Gene: Atp1a2 MGI:88106

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
ATPase, Na+/K+ transporting, alpha 2 polypeptide
Synonyms:
Atpa-3

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Atp1a2 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 Atp1a2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Alternating Hemiplegia Of Childhood 1
Mental deterioration OMIM:104290
Alternating Hemiplegia Of Childhood
Tremor, Dystonia, Aggressive behavior, Chorea, Ataxia, Emotional lability, Impulsivity, Failure t... ORPHA:2131
Familial Or Sporadic Hemiplegic Migraine
Paresthesia, Progressive gait ataxia, Impaired temperature sensation, Dissociated sensory loss, E... ORPHA:569
Migraine, Familial Hemiplegic, 2
Episodic ataxia OMIM:602481

The table below shows human diseases predicted to be associated to Atp1a2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lithium Transport
Bipolar affective disorder OMIM:152420
Mental Retardation, Autosomal Recessive 25
Anxiety OMIM:614346
Major Affective Disorder 2
Bipolar affective disorder OMIM:309200
Panic Disorder 1
Anxiety OMIM:167870
Major Affective Disorder 1
Depression OMIM:125480
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Severe Primary Trimethylaminuria
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety ORPHA:468726
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Intellectual Developmental Disorder, X-Linked 63
Anxiety OMIM:300387
Mental Retardation, Autosomal Recessive 59
Aggressive behavior OMIM:617323
Advanced Sleep Phase Syndrome, Familial, 3
Depression OMIM:616882
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Depression, Emotional lability, Anxiety, Cognitive impai... ORPHA:280397
Early-Onset Schizophrenia
Low self esteem, Shyness, Depression, Abnormal emotion/affect behavior, Impairment in personality... ORPHA:96369
Schizophrenia 19
Cognitive impairment OMIM:617629
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Geniospasm 1
Anxiety OMIM:190100
Persistent Idiopathic Facial Pain
Anxiety, Depression ORPHA:398147
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Inability to walk, Tremor, Dyspnea, Fatiguable weakness of proximal limb muscles, Cough, Respirat... ORPHA:90117
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Developmental And Epileptic Encephalopathy 56
EEG abnormality, Anxiety OMIM:617665
Epilepsy, Nocturnal Frontal Lobe, 5
Cognitive impairment, Personality disorder, Aggressive behavior, Depression OMIM:615005
Mental Retardation, Autosomal Recessive 66
Gait ataxia, Shyness, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:618221
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Chorea, Benign Hereditary
Anxiety OMIM:118700
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Death in childhood, Central apnea, Respiratory insufficiency OMIM:611722
Wolfram-Like Syndrome, Autosomal Dominant
Anxiety, Depression OMIM:614296
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Aggressive behavior, Hyperactivity ORPHA:356996
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Myoclonus-Dystonia Syndrome
Personality disorder, Panic attack, Anxiety, Depression ORPHA:36899
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Pyknoachondrogenesis
Stillbirth OMIM:265880
Mental Retardation, Autosomal Dominant 52
Anxiety OMIM:617796
Pandas
Claustrophobia, Depression, Agoraphobia, Separation insecurity, Emotional lability, Impulsivity, ... ORPHA:66624
Dystonia 11, Myoclonic
Agoraphobia, Anxiety, Depression OMIM:159900
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Normal interictal EEG, Anxiety OMIM:602066
Macrocephaly, Acquired, With Impaired Intellectual Development
Anxiety, Aggressive behavior OMIM:618286
Sagliker Syndrome
Anxiety, Depression ORPHA:300493
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inertia, Dementia, Apathy, Frontotemporal dementia, Motor deterioration, Anxiety, Inappropriate b... ORPHA:412066
Creutzfeldt-Jakob Disease
Dementia, Depression, Apathy, Irritability, Anxiety, Memory impairment OMIM:123400
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, EEG abnormality, Hyperactivity ORPHA:436151
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory failure, Respiratory insufficiency OMIM:208081
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Depr... OMIM:619279
Mental Retardation, Autosomal Dominant 39
Aggressive behavior, Obesity OMIM:616521
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Tremor, Bipolar affective disorder, Aggressive behavior, Broad-based gait, Resting tremor, Obesit... ORPHA:3077
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Inability to walk, Abnormal respiratory system physiology, Reduced maximal inspiratory pressure, ... ORPHA:266
Childhood-Onset Benign Chorea With Striatal Involvement
Anxiety ORPHA:494541
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Respiratory failure OMIM:301021
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Depression, Anxiety, Inappropriate behavior, Cognitive impairment, Memory impairment ORPHA:401901
Childhood Disintegrative Disorder
Dementia, Abnormal emotion/affect behavior, Social and occupational deterioration, Motor deterior... ORPHA:168782
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Respiratory failure, Ataxia OMIM:618637
Huntington Disease-Like 2
Dystonia, Depression, Chorea, Apathy, Action tremor, Bradykinesia, Weight loss, Irritability, Anx... OMIM:606438
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Lethargy, Respiratory failure, Respiratory insufficiency OMIM:605711
Progressive Non-Fluent Aphasia
Depression, EEG with continuous slow activity, Frontotemporal dementia, Anxiety, Memory impairmen... ORPHA:100070
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Spinal Muscular Atrophy, Type I
Respiratory failure, Respiratory insufficiency OMIM:253300
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Respiratory failure, Ataxia, Respiratory insufficiency OMIM:610127
Congenital Arthrogryposis With Anterior Horn Cell Disease
Inability to walk, Dystonia, Difficulty walking, Respiratory insufficiency due to muscle weakness... OMIM:611890
Basal Ganglia Calcification, Idiopathic, 5
Dementia, Depression, Apathy, Anxiety, Cognitive impairment OMIM:615483
3-Methylglutaconic Aciduria, Type Viii
Apnea, Dystonia, Tremor, Death in infancy, Respiratory failure OMIM:617248
Dopa-Responsive Dystonia
Inability to walk, Tremor, Dystonia, Lethargy, Depression, Difficulty walking, Abnormal social be... ORPHA:255
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Restrictive ventilatory defect, Respiratory failure, Respiratory distress, Respiratory insufficiency OMIM:614399
Spinocerebellar Ataxia Type 1
Dysdiadochokinesis, Postural tremor, Dystonia, Abnormal nerve conduction velocity, Gait disturban... ORPHA:98755
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory failure, Respiratory insufficiency OMIM:613869
Huntington Disease-Like 1
Anxiety, Aggressive behavior, Dementia, Depression OMIM:603218
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Impaired social interactions, No social interaction, Aggressive behavior, Obesity ORPHA:329249
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Inability to walk, Tremor, Difficulty walking, Respiratory insufficiency due to muscle weakness, ... ORPHA:2590
Epilepsy, Progressive Myoclonic, 12
Mental deterioration, Anxiety, Depression OMIM:619191
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Respiratory insufficiency OMIM:616081
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Lethargy, Death in infancy, Ataxia, Respiratory insufficiency, Respiratory failure OMIM:614299
Arthrogryposis Multiplex Congenita 6
Akinesia, Death in infancy, Neonatal death, Respiratory failure, Death in childhood OMIM:619334
Parkinson Disease 6, Autosomal Recessive Early-Onset
Anxiety, Dementia, Depression OMIM:605909
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Inappropriate laughter, Ataxia, Obesity, EEG abnormality, Hyperactivity, Broad-based gait, Happy ... ORPHA:411515
Hyperekplexia 4
Respiratory failure, Hypsarrhythmia OMIM:618011
Nemaline Myopathy 8
Respiratory failure, Death in infancy OMIM:615348
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy OMIM:225753
Congenital Muscular Dystrophy With Intellectual Disability
Loss of ability to walk, Respiratory failure, Fatigable weakness of skeletal muscles, Respiratory... ORPHA:370968
Mental Retardation With Language Impairment And With Or Without Autistic Features
Aggressive behavior, Self-injurious behavior, Failure to thrive in infancy, Anxiety, Attention de... OMIM:613670
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Difficulty walking, Ventilator dependence with inability to wean, Respirato... ORPHA:254875
Congenital Neuronal Ceroid Lipofuscinosis
Apnea, Central sleep apnea, EEG with burst suppression, Neonatal respiratory distress, Respirator... ORPHA:168486
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Dyspnea, Respiratory distress ORPHA:1832
Dystonia 12
Emotional lability, Anxiety, Depression OMIM:128235
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Lethargy, Death in infancy, Aminoaciduria OMIM:619386
Rabies
Anxiety, Depression ORPHA:770
Feingold Syndrome Type 2
Anxiety, Emotional lability ORPHA:391646
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Respiratory failure, Respiratory insufficiency OMIM:228940
Postsynaptic Congenital Myasthenic Syndromes
Restrictive ventilatory defect, Fatigable weakness of respiratory muscles, Exertional dyspnea, Or... ORPHA:98913
Rafiq Syndrome
Aggressive behavior, Obesity OMIM:614202
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Suicidal ideation, Aggressive behavior, Abnormal fear/anxiety-related behavior ORPHA:208441
Adiposis Dolorosa
Anxiety, Depression OMIM:103200
Raynaud-Claes Syndrome
Anxiety, Bipolar affective disorder, Aggressive behavior, Depression OMIM:300114
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:618291
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Aspiration pneumonia, Respiratory failure OMIM:619057
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Dystonia 26, Myoclonic
Anxiety, Depression OMIM:616398
Autism, Susceptibility To, 18
Overweight, Anxiety, Tall stature OMIM:615032
Asbestos Intoxication
Restrictive ventilatory defect, Wheezing, Dyspnea, Late inspiratory crackles, Exertional dyspnea,... ORPHA:2302
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Respiratory insufficiency, Neonatal respiratory distress, Neonatal death, Death... OMIM:245400
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Anxiety, Attention deficit hyperactivity disorder, Obesity OMIM:618725
Mitochondrial Complex I Deficiency, Nuclear Type 10
Apnea, Central hypoventilation, Ataxia, Respiratory failure, Dysmetria OMIM:618233
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Ataxia, Respiratory failure, Limb dystonia, Hyperactivity ORPHA:363400
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Migraine, Familial Hemiplegic, 1
Anxiety OMIM:141500
Pneumocystosis
Dyspnea, Interstitial pneumonitis, Exertional dyspnea, Pleural effusion, Nonproductive cough, Res... ORPHA:723
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
11P15.4 Microduplication Syndrome
Aggressive behavior, Obesity ORPHA:300305
Gm2 Gangliosidosis, Ab Variant
Dystonia, Chorea, Exaggerated startle response, Anxiety, Abnormal fear/anxiety-related behavior, ... ORPHA:309246
Hsd10 Disease
Tremor, Abnormal social behavior, Gait disturbance, Ataxia, Abnormal urinary acylglycine profile,... ORPHA:391417
Staphylococcal Necrotizing Pneumonia
Lethargy, Dyspnea, Respiratory distress, Pleural effusion, Cough, Nonproductive cough, Acute infe... ORPHA:36238
Interstitial Pneumonitis, Desquamative, Familial
Tachypnea, Cough, Respiratory failure, Respiratory distress OMIM:263000
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Dyspnea, Death in infancy, Neonatal respiratory distress, Neonatal death, Respiratory fail... OMIM:265120
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Mehmo Syndrome
Inability to walk, Gait ataxia, Aggressive behavior, Difficulty walking, Small for gestational ag... OMIM:300148
Leigh Syndrome
Dystonia, Ataxia, Respiratory insufficiency, Respiratory failure, Abnormal pattern of respiration OMIM:256000
O'Donnell-Luria-Rodan Syndrome
Anxiety, Self-injurious behavior, Skin-picking, Aggressive behavior OMIM:618512
Amyotrophic Lateral Sclerosis
Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Dyspnea, Abn... ORPHA:803
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Inability to walk, Dystonia, Ataxia, Obesity, Waddling gait, Broad-based gait OMIM:616756
Female Restricted Epilepsy With Intellectual Disability
Aggressive behavior, Abnormal social behavior, Impulsivity, Anxiety, Hyperactivity ORPHA:101039
Motor Neuron Disease With Dementia And Ophthalmoplegia
Respiratory failure, Respiratory insufficiency OMIM:600333
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Gait disturbance, Lethargy, Respiratory failure, Ataxia OMIM:615838
Surfactant Metabolism Dysfunction, Pulmonary, 3
Apnea, Dyspnea, Respiratory distress, Exertional dyspnea, Cough, Death in infancy, Neonatal respi... OMIM:610921
Stiff Person Spectrum Disorder
Difficulty walking, Agoraphobia, Emotional lability, Exaggerated startle response, Falls, Anxiety ORPHA:3198
Intermediate Nemaline Myopathy
Difficulty walking, Respiratory failure ORPHA:171433
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Tremor, Gait ataxia, Ataxia, Respiratory failure, Dysmetria, Intention tremor, Steppage gait OMIM:616505
Rapid-Onset Dystonia-Parkinsonism
Emotional lability, Anxiety, Depression ORPHA:71517
Phenylketonuria
Self-mutilation, Aggressive behavior, Depression, Irritability, Anxiety OMIM:261600
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Ventilator dependence with inability to wean, Inspiratory stridor, Respiratory failure, Decreased... OMIM:604320
Chung-Jansen Syndrome
Aggressive behavior, Impulsivity, Anxiety, Attention deficit hyperactivity disorder, Obesity OMIM:617991
Mental Retardation, Autosomal Dominant 43
Impulsivity, Anxiety OMIM:616977
11Q22.2Q22.3 Microdeletion Syndrome
Poor eye contact, Abnormal social behavior, Anxiety, Attention deficit hyperactivity disorder, Ob... ORPHA:444002
Clark-Baraitser Syndrome
Obesity, Aggressive behavior, Hyperactivity OMIM:617752
Hereditary Motor And Sensory Neuropathy, Type Iic
Intercostal muscle weakness, Respiratory failure, Stridor, Obstructive sleep apnea, Decreased dis... OMIM:606071
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Tremor, Respiratory failure, Death in infancy, Ataxia OMIM:617186
Acute Interstitial Pneumonia
Dyspnea, Bronchiectasis, Pleural effusion, Elevated circulating creatinine concentration, Nonprod... ORPHA:79126
Surfactant Metabolism Dysfunction, Pulmonary, 2
Spontaneous pneumothorax, Dyspnea, Respiratory distress, Bronchiectasis, Interstitial pneumonitis... OMIM:610913
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Depression, Interictal epileptiform activity, Anxiety, Cognitive impairment, EEG with focal spike... ORPHA:98784
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory failure, Respiratory insufficiency OMIM:615330
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Anxiety OMIM:618970
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Absent brainstem auditory responses, Respiratory failure, Head titubation ORPHA:3240
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Difficulty walking, Respiratory failure, Reduced vital capacity, Nocturnal hypoventilation OMIM:603689
Hernández-Aguirre Negrete Syndrome
EEG abnormality, Obesity ORPHA:2139
Spinocerebellar Ataxia 12
Anxiety, Depression OMIM:604326
Idiopathic Intracranial Hypertension
Abnormal emotion/affect behavior, Obesity, Lethargy, Depression ORPHA:238624
Mercury Poisoning
Dystonia, Tremor, Dyspnea, Respiratory distress, Interstitial pneumonitis, Respiratory failure ORPHA:330021
Vacterl Association With Hydrocephalus
Respiratory failure, Stillbirth, Respiratory insufficiency OMIM:276950
Combined Oxidative Phosphorylation Deficiency 4
Opisthotonus, Respiratory failure, Death in infancy OMIM:610678
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Tremor, Inappropriate laughter, Ataxia, Obesity, EEG abnormality, EEG with abnormally slow freque... ORPHA:98794
Smith-Magenis Syndrome
Self-mutilation, Impaired pain sensation, Head-banging, EEG abnormality, Increased body weight, H... OMIM:182290
Pelizaeus-Merzbacher Disease, Connatal Form
Inability to walk, Difficulty walking, Ataxia, Respiratory failure, Titubation, Dystonic gait ORPHA:280210
Intellectual Developmental Disorder With Neuropsychiatric Features
Anxiety OMIM:617532
Infant Acute Respiratory Distress Syndrome
Pneumonia, Atelectasis, Nasal flaring, Respiratory failure, Tachypnea, Hypoxemia ORPHA:70587
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Respiratory failure ORPHA:75840
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Aggressive behavior OMIM:300558
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Muscular Dystrophy, Duchenne Type
Respiratory failure, Waddling gait, Respiratory insufficiency, Hypoventilation OMIM:310200
Combined Oxidative Phosphorylation Deficiency 37
Respiratory failure, Respiratory insufficiency OMIM:618329
Rolandic Epilepsy
Depression, Anxiety, Emotional lability ORPHA:1945
Acute Lung Injury
Dyspnea, Respiratory distress, Pneumonia, Respiratory failure, Tachypnea, Hypoxemia ORPHA:178320
Insulinoma
Tremor, Lethargy, Paresthesia, Abnormality of pain sensation, Anxiety, Increased body weight ORPHA:97279
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dyspnea, Respiratory failure, Respiratory insufficiency due to muscle weakness ORPHA:352447
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Self-mutilation, Tremor, Overweight, Depression, Gait disturbance, Anxiety ORPHA:457240
Childhood Absence Epilepsy
Low self esteem, Depression, Abnormal social behavior, Anxiety, EEG with spike-wave complexes (2.... ORPHA:64280
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy, Blepharospasm, Emotional lability, Limb tremor, Exaggerated startle response, Torticoll... OMIM:608643
Respiratory Underresponsiveness To Hypoxia And Hypercapnia
Hypercapnia, Respiratory failure, Respiratory insufficiency OMIM:267480
Angelman Syndrome Due To A Point Mutation
Inappropriate laughter, Ataxia, Obesity, EEG abnormality, Happy demeanor, Gait imbalance, Broad-b... ORPHA:411511
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Bronchiectasis, Recurrent sinusitis, Pneumonia, Respiratory insuff... OMIM:618695
Spinocerebellar Ataxia 48
Irritability, Anxiety, Depression OMIM:618093
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Avian Influenza
Dyspnea, Respiratory distress, Pleural effusion, Cough, Nonproductive cough, Pneumonia, Productiv... ORPHA:454836
Lethal Congenital Contracture Syndrome 2
Respiratory failure, Akinesia OMIM:607598
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Respiratory failure OMIM:616867
Coproporphyria, Hereditary
Anxiety, Depression OMIM:121300
Myopathy, Centronuclear, X-Linked
Neonatal respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory fa... OMIM:310400
Chromosome 2Q37 Deletion Syndrome
Aggressive behavior, Pain insensitivity, Self-injurious behavior, Hyperactivity, Obesity OMIM:600430
Sandestig-Stefanova Syndrome
Respiratory failure, EEG abnormality OMIM:618804
Trisomy X
Anxiety, Depression ORPHA:3375
Adult Acute Respiratory Distress Syndrome
Dyspnea, Pneumonia, Respiratory failure, Abnormal blood gas level, Hypoxemia ORPHA:70578
Choreoacanthocytosis
Disinhibition, Aggressive behavior, Self-mutilation of tongue and lips due to involuntary movemen... OMIM:200150
Immunodeficiency 54
Respiratory failure, Respiratory insufficiency OMIM:609981
Perry Syndrome
Disinhibition, Depression, Apathy, Anxiety, Inappropriate behavior, Suicidal ideation OMIM:168605
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Dyspnea, Respiratory failure, Respiratory distress ORPHA:2759
Proximal Spinal Muscular Atrophy
Inability to walk, Restrictive ventilatory defect, Hypoventilation, Difficulty walking, Respirato... ORPHA:70
Scedosporiosis
Decreased pulmonary function, Cough, Bronchial breath sound, Pneumonia, Pleural empyema, Respirat... ORPHA:449280
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tremor, Lethargy, Increased body weight ORPHA:276608
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Respiratory insufficiency OMIM:273730
Ataxia-Oculomotor Apraxia Type 4
Somatic sensory dysfunction, Dystonia, Ataxia, Obesity ORPHA:459033
Nephronophthisis 2
Elevated circulating creatinine concentration, Respiratory failure, Respiratory insufficiency OMIM:602088
Huntington Disease
Disinhibition, Aggressive behavior, Depression, Apathy, Irritability, Anxiety, Hostility, Suicida... ORPHA:399
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Impaired social interactions, Shyness, Aggressive behavior, Depression, Poor eye contact, Self-in... ORPHA:449291
Combined Oxidative Phosphorylation Deficiency 3
Dystonia, Tremor, Ataxia, Respiratory insufficiency, Death in childhood, Respiratory failure OMIM:610505
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Ataxia ORPHA:1861
Brain-Lung-Thyroid Syndrome
Recurrent pneumonia, Dystonia, Respiratory distress, Pulmonary arterial hypertension, Ataxia, Neo... ORPHA:209905
Multiple Acyl-Coa Dehydrogenase Deficiency
Inability to walk, Restrictive ventilatory defect, Dyspnea, Cardiorespiratory arrest, Respiratory... ORPHA:26791
Posterior Cortical Atrophy
Inertia, Anxiety ORPHA:54247
Gm2-Gangliosidosis, Ab Variant
Dystonia, Chorea, Exaggerated startle response, Apathy OMIM:272750
Wolfram-Like Syndrome
Anxiety, Depression ORPHA:411590
Obesity, Hyperphagia, And Developmental Delay
Poor eye contact, Obesity OMIM:613886
Poliomyelitis
Inability to walk, Fatigable weakness of respiratory muscles, Abnormal motor nerve conduction vel... ORPHA:2912
Usher Syndrome Type 3
Anxiety, Depression ORPHA:231183
Wilson Disease
Aggressive behavior, Depression, Hypersexuality, Difficulty walking, Weight loss, Increased body ... ORPHA:905
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Gait disturbance, Action tremor, Unsteady gait, Dysmetria, Obesity ORPHA:93952
Metachromatic Leukodystrophy, Juvenile Form
Dystonia, Progressive gait ataxia, Decreased nerve conduction velocity, Abnormal social behavior,... ORPHA:309263
Metachromatic Leukodystrophy, Late Infantile Form
Dystonia, Gait ataxia, Progressive gait ataxia, Abnormal social behavior, Toe walking, Emotional ... ORPHA:309256
Landau-Kleffner Syndrome
Aggressive behavior, Depression, Emotional lability, Impulsivity, Anxiety ORPHA:98818
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight, Aggressive behavior OMIM:300860
Glucocorticoid Resistance, Generalized
Anxiety OMIM:615962
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Respiratory failure, Death in infancy ORPHA:1194
Usher Syndrome Type 1
Anxiety, Depression ORPHA:231169
Angelman Syndrome
Inability to walk, Tremor, Inappropriate laughter, Aggressive behavior, Poor eye contact, Self-in... ORPHA:72
Succinic Semialdehyde Dehydrogenase Deficiency
Anxiety, Self-injurious behavior, Aggressive behavior OMIM:271980
13Q12.3 Microdeletion Syndrome
Self-mutilation, Impaired pain sensation, Failure to thrive, Hyperactivity, Obesity ORPHA:412035
Metachromatic Leukodystrophy, Adult Form
Dystonia, Depression, Progressive gait ataxia, Chorea, Decreased nerve conduction velocity, Diffi... ORPHA:309271
48,Xxxy Syndrome
Tremor, Abnormal social behavior, Tall stature, Obesity, Irritability, Anxiety, Attention deficit... ORPHA:96263
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Aggressive behavior, Ataxia, Tall stature, Anxiety, Hyperactivity, Obesity OMIM:618430
Primary Ciliary Dyskinesia
Wheezing, Bronchiectasis, Productive cough, Atelectasis, Neonatal respiratory distress, Respirato... ORPHA:244
Kosaki Overgrowth Syndrome
Anxiety, Depression OMIM:616592
Peripartum Cardiomyopathy
Dyspnea, Exertional dyspnea, Orthopnea, Crackles, Respiratory failure, Asthma, Paroxysmal dyspnea... ORPHA:563
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Anxiety, Depression OMIM:613077
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
Car T Cell Therapy-Associated Cytokine Release Syndrome
Pleural effusion, Elevated circulating creatinine concentration, Respiratory failure, Tachypnea, ... ORPHA:542323
Distal 7Q11.23 Microduplication Syndrome
Anxiety ORPHA:261102
Stiff-Person Syndrome
Depression, Agoraphobia, Opisthotonus, Exaggerated startle response, Anxiety OMIM:184850
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Respiratory distress, Opisthotonus, Respiratory f... ORPHA:206436
Central Precocious Puberty
Overgrowth, Increased body weight, Obesity ORPHA:759
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Increased body weight, Broad-based gait OMIM:614450
Luscan-Lumish Syndrome
Shyness, Aggressive behavior, Overgrowth, Anxiety, Obesity OMIM:616831
Choreoacanthocytosis
Hair-pulling, Head titubation, Weight loss, Emotional lability, Head-banging, Progressive inabili... ORPHA:2388
Mitochondrial Trifunctional Protein Deficiency
Lethargy, Respiratory failure, Respiratory insufficiency OMIM:609015
Dyskinesia, Familial, With Facial Myokymia
Anxiety OMIM:606703
Snakebite Envenomation
Respiratory failure, Epistaxis, Respiratory paralysis ORPHA:449285
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Respiratory failure, Paroxysmal dyspnea ORPHA:444013
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Lethargy, Respiratory distress, Respiratory insufficiency, Respiratory failure OMIM:608836
Leigh Syndrome With Cardiomyopathy
Apnea, Dystonia, Respiratory distress, Central hypoventilation, Ataxia, Respiratory failure ORPHA:70474
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Respiratory distress OMIM:617895
Burning Mouth Syndrome
Emotional lability, Anxiety, Depression ORPHA:353253
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure, Death in infancy OMIM:614862
Mitochondrial Trifunctional Protein Deficiency
Respiratory failure, Lethargy, Toe walking, Respiratory insufficiency ORPHA:746
Abcd Syndrome
Large for gestational age, Abnormal auditory evoked potentials OMIM:600501
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:613845
Angelman Syndrome
Progressive gait ataxia, Obesity, Limb tremor, Paroxysmal bursts of laughter, EEG abnormality, Hy... OMIM:105830
Cryptosporidiosis
Wheezing, Respiratory distress, Cough, Respiratory failure, Hypoxemia ORPHA:1549
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Ataxia, Exaggerated startle response, Anxiety, Broad-based gait ORPHA:438216
Glycogen Storage Disease Due To Acid Maltase Deficiency
Inability to walk, Fatigable weakness of respiratory muscles, Sleep apnea, Fatigable weakness of ... ORPHA:365
Oculocerebrofacial Syndrome, Kaufman Type
Dyspnea, Respiratory failure, Respiratory distress ORPHA:2707
Niemann-Pick Disease, Type C2
Dystonia, Respiratory failure, Ataxia, Respiratory insufficiency OMIM:607625
Leptin Receptor Deficiency
Aggressive behavior, Obesity OMIM:614963
Porphyria Due To Ala Dehydratase Deficiency
Apathy, Anxiety, Abnormal fear/anxiety-related behavior, Depression ORPHA:100924
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Anxiety, Aggressive behavior, Depression OMIM:615157
Leigh Syndrome
Dystonia, Hypsarrhythmia, Generalized aminoaciduria, Ataxia, Respiratory failure, Abnormal patter... ORPHA:506
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures
Anxiety OMIM:619264
Osteopetrosis, Autosomal Recessive 5
Respiratory failure, Stillbirth OMIM:259720
Mcleod Syndrome
Personality disorder, Anxiety, Depression OMIM:300842
Congenital Multicore Myopathy With External Ophthalmoplegia
Respiratory failure, Pneumonia, Abnormal respiratory system physiology ORPHA:98905
Pigmented Nodular Adrenocortical Disease, Primary, 4
Depression, Increased body weight, Emotional lability OMIM:615830
Central Diabetes Insipidus
Anxiety, Depression ORPHA:178029
Glycine Encephalopathy With Normal Serum Glycine
Apnea, Exaggerated startle response, Respiratory failure OMIM:617301
X-Linked Intellectual Disability, Cabezas Type
Tremor, Aggressive behavior, Obesity, EEG abnormality, Cachexia, Hyperactivity, Broad-based gait ORPHA:85293
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Inability to walk, Hypoventilation, Respiratory insufficiency, Atelectasis, Intercostal muscle we... ORPHA:258
Adiposis Dolorosa
Anxiety, Obesity, Paresthesia, Depression ORPHA:36397
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure ORPHA:3226
Mal De Débarquement
Anxiety ORPHA:210272
Tay-Sachs Disease
Apathy, Exaggerated startle response OMIM:272800
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Dystonia, Respiratory failure requiring assisted ventilation, Ataxia, Respiratory failure, Recurr... ORPHA:496641
Parkinson Disease 7, Autosomal Recessive Early-Onset
Anxiety OMIM:606324
Congenital Heart Defects, Multiple Types, 7
Anxiety, Depression OMIM:618780
3-Methylglutaconic Aciduria Type 7
Opisthotonus, Respiratory failure, Pneumothorax ORPHA:445038
Riddle Syndrome
Chronic sinusitis, Restrictive ventilatory defect, Gait disturbance, Recurrent sinusitis, Pneumon... ORPHA:420741
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... ORPHA:308552
Boutonneuse Fever
Respiratory failure ORPHA:83313
Lamb-Shaffer Syndrome
Abnormal social behavior, Ataxia, Hyperactivity ORPHA:530983
Tay-Sachs Disease
Inability to walk, Tremor, Dystonia, Depression, Gait disturbance, Laryngeal dystonia, Exaggerate... ORPHA:845
Severe Congenital Nemaline Myopathy
Respiratory failure ORPHA:171430
Niemann-Pick Disease Type C
Tremor, Bipolar affective disorder, Disinhibition, Aggressive behavior, Dystonia, Depression, Pro... ORPHA:646
Radio-Renal Syndrome
Dyspnea, Respiratory distress, Pleural effusion, Respiratory failure, Chylothorax ORPHA:3015
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Difficulty walking, Exaggerated startle response, Impaired vibration sensation in the lower limbs ORPHA:320406
Geleophysic Dysplasia 3
Dyspnea, Sleep apnea, Respiratory failure, Pneumonia OMIM:617809
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Pigmented Nodular Adrenocortical Disease, Primary, 2
Depression, Anxiety, Emotional lability OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Depression, Anxiety, Emotional lability OMIM:610489
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Aggressive behavior, Abnormal social behavior, Ataxia, Unsteady gait, Dysmetria, Intention tremor... ORPHA:314647
Congenital Tricuspid Valve Dysplasia
Tachypnea, Hypoxemia, Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:555874
Mitochondrial Complex I Deficiency, Nuclear Type 1
Lethargy, Respiratory failure, Ataxia, Respiratory insufficiency OMIM:252010
1P21.3 Microdeletion Syndrome
Self-mutilation, Shyness, Aggressive behavior, Self-injurious behavior, Obesity ORPHA:293948
Congenital Fiber-Type Disproportion Myopathy
Fatigable weakness of bulbar muscles, Hypercapnia, Respiratory insufficiency due to muscle weakne... ORPHA:2020
Distal Xq28 Microduplication Syndrome
Aggressive behavior, Depression, Impulsivity, Anxiety, Self-biting ORPHA:293939
Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Tremor, Lethargy, Increased body weight ORPHA:263455
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Anxiety OMIM:618906
Young-Onset Parkinson Disease
Depression, Apathy, Panic attack, Impulsivity, Anxiety ORPHA:2828
Renal Dysplasia-Limb Defects Syndrome
Neonatal death, Respiratory failure, Respiratory distress, Pneumothorax OMIM:266910
Alternating Hemiplegia Of Childhood 1
Mental deterioration OMIM:104290
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior, Disinhibition, Ataxia ORPHA:1020
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Adrenocortical Carcinoma
Weight loss, Panic attack, Irritability, Increased body weight, Anxiety ORPHA:1501
Autosomal Recessive Spastic Paraplegia Type 11
Inability to walk, Overweight, Gait disturbance, Ataxia, Emotional lability, Obesity ORPHA:2822
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased body weight, Depression OMIM:615954
Otopalatodigital Syndrome, Type Ii
Respiratory failure, Stillbirth, Respiratory insufficiency OMIM:304120
Magel2-Related Prader-Willi-Like Syndrome
Skin-picking, Lethargy, Impaired temperature sensation, Impulsivity, Increased body weight, Failu... ORPHA:398069
Acth-Independent Macronodular Adrenal Hyperplasia
Depression, Anxiety, Emotional lability OMIM:219080
Abetalipoproteinemia
Gait ataxia, Ataxia, Respiratory failure, Dysmetria, Steppage gait, Broad-based gait ORPHA:14
S-Adenosylhomocysteine Hydrolase Deficiency
Respiratory failure ORPHA:88618
Asparagine Synthetase Deficiency
Exaggerated startle response, Failure to thrive, Hypsarrhythmia OMIM:615574
Dihydropyrimidine Dehydrogenase Deficiency
Inability to walk, Abnormal social behavior, Multifocal epileptiform discharges, Irritability, EE... ORPHA:1675
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Failure to thrive OMIM:618201
Arterial Tortuosity Syndrome
Dyspnea, Respiratory failure, Cardiorespiratory arrest, Respiratory distress ORPHA:3342
Non-Syndromic Posterior Hypospadias
Anxiety, Depression ORPHA:95706
Nocardiosis
Dyspnea, Respiratory distress, Pleural effusion, Emphysema, Nonproductive cough, Pneumonia, Produ... ORPHA:31204
Autoimmune Hypoparathyroidism
Irritability, Anxiety, Depression ORPHA:36913
Steinert Myotonic Dystrophy
Inability to walk, Fatigable weakness of bulbar muscles, Gait disturbance, Respiratory failure re... ORPHA:273
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure OMIM:616538
Trichotillomania
Hair-pulling OMIM:613229
Pituitary Adenoma 4, Acth-Secreting
Obesity, Abdominal obesity, Abnormal fear/anxiety-related behavior, Emotional lability OMIM:219090
Malignant Atrophic Papulosis
Pleural effusion, Respiratory failure ORPHA:679
Prader-Willi Syndrome Due To Translocation
Impaired social interactions, Skin-picking, Abnormal social behavior, Head-banging, Obesity, Anxi... ORPHA:177907
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Irritability, Hyperactivity, Hypsarrhythmia ORPHA:447997
Autoerythrocyte Sensitization Syndrome
Depression, Self-injurious behavior, Borderline personality disorder, Emotional lability, Anxiety ORPHA:324636
Listeriosis
Tremor, Respiratory distress, Pneumonia, Ataxia, Respiratory failure ORPHA:533
Resistance To Thyrotropin-Releasing Hormone Syndrome
Lethargy, Overweight, Depression ORPHA:99832
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Respiratory failure ORPHA:254528
Mend Syndrome
Aggressive behavior, Abnormal social behavior, Abnormal auditory evoked potentials, Failure to th... ORPHA:401973
Nijmegen Breakage Syndrome
Respiratory failure, Attention deficit hyperactivity disorder, Recurrent pneumonia ORPHA:647
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Lethal Acantholytic Erosive Disorder
Respiratory failure ORPHA:158687
Short Rib-Polydactyly Syndrome
Respiratory failure ORPHA:1505
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Bloom Syndrome
Chronic pulmonary obstruction, Respiratory failure, Pneumonia, Rhinitis ORPHA:125
Sandhoff Disease
Exaggerated startle response, Impaired temperature sensation, Ataxia OMIM:268800
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Exaggerated startle response, Failure to thrive, Hypsarrhythmia ORPHA:521426
Myhre Syndrome
Respiratory failure, Ataxia, Respiratory insufficiency OMIM:139210
Tuberous Sclerosis Complex
Respiratory failure, Respiratory distress, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:805
Ear-Patella-Short Stature Syndrome
Dyspnea, Respiratory failure, Respiratory distress ORPHA:2554
Fg Syndrome Type 1
Slender build, Abnormal social behavior, Attention deficit hyperactivity disorder, Broad-based gait ORPHA:93932
Severe Generalized Junctional Epidermolysis Bullosa
Dyspnea, Respiratory distress, Pneumonia, Respiratory failure, Stridor, Pneumothorax ORPHA:79404
Porphyria, Acute Intermittent
Anxiety, Depression OMIM:176000
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Impaired social interactions, Aggressive behavior, Self-injurious behavior, Agoraphobia, Emotiona... ORPHA:353281
Koolen-De Vries Syndrome Due To A Point Mutation
Slender build, Overfriendliness, Inappropriate laughter, EEG with focal epileptiform discharges, ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Slender build, Overfriendliness, Inappropriate laughter, EEG with focal epileptiform discharges, ... ORPHA:363958
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Costello Syndrome
Tracheomalacia, Respiratory insufficiency, Respiratory failure, Obstructive sleep apnea, Pneumoth... OMIM:218040
Microphthalmia With Linear Skin Defects Syndrome
Dyspnea, Respiratory failure, Respiratory distress ORPHA:2556
Monosomy 22Q13.3
Hair-pulling, Obesity, Hyperactivity, Impaired pain sensation ORPHA:48652
Autosomal Recessive Polycystic Kidney Disease
Spontaneous pneumothorax, Hypoventilation, Respiratory failure, Recurrent pneumonia ORPHA:731
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Pulmonary arterial hypertension, Restrictive ventilatory defect, Respiratory failure ORPHA:96334
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Dyspnea, Respiratory failure ORPHA:2636
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Failure to thrive OMIM:617527
Alternating Hemiplegia Of Childhood
Tremor, Dystonia, Aggressive behavior, Chorea, Ataxia, Emotional lability, Impulsivity, Failure t... ORPHA:2131
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Increased body weight, Failure to thrive ORPHA:264580
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Emphysema, Respiratory failure ORPHA:500150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Ulbright-Hodes Syndrome
Respiratory failure, Respiratory distress, Pneumothorax ORPHA:3404
Insulin-Resistance Syndrome Type B
Decreased body weight, Abnormality of body weight, Increased body weight, Weight loss ORPHA:2298
Familial Or Sporadic Hemiplegic Migraine
Paresthesia, Progressive gait ataxia, Impaired temperature sensation, Dissociated sensory loss, E... ORPHA:569
Williams Syndrome
Overfriendliness, Tremor, Depression, Abnormal social behavior, Gait disturbance, Ataxia, Failure... ORPHA:904
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aggressive behavior, Self-injurious behavior, Agoraphobia, Emotional lability, Panic attack, Impu... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aggressive behavior, Self-injurious behavior, Agoraphobia, Emotional lability, Panic attack, Impu... ORPHA:353277
Hellp Syndrome
Increased body weight ORPHA:244242
Rubinstein-Taybi Syndrome 1
Self-mutilation, Impulsivity, Agoraphobia, Abnormal fear/anxiety-related behavior OMIM:180849
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Dystonia, Inability to walk, Exaggerated startle response, Broad-based gait ORPHA:438213
Migraine, Familial Hemiplegic, 2
Episodic ataxia OMIM:602481

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Atp1a2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Atp1a2.

No publications found that use IMPC mice or data for Atp1a2.

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MGI Allele Allele Type Produced
Atp1a2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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