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Gene: Zfand5 MGI:1278334

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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:
zinc finger, AN1-type domain 5
Synonyms:
Zfp216,  Za20d2,  2310057A04Rik,  5830475F03Rik

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 Zfand5 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 Zfand5 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Edema, Atelectasis, Dyspnea, Tachypnea, Pulm... OMIM:267450
Infant Acute Respiratory Distress Syndrome
Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal flaring, ... ORPHA:70587
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Diffuse alveolar hemorrhage, Right ventricular failure, Pericardial effusion, Pu... ORPHA:199241
High Altitude Pulmonary Edema
Orthopnea, Tachycardia, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary edema ORPHA:330012
Familial Isolated Restrictive Cardiomyopathy
Recurrent respiratory infections, Orthopnea, Tricuspid regurgitation, Atrial fibrillation, Suprav... ORPHA:75249
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Micrognathia, Dyspnea, Temporomandibular joint ankylosis, Upper airway obst... ORPHA:141152
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Edema, Pulmonary edema OMIM:178400
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degr... OMIM:115197
Adult Acute Respiratory Distress Syndrome
Shock, Pneumonia, Dyspnea, Vasculitis, Hypoxemia, Respiratory failure, Abnormal blood gas level, ... ORPHA:70578
Stuve-Wiedemann Syndrome 2
Respiratory distress, Bowing of the long bones, Congestive heart failure, Death in adolescence, S... OMIM:619751
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve... ORPHA:70589
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Facial palsy, Polyhydramnios, Micrognathia, Respiratory insufficiency due t... OMIM:300580
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ... OMIM:613642
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Abnormal pulmonary interstitial mo... ORPHA:330001
Cirrhotic Cardiomyopathy
Abnormal bleeding, Prolonged QT interval, Elevated jugular venous pressure, Left ventricular dias... ORPHA:57777
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Prolonged QRS complex, Apnea, Pericardial effusion, Shortened PR interval, ... OMIM:261740
Lymphatic Malformation 7
Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial eff... OMIM:617300
Systemic Capillary Leak Syndrome
Pericarditis, Rhinorrhea, Myocarditis, Pedal edema, Cardiorespiratory arrest, Pleural effusion, H... ORPHA:188
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Hip contracture, Skeletal muscle atrophy, Rocker bottom foot, Ankle flexion... ORPHA:1143
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Tachypnea, Capillary leak, Hypoxemia, Pleural effusion, Respiratory fai... ORPHA:542323
Pleural Mesothelioma
Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Abnormal car... ORPHA:50251
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Tachypnea, Hydrops feta... ORPHA:45452
Lethal Recessive Chondrodysplasia
Respiratory distress, Polyhydramnios, Edema, Micrognathia, Macroglossia, Short long bone, Flared ... ORPHA:1423
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... ORPHA:66529
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Cocaine Intoxication
Respiratory distress, Prolonged QRS complex, Myocardial infarction, Tachypnea, Cough, Hyperventil... ORPHA:90068
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Micrognathia, Dyspnea, Respiratory failure, Mandibular aplasia, Retrognathi... ORPHA:1832
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Recurrent respiratory infections,... ORPHA:980
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Pneumonia OMIM:254120
Recurrent Respiratory Papillomatosis
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent pneumonia, Recurrent upper... ORPHA:60032
Mogs-Cdg
Respiratory distress, Hypoventilation, Generalized edema, Apnea, Polyhydramnios, Edema, Left vent... ORPHA:79330
Gaucher Disease Type 2
Respiratory distress, Recurrent respiratory infections, Cardiac arrest, Flexion contracture, Coug... ORPHA:77260
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Tongue edema, Palpebral edema, Pharyngeal edema, Facial edema, Laryngeal ed... ORPHA:100057
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Tricuspid regurgitation, Congestive heart failure, Chronic pulmonary obstru... ORPHA:2414
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Camptodactyly of finger, Facial palsy, Increased variability in muscle fibe... OMIM:614399
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress, Polymicrogyria ORPHA:171703
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Ovarian Hyperstimulation Syndrome
Generalized edema, Hypovolemia, Capillary leak, Peripheral edema, Pleural effusion, Ascites, Pulm... ORPHA:64739
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Intracranial hemorrhage, Cough, Ecchymosis, Internal hemorrhage, Hypotensio... ORPHA:340
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Recurrent viral pneu... OMIM:619773
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Dy... ORPHA:86812
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Clubbing, ... OMIM:610913
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Congestive heart fa... ORPHA:31826
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Interstitial Lung Disease 2
Dyspnea, Clubbing of fingers, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neut... OMIM:178500
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ty... OMIM:605809
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Mandibular prognathia, Skeletal muscle atrophy, Cerebral ... OMIM:620278
Odontochondrodysplasia 1
Respiratory distress, Recurrent respiratory infections, Short metacarpal, Brachydactyly, Death in... OMIM:184260
Perching Syndrome
Respiratory distress, Joint contracture, Camptodactyly OMIM:617055
Odontochondrodysplasia
Respiratory distress, Death in infancy, Bowing of the long bones, Delayed eruption of teeth, Coxa... ORPHA:166272
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Skeletal muscle atrophy, Paradoxical respiration, Plantar flexion contractu... OMIM:620011
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Hip contracture, Skeletal muscle atrophy, Interphalangeal joint contracture... ORPHA:1145
Bardet-Biedl Syndrome 16
Bronchiolitis, Recurrent respiratory infections, Polydactyly, Respiratory distress OMIM:615993
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Skeletal muscle atrophy, Increased variability in muscle fiber diameter, Re... ORPHA:238329
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Respiratory failure requiring assisted ventilation, Death in infancy, Nemaline bodies, Increased ... OMIM:620265
Idiopathic Bronchiectasis
Myocardial infarction, Crackles, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Clubb... ORPHA:60033
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Crazy pavi... ORPHA:264675
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Dyspnea, Tachypnea, Abnormal pulmonary interstitial morphology, Restrictive ventilatory defect, A... OMIM:616414
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Low-output congestive heart failure, Hypertrophic cardiomyopathy, Myopathy ORPHA:91130
Myopathy And Diabetes Mellitus
Respiratory distress, Distal lower limb amyotrophy, Achilles tendon contracture, Proximal amyotro... ORPHA:2596
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Polyhydramnios, Centrally nucleated skeletal muscle fiber... OMIM:300219
Acute Lung Injury
Shock, Respiratory distress, Pneumonia, Edema, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, A... ORPHA:178320
Hellp Syndrome
Pulmonary edema, Cerebral hemorrhage, Prolonged prothrombin time, Hypotension, Pleural effusion, ... ORPHA:244242
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Asbestos Intoxication
Edema, Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on... ORPHA:2302
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Clinodactyly, Joint dislocation, Micrognathia OMIM:300934
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... ORPHA:596
Staphylococcal Necrotizing Pneumonia
Shock, Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Ac... ORPHA:36238
Slc35A1-Cdg
Abnormal bleeding, Prolonged bleeding time, Respiratory distress, Pneumonia, Hypoxemia, Subcutane... ORPHA:238459
Afibrinogenemia, Congenital
Abnormal bleeding, Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleed... OMIM:202400
Scorpion Envenomation
Bundle branch block, Tachycardia, Pulmonary edema, Cardiac conduction abnormality, Edema, Congest... ORPHA:466677
Japanese Encephalitis
Respiratory distress, Irregular respiration, Skeletal muscle atrophy, Genu recurvatum, Facial pal... ORPHA:79139
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... ORPHA:137675
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Respiratory failure requiring assisted ventilation, Ragged-red muscle fiber... ORPHA:254864
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea, Micrognathia, Temporomandibular joint ankylosis, Dental malocclusion... OMIM:614669
Ogden Syndrome
Congenital hip dislocation, Apnea, Lymphedema, Micrognathia, Ventricular tachycardia, Clinodactyl... OMIM:300855
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency... ORPHA:254875
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu... OMIM:263000
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Death in infancy, Polymicrogyria, Left ventricular hypertrophy OMIM:616974
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Distal amyotrophy OMIM:619099
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Recurrent respiratory infections, Arachnodactyly, Polyhydramnios, Missing r... ORPHA:2759
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumo... OMIM:265120
Larsen-Like Syndrome, Lethal Type
Joint dislocation, Multiple joint dislocation, Respiratory insufficiency, Neonatal death, Pulmona... OMIM:245650
Meconium Aspiration Syndrome
Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Abnormal heart rate... ORPHA:70588
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Flexion contracture, Hypertension, Pulmonary hypoplasia, Left ventricular h... OMIM:616733
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Cardiomyopathy, Myopathy ORPHA:26792
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Clu... OMIM:619611
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Pulmonary edema OMIM:105210
Cardiomyopathy, Familial Hypertrophic, 16
Orthopnea, Atrial fibrillation, Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bund... OMIM:613838
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Pneumothorax, Chronic pulmonary ob... ORPHA:411703
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary... ORPHA:79127
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... ORPHA:1303
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Radial bowing, Dumbbell-shaped long bone, Polyhydramnios, Hypoplastic ilia,... OMIM:151210
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... ORPHA:140896
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Congestive heart failure, Nonprod... ORPHA:454836
Peripartum Cardiomyopathy
Crackles, Ventricular tachycardia, Left bundle branch block, Pedal edema, Abnormal T-wave, Dilate... ORPHA:563
Diaphanospondylodysostosis
Respiratory distress, Narrow pelvis bone, Abnormal vertebral segmentation and fusion, Missing ribs ORPHA:66637
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Death in infancy, Neonatal respiratory distress, Micrognathia, Congenital c... OMIM:615042
Tetrasomy 5P
Respiratory distress, Recurrent respiratory infections, Overlapping toe, Short hallux, Micrognath... ORPHA:3309
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Microretrognathia, 4-layered lissencephaly, Rocker bottom foot, Abnormality... ORPHA:89844
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, First degree atrioventricular block, Supraventricular tachycardia, ... ORPHA:99105
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Decreased muscle mass, Congenital hip dislocation, Arachnodactyly, Rocker b... OMIM:271225
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers,... OMIM:613561
Laryngotracheal Angioma
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Ankle flexion contracture, Micrognathia, Small hand, Upper limb undergrowth... OMIM:608799
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Cerebral hemo... OMIM:619897
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Pneumothora... ORPHA:1302
Radio-Renal Syndrome
Respiratory distress, Micrognathia, Dyspnea, Hypoplasia of the radius, Abnormal rib morphology, A... ORPHA:3015
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Moebius Syndrome
Respiratory distress, Syndactyly, Brachydactyly, Micrognathia, Split hand, Congenital fibrosis of... OMIM:157900
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Skeletal muscle atrophy, Nonimmune hydrops fetalis, Polyhydramnios, Portal ... ORPHA:367
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... OMIM:610978
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Mandibular prognathia, Abno... ORPHA:98915
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Anomalous origin of one pulmonary artery from ascending aorta,... ORPHA:3384
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Polyhydramnios, Hypoplastic ilia, Wide-cupped costochondral jun... OMIM:187601
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious... OMIM:617102
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Syndactyly, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radi... OMIM:617895
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se... ORPHA:99106
Familial Nasal Acilia
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress, Joint contracture OMIM:617977
Arthrogryposis Multiplex Congenita 6
Death in infancy, Polyhydramnios, Respiratory failure, Death in childhood, Neonatal death, Increa... OMIM:619334
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Dyspnea, Abnormal cardiovascular system physiology, Heart murmur, Pedal ... ORPHA:422
Chitayat Syndrome
Hallux valgus, Recurrent respiratory infections, Respiratory distress, Polyhydramnios, Abnormal p... OMIM:617180
Nipah Virus Disease
Respiratory distress, Recurrent pharyngitis, Hypotension, Cough ORPHA:99825
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Intercostal retractions, Crackles, Right ventricu... ORPHA:1329
Sarcoidosis, Susceptibility To, 2
Facial palsy, Dyspnea, Pneumothorax, Clubbing, Bronchiectasis, Abnormal pulmonary interstitial mo... OMIM:612387
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Polyhydramnios, Micrognathia, Flexion contracture, Generalized amyotrophy, ... OMIM:620369
Carnitine Deficiency, Systemic Primary
Respiratory distress, Congestive heart failure, Dehydration, Cardiomyopathy, Mitral regurgitation... OMIM:212140
Congenital Diaphragmatic Hernia
Respiratory distress, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Hypox... ORPHA:2140
Succinic Acidemia
Respiratory distress OMIM:600335
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Edema, Pulmonary embolism, Congestive heart... ORPHA:90308
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Facial hypotonia, Respi... ORPHA:308552
Acquired Methemoglobinemia
Respiratory distress, Tachycardia, Dyspnea, Hypoxemia, Syncope, Palpitations, Arrhythmia ORPHA:464453
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... OMIM:211530
Kniest Dysplasia
Respiratory distress, Hip contracture, Enlarged joints, Dumbbell-shaped long bone, Delayed epiphy... OMIM:156550
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Upper airway obstruction, Abnormal skeletal muscle morphology, Neo... ORPHA:142
Achondroplasia
Respiratory distress, Death in infancy, Brachydactyly, Radial bowing, Short femur, Polyhydramnios... OMIM:100800
Diaphanospondylodysostosis
Respiratory distress, Missing ribs, Micrognathia, Increased nuchal translucency, Respiratory insu... OMIM:608022
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy, Cardiac arrest, Myopathy, Increased variability in muscle... OMIM:604377
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Edema of the dorsum of feet, Tapered finger, Edema of the dorsum of hands, ... ORPHA:544503
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Pericar... ORPHA:79126
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Edema of the dorsum of feet, Ankle swelling, Increased pulmonary vascula... ORPHA:275766
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Dyspnea, Concentric hypertrophic cardiomyopathy, Right bund... OMIM:613243
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Dilated cardiomyopathy, Tachypnea, Respiratory insufficie... OMIM:614299
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Ankle swelling, Cra... ORPHA:99095
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Congestive heart failure, Wide anterior fontanel, Tibial bow... OMIM:616482
Restrictive Dermopathy 2
Respiratory distress, Microretrognathia, Overtubulated long bones, Short clavicles OMIM:619793
Congenital Fibrinogen Deficiency
Abnormal bleeding, Tachycardia, Internal hemorrhage, Prolonged prothrombin time, Clubbing of fing... ORPHA:335
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Myotonic Dystrophy 1
Respiratory distress, Atrial flutter, Atrial fibrillation, Polyhydramnios, First degree atriovent... OMIM:160900
Inhalational Anthrax
Respiratory distress, Dyspnea, Internal hemorrhage, Hypotension ORPHA:247257
Chronic Pneumonitis Of Infancy
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... ORPHA:91359
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Axial muscle stiffness ORPHA:240085
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Delayed epiphyseal ossification, Macroglossia, Abnormal epiphysis morpholog... ORPHA:226313
Hereditary Angioedema Type 1
Respiratory distress, Tongue edema, Intestinal edema, Pharyngeal edema, Edema of the dorsum of ha... ORPHA:100050
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Dyspnea, Ventricular t... OMIM:612098
Osteogenesis Imperfecta, Type X
Respiratory distress, Multiple rib fractures, Bowing of the long bones, Short femur, Micrognathia... OMIM:613848
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Respiratory distress, Edema, Polyhydra... ORPHA:363705
Microlissencephaly-Micromelia Syndrome
11 pairs of ribs, Respiratory distress, Palpebral edema, Polyhydramnios, Lissencephaly, Adducted ... ORPHA:50810
Pulmonary Arteriovenous Malformation
Abnormal bleeding, Transient ischemic attack, Epistaxis, Myocardial infarction, Cough, Dyspnea, C... ORPHA:2038
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Death in infancy, Micrognathia, Tachypnea, Simplified gyral pattern, Hypertension, Mitral regurgi... OMIM:220111
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Pul... ORPHA:73224
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Micrognathia, Oligohydramnios ORPHA:261304
Tularemia
Respiratory distress, Tachycardia, Pneumonia, Cough, Pleural effusion ORPHA:3392
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Congest... ORPHA:439
Choanal Atresia
Respiratory distress, Recurrent respiratory infections, Craniosynostosis, Upper airway obstructio... ORPHA:137914
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Syndactyly, Neonatal respiratory distress, Proximal placement of thumb, Mic... OMIM:217980
Meier-Gorlin Syndrome 1
Respiratory distress, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Flat glenoid foss... OMIM:224690
Congenital Myasthenic Syndrome
Microretrognathia, Recurrent respiratory infections, Congenital hip dislocation, Sudden episodic ... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Microretrognathia, Recurrent respiratory infections, Congenital hip dislocation, Sudden episodic ... ORPHA:98914
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Pedal edema, Abnormal left ventricular ... ORPHA:99103
Malaria
Respiratory distress ORPHA:673
Aortic Arch Interruption
Aortic regurgitation, Shock, Respiratory distress, Tricuspid regurgitation, Blood pressure substa... ORPHA:2299
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Postaxial hand polydactyly, Abnormal rib morphology, Broad ribs, Short ribs... ORPHA:2519
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Multiple joint contractures, Micrognathia, Metaphyseal widening, Multiple j... ORPHA:536467
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Nonimmune hydrops fetalis, Polyhydramnios, Micrognathia, Retrognathi... OMIM:608013
Cleidocranial Dysplasia 1
Respiratory distress, Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of ... OMIM:119600
Eisenmenger Syndrome
Respiratory distress, Ventricular tachycardia, Pedal edema, Aortopulmonary window, Supraventricul... ORPHA:97214
Shwachman-Diamond Syndrome 1
Respiratory distress, Myocardial necrosis, Neonatal respiratory distress, Anterior rib cupping, M... OMIM:260400
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Respiratory distress, Tachycardia, Exercise-induced rhabdomyolysis, Pneumo... ORPHA:26793
Arterial Tortuosity Syndrome
Respiratory distress, Myocardial infarction, Coxa vara, Clinodactyly of the 5th finger, Arachnoda... ORPHA:3342
Tetanus
Respiratory distress, Tachycardia, Trismus, Tachypnea, Hypertension, Bradycardia ORPHA:3299
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Cardiomyopathy, Dehydration ORPHA:79312
Congenital Enterovirus Infection
Abnormal bleeding, Respiratory distress, Polyhydramnios, Fetal ascites, Pericardial effusion, Myo... ORPHA:292
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Recurrent respiratory infections, Congestive heart failure, Recurrent bronc... OMIM:617303
Mercury Poisoning
Respiratory distress, Tachycardia, Dyspnea, Hypertension, Interstitial pneumonitis, Respiratory f... ORPHA:330021
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Prominent metopic ridge, Apnea, Micrognathia, Recurrent pn... ORPHA:314655
Lujo Hemorrhagic Fever
Shock, Respiratory distress, Generalized edema, Crackles, Excessive bleeding after a venipuncture... ORPHA:319213
3-Methylglutaconic Aciduria, Type Viib
Abnormal bleeding, Respiratory distress, Polyhydramnios, Micrognathia, Congestive heart failure, ... OMIM:616271
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Campomelic Dysplasia
Respiratory distress, Apnea, Anterior tibial bowing, Polyhydramnios, Micrognathia, Delayed epiphy... OMIM:114290
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Wide anterior fontanel, Pulmonary hypoplasia, Neonatal death, Pachygyria OMIM:231680
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Recurrent respiratory infections, Overlapping toe, Flexion contracture, Ove... OMIM:619383
Scimitar Syndrome
Respiratory distress, Recurrent respiratory infections, Left-to-right shunt, Abnormal hemidiaphra... ORPHA:185
Farber Disease
Respiratory distress, Abnormality of the knee, Skeletal muscle atrophy, Nodular pattern on pulmon... ORPHA:333
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Skeletal muscle atrophy, Respiratory insufficiency due to... OMIM:615512
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia... OMIM:606763
Agnathia-Otocephaly Complex
Respiratory distress, Polyhydramnios, Micrognathia, Pulmonary hypoplasia, Tracheomalacia, Mandibu... OMIM:202650
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Short humerus, Short femur, Sandal gap, Polyhydramnios, Edema, Recurrent up... OMIM:607143
Bacterial Toxic-Shock Syndrome
Shock, Respiratory distress, Tachycardia, Sinusitis, Myositis, Pneumonia, Edema, Respiratory trac... ORPHA:36234
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Dyspnea, Ventricular tachycardia, Palpitations, Left ventri... OMIM:613873
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Flexion contracture, Lower limb muscle weakness, Glycogen accumulation in m... ORPHA:365
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Joint swelling, Fused cervical vertebrae, Pulmonary fibrosis, Flaring of ri... OMIM:612852
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Hypoglossia With Situs Inversus
Respiratory distress, Upper airway obstruction, Micrognathia OMIM:612776
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Recurrent respiratory infections, Polyhydramnios, Micrognathia, Dental malo... ORPHA:329178
Congenital Tracheomalacia
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... ORPHA:95430
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Arachnodactyly, Micrognathia, Dyspnea, Respiratory failure, Retrognathia ORPHA:2707
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Tricuspid regurgitation, Short femur, Pneumothorax, Pulmonary hypoplasia, S... OMIM:620306
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Wide cranial sutures, Short femur, Metaphyseal spurs, Polyhydramnios, Undul... OMIM:618188
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Incr... OMIM:220110
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Cardiomyopathy, Cerebellar hemorrhage, Dehydration OMIM:251000
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Oculopharyngodistal Myopathy 1
Respiratory distress, Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Hypercap... OMIM:164310
Osteoglophonic Dysplasia
Respiratory distress, Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Eruptio... OMIM:166250
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Isolated Atp Synthase Deficiency
Respiratory distress, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia ORPHA:254913
Liver Disease, Severe Congenital
Pneumonia, Micrognathia, Abnormal left ventricular function, Cough, Status asthmaticus, Ascites, ... OMIM:619991
Thyroid Lymphoma
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction ORPHA:97285
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Death in childhood OMIM:615597
N-Acetylglutamate Synthase Deficiency
Respiratory distress OMIM:237310
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Skeletal muscle atrophy, Pulmonary embolism, Intracranial hemorrhage, Cough... ORPHA:3260
Ear-Patella-Short Stature Syndrome
Respiratory distress, Camptodactyly of finger, Aplastic clavicle, Micrognathia, Hypoplasia of the... ORPHA:2554
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Pulmonary arterial hypertension, Bradycardia, Skeletal muscle atrophy OMIM:619272
Rhabdoid Tumor
Hypertension, Internal hemorrhage, Respiratory insufficiency ORPHA:69077
Oromandibular Dystonia
Respiratory distress, Torticollis, Abnormality of the temporomandibular joint, Abnormal mandible ... ORPHA:93958
Colchicine Poisoning
Respiratory distress, Myocarditis, Congestive heart failure, Hypovolemia, Dehydration, Cardioresp... ORPHA:31824
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Cerebral ischemia ORPHA:927
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Tachycardia, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Ap... ORPHA:348
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Periventricular heterotopia, Knee flexion contracture, Calf muscle hypertro... OMIM:618733
Pfeiffer Syndrome Type 2
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall... ORPHA:93259
Nasolacrimal Duct Cyst
Intercostal retractions, Periorbital edema, Episodic respiratory distress, Stridor, Paroxysmal dy... ORPHA:141083
Atrial Septal Defect, Coronary Sinus Type
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... ORPHA:99104
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Hypoglycosylation of alpha-dystroglycan, Respiratory failure OMIM:620166
Sepsis In Premature Infants
Abnormal bleeding, Tachycardia, Abnormal mucociliary clearance, Edema, Dyspnea, Nasal flaring, Ab... ORPHA:90051
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Limited elbow movement, Hip dislocation, Flattened epiphysis, Coxa vara, Re... OMIM:183900
Acquired Purpura Fulminans
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage ORPHA:49566
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Respiratory distress, Tricuspid regurgitation, Sandal gap, Small ha... OMIM:612863
Wiskott-Aldrich Syndrome
Prolonged bleeding time, Recurrent respiratory infections, Recurrent intrapulmonary hemorrhage, S... ORPHA:906
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Recurrent respiratory infections, Abnormal cortical gyration, Postaxial pol... OMIM:300968
Diamond-Blackfan Anemia 10
Respiratory distress, Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia, Micrognathi... OMIM:613309
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Congenital diaphragmatic hernia, Micrognathia OMIM:606164
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress ORPHA:289916
Episodic Ataxia Type 1
Respiratory distress, Calf muscle hypertrophy ORPHA:37612
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial fibrillation, A... ORPHA:1677
Q Fever
Respiratory distress, Pericarditis, Pneumonia, Pericardial effusion, Myocarditis, Vasculitis, Abn... ORPHA:781
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Polyhydramnios, Postaxial polydactyly, Postaxial hand polydactyly, Supernum... OMIM:617088
Stüve-Wiedemann Syndrome
Respiratory distress, Bowing of the long bones, Apnea, Camptodactyly of finger, Trismus, Metaphys... ORPHA:3206
Pfeiffer Syndrome Type 3
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall... ORPHA:93260
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Mandibular aplasia, Polyhydramnios ORPHA:990
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... ORPHA:75565
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Proximal placement of thumb, Micrognathia, Preaxial hand polydactyly, Slend... OMIM:610536
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Recurrent respiratory infections, Short humerus, Short femur, Apnea, Skelet... ORPHA:17
Mgat2-Cdg
Abnormal bleeding, Respiratory distress, Hydrops fetalis, Arrhythmia, Reflex asystolic syncope, R... ORPHA:79329
Ulbright-Hodes Syndrome
Respiratory distress, Short humerus, Short metacarpal, Micrognathia, Pneumothorax, Humeroradial s... ORPHA:3404
Infantile Krabbe Disease
Respiratory distress, Abnormal heart rate variability, Ankle clonus, Respiratory failure, Shoulde... ORPHA:206436
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Flexion contracture OMIM:618201
Brain-Lung-Thyroid Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Asthma, Re... ORPHA:209905
Stt3B-Cdg
Respiratory distress ORPHA:370924
Coccidioidomycosis
Respiratory distress, Pericarditis, Pneumonia, Cough, Vasculitis, Abnormal long bone morphology, ... ORPHA:228123
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Increased variability in muscle fiber diameter, Stridor OMIM:615595
Auriculocondylar Syndrome
Respiratory distress, Abnormality of the temporomandibular joint, Micrognathia, Dental malocclusi... ORPHA:137888
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Recurrent respiratory infections, Tachycardia, Tricuspid regurgitation, Con... ORPHA:505248
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Hypertension, Hypoplasia of the zygomatic bone, Craniosynostosis ORPHA:1555
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Facial hypotonia, Cardiac conduction abnormality, Dehydration, Aspir... ORPHA:2131
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Recurrent respiratory infections, Overlapping toe, Micrognathia, Carious te... ORPHA:177907
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea ORPHA:79242
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Natal tooth, Overlapping toe, Craniosynostosis, Hypertension, Limited elbow... OMIM:123790
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Recurrent respiratory infections, Respiratory distress, Abnormal ple... ORPHA:537
Arboleda-Tham Syndrome
Respiratory distress, Mandibular prognathia, Recurrent aspiration pneumonia, Genu varum, Microret... OMIM:616268
Leptospirosis
Respiratory distress, Pericarditis, First degree atrioventricular block, Rhabdomyolysis, Retinal ... ORPHA:509
Cryptococcosis
Respiratory distress, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Limb muscle weakness... ORPHA:1546
Esophageal Atresia
Respiratory distress, Recurrent respiratory infections, Bronchitis, Polyhydramnios, Laryngotrache... ORPHA:1199
Rubinstein-Taybi Syndrome 1
Respiratory distress, Polyhydramnios, Micrognathia, Hypoplasia of the maxilla, Flexion contractur... OMIM:180849
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Death in infancy, Polyhydramnios, Congestive heart failure, Ascites OMIM:617156
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Pericar... ORPHA:99827
Congenital Tracheal Stenosis
Respiratory distress, Fetal ascites, Polyhydramnios, Neonatal asphyxia, Abnormal lung morphology,... ORPHA:141127
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Apnea, Hypopnea, Death in ... OMIM:618426
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... OMIM:187300
Primary Dystonia, Dyt4 Type
Respiratory distress, Torticollis ORPHA:98805
Schinzel-Giedion Syndrome
Respiratory distress, Delayed eruption of teeth, Overlapping fingers, Overlapping toe, Micrognath... ORPHA:798
Listeriosis
Respiratory distress, Pericarditis, Miscarriage, Pneumonia, Myocarditis, Congestive heart failure... ORPHA:533
Adnp Syndrome
Respiratory distress, Broad hallux, Sandal gap, Abnormal toe morphology, Recurrent upper respirat... ORPHA:404448
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Facial hypotonia, Incisor macrodontia ORPHA:438216
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Edema, Abnormal fingertip morphology, Dyspnea, Dilated cardiomyo... ORPHA:79404
Gitelman Syndrome
Prolonged QT interval, Respiratory distress, Raynaud phenomenon, Pericardial effusion, Rhabdomyol... ORPHA:358
Nocardiosis
Respiratory distress, Pericarditis, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pn... ORPHA:31204
Pachyonychia Congenita
Respiratory distress, Advanced eruption of teeth, Natal tooth ORPHA:2309
Generalized Arterial Calcification Of Infancy
Respiratory distress, Abnormality of the knee, Transient ischemic attack, Edema, Polyhydramnios, ... ORPHA:51608
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Hydrops fe... ORPHA:79282
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Long toe, Respiratory distress, Congenital hip dislocation, Short fe... ORPHA:508488
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Transient ischemic attack, Myocardial infarction OMIM:274150
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Tricuspid regurgitation, Abnormal dental enamel morphology, Congenital diap... ORPHA:2556
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Cardiac conduction abnormality, Dyspnea, Dilated cardiomyopathy, Episodic respiratory dist... ORPHA:255210
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Dehydration OMIM:251110
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Overlapping toe, Arachnodactyly, Micrognathia, Contracture of the distal in... ORPHA:83617
Biotinidase Deficiency
Respiratory distress, Limb muscle weakness, Apnea, Hyperventilation ORPHA:79241
Marburg Hemorrhagic Fever
Abnormal bleeding, Shock, Tachycardia, Pericarditis, Excessive bleeding after a venipuncture, Non... ORPHA:99826
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Metaphyseal chondromatosis of tibia, Metaphyseal dysplasia, Respiratory distress, Irregular iliac... ORPHA:99646
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Recurrent respiratory infections, Tachycardia, Tricuspid regurgitation, Res... ORPHA:99125
Doors Syndrome
11 pairs of ribs, Respiratory distress, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Polyh... ORPHA:79500
Craniorachischisis
Bifid sternum, Congenital diaphragmatic hernia ORPHA:63260
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Dehydration OMIM:251100
Ramos-Arroyo Syndrome
Respiratory distress, Carious teeth, Xerostomia ORPHA:1051
Plague
Abnormal bleeding, Respiratory distress, Tachycardia, Edema, Hematemesis, Abnormality of the elbo... ORPHA:707
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Bilateral trilobed lung, Congenital hip dislocation, Block vertebrae, Polyh... OMIM:306955
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Pulmonary arterial hypertension, Aortic valve stenosis ORPHA:210122
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Recurrent respiratory infections, Myositis, Pneumonia, Interstitial pneumon... ORPHA:37042
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Recurrent respiratory infections, Facial hypotonia, Small hand, Intrinsic h... OMIM:615273
Kasabach-Merritt Syndrome
Respiratory distress, Hypopnea, Prolonged prothrombin time, Petechiae, Purpura ORPHA:2330
Coffin-Lowry Syndrome
Mandibular prognathia, Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, ... OMIM:303600
Superficial Siderosis
Abnormal bleeding, Lower limb muscle weakness, Subarachnoid hemorrhage, Persistent bleeding after... ORPHA:247245
Tuberous Sclerosis Complex
Respiratory distress, Respiratory tract infection, Hypertension, Respiratory failure, Internal he... ORPHA:805
Rodrigues Blindness
Nasal flaring OMIM:268320
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Hallux valgus, Respiratory distress, Congenital hip dislocation, Overlapping toe, Abnormal cortic... ORPHA:480880
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Congenital diaphragmatic hernia, Pulmonary artery stenosis, Cervical ribs, ... ORPHA:2255
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress, Skeletal muscle atrophy, Ascites OMIM:256810
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Hypoplasia of the maxilla, Rhinitis, Taurodontia OMIM:305100
Isolated Arrhinia
Respiratory distress, Hypoplasia of the nasal bone ORPHA:1134
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Asthma, Brachydactyly, Nasal flaring, Short palm ORPHA:466943
Yellow Fever
Abnormal bleeding, Shock, Supraventricular arrhythmia, Excessive bleeding after a venipuncture, H... ORPHA:99829
Pmm2-Cdg
Respiratory distress, Mandibular prognathia, Pericarditis, Multiple joint contractures, Angina pe... ORPHA:79318
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Abnormal p... OMIM:614748
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Xerostomia, ... ORPHA:95455
Vascular Ehlers-Danlos Syndrome
Abnormal bleeding, Joint dislocation, Congenital hip dislocation, Telangiectasia of the skin, Tra... ORPHA:286
Alström Syndrome
Respiratory distress, Abnormality of dental color, Portal hypertension, Congestive heart failure,... ORPHA:64

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 Zfand5

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 Zfand5.

No publications found that use IMPC mice or data for Zfand5.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Zfand5tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Zfand5tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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