Gene Summary

Name:
reticulocalbin 3, EF-hand calcium binding domain
Synonyms:
D7Ertd671e,  RLP49,  6030455P07Rik,  D530026G20Rik

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
protruding tongue Rcn3tm1b(EUCOMM)Hmgu HOM E18.5 0.00
preweaning lethality, complete penetrance Rcn3tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
edema Rcn3tm1b(EUCOMM)Hmgu HOM E18.5 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 N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 100% (2 of 2)
Bone N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 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 0.0% (0 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 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 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 0.0% (0 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 0.0% (0 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 50% (1 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 Ambiguous
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 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 50% (1 of 2)
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 fundus

16 Images

Eye Morphology

VIP of left fundus

16 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Forepaw

10 Images

MicroCT E18.5

Embryo reconstruction

8 Images

Eye Morphology

VIP of left eye

16 Images

Eye Morphology

VIP of right eye

16 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Adult LacZ

LacZ Images Wholemount

10 Images

Embryo LacZ

LacZ images wholemount

4 Images

Human diseases caused by Rcn3 mutations

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

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

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

The table below shows human diseases predicted to be associated to Rcn3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Angioedema, Hereditary, 6
Facial edema, Edema of the dorsum of hands, Angioedema, Swollen lip OMIM:619363
Melkersson-Rosenthal Syndrome
Facial edema, Furrowed tongue OMIM:155900
Tongue, Pigmented Fungiform Papillae Of
Abnormality of the tongue OMIM:275250
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Atelectasis, Respiratory distress, Pulmonary edema, Tachypnea, Dys... OMIM:267450
Lipedema
Edema OMIM:614103
Bronchopulmonary Dysplasia
Atelectasis, Respiratory distress, Emphysema, Central apnea, Hyperoxemia, Dyspnea, Abnormal lung ... ORPHA:70589
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:619466
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Ground-gl... ORPHA:79126
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Ground-g... ORPHA:2302
Poirier-Bienvenu Neurodevelopmental Syndrome
Smooth philtrum, Protruding tongue, Open mouth, Downturned corners of mouth OMIM:618732
Angioedema, Hereditary, 5
Facial edema, Edema of the dorsum of hands, Angioedema, Swollen lip OMIM:619361
Infant Acute Respiratory Distress Syndrome
Pneumonia, Atelectasis, Hypoxemia, Respiratory tract infection, Cyanosis, Pulmonary edema, Tachyp... ORPHA:70587
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Atelectasis OMIM:615294
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Ground-glass opacification, Neonatal death, Tachypnea, Paraseptal emphysema... OMIM:610921
Immunodeficiency 95
Recurrent viral pneumonia, Respiratory distress, Ground-glass opacification, Recurrent viral uppe... OMIM:619773
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar... OMIM:265120
Meconium Aspiration Syndrome
Neonatal asphyxia, Transient pulmonary infiltrates, Atelectasis, Respiratory distress, Aspiration... ORPHA:70588
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis OMIM:300455
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Atelectasis, Respiratory distress, Dyspnea, Bronchi... ORPHA:922
Interstitial Pneumonitis, Desquamative, Familial
Recurrent upper respiratory tract infections, Respiratory distress, Cyanosis, Type II pneumocyte ... OMIM:263000
Recurrent Respiratory Papillomatosis
Recurrent pneumonia, Recurrent upper respiratory tract infections, Atelectasis, Respiratory insuf... ORPHA:60032
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti... OMIM:616726
Angioedema, Hereditary, 8
Facial edema, Angioedema, Laryngeal edema, Edema of the dorsum of hands, Swollen lip OMIM:619367
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Respiratory failure, Death in childhood, Respiratory insufficiency OMIM:253300
Idiopathic Chronic Eosinophilic Pneumonia
Atelectasis, Generalized abnormality of skin, Pleural effusion, Parenchymal consolidation, Elevat... ORPHA:2902
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Neonatal respiratory distress, Atelectasis, Respiratory distress, Cystic pattern on pulmonary HRC... OMIM:610978
Surfactant Metabolism Dysfunction, Pulmonary, 2
Intralobular septal thickening, Spontaneous pneumothorax, Recurrent pneumonia, Intraalveolar phos... OMIM:610913
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:615872
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia, Death in infancy OMIM:254120
Pierre Robin Syndrome
Glossoptosis, Cleft palate, Pierre-Robin sequence OMIM:261800
Pulmonary Blastoma
Dyspnea, Recurrent pneumonia, Pleuropulmonary blastoma, Pulmonary infiltrates ORPHA:64741
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Respiratory insufficiency, Exertional dy... ORPHA:3348
Pulmonary Nodular Lymphoid Hyperplasia
Dyspnea, Nodular pattern on pulmonary HRCT, Ground-glass opacification ORPHA:60026
C1Q Deficiency 2
Atelectasis, Facial erythema, Vasculitis in the skin, Elevated circulating C-reactive protein con... OMIM:620321
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Pneumocystosis
Respiratory insufficiency, Combined cystic and ground-glass pattern on pulmonary HRCT, Pleural ef... ORPHA:723
Acute Lung Injury
Pneumonia, Diffuse alveolar hemorrhage, Respiratory distress, Pulmonary infiltrates, Tachypnea, E... ORPHA:178320
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Elevated circulating creatine kinase concentration, Exertional dyspne... ORPHA:254361
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Abnormal glucose homeostasis, Elevated circulating creatine kinase concentr... ORPHA:90117
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Aspiration pneumonia ORPHA:141152
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Ground-glass opacification, Or... ORPHA:2032
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Ground-glass opacification, Respiratory tract infection, Chronic bronchitis, Diffuse r... ORPHA:79127
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Abnormal p... ORPHA:2357
Staphylococcal Necrotizing Pneumonia
Pneumonia, Respiratory distress, Hypoxemia, Pleural effusion, Parenchymal consolidation, Pulmonar... ORPHA:36238
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Respiratory distress, Elevated circulating carcinoembryonic antigen concent... ORPHA:264675
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
9q subtelomeric deletion syndrome
Protruding tongue DECIPHER:52
Pulmonary Alveolar Proteinosis, Acquired
Pneumonia, Intraalveolar phospholipid accumulation, Cyanosis, Lung abscess, Dyspnea, Recurrent re... OMIM:610910
Congenital Myopathy 21 With Early Respiratory Failure
Nocturnal hypoventilation, Lipoid pneumonia, Elevated circulating creatine kinase concentration, ... OMIM:620326
Idiopathic Acute Eosinophilic Pneumonia
Respiratory insufficiency, Abnormal pleura morphology, Abnormal pattern of respiration, Pulmonary... ORPHA:724
Severe Acute Respiratory Syndrome
Respiratory distress, Acute infectious pneumonia, Dyspnea, Diabetes mellitus, Hypoxemia, Respirat... ORPHA:140896
High Altitude Pulmonary Edema
Cyanosis, Pulmonary edema, Tachypnea, Orthopnea, Dyspnea, Hypoxemia, Pulmonary opacity ORPHA:330012
Cryptogenic Organizing Pneumonia
Respiratory distress, Ground-glass opacification, Parenchymal consolidation, Cyanosis, Pneumothor... ORPHA:1302
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Atelectasis, Neonatal death OMIM:300219
Waardenburg Syndrome Type 3
Acrocyanosis, Atelectasis ORPHA:896
Pleural Mesothelioma
Respiratory distress, Abnormal pleura morphology, Pleural effusion, Dyspnea, Abnormal lung morpho... ORPHA:50251
Alpha-1-Antitrypsin Deficiency
Reduced circulating alpha-1-antitrypsin concentration, Chronic bronchitis, Panacinar emphysema, D... OMIM:613490
Surfactant Metabolism Dysfunction, Pulmonary, 5
Intraalveolar phospholipid accumulation, Interlobular septal thickening, Ground-glass opacificati... OMIM:614370
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Acute infectious pneumonia, Dyspnea, Recurrent lower resp... ORPHA:60033
Pierre Robin Sequence With Facial And Digital Anomalies
Glossoptosis, Cleft palate, Pierre-Robin sequence OMIM:311895
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Ring Chromosome 22 Syndrome
Lymphedema, Pleural effusion, Protruding tongue, Thick vermilion border, Edema ORPHA:1446
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Nasal polyposis, Neonatal respiratory distress, Recurrent sinusitis, Chronic... OMIM:608647
Avian Influenza
Pneumonia, Hypoalbuminemia, Respiratory distress, Ground-glass opacification, Pleural effusion, E... ORPHA:454836
Adult Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary infiltrates, Pulmonary edema, Abnormal blood gas level, Dyspnea, Hypoxemia, ... ORPHA:70578
Sarcoidosis, Susceptibility To, 2
Emphysema, Hypoxemia, Pleural effusion, Pulmonary infiltrates, Pneumothorax, Dyspnea, Abnormal pu... OMIM:612387
Congenital Pulmonary Airway Malformation
Abnormal pleura morphology, Respiratory insufficiency ORPHA:2444
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:611722
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Intraalveolar phospholipid accumulation, Cyanosis, Abnormal circulating pro... ORPHA:747
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Centrilobular ground-glass opacification on pulmonary HRCT, Interlob... ORPHA:199241
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory insufficiency, Apnea, Death in infancy, Elevated circulating creatine kinase concentr... OMIM:613869
Choanal Atresia And Lymphedema
Pericardial effusion, High palate, Lymphedema OMIM:613611
Primary Ciliary Dyskinesia
Nasal polyposis, Neonatal respiratory distress, Atelectasis, Pulmonary situs ambiguus, Respirator... ORPHA:244
Bronchiolitis Obliterans
Pneumonia, Ground-glass opacification, Respiratory tract infection, Dyspnea, Bronchiolitis oblite... ORPHA:1303
Allergic Bronchopulmonary Aspergillosis
Emphysema, Bronchiectasis, Respiratory insufficiency ORPHA:1164
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Recurrent pneumonia, Respiratory insufficiency, Respiratory distress, Respiratory insufficiency d... ORPHA:254875
Idiopathic Pulmonary Hemosiderosis
Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Ground-glass opacification, Nod... ORPHA:99931
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent respiratory infections, Bronchiolitis OMIM:615993
Laryngotracheoesophageal Cleft
Dyspnea, Cyanosis, Recurrent respiratory infections, Neonatal respiratory distress ORPHA:2004
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Death in adolescence, Respiratory failure, Respiratory insufficiency due to muscle weakness, Elev... OMIM:300717
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Neonatal respiratory distress, Apnea, Cyanosis, Tachypnea, ... ORPHA:2257
Phosphoserine Aminotransferase Deficiency
Hypoglycinemia, Hyposerinemia, Apnea, Death in infancy, Cyanotic episode OMIM:610992
Gaucher Disease Type 2
Respiratory distress, Recurrent respiratory infections, Abnormal pattern of respiration ORPHA:77260
Pulmonary Alveolar Microlithiasis
Bronchitis, Interlobular septal thickening, Subpleural interstitial thickening, Ground-glass opac... ORPHA:60025
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Atelectasis, Ground-glass opacification, Pleural effu... OMIM:620233
Solar Urticaria
Angioedema, Abnormal lip morphology, Abnormal tongue morphology, Periorbital edema, Edema ORPHA:97230
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Diffuse reticul... OMIM:607616
Glycine Encephalopathy 2
Respiratory failure, Nonketotic hyperglycinemia OMIM:620398
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia, Respiratory failure, Respiratory insufficiency due to muscle weak... ORPHA:2590
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Apnea, Pulmonary hypoplasia OMIM:615228
Interstitial Lung Disease 1
Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Gro... OMIM:619611
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Pleural effusion, Pneumothorax, Dyspnea, Bronchiectasis, Pulmonary opacity ORPHA:411703
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Facial erythema OMIM:618307
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Intraalveolar phospholipid accumulation, Respiratory insufficiency, Death in childhood, Death in ... OMIM:618042
Pulmonary Hemosiderosis
Pulmonary fibrosis, Recurrent intrapulmonary hemorrhage, Transient pulmonary infiltrates, Respira... OMIM:178550
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Recurrent upper respiratory tract infections, Interstitial pneumonitis, Petechiae, Vasculitis in ... OMIM:620296
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Pleural effusion, Cyanosis ORPHA:2414
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Tachypnea, Elevated circulating... OMIM:616414
Lymphatic Malformation 14
Lymphedema OMIM:620602
Lymphatic Malformation 2
Lymphedema OMIM:611944
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, Protruding tongue, Submucous cleft hard palate, Thick vermilion border, High pal... OMIM:618106
Ciliary Dyskinesia, Primary, 1
Pneumonia, Nasal polyposis, Atelectasis, Recurrent bronchitis, Bronchiectasis, Absent outer dynei... OMIM:244400
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Respiratory failure, Pulmonary hypoplasia OMIM:616867
Congenital Diaphragmatic Hernia
Respiratory distress, Hypoxemia, Pulmonary hypoplasia ORPHA:2140
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Pneumonia, Respiratory failure requiring ... ORPHA:596
Macular Dystrophy, Dominant Cystoid
Edema, Cystoid macular edema OMIM:153880
Perching Syndrome
Respiratory distress, Cyanosis OMIM:617055
Developmental And Epileptic Encephalopathy 71
Cheyne-Stokes respiration, Respiratory failure, Respiratory insufficiency OMIM:618328
Mhc Class I Deficiency 1
Nasal polyposis, Bronchiolitis, Emphysema, Recurrent bronchitis, Bronchiectasis OMIM:604571
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Interstitial Lung Disease 2
Usual interstitial pneumonia, Alveolar cell carcinoma, Exertional dyspnea, Dyspnea, Pulmonary fib... OMIM:178500
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Bifid uvula, Protruding tongue, Alveolar ridge overgrowth, Thin vermilion border, Cleft palate OMIM:612938
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Chronic Beryllium Disease
Reticulonodular pattern on pulmonary HRCT, Respiratory insufficiency, Ground-glass opacification,... ORPHA:133
Slc35A1-Cdg
Pneumonia, Respiratory distress, Subcutaneous hemorrhage, Pulmonary hemorrhage, Hypoxemia ORPHA:238459
Congenital Myopathy 14
Abnormal circulating creatine kinase concentration, Apnea, Death in infancy, Respiratory insuffic... OMIM:618414
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Death in childhood, Respiratory insufficiency OMIM:616081
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Edema OMIM:178400
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Increased serum pyruvate, Respiratory insufficiency ORPHA:238329
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Wide mouth, Protruding tongue, Widely spaced teeth ORPHA:98795
Chronic Pneumonitis Of Infancy
Intercostal retractions, Respiratory distress, Ground-glass opacification, Cyanosis, Tachypnea, D... ORPHA:91359
Burning Mouth Syndrome
Tongue pain, Strawberry tongue, Xerostomia, Smooth tongue, Parageusia, Abnormality of taste sensa... ORPHA:353253
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Dyspnea, Centrilobular ground-glass opacification on pulmonary HRCT, Pulmonary capillary hemangio... OMIM:234810
Acrocallosal Syndrome
Everted upper lip vermilion, Open mouth, Narrow mouth, Protruding tongue, Alveolar process hypopl... OMIM:200990
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Respiratory insufficiency, Respiratory failure, Elevated circulating creati... OMIM:614399
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Elevated circulating creatinine concentration, Pulmonary hypoplasia OMIM:616733
Congenital Sialidosis Type 2
Ascites, Gingival overgrowth, Protruding tongue, Edema ORPHA:93400
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Intraalveolar phospholipid accumulation, Spontaneous neonatal pneu... ORPHA:217563
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Pitt-Hopkins-Like Syndrome 2
Wide mouth, Protruding tongue OMIM:614325
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Atelectasis, Respiratory insufficiency, Death in childhood, Tachypnea, Unconjugated hyperbilirubi... OMIM:618278
Hypophosphatasia
Emphysema, Hypercalcemia, Respiratory insufficiency ORPHA:436
Tricuspid Atresia
Pulmonary artery atresia, Cyanosis ORPHA:1209
Robin Sequence-Oligodactyly Syndrome
Abnormality of the dentition, Glossoptosis, Cleft palate ORPHA:3104
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Bilateral lung agenesis, Respiratory insufficiency OMIM:601612
Scedosporiosis
Pneumonia, Bronchitis, Apical pulmonary opacity, Pulmonary fibrosis, Pleuritis, Respiratory failu... ORPHA:449280
Developmental And Epileptic Encephalopathy 80
Long philtrum, Tented upper lip vermilion, Protruding tongue, Smooth philtrum, High palate, Wide ... OMIM:618580
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Recurrent respiratory infections, Dyspnea, Respiratory failure ORPHA:2759
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Recurrent respiratory infections, Atelectasis, Generalized abnormality of skin ORPHA:2314
Kleefstra Syndrome 1
Natal tooth, Persistence of primary teeth, Protruding tongue, Everted lower lip vermilion, Macrog... OMIM:610253
Congenital Disorder Of Glycosylation, Type Iia
Long philtrum, Diastema, Macrodontia, Gingival overgrowth, Open mouth, Protruding tongue, Everted... OMIM:212066
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal respiratory distress, Neonatal death, Hyperprolinemia, Hyperalaninemia, Pulmonary hypopl... OMIM:619003
Farber Disease
Recurrent upper respiratory tract infections, Atelectasis, Respiratory insufficiency, Respiratory... ORPHA:333
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Angelman Syndrome Due To A Point Mutation
Wide mouth, Protruding tongue, Widely spaced teeth ORPHA:411511
Cystic Hamartoma Of Lung And Kidney
Recurrent respiratory infections, Pulmonary fibrosis, Respiratory insufficiency ORPHA:2111
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Macroglossia, Protruding tongue OMIM:242860
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Upper eyelid edema, Open mouth, Protruding tongue, Smooth philtrum, Everted lower lip vermilion, ... OMIM:617804
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Atelectasis, Respiratory insufficiency, Hypoventilation, Intercostal muscle weakness, Recurrent l... ORPHA:258
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Respiratory insufficiency, Respiratory failure, Elevated circulating creatine kinase concentration ORPHA:266
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Smooth philtrum, Protruding tongue, Everted lower lip vermilion ORPHA:324410
Auriculocondylar Syndrome 4
Glossoptosis, Narrow mouth, Cleft palate OMIM:620457
Marshall-Smith Syndrome
Gingival overgrowth, Open mouth, Protruding tongue ORPHA:561
Immunodeficiency 54
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency OMIM:609981
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion OMIM:618773
Platelet-Activating Factor Acetylhydrolase Deficiency
Increased level of platelet-activating factor OMIM:614278
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gingival overgrowth, Wide mouth, Protruding tongue OMIM:618797
Angelman Syndrome
Macroglossia, Wide mouth, Protruding tongue, Widely spaced teeth OMIM:105830
Nephronophthisis 2
Respiratory insufficiency, Elevated circulating creatinine concentration, Hyperkalemia, Respirato... OMIM:602088
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, In... ORPHA:95430
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Mercury Poisoning
Respiratory distress, Interstitial pneumonitis, Hypokalemia, Dyspnea, Respiratory failure ORPHA:330021
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia, Pleural effusion, Pulmonary ed... ORPHA:542323
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Icf Syndrome
Macroglossia, Protruding tongue ORPHA:2268
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Ciliary Dyskinesia, Primary, 2
Nasal polyposis, Respiratory distress, Absent inner and outer dynein arms, Recurrent respiratory ... OMIM:606763
Fanconi Renotubular Syndrome 5
Glycosuria, Emphysema, Hypophosphatemic rickets, Lung adenocarcinoma, Hypophosphatemia, Pulmonary... OMIM:618913
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Hypoglycemia, Respiratory insufficiency, Hyperglycinemia, Death in... OMIM:245400
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Atelectasis, Recurrent sinusitis, Pulmonary artery stenosis, Respiratory ins... OMIM:615067
Surfactant Metabolism Dysfunction, Pulmonary, 4
Ground-glass opacification, Tachypnea, Intraalveolar phospholipid accumulation OMIM:300770
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Lymphangioleiomyomatosis
Chylothorax, Atelectasis, Emphysema, Pulmonary lymphangiomyomatosis, Pulmonary infiltrates, Pneum... ORPHA:538
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Recurrent acute respiratory tract infection, Paradoxical respiration OMIM:620011
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Neonatal respiratory distress, Hypopnea, Respiratory distress, Apnea, Death in childhood, Death i... OMIM:618426
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Microcephaly 26, Primary, Autosomal Dominant
Gingival overgrowth, Protruding tongue, Long philtrum OMIM:619179
Niemann-Pick Disease, Type C2
Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, P... OMIM:607625
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Hyperglycinemia, Hyperamylasemia, Death in infancy, Elevated circulating creatine k... OMIM:619386
Larsen-Like Syndrome, Lethal Type
Neonatal death, Respiratory insufficiency, Pulmonary hypoplasia OMIM:245650
Chitayat Syndrome
Respiratory distress, Abnormal pulmonary interstitial morphology, Recurrent respiratory infections OMIM:617180
Hereditary Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Choanal Atresia
Respiratory distress, Recurrent respiratory infections, Cyanosis ORPHA:137914
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory insufficiency, Respiratory distress, Respiratory tract infection, Elevated circulatin... ORPHA:308552
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Apnea, Respiratory failure, Respiratory insufficiency OMIM:610127
Hepatic Veno-Occlusive Disease
Jaundice, Respiratory failure, Increased total bilirubin ORPHA:890
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Pulmonary hypoplasia OMIM:617895
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Combined Oxidative Phosphorylation Deficiency 28
Increased serum pyruvate, Respiratory failure OMIM:616794
Glycogen Storage Disease Due To Acid Maltase Deficiency
Atelectasis, Respiratory insufficiency, Respiratory distress, Respiratory tract infection, Elevat... ORPHA:365
Diffuse Alveolar Hemorrhage
Ground-glass opacification, Elevated circulating creatinine concentration, Pulmonary infiltrates,... ORPHA:90060
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... OMIM:254210
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea, Respiratory failure, Death in infancy OMIM:616277
Juvenile Sialidosis Type 2
Gingival overgrowth, Protruding tongue ORPHA:93399
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Down Syndrome
Narrow palate, Abnormality of the dentition, Macroglossia, Downturned corners of mouth, Thick low... ORPHA:870
Kleefstra Syndrome Due To 9Q34 Microdeletion
Macroglossia, Protruding tongue, Everted lower lip vermilion, Downturned corners of mouth ORPHA:96147
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Wide mouth, Protruding tongue, Widely spaced teeth ORPHA:98794
Congenital Arthrogryposis With Anterior Horn Cell Disease
Neonatal death, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:611890
Nemaline Myopathy 8
Respiratory failure, Death in infancy OMIM:615348
Alpha-1-Antitrypsin Deficiency
Reduced circulating alpha-1-antitrypsin concentration, Bronchitis, Emphysema, Jaundice, Bronchiec... ORPHA:60
X-Linked Dystonia-Parkinsonism
Protruding tongue ORPHA:53351
Developmental And Epileptic Encephalopathy 31B
Gingival overgrowth, Protruding tongue OMIM:620352
Tularemia
Pneumonia, Respiratory distress, Pleural effusion, Pulmonary infiltrates, Abnormal pulmonary thor... ORPHA:3392
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... OMIM:605809
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Decreased circulating carnitine concentration, Respiratory distress, Ventilator dependence with i... ORPHA:254864
Primary Effusion Lymphoma
Dyspnea, Pleural effusion ORPHA:48686
Gm1-Gangliosidosis, Type Ii
Gingival overgrowth, Narrow mouth, Protruding tongue OMIM:230600
Ritscher-Schinzel Syndrome 2
Short philtrum, High palate, Intestinal malrotation, Protruding tongue OMIM:300963
Achondrogenesis, Type Ia
Polyhydramnios, Hydrops fetalis, Protruding tongue, Increased nuchal translucency OMIM:200600
Lujo Hemorrhagic Fever
Atelectasis, Respiratory distress, Ecchymosis, Elevated circulating C-reactive protein concentrat... ORPHA:319213
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy OMIM:225753
Amyotrophic Lateral Sclerosis 28
Respiratory failure OMIM:620452
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Diastema, Thick lower lip vermilion, Protruding tongue, Thick vermilion border, Macroglossia, Wid... OMIM:301040
Raine Syndrome
Natal tooth, Gingival overgrowth, Narrow mouth, Protruding tongue, Microdontia, Enamel hypoplasia... OMIM:259775
Cutis Laxa, Autosomal Recessive, Type Ic
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Progeroid facial appearance, Atelectas... OMIM:613177
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Hyperekplexia 4
Respiratory failure, Abnormal circulating acylcarnitine concentration OMIM:618011
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
White Sponge Nevus 2
Edema OMIM:615785
Laryngotracheal Angioma
Respiratory distress, Apnea, Intercostal retractions, Cyanosis ORPHA:137935
Nipah Virus Disease
Respiratory distress, Recurrent pharyngitis ORPHA:99825
Auriculocondylar Syndrome 2A
Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Narrow mouth, Man... OMIM:614669
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Neoplasm of the lung ORPHA:142
Congenital Tricuspid Valve Dysplasia
Cyanosis, Tachypnea, Respiratory failure, Hypoxemia, Anomalous pulmonary venous return, Respirato... ORPHA:555874
Barth Syndrome
Elevated monolysocardiolipin/cardiolipin ratio, Recurrent bronchitis OMIM:302060
Stuve-Wiedemann Syndrome 2
Respiratory distress, Neonatal death, Death in adolescence, Stillbirth OMIM:619751
Glutamine Deficiency, Congenital
Erythema, Neonatal respiratory distress, Apnea, Hyperammonemia, Neonatal death, Hypoglutaminemia,... OMIM:610015
Whim Syndrome
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Respir... ORPHA:51636
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis ORPHA:71277
Congenital Myopathy 10B, Mild Variant
Recurrent pneumonia, Mildly elevated creatine kinase, Abnormal circulating creatine kinase concen... OMIM:620249
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Emphysema, Type I diabetes mellitus, Pulmonary fibrosis, Premature graying of hair OMIM:620365
Brown-Vialetto-Van Laere Syndrome 1
Respiratory insufficiency, Respiratory distress, Nocturnal hypoventilation, Death in childhood, D... OMIM:211530
Congenital Disorder Of Glycosylation, Type Iie
Smooth philtrum, Narrow mouth, Protruding tongue, Thick vermilion border OMIM:608779
Melkersson-Rosenthal Syndrome
Furrowed tongue, Periorbital edema, Macroglossia, Cheilitis, Edema ORPHA:2483
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Respiratory distress, Hyperglycinemia, Death in infancy, Tachypnea, Re... OMIM:614299
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia ORPHA:26792
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating glutaric acid concentration, Glycosuria, Hypoglycemia, Respiratory distress,... OMIM:231680
Lymphatic Malformation 5
Facial edema, Predominantly lower limb lymphedema, Cleft palate OMIM:153200
Leukocyte Adhesion Deficiency Type Ii
Gingival overgrowth, Protruding tongue, Deep philtrum, Long upper lip, Palpebral edema, Narrow pa... ORPHA:99843
Deafness-Lymphedema-Leukemia Syndrome
Recurrent respiratory infections, Bruising susceptibility, Respiratory failure ORPHA:3226
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Respiratory failure, Elevated circulating creatine kinase c... ORPHA:168486
Pyruvate Dehydrogenase E1-Alpha Deficiency
Apneic episodes precipitated by illness, fatigue, stress, Increased serum pyruvate, Hyperalaninem... OMIM:312170
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Congenital Heart Block
Pleural effusion, Cyanosis ORPHA:60041
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory insufficiency, Respiratory failure, Elevated circulating creatine kinase concentration ORPHA:370968
Lymphatic Malformation 12
Neonatal respiratory distress, Neonatal death, Death in adolescence, Pleural thickening, Recurren... OMIM:620014
Blomstrand Lethal Chondrodysplasia
Natal tooth, Long philtrum, Protruding tongue, Polyhydramnios, Hydrops fetalis ORPHA:50945
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Chylothorax, Respiratory distress, Death in childhood, Death in infancy, Respiratory failure OMIM:620278
Angelman Syndrome
Wide mouth, Protruding tongue, Widely spaced teeth ORPHA:72
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Respiratory distress, Hypomethioninemia, Hyperhomocystinemia, Jaundice, Respiratory failure OMIM:250940
Peroxisome Biogenesis Disorder 1A (Zellweger)
High, narrow palate, Macroglossia, High palate, Protruding tongue OMIM:214100
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Protruding tongue OMIM:619580
Short-Rib Thoracic Dysplasia 12
Neonatal death, Respiratory insufficiency, Atelectasis, Pulmonary hypoplasia OMIM:269860
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Bruising susceptibility, Atelectasis, Respiratory insufficiency, Respiratory distress, Repeated p... ORPHA:536467
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Neonatal respiratory distress, Death in infancy, Elevated circulating creat... OMIM:615042
Malaria
Respiratory distress, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration ORPHA:673
Goodpasture Syndrome
Reticular pattern on pulmonary HRCT, Ground-glass opacification, Pulmonary hemorrhage, Nodular pa... OMIM:233450
Hypoadrenocorticism, Familial
Hypoglycemia, Apnea, Cyanosis, Hyponatremia, Hyperkalemia OMIM:240200
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Radio-Renal Syndrome
Chylothorax, Respiratory distress, Pleural effusion, Dyspnea, Respiratory failure ORPHA:3015
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis, Exertional dyspnea, Orthopnea, Respiratory failure ORPHA:98913
Riddle Syndrome
Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Erythema, Bronchitis, Recurrent sinusitis, Tel... ORPHA:420741
Pulmonary Arteriovenous Malformation
Pulmonary hemorrhage, Hemothorax, Cyanosis, Telangiectasia, Dyspnea, Hypoxemia, Pleural empyema ORPHA:2038
Joubert Syndrome 1
Macroglossia, Triangular-shaped open mouth, Protruding tongue OMIM:213300
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:300580
Ciliary Dyskinesia, Primary, 42
Pneumonia, Nasal polyposis, Respiratory insufficiency, Recurrent sinusitis, Bronchiectasis OMIM:618695
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Increased serum pyruvate, Hypoglycemia OMIM:614741
Congenital Myasthenic Syndrome
Intermittent episodes of respiratory insufficiency due to muscle weakness, Cyanosis, Episodic res... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Intermittent episodes of respiratory insufficiency due to muscle weakness, Cyanosis, Episodic res... ORPHA:98914
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Hypertriglyceridemia, ... ORPHA:363400
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Respiratory insufficiency, Respiratory distress, Abnormal circulating creatine kinase concentrati... OMIM:620375
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Granulomatous Disease, Chronic, X-Linked
Recurrent pneumonia, Air bronchogram, Pleural effusion, Atelectasis OMIM:306400
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Increased circulating free fatty acid level, Respiratory distress, Episodic tachypnea,... ORPHA:26793
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Premature graying of hair, Dys... OMIM:614742
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue fasciculations, Tongue atrophy OMIM:613435
Developmental And Epileptic Encephalopathy 100
Gingival overgrowth, Tented upper lip vermilion, Protruding tongue, Microdontia, Enamel hypoplasi... OMIM:619777
Relapsing Polychondritis
Erythema, Atelectasis, Abnormal pattern of respiration, Dyspnea, Purpura ORPHA:728
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Hyperalaninemia, Death in infancy OMIM:616974
Proximal Spinal Muscular Atrophy
Neonatal respiratory distress, Hypoventilation, Recurrent infections due to aspiration, Intercost... ORPHA:70
Odontochondrodysplasia 1
Respiratory distress, Recurrent respiratory infections, Death in infancy, Pulmonary hypoplasia OMIM:184260
Cutis Laxa, Autosomal Dominant 1
Peripheral pulmonary artery stenosis, Poor wound healing, Progeroid facial appearance, Emphysema,... OMIM:123700
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Intestinal malrotation, Generalized edema, Oligohydramnios OMIM:249210
Muscular Dystrophy, Congenital, 1B
Respiratory failure, Elevated circulating creatine kinase concentration OMIM:604801
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... ORPHA:159
Okur-Chung Neurodevelopmental Syndrome
Thin upper lip vermilion, High palate, Polyhydramnios, Protruding tongue OMIM:617062
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Elevated circulating acylcarnitine concentration, Abnormal circulating creatine kinase concentrat... OMIM:615838
Tetrasomy 5P
Respiratory distress, Recurrent respiratory infections, Cyanosis, Pulmonary hypoplasia ORPHA:3309
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Dyspnea, Abnormal pleura morphology, Pulmonary fibrosis, Increased circulating ferritin concentra... ORPHA:210136
Central Hypoventilation Syndrome, Congenital, 3
Apnea, Respiratory failure, Central hypoventilation OMIM:619483
Severe Congenital Nemaline Myopathy
Respiratory failure, Pulmonary hypoplasia ORPHA:171430
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dyspnea, Respiratory failure, Respiratory insufficiency due to muscle weakness, Elevated circulat... ORPHA:352447
Catel-Manzke Syndrome
Oral synechia, Glossoptosis, Cleft palate ORPHA:1388
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence OMIM:192445
T-Cell Immunodeficiency With Thymic Aplasia
Emphysema, Recurrent pneumonia, Bronchiectasis, Recurrent bronchopulmonary infections OMIM:242700
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Glossoptosis, Cleft palate, Long philtrum ORPHA:166100
Multiple Mitochondrial Dysfunctions Syndrome 3
Hyperglycinemia, Respiratory failure, Respiratory insufficiency OMIM:615330
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Type I diabetes mellitus, Respiratory failure, Elevated circulating creatin... OMIM:620166
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Tachypnea, Maternal diabetes, Hypoxemia, Anomalous pulmonary venous return ORPHA:860
Hartnup Disorder
Glossitis OMIM:234500
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis OMIM:614876
Hemifacial Atrophy, Progressive
Tongue atrophy, Dental malocclusion, Delayed eruption of teeth, Short mandibular rami OMIM:141300
Neurodegeneration And Seizures Due To Copper Transport Defect
Abnormal circulating copper concentration, Abnormal circulating ceruloplasmin concentration, Resp... OMIM:620306
Double Outlet Right Ventricle
Cyanosis, Pulmonary artery atresia, Tachypnea, Hypocalcemia ORPHA:3426
Congenital Tracheal Stenosis
Neonatal asphyxia, Abnormal lung lobation, Respiratory distress, Anomalous origin of left pulmona... ORPHA:141127
Leigh Syndrome, Nuclear
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency OMIM:256000
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hypoglycemia, Apnea, Cyanosis, Low plasma citrulline, Fasting hypoglycemia, Impaired gluconeogenesis OMIM:261680
Hypocomplementemic Urticarial Vasculitis
Dyspnea, Pleural effusion, Emphysema, Angioedema ORPHA:36412
Arthrogryposis Multiplex Congenita 6
Death in infancy, Respiratory failure, Death in childhood, Neonatal death OMIM:619334
3-Methylglutaconic Aciduria Type 7
Pneumothorax, Neonatal hypoglycemia, Respiratory failure ORPHA:445038
Agnathia-Otocephaly Complex
Respiratory distress, Pulmonary hypoplasia OMIM:202650
Chand Syndrome
Atelectasis ORPHA:1401
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Neonatal respiratory distress, Hypoglycemia, Increased total bilirubin, Respiratory insufficiency... OMIM:608836
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Eosinophilic Granulomatosis With Polyangiitis
Nasal polyposis, Respiratory insufficiency, Abnormal pleura morphology, Cutis marmorata, Pulmonar... ORPHA:183
Hereditary Methemoglobinemia
Exertional dyspnea, Cyanosis ORPHA:621
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Pleural thickening, Elevated circulating C-reactive protein concentration, Recur... OMIM:619632
Zygomycosis
Atelectasis, Pleural effusion, Parenchymal consolidation, Pulmonary infiltrates, Pneumothorax, Ac... ORPHA:73263
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Brain-Lung-Thyroid Syndrome
Recurrent pneumonia, Neonatal respiratory distress, Respiratory distress, Abnormal pulmonary inte... ORPHA:209905
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Acrocyanosis ORPHA:1867
Congenital Multicore Myopathy With External Ophthalmoplegia
Pneumonia, Recurrent respiratory infections, Respiratory failure ORPHA:98905
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory insufficiency, Hyperglycinemia, Death in infancy, Neonatal death, Elevated circulatin... OMIM:605711
Absence Of The Pulmonary Artery
Recurrent pneumonia, Cyanosis, Pulmonary edema, Hypocapnia, Orthopnea, Abnormal pulmonary thoraci... ORPHA:980
Geleophysic Dysplasia 3
Dyspnea, Pneumonia, Respiratory failure OMIM:617809
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Recurrent pneumonia, Aspiration pneumonia, Respiratory distress, Apnea, Hypoventilation ORPHA:314655
Acquired Methemoglobinemia
Respiratory distress, Hypoxemia, Dyspnea, Cyanosis ORPHA:464453
Succinic Acidemia
Respiratory distress OMIM:600335
Netherton Syndrome
Emphysema, Recurrent respiratory infections, Urticaria ORPHA:634
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Absent cupid's bow, Cleft soft palate, Median cleft upper lip, ... ORPHA:2919
Myopathy And Diabetes Mellitus
Respiratory distress, Type I diabetes mellitus ORPHA:2596
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Mildly elevated creatine kinase, Respiratory insufficiency due to muscle we... ORPHA:1143
Nocardiosis
Pneumonia, Respiratory distress, Emphysema, Pleural effusion, Pneumothorax, Dyspnea, Pleuritis, R... ORPHA:31204
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Pulmonary artery atresia, Respiratory insufficiency, Atelectasis, Pulmonary hypoplasia OMIM:620371
Ullrich Congenital Muscular Dystrophy
Respiratory failure, Elevated circulating creatine kinase concentration ORPHA:75840
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Pulmonary fibrosis, Elevated circulating C-reactive protein concentration OMIM:612852
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Tongue atrophy ORPHA:496689
Meckel Syndrome 14
Pneumothorax, Cardiorespiratory arrest, Cyanosis, Pulmonary hypoplasia OMIM:619879
Lymphoid Interstitial Pneumonia
Centrilobular ground-glass opacification on pulmonary HRCT, Subpleural interstitial thickening, G... ORPHA:79128
Fontaine Progeroid Syndrome
High, narrow palate, Long philtrum, Anteriorly placed anus, Oligohydramnios, Narrow mouth, Protru... OMIM:612289
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Respiratory failure, Paroxysmal dyspnea ORPHA:444013
Lymphatic Malformation 10
Lymphedema OMIM:619369
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:613561
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Nocturnal hypoventilation, Respiratory failure, Elevated circulating creatine kinase concentration OMIM:603689
Ethylene Glycol Poisoning
Abnormal pattern of respiration, Hypocalcemia, Cyanosis, Episodic respiratory distress, Pulmonary... ORPHA:31826
Breath-Holding Spells
Cyanosis OMIM:607578
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Recurrent respiratory infections, Elevated circulating creatine kinase conc... ORPHA:329178
Interstitial Lung And Liver Disease
Intraalveolar phospholipid accumulation, Respiratory insufficiency, Hyperammonemia, Dyspnea, Abno... OMIM:615486
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Mitochondrial Complex I Deficiency, Nuclear Type 10
Apnea, Respiratory failure, Central hypoventilation OMIM:618233
Intermediate Nemaline Myopathy
Respiratory failure ORPHA:171433
Bickerstaff Brainstem Encephalitis
Pneumonia, Respiratory tract infection, Dyspnea, Respiratory failure, Hypercapnia, Respiratory fa... ORPHA:79138
Synaptic Congenital Myasthenic Syndromes
Neonatal respiratory distress, Respiratory insufficiency, Respiratory distress, Hypoventilation, ... ORPHA:98915
Degcags Syndrome
Long philtrum, Protruding tongue, Jejunal atresia, Hiatus hernia, Smooth philtrum, Intestinal atr... OMIM:619488
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali... OMIM:265300
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Stillbirth, Pulmonary hypoplasia OMIM:151210
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
Rhizomelic Chondrodysplasia Punctata, Type 2
Decreased circulating plasmalogen concentration OMIM:222765
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Furrowed tongue ORPHA:2743
Auriculocondylar Syndrome 1
Mandibular condyle aplasia, Dental malocclusion, Dental crowding, Anterior open-bite malocclusion... OMIM:602483
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Respiratory insufficiency, Hyperuricemia, Hyponatremia, Increased blood urea nitr... OMIM:613845
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... ORPHA:26791
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Snakebite Envenomation
Erythema, Angioedema, Ecchymosis, Hyponatremia, Respiratory failure ORPHA:449285
Neuropathy, Congenital Hypomyelinating, 3
Neonatal death, Respiratory failure, Respiratory insufficiency OMIM:618186
Combined Oxidative Phosphorylation Deficiency 4
Respiratory failure, Hyperammonemia, Death in infancy OMIM:610678
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Hypoglycemia, Respiratory distress, Episodic tachypnea, Hyperuricemi... ORPHA:348
Diaphanospondylodysostosis