Gene Summary

Name:
transmembrane and tetratricopeptide repeat containing 3
Synonyms:
9130014E20Rik,  B130008E12Rik,  mSmile

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Tmtc3tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
increased heart rate variability Tmtc3tm1b(EUCOMM)Wtsi HET Early adult 8.87×10-08
abnormal sinus arrhythmia Tmtc3tm1b(EUCOMM)Wtsi HET Early adult 7.83×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote Ambiguous
Bone N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote Not available
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 100% (2 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote Not available
Vas deferens N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Heart atrium N/A heterozygote 100% (2 of 2)
Axial skeleton N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
Cranium N/A heterozygote 100% (2 of 2)
Dorsal root ganglion N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 100% (2 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Outer ear N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Femur pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 100% (2 of 2)
Forearm N/A heterozygote 100% (2 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Fronto-nasal process N/A heterozygote 100% (2 of 2)
Gut N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 100% (2 of 2)
Head mesenchyme N/A heterozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart ventricle N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Humerus pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Inner ear N/A heterozygote 100% (2 of 2)
Intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 100% (2 of 2)
Lower leg N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Mandibular process N/A heterozygote 100% (2 of 2)
Maxillary process N/A heterozygote 100% (2 of 2)
Mesonephros of female N/A heterozygote 50% (1 of 2)
Mesonephros of male N/A heterozygote 50% (1 of 2)
Metanephros N/A heterozygote 100% (2 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Nasal septum N/A heterozygote 100% (2 of 2)
Nose N/A heterozygote 100% (2 of 2)
Notochord N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote 100% (2 of 2)
Outflow tract N/A heterozygote 100% (2 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
N/A heterozygote 100% (2 of 2)
Pharynx N/A heterozygote 100% (2 of 2)
Radius-ulna pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Rib pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Skeleton N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 100% (2 of 2)
Tail N/A heterozygote 100% (2 of 2)
Thoracic vertebral cartilage condensation N/A heterozygote 100% (2 of 2)
Tongue N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Trunk mesenchyme N/A heterozygote 100% (2 of 2)
Umbilical artery embryonic part N/A heterozygote 100% (2 of 2)
Umbilical vein embryonic part N/A heterozygote 100% (2 of 2)
Upper arm N/A heterozygote 100% (2 of 2)
Upper leg N/A heterozygote 100% (2 of 2)
Urinary system N/A heterozygote 100% (2 of 2)
Vibrissa N/A heterozygote 100% (2 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric lymph node
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vas deferens Unavailable
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
atrium Ambiguous
axial skeleton Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
cranium Ambiguous
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
external ear Ambiguous
eye 0.0%
femur pre-cartilage condensation Ambiguous
footplate 0.0%
forearm Ambiguous
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
gut Ambiguous
handplate 0.0%
head 0.0%
head mesenchyme Ambiguous
heart 0.0%
heart ventricle Ambiguous
hindbrain 0.0%
hindlimb 0.0%
humerus pre-cartilage condensation Ambiguous
inner ear Ambiguous
intestine Ambiguous
liver 0.0%
lower leg Ambiguous
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
mesonephros of female Ambiguous
mesonephros of male Ambiguous
metanephros Ambiguous
midbrain 0.0%
nasal septum Ambiguous
nose Ambiguous
notochord Ambiguous
oral cavity 0.0%
outflow tract Ambiguous
pancreas Ambiguous
pericardium Ambiguous
pharynx Ambiguous
radius-ulna pre cartilage condensation Ambiguous
rib pre-cartilage condensation Ambiguous
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
stomach Ambiguous
tail 0.0%
tail somite group 0.0%
thoracic vertebral cartilage condensation Ambiguous
tongue Ambiguous
trachea Ambiguous
trunk mesenchyme Ambiguous
umbilical artery embryonic part Ambiguous
umbilical vein embryonic part Ambiguous
upper arm Ambiguous
upper leg Ambiguous
urinary system Ambiguous
vibrissa Ambiguous

Associated Images

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

Eye Morphology

VIP of right eye

16 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Eye Morphology

VIP of left eye

16 Images

Eye Morphology

VIP of left fundus

16 Images

X-ray

XRay Images Forepaw

10 Images

Eye Morphology

VIP of right fundus

16 Images

Adult LacZ

LacZ Images Wholemount

13 Images

MicroCT E18.5

Embryo reconstruction

4 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

4 Images

Human diseases caused by Tmtc3 mutations

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

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

The table below shows human diseases associated to Tmtc3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Periventricular Nodular Heterotopia
Aortic regurgitation ORPHA:98892
Lissencephaly 8
OMIM:617255

The table below shows human diseases predicted to be associated to Tmtc3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Arrhythmia, Sudden cardiac death OMIM:212500
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death OMIM:107970
Cardiomyopathy, Dilated, 2I
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac... OMIM:620462
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... OMIM:617280
Larynx Atresia
Short stature, Recurrent respiratory infections, Respiratory insufficiency ORPHA:1202
Interstitial Pneumonitis, Desquamative, Familial
Recurrent upper respiratory tract infections, Cyanosis, Type II pneumocyte hypertrophy, Desquamat... OMIM:263000
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency OMIM:253300
Immunodeficiency 95
Recurrent respiratory infections, Recurrent viral upper respiratory tract infections, Respiratory... OMIM:619773
Combined Oxidative Phosphorylation Deficiency 51
Severe short stature, Neonatal respiratory distress, Aspiration pneumonia, Intrauterine growth re... OMIM:619057
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure OMIM:609909
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Atrial Fibrillation, Familial, 15
Supraventricular tachycardia, Atrial fibrillation, Sudden cardiac death, Atrial flutter OMIM:615770
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Catecholaminergic Polymorphic Ventricular Tachycardia
Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation... ORPHA:3286
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Palpitations, Permanent atrial fibrillation, Syncope, Prolonged Q... OMIM:613980
Cardiomyopathy, Familial Hypertrophic, 12
Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular tachycardia, Reduced lef... OMIM:612124
Ventricular Tachycardia, Familial
Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy OMIM:192605
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Premature ventricular contraction, Syncope, Ventricular tachycardia, Ventricular fibrillation, Ca... OMIM:614916
Infant Acute Respiratory Distress Syndrome
Pneumonia, Atelectasis, Respiratory tract infection, Cyanosis, Pulmonary edema, Hypoxemia, Respir... ORPHA:70587
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar... OMIM:265120
Long Qt Syndrome 5
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... OMIM:613695
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... OMIM:604400
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitations, Permanent atrial fib... OMIM:611493
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Oxygen d... ORPHA:2302
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... OMIM:604772
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Atelectasis OMIM:615294
Surfactant Metabolism Dysfunction, Pulmonary, 2
Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos... OMIM:610913
Short Qt Syndrome 2
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... OMIM:609621
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Congenital Pulmonary Airway Malformation
Abnormal pleura morphology, Respiratory insufficiency ORPHA:2444
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
Cardiomyopathy, Dilated, 1G
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... OMIM:604145
Brugada Syndrome 1
Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco... OMIM:601144
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Immunodeficiency 54
Respiratory insufficiency, Postnatal growth retardation, Intrauterine growth retardation, Short s... OMIM:609981
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Progressive Familial Heart Block, Type Ii
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... OMIM:140400
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Orthodeoxia, Honeycomb lung, A... ORPHA:2032
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Neonatal respiratory distress, Recurrent sinusitis, Chronic bronchitis, Resp... OMIM:608647
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Recurrent upper respiratory tract infections, Interstitial pneumonitis, Petechiae, Vasculitis in ... OMIM:620296
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor... OMIM:615441
Long Qt Syndrome 15
Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve... OMIM:616249
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Hypoxemia... ORPHA:79126
Long Qt Syndrome 6
Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio... OMIM:613693
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Respiratory failure, Aspiration pneumonia ORPHA:90117
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... ORPHA:45453
Pneumocystosis
Respiratory insufficiency, Interstitial pneumonitis, Pleural effusion, Multiple pulmonary cysts, ... ORPHA:723
Bronchopulmonary Dysplasia
Atelectasis, Emphysema, Hyperoxemia, Abnormal lung morphology, Pulmonary sequestration, Respirato... ORPHA:70589
Long Qt Syndrome 8
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... OMIM:618447
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Congenital Myopathy 21 With Early Respiratory Failure
Intrauterine growth retardation, Lipoid pneumonia, Respiratory failure OMIM:620326
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Cardiomyopathy, Dilated, 2F
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:619747
Long Qt Syndrome 2
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... OMIM:613688
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Aborted sudden cardiac death, Polymorphic and polytopic ventricular extrasystoles, Torsade de poi... OMIM:115000
Bullous Dystrophy, Hereditary Macular Type
Severe short stature, Acrocyanosis OMIM:302000
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Pulmonary Alveolar Proteinosis, Acquired
Pneumonia, Intraalveolar phospholipid accumulation, Cyanosis, Lung abscess, Recurrent respiratory... OMIM:610910
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Cardiomyopathy, Dilated, 1E
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... OMIM:601154
Wolff-Parkinson-White Syndrome
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... OMIM:194200
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Short Qt Syndrome 1
Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud... OMIM:609620
Allergic Bronchopulmonary Aspergillosis
Emphysema, Abnormal eosinophil morphology, Bronchiectasis, Respiratory insufficiency ORPHA:1164
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... OMIM:607450
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia, Respiratory failure, Respiratory insufficiency due to muscle weak... ORPHA:2590
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Neonatal respiratory distress, Intrauterine growth retardat... ORPHA:2257
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc... OMIM:618920
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Ventricular Fibrillation, Paroxysmal Familial, 2
Premature ventricular contraction, Sudden cardiac death, Ventricular fibrillation OMIM:612956
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis OMIM:300455
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Neonatal respiratory distress, Atelectasis OMIM:267450
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti... OMIM:616726
Long Qt Syndrome 16
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia OMIM:618782
Hereditary Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati... OMIM:603830
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:300717
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Respiratory failure, Pulmonary hypoplasia OMIM:616867
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Recurrent pneumonia, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness,... ORPHA:254875
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Short stature, Respiratory failure OMIM:600561
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:619466
Laryngotracheoesophageal Cleft
Cyanosis, Recurrent respiratory infections, Neonatal respiratory distress ORPHA:2004
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Cystic Hamartoma Of Lung And Kidney
Recurrent respiratory infections, Pulmonary fibrosis, Respiratory insufficiency ORPHA:2111
Short Qt Syndrome 7
Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death OMIM:620231
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Respiratory insufficiency OMIM:611722
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Respiratory insufficiency OMIM:616081
Acute Lung Injury
Pneumonia, Diffuse alveolar hemorrhage, Abnormal pulmonary interstitial morphology, Respiratory f... ORPHA:178320
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bradycardia, Atrial fibrillation... OMIM:616201
Neuralgic Amyotrophy
Short stature, Acrocyanosis, Respiratory insufficiency ORPHA:2901
Pulmonary Hemosiderosis
Pulmonary fibrosis, Recurrent intrapulmonary hemorrhage, Respiratory insufficiency OMIM:178550
Tricuspid Atresia
Pulmonary artery atresia, Cyanosis ORPHA:1209
Congenital Pulmonary Lymphangiectasia
Pleural effusion, Cyanosis, Growth delay ORPHA:2414
Meconium Aspiration Syndrome
Neonatal asphyxia, Atelectasis, Aspiration pneumonia, Intrauterine growth retardation, Pneumothor... ORPHA:70588
Brugada Syndrome 3
Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi... OMIM:611875
Adult Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary edema, Abnormal blood gas level, Respiratory failure, Hypoxemia ORPHA:70578
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:615872
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Respiratory failure, Respiratory insufficiency ORPHA:266
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Hypoxemia, Hypersensi... ORPHA:79127
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Staphylococcal Necrotizing Pneumonia
Pneumonia, Hypoxemia, Pleural effusion, Pneumothorax, Acute infectious pneumonia, Respiratory fai... ORPHA:36238
Lethal Osteosclerotic Bone Dysplasia
Intrauterine growth retardation, Respiratory failure ORPHA:1832
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Amyotrophic Lateral Sclerosis 28
Respiratory failure OMIM:620452
Perching Syndrome
Cyanosis OMIM:617055
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... OMIM:617222
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Spondylometaphyseal Dysplasia, X-Linked
Severe short stature, Respiratory failure, Respiratory insufficiency OMIM:313420
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory failure, Respiratory insufficiency OMIM:613869
Hepatic Veno-Occlusive Disease
Jaundice, Respiratory failure ORPHA:890
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... OMIM:614022
Congenital Arthrogryposis With Anterior Horn Cell Disease
Neonatal death, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:611890
High Altitude Pulmonary Edema
Pulmonary edema, Hypoxemia, Cyanosis ORPHA:330012
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Sinus bradycardia, Sync... OMIM:163800
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Acute infectious pneumonia, Recurrent lower respiratory t... ORPHA:60033
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Bilateral lung agenesis, Respiratory insufficiency OMIM:601612
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Facial erythema OMIM:618307
Congenital Myopathy 10A, Severe Variant
Respiratory failure, Respiratory insufficiency OMIM:614399
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Respiratory insufficiency, Recurrent res... ORPHA:3348
Idiopathic Pulmonary Hemosiderosis
Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Nodular pattern on pulmonary HR... ORPHA:99931
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho... OMIM:108950
Sarcoidosis, Susceptibility To, 2
Emphysema, Hypoxemia, Pleural effusion, Pneumothorax, Abnormal pulmonary interstitial morphology,... OMIM:612387
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Interlobular septal thickening, Pleural effusion, Hemothorax, Cyanos... ORPHA:199241
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Scedosporiosis
Pneumonia, Bronchitis, Pulmonary fibrosis, Pleuritis, Respiratory failure, Pleural empyema ORPHA:449280
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
C1Q Deficiency 2
Atelectasis, Facial erythema, Vasculitis in the skin, Recurrent lower respiratory tract infection... OMIM:620321
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Recurrent Respiratory Papillomatosis
Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Respiratory insuf... ORPHA:60032
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Atelectasis, Pulmonary situs ambiguus, Respiratory tract infection... ORPHA:244
Cryptogenic Organizing Pneumonia
Hypoxemia, Pneumothorax, Cyanosis ORPHA:1302
Nemaline Myopathy 8
Respiratory failure OMIM:615348
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Respiratory insufficiency, Intrauterine growth retardation, Neonat... OMIM:245400
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Short stature OMIM:210050
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Hypoxemia, Intraalveolar phospholipid accumulation, Cyanosis ORPHA:747
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Idiopathic Chronic Eosinophilic Pneumonia
Atelectasis, Generalized abnormality of skin, Hypereosinophilia, Pleural effusion, Hypersensitivi... ORPHA:2902
Congenital Tricuspid Valve Dysplasia
Intrauterine growth retardation, Cyanosis, Respiratory failure, Hypoxemia, Anomalous pulmonary ve... ORPHA:555874
Nephronophthisis 2
Respiratory insufficiency, Respiratory failure, Pulmonary hypoplasia OMIM:602088
Congenital Heart Block
Intrauterine growth retardation, Pleural effusion, Cyanosis ORPHA:60041
Pontocerebellar Hypoplasia, Type 4
Respiratory failure OMIM:225753
Pulmonary Alveolar Microlithiasis
Bronchitis, Interlobular septal thickening, Subpleural interstitial thickening, Respiratory insuf... ORPHA:60025
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Respiratory failure, Respiratory insufficiency OMIM:610127
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, Premature ventricular cont... OMIM:609040
Congenital Myopathy 14
Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:618414
Hyperekplexia 4
Respiratory failure OMIM:618011
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Neonatal respiratory distress, Atelectasis, Cystic pattern on pulmonary HRCT, Oxygen desaturation... OMIM:610978
Niemann-Pick Disease, Type C2
Neonatal respiratory distress, Respiratory insufficiency, Prolonged neonatal jaundice, Jaundice, ... OMIM:607625
Alpha-1-Antitrypsin Deficiency
Bronchiectasis, Panacinar emphysema, Chronic bronchitis OMIM:613490
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory failure, Respiratory insufficiency ORPHA:370968
Hypophosphatasia
Emphysema, Short stature, Respiratory insufficiency ORPHA:436
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Bronchiectasis, Atelectasis ORPHA:922
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Breath-Holding Spells
Cyanosis OMIM:607578
Mhc Class I Deficiency 1
Emphysema, Bronchiectasis, Bronchiolitis, Recurrent bronchitis OMIM:604571
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ... OMIM:611878
Deafness-Lymphedema-Leukemia Syndrome
Recurrent respiratory infections, Bruising susceptibility, Respiratory failure ORPHA:3226
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Acrocyanosis, Short stature, Growth delay ORPHA:1867
Multiple Mitochondrial Dysfunctions Syndrome 3
Intrauterine growth retardation, Respiratory failure, Respiratory insufficiency OMIM:615330
Riddle Syndrome
Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Erythema, Bronchitis, Recurrent sinusitis, Tel... ORPHA:420741
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis ORPHA:91130
Waardenburg Syndrome Type 3
Acrocyanosis, Atelectasis ORPHA:896
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Recurrent respiratory infections, Respiratory failure ORPHA:2759
Congenital Multicore Myopathy With External Ophthalmoplegia
Pneumonia, Severe postnatal growth retardation, Recurrent respiratory infections, Respiratory fai... ORPHA:98905
Phosphoserine Aminotransferase Deficiency
Cyanotic episode OMIM:610992
Avian Influenza
Pneumonia, Pleural effusion, Pneumothorax, Respiratory failure, Hypoxemia ORPHA:454836
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Short stature, Jaundice, Growth delay, Respiratory failure OMIM:250940
Car T Cell Therapy-Associated Cytokine Release Syndrome
Pulmonary edema, Hypoxemia, Pleural effusion, Respiratory failure ORPHA:542323
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Respiratory failure OMIM:616277
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Pulmonary hypoplasia OMIM:617895
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Choanal Atresia
Recurrent respiratory infections, Cyanosis ORPHA:137914
Surfactant Metabolism Dysfunction, Pulmonary, 5
Respiratory insufficiency, Intraalveolar phospholipid accumulation, Interlobular septal thickening OMIM:614370
Tetrasomy 5P
Postnatal growth retardation, Recurrent respiratory infections, Cyanosis, Pulmonary hypoplasia ORPHA:3309
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Pulmonary fibrosis ORPHA:254361
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Respiratory failure ORPHA:168486
Intermediate Nemaline Myopathy
Respiratory failure ORPHA:171433
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory insufficiency, Respiratory tract infection, Respiratory insufficiency due to muscle w... ORPHA:308552
Severe Congenital Nemaline Myopathy
Respiratory failure, Pulmonary hypoplasia ORPHA:171430
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Ne... ORPHA:95430
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis, Respiratory failure ORPHA:98913
3-Methylglutaconic Aciduria Type 7
Pneumothorax, Growth delay, Respiratory failure ORPHA:445038
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Congenital Myopathy 10B, Mild Variant
Recurrent pneumonia, Respiratory failure OMIM:620249
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology ORPHA:2357
Vacterl Association With Hydrocephalus
Stillbirth, Respiratory failure, Respiratory insufficiency OMIM:276950
Tako-Tsubo Cardiomyopathy
Atrial fibrillation, Hypotension, Cardiogenic shock, Prolonged QTc interval, Palpitations, Mitral... ORPHA:66529
Atrial Standstill 2
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Palpitations, Atrial arr... OMIM:615745
Leigh Syndrome, Nuclear
Respiratory failure, Respiratory insufficiency OMIM:256000
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure OMIM:312170
Metatropic Dysplasia
Severe short stature, Disproportionate short-limb short stature, Respiratory insufficiency, Dispr... OMIM:156530
Severe Neurodegenerative Syndrome With Lipodystrophy
Respiratory failure, Reduced subcutaneous adipose tissue ORPHA:363400
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure OMIM:619386
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure ORPHA:70472
Proximal Spinal Muscular Atrophy
Neonatal respiratory distress, Recurrent infections due to aspiration, Intercostal muscle weaknes... ORPHA:70
Ullrich Congenital Muscular Dystrophy
Respiratory failure ORPHA:75840
Mercury Poisoning
Interstitial pneumonitis, Respiratory failure ORPHA:330021
Arthrogryposis Multiplex Congenita 6
Respiratory failure, Neonatal death OMIM:619334
Neuropathy, Congenital Hypomyelinating, 3
Neonatal death, Respiratory failure, Respiratory insufficiency OMIM:618186
Pulmonary Arteriovenous Malformation
Pulmonary hemorrhage, Hemothorax, Cyanosis, Telangiectasia, Hypoxemia, Pleural empyema ORPHA:2038
Brain-Lung-Thyroid Syndrome
Recurrent pneumonia, Neonatal respiratory distress, Short stature, Abnormal pulmonary interstitia... ORPHA:209905
Kallmann Syndrome-Heart Disease Syndrome
Pulmonary artery hypoplasia, Cyanosis, Delayed puberty, Short stature, Growth delay ORPHA:2326
Snakebite Envenomation
Erythema, Respiratory failure, Angioedema, Ecchymosis ORPHA:449285
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Ventilator dependence with inability to wean, Intrauterine growth retardation, Respiratory failure OMIM:604320
Meckel Syndrome 14
Pneumothorax, Cardiorespiratory arrest, Cyanosis, Pulmonary hypoplasia OMIM:619879
Eosinophilic Granulomatosis With Polyangiitis
Respiratory insufficiency, Abnormal pleura morphology, Cutis marmorata, Purpura, Eosinophilia, Ac... ORPHA:183
Radio-Renal Syndrome
Severe short stature, Chylothorax, Pleural effusion, Respiratory failure ORPHA:3015
Hereditary Methemoglobinemia
Cyanosis ORPHA:621
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory failure, Respiratory insufficiency due to muscle weakness ORPHA:352447
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Respiratory failure ORPHA:444013
Pontocerebellar Hypoplasia Type 1
Respiratory failure ORPHA:2254
Alpha-1-Antitrypsin Deficiency
Emphysema, Jaundice, Bronchiectasis, Bronchitis ORPHA:60
Double Outlet Right Ventricle
Short stature, Pulmonary artery atresia, Cyanosis ORPHA:3426
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Intrauterine growth retardation, Growth delay, Respiratory failure ORPHA:1194
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Intraalveolar phospholipid accumulation, Spontaneous neonatal pneu... ORPHA:217563
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Intrauterine growth retardation, Cyanotic episode ORPHA:284417
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure OMIM:613954
Combined Oxidative Phosphorylation Deficiency 4
Intrauterine growth retardation, Respiratory failure OMIM:610678
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure OMIM:618240
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Respiratory failure OMIM:606612
Congenital Myasthenic Syndrome
Respiratory arrest, Recurrent respiratory infections, Intermittent episodes of respiratory insuff... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Respiratory arrest, Recurrent respiratory infections, Intermittent episodes of respiratory insuff... ORPHA:98914
Bloom Syndrome
Pneumonia, Bronchitis, Intrauterine growth retardation, Respiratory tract infection, Cutaneous ph... ORPHA:125
Buerger Disease
Livedo reticularis, Acrocyanosis ORPHA:36258
Fanconi Renotubular Syndrome 5
Emphysema, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
Geleophysic Dysplasia 3
Pneumonia, Short stature, Respiratory failure OMIM:617809
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure OMIM:619483
Alg1-Cdg
Respiratory failure ORPHA:79327
Thoracic Dysplasia-Hydrocephalus Syndrome
Short stature, Respiratory failure ORPHA:1861
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Hypoxemia, Anomalous pulmonary venous return ORPHA:860
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Multiple Mitochondrial Dysfunctions Syndrome 1
Neonatal death, Respiratory failure, Respiratory insufficiency OMIM:605711
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory failure, Respiratory insufficiency OMIM:614299
Sandestig-Stefanova Syndrome
Intrauterine growth retardation, Respiratory failure OMIM:618804
Hereditary Motor And Sensory Neuropathy, Type Iic
Short stature, Respiratory failure, Intercostal muscle weakness OMIM:606071
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Emphysema, Pulmonary fibrosis, Premature graying of hair OMIM:620365
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Severe short stature, Rhizomelia, Disproportionate short stature, Neonatal death, Palmoplantar cu... OMIM:616482
Malignant Atrophic Papulosis
Telangiectasia of the skin, Pleural effusion, Respiratory failure ORPHA:679
Restrictive Dermopathy 2
Intrauterine growth retardation, Cyanosis OMIM:619793
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Atelectasis, Respiratory insufficiency, Intercostal muscle weakness, Recurrent lower respiratory ... ORPHA:258
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Recurrent pneumonia, Growth delay, Respiratory failure, Respiratory failure requiring assisted ve... ORPHA:496641
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Growth delay, Cyanosis OMIM:250800
Myotubular Myopathy With Abnormal Genital Development
Atelectasis, Neonatal death OMIM:300219
Netherton Syndrome
Emphysema, Recurrent respiratory infections, Short stature, Urticaria ORPHA:634
Boutonneuse Fever
Petechiae, Respiratory failure ORPHA:83313
Combined Oxidative Phosphorylation Deficiency 11
Stillbirth, Respiratory failure, Neonatal death OMIM:614922
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Respiratory failure OMIM:616505
Congenital Tracheal Stenosis
Neonatal asphyxia, Abnormal lung lobation, Anomalous origin of left pulmonary artery from ascendi... ORPHA:141127
Eosinophilic Fasciitis
Eosinophilia, Abnormal eosinophil morphology, Acrocyanosis ORPHA:3165
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:618291
Spinocerebellar Ataxia Type 1
Respiratory failure ORPHA:98755
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Respiratory failure OMIM:603689
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Atelectasis, Respiratory insufficiency, Recurrent respiratory infections, Pulmonary fibrosis, Res... OMIM:618278
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Eosinophilia, Recurrent respiratory infections, Atelectasis, Generalized abnormality of skin ORPHA:2314
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Pleural thickening, Recurrent lower respiratory tract infections, Decreased eosi... OMIM:619632
Bickerstaff Brainstem Encephalitis
Pneumonia, Respiratory tract infection, Respiratory failure, Hypercapnia, Respiratory failure req... ORPHA:79138
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Anomalous origin of left pulmona... ORPHA:99050
Acquired Methemoglobinemia
Hypoxemia, Cyanosis ORPHA:464453
T-Cell Immunodeficiency With Thymic Aplasia
Emphysema, Recurrent pneumonia, Bronchiectasis, Recurrent bronchopulmonary infections OMIM:242700
Absence Of The Pulmonary Artery
Recurrent pneumonia, Cyanosis, Pulmonary edema, Hypocapnia, Recurrent respiratory infections, Gro... ORPHA:980
Meier-Gorlin Syndrome 4
Emphysema, Intrauterine growth retardation, Birth length less than 3rd percentile, Short stature OMIM:613804
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure OMIM:618233
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Growth delay OMIM:614407
Cardiac Valvular Dysplasia 2
Pulmonary artery dilatation, Central cyanosis OMIM:620067
Heterotaxy, Visceral, 7, Autosomal
Pulmonary artery atresia, Pulmonary artery hypoplasia, Total anomalous pulmonary venous return, C... OMIM:616749
Hsd10 Disease, Infantile Type
Cyanosis ORPHA:391428
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure OMIM:615838
Hypoadrenocorticism, Familial
Cyanosis OMIM:240200
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory failure OMIM:620166
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Chylothorax, Respiratory failure OMIM:620278
Familial Dysautonomia
Acrocyanosis, Abnormal pleura morphology, Growth delay, Recurrent respiratory infections ORPHA:1764
Congenital Fibrinogen Deficiency
Subcutaneous hemorrhage, Cyanosis, Bruising susceptibility ORPHA:335
Congenital Fiber-Type Disproportion Myopathy
Aspiration pneumonia, Intercostal muscle weakness, Respiratory insufficiency due to muscle weakne... ORPHA:2020
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Short stature, Respiratory failure OMIM:619847
Dravet Syndrome
Cyanotic episode ORPHA:33069
Nijmegen Breakage Syndrome
Recurrent pneumonia, Recurrent sinopulmonary infections, Short stature, Recurrent respiratory inf... ORPHA:647
Triosephosphate Isomerase Deficiency
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Prolonged neonatal j... OMIM:615512
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
Ciliary Dyskinesia, Primary, 1
Pneumonia, Bronchiectasis, Recurrent bronchitis, Atelectasis OMIM:244400
Lethal Congenital Contracture Syndrome 2
Respiratory failure OMIM:607598
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Recurrent lower respiratory tract infections, Neonatal respiratory distress, Cyanosis OMIM:618426
Arterial Tortuosity Syndrome
Cardiorespiratory arrest, Pulmonary artery stenosis, Telangiectasia of the skin, Prematurely aged... ORPHA:3342
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Growth delay, Respiratory failure ORPHA:3240
Rajab Interstitial Lung Disease With Brain Calcifications 1
Respiratory insufficiency, Emphysema, Intrauterine growth retardation, Short stature, Abnormal pu... OMIM:613658
Oculocerebrofacial Syndrome, Kaufman Type
Growth delay, Respiratory failure ORPHA:2707
Lethal Acantholytic Erosive Disorder
Intrauterine growth retardation, Fragile skin, Respiratory failure ORPHA:158687
Pelizaeus-Merzbacher Disease, Connatal Form
Short stature, Respiratory failure ORPHA:280210
Chronic Pneumonitis Of Infancy
Hypoxemia, Cyanosis ORPHA:91359
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Intrauterine growth retardation, Respiratory failure OMIM:620327
Hyperimmunoglobulinemia D With Periodic Fever
Erythema, Growth delay, Purpura, Acrocyanosis, Urticaria ORPHA:343
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Recurrent infections due to aspiration, Acrocyanosis, Growth delay OMIM:223900
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Respiratory insufficiency ORPHA:159
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Respiratory failure, Respiratory insufficiency OMIM:613845
Cutis Laxa, Autosomal Dominant 1
Peripheral pulmonary artery stenosis, Poor wound healing, Progeroid facial appearance, Emphysema,... OMIM:123700
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Muscular Dystrophy, Duchenne Type
Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:310200
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Atelectasis, Pleural effusion, Recurrent lower respir... OMIM:620233
Glycogen Storage Disease Due To Acid Maltase Deficiency
Atelectasis, Respiratory insufficiency, Respiratory tract infection, Respiratory insufficiency du... ORPHA:365
Nocardiosis
Pneumonia, Emphysema, Pleural effusion, Pneumothorax, Pleuritis, Respiratory failure ORPHA:31204
Poems Syndrome
Acrocyanosis, Pleural effusion, Plethora, Respiratory insufficiency due to muscle weakness ORPHA:2905
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae OMIM:602473
Truncus Arteriosus
Pulmonary artery hypoplasia, Abnormal lung lobation, Intrauterine growth retardation, Cyanosis, A... ORPHA:3384
S-Adenosylhomocysteine Hydrolase Deficiency
Growth delay, Respiratory failure ORPHA:88618
Esophageal Atresia
Bronchitis, Cyanosis, Recurrent respiratory infections, Growth delay, Pulmonary hypoplasia ORPHA:1199
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Atelectasis, Recurrent sinusitis, Pulmonary artery stenosis, Respiratory ins... OMIM:615067
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Postnatal growth retardation, Intrauterine growth retardation, Respiratory failure ORPHA:254528
Farber Disease
Recurrent upper respiratory tract infections, Atelectasis, Respiratory insufficiency, Nodular pat... ORPHA:333
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Neonatal respiratory distress, Respiratory failure, Respiratory insufficiency OMIM:608836
Tarp Syndrome
Intrauterine growth retardation, Cyanosis, Pulmonary hypoplasia ORPHA:2886
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory failure, Respiratory insufficiency OMIM:609015
Chiari Malformation Type Ii
Cyanosis OMIM:207950
Multiple Acyl-Coa Dehydrogenase Deficiency
Cardiorespiratory arrest, Respiratory failure ORPHA:26791
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Cyanosis, Anomalous pulmonary venous return ORPHA:99104
Aicardi-Goutieres Syndrome 1
Erythema, Petechiae, Prolonged neonatal jaundice, Short stature, Acrocyanosis, Purpura OMIM:225750
Structural Heart Defects And Renal Anomalies Syndrome
Partial anomalous pulmonary venous return, Cyanosis OMIM:617478
Hypocomplementemic Urticarial Vasculitis
Emphysema, Pleural effusion, Angioedema ORPHA:36412
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis ORPHA:3304
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Glycogen Storage Disease Of Heart, Lethal Congenital
Pulmonary edema, Pleural effusion, Cyanosis OMIM:261740
Atrial Septal Defect, Ostium Primum Type
Recurrent respiratory infections, Pulmonary artery dilatation, Cyanosis ORPHA:99106
Ethylene Glycol Poisoning
Pulmonary edema, Cyanosis ORPHA:31826
Common Variable Immunodeficiency
Pneumonia, Emphysema, Recurrent bronchitis, Recurrent respiratory infections, Purpura, Bronchiect... ORPHA:1572
Osteopetrosis, Autosomal Recessive 5
Short stature, Growth delay, Respiratory failure, Stillbirth OMIM:259720
Isolated Right Ventricular Hypoplasia
Hypoxemia, Cyanosis ORPHA:439
Complete Atrioventricular Septal Defect
Recurrent pneumonia, Cyanosis ORPHA:1329
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis OMIM:261680
Dermatomyositis
Erythema, Abnormal eosinophil morphology, Shawl sign, V-sign, Respiratory insufficiency, Acrocyan... ORPHA:221
3-Methylglutaconic Aciduria, Type Viii
Neonatal death, Respiratory arrest, Jaundice, Growth delay, Respiratory failure OMIM:617248
Hemorrhagic Fever-Renal Syndrome
Pneumonia, Pleural effusion, Petechiae, Ecchymosis, Pulmonary edema, Respiratory failure ORPHA:340
Joubert Syndrome 21
Respiratory failure, Pulmonary hypoplasia OMIM:615636
Cutis Laxa, Autosomal Recessive, Type Ia
Emphysema, Peripheral pulmonary artery stenosis, Poor wound healing, Recurrent respiratory infect... OMIM:219100
Autosomal Recessive Polycystic Kidney Disease
Spontaneous pneumothorax, Recurrent pneumonia, Jaundice, Growth delay, Respiratory failure, Pulmo... ORPHA:731
Double Outlet Left Ventricle
Pulmonary artery stenosis, Cyanosis ORPHA:3427
Mitochondrial Trifunctional Protein Deficiency
Respiratory failure, Respiratory insufficiency ORPHA:746
Leigh Syndrome
Intrauterine growth retardation, Growth delay, Respiratory failure ORPHA:506
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cyanosis, Growth delay, Respiratory failure, Respiratory insufficiency OMIM:252010
Cutis Laxa, Autosomal Recessive, Type Ic
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Progeroid facial appearance, Atelectas... OMIM:613177
Infantile Krabbe Disease
Respiratory failure ORPHA:206436
Severe Generalized Junctional Epidermolysis Bullosa
Pneumonia, Pneumothorax, Fragile skin, Growth delay, Respiratory failure ORPHA:79404
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:220110
Autosomal Recessive Cutis Laxa Type 1
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Respiratory insufficiency, Emphysema, ... ORPHA:90349
Combined Oxidative Phosphorylation Deficiency 37
Respiratory failure, Respiratory insufficiency OMIM:618329
Goodpasture Syndrome
Reticular pattern on pulmonary HRCT, Pulmonary hemorrhage, Nodular pattern on pulmonary HRCT, Cya... OMIM:233450
Sepsis In Premature Infants
Cyanosis, Jaundice, Purpura, Petechiae ORPHA:90051
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Respiratory failure OMIM:617186
Short-Rib Thoracic Dysplasia 12
Atelectasis, Respiratory insufficiency, Intrauterine growth retardation, Neonatal death, Pulmonar... OMIM:269860
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis OMIM:619580
Amyotrophic Lateral Sclerosis
Respiratory failure ORPHA:803
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Respiratory insufficiency OMIM:617239
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Recurrent upper respiratory tract infections, Cardiorespiratory arrest, Cyanosis, Delayed puberty... ORPHA:293987
Whim Syndrome
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Respir... ORPHA:51636
B3Galt6