Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
GIT ArfGAP 1
Synonyms:
p95Cat,  Cat-1

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 Git1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Git1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Emotional lability, Ob... ORPHA:66624
Surfactant Metabolism Dysfunction, Pulmonary, 1
Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Int... OMIM:265120
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Neonatal death, Tachypnea, Paraseptal emphysema, Reticular pattern on pulmo... OMIM:610921
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Large for gestational age, Aggressive behavior, Hyperactivity ORPHA:356996
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia, Death in infancy OMIM:254120
Infant Acute Respiratory Distress Syndrome
Pneumonia, Hypotension, Atelectasis, Respiratory tract infection, Cyanosis, Pulmonary edema, Card... ORPHA:70587
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Interstitial Pneumonitis, Desquamative, Familial
Recurrent upper respiratory tract infections, Respiratory distress, Cyanosis, Type II pneumocyte ... OMIM:263000
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hypsarrhythmia, Hyperactivity, Ataxia, Impulsivity OMIM:617113
Asbestos Intoxication
Right ventricular failure, Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular ... ORPHA:2302
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Orthodeoxia, Exertional dyspne... ORPHA:2032
Surfactant Metabolism Dysfunction, Pulmonary, 2
Intralobular septal thickening, Spontaneous pneumothorax, Recurrent pneumonia, Intraalveolar phos... OMIM:610913
Bronchopulmonary Dysplasia
Right ventricular failure, Atelectasis, Respiratory distress, Emphysema, Central apnea, Hyperoxem... ORPHA:70589
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Aspiration pneumonia ORPHA:141152
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Respiratory distress, Tricuspid regurgitation, Pleural effusion, Cyanos... ORPHA:2414
Landau-Kleffner Syndrome
EEG with frontal focal spikes, Memory impairment, EEG with generalized epileptiform discharges, C... ORPHA:98818
Stuve-Wiedemann Syndrome 2
Congestive heart failure, Respiratory distress, Neonatal death, Death in adolescence, Pulmonary a... OMIM:619751
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Continuous spike and waves during slow sleep, Hyperacti... OMIM:301008
Pleural Mesothelioma
Respiratory distress, Abnormal pleura morphology, Abnormal cardiovascular system physiology, Pleu... ORPHA:50251
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Right ventricular failure, Interlobular septal thickening, Pleural e... ORPHA:199241
Perching Syndrome
Respiratory distress, Cyanosis OMIM:617055
High Altitude Pulmonary Edema
Cyanosis, Pulmonary edema, Tachypnea, Orthopnea, Dyspnea, Tachycardia, Hypoxemia ORPHA:330012
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Recurrent viral upper respiratory tract i... OMIM:619773
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Gait ataxia, Dysphagia, Hyperactivity, Impulsivity OMIM:620448
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis, Hypertrophic cardiomyopathy, Low-output congestive heart failure ORPHA:91130
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent respiratory infections, Bronchiolitis, Cognitive impairment OMIM:615993
Lennox-Gastaut Syndrome
Mental deterioration, Falls, Aggressive behavior, EEG abnormality, Hyperactivity, EEG with focal ... ORPHA:2382
Pulmonary Arteriovenous Malformation
Epistaxis, Abnormal bleeding, Pulmonary hemorrhage, Palpitations, Hemothorax, Transient ischemic ... ORPHA:2038
Stxbp1-Related Encephalopathy
EEG with abnormally slow frequencies, Inability to walk, Hypsarrhythmia, Hyperactivity, Ataxia, M... ORPHA:599373
Hyperprolinemia, Type I
Aggressive behavior, EEG abnormality, Hyperactivity, Ataxia, Motor stereotypy OMIM:239500
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Hypoxemia... ORPHA:79126
Slc35A1-Cdg
Pneumonia, Abnormal bleeding, Respiratory distress, Subcutaneous hemorrhage, Pulmonary hemorrhage... ORPHA:238459
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Inappropriate laughter, Obesity, Short attention span, Polyphagia, Hyperactivit... ORPHA:411515
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Respiratory distress, Reduce... OMIM:613642
Acquired Methemoglobinemia
Respiratory distress, Confusion, Palpitations, Cyanosis, Arrhythmia, Syncope, Dyspnea, Tachycardi... ORPHA:464453
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Apnea, Death in infancy OMIM:610992
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Warfarin-induced skin necrosis, Pulmonary embolism OMIM:176860
Gaucher Disease Type 2
Respiratory distress, Cardiac arrest, Recurrent respiratory infections, Abnormal pattern of respi... ORPHA:77260
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Interstitial Lung Disease 2
Usual interstitial pneumonia, Alveolar cell carcinoma, Pulmonary arterial hypertension, Exertiona... OMIM:178500
Staphylococcal Necrotizing Pneumonia
Pneumonia, Hypotension, Respiratory distress, Confusion, Shock, Pleural effusion, Tachypnea, Pneu... ORPHA:36238
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:619466
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Acute Lung Injury
Pneumonia, Diffuse alveolar hemorrhage, Respiratory distress, Shock, Tachypnea, Dyspnea, Abnormal... ORPHA:178320
Juvenile Huntington Disease
Broad-based gait, Chorea, Gait ataxia, Weight loss, Hyperactivity, Ataxia, Dementia, Progressive ... ORPHA:248111
Meconium Aspiration Syndrome
Atelectasis, Aspiration pneumonia, Respiratory distress, Pneumothorax, Pulmonary arterial hyperte... ORPHA:70588
Hartnup Disorder
Attention deficit hyperactivity disorder, Hyperactivity, Episodic ataxia OMIM:234500
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Respiratory Distress Syndrome In Premature Infants
Atelectasis, Respiratory distress, Pulmonary edema, Tachypnea, Dyspnea OMIM:267450
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Buerger Disease
Vasculitis, Arterial occlusion, Intermittent claudication, Livedo reticularis, Raynaud phenomenon... ORPHA:36258
Cntnap2-Related Developmental And Epileptic Encephalopathy
Mental deterioration, Abnormal temper tantrums, EEG with generalized epileptiform discharges, EEG... ORPHA:163681
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Right ventricular failure, Bundle branch block, Transient ischemic attack, Palpitation... ORPHA:99104
Classic Glucose Transporter Type 1 Deficiency Syndrome
Confusion, Central apnea, Cyanosis ORPHA:71277
Atrial Septal Defect, Ostium Primum Type
Mitral regurgitation, Tachypnea, Abnormally loud pulmonic component of the second heart sound, Pr... ORPHA:99106
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Arrhythmia, Orthopnea, Systolic heart murmur, Right ventricular failure, Tr... ORPHA:99103
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Pulmonary Alveolar Proteinosis, Acquired
Pneumonia, Intraalveolar phospholipid accumulation, Cyanosis, Lung abscess, Dyspnea, Recurrent re... OMIM:610910
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Respiratory distress, Tachypnea, Acute infectious pneumonia, Tachycardia, H... ORPHA:264675
Recurrent Respiratory Papillomatosis
Recurrent pneumonia, Recurrent upper respiratory tract infections, Atelectasis, Respiratory distr... ORPHA:60032
Chromosome 3Q29 Deletion Syndrome
Failure to thrive, Gait ataxia, Aggressive behavior, Hyperactivity, Motor stereotypy, Small for g... OMIM:609425
Cardiogenic Shock
Impaired myocardial contractility, Hypotension, Right ventricular failure, Abnormal left ventricu... ORPHA:97292
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Dyspnea, Pulmonary arterial hypertension, Pulmonary capillary hemangiomatosis, Pulmonary venous o... OMIM:234810
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Respiratory distress, Reduced left ventricula... ORPHA:45452
Laryngotracheal Angioma
Respiratory distress, Apnea, Intercostal retractions, Cyanosis ORPHA:137935
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Recurrent pneumonia, Intercostal retractions, Right v... ORPHA:1329
Cryptogenic Organizing Pneumonia
Respiratory distress, Cyanosis, Pneumothorax, Dyspnea, Hypoxemia ORPHA:1302
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
Pulmonary embolism, Miscarriage ORPHA:82
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Memory impairment, EEG with generalized epileptiform discharges, Inappro... OMIM:619827
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Hyperactivity, Ataxia OMIM:615924
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Obesity, Irritability, Aggressive behavior, Hyperactivity, Anorex... ORPHA:3077
Heparin-Induced Thrombocytopenia
Abnormal onset of bleeding, Cerebral ischemia, Pulmonary embolism, Myocardial infarction ORPHA:3325
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Apnea, Cyanosis, Tachypnea, Pneumothorax, Recurrent respira... ORPHA:2257
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Severe Acute Respiratory Syndrome
Respiratory distress, Hypoxemia, Dyspnea, Acute infectious pneumonia ORPHA:140896
Late Infantile Neuronal Ceroid Lipofuscinosis
Mental deterioration, Inability to walk, Abnormal amplitude of flash visual evoked potentials, EE... ORPHA:168491
Intellectual Developmental Disorder, Autosomal Recessive 38
Recurrent hand flapping, Self-mutilation, Diminished ability to concentrate, Aggressive behavior,... OMIM:615516
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Tachypnea, Dyspnea, Hemosiderin... OMIM:616414
Chronic Pneumonitis Of Infancy
Intercostal retractions, Respiratory distress, Cyanosis, Tachypnea, Hyperventilation, Hypoxemia ORPHA:91359
Rasmussen Subacute Encephalitis
Memory impairment, Continuous spike and waves during slow sleep, EEG with focal sharp slow waves,... ORPHA:1929
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Atelectasis, Respiratory distress, Dyspnea, Bronchi... ORPHA:922
Afibrinogenemia, Congenital
Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr... OMIM:202400
Pulmonary Alveolar Microlithiasis
Right ventricular failure, Bronchitis, Interlobular septal thickening, Subpleural interstitial th... ORPHA:60025
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Impaired pain sensation, Inability to walk, Chorea, Gait ataxia, Aggressive behavior, Hyperactivi... ORPHA:500180
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... OMIM:254210
Congenital Diaphragmatic Hernia
Respiratory distress, Hypoxemia, Pulmonary hypoplasia ORPHA:2140
Malaria
Respiratory distress, Cognitive impairment ORPHA:673
Congenitally Uncorrected Transposition Of The Great Arteries
Congestive heart failure, Abnormal QRS complex, Heart murmur, Cyanosis, Tachypnea, Cardiac shunt,... ORPHA:860
Combined Oxidative Phosphorylation Defect Type 23
Paroxysmal dyspnea, Congestive heart failure, Hypertrophic cardiomyopathy, Cyanosis, Severely red... ORPHA:444013
Tricuspid Atresia
Pulmonary artery atresia, Cyanosis ORPHA:1209
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Inability to walk, Bruxism, Motor stereotypy, Hyperactivity, EEG abnorma... OMIM:618718
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Mental deterioration, Memory impairment ORPHA:240085
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... OMIM:605809
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Hypertension, Pulmonary hypoplasia OMIM:616733
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Erythema, Abnormal capillary physiology, Angioedema ORPHA:100057
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress ORPHA:238329
Myopathy And Diabetes Mellitus
Respiratory distress, Delirium, Dementia ORPHA:2596
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea ORPHA:1832
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Chorea, Aggressive behavior, Hyperactivity, Ataxia, Athetosis ORPHA:382
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Sarcoidosis, Susceptibility To, 2
Emphysema, Hypoxemia, Pleural effusion, Pneumothorax, Pulmonary arterial hypertension, Dyspnea, A... OMIM:612387
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Dilated cardiomyopathy OMIM:300580
Intellectual Developmental Disorder, Autosomal Dominant 67
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity OMIM:619927
Laryngotracheoesophageal Cleft
Dyspnea, Recurrent respiratory infections, Cyanosis ORPHA:2004
Bronchiolitis Obliterans
Pneumonia, Respiratory tract infection, Dyspnea, Bronchiolitis obliterans, Hypoxemia, Bronchiectasis ORPHA:1303
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Recurrent pneumonia, Motor deterioration ORPHA:254875
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Pleural effusion, Pneumothorax, Dyspnea, Bronchiectasis ORPHA:411703
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Purpura, Warfarin-induced skin necrosis, Pulmonary embolism OMIM:612336
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Respiratory distress, Cystic pattern on pulmonary HRCT, Oxygen desaturation on exert... OMIM:610978
Tetrasomy 5P
Congestive heart failure, Respiratory distress, Cyanosis, Pulmonary arterial hypertension, Heart ... ORPHA:3309
Cardiomyopathy, Familial Hypertrophic, 4
Atrioventricular block, Congestive heart failure, Respiratory distress, Hypertrophic cardiomyopat... OMIM:115197
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Cardiomyopathy ORPHA:26792
Avian Influenza
Pneumonia, Congestive heart failure, Respiratory distress, Pleural effusion, Tachypnea, Pneumotho... ORPHA:454836
Nipah Virus Disease
Respiratory distress, Hypotension, Recurrent pharyngitis ORPHA:99825
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Congestive heart failure, Anomal... ORPHA:99050
Congenital Alpha2-Antiplasmin Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Hemothorax, Intracranial hemorrhag... ORPHA:79
Telangiectasia, Hereditary Hemorrhagic, Type 1
Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Telangie... OMIM:187300
Absence Of The Pulmonary Artery
Atrial fibrillation, Recurrent pneumonia, Atrial flutter, Congestive heart failure, Abnormal EKG,... ORPHA:980
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, EEG abnormality, At... OMIM:610042
Tularemia
Pneumonia, Respiratory distress, Confusion, Pleural effusion, Tachycardia ORPHA:3392
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Automatic atrial tachycardia, Systolic heart murmur, Tricuspid re... ORPHA:99105
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Mercury Poisoning
Hypotension, Respiratory distress, Confusion, Interstitial pneumonitis, Dyspnea, Tachycardia, Hyp... ORPHA:330021
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Pulmonary artery dilatation, Tricuspid regurgitation, Palpitations, Central... OMIM:620067
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Pneumonia ORPHA:596
Familial Isolated Restrictive Cardiomyopathy
Atrial fibrillation, Abnormal left ventricular function, Hypertrophic cardiomyopathy, Tricuspid r... ORPHA:75249
Congenital Fibrinogen Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Subcutaneous hemorrhage, Cyanosis,... ORPHA:335
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cardiomyopathy, Congestive heart failure, Respiratory distress, Hypertrophic cardiom... OMIM:261740
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Recurrent acute respiratory tract infection, Paradoxical respiration OMIM:620011
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Intraalveolar phospholipid accumulation, Cyanosis, Dyspnea, Hypoxemia ORPHA:747
Hereditary Methemoglobinemia
Exertional dyspnea, Cyanosis ORPHA:621
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
EEG with abnormally slow frequencies, Broad-based gait, Inappropriate laughter, Abnormal eating b... ORPHA:98794
Succinic Acidemia
Respiratory distress OMIM:600335
Inhalational Anthrax
Hypotension, Respiratory distress, Confusion, Internal hemorrhage, Dyspnea ORPHA:247257
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Atelectasis, Neonatal death OMIM:300219
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Mental deterioration, Memory impairment ORPHA:240103
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Confusion, Cerebral ischemia, Cognitive impairment, Delirium ORPHA:927
Choanal Atresia
Respiratory distress, Recurrent respiratory infections, Cyanosis ORPHA:137914
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, In... ORPHA:95430
Ethylene Glycol Poisoning
Hypotension, Abnormal pattern of respiration, Congestive heart failure, Shock, Confusion, Cyanosi... ORPHA:31826
Aortic Arch Interruption
Aortic regurgitation, Congestive heart failure, Respiratory distress, Tricuspid regurgitation, Sh... ORPHA:2299
Breath-Holding Spells
Cyanosis OMIM:607578
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Death in infancy OMIM:616974
Interstitial Lung Disease 1
Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Ele... OMIM:619611
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Progressive Supranuclear Palsy
Memory impairment, Falls, Cognitive impairment, Dementia, Unsteady gait, Dysphagia, Impulsivity, ... ORPHA:683
Congenital Myopathy 10A, Severe Variant
Respiratory distress OMIM:614399
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Abnormal anterior horn cell morphology, Cognitive impairment, Degeneration ... ORPHA:1145
Neuralgic Amyotrophy
Acrocyanosis ORPHA:2901
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Infantile Neuroaxonal Dystrophy
Mental deterioration, Short attention span, Abnormality of peripheral nerve conduction, Unsteady ... ORPHA:35069
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Progressive neurologic deterioration OMIM:612075
Telangiectasia, Hereditary Hemorrhagic, Type 4
Right-to-left shunt, Tongue telangiectasia, Transient ischemic attack, Ischemic stroke, Nasal muc... OMIM:610655
Myoclonic-Astatic Epilepsy
Ataxia, EEG with irregular generalized spike and wave complexes, EEG with focal spike waves, EEG ... ORPHA:1942
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Telangiectasia, Hereditary Hemorrhagic, Type 2
Nasal mucosa telangiectasia, Facial telangiectasia, Cerebral hemorrhage, Fingerpad telangiectases... OMIM:600376
Double Outlet Right Ventricle
Heart murmur, Cyanosis, Tachypnea, Pulmonary artery atresia, Tachycardia, Pulmonic stenosis ORPHA:3426
Postsynaptic Congenital Myasthenic Syndromes
Exertional dyspnea, Orthopnea, Cyanosis ORPHA:98913
Chitayat Syndrome
Respiratory distress, Abnormal pulmonary interstitial morphology, Recurrent respiratory infections OMIM:617180
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Cognitive impairment ORPHA:309246
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Hypertrophic cardiomyopathy OMIM:613561
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Purpura, Vitreous hemorrhage, Pulmonary embolism OMIM:612304
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Confusion, Delirium, Restlessness, Agitation ORPHA:100924
Intellectual Developmental Disorder, X-Linked 107
Aggressive behavior, Attention deficit hyperactivity disorder, Obesity, Hyperactivity OMIM:301013
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Alpha-2-Plasmin Inhibitor Deficiency
Persistent bleeding after trauma, Joint hemorrhage, Hemothorax, Bruising susceptibility OMIM:262850
Intellectual Developmental Disorder, Autosomal Dominant 45
Slender build, Chorea, Recurrent hand flapping, Attention deficit hyperactivity disorder, Hyperac... OMIM:617600
Hyperlysinemia, Type I
Dysdiadochokinesis, Short attention span, Cognitive impairment, Hyperactivity OMIM:238700
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Congestive heart failure, Respiratory distress, Generalized abnormality o... ORPHA:367
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Atrioventricular block, Dilated cardiomyopathy, Respiratory distress, Episodic tachypn... ORPHA:26793
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Congestive heart failure, Respiratory distress, Confusion, Hypertrophic cardiomyo... OMIM:212140
X-Linked Adrenoleukodystrophy
Somatic sensory dysfunction, Disinhibition, Aggressive behavior, Attention deficit hyperactivity ... ORPHA:43
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Cyanosis, Tachypnea, Hypoxemia, Anomalous pulmonary venous return, Systo... ORPHA:555874
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Death in infancy OMIM:615042
Scimitar Syndrome
Pulmonary artery hypoplasia, Bronchogenic cyst, Congestive heart failure, Respiratory distress, H... ORPHA:185
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea, Cardiomyopathy ORPHA:86812
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failu... ORPHA:2326
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Neoplasm of the lung ORPHA:142
Cocaine Intoxication
Diffuse alveolar hemorrhage, Hypotension, Respiratory distress, Ventricular arrhythmia, Prolonged... ORPHA:90068
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Petechiae, Neonatal death, Progressive neurologic deterioration, Pur... OMIM:608013
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Eosinophilic Granulomatosis With Polyangiitis
Vasculitis, Recurrent intrapulmonary hemorrhage, Hypertrophic cardiomyopathy, Congestive heart fa... ORPHA:183
Odontochondrodysplasia 1
Respiratory distress, Recurrent respiratory infections, Death in infancy, Pulmonary hypoplasia OMIM:184260
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Respiratory distress, Hypertrophic cardiomyopathy, Death in infancy, Tach... OMIM:614299
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Recurrent respiratory infections, Dyspnea ORPHA:2759
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypopnea, Respiratory distress, Apnea, Death in childhood, Death in infancy, Cyanosis, Recurrent ... OMIM:618426
Laryngomalacia
Respiratory distress OMIM:150280
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Heart murmur, Acrocyanosis ORPHA:1867
Restrictive Dermopathy 2
Respiratory distress, Cyanosis OMIM:619793
Acquired Purpura Fulminans
Macular purpura, Shock, Internal hemorrhage, Prolonged prothrombin time, Intracranial hemorrhage,... ORPHA:49566
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Neonatal death, Jaundice, Pulmonary hypoplasia OMIM:231680
Eisenmenger Syndrome
Elevated jugular venous pressure, Right ventricular failure, Tricuspid regurgitation, Palpitation... ORPHA:97214
Hemorrhagic Fever-Renal Syndrome
Pneumonia, Epistaxis, Hypotension, Subconjunctival hemorrhage, Respiratory distress, Confusion, S... ORPHA:340
Sepsis In Premature Infants
Hypotension, Abnormal bleeding, Petechiae, Cyanosis, Jaundice, Bradycardia, Dyspnea, Tachycardia,... ORPHA:90051
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Attention deficit hyperactivity disorder, Hypertrophic cardiomyopathy, Recu... OMIM:619383
Diffuse Alveolar Hemorrhage
Pulmonary venous hypertension, Irregular septal thickening on pulmonary HRCT, Dyspnea, Pulmonary ... ORPHA:90060
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Congestive heart failure, Respiratory distress, Neonatal death, Palmoplantar cutis laxa, Pulmonar... OMIM:616482
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Bronchiectasis OMIM:606763
Dravet Syndrome
Short attention span, Cognitive impairment, Cyanotic episode ORPHA:33069
Bacterial Toxic-Shock Syndrome
Pneumonia, Hypotension, Respiratory distress, Confusion, Shock, Respiratory tract infection, Ecch... ORPHA:36234
Congenital Myasthenic Syndrome
Cyanosis, Episodic respiratory distress, Apneic episodes precipitated by illness, fatigue, stress... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis, Episodic respiratory distress, Apneic episodes precipitated by illness, fatigue, stress... ORPHA:98914
Idiopathic Hypereosinophilic Syndrome
Memory impairment, Pulmonary embolism, Dilated cardiomyopathy, Angioedema, Dementia, Respiratory ... ORPHA:3260
Lujo Hemorrhagic Fever
Mental deterioration, Hypotension, Atelectasis, Respiratory distress, Confusion, Shock, Excessive... ORPHA:319213
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Telangiectasia OMIM:608799
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Lymphoid Interstitial Pneumonia
Subpleural interstitial thickening, Hypoxemia, Respiratory tract infection, Pulmonary venous hype... ORPHA:79128
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Chylothorax, Subdural hemorrhage, Respiratory distress, Death in childhood, Death in infancy, Cer... OMIM:620278
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Elevated pulmonary artery pressure OMIM:178400
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Hypertrophic cardiomyopathy, Death in infancy, Irregular respiration, Cardi... OMIM:604377
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Exertional dyspnea, Cyanosis OMIM:250800
Neurodevelopmental Disorder With Or Without Autism Or Seizures
EEG with burst suppression, Hypsarrhythmia, Hyperactivity, Failure to thrive OMIM:619239
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Gastrointestinal hemorrhage, Congestive heart failure, Respiratory distres... ORPHA:363705
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Respiratory distress, Left ventricular diastolic dysfunction OMIM:620375
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Cardiomyopathy, Cyanosis, Arrhythmia, Ventricular tachycardia, Sudden episodic apnea ORPHA:159
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae, Death in infancy OMIM:602473
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Confusion, Transient ischemic attack, Prolonged neonatal jaundice, Jaundice... OMIM:274150
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Nocturnal hypoventilation, Death in childhood, Dyspnea, Recurrent respirato... OMIM:211530
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... ORPHA:137675
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress ORPHA:254864
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Fixed Subaortic Stenosis
Aortic regurgitation, Congestive heart failure, Paroxysmal atrial fibrillation, Palpitations, Mit... ORPHA:3092
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Cerebral hemorrhage OMIM:614514
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cyanosis ORPHA:391428
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Confusion, Tachypnea, Cognitive impairment OMIM:237310
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Attention deficit hyperactivity disorder, Apnea, Short attention span, Cyanosis OMIM:619580
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Death in childhood OMIM:615597
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress ORPHA:1143
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Recurrent pneumonia, Aspiration pneumonia, Respiratory distress, Apnea, Hypoventilation ORPHA:314655
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Stillbirth, Pulmonary hypoplasia OMIM:151210
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Cardiomyopathy ORPHA:79312
Waardenburg Syndrome Type 3
Acrocyanosis, Atelectasis ORPHA:896
Odontochondrodysplasia
Respiratory distress, Death in infancy ORPHA:166272
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Prolonged neonatal jaundice, Bradycardia ORPHA:226313
X-Linked Cerebral Adrenoleukodystrophy
Mental deterioration, Memory impairment, Difficulty walking, Confusion, Inability to walk, Short ... ORPHA:139396
Necrotizing Enterocolitis
Hypotension, Shock, Apnea, Cyanosis, Bradycardia ORPHA:391673
Isolated Atp Synthase Deficiency
Respiratory distress, Arrhythmia, Dilated cardiomyopathy, Hypertrophic cardiomyopathy ORPHA:254913
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Respiratory distress, Jaundice OMIM:250940
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Cyanosis OMIM:610773
Insulin-Like Growth Factor I Deficiency
Short attention span, Hyperactivity, Decreased body weight OMIM:608747
Brain-Lung-Thyroid Syndrome
Recurrent pneumonia, Respiratory distress, Short attention span, Pulmonary arterial hypertension,... ORPHA:209905
Double Outlet Left Ventricle
Cyanosis, Abnormal right ventricular function, Pulmonary artery stenosis, Tachypnea, Systolic hea... ORPHA:3427
Hyperimmunoglobulinemia D With Periodic Fever
Vasculitis, Gastrointestinal hemorrhage, Erythema, Purpura, Acrocyanosis, Urticaria ORPHA:343
Congenital Enterovirus Infection
Hypotension, Abnormal bleeding, Cardiomyopathy, Respiratory distress, Pleural effusion, Myocarditis ORPHA:292
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Acrocyanosis, Bradycardia OMIM:614407
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Pulmonary hypoplasia OMIM:617895
Agnathia-Otocephaly Complex
Respiratory distress, Pulmonary hypoplasia OMIM:202650
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode ORPHA:284417
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Pulmonary arterial hypertension, Exertional dyspnea, Recur... ORPHA:98915
Mucopolysaccharidosis-Plus Syndrome
Recurrent pneumonia, Congestive heart failure, Respiratory distress, Hypertrophic cardiomyopathy,... OMIM:617303
Myotonic Dystrophy 1
Respiratory distress, Atrial fibrillation, First degree atrioventricular block, Atrial flutter OMIM:160900
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Pulmonary arterial hypertension, Bradycardia OMIM:619272
Tetanus
Respiratory distress, Tachypnea, Bradycardia, Tachycardia, Hypertension ORPHA:3299
Meckel Syndrome 14
Tricuspid regurgitation, Cyanosis, Mitral regurgitation, Pneumothorax, Pulmonary hypoplasia OMIM:619879
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Hughes-Stovin Syndrome
Vasculitis, Pulmonary artery aneurysm, Pulmonary embolism, Pulmonary arterial hypertension, Dyspnea ORPHA:228116
Neurodegeneration With Brain Iron Accumulation 2B
Mental deterioration, Chorea, Short attention span, Gait ataxia, Dysmetria, Hyperactivity, Dyspha... OMIM:610217
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Tricuspid regurgitation, Pneumothorax, Pulmonary hypoplasia OMIM:620306
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea, Cyanosis OMIM:261680
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Purpura, Warfarin-induced skin necrosis, Pulmonary embolism ORPHA:745
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Hypertrophic cardiomyopathy, Respiratory tract infection, Shortened PR inte... ORPHA:308552
X-Linked Creatine Transporter Deficiency
Chorea, Self-mutilation, Cachexia, Hyperactivity, Ataxia, Athetosis ORPHA:52503
Structural Heart Defects And Renal Anomalies Syndrome
Partial anomalous pulmonary venous return, Cyanosis, Death in infancy, Systolic heart murmur OMIM:617478
Congenital Total Pulmonary Venous Return Anomaly
Mixed total anomalous pulmonary venous connection, Right ventricular failure, Paroxysmal dyspnea,... ORPHA:99125
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Mental deterioration OMIM:620166
Catastrophic Antiphospholipid Syndrome
Pulmonary embolism, Arterial occlusion, Transient ischemic attack, Cutis marmorata, Abnormal hear... ORPHA:464343
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infan... ORPHA:348
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress ORPHA:261304
Truncus Arteriosus
Aortic regurgitation, Pulmonary artery hypoplasia, Abnormal lung lobation, Cyanosis, Anomalous or... ORPHA:3384
Q Fever
Pneumonia, Vasculitis, Respiratory distress, Pleural effusion, Myocarditis, Abnormal pulmonary in... ORPHA:781
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Congestive heart failure, Respiratory distress, Hypertrophic cardiomyopat... ORPHA:3342
Glycogen Storage Disease Due To Acid Maltase Deficiency
Vasculitis, Atelectasis, Respiratory distress, Hypertrophic cardiomyopathy, Transient ischemic at... ORPHA:365
Congenital Tracheal Stenosis
Abnormal lung lobation, Respiratory distress, Anomalous origin of left pulmonary artery from asce... ORPHA:141127
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Abnormality of the pul... ORPHA:90308
Unilateral Polymicrogyria
Epistaxis, Apnea, Cyanosis, Pulmonary arteriovenous malformation ORPHA:268943
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress ORPHA:89844
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress ORPHA:289916
Goodpasture Syndrome
Reticular pattern on pulmonary HRCT, Pulmonary hemorrhage, Nodular pattern on pulmonary HRCT, Cya... OMIM:233450
Spastic Paraplegia Type 2
Recurrent respiratory infections, Pulmonary embolism ORPHA:99015
3-Methylglutaconic Aciduria, Type Viib
Recurrent pneumonia, Abnormal bleeding, Congestive heart failure, Respiratory distress, Prolonged... OMIM:616271
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Recurrent respiratory infections ORPHA:329178
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Tricuspid regurgitation, Short attention span, Diminished ability to concen... OMIM:612863
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis, Pulmonic stenosis ORPHA:3304
Infantile Krabbe Disease
Mental deterioration, Respiratory distress, Abnormal heart rate variability, Progressive neurolog... ORPHA:206436
Congenital Laryngeal Web
Respiratory distress ORPHA:2374
Aicardi-Goutieres Syndrome 1
Vasculitis, Erythema, Cardiomyopathy, Petechiae, Prolonged neonatal jaundice, Acrocyanosis, Purpura OMIM:225750
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Mental deterioration, Memory impairment, Pulmonary embolism, Subdural hemorrhage, Dilated cardiom... ORPHA:79282
Cryptococcosis
Pneumonia, Mental deterioration, Memory impairment, Respiratory distress, Nodular pattern on pulm... ORPHA:1546
Japanese Encephalitis
Abnormal pattern of respiration, Respiratory distress, Pulmonary edema, Cognitive impairment, Irr... ORPHA:79139
Criss-Cross Heart
Supravalvular aortic stenosis, Cyanosis, Mitral stenosis, Tricuspid stenosis, Pulmonic stenosis ORPHA:1461
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Degeneration of anterior horn cells OMIM:271225
Esophageal Atresia
Bronchitis, Respiratory distress, Cyanosis, Episodic respiratory distress, Recurrent respiratory ... ORPHA:1199
Idiopathic Pulmonary Arterial Hypertension
Congestive heart failure, Tricuspid regurgitation, Palpitations, Increased pulmonary vascular res... ORPHA:275766
Triosephosphate Isomerase Deficiency
Congestive heart failure, Respiratory distress, Death in infancy, Death in adolescence, Prolonged... OMIM:615512
Lymphatic Malformation 7
Respiratory distress, Pulmonary edema, Chylothorax, Pleural effusion OMIM:617300
Toxic Epidermal Necrolysis
Erythema, Gastrointestinal hemorrhage, Respiratory distress, Abnormal pleura morphology, Recurren... ORPHA:537
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress ORPHA:544503
Pulmonary Hypertension, Primary, 3
Dyspnea, Elevated pulmonary artery pressure, Pulmonary arterial hypertension, Increased pulmonary... OMIM:615343
Primary Dystonia, Dyt4 Type
Respiratory distress, Dementia ORPHA:98805
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Cerebellar hemorrhage, Cardiomyopathy OMIM:251000
Congenitally Corrected Transposition Of The Great Arteries
Arrhythmia, Heart block, Aortic regurgitation, Third degree atrioventricular block, Tricuspid reg... ORPHA:216694
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Stt3B-Cdg
Respiratory distress ORPHA:370924
Familial Dysautonomia
Abnormal pleura morphology, Acrocyanosis, Orthostatic hypotension, Tachycardia, Recurrent respira... ORPHA:1764
Thyroid Lymphoma
Respiratory distress, Dyspnea ORPHA:97285
Diaphanospondylodysostosis
Respiratory distress, Pulmonary hypoplasia OMIM:608022
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Pulmonary fibrosis OMIM:612852
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Recurrent upper respiratory tract infections, Recurrent pneumonia OMIM:607143
Heterotaxy, Visceral, 7, Autosomal
Pulmonary artery atresia, Pulmonary artery hypoplasia, Total anomalous pulmonary venous return, C... OMIM:616749
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Exertional dyspnea, Death in childhood, Hypertrophic cardiomyopathy OMIM:220110
Mogs-Cdg
Respiratory distress, Pulmonary edema, Apnea, Hypoventilation ORPHA:79330
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea ORPHA:79242
Moebius Syndrome
Respiratory distress OMIM:157900
Radio-Renal Syndrome
Respiratory distress, Chylothorax, Dyspnea, Pleural effusion ORPHA:3015
Chiari Malformation Type Ii
Cyanosis OMIM:207950
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Hypertension, Recurrent infections due to aspiration, Orthostatic hypotension, Tachycardia, Acroc... OMIM:223900
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Tachycardia, Jaundice, Purpura, Diffuse alveolar hemorrhage, Bundle branch blo... ORPHA:99827
Poems Syndrome
Acrocyanosis, Pulmonary arterial hypertension, Pleural effusion, Plethora ORPHA:2905
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Myasthenia Gravis
Dyspnea, Acrocyanosis, Raynaud phenomenon ORPHA:589
Hypoglossia With Situs Inversus
Respiratory distress OMIM:612776
Alternating Hemiplegia Of Childhood
Cardiomyopathy, Abnormal T-wave, Respiratory distress, Apnea, Cardiac conduction abnormality, Arr... ORPHA:2131
Alfadhel Syndrome
Nasal flaring OMIM:620655
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Pulmonary arterial hypertension ORPHA:2519
Dermatomyositis
Vasculitis, Erythema, Shawl sign, Sinus tachycardia, V-sign, Acrocyanosis, Lung adenocarcinoma, A... ORPHA:221
Achondroplasia
Respiratory distress, Death in infancy, Pulmonary hypoplasia OMIM:100800
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Congestive heart failure, Respiratory distress, Hypertrophic cardiomyopathy, Tricuspid regurgitat... ORPHA:505248
Farber Disease
Respiratory distress, Recurrent upper respiratory tract infections, Nodular pattern on pulmonary ... ORPHA:333
Hereditary Angioedema Type 1
Hypotension, Dermatographic urticaria, Respiratory distress, Dyspnea, Urticaria ORPHA:100050
Tarp Syndrome
Apnea, Cyanosis, Pulmonary hypoplasia ORPHA:2886
Coccidioidomycosis
Pneumonia, Vasculitis, Vasospasm, Respiratory distress, Exudative pleural effusion, Cerebral isch... ORPHA:228123
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Mgat2-Cdg
Abnormal bleeding, Respiratory distress, Arrhythmia, Reflex asystolic syncope, Recurrent upper an... ORPHA:79329
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Obesity, Emotional lability, Abdominal obesity OMIM:219090
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea ORPHA:2707
Mitochondrial Complex I Deficiency, Nuclear Type 1
Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Apnea, Cyanosis, Death in in... OMIM:252010
Leptospirosis
Hypotension, Respiratory distress, Pulmonary hemorrhage, Pleural effusion, Arrhythmia, Jaundice, ... ORPHA:509
Listeriosis
Pneumonia, Arteritis, Congestive heart failure, Respiratory distress, Miscarriage, Myocarditis, J... ORPHA:533
Cardiac Valvular Dysplasia 1
Valvular pulmonary stenosis, Tricuspid regurgitation, Mitral regurgitation, Mitral stenosis, Cyan... OMIM:212093
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Hypertrophic cardiomyopathy, Apnea, Short attention span, Recurrent respira... ORPHA:17
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Respiratory distress, Mitral stenosis, Cyanosis, Bilater... OMIM:306955
Osteogenesis Imperfecta, Type X
Respiratory distress, Recurrent pneumonia, Death in childhood OMIM:613848
Rodrigues Blindness
Nasal flaring, Ectodermal dysplasia OMIM:268320
Tuberous Sclerosis Complex
Generalized abnormality of skin, Respiratory distress, Pulmonary lymphangiomyomatosis, Respirator... ORPHA:805
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension with lack of acute response to NO challenge, Atrial flutter, Incr... OMIM:615344
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Short attention span ORPHA:438216
Hutchinson-Gilford Progeria Syndrome
Aortic valve stenosis, Aortic regurgitation, Generalized abnormality of skin, Premature skin wrin... ORPHA:740
Postinfectious Vasculitis
Pneumonia, Palpable purpura, Cerebral vasculitis, Cardiomyopathy, Cutis marmorata, Ischemic strok... ORPHA:48435
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Bruising susceptibility, Atelectasis, Respiratory distress, Repeated pneumothoraces, Pulmonary hy... ORPHA:536467
Nocardiosis
Pneumonia, Respiratory distress, Emphysema, Pleural effusion, Pneumothorax, Dyspnea, Pleuritis, P... ORPHA:31204
Nasolacrimal Duct Cyst
Intercostal retractions, Paroxysmal dyspnea, Episodic respiratory distress ORPHA:141083
Colchicine Poisoning
Hypotension, Cardiogenic shock, Congestive heart failure, Respiratory distress, Arrhythmia, Myoca... ORPHA:31824
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Pneumonia, Respiratory distress, Interstitial pneumonitis, Recurrent respiratory infections, Urti... ORPHA:37042
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis ORPHA:488627
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Pleural effusion, Pulmonary hypoplasia OMIM:620369
Choreoacanthocytosis
Mental deterioration, Hair-pulling, Loss of ambulation, Weight loss, Dysphagia, Socially inapprop... ORPHA:2388
Multiple Mitochondrial Dysfunctions Syndrome 7
Apnea, Cyanosis OMIM:620423
Kniest Dysplasia
Respiratory distress OMIM:156550
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Recurrent respiratory infections OMIM:300968
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Jaundice, Death in infancy, Congestive heart failure OMIM:617156
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Pulmonary embolism, Pleural effusion, Respiratory tract infection, Dyspnea, Hypertension ORPHA:567546
Neurodegeneration With Brain Iron Accumulation 1
Phonic tics, Mental deterioration, Akinesia, Obsessive-compulsive trait, Motor tics, Gait disturb... OMIM:234200
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Hypertension ORPHA:1555
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita... ORPHA:70591
Myasthenic Syndrome, Congenital, 21, Presynaptic
Apnea, Cyanosis OMIM:617239
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Cardiomyopathy OMIM:217980
Oromandibular Dystonia
Respiratory distress ORPHA:93958
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Attention deficit hyperactivity disorder, Recurrent respiratory infections ORPHA:177907
Neuroblastoma
Respiratory distress, Abnormal bleeding, Hypertension ORPHA:635
Hyperoxaluria, Primary, Type I
Atrioventricular block, Arterial occlusion, Cutis marmorata, Intermittent claudication, Raynaud p... OMIM:259900
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Palmoplantar cutis laxa, Hypertension OMIM:123790
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Aortic valve stenosis, Pulmonary arterial hypertension ORPHA:210122
Polycythemia Vera
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Pulmonary embolism, Bruising susceptib... ORPHA:729
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Dilated cardiomyopathy OMIM:251110
Severe Generalized Junctional Epidermolysis Bullosa
Pneumonia, Dilated cardiomyopathy, Respiratory distress, Pneumothorax, Fragile skin, Bradycardia,... ORPHA:79404
Microlissencephaly-Micromelia Syndrome
Respiratory distress ORPHA:50810
Primary Hyperoxaluria
Arterial occlusion, Cardiomyopathy, Cutis marmorata, Intermittent claudication, Raynaud phenomeno... ORPHA:416
Hereditary Hemorrhagic Telangiectasia
Epistaxis, Gastrointestinal hemorrhage, Pulmonary embolism, Spontaneous hematomas, Tongue telangi... ORPHA:774
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress ORPHA:990
Meier-Gorlin Syndrome 1
Respiratory distress, Emphysema, Death in infancy OMIM:224690
Kasabach-Merritt Phenomenon
Hypopnea, Respiratory distress, Petechiae, Prolonged prothrombin time, Purpura ORPHA:2330
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Recurrent upper respiratory tract infections, Central hypoventilation, Cyanosis, Hypoventilation,... ORPHA:293987
Ehlers-Danlos Syndrome, Vascular Type
Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Bruising susceptibility, Emphysema, Arteri... OMIM:130050
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress OMIM:610536
Fucosidosis
Acrocyanosis, Vascular skin abnormality ORPHA:349
Biotinidase Deficiency
Respiratory distress, Hyperventilation, Apnea ORPHA:79241
Oculopharyngodistal Myopathy 1
Dilated cardiomyopathy, Respiratory distress, Paroxysmal atrial fibrillation, Hypertrophic cardio... OMIM:164310
Mitochondrial Dna-Associated Leigh Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Apnea, Cardiac conduction abnormality, Episo... ORPHA:255210
Adnp Syndrome
Respiratory distress, Attention deficit hyperactivity disorder, Recurrent upper respiratory tract... ORPHA:404448
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Erythema, Respiratory distress, Fragile skin, Abnormal pulmonary interstitial morphology, Recurre... OMIM:614748
Hereditary Sensory And Autonomic Neuropathy Type 4
Pain insensitivity, Hyperesthesia, Somatic sensory dysfunction, Painless fractures due to injury,... ORPHA:642
Pachyonychia Congenita
Respiratory distress ORPHA:2309
Auriculocondylar Syndrome
Respiratory distress ORPHA:137888
Plague
Hypotension, Abnormal bleeding, Respiratory distress, Arrhythmia, Hematemesis, Acute infectious p... ORPHA:707
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress, Jaundice, Prolonged neonatal jaundice OMIM:256810
Gitelman Syndrome
Prominent U wave, Abnormal T-wave, Respiratory distress, Palpitations, ST segment depression, Syn... ORPHA:358
Pfeiffer Syndrome Type 2
Respiratory distress ORPHA:93259
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress OMIM:183900
Pfeiffer Syndrome Type 3
Respiratory distress ORPHA:93260
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Recurrent respiratory infections OMIM:615273
Methylmalonic Aciduria, Cbla Type
Respiratory distress OMIM:251100
Neuromuscular Oculoauditory Syndrome
Respiratory distress OMIM:618733
Microphthalmia With Linear Skin Defects Syndrome
Erythema, Dilated cardiomyopathy, Respiratory distress, Hypertrophic cardiomyopathy, Tricuspid re... ORPHA:2556
Pitt-Hopkins Syndrome
Hyperventilation, Acrocyanosis, Abnormal pattern of respiration ORPHA:2896
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Failure to thrive, Abnormal fear-induced behavior, Obesity, Emotional la... ORPHA:353281
Generalized Arterial Calcification Of Infancy
Respiratory distress, Transient ischemic attack, Left ventricular systolic dysfunction, Cyanosis,... ORPHA:51608
Arboleda-Tham Syndrome
Respiratory distress, Recurrent aspiration pneumonia, Recurrent respiratory infections, Pulmonic ... OMIM:616268
Hyperparathyroidism, Transient Neonatal
Respiratory distress OMIM:618188
Overhydrated Hereditary Stomatocytosis
Prolonged neonatal jaundice, Jaundice, Pulmonary embolism OMIM:185000
Diamond-Blackfan Anemia 10
Respiratory distress OMIM:613309
Ramos-Arroyo Syndrome
Respiratory distress ORPHA:1051
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Periorbital wrinkles, Hypohidrotic ectodermal dysplasia OMIM:305100
Campomelic Dysplasia
Respiratory distress, Recurrent lower respiratory tract infections, Recurrent upper respiratory t... OMIM:114290
Rubinstein-Taybi Syndrome 1
Respiratory distress, Recurrent upper respiratory tract infections, Short attention span, Respira... OMIM:180849
Shwachman-Diamond Syndrome 1
Respiratory distress OMIM:260400
Familial Chylomicronemia Syndrome
Dementia, Jaundice, Memory impairment, Pulmonary embolism ORPHA:444490
Classical Ehlers-Danlos Syndrome
Poor wound healing, Bruising susceptibility, Arterial rupture, Mitral regurgitation, Abnormal hea... ORPHA:287
Aicardi-Goutières Syndrome
Hypertrophic cardiomyopathy, Cutis marmorata, Raynaud phenomenon, Prolonged neonatal jaundice, Ac... ORPHA:51
Schinzel-Giedion Syndrome
Respiratory distress, Recurrent pneumonia, Pulmonary hypoplasia ORPHA:798
8Q24.3 Microdeletion Syndrome
Respiratory distress, Gastrointestinal hemorrhage, Abnormal lung lobation ORPHA:508488
Ear-Patella-Short Stature Syndrome
Respiratory distress, Dyspnea ORPHA:2554
Osteoglophonic Dysplasia
Respiratory distress OMIM:166250
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Pulmonary hypoplasia ORPHA:83617
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Attention deficit hyperactivity disorder, Nasal flaring ORPHA:466943
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Pulmonary artery stenosis, Pulmonic stenosis ORPHA:2255
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Failure to thrive, Abnormal fear-induced behavior, Obesity, Emotional la... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Failure to thrive, Abnormal fear-induced behavior, Obesity, Emotional la... ORPHA:353277
Cleidocranial Dysplasia 1
Respiratory distress OMIM:119600
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Pneumonia, Generalized abnormality of skin ORPHA:95455
Isolated Arrhinia
Respiratory distress ORPHA:1134
Hypermobile Ehlers-Danlos Syndrome
Epistaxis, Bruising susceptibility, Apnea, Arrhythmia, Raynaud phenomenon, Acrocyanosis ORPHA:285
Ulbright-Hodes Syndrome
Respiratory distress, Pneumothorax, Pulmonary hypoplasia ORPHA:3404
Doors Syndrome
Respiratory distress, Aspiration pneumonia ORPHA:79500
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Cardiomyopathy, Recurrent upper and lower respiratory tract infections ORPHA:480880
Stüve-Wiedemann Syndrome
Respiratory distress, Apnea ORPHA:3206
Multiple Osteochondromas
Pneumothorax, Hemothorax ORPHA:321
Coffin-Lowry Syndrome
Cutis marmorata, Acrocyanosis, Mitral regurgitation OMIM:303600
Alström Syndrome
Recurrent pneumonia, Recurrent upper respiratory tract infections, Dilated cardiomyopathy, Conges... ORPHA:64
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress OMIM:617088
Pmm2-Cdg
Aspiration pneumonia, Respiratory distress, Hypertrophic cardiomyopathy, Abnormal subcutaneous fa... ORPHA:79318
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Recurrent pneumonia ORPHA:99646

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 Git1

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 Git1.

No publications found that use IMPC mice or data for Git1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Git1tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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