Gene Summary

Name:
ATP-binding cassette, sub-family A (ABC1), member 3
Synonyms:
Abc3,  1810036E22Rik,  ABC-C

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, complete penetrance Abca3tm1b(EUCOMM)Hmgu HOM   Early adult 0.00

Download data as:  TSV  XLS

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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  Wholemount images heterozygote 100% (2 of 2)
Aorta  Wholemount images heterozygote 100% (2 of 2)
Bone  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote Ambiguous
Gall bladder  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Mesenteric lymph node  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Pancreas  Wholemount images heterozygote 100% (2 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Peyer's patch  Wholemount images heterozygote 100% (2 of 2)
Pituitary gland  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Spleen  Wholemount images heterozygote Ambiguous
Stomach  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thymus  Wholemount images heterozygote 100% (2 of 2)
Thyroid gland  Wholemount images heterozygote 100% (2 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Trigeminal V nerve  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 0.0% (0 of 2)
Vas deferens  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 100% (2 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 100% (2 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 0.0% (0 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 0.0% (0 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 0.0% (0 of 2)
Footplate N/A heterozygote 100% (2 of 2)
Forearm N/A heterozygote 0.0% (0 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 0.0% (0 of 2)
Inner ear N/A heterozygote 100% (2 of 2)
Intestine N/A heterozygote Ambiguous
Liver N/A heterozygote 100% (2 of 2)
Lower leg N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Mesonephros of female N/A heterozygote 0.0% (0 of 2)
Mesonephros of male N/A heterozygote 0.0% (0 of 2)
Metanephros N/A heterozygote 0.0% (0 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 0.0% (0 of 2)
Outflow tract N/A heterozygote 100% (2 of 2)
Pancreas N/A heterozygote Ambiguous
N/A heterozygote 100% (2 of 2)
Pharynx N/A heterozygote 100% (2 of 2)
Radius-ulna pre-cartilage condensation N/A heterozygote 0.0% (0 of 2)
Rib pre-cartilage condensation N/A heterozygote 0.0% (0 of 2)
Skeleton N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote Ambiguous
Tail somite N/A heterozygote 100% (2 of 2)
Tail N/A heterozygote 100% (2 of 2)
Thoracic vertebral cartilage condensation N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 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 0.0% (0 of 2)
Upper leg N/A heterozygote 0.0% (0 of 2)
Urinary system N/A heterozygote 0.0% (0 of 2)
Vibrissa N/A heterozygote 0.0% (0 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.72% (4 of 555)
aorta 0.18% (1 of 541)
bone 0.0%
brain 0.92% (5 of 545)
brainstem 0.37% (2 of 543)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 546)
cerebellum 0.37% (2 of 545)
cerebral cortex 0.37% (2 of 535)
esophagus 1.8% (7 of 388)
eye 0.0%
gall bladder 0.0%
heart 0.37% (2 of 535)
hippocampus 0.55% (3 of 545)
hypothalamus 0.36% (2 of 549)
kidney 4.61% (25 of 542)
large intestine 5.24% (28 of 534)
liver 0.0%
lower urinary tract 0.19% (1 of 539)
lung 0.37% (2 of 546)
lymph node 0.19% (1 of 540)
mammary gland 0.0%
mesenteric lymph node 0.34% (1 of 294)
olfactory lobe 0.37% (2 of 543)
oral epithelium 0.0%
ovary 0.18% (1 of 545)
oviduct 0.0%
pancreas 0.73% (4 of 546)
parathyroid gland 0.19% (1 of 526)
peripheral nervous system 0.37% (2 of 542)
peyers patch 0.0%
pituitary gland 0.18% (1 of 544)
prostate gland 2.15% (12 of 558)
skeletal muscle 0.0%
skin 0.18% (1 of 557)
small intestine 5.37% (29 of 540)
spinal cord 0.37% (2 of 538)
spleen 0.37% (2 of 538)
stomach 3.51% (19 of 542)
striatum 0.56% (3 of 540)
testis 1.09% (6 of 552)
thymus 0.19% (1 of 537)
thyroid gland 3.37% (18 of 534)
trachea 0.56% (3 of 532)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.37% (2 of 535)
vas deferens 4.49% (16 of 356)
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 2.04% (1 of 49)
axial skeleton 2.38% (1 of 42)
brain 1.74% (6 of 344)
central nervous system ganglion 2.17% (1 of 46)
cranium 0.0%
dorsal root ganglion 0.0%
ear 0.29% (1 of 341)
embryo 0.28% (1 of 353)
external ear 2.13% (1 of 47)
eye 0.0%
femur pre-cartilage condensation 0.0%
footplate 0.28% (1 of 358)
forearm 0.0%
forebrain 0.29% (1 of 347)
forelimb 0.27% (1 of 376)
fronto-nasal process 2.13% (1 of 47)
gut 2.56% (1 of 39)
handplate 0.29% (1 of 348)
head 1.12% (4 of 357)
head mesenchyme 2.5% (1 of 40)
heart 0.27% (1 of 366)
heart ventricle 0.0%
hindbrain 0.57% (2 of 348)
hindlimb 0.29% (1 of 341)
humerus pre-cartilage condensation 0.0%
inner ear 0.0%
intestine 2.33% (1 of 43)
liver 0.3% (1 of 338)
lower leg 0.0%
lung 0.29% (1 of 342)
mandibular process 0.29% (1 of 343)
maxillary process 0.29% (1 of 347)
mesonephros of female 3.12% (1 of 32)
mesonephros of male 0.0%
metanephros 2.63% (1 of 38)
midbrain 0.28% (1 of 354)
nasal septum 2.13% (1 of 47)
nose 1.89% (1 of 53)
notochord 2.38% (1 of 42)
oral cavity 0.0%
outflow tract 0.0%
pancreas 2.44% (1 of 41)
pericardium 2.38% (1 of 42)
pharynx 2.78% (1 of 36)
radius-ulna pre cartilage condensation 2.33% (1 of 43)
rib pre-cartilage condensation 2.44% (1 of 41)
skeleton 1.79% (1 of 56)
skin 0.29% (1 of 348)
spinal cord 0.0%
stomach 0.0%
tail 0.28% (1 of 354)
tail somite group 0.3% (1 of 337)
thoracic vertebral cartilage condensation 2.44% (1 of 41)
tongue 2.38% (1 of 42)
trachea 2.17% (1 of 46)
trunk mesenchyme 2.86% (1 of 35)
umbilical artery embryonic part 0.0%
umbilical vein embryonic part 0.0%
upper arm 0.48% (1 of 210)
upper leg 0.49% (1 of 204)
urinary system 0.0%
vibrissa 0.0%

Associated Images

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

Adult LacZ

LacZ Images Wholemount

24 Images

Embryo LacZ

LacZ images wholemount

4 Images

MicroCT E18.5

Embryo reconstruction

6 Images

Human diseases caused by Abca3 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 Abca3 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Abca3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Bronchopulmonary Dysplasia
Respiratory distress, Pulmonary sequestration, Hyperoxemia, Abnormal respiratory system physiolog... ORPHA:70589
Pulmonary Blastoma
Pulmonary infiltrates, Pleuropulmonary blastoma, Cough, Recurrent pneumonia, Dyspnea ORPHA:64741
Asbestos Intoxication
Reduced vital capacity, Ground-glass opacification, Reduced forced vital capacity, Respiratory fa... ORPHA:2302
Pulmonary Nodular Lymphoid Hyperplasia
Dyspnea, Ground-glass opacification, Cough, Nodular pattern on pulmonary HRCT ORPHA:60026
Mucus Inspissation Of Respiratory Tract
Chronic pulmonary obstruction, Atelectasis, Chronic sinusitis, Bronchiectasis, Recurrent respirat... OMIM:253240
Cholesterol Pneumonia
Cyanosis, Cough, Tachypnea, Death in infancy, Pneumonia OMIM:215030
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Pulmonary edema, Tachypnea, Atelectasis, Neonatal respiratory distress, Dys... OMIM:267450
Ciliary Dyskinesia, Primary, 21
Atelectasis, Chronic sinusitis, Recurrent pneumonia, Ciliary dyskinesia, Neonatal respiratory dis... OMIM:615294
Immunodeficiency 95
Respiratory distress, Ground-glass opacification, Recurrent viral upper respiratory tract infecti... OMIM:619773
Ciliary Dyskinesia, Primary, 29
Atelectasis, Ciliary dyskinesia, Bronchiectasis, Decreased nasal nitric oxide, Recurrent respirat... OMIM:615872
Surfactant Metabolism Dysfunction, Pulmonary, 1
Interlobular septal thickening, Apnea, Desquamative interstitial pneumonitis, Cyanosis, Intraalve... OMIM:265120
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... OMIM:610921
Ciliary Dyskinesia, Primary, 20
Respiratory insufficiency due to defective ciliary clearance, Cough, Recurrent sinusitis, Atelect... OMIM:615067
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia, Respiratory failure OMIM:619887
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Abnormal mucociliary clearance, Atelectasis, Bronchiectasis, Recurrent resp... OMIM:619466
Familial Nasal Acilia
Respiratory distress, Recurrent upper respiratory tract infections, Abnormal respiratory motile c... ORPHA:922
Idiopathic Acute Eosinophilic Pneumonia
Pulmonary infiltrates, Respiratory insufficiency, Abnormal pleura morphology, Cough, Restrictive ... ORPHA:724
Acute Interstitial Pneumonia
Interlobular septal thickening, Pulmonary infiltrates, Subpleural honeycombing, Nodular pattern o... ORPHA:79126
Ciliary Dyskinesia, Primary, 33
Cough, Recurrent lower respiratory tract infections, Chronic rhinitis, Atelectasis, Recurrent bro... OMIM:616726
Recurrent Respiratory Papillomatosis
Respiratory distress, Tracheomalacia, Nonproductive cough, Recurrent upper respiratory tract infe... ORPHA:60032
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Desquamative interstitial pneumonitis, Recurrent upper respiratory tract in... OMIM:263000
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Cyanosis, Tachypnea, Atelectasis, Respiratory tract infection, Pneumonia, Hypoxe... ORPHA:70587
Spinal Muscular Atrophy, Type I
Respiratory insufficiency, Death in childhood, Respiratory failure, Recurrent respiratory infections OMIM:253300
Emphysema, Hereditary Pulmonary
Chronic pulmonary obstruction, Chronic bronchitis, Emphysema OMIM:130700
Idiopathic Chronic Eosinophilic Pneumonia
Asthma, Nonproductive cough, Crackles, Generalized abnormality of skin, Parenchymal consolidation... ORPHA:2902
Meconium Aspiration Syndrome
Respiratory distress, Hypoxemia, Aspiration pneumonia, Wheezing, Atelectasis, Abnormal pulmonary ... ORPHA:70588
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Reduced forced expiratory volume in one second, Airway obstruction, Reduced FEV1/FVC ratio, Bronc... ORPHA:1303
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Vegetative state, Central apnea, Death in infancy, Respiratory failure OMIM:611722
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... OMIM:610913
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Chronic bronchitis, Diffuse reticular or f... ORPHA:79127
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Oxygen desaturation on exertion, Pulmonary infiltrates, Asthma, Hypoxemia, ... OMIM:610978
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Atelectasis, Recurrent bronchitis, Chronic sinusitis OMIM:300455
Tracheobronchopathia Osteochondroplastica
Respiratory insufficiency, Wheezing, Atelectasis, Bronchitis, Recurrent pneumonia, Pneumonia, Upp... ORPHA:3348
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory insufficiency, Hypertension, Pulmonary arterial hypertension, Respiratory failure, Le... OMIM:605711
Chronic Pneumonitis Of Infancy
Respiratory distress, Diffuse reticular or finely nodular infiltrations, Cyanosis, Reduced forced... ORPHA:91359
Cyanosis And Hepatic Disease
Dyspnea, Cyanosis OMIM:219400
Glaucoma-Sleep Apnea Syndrome
Sleep apnea, Respiratory insufficiency ORPHA:2085
Interstitial Lung Disease 1
Interlobular septal thickening, Crackles, Ground-glass opacification, Cough, Decreased DLCO, Intr... OMIM:619611
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia, Neonatal death OMIM:265430
Apnea, Central Sleep
Abnormal pattern of respiration, Sleep apnea, Cyanosis, Irregular respiration OMIM:207720
Larynx Atresia
Respiratory insufficiency, Recurrent respiratory infections ORPHA:1202
Pneumocystosis
Multiple pulmonary cysts, Hypoxemia, Nonproductive cough, Interstitial pneumonitis, Respiratory i... ORPHA:723
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Intraalveolar phospholipid accumulation, Cough, Decreased DLCO, Pneumonia, Restrictive ... OMIM:610910
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory insufficiency, Respiratory failure OMIM:208081
Surfactant Metabolism Dysfunction, Pulmonary, 5
Interlobular septal thickening, Respiratory insufficiency, Intraalveolar phospholipid accumulatio... OMIM:614370
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pulmonary infiltrates, Hypoxemia, Nonproductive cough, Pleural empyema, Con... ORPHA:36238
Lethal Congenital Contracture Syndrome 3
Respiratory insufficiency, Neonatal death OMIM:611369
Idiopathic Pulmonary Fibrosis
Crackles, Reticular pattern on pulmonary HRCT, Abnormal pulmonary interstitial morphology, Ground... ORPHA:2032
Cryptogenic Organizing Pneumonia
Respiratory distress, Hypoxemia, Nonproductive cough, Cyanosis, Crackles, Wheezing, Ground-glass ... ORPHA:1302
Pulmonary Hemosiderosis
Transient pulmonary infiltrates, Recurrent intrapulmonary hemorrhage, Respiratory insufficiency, ... OMIM:178550
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Pneumonia OMIM:254120
Congenital Pulmonary Airway Malformation
Respiratory insufficiency, Abnormal pleura morphology ORPHA:2444
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure OMIM:618328
Laryngotracheal Angioma
Respiratory distress, Apnea, Cyanosis, Wheezing, Cough, Intercostal retractions, Stridor ORPHA:137935
Phosphoserine Aminotransferase Deficiency
Apnea, Death in infancy, Cyanotic episode OMIM:610992
Tracheopathia Osteoplastica
Dyspnea, Wheezing, Recurrent pneumonia, Cough OMIM:189961
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Mitochondrial Complex I Deficiency, Nuclear Type 30
Respiratory failure, Neonatal death, Congestive heart failure OMIM:301021
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Cough, Respiratory failure requiring assisted ventilation, Dyspnea, Respira... ORPHA:90117
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Respiratory distress, Crackles, Acute infectious pneumonia, Tachypnea, Resp... ORPHA:264675
Bronchogenic Cyst
Abnormal pleura morphology, Cough, Atelectasis, Abnormal pulmonary thoracic imaging finding, Pneu... ORPHA:2357
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Acute Lung Injury
Respiratory distress, Pulmonary infiltrates, Abnormal pulmonary interstitial morphology, Tachypne... ORPHA:178320
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Ciliary Dyskinesia, Primary, 5
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Recurrent sinus... OMIM:608647
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Dyspnea, Upper airway obstruction, Respiratory distress ORPHA:141152
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Exertional dyspnea, Atelectasis, Pulmonary fibrosis ORPHA:254361
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary venous occlusion, Cough, Decreased DLCO, Dyspnea, Pulmonary arterial hypertension, Pulm... OMIM:234810
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Intraalveolar phospholipid accumulation, Reduced ... OMIM:300770
Mitochondrial Complex I Deficiency, Nuclear Type 3
Respiratory insufficiency, Lethargy OMIM:618224
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Warfarin-induced skin necrosis, Pulmonary embolism OMIM:176860
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Sarcoidosis, Susceptibility To, 2
Pulmonary infiltrates, Hypoxemia, Abnormal pulmonary interstitial morphology, Pulmonary arterial ... OMIM:612387
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary infiltrates, Interstitial pneumonitis, Intraalveolar phospholipid accumulation, Chronic... ORPHA:217563
Pulmonary Capillary Hemangiomatosis
Interlobular septal thickening, Pulmonary edema, Hypoxemia, Hemothorax, Cyanosis, Elevated pulmon... ORPHA:199241
Laryngotracheoesophageal Cleft
Cyanosis, Cough, Aspiration, Neonatal respiratory distress, Dyspnea, Stridor, Recurrent respirato... ORPHA:2004
Butyrylcholinesterase Deficiency
Myocardial infarction, Respiratory failure, Congestive heart failure, Respiratory failure requiri... ORPHA:132
Chronic Beryllium Disease
Reduced FEV1/FVC ratio, Lymphocytic interstitial pneumonia, Respiratory insufficiency, Ground-gla... ORPHA:133
Severe Acute Respiratory Syndrome
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... ORPHA:140896
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Cyanosis, Crackles, Intraalveolar phospholipid accumulation, Decreased DLCO... ORPHA:747
Obesity-Hypoventilation Syndrome
Excessive daytime somnolence, Cyanosis, Hypoventilation OMIM:257500
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory insufficiency, Respiratory failure OMIM:613869
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Coma, Lethargy, Confusion OMIM:237310
Idiopathic Pulmonary Hemosiderosis
Pulmonary infiltrates, Nodular pattern on pulmonary HRCT, Crackles, Reticular pattern on pulmonar... ORPHA:99931
Combined Oxidative Phosphorylation Deficiency 51
Aspiration pneumonia, Respiratory failure, Neonatal respiratory distress OMIM:619057
Lethal Infantile Mitochondrial Myopathy
Neonatal respiratory distress, Cardiomyopathy, Lethargy ORPHA:254857
Primary Ciliary Dyskinesia
Airway obstruction, Anomalous pulmonary venous return, Wheezing, Chronic rhinitis, Pulmonary situ... ORPHA:244
Mitochondrial Complex I Deficiency, Nuclear Type 6
Respiratory insufficiency, Hypertrophic cardiomyopathy, Lethargy OMIM:618228
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Interlobular septal thickening, Pulmonary arterial hypertension, Centrilobular ground-glass opaci... OMIM:265450
Febrile Infection-Related Epilepsy Syndrome
Sinusitis, Lethargy, Cough ORPHA:163703
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Death in childhood, Hypertrophic cardiomyopathy, Bradykinesia, Lethargy OMIM:618683
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Confusion, Lethargy, Central apnea ORPHA:71277
Acquired Methemoglobinemia
Respiratory distress, Coma, Palpitations, Tachycardia, Confusion, Arrhythmia, Cyanosis, Syncope, ... ORPHA:464453
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Dilated cardiomyopathy, Death in infancy, Hypertrophic cardiomyopathy,... OMIM:614299
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Respiratory insufficiency, Reduced maximal inspiratory pressure, Abnormal... ORPHA:266
Pleural Mesothelioma
Respiratory distress, Abnormal respiratory system physiology, Abnormal pleura morphology, Cough, ... ORPHA:50251
Encephalopathy Due To Prosaposin Deficiency
Respiratory insufficiency, Death in infancy, Recurrent respiratory infections ORPHA:139406
Primary Pulmonary Hypoplasia
Apnea, Asthma, Hypoxemia, Cyanosis, Tachypnea, Pulmonary hypoplasia, Abnormal breath sound, Restr... ORPHA:2257
Adult Acute Respiratory Distress Syndrome
Abnormal blood gas level, Pulmonary infiltrates, Pulmonary edema, Pneumonia, Hypoxemia, Dyspnea, ... ORPHA:70578
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency
Neonatal respiratory distress, Respiratory insufficiency, Respiratory tract infection OMIM:616326
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pulmonary opa... ORPHA:411703
Ciliary Dyskinesia, Primary, 1
Chronic rhinitis, Atelectasis, Recurrent bronchitis, Chronic sinusitis, Ciliary dyskinesia, Pneum... OMIM:244400
Neuralgic Amyotrophy
Respiratory insufficiency, Acrocyanosis ORPHA:2901
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Respiratory failure OMIM:616081
Diffuse Alveolar Hemorrhage
Irregular septal thickening on pulmonary HRCT, Airway obstruction, Pulmonary infiltrates, Pulmona... ORPHA:90060
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Cystic Hamartoma Of Lung And Kidney
Respiratory insufficiency, Pulmonary fibrosis, Recurrent respiratory infections ORPHA:2111
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Chronic pulmonary obstruction, Cyanosis, Cough, Pleural effusion, Pulmonary... ORPHA:2414
Ciliary Dyskinesia, Primary, 44
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent sinusiti... OMIM:618781
Scedosporiosis
Sinusitis, Apical pulmonary opacity, Pleural empyema, Cough, Pleuritis, Bronchitis, Respiratory f... ORPHA:449280
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
Miscarriage, Pulmonary embolism ORPHA:82
Vitamin B12-Responsive Methylmalonic Acidemia
Respiratory insufficiency, Coma, Lethargy ORPHA:28
Evans Syndrome
Petechiae, Jaundice, Bruising susceptibility, Syncope, Dyspnea, Epistaxis, Lethargy ORPHA:1959
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Avian Influenza
Respiratory distress, Pulmonary infiltrates, Miscarriage, Hypoxemia, Nonproductive cough, Ground-... ORPHA:454836
Niemann-Pick Disease, Type B
Diffuse reticular or finely nodular infiltrations, Abnormal pulmonary interstitial morphology, De... OMIM:607616
Pulmonary Alveolar Microlithiasis
Ground-glass opacification, Pneumothorax, Respiratory failure, Interlobular septal thickening, Ox... ORPHA:60025
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Respiratory insufficiency, Reduced forced vital capacity, Recurren... OMIM:618695
Ciliary Dyskinesia, Primary, 11
Chronic bronchitis, Abnormal central microtubular pair morphology of respiratory motile cilia, Re... OMIM:612649
Mitochondrial Complex I Deficiency, Nuclear Type 4
Apnea, Lethargy OMIM:618225
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Death in childhood, Respiratory insufficiency, Death in adolescence, Intraalveolar phospholipid a... OMIM:618042
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Pulmonary hypoplasia, Respiratory failure OMIM:616867
Nemaline Myopathy 8
Respiratory failure, Death in infancy OMIM:615348
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia, Respiratory failure, Respiratory insufficiency due to muscle weak... ORPHA:2590
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Allergic Bronchopulmonary Aspergillosis
Asthma, Respiratory insufficiency, Cough, Emphysema, Bronchiectasis, Pulmonary arterial hypertension ORPHA:1164
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Respiratory insufficiency, Bilateral lung agenesis, Neonatal death OMIM:601612
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Idiopathic Bronchiectasis
Reduced FEV1/FVC ratio, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower respirato... ORPHA:60033
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Ciliary Dyskinesia, Primary, 30
Asthma, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Respira... OMIM:616037
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency, Recurrent pneumonia, Ventilator dependence with ... ORPHA:254875
Bardet-Biedl Syndrome 16
Bronchiolitis, Respiratory distress, Recurrent respiratory infections OMIM:615993
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Respiratory insufficiency, Recurrent respiratory infections ORPHA:2432
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Lethargy ORPHA:26792
Larsen-Like Syndrome, Lethal Type
Respiratory insufficiency, Pulmonary hypoplasia, Neonatal death, Tracheomalacia OMIM:245650
Ciliary Dyskinesia, Primary, 28
Respiratory insufficiency due to defective ciliary clearance, Rhinitis, Chronic bronchitis, Recur... OMIM:615505
Stuve-Wiedemann Syndrome 2
Respiratory distress, Death in adolescence, Neonatal death, Pulmonary arterial hypertension, Stil... OMIM:619751
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Pulmonary hypoplasia, Pneumonia, Tracheomalacia, Wheezing,... ORPHA:95430
Interstitial Lung Disease 2
Alveolar cell carcinoma, Cough, Decreased DLCO, Usual interstitial pneumonia, Dyspnea, Exertional... OMIM:178500
Laryngeal Web, Familial
Respiratory distress, Recurrent upper respiratory tract infections, Stridor OMIM:150360
Perching Syndrome
Respiratory distress OMIM:617055
Gaucher Disease Type 2
Respiratory distress, Abnormal pattern of respiration, Recurrent respiratory infections, Cough ORPHA:77260
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Systolic heart murmur, Elevated pulmonary artery pressure, Right b... ORPHA:1329
Nephronophthisis-Like Nephropathy 2
Bronchiectasis, Pulmonary infiltrates, Recurrent respiratory infections, Cough OMIM:619468
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Ciliary Dyskinesia, Primary, 23
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Recurrent sinus... OMIM:615451
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:610127
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory distress, Respiratory insufficiency, Respiratory failure, Restrictive ventilatory defect OMIM:614399
Breath-Holding Spells
Cyanosis, Loss of consciousness OMIM:607578
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Atelectasis, Neonatal death, Death in infancy OMIM:300219
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Developmental And Epileptic Encephalopathy 40
Hyaline membranes, Lethargy OMIM:617065
Postsynaptic Congenital Myasthenic Syndromes
Reduced vital capacity, Cyanosis, Orthopnea, Drowsiness, Restrictive ventilatory defect, Exertion... ORPHA:98913
Glut1 Deficiency Syndrome 1
Confusion, Paroxysmal lethargy, Lethargy OMIM:606777
Pulmonary Arteriovenous Malformation
Telangiectasia, Hemothorax, Pleural empyema, Pulmonary hemorrhage, Abnormal bleeding, Palpitation... ORPHA:2038
Mitochondrial Complex I Deficiency, Nuclear Type 5
Apnea, Respiratory insufficiency, Lethargy OMIM:618226
Mitochondrial Complex I Deficiency, Nuclear Type 9
Breathing dysregulation, Hypoventilation, Lethargy OMIM:618232
Early Myoclonic Encephalopathy
Lethargy, Recurrent respiratory infections ORPHA:1935
Gaba-Transaminase Deficiency
Death in childhood, Lethargy OMIM:613163
Thrombophilia Due To Thrombomodulin Defect
Pulmonary embolism OMIM:614486
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy OMIM:225753
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:228940
Succinic Acidemia
Respiratory distress OMIM:600335
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Death in childhood, Pulmonary arterial hypertension, Death in infancy, Lethargy OMIM:619064
Combined Oxidative Phosphorylation Deficiency 52
Hypertrophic cardiomyopathy, Respiratory failure, Death in infancy, Lethargy OMIM:619386
Ciliary Dyskinesia, Primary, 18
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Respiratory ins... OMIM:614874
Tricuspid Atresia
Cyanosis, Pulmonary artery atresia ORPHA:1209
Typhoid
Cardiac arrest, Coma, Arrhythmia, Abnormal pulmonary interstitial morphology, Cough, Gastrointest... ORPHA:99745
Aspergillosis
Asthma, Pulmonary infiltrates, Sinusitis, Chronic pulmonary obstruction, Hypersensitivity pneumon... ORPHA:1163
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Apneic episodes in infancy, Lethargy OMIM:610006
Waardenburg Syndrome Type 3
Atelectasis, Acrocyanosis, Tracheomalacia ORPHA:896
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Purpura, Pulmonary embolism, Warfarin-induced skin necrosis OMIM:612336
Tracheal Agenesis
Respiratory insufficiency, Aplasia/Hypoplasia of the lungs ORPHA:3346
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea, Death in infancy, Hypertrophic cardiomyopathy, Respiratory failure, Bradycardia OMIM:616277
Bare Lymphocyte Syndrome, Type I
Bronchiolitis, Recurrent bronchitis, Chronic sinusitis, Emphysema, Bronchiectasis, Nasal polyposis OMIM:604571
Choanal Atresia
Respiratory distress, Tracheomalacia, Cyanosis, Abnormal nasal mucus secretion, Chronic sinusitis... ORPHA:137914
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Thrombophilia, X-Linked, Due To Factor Viii Defect
Pulmonary embolism OMIM:301071
Hepatic Veno-Occlusive Disease
Respiratory failure, Jaundice ORPHA:890
Glycine Encephalopathy
Death in infancy, Lethargy OMIM:605899
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Nipah Virus Disease
Respiratory distress, Coma, Recurrent pharyngitis, Cough ORPHA:99825
Alpha-1-Antitrypsin Deficiency
Panacinar emphysema, Chronic pulmonary obstruction, Chronic bronchitis, Wheezing, Cough, Bronchie... OMIM:613490
Dengue Fever
Petechiae, Cerebral hemorrhage, Bruising susceptibility, Hypotension, Gingival bleeding, Cardiore... ORPHA:99828
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:605809
Ciliary Dyskinesia, Primary, 26
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Recurrent sinus... OMIM:615500
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Confusion, Lethargy OMIM:617900
Ciliary Dyskinesia, Primary, 27
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Recurrent sinus... OMIM:615504
Ciliary Dyskinesia, Primary, 15
Chronic bronchitis, Abnormal axonemal organization of respiratory motile cilia, Cough, Wheezing, ... OMIM:613808
Ciliary Dyskinesia, Primary, 32
Ciliary dyskinesia, Neonatal respiratory distress, Bronchiectasis, Immotile cilia, Recurrent resp... OMIM:616481
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Malaria
Respiratory distress, Reduced consciousness/confusion ORPHA:673
Immunodeficiency 54
Respiratory insufficiency, Respiratory failure, Recurrent respiratory infections OMIM:609981
Pyruvate Dehydrogenase E1-Alpha Deficiency
Lethargy, Apneic episodes precipitated by illness, fatigue, stress OMIM:312170
Eosinophilia, Familial
Pulmonary infiltrates, Recurrent bronchitis OMIM:131400
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy ORPHA:79283
Histiocytosis, Familial Lipochrome
Pulmonary infiltrates OMIM:235900
Congenital Arthrogryposis With Anterior Horn Cell Disease
Respiratory failure, Neonatal death, Respiratory insufficiency due to muscle weakness OMIM:611890
3-Methylglutaconic Aciduria, Type Viii
Apnea, Respiratory failure, Death in infancy OMIM:617248
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Congenital Diaphragmatic Hernia
Respiratory distress, Pulmonary hypoplasia, Hypoxemia ORPHA:2140
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy OMIM:604377
Lymphoid Interstitial Pneumonia
Pulmonary venous hypertension, Subpleural interstitial thickening, Multiple pulmonary cysts, Hypo... ORPHA:79128
Benign Samaritan Congenital Myopathy
Abnormal respiratory system physiology, Lethargy ORPHA:324581
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:618291
Ciliary Dyskinesia, Primary, 9
Cough, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Ciliary dyskinesia, Pneumonia, B... OMIM:612444
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Ciliary dyskinesia, Immotile cilia, Bronchiectasis, Absent inner... OMIM:606763
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure, Congestive heart failure OMIM:616794
Arthrogryposis Multiplex Congenita 6
Death in childhood, Respiratory failure, Neonatal death, Death in infancy OMIM:619334
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Pulmonary hemorrhage, Hemosiderin-laden macrophages in bronchoalveolar fluid, Abnormal pulmonary ... OMIM:616414
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Central Hypoventilation Syndrome, Congenital, 3
Central hypoventilation, Apnea, Respiratory failure OMIM:619483
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Snakebite Envenomation
Respiratory paralysis, Abnormal bleeding, Intracranial hemorrhage, Tachycardia, Erythema, Cardiog... ORPHA:449285
Ciliary Dyskinesia, Primary, 36, X-Linked
Cough, Recurrent sinusitis, Bronchiectasis, Neonatal respiratory distress, Recurrent respiratory ... OMIM:300991
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Neonatal respiratory dis... OMIM:617091
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Lymphangioleiomyomatosis
Pulmonary infiltrates, Chylothorax, Cough, Atelectasis, Restrictive ventilatory defect, Emphysema... ORPHA:538
Multiple Carboxylase Deficiency
Respiratory distress, Coma, Lethargy, Tachypnea ORPHA:148
Tularemia
Respiratory distress, Pulmonary infiltrates, Confusion, Cough, Abnormal pulmonary thoracic imagin... ORPHA:3392
Autosomal Dominant Hyper-Ige Syndrome
Atelectasis, Generalized abnormality of skin, Recurrent respiratory infections, Cough ORPHA:2314
Niemann-Pick Disease, Type C2
Jaundice, Respiratory insufficiency, Death in childhood, Death in infancy, Prolonged neonatal jau... OMIM:607625
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal respiratory distress, Pulmonary arterial hypertension, Pulmonary hypoplasia, Neonatal death OMIM:619003
Immunodeficiency 83, Susceptibility To Viral Infections
Confusion, Lethargy OMIM:613002
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Coma, Delirium, Confusion, Drowsiness, Lethargy, Loss of consciousness ORPHA:927
Ciliary Dyskinesia, Primary, 3
Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Neonatal respiratory distress, Decreased... OMIM:608644
Ciliary Dyskinesia, Primary, 14
Chronic bronchitis, Absent inner dynein arms, Abnormal axonemal organization of respiratory motil... OMIM:613807
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
Peripartum Cardiomyopathy
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Respiratory failure, Left ... ORPHA:563
Afibrinogenemia, Congenital
Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Subdural hemorrhage, Bruisin... OMIM:202400
Respiratory Underresponsiveness To Hypoxia And Hypercapnia
Respiratory insufficiency, Respiratory failure, Hypercapnia OMIM:267480
Fructose-1,6-Bisphosphatase Deficiency
Apnea, Coma, Hyperventilation, Dyspnea, Lethargy OMIM:229700
Hyperinsulinism Due To Ucp2 Deficiency
Palpitations, Tachycardia, Syncope, Hypoglycemic coma, Drowsiness, Hypertrophic cardiomyopathy, L... ORPHA:276556
Homocystinuria Without Methylmalonic Aciduria
Lethargy ORPHA:622
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lethargy OMIM:613710
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Ciliary Dyskinesia, Primary, 12
Chronic pulmonary obstruction, Abnormal central microtubular pair morphology of respiratory motil... OMIM:612650
Spinocerebellar Ataxia, X-Linked 3
Episodic respiratory distress, Episodic hypoventilation, Death in infancy, Recurrent respiratory ... OMIM:301790
Slc35A1-Cdg
Respiratory distress, Subcutaneous hemorrhage, Pulmonary hemorrhage, Pneumonia, Hypoxemia ORPHA:238459
Carnitine Palmitoyl Transferase 1A Deficiency
Coma, Sudden cardiac death, Arrhythmia, Transient hyperlipidemia, Hypertrophic cardiomyopathy, Le... ORPHA:156
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Airway obstruction, Systolic heart murmur, Pneumonia, Transient isch... ORPHA:99103
Laryngeal Abductor Paralysis
Cyanosis, Stridor OMIM:150260
Mercury Poisoning
Respiratory distress, Interstitial pneumonitis, Confusion, Dyspnea, Respiratory failure, Loss of ... ORPHA:330021
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:300580
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Crackles, Reticular pattern on pulmonary HRCT, Decreased DLCO, Cough, Usual interstitial pneumoni... OMIM:614742
Spondylometaphyseal Dysplasia, X-Linked
Respiratory insufficiency, Respiratory failure OMIM:313420
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Palpitations, Tachycardia, Syncope, Hypoglycemic coma, Drowsiness, Hypertrophic cardiomyopathy, L... ORPHA:276575
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Recurrent respiratory infections ORPHA:2759
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Angioedema, Erythema, Upper airway obstruction ORPHA:100057
Methylmalonic Acidemia With Homocystinuria
Lethargy ORPHA:26
Atrial Septal Defect, Ostium Primum Type
Airway obstruction, Systolic heart murmur, Right bundle branch block, Atrioventricular block, Pal... ORPHA:99106
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Respiratory failure, Central sleep apnea ORPHA:168486
Nephronophthisis 2
Respiratory insufficiency, Pulmonary hypoplasia, Respiratory failure OMIM:602088
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Palpitations, Tachycardia, Syncope, Hypoglycemic coma, Drowsiness, Hypertrophic cardiomyopathy, L... ORPHA:276580
Citrullinemia Type I
Loss of consciousness, Coma, Lethargy, Tachypnea ORPHA:247525
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Coma, Lethargy ORPHA:289916
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Cardiomyopathy, Lethargy OMIM:201470
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Respiratory insufficiency, Death in childhood, Neonatal death, Death in infancy, Neonatal respira... OMIM:245400
Developmental And Epileptic Encephalopathy 92
Lethargy OMIM:617829
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Respiratory arrest, Lethargy, Ventricular tachycardia OMIM:600649
Combined Oxidative Phosphorylation Deficiency 2
Neonatal death, Lethargy OMIM:610498
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Hyperekplexia 4
Respiratory failure OMIM:618011
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Drowsiness, Coma, Tachycardia, Lethargy ORPHA:276608
Car T Cell Therapy-Associated Cytokine Release Syndrome
Pulmonary edema, Tachycardia, Confusion, Arrhythmia, Hypotension, Tachypnea, Reduced left ventric... ORPHA:542323
Holocarboxylase Synthetase Deficiency
Respiratory distress, Coma, Lethargy, Tachypnea ORPHA:79242
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Coma, Death in childhood, Tachypnea, Respiratory failure, Lethargy OMIM:615838
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Death in childhood, Respiratory insufficiency, Tachypnea, Atelectasis, Respiratory failure, Pulmo... OMIM:618278
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Bradykinesia ORPHA:240085
Ciliary Dyskinesia, Primary, 22
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Neonatal respir... OMIM:615444
Pseudo-Torch Syndrome 2
Acute respiratory distress syndrome, Petechiae, Cerebral hemorrhage, Respiratory insufficiency, P... OMIM:617397
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Cyanosis, Respiratory failure, Sever... ORPHA:444013
Farber Disease
Respiratory distress, Diffuse reticular or finely nodular infiltrations, Nodular pattern on pulmo... ORPHA:333
Scrub Typhus
Abnormal bleeding, Myocarditis, Cough, Hypotension, Reduced consciousness/confusion, Restrictive ... ORPHA:83317
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Pulmonary hypoplasia, Respiratory failure OMIM:617895
Meningococcal Meningitis
Petechiae, Hypotension, Shock, Drowsiness, Purpura, Reduced consciousness/confusion, Neonatal res... ORPHA:33475
Birt-Hogg-Dubé Syndrome
Pneumothorax, Pulmonary sequestration, Emphysema ORPHA:122
Atrial Septal Defect, Coronary Sinus Type
Supraventricular arrhythmia, Bundle branch block, Anomalous pulmonary venous return, Left-to-righ... ORPHA:99104
Goodpasture Syndrome
Pulmonary infiltrates, Increased DLCO, Nodular pattern on pulmonary HRCT, Pulmonary hemorrhage, C... OMIM:233450
Mitochondrial Phosphate Carrier Deficiency
Respiratory insufficiency, Hypertrophic cardiomyopathy, Cyanosis OMIM:610773
Carnitine-Acylcarnitine Translocase Deficiency
Coma, Respiratory insufficiency, Cyanosis, Arrhythmia, Hypotension, Ventricular tachycardia, Sudd... ORPHA:159
Hyperinsulinism Due To Hnf1A Deficiency
Palpitations, Tachycardia, Syncope, Hypoglycemic coma, Drowsiness, Lethargy, Loss of consciousness ORPHA:324575
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Ventilator dependence with inability to wean, Respiratory failure requiring... ORPHA:254864
Developmental And Epileptic Encephalopathy 41
Lethargy OMIM:617105
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Exertional dyspnea, Cyanosis OMIM:250800
Hemochromatosis, Type 2A
Arrhythmia, Dilated cardiomyopathy, Cardiomyopathy, Lethargy, Congestive heart failure OMIM:602390
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy OMIM:274270
Alpha-1-Antitrypsin Deficiency
Emphysema ORPHA:60
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Coma, Lethargy ORPHA:79312
Glycerol Kinase Deficiency
Hypertriglyceridemia, Coma, Lethargy, Loss of consciousness OMIM:307030
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Respiratory insufficiency, Recurrent lower respiratory tract infections, Atelectasis, Aspiration,... ORPHA:258
Lymphatic Malformation 12
Recurrent upper and lower respiratory tract infections, Pleural thickening, Death in adolescence,... OMIM:620014
Circumvallate Placenta Syndrome
Respiratory insufficiency, Intracranial hemorrhage OMIM:215550
Vitamin B12-Unresponsive Methylmalonic Acidemia
Respiratory insufficiency, Coma, Cardiomyopathy, Lethargy ORPHA:27
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Pneumonia, Respiratory failure requiring ... ORPHA:596
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Anti-Glomerular Basement Membrane Disease
Respiratory insufficiency, Purpura, Pulmonary infiltrates, Cough ORPHA:375
Congenital Fibrinogen Deficiency
Abnormal umbilical stump bleeding, Subcutaneous hemorrhage, Bruising susceptibility, Abnormal ble... ORPHA:335
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory insufficiency, Respiratory failure ORPHA:370968
Myopathy And Diabetes Mellitus
Respiratory distress, Delirium ORPHA:2596
Whim Syndrome
Sinusitis, Recurrent upper respiratory tract infections, Atelectasis, Recurrent pneumonia, Pneumo... ORPHA:51636
Anaplastic Thyroid Carcinoma
Respiratory distress, Neoplasm of the lung, Cough, Upper airway obstruction, Dyspnea, Stridor ORPHA:142
Immunodeficiency 60 And Autoimmunity
Bronchiectasis, Pulmonary infiltrates, Recurrent sinopulmonary infections, Pulmonary fibrosis OMIM:618394
Mitochondrial Complex I Deficiency, Nuclear Type 10
Central hypoventilation, Apnea, Respiratory failure OMIM:618233
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Hyperlysinuria With Hyperammonemia
Coma, Lethargy OMIM:238750
Hereditary Methemoglobinemia
Exertional dyspnea, Cyanosis ORPHA:621
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Death in infancy, Neonatal respiratory distress OMIM:615042
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Purpura, Vitreous hemorrhage, Pulmonary embolism OMIM:612304
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Deafness-Lymphedema-Leukemia Syndrome
Bruising susceptibility, Respiratory failure, Recurrent respiratory infections ORPHA:3226
Dihydrolipoamide Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Lethargy OMIM:246900
Vacterl Association With Hydrocephalus
Respiratory insufficiency, Stillbirth, Respiratory failure OMIM:276950
Carnitine-Acylcarnitine Translocase Deficiency
Coma, Premature ventricular contraction, Hypotension, Ventricular tachycardia, Lethargy, Cardiore... OMIM:212138
Idiopathic Congenital Hypothyroidism
Prolonged neonatal jaundice, Lethargy, Bradycardia ORPHA:95717
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Carnitine Deficiency, Systemic Primary
Coma, Confusion, Excessive daytime somnolence, Hypertrophic cardiomyopathy, Lethargy, Congestive ... OMIM:212140
Crigler-Najjar Syndrome
Jaundice, Lethargy ORPHA:205
Cystic Echinococcosis
Asthma, Urticaria, Jaundice, Multiple pulmonary cysts, Abnormal subpleural morphology, Abnormal p... ORPHA:400
Legionnaires Disease
Pulmonary infiltrates, Respiratory insufficiency, Abnormal pleura morphology, Cough, Recurrent ph... ORPHA:549
Severe Canavan Disease
Lethargy ORPHA:314911
Immunodeficiency 27A
Pulmonary infiltrates, Abnormal bronchus physiology, Pneumonia OMIM:209950
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Cyanosis, Respiratory failure requiring assisted ventilation, ... ORPHA:555874
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Systolic heart murmur, Right ventricular failure, Right-to-left shunt, C... ORPHA:439
Ciliary Dyskinesia, Primary, 38
Cough, Chronic sinusitis, Neonatal respiratory distress, Bronchiectasis, Rhinitis, Absent inner a... OMIM:618063
Eosinophilic Granulomatosis With Polyangiitis
Asthma, Pulmonary infiltrates, Sinusitis, Urticaria, Recurrent intrapulmonary hemorrhage, Respira... ORPHA:183
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Respiratory distress, Paradoxical respiration, Recurrent acute respiratory tract infection OMIM:620011
Lujo Hemorrhagic Fever
Respiratory distress, Coma, Nonproductive cough, Crackles, Confusion, Atelectasis, Drowsiness, Pu... ORPHA:319213
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Severe Congenital Nemaline Myopathy
Pulmonary hypoplasia, Respiratory failure ORPHA:171430
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory insufficiency, Respiratory failure requiring assisted ventilati... ORPHA:308552
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Respiratory arrest, Sudden cardiac death, Tachypnea, Death in infancy, Hypertrophic cardiomyopath... OMIM:201475
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Encephalopathy, Recurrent, Of Childhood
Lethargy OMIM:130950
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Sleep apnea, Respiratory insufficiency, Orthopnea, Atelectasis, Respiratory... ORPHA:365
Benign Familial Neonatal Epilepsy
Apnea, Circumoral cyanosis ORPHA:1949
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Atrioventricular block, Episodic tachypnea, Jaundice, Tachycardia, Arrhythm... ORPHA:26793
Riddle Syndrome
Conjunctival telangiectasia, Erythema, Abnormal pulmonary interstitial morphology, Recurrent sinu... ORPHA:420741
Infantile Liver Failure Syndrome 2
Jaundice, Cardiomyopathy, Prolonged prothrombin time, Lethargy OMIM:616483
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory insufficiency, Respiratory failure OMIM:615330
Long Qt Syndrome 13
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... OMIM:613485
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Respiratory failure, Hypertension ORPHA:363400
Pyruvate Dehydrogenase Deficiency
Dyspnea, Lethargy, Tachypnea ORPHA:765
Cirrhosis, Familial
Hypertension, Pulmonary arterial hypertension, Jaundice, Lethargy OMIM:215600
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Exertional dyspnea, Coma, Lethargy, Loss of consciousness ORPHA:42
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Central sleep apnea, Hypertrophic cardiomyopathy, Respiratory failure, Obstructive sleep apnea, C... ORPHA:70472
Isovaleric Acidemia
Cerebellar hemorrhage, Coma, Lethargy OMIM:243500
Absence Of The Pulmonary Artery
Pulmonary edema, Nonproductive cough, Systolic heart murmur, Cyanosis, Tachycardia, Orthopnea, Re... ORPHA:980
Cardiogenic Shock
Abnormal left ventricular function, Increased pulmonary capillary wedge pressure, Coma, Low pulse... ORPHA:97292
Restrictive Dermopathy 2
Respiratory distress, Cyanosis OMIM:619793
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Arrhythmia, Dilated cardiomyopathy, Dyspnea, Respiratory failure, Respiratory insufficiency due t... ORPHA:352447
Congenital Alpha2-Antiplasmin Deficiency
Joint hemorrhage, Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Bruising s... ORPHA:79
Granulomatosis With Polyangiitis
Pulmonary infiltrates, Sinusitis, Respiratory insufficiency, Hemosiderin-laden macrophages in bro... OMIM:608710
Muscular Dystrophy, Duchenne Type
Congestive heart failure, Arrhythmia, Dilated cardiomyopathy, Abnormal EKG, Respiratory failure, ... OMIM:310200
Congenital Myasthenic Syndrome
Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Cyanosis, Intermittent ep... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Cyanosis, Intermittent ep... ORPHA:98914
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Paroxysmal atrial tachycardia, Lethargy, Congestive heart failure ORPHA:49827
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Granulomatous Disease, Chronic, X-Linked
Cough, Atelectasis, Air bronchogram, Recurrent pneumonia, Pleural effusion OMIM:306400
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Bradykinesia ORPHA:240103
Short-Rib Thoracic Dysplasia 12
Respiratory insufficiency, Atelectasis, Pulmonary hypoplasia, Neonatal death OMIM:269860
Gaucher Disease, Type I
Pulmonary infiltrates, Abnormal pulmonary interstitial morphology, Dyspnea, Pulmonary arterial hy... OMIM:230800
Holocarboxylase Synthetase Deficiency
Coma, Hyperventilation, Lethargy, Tachypnea OMIM:253270
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Leigh Syndrome
Abnormal pattern of respiration, Respiratory insufficiency, Respiratory failure OMIM:256000
Proximal Spinal Muscular Atrophy
Recurrent infections due to aspiration, Recurrent aspiration pneumonia, Restrictive ventilatory d... ORPHA:70
Carnitine Palmitoyltransferase I Deficiency
Coma, Arrhythmia, Transient hyperlipidemia, Lethargy OMIM:255120
Intermediate Nemaline Myopathy
Respiratory failure ORPHA:171433
Chitayat Syndrome
Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog... OMIM:617180
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Pulmonary hypoplasia OMIM:616733
Tetrasomy 5P