM:261640
Intellectual Developmental Disorder With Cardiac Arrhythmia
Sick sinus syndrome, Arrhythmia, Bradycardia OMIM:617173
Corticobasal Syndrome
Progressive extrapyramidal muscular rigidity, Bradykinesia, Myoclonus, Oromotor apraxia, Parkinso... ORPHA:454887
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Respiratory failure, Death in infancy, Central apnea OMIM:611722
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Respiratory distress, Apnea, Nodular pattern on pulmonary HRCT, Nonspecific... OMIM:610921
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... OMIM:601419
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Prolonged QTc inte... OMIM:616249
Immunodeficiency 95
Respiratory distress, Recurrent viral pneumonia, Respiratory failure, Ground-glass opacification OMIM:619773
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Huntington Disease-Like 2
Rigidity, Action tremor, Bradykinesia, Chorea OMIM:606438
Paroxysmal Extreme Pain Disorder
Tachycardia, Rhinorrhea, Bradycardia OMIM:167400
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Ventricular tachycardia, Polymorphic ventricular tachycardia, Syncope OMIM:611938
Parkinson Disease 7, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, Bradykinesia, Res... OMIM:606324
Peripartum Cardiomyopathy
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Respiratory failure, Left ... ORPHA:563
Spinocerebellar Ataxia 17
Ataxia, Bradykinesia, Dysmetria, Limb ataxia, Intention tremor, Myoclonus, Parkinsonism, Rigidity... OMIM:607136
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Resting tremor, Spastic paraparesis, Ankle clonus, Babinski sign, Cogwheel rigidity... ORPHA:363654
Caribbean Parkinsonism
Action tremor, Bradykinesia, Myoclonus, Rigidity, Parkinsonism, Weakness due to upper motor neuro... ORPHA:97355
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Tricuspid regurgitation, Left ventricular hypertrophy, Atrial flut... OMIM:614022
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Rapid-Onset Dystonia-Parkinsonism
Torticollis, Bradykinesia, Resting tremor, Parkinsonism, Gait ataxia ORPHA:71517
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Spinal Muscular Atrophy, Type I
Respiratory insufficiency, Death in childhood, Respiratory failure OMIM:253300
Idiopathic Chronic Eosinophilic Pneumonia
Asthma, Nonproductive cough, Crackles, Parenchymal consolidation, Wheezing, Atelectasis, Abnormal... ORPHA:2902
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Abnormal mucociliary clearance, Atelectasis, Bronchiectasis OMIM:619466
Spinocerebellar Ataxia, Autosomal Recessive 32
Torticollis, Bradykinesia, Limb ataxia, Limb myoclonus, Gait ataxia, Postural tremor OMIM:619862
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval OMIM:618782
Ciliary Dyskinesia, Primary, 20
Respiratory insufficiency due to defective ciliary clearance, Cough, Recurrent sinusitis, Atelect... OMIM:615067
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Tachypnea, Atelectasis, Neonatal respiratory distress, Dyspnea OMIM:267450
Acquired Aneurysmal Subarachnoid Hemorrhage
ST segment depression, Cerebral hemorrhage, Cerebral ischemia, Syncope, Prolonged QTc interval, M... ORPHA:90065
Adult Acute Respiratory Distress Syndrome
Abnormal blood gas level, Pulmonary infiltrates, Diabetic ketoacidosis, Vasculitis, Hypotension, ... ORPHA:70578
Developmental Delay And Seizures With Or Without Movement Abnormalities
Rigidity, Tremor, Ataxia, Bradykinesia OMIM:617836
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... OMIM:604559
Infantile Dystonia-Parkinsonism
Hypertonia, Bradykinesia, Limb hypertonia, Abnormal pyramidal sign, Parkinsonism, Cerebral palsy,... ORPHA:238455
Coenzyme Q10 Deficiency, Primary, 7
Respiratory insufficiency, Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Ciliary Dyskinesia, Primary, 33
Cough, Chronic rhinitis, Atelectasis, Ciliary dyskinesia, Recurrent pneumonia, Bronchiectasis OMIM:616726
Incessant Infant Ventricular Tachycardia
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... ORPHA:45453
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory insufficiency, Respiratory failure OMIM:208081
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... OMIM:616117
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism, Bradykinesia, Resting tremor OMIM:614251
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia ORPHA:240085
Parkinson Disease 21
Tremor, Rigidity, Bradykinesia, Parkinsonism OMIM:616361
Familial Short Qt Syndrome
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... ORPHA:51083
Lopes-Maciel-Rodan Syndrome
Hypertonia, Bradykinesia, Ankle clonus, Abnormal pyramidal sign, Tremor, Spasticity OMIM:617435
Dystonia 16
Bradykinesia, Retrocollis, Abnormal pyramidal sign, Parkinsonism, Involuntary movements, Postural... OMIM:612067
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Spastic paraparesis, Rigidity, Parkinsonism, Tremor ORPHA:329284
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Hypertonia, Limb hypertonia, Bradykinesia, Parkinsonism OMIM:617384
Cardiomyopathy, Dilated, 2G
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Myofiber disarray, M... OMIM:619897
Juvenile Huntington Disease
Ataxia, Progressive cerebellar ataxia, Bradykinesia, Myoclonus, Rigidity, Chorea, Gait ataxia ORPHA:248111
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Death in infancy, Bradycardia OMIM:616299
Leber Optic Atrophy And Dystonia
Upper motor neuron dysfunction, Bradykinesia, Spasticity, Athetosis OMIM:500001
Neurodegeneration With Brain Iron Accumulation 6
Rigidity, Spastic tetraplegia, Spastic paraparesis, Bradykinesia OMIM:615643
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure OMIM:618328
Sudden Cardiac Failure, Infantile
Myocardial fibrosis, Sudden cardiac death, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy,... OMIM:617222
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Ataxia, Bradykinesia, Spastic paraparesis, Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, ... OMIM:615157
Congenitally Corrected Transposition Of The Great Arteries
Mobitz I atrioventricular block, Heart murmur, Sick sinus syndrome, Ventricular septal defect, Ab... ORPHA:216694
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Bradykinesia, Rigidity, Parkinsonism, Spasticity, Apraxia OMIM:221820
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... OMIM:600858
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... OMIM:602087
Paragangliomas 3
Glomus jugular tumor, Hypertension associated with pheochromocytoma, Palpitations, Tachycardia, E... OMIM:605373
Parkinsonism-Dystonia 1, Infantile-Onset
Hypertonia, Bradykinesia, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Hyperkinetic m... OMIM:613135
Long Qt Syndrome 9
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... OMIM:611818
Paragangliomas 1
Glomus jugular tumor, Hypertension associated with pheochromocytoma, Palpitations, Tachycardia, E... OMIM:168000
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Hypertonia, Ataxia, Bradykinesia, Opisthotonus, Myoclonus, Rigidity, Hyperkinetic movements, Chor... ORPHA:13
Spinocerebellar Ataxia 10
Progressive cerebellar ataxia, Bradykinesia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Babinski... OMIM:603516
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Ataxia, Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Spastic paraplegia, Tremor, Ch... OMIM:300055
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Atelectasis, Chronic sinusitis OMIM:300455
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... OMIM:602086
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Parkinsonism... OMIM:619725
Spinocerebellar Ataxia 2
Ataxia, Action tremor, Progressive cerebellar ataxia, Bradykinesia, Limb ataxia, Dysmetria, Myocl... OMIM:183090
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Apnea, Bronchospasm, Cardiorespiratory arrest, Abnormal pattern of respiration, Stridor, Bradycardia OMIM:608800
Pneumocystosis
Nonproductive cough, Respiratory insufficiency, Interstitial pneumonitis, Acute infectious pneumo... ORPHA:723
Cardiomyopathy, Familial Hypertrophic, 4
Right atrial enlargement, Left bundle branch block, Congestive heart failure, Myofiber disarray, ... OMIM:115197
Sick Sinus Syndrome 4
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... OMIM:619464
Glutamine Deficiency, Congenital
Neonatal respiratory distress, Apnea, Neonatal death, Bradycardia OMIM:610015
Kufor-Rakeb Syndrome
Paraparesis, Hypertonia, Ataxia, Parkinsonism with favorable response to dopaminergic medication,... OMIM:606693
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Bradycardia, Dilated cardiomyopathy, Death in infancy, Hypertrophic cardiomyopathy OMIM:618815
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Arrhythmia, Bradycardia OMIM:614302
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Reduced forced expiratory volume in one second, Reduced FEV1/FVC ratio, Airway obstruction, Nonpr... ORPHA:1303
Parkinson Disease 8, Autosomal Dominant
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting tremor, Ri... OMIM:607060
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Cystic pattern on pulmonary HRCT, Cyano... OMIM:610913
Long Qt Syndrome 13
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... OMIM:613485
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Babinski sign, Bradykinesia OMIM:619063
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Apnea, Death in infancy, Bradycardia OMIM:614498
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Permanent atrial fibrillation, Right atrial enlargement, Left bun... OMIM:617047
Recessive Mitochondrial Ataxia Syndrome
ST segment elevation, Hashimoto thyroiditis ORPHA:94125
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Clumsiness, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Postural tremor OMIM:619911
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Respiratory insufficiency, Reduced maximal inspiratory pressure, Abnormal... ORPHA:266
Long Qt Syndrome 2
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613688
Tracheobronchopathia Osteochondroplastica
Respiratory insufficiency, Wheezing, Atelectasis, Upper airway obstruction, Pneumonia, Recurrent ... ORPHA:3348
Hemiparkinsonism-Hemiatrophy Syndrome
Tremor, Bradykinesia, Hemiparesis, Parkinsonism ORPHA:306669
Sick Sinus Syndrome 2
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... OMIM:163800
Coenzyme Q10 Deficiency, Primary, 5
Respiratory insufficiency, Bradycardia OMIM:614654
Multiple Mitochondrial Dysfunctions Syndrome 1
Hypertension, Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure OMIM:605711
Familial Nasal Acilia
Respiratory distress, Chronic rhinitis, Atelectasis, Chronic sinusitis, Bronchiectasis, Dyspnea ORPHA:922
Huntington Disease-Like 1
Clumsiness, Bradykinesia, Poor fine motor coordination, Dysmetria, Simultanapraxia, Chorea, Frequ... ORPHA:157941
Idiopathic Acute Eosinophilic Pneumonia
Pulmonary infiltrates, Respiratory insufficiency, Cough, Restrictive ventilatory defect, Abnormal... ORPHA:724
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Parkinsonism, Bradykinesia ORPHA:412066
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... OMIM:115200
Acute Lung Injury
Respiratory distress, Pulmonary infiltrates, Tachypnea, Shock, Pneumonia, Hypoxemia, Dyspnea, Dif... ORPHA:178320
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Bradykinesia, Extrapyramidal muscular rigidity, Tremor by anatomical site, Abnorma... ORPHA:99750
Atypical Juvenile Parkinsonism
Bradykinesia, Resting tremor, Myoclonus, Abnormal pyramidal sign, Rigidity, Gait ataxia, Involunt... ORPHA:391411
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Hypertonia, Bradykinesia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, Head titubation, Tre... OMIM:618877
Timothy Syndrome
Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, P... OMIM:601005
Fragile X Tremor/Ataxia Syndrome
Action tremor, Bradykinesia, Poor fine motor coordination, Resting tremor, Dysmetria, Intention t... OMIM:300623
X-Linked Dystonia-Parkinsonism
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:53351
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Ataxia, Bradykinesia, Dysmetria, Truncal ataxia, Hemiparesis, Gait ataxia, Incoordination, Episod... OMIM:601338
Multiple System Atrophy
Progressive cerebellar ataxia, Bradykinesia, Resting tremor, Abnormal pyramidal sign, Rigidity, P... ORPHA:102
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Premature ventricular contraction, Hypotension, Elevated hepatic transaminase, Vent... OMIM:212138
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... OMIM:609621
Idiopathic Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr... ORPHA:95717
Cardiomyopathy, Familial Hypertrophic, 10
Supraventricular tachycardia, Left bundle branch block, Palpitations, Sudden cardiac death, T-wav... OMIM:608758
Idiopathic Pulmonary Hemosiderosis
Pulmonary infiltrates, Nodular pattern on pulmonary HRCT, Crackles, Reticular pattern on pulmonar... ORPHA:99931
Long Qt Syndrome 5
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:613695
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Exertional dyspnea, Atelectasis, Right bundle branch block ORPHA:254361
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:610127
Inherited Creutzfeldt-Jakob Disease
Progressive extrapyramidal muscular rigidity, Clumsiness, Progressive cerebellar ataxia, Bradykin... ORPHA:282166
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Blepharospasm, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, Chorea, Tremor, Chore... OMIM:606159
Sick Sinus Syndrome 1
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... OMIM:608567
Atrial Standstill 2
Atrial arrhythmia, Atrial standstill, Palpitations, Absent P wave, Atrial cardiomyopathy, Dyspnea... OMIM:615745
Avian Influenza
Respiratory distress, Pulmonary infiltrates, Miscarriage, Nonproductive cough, Ground-glass opaci... ORPHA:454836
Nemaline Myopathy 8
Respiratory failure, Death in infancy OMIM:615348
Machado-Joseph Disease
Ataxia, Progressive cerebellar ataxia, Bradykinesia, Limb ataxia, Babinski sign, Parkinsonism, Tr... OMIM:109150
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:228940
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscu... OMIM:619371
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Respiratory distress, Crackles, Tachycardia, Acute infectious pneumonia, Ta... ORPHA:264675
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... OMIM:614021
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Ventricular preexcitation with multiple ac... OMIM:194200
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Dilated cardiomyopathy, Death in infancy, Hypertrophic cardiomyopathy,... OMIM:614299
Nathalie Syndrome
Abnormal EKG OMIM:255990
Hypermanganesemia With Dystonia 1
Bradykinesia, Poor fine motor coordination, Spastic paraparesis, Rigidity, Parkinsonism, Tremor, ... OMIM:613280
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... OMIM:612240
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Cough, Respiratory failure requiring assisted ventilation, Dyspnea, Respira... ORPHA:90117
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... OMIM:604400
Romano-Ward Syndrome
Torsade de pointes, Abnormal T-wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Prolo... ORPHA:101016
Congenital Arthrogryposis With Anterior Horn Cell Disease
Respiratory failure, Neonatal death, Respiratory insufficiency due to muscle weakness OMIM:611890
Mitochondrial Membrane Protein-Associated Neurodegeneration
Bradykinesia, Hand tremor, Spastic paraparesis, Babinski sign, Parkinsonism, Rigidity, Frequent f... ORPHA:289560
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Respiratory failure OMIM:616081
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Atelectasis, Neonatal death, Death in infancy OMIM:300219
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ventricular cardiom... OMIM:609040
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Syncope, Sinus bradycardia, Complete heart block with narrow QRS complexes,... OMIM:140400
Long Qt Syndrome 8
Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillation, Sinus bradycardi... OMIM:618447
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure, Congestive heart failure OMIM:616794
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory insufficiency, Respiratory failure OMIM:613869
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Decreased circulating T4 concentration, Congenital hypothyroidism, Elevated... ORPHA:226313
Wild Type Attr Amyloidosis
Hepatomegaly, Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Myocardial infarc... ORPHA:330001
Gitelman Syndrome
Respiratory distress, Graves disease, Abnormal T-wave, ST segment depression, Type II diabetes me... ORPHA:358
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... OMIM:610193
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Sudden cardiac death, Palpitations, T-wave inversion, Ventricular fib... OMIM:608751
Familial Isolated Restrictive Cardiomyopathy
Supraventricular arrhythmia, Abnormal left ventricular function, Pulmonary venous hypertension, R... ORPHA:75249
Cardiac Arrhythmia, Ankyrin-B-Related
Sudden cardiac death, Syncope, Atrial fibrillation, Sinus bradycardia, Prolonged QT interval OMIM:600919
Multiple System Atrophy, Parkinsonian Type
Progressive cerebellar ataxia, Bradykinesia, Resting tremor, Abnormal pyramidal sign, Rigidity, P... ORPHA:98933
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Atrial fibrillation, Prolonged QT interval, Atrioventricu... OMIM:611819
Cirrhotic Cardiomyopathy
Right atrial enlargement, Hepatomegaly, Jaundice, Third heart sound, Left ventricular diastolic d... ORPHA:57777
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... ORPHA:95716
Autosomal Recessive Progressive External Ophthalmoplegia
Ataxia, Action tremor, Bradykinesia, Parkinsonism with favorable response to dopaminergic medicat... ORPHA:254886
Spinocerebellar Ataxia Type 1
Progressive cerebellar ataxia, Bradykinesia, Dysmetria, Dysdiadochokinesis, Fasciculations, Chore... ORPHA:98755
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, Tremor, Gait ataxia... OMIM:137440
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Bradykinesia, Limb hypertonia, Cerebral palsy, Rigidity, Tremor ORPHA:70594
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Abnormal P wave, Left-to-right shunt, Systolic heart murmur, Third... ORPHA:1329
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy OMIM:225753
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Arthrogryposis Multiplex Congenita 6
Death in childhood, Respiratory failure, Neonatal death, Death in infancy OMIM:619334
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased lef... OMIM:601494
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Atrioventricular dissociation, Tachycardia, Tetralogy of Fallot, Right bund... OMIM:614954
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Prolonged QRS complex, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, T-wave ... OMIM:611528
Generalized Epilepsy With Febrile Seizures-Plus
Ataxia, Bradykinesia, Poor fine motor coordination, Tremor, Incoordination ORPHA:36387
Pure Autonomic Failure
Orthostatic hypotension, Abnormality of circulating catecholamine level, Syncope ORPHA:441
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Hypertrophic cardiomyopathy, Respiratory failure, Death in infancy OMIM:619386
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... OMIM:604772
Multiple System Atrophy, Cerebellar Type
Progressive cerebellar ataxia, Bradykinesia, Resting tremor, Limb ataxia, Abnormal pyramidal sign... ORPHA:227510
Atrial Septal Defect, Ostium Primum Type
Systolic heart murmur, Right bundle branch block, Atrioventricular block, Palpitations, Syncope, ... ORPHA:99106
Scorpion Envenomation
Bundle branch block, Premature ventricular contraction, ST segment depression, Tachycardia, Arrhy... ORPHA:466677
Histiocytosis, Familial Lipochrome
Pulmonary infiltrates OMIM:235900
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Supraventricular tachycardia, Myofiber disarray, Left ventricular hypertrophy, Left ventricular n... OMIM:612158
Dravet Syndrome
Action tremor, Bradykinesia, Poor fine motor coordination, Myoclonus, Rigidity, Parkinsonism, Cog... ORPHA:33069
Huntington Disease
Clumsiness, Bradykinesia, Poor fine motor coordination, Myoclonus, Babinski sign, Rigidity, Chore... ORPHA:399
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Hypergonadotropic hypogonadism, Arrhythmia, Dilated cardiomyopathy, Dyspnea, Respiratory failure,... ORPHA:352447
Idiopathic Pulmonary Fibrosis
Pulmonary insufficiency, Crackles, Reticular pattern on pulmonary HRCT, Cough, Ground-glass opaci... ORPHA:2032
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval OMIM:220400
Coronary Arterial Fistula
Angina pectoris, Abnormal left ventricular function, Aortic valve stenosis, Systolic heart murmur... ORPHA:2041
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... ORPHA:439
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Bronchiectasis, Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Diffuse reticular or finel... ORPHA:79127
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Cough, Tachypnea, Respiratory failure OMIM:263000
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Sick sinus syndrome, Patent foramen ovale, Prolonged PR in... ORPHA:542306
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Sudden cardiac death, Palpitations, Orthopnea, Syncope, Ventricular tac... OMIM:613838
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Arrhythmia, Syncope, Dyspnea, Heart block, Congestive heart failure ORPHA:871
Muscular Dystrophy, Duchenne Type
Arrhythmia, Obstructive sleep apnea, Dilated cardiomyopathy, Abnormal EKG, Restrictive ventilator... OMIM:310200
Long Qt Syndrome 6
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613693
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Myocardial fibrosis, Left ventricular noncompaction cardiomyopathy, Right atrial enlargement, Hep... OMIM:619424
Segawa Syndrome, Autosomal Recessive
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... OMIM:605407
Waisman Syndrome
Cogwheel rigidity, Parkinsonism, Bradykinesia, Resting tremor OMIM:311510
Myopathy, Myosin Storage, Autosomal Recessive
Right axis deviation, Respiratory insufficiency, Death in early adulthood, Dilated cardiomyopathy... OMIM:255160
Scedosporiosis
Sinusitis, Apical pulmonary opacity, Pleural empyema, Cough, Pneumonia, Diabetes mellitus, Abnorm... ORPHA:449280
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Interlobular septal thickening, Pulmonary arterial hypertension, Abnormally loud pulmonic compone... OMIM:265450
Autosomal Dominant Dopa-Responsive Dystonia
Torticollis, Ataxia, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, Hypothyroidism, Gait at... ORPHA:98808
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Hypertrophic cardiomyopathy, Neonatal death, Respiratory insufficiency due to muscle weakness, De... OMIM:617184
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Abnormality of the thyroid gland, Arrhythmia, Diabetes mellitus, Hypogonadism, Cardiomyopathy, Br... OMIM:609286
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Atrial Septal Defect, Sinus Venosus Type
Supraventricular arrhythmia, Airway obstruction, Atrial arrhythmia, Systolic heart murmur, Right ... ORPHA:99105
Atrial Fibrillation, Familial, 9
Permanent atrial fibrillation, Palpitations, Prolonged QTc interval, Syncope, Paroxysmal atrial f... OMIM:613980
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Respiratory insufficiency, Death in childhood, Neonatal death, Death in infancy, Neonatal respira... OMIM:245400
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory distress, Respiratory insufficiency, Respiratory failure, Restrictive ventilatory defect OMIM:614399
Long Qt Syndrome 14
Prolonged QTc interval, Prolonged QT interval, T-wave alternans, Ventricular fibrillation, Cardia... OMIM:616247
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Apnea, Bradycardia OMIM:619814
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Combined Oxidative Phosphorylation Deficiency 12
Spastic tetraparesis, Bradykinesia OMIM:614924
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Cyanosis, Paroxysmal dyspnea, Stridor, Severely reduced left vent... ORPHA:444013
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Stuve-Wiedemann Syndrome 2
Respiratory distress, Death in adolescence, Neonatal death, Pulmonary arterial hypertension, Stil... OMIM:619751
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Abnormality of the hepatic vasculature, Hepatomegaly, Tricuspid regurgi... ORPHA:1677
Congenital Gerbode Defect
Bacterial endocarditis, Elevated right atrial pressure, Right atrial enlargement, Tricuspid regur... ORPHA:99095
Hypermanganesemia With Dystonia 2
Clumsiness, Bradykinesia, Opisthotonus, Ankle clonus, Babinski sign, Parkinsonism, Tremor, Spasti... OMIM:617013
Chronic Pneumonitis Of Infancy
Respiratory distress, Diffuse reticular or finely nodular infiltrations, Cyanosis, Ground-glass o... ORPHA:91359
Diffuse Alveolar Hemorrhage
Irregular septal thickening on pulmonary HRCT, Pulmonary venous hypertension, Pulmonary infiltrat... ORPHA:90060
Classic Progressive Supranuclear Palsy Syndrome
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:240071
Sporadic Infantile Bilateral Striatal Necrosis
Hemiplegia, Progressive extrapyramidal muscular rigidity, Bradykinesia, Resting tremor, Babinski ... ORPHA:225147
Rett Syndrome
Motor stereotypy, Bradykinesia, Increased serum leptin, Stereotypical hand wringing, Limb apraxia ORPHA:778
Atrial Fibrillation, Familial, 3
Permanent atrial fibrillation, Sudden cardiac death, Prolonged QTc interval, Syncope, Atrial fibr... OMIM:607554
Aapoaiv Amyloidosis
Sinus bradycardia, Left bundle branch block, Chronic pulmonary obstruction, Left ventricular outf... ORPHA:439232
Loeffler Endocarditis
Right bundle branch block, Weight loss, Pericarditis, Myocardial fibrosis, Abnormal morphology of... ORPHA:75566
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Failure to thrive, Truncal ataxia, Atrioventricular block, Bradycardia OMIM:614407
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:618291
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Arrhythmia, Hypotension, Tachypnea, Reduced left ventricular ejection fraction, Pleu... ORPHA:542323
Snakebite Envenomation
Respiratory paralysis, Intracranial hemorrhage, Tachycardia, Cardiogenic shock, Hypotension, Cere... ORPHA:449285
Central Hypoventilation Syndrome, Congenital, 3
Central hypoventilation, Apnea, Episodic hypertension, Respiratory failure OMIM:619483
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Decreased DLCO, Cough, Dyspnea, Pulmonary arterial hypertension, Centrilobular ground-glass opaci... OMIM:234810
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency, Recurrent pneumonia, Ventilator dependence with ... ORPHA:254875
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... OMIM:601154
Pulmonary Hemosiderosis
Recurrent intrapulmonary hemorrhage, Respiratory insufficiency, Transient pulmonary infiltrates OMIM:178550
Waardenburg Syndrome Type 3
Atelectasis, Acrocyanosis, Tracheomalacia ORPHA:896
Interstitial Lung Disease 1
Interlobular septal thickening, Crackles, Ground-glass opacification, Cough, Decreased DLCO, Intr... OMIM:619611
Adult-Onset Nemaline Myopathy
Bradykinesia ORPHA:171442
Long Qt Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:192500
Cryptogenic Organizing Pneumonia
Respiratory distress, Nonproductive cough, Cyanosis, Crackles, Ground-glass opacification, Pneumo... ORPHA:1302
Combined Oxidative Phosphorylation Deficiency 51
Aspiration pneumonia, Respiratory failure, Neonatal respiratory distress OMIM:619057
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Prolonged QRS complex, Prolonged P wave OMIM:614049
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Frontotemporal dementia, Memory impairment, Dementia OMIM:619132
Larsen-Like Syndrome, Lethal Type
Pulmonary insufficiency, Respiratory insufficiency, Neonatal death, Tracheomalacia OMIM:245650
Atrial Septal Defect, Coronary Sinus Type
Supraventricular arrhythmia, Bundle branch block, Unroofed coronary sinus, Anomalous pulmonary ve... ORPHA:99104
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Cholelithiasis, Small for gestational age, Ventricular septal defec... OMIM:618775
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Ventricular tachycardia, Right bundle branch block, H... OMIM:613251
Cardiomyopathy, Familial Hypertrophic, 11
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Atrial septal defect, ... OMIM:612098
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Exercise-Induced Malignant Hyperthermia
Abnormal T-wave, Abnormal pulse pressure, ST segment depression, Hypocapnia, Crackles, Hypotensio... ORPHA:466650
Bronchogenic Cyst
Cough, Atelectasis, Abnormal pulmonary thoracic imaging finding, Pneumonia, Dyspnea ORPHA:2357
Primary Ciliary Dyskinesia
Airway obstruction, Wheezing, Chronic rhinitis, Atelectasis, Chronic sinusitis, Productive cough,... ORPHA:244
Brugada Syndrome 3
J wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Atrial fibrillation, Shortened QT ... OMIM:611875
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Arrhythmia, Death in infancy, Hypertrophic cardiomyopathy, Respiratory failure, Congestive heart ... ORPHA:1194
Tularemia
Respiratory distress, Pulmonary infiltrates, Tachycardia, Cough, Abnormal pulmonary thoracic imag... ORPHA:3392
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Parkinson Disease 20, Early-Onset
Bradykinesia, Rigidity, Parkinsonism, Eyelid apraxia, Tremor OMIM:615530
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Bradykinesia, Limb ataxia, Intention tremor, Babinski sign, Parkinsonism, Truncal ataxia, Rigidit... OMIM:258450
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Slowed slurred speech, Bradykinesia OMIM:619827
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Hepatomegaly, Heart murmur, ... ORPHA:860
Spinocerebellar Ataxia Type 8
Ataxia, Bradykinesia, Limb ataxia, Rigidity, Spastic dysarthria, Gait ataxia, Spasticity ORPHA:98760
Parkinsonian-Pyramidal Syndrome
Bradykinesia, Intention tremor, Myoclonus, Abnormal pyramidal sign, Babinski sign, Parkinsonism, ... ORPHA:171695
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertension, Hyperinsulinemia, Respiratory failure ORPHA:363400
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Syncope, ... OMIM:615441
Postencephalitic Parkinsonism
Bradykinesia, Resting tremor, Tremor by anatomical site, Babinski sign, Abnormal pyramidal sign, ... ORPHA:97349
Vacterl Association With Hydrocephalus
Respiratory insufficiency, Stillbirth, Respiratory failure OMIM:276950
Manganese Poisoning
Hypertonia, Bradykinesia, Cogwheel rigidity, Postural tremor, Abnormality of extrapyramidal motor... ORPHA:306682
Familial Dilated Cardiomyopathy
Failure to thrive, Left bundle branch block, Mitral regurgitation, Palpitations, Left ventricular... ORPHA:217607
Childhood-Onset Nemaline Myopathy
Clumsiness, Bradykinesia ORPHA:171439
Parkinson Disease 14, Autosomal Recessive
Clumsiness, Bradykinesia, Hand tremor, Resting tremor, Ankle clonus, Pill-rolling tremor, Parkins... OMIM:612953
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Tetanus
Respiratory distress, Tachycardia, Tachypnea, Hypertension, Bradycardia ORPHA:3299
Spinocerebellar Ataxia Type 13
Torticollis, Clumsiness, Bradykinesia, Limb ataxia, Myoclonus, Titubation, Gait ataxia ORPHA:98768
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Respiratory insufficiency, Arrhythmia, Atelectasis, Reduced left ventricular ejection fraction, A... ORPHA:258
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Hypotension, Shortened PR interval, Bradycardia, Cardiomyopathy, Congestive heart failure OMIM:261740
Spondylometaphyseal Dysplasia, X-Linked
Respiratory insufficiency, Respiratory failure OMIM:313420
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia, Respiratory failure, Respiratory insufficiency due to muscle weak... ORPHA:2590
Necrotizing Enterocolitis
Small for gestational age, Peritonitis, Hypotension, Shock, Bradycardia, Abnormal heart morphology ORPHA:391673
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrial arrhythmia, Sudden cardiac death, Palpitations, Absent P wave, Atrioventricular block, Fir... OMIM:310300
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Central sleep apnea, Hypertrophic cardiomyopathy, Respiratory failure, Congestive heart failure, ... ORPHA:70472
Chronic Beryllium Disease
Reduced FEV1/FVC ratio, Lymphocytic interstitial pneumonia, Respiratory insufficiency, Ground-gla... ORPHA:133
Hypothyroidism Due To Tsh Receptor Mutations
Decreased circulating T4 concentration, Increased radioactive iodine uptake, Impaired sensitivity... ORPHA:90673
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia... OMIM:157640
Pulmonary Alveolar Microlithiasis
Interlobular septal thickening, Oxygen desaturation on exertion, Pulmonary infiltrates, Nonproduc... ORPHA:60025
Pseudo-Torch Syndrome 2
Hepatomegaly, Secundum atrial septal defect, Cerebral hemorrhage, Elevated hepatic transaminase, ... OMIM:617397
Attrv122I Amyloidosis
Angina pectoris, Atrial arrhythmia, Aortic valve stenosis, Restrictive cardiomyopathy, Arrhythmia... ORPHA:85451
Primary Progressive Freezing Gait
Bradykinesia, Babinski sign, Rigidity, Frequent falls, Clonus, Postural tremor ORPHA:75567
Autosomal Recessive Spastic Paraplegia Type 77
Bradykinesia, Intention tremor, Myoclonus, Babinski sign, Weakness due to upper motor neuron dysf... ORPHA:466722
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Dif... ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Dif... ORPHA:276580
Proximal Spinal Muscular Atrophy
Recurrent aspiration pneumonia, Restrictive ventilatory defect, Hypoventilation, Neonatal respira... ORPHA:70
Illum Syndrome
Apnea, Bradycardia OMIM:208155
Hyperekplexia 4
Respiratory failure OMIM:618011
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Right atrial enlargement, Restrictive cardiomyopathy, Hypoplasia of the thymus, Endocardial fibro... OMIM:619313
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Respiratory failure, Central sleep apnea ORPHA:168486
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Premature ventricular contraction, Sudden cardiac death, Syncope, Prolonged Q... OMIM:612347
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory insufficiency, Respiratory failure ORPHA:370968
Sarcoidosis, Susceptibility To, 2
Bronchiectasis, Pulmonary infiltrates, Pneumothorax, Restrictive ventilatory defect, Emphysema, H... OMIM:612387
Postsynaptic Congenital Myasthenic Syndromes
Reduced vital capacity, Cyanosis, Orthopnea, Restrictive ventilatory defect, Exertional dyspnea, ... ORPHA:98913
Aspergillosis
Asthma, Pulmonary infiltrates, Sinusitis, Chronic pulmonary obstruction, Diffuse reticular or fin... ORPHA:1163
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pulmonary opa... ORPHA:411703
Parkinson Disease, Late-Onset
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor OMIM:168600
Ciliary Dyskinesia, Primary, 5
Respiratory insufficiency due to defective ciliary clearance, Chronic rhinitis, Recurrent sinusit... OMIM:608647
Neuroferritinopathy
Blepharospasm, Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Chorea, Involuntary mov... ORPHA:157846
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Tachycardia, Recurrent pneumonia, Atrial fibrillation, Prolonged QT interval, B... OMIM:613327
Perry Syndrome
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:168605
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary infiltrates, Interstitial pneumonitis, Chronic lung disease, Tachypnea, Spontaneous neo... ORPHA:217563
Anti-Glomerular Basement Membrane Disease
Respiratory insufficiency, Pulmonary infiltrates, Vasculitis, Cough ORPHA:375
Absence Of The Pulmonary Artery
Systolic heart murmur, Nonproductive cough, Cyanosis, Tachycardia, Orthopnea, Reduced left ventri... ORPHA:980
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Death in infancy, Aspiration, Bradycardia OMIM:610768
Neurodegeneration With Brain Iron Accumulation 2B
Hypertonia, Bradykinesia, Dysmetria, Intention tremor, Dysdiadochokinesis, Babinski sign, Chorea,... OMIM:610217
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Abnormal T-wave, Decreased circulating renin level, Neoplasm of the adrenal gland, Increased circ... ORPHA:231625
Immunodeficiency 54
Adrenal insufficiency, Respiratory insufficiency, Adrenocorticotropic hormone excess, Respiratory... OMIM:609981
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Sleep apnea, Left ventricular outflow tract obstruction, Respiratory insuff... ORPHA:365
Pulmonary Capillary Hemangiomatosis
Interlobular septal thickening, Hemothorax, Right ventricular failure, Cyanosis, Elevated pulmona... ORPHA:199241
Cardiomyopathy, Familial Hypertrophic, 12
Sudden cardiac death, Ventricular septal hypertrophy, Ventricular tachycardia, Paroxysmal atrial ... OMIM:612124
Mercury Poisoning
Respiratory distress, Interstitial pneumonitis, Tachycardia, Hypotension, Dyspnea, Hypertension, ... ORPHA:330021
Lujo Hemorrhagic Fever
Respiratory distress, Nonproductive cough, Crackles, Hypotension, Myocarditis, Shock, Atelectasis... ORPHA:319213
Parkinson Disease 1, Autosomal Dominant
Bradykinesia, Resting tremor, Myoclonus, Rigidity, Parkinsonism OMIM:168601
Andersen-Tawil Syndrome
Torsade de pointes, Abnormal T-wave, Premature ventricular contraction, Polymorphic ventricular t... ORPHA:37553
Adult-Onset Dystonia-Parkinsonism
Parkinsonism with favorable response to dopaminergic medication, Clumsiness, Bradykinesia, Myoclo... ORPHA:199351
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Atrioventricular canal defect, Conotruncal defect, Bradycardia ORPHA:40366
Acquired Methemoglobinemia
Respiratory distress, Palpitations, Tachycardia, Arrhythmia, Cyanosis, Syncope, Hypoxemia, Dyspnea ORPHA:464453
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Prolonged QTc interval, Syncope, V... OMIM:603830
Sheehan Syndrome
Adrenocorticotropic hormone deficiency, Central adrenal insufficiency, Reduced circulating prolac... ORPHA:91355
Ciliary Dyskinesia, Primary, 1
Chronic rhinitis, Atelectasis, Ciliary dyskinesia, Chronic sinusitis, Pneumonia, Bronchiectasis, ... OMIM:244400
Fragile X-Associated Tremor/Ataxia Syndrome
Ataxia, Bradykinesia, Dysmetria, Intention tremor, Parkinsonism, Rigidity, Hypothyroidism, Gait a... ORPHA:93256
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Mat... ORPHA:324575
Zygomycosis
Melena, Pulmonary infiltrates, Sinusitis, Hematemesis, Air crescent sign, Myocarditis, Hematochez... ORPHA:73263
Sepsis In Premature Infants
Cyanosis, Tachycardia, Abnormal respiratory system physiology, Hypotension, Abnormal mucociliary ... ORPHA:90051
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Pulmonary arterial hypertension, Bradycardia OMIM:619272
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Left ventricular outflow tract obstruction, Respiratory insufficiency, Hear... ORPHA:308552
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory insufficiency, Respiratory failure OMIM:615330
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Premature ventricular contraction, Sudden cardiac death, Syncope, Ventricular tachycardia, Ventri... OMIM:614916
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Left bundle branch block, Premature ventricular contraction, Presyncope, Palpitations, Ventricula... OMIM:618920
Short Qt Syndrome 1
Cardiac arrest, Palpitations, Sudden cardiac death, Syncope, Paroxysmal atrial fibrillation, Shor... OMIM:609620
Surfactant Metabolism Dysfunction, Pulmonary, 5
Interlobular septal thickening, Respiratory insufficiency, Ground-glass opacification, Dyspnea, E... OMIM:614370
Hyperinsulinism Due To Ucp2 Deficiency
Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Diffuse pancreatic is... ORPHA:276556
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure, Diabetes mellitus OMIM:613845
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Pulmonary infiltrates OMIM:607685
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Ventricul... ORPHA:300751
Autosomal Dominant Progressive External Ophthalmoplegia
Hypertonia, Ataxia, Bradykinesia, Hyperthyroidism, Resting tremor, Rigidity, Hypothyroidism, Trem... ORPHA:254892
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... OMIM:604145
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Apnea, Tachycardia, Retinal hemorrhage, Aspiration, Neonatal respiratory distress, Hypertension, ... OMIM:614653
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Tachycardia, Pancreatic islet-cell hyperplasia ORPHA:276608
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Increased pi... ORPHA:90674
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Tricuspid regurgitation, Mitral regurgitation, Respiratory insufficiency, Arr... ORPHA:746
Progressive Supranuclear Palsy
Blepharospasm, Tremor, Rigidity, Bradykinesia ORPHA:683
Neurodegeneration With Brain Iron Accumulation 1
Ataxia, Blepharospasm, Bradykinesia, Babinski sign, Abnormal pyramidal sign, Parkinsonism, Rigidi... OMIM:234200
Multiple System Atrophy 1, Susceptibility To
Ataxia, Bradykinesia, Babinski sign, Rigidity, Parkinsonism, Tremor OMIM:146500
Respiratory Underresponsiveness To Hypoxia And Hypercapnia
Respiratory insufficiency, Hypercapnia, Respiratory failure OMIM:267480
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Farber Disease
Respiratory distress, Diffuse reticular or finely nodular infiltrations, Nodular pattern on pulmo... ORPHA:333
Adams-Oliver Syndrome 5
Right atrial enlargement, Right ventricular hypertrophy, Pulmonic stenosis, Splenomegaly, Patent ... OMIM:616028
D-Glyceric Aciduria
Neonatal respiratory distress, Bradycardia OMIM:220120
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Respiratory insufficiency, Neonatal death OMIM:601612
Intermediate Nemaline Myopathy
Respiratory failure ORPHA:171433
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Glossopharyngeal Neuralgia
Syncope, Dysesthesia, Jaw claudication, Weight loss, Bradycardia ORPHA:221098
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Decreased DLCO, Ta... OMIM:300770
Alzheimer Disease 4
Dementia, Memory impairment, Cognitive impairment OMIM:606889
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Respiratory failure OMIM:616867
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Orthostatic hypotension, Syncope, Orthostatic syncope, Abnormal EKG, Dyspnea, R... ORPHA:230
Al Amyloidosis
Abnormal P wave, Jaw claudication, Nonproductive cough, Arrhythmia, Pulmonary interstitial high-r... ORPHA:85443
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG ORPHA:1177
Leigh Syndrome
Abnormal pattern of respiration, Respiratory insufficiency, Respiratory failure OMIM:256000
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Pseudohypoparathyroidism Type 2
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Prolonged QT interval ORPHA:94090
Lymphoid Interstitial Pneumonia
Pulmonary venous hypertension, Raynaud phenomenon, Crackles, Parenchymal consolidation, Ground-gl... ORPHA:79128
Hereditary Late-Onset Parkinson Disease
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting tremor, Ri... ORPHA:411602
Lymphangioleiomyomatosis
Pulmonary infiltrates, Chylothorax, Cough, Pneumothorax, Atelectasis, Restrictive ventilatory def... ORPHA:538
Hyperthyroidism, Familial Gestational
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism OMIM:603373
Alg1-Cdg
Respiratory failure, Cardiomyopathy ORPHA:79327
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Decreased re... ORPHA:226307
Mitochondrial Trifunctional Protein Deficiency
Respiratory insufficiency, Arrhythmia, Dilated cardiomyopathy, Respiratory failure, Congestive he... OMIM:609015
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Mitochondrial Complex I Deficiency, Nuclear Type 10
Central hypoventilation, Apnea, Respiratory failure OMIM:618233
Combined Oxidative Phosphorylation Deficiency 4
Respiratory failure, Death in infancy OMIM:610678
Young-Onset Parkinson Disease
Tremor, Rigidity, Spasticity, Bradykinesia ORPHA:2828
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Hepatomegaly, Jaundice, Small for gestational age, Tachycardia, Arrhythmia,... ORPHA:26793
Nephronophthisis 2
Pulmonary insufficiency, Respiratory insufficiency, Respiratory failure, Hypertension OMIM:602088
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Death in childhood, Respiratory insufficiency, Tachypnea, Atelectasis, Respiratory failure OMIM:618278
Triosephosphate Isomerase Deficiency
Respiratory distress, Respiratory insufficiency, Death in adolescence, Death in infancy, Respirat... OMIM:615512
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Death in childhood, Respiratory failure, Tachypnea OMIM:615838
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Sinus bradycardia, Patent ductus arteriosus OMIM:126320
Autosomal Dominant Hyper-Ige Syndrome
Atelectasis, Cough ORPHA:2314
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Ventilator dependence with inability to wean, Respiratory failure, Inspiratory stridor, Tachypnea OMIM:604320
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Abnormal left ventricular function, Right atrial enlargement, Abnormal T-wave, Rig... ORPHA:70591
Cardiomyopathy, Familial Hypertrophic, 17
Angina pectoris, Myocardial fibrosis, Left ventricular hypertrophy, Palpitations, Ventricular tac... OMIM:613873
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure ORPHA:75840
Leigh Syndrome With Cardiomyopathy
Respiratory distress, Apnea, Pulmonic stenosis, Mitral regurgitation, Central hypoventilation, Di... ORPHA:70474
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Respiratory insufficiency, Arrhythmia, Dilated cardiomyopathy, Death in infancy, Neonatal ... OMIM:608836
Nephronophthisis-Like Nephropathy 2