Gene Summary

Name:
receptor-associated protein of the synapse
Synonyms:
Raps,  Nraps,  rapsyn,  43kDa acetylcholine receptor-associated protein

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 Rapsntm1b(EUCOMM)Wtsi HOM   Early adult 0.00
increased circulating HDL cholesterol level Rapsntm1b(EUCOMM)Wtsi HET Early adult 2.68×10-06

Download data as:  TSV  XLS

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

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Heart  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 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 0.0% (0 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 0.0% (0 of 2)
Gall bladder 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 0.0% (0 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)
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 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 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
Brain N/A heterozygote 0.0% (0 of 1)
Brain N/A homozygote 0.0% (0 of 1)
Ear N/A heterozygote 0.0% (0 of 1)
Ear N/A homozygote 0.0% (0 of 1)
Embryo N/A heterozygote 0.0% (0 of 1)
Embryo N/A homozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 1)
Eye N/A homozygote 0.0% (0 of 1)
Footplate N/A heterozygote 0.0% (0 of 1)
Footplate N/A homozygote 0.0% (0 of 1)
Forebrain N/A heterozygote 0.0% (0 of 1)
Forebrain N/A homozygote 0.0% (0 of 1)
Forelimb N/A heterozygote 0.0% (0 of 1)
Forelimb N/A homozygote 0.0% (0 of 1)
Handplate N/A heterozygote 0.0% (0 of 1)
Handplate N/A homozygote 0.0% (0 of 1)
Head N/A heterozygote 0.0% (0 of 1)
Head N/A homozygote 0.0% (0 of 1)
Heart N/A heterozygote 0.0% (0 of 1)
Heart N/A homozygote 0.0% (0 of 1)
Hindbrain N/A heterozygote 0.0% (0 of 1)
Hindbrain N/A homozygote 0.0% (0 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 1)
Hindlimb N/A homozygote 0.0% (0 of 1)
Liver N/A heterozygote 0.0% (0 of 1)
Liver N/A homozygote 0.0% (0 of 1)
Lung N/A heterozygote 0.0% (0 of 1)
Lung N/A homozygote 0.0% (0 of 1)
Mandibular process N/A heterozygote 0.0% (0 of 1)
Mandibular process N/A homozygote 0.0% (0 of 1)
Maxillary process N/A heterozygote 0.0% (0 of 1)
Maxillary process N/A homozygote 0.0% (0 of 1)
Midbrain N/A heterozygote 0.0% (0 of 1)
Midbrain N/A homozygote 0.0% (0 of 1)
Oral cavity N/A heterozygote 0.0% (0 of 1)
Oral cavity N/A homozygote 0.0% (0 of 1)
Skin N/A heterozygote 0.0% (0 of 1)
Skin N/A homozygote 0.0% (0 of 1)
Tail somite N/A heterozygote 0.0% (0 of 1)
Tail somite N/A homozygote 0.0% (0 of 1)
Tail N/A heterozygote 0.0% (0 of 1)
Tail N/A homozygote 0.0% (0 of 1)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 585)
oral epithelium 0.0%
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
uterus 0.0%
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)
brain 1.18% (6 of 508)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

Associated Images

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

Echo

M-Mode Images

32 Images

Embryo LacZ

LacZ images wholemount

8 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 Whole Body Lateral Orientation

10 Images

Adult LacZ

LacZ Images Wholemount

3 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Postsynaptic Congenital Myasthenic Syndromes
Restrictive ventilatory defect, Neck flexor weakness, Triceps weakness, Hip flexor weakness, Opht... ORPHA:98913
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency
Gowers sign, Respiratory insufficiency OMIM:616326
Fetal Akinesia Deformation Sequence 2
Respiratory insufficiency OMIM:618388
Fetal Akinesia Deformation Sequence
Respiratory insufficiency ORPHA:994

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Myasthenic Syndrome, Congenital, 8
Proximal muscle weakness, Facial palsy, Respiratory insufficiency, Muscle weakness OMIM:615120
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Diaphragmatic paralysis, Poor head control, Respiratory insufficiency, Diaphragmatic weakness, Fa... OMIM:614399
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Myasthenic Syndrome, Congenital, 6, Presynaptic
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory insu... OMIM:254210
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Limb muscle weak... OMIM:605809
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... OMIM:144250
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Tracheopathia Osteoplastica
Wheezing, Dyspnea, Recurrent pneumonia, Cough OMIM:189961
Bronchopulmonary Dysplasia
Wheezing, Diaphragmatic paralysis, Central apnea, Hyperoxemia, Abnormal respiratory system physio... ORPHA:70589
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Progressive external ophthalmoplegia, Respiratory insufficiency, Respiratory insufficiency due to... ORPHA:254875
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Fatiguable weakness of proximal limb muscles, Cough, Abnormal peripheral action potential amplitu... ORPHA:90117
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Gowers sign, Progressive external ophthalmoplegia, Obstructive sleep apnea, External ophthalmople... OMIM:615156
Cholesterol Pneumonia
Cyanosis, Death in infancy OMIM:215030
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Aspiration pneumonia, Upper airway obstruction ORPHA:141152
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Frontalis muscle weakness, Respiratory distress, Respiratory insufficiency due to muscle weakness... OMIM:300580
Myasthenic Syndrome, Congenital, 4B, Fast-Channel
Respiratory insufficiency, Facial palsy, Muscle weakness, Ophthalmoplegia, Neck muscle weakness OMIM:616324
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Gowers sign, Pelvic girdle muscle weakness, Facial palsy, Shoulder girdle muscle weakness, Bulbar... OMIM:603511
Amyotrophic Lateral Sclerosis 16, Juvenile
Limb muscle weakness, Amyotrophic lateral sclerosis, Muscle weakness, Abnormal lower motor neuron... OMIM:614373
Brown-Vialetto-Van Laere Syndrome 1
Proximal muscle weakness, Stridor, Respiratory insufficiency, External ophthalmoplegia, Diaphragm... OMIM:211530
Cyanosis And Hepatic Disease
Cyanosis OMIM:219400
Epilepsy, Pyridoxine-Dependent
Respiratory distress, Neonatal respiratory distress OMIM:266100
Ophthalmoplegic Neuromuscular Disorder With Abnormal Mitochondria
Muscle weakness, Abnormal cranial nerve morphology, Ophthalmoplegia OMIM:258470
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:610947
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Tachypnea, Respiratory distress, Dyspnea, Atelectasis OMIM:267450
Laryngotracheal Angioma
Wheezing, Stridor, Apnea, Cough, Respiratory distress, Intercostal retractions ORPHA:137935
Hereditary Myopathy With Early Respiratory Failure
Proximal muscle weakness, Neck flexor weakness, Respiratory insufficiency due to muscle weakness,... ORPHA:178464
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency, Generalized muscle weakness ORPHA:238329
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Optic atrophy, Death in childhood OMIM:615597
Succinic Acidemia
Respiratory distress OMIM:600335
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Xanthelasma, Abnormal LDL cholesterol concentration OMIM:603776
Severe Acute Respiratory Syndrome
Hypoxemia, Cough, Respiratory distress, Acute infectious pneumonia, Chronic lung disease, Dyspnea... ORPHA:140896
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Gaucher Disease Type 2
Respiratory distress, Ophthalmoplegia, Cough, Abnormal pattern of respiration ORPHA:77260
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypercholesterolemia, Hypertriglycer... OMIM:605814
Myopathy And Diabetes Mellitus
Pelvic girdle muscle weakness, Shoulder girdle muscle weakness, Respiratory distress, Weakness of... ORPHA:2596
Perching Syndrome
Respiratory distress OMIM:617055
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Recurrent Respiratory Papillomatosis
Wheezing, Stridor, Respiratory insufficiency, Tachypnea, Upper airway obstruction, Respiratory di... ORPHA:60032
Congenital Myasthenic Syndromes With Glycosylation Defect
Abnormal peripheral nervous system synaptic transmission, Facial palsy, Fatigable weakness, Favor... ORPHA:353327
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Prolonged miniature endplate currents, Fatigable weakness OMIM:601462
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Adult Intestinal Botulism
Dyspnea, Respiratory insufficiency due to muscle weakness, Muscle weakness, Diaphragmatic paralysis ORPHA:178487
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Abnormal mucociliary clearance, Atelectasis, Bronchiectasis OMIM:619466
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypercholestero... OMIM:615703
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy OMIM:604377
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Breath-Holding Spells
Cyanosis OMIM:607578
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Infantile-Onset X-Linked Spinal Muscular Atrophy
Proximal muscle weakness, Respiratory insufficiency, Generalized muscle weakness, Respiratory dis... ORPHA:1145
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Postsynaptic Congenital Myasthenic Syndromes
Restrictive ventilatory defect, Neck flexor weakness, Triceps weakness, Hip flexor weakness, Opht... ORPHA:98913
Hereditary Pulmonary Alveolar Proteinosis
Hypoxemia, Crackles, Tachypnea, Cough, Respiratory distress, Acute infectious pneumonia, Restrict... ORPHA:264675
Familial Nasal Acilia
Bronchiectasis, Chronic rhinitis, Chronic sinusitis, Respiratory distress, Dyspnea, Atelectasis ORPHA:922
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Hypoxemia, Reduced forced expiratory volume in one second, Pneumonia, Bronchiectasis, Decreased f... ORPHA:1303
Motor Neuropathy, Peripheral, With Dysautonomia
Orthostatic hypotension, Cyanosis, Decreased nerve conduction velocity, Abnormal autonomic nervou... OMIM:252320
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Gowers sign, Proximal muscle weakness, Triceps weakness, Cough, Respiratory distress, Dyspnea, Li... ORPHA:86812
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Ventilator dependence with inability to wean, Respiratory failure requiring... ORPHA:254864
Chronic Pneumonitis Of Infancy
Hypoxemia, Tachypnea, Cough, Respiratory distress, Intercostal retractions, Reduced forced vital ... ORPHA:91359
Apnea, Central Sleep
Cyanosis OMIM:207720
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Respiratory distress, Dyspnea ORPHA:1832
Synaptic Congenital Myasthenic Syndromes
Proximal muscle weakness, Poor head control, Neonatal respiratory distress, Respiratory insuffici... ORPHA:98915
Pleural Mesothelioma
Abnormal respiratory system physiology, Cough, Respiratory distress, Dyspnea, Pleural effusion ORPHA:50251
Cryptogenic Organizing Pneumonia
Wheezing, Hypoxemia, Bronchial breath sound, Crackles, Pneumothorax, Cough, Respiratory distress,... ORPHA:1302
Myasthenic Syndrome, Congenital, 5
Prolonged miniature endplate currents, Fatigable weakness OMIM:603034
Laryngeal Web, Familial
Respiratory distress, Stridor OMIM:150360
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Decreased miniature endplate potentials, Facial palsy OMIM:608930
Congenital Disorder Of Glycosylation, Type Iu
Death in infancy, Respiratory distress, Neonatal respiratory distress, Optic atrophy OMIM:615042
Interstitial Pneumonitis, Desquamative, Familial
Tachypnea, Respiratory distress, Respiratory failure, Cough OMIM:263000
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Optic atrophy ORPHA:26792
Pulmonary Non-Tuberculous Mycobacterial Infection
Chronic pulmonary obstruction, Crackles, Bronchiectasis, Pneumothorax, Cough, Respiratory distres... ORPHA:411703
Bardet-Biedl Syndrome 16
Respiratory distress OMIM:615993
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating transferrin c... OMIM:616000
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Multiple Carboxylase Deficiency
Tachypnea, Respiratory distress, Optic atrophy, Limb muscle weakness ORPHA:148
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Neuralgic Amyotrophy
Acrocyanosis ORPHA:2901
Van Den Bosch Syndrome
Anhidrotic ectodermal dysplasia, Unfavorable response of muscle weakness to acetylcholine esteras... ORPHA:3417
Congenital Myasthenic Syndrome
Respiratory arrest, Proximal muscle weakness, Poor head control, Stridor, Apneic episodes precipi... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Respiratory arrest, Proximal muscle weakness, Poor head control, Stridor, Apneic episodes precipi... ORPHA:98914
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis ORPHA:91130
X-Linked Centronuclear Myopathy
Fatigable weakness of bulbar muscles, Pneumonia, Respiratory distress, Fatigable weakness of swal... ORPHA:596
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Neonatal respiratory distress, Death in infancy, Nonspecific interstitial pneumonia, T... OMIM:610921
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness, Lower limb muscle weaknes... ORPHA:1143
Spinocerebellar Ataxia, X-Linked 3
Optic atrophy, Death in infancy, Episodic respiratory distress, Optic disc pallor, Episodic hypov... OMIM:301790
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Muscle weakness OMIM:616733
Amyotrophic Lateral Sclerosis
Fatigable weakness of bulbar muscles, Motor neuron atrophy, Abnormal respiratory system physiolog... ORPHA:803
Staphylococcal Necrotizing Pneumonia
Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Pleural empyema, Respiratory distress, Acut... ORPHA:36238
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Nonspecific interstitial pneumoni... OMIM:610913
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Hypertriglyceridem... OMIM:207750
Myotonic Dystrophy 1
Facial diplegia, Respiratory distress, Muscle weakness OMIM:160900
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Leukodystrophy, Hypomyelinating, 17
Respiratory distress OMIM:618006
Meconium Aspiration Syndrome
Wheezing, Hypoxemia, Atelectasis, Pneumothorax, Pulmonary arterial hypertension, Respiratory dist... ORPHA:70588
Malaria
Respiratory distress ORPHA:673
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency
Gowers sign, Respiratory insufficiency OMIM:616326
Oculopharyngodistal Myopathy 1
Proximal muscle weakness, External ophthalmoplegia, Hypercapnia, Respiratory insufficiency due to... OMIM:164310
Thyroid Lymphoma
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction ORPHA:97285
Acute Lung Injury
Hypoxemia, Pneumonia, Tachypnea, Respiratory distress, Respiratory failure, Dyspnea ORPHA:178320
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Congenital Pulmonary Lymphangiectasia
Chronic pulmonary obstruction, Pulmonary arterial hypertension, Cough, Respiratory distress, Pleu... ORPHA:2414
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea, Optic atrophy ORPHA:79097
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Buerger Disease
Acrocyanosis ORPHA:36258
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Tricuspid Atresia
Cyanosis ORPHA:1209
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Wheezing, Hypoxemia, Chronic pulmonary obstruction, Bronchiectasis, Reduced FEV1/FVC ratio, Inspi... ORPHA:79127
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616828
Anaplastic Thyroid Carcinoma
Stridor, Cough, Upper airway obstruction, Respiratory distress, Dyspnea ORPHA:142
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Wheezing, Hypoxemia, Neonatal respiratory distress, Crackles, Tachypnea, Cough, Respiratory distr... OMIM:610978
Ciliary Dyskinesia, Primary, 2
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Respiratory distress, Immotile cilia OMIM:606763
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia OMIM:612526
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Congenital Diaphragmatic Hernia
Hypoxemia, Respiratory distress ORPHA:2140
Idiopathic Neonatal Atrial Flutter
Tachypnea, Respiratory distress ORPHA:45452
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Upper airway obstruction ORPHA:100057
Nipah Virus Disease
Respiratory distress, Cough ORPHA:99825
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Optic atrophy ORPHA:289916
Stt3B-Cdg
Respiratory distress, Optic atrophy ORPHA:370924
Mercury Poisoning
Interstitial pneumonitis, Generalized muscle weakness, Respiratory distress, Respiratory failure,... ORPHA:330021
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Pneumonia, Tachypnea, Respiratory failure, Nasal flaring, Atelectasis ORPHA:70587
Oculocerebrofacial Syndrome, Kaufman Type
Optic atrophy, Respiratory distress, Respiratory failure, Dyspnea, Muscle flaccidity ORPHA:2707
N-Acetylglutamate Synthase Deficiency
Respiratory distress OMIM:237310
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Neonatal death, Death in infancy, Atelectasis OMIM:300219
Iatrogenic Botulism
Orthostatic hypotension, Diaphragmatic paralysis, Dyspnea, Muscle weakness ORPHA:254509
Avian Influenza
Productive cough, Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Respiratory distress, Non... ORPHA:454836
Infantile Krabbe Disease
Poor head control, Optic atrophy, Shoulder girdle muscle weakness, Decreased nerve conduction vel... ORPHA:206436
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Proximal muscle weakness, Respiratory insufficiency, Respiratory insufficiency due to muscle weak... ORPHA:308552
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Optic atrophy ORPHA:79312
Tetanus
Tachypnea, Respiratory distress, Autonomic bladder dysfunction, Abnormal autonomic nervous system... ORPHA:3299
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Toxin-Mediated Infectious Botulism
Dyspnea, Respiratory insufficiency due to muscle weakness, Muscle weakness, Diaphragmatic paralysis ORPHA:230800
Odontochondrodysplasia
Respiratory distress, Death in infancy ORPHA:166272
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Death in infancy, Tachypnea, Neonatal death, Apnea, Pulmonary arte... OMIM:265120
Slc35A1-Cdg
Hypoxemia, Respiratory distress, Pneumonia ORPHA:238459
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Hypoglossia With Situs Inversus
Respiratory distress, Upper airway obstruction OMIM:612776
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Optic atrophy OMIM:608799
Idiopathic Camptocormia
Amyotrophic lateral sclerosis, Fatigable weakness of skeletal muscles, Abnormal synaptic transmis... ORPHA:1320
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory failure, Respiratory distress, Dyspnea ORPHA:2759
Glycogen Storage Disease Due To Acid Maltase Deficiency
Gowers sign, Respiratory insufficiency, Diaphragmatic weakness, Respiratory insufficiency due to ... ORPHA:365
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Poor head control, Respiratory distress, Optic atrophy ORPHA:329178
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis OMIM:250800
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Leigh Syndrome With Cardiomyopathy
Optic atrophy, Apnea, Respiratory distress, Central hypoventilation, Muscle weakness, Ophthalmopl... ORPHA:70474
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Hypertriglyceridemia OMIM:606721
Hypoadrenocorticism, Familial
Cyanosis OMIM:240200
Neuromuscular Oculoauditory Syndrome
Poor head control, Decreased nerve conduction velocity, Decreased amplitude of sensory action pot... OMIM:618733
Acquired Methemoglobinemia
Hypoxemia, Dyspnea, Respiratory distress ORPHA:464453
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress OMIM:618426
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Optic atrophy, Exertional dyspnea, Respiratory insufficiency due to muscle weakness, Respiratory ... OMIM:220110
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Abnormal cranial nerve morphology ORPHA:990
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Degeneration of anterior horn cells OMIM:271225
Hyperparathyroidism, Transient Neonatal
Respiratory distress OMIM:618188
Hsd10 Disease, Infantile Type
Optic atrophy, Cyanosis ORPHA:391428
Mitochondrial Phosphate Carrier Deficiency
Cyanosis OMIM:610773
Tularemia
Respiratory distress, Pleural effusion, Cough, Pneumonia ORPHA:3392
Choanal Atresia
Chronic sinusitis, Upper airway obstruction, Respiratory distress, Abnormal nasal mucus secretion... ORPHA:137914
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress ORPHA:261304
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Optic atrophy, Cyanosis OMIM:261680
Mitochondrial Complex I Deficiency, Nuclear Type 37
Poor head control, Respiratory distress, Pulmonary arterial hypertension OMIM:619272
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Neonatal death, Muscle weakness OMIM:231680
Biotinidase Deficiency
Optic atrophy, Optic neuropathy, Limb muscle weakness, Apnea, Respiratory distress, Hyperventilation ORPHA:79241
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concent... OMIM:238600
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Surfactant Metabolism Dysfunction, Pulmonary, 5
Exertional dyspnea, Dyspnea, Respiratory insufficiency OMIM:614370
Nasolacrimal Duct Cyst
Abnormal breath sound, Paroxysmal dyspnea, Stridor, Episodic respiratory distress, Intercostal re... ORPHA:141083
Cryptococcosis
Abnormal cranial nerve morphology, Pneumonia, Limb muscle weakness, Cough, Respiratory distress, ... ORPHA:1546
Chitayat Syndrome
Respiratory distress, Tracheomalacia OMIM:617180
Moebius Syndrome
Facial diplegia, Respiratory distress OMIM:157900
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Abnormal neuron branching, Respiratory insufficiency ORPHA:367
Congenital Fibrinogen Deficiency
Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage ORPHA:335
Pulmonary Hypertension, Primary, 3
Dyspnea, Elevated pulmonary artery pressure, Pulmonary arterial hypertension, Increased pulmonary... OMIM:615343
Fructose-1,6-Bisphosphatase Deficiency
Apneic episodes in infancy, Episodic tachypnea, Respiratory distress, Dyspnea, Intermittent hyper... ORPHA:348
Asbestos Intoxication
Hypoxemia, Cyanosis, Oxygen desaturation on exertion ORPHA:2302
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Agnathia-Otocephaly Complex
Respiratory distress, Tracheomalacia OMIM:202650
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae OMIM:602473
Holocarboxylase Synthetase Deficiency
Tachypnea, Respiratory distress ORPHA:79242
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode ORPHA:284417
Japanese Encephalitis
Decreased motor nerve conduction velocity, Abnormal pattern of respiration, Respiratory paralysis... ORPHA:79139
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress ORPHA:89844
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Odontochondrodysplasia 1
Respiratory distress, Death in infancy OMIM:184260
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Apnea, Respiratory distress, Hypoventilation, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Laryngotracheoesophageal Cleft
Cyanosis ORPHA:2004
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Cyanosis OMIM:610910
Hereditary Methemoglobinemia
Cyanosis ORPHA:621
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Respiratory distress OMIM:617895
Congenital Tracheomalacia
Wheezing, Productive cough, Neonatal respiratory distress, Stridor, Respiratory insufficiency, Tr... ORPHA:95430
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia, Hypoalbumin... ORPHA:567548
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia OMIM:208920
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia OMIM:615812
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress ORPHA:544503
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Chiari Malformation Type Ii
Cyanosis OMIM:207950
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Recurrent pneumonia, Optic atrophy, Death in childhood OMIM:617303
Laron Syndrome
Hypercholesterolemia ORPHA:633
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal circulating glutamine concentration, Abnormal circulating serine concentration, Abnormal... ORPHA:247598
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress ORPHA:927
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis ORPHA:444013
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin ORPHA:86816
Acute Interstitial Pneumonia
Hypoxemia, Cyanosis ORPHA:79126
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Optic atrophy OMIM:619383
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress ORPHA:226313
Dravet Syndrome
Cyanotic episode ORPHA:33069
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Citrullinemia Type Ii
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia, A... ORPHA:247585
Hyperimmunoglobulinemia D With Periodic Fever
Acrocyanosis, Urticaria, Erythema, Purpura ORPHA:343
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis OMIM:614407
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia ORPHA:77296
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis ORPHA:3304
Primary Pulmonary Hypoplasia
Hypoxemia, Cyanosis ORPHA:2257
Mogs-Cdg
Optic atrophy, Apnea, Absent brainstem auditory responses, Respiratory distress, Hypoventilation ORPHA:79330
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypercholesterole... ORPHA:64753
Galactokinase Deficiency
Hypercholesterolemia, Hypergalactosemia, Increased level of galactitol in plasma ORPHA:79237
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Cyanosis ORPHA:860
Mitochondrial Dna-Associated Leigh Syndrome
Optic atrophy, Episodic respiratory distress, Apnea, Ophthalmoparesis, Muscle weakness, Dyspnea, ... ORPHA:255210
Lymphatic Malformation 7
Respiratory distress OMIM:617300
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Respiratory failure, Respiratory distress, Apnea, Respiratory insufficiency OMIM:608836
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Radio-Renal Syndrome
Respiratory distress, Respiratory failure, Dyspnea, Pleural effusion, Chylothorax ORPHA:3015
Isolated Right Ventricular Hypoplasia
Hypoxemia, Cyanosis ORPHA:439
Diaphanospondylodysostosis
Respiratory distress, Tracheomalacia, Respiratory insufficiency OMIM:608022
Gaucher Disease, Perinatal Lethal
Respiratory distress, Neonatal death, Apnea OMIM:608013
Sitosterolemia 1
Hypercholesterolemia, Elevated circulating sitosterol concentration, Hyperapobetalipoproteinemia OMIM:210250
Primary Dystonia, Dyt4 Type
Respiratory distress ORPHA:98805
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypercholestero... ORPHA:412
Kniest Dysplasia
Respiratory distress, Tracheomalacia OMIM:156550
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Craniofaciofrontodigital Syndrome
Respiratory distress, Dyspnea, Pulmonary arterial hypertension ORPHA:363705
Aicardi-Goutieres Syndrome 1
Petechiae, Erythema, Acrocyanosis, Purpura, Prolonged neonatal jaundice OMIM:225750
Tetrasomy 5P
Cyanosis ORPHA:3309
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Increased serum ... OMIM:619662
Waardenburg Syndrome Type 3
Acrocyanosis ORPHA:896
Lysosomal Acid Lipase Deficiency
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypercholestero... OMIM:278000
Oromandibular Dystonia
Respiratory distress ORPHA:93958
Sepsis In Premature Infants
Cyanosis, Purpura, Petechiae, Jaundice ORPHA:90051
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Cyanosis ORPHA:747
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Increased C-peptide level, Hypertriglyceridemia ORPHA:528
Lujo Hemorrhagic Fever
Crackles, Rhinitis, Respiratory distress, Muscle weakness, Nonproductive cough, Atelectasis ORPHA:319213
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis OMIM:619580
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Double Outlet Right Ventricle
Cyanosis ORPHA:3426
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis ORPHA:1867
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Tachypnea, Respiratory distress, Pneumonia, Episodic tachypnea ORPHA:26793
Criss-Cross Heart
Cyanosis ORPHA:1461
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Pulmonary arterial hypertension ORPHA:2519
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis ORPHA:488627
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Optic atrophy OMIM:123790
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Optic atrophy ORPHA:1555
Brain-Lung-Thyroid Syndrome
Neonatal respiratory distress, Pulmonary arterial hypertension, Respiratory distress, Recurrent p... ORPHA:209905
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis ORPHA:159
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Tracheomalacia, Neonatal respiratory distress OMIM:217980
Congenital Enterovirus Infection
Respiratory distress, Pleural effusion ORPHA:292
Microlissencephaly-Micromelia Syndrome
Respiratory distress ORPHA:50810
Pulmonary Arteriovenous Malformation
Telangiectasia, Hypoxemia, Cyanosis ORPHA:2038
Q Fever
Pneumonia, Cough, Respiratory distress, Muscle weakness, Pleural effusion ORPHA:781
Auriculocondylar Syndrome
Respiratory distress, Snoring, Obstructive sleep apnea ORPHA:137888
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Rare Circulatory System Disease
Cyanosis ORPHA:98028
Rodrigues Blindness
Nasal flaring OMIM:268320
Hereditary Angioedema Type 1
Respiratory distress, Dyspnea, Inspiratory stridor ORPHA:100050
Pulmonary Capillary Hemangiomatosis
Hypoxemia, Cyanosis ORPHA:199241
Renal Dysplasia-Limb Defects Syndrome
Respiratory failure, Pneumothorax, Neonatal death, Respiratory distress OMIM:266910
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Pulmonary arterial hypertension, Aganglionic megacolon ORPHA:210122
Mandibuloacral Dysplasia
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level ORPHA:2457
Campomelic Dysplasia
Respiratory distress, Apnea, Tracheobronchomalacia OMIM:114290
Complete Atrioventricular Septal Defect
Wheezing, Crackles, Tachypnea, Elevated pulmonary artery pressure, Pulmonary venous hypertension,... ORPHA:1329
Ethylene Glycol Poisoning
Episodic respiratory distress, Abnormal pattern of respiration, Tachypnea, Facial palsy, Ophthalm... ORPHA:31826
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Optic atrophy, Stridor, Pulmonary arterial hypertension, Respiratory distress, Airway obstruction ORPHA:505248
Ramos-Arroyo Syndrome
Respiratory distress, Aganglionic megacolon, Abnormal autonomic nervous system physiology ORPHA:1051
Pulmonary Alveolar Microlithiasis
Hypoxemia, Cyanosis, Oxygen desaturation on exertion, Fatigable weakness ORPHA:60025
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress OMIM:612863
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:819
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis ORPHA:2326
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis OMIM:261740
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Cyanosis ORPHA:555874
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Cyanosis, Optic disc pallor, Optic neuropathy OMIM:252010
Alternating Hemiplegia Of Childhood
Respiratory distress, Aspiration, Apnea, Abnormal autonomic nervous system physiology ORPHA:2131
Hemangiomatosis, Cutaneous, With Associated Features
Acrocyanosis OMIM:234800
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Death in infancy OMIM:617478
Eosinophilic Granulomatosis With Polyangiitis
Acrocyanosis, Urticaria, Cutis marmorata, Purpura ORPHA:183
Farber Disease
Respiratory distress, Respiratory insufficiency, Atelectasis ORPHA:333
Spondyloepiphyseal Dysplasia Congenita
Restrictive ventilatory defect, Respiratory distress OMIM:183900
Atrioventricular Septal Defect 3
Cyanosis OMIM:600309
Bacterial Toxic-Shock Syndrome
Sinusitis, Respiratory distress, Tachypnea, Pneumonia ORPHA:36234
Arnold-Chiari Malformation Type Ii
Cyanosis ORPHA:1136
Methylmalonic Aciduria, Cblb Type
Respiratory distress OMIM:251110
Hemorrhagic Fever-Renal Syndrome
Pneumonia, Epistaxis, Cough, Respiratory distress, Muscle weakness, Respiratory failure, Dyspnea,... ORPHA:340
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress OMIM:610536
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory insufficiency, Peripapillary atrophy, Repeated pneumothoraces, Respiratory distress, ... ORPHA:536467
Fucosidosis
Acrocyanosis, Vascular skin abnormality ORPHA:349
Nocardiosis
Productive cough, Pneumonia, Pneumothorax, Respiratory distress, Nonproductive cough, Respiratory... ORPHA:31204
Methylmalonic Aciduria, Cbla Type
Respiratory distress OMIM:251100
Idiopathic Hypereosinophilic Syndrome
Cough, Respiratory distress, Muscle weakness, Asthma, Pulmonary embolism, Dyspnea, Pleural effusion ORPHA:3260
Pfeiffer Syndrome Type 2
Respiratory distress, Tracheomalacia ORPHA:93259
Cocaine Intoxication
Wheezing, Tachypnea, Pneumothorax, Cough, Respiratory distress, Hyperventilation ORPHA:90068
Arterial Tortuosity Syndrome
Respiratory failure, Respiratory distress, Dyspnea, Cardiorespiratory arrest ORPHA:3342
Hyperoxaluria, Primary, Type I
Acrocyanosis, Optic atrophy, Cutis marmorata, Optic neuropathy OMIM:259900
Tarp Syndrome
Optic atrophy, Cyanosis ORPHA:2886
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia OMIM:249310
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Respiratory distress OMIM:612852
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Optic atrophy, Respiratory distress, Pulmonary arterial hypertension, Pulmonary embolism ORPHA:79282
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Pfeiffer Syndrome Type 3
Respiratory distress, Tracheomalacia ORPHA:93260
Diamond-Blackfan Anemia 10
Respiratory distress OMIM:613309
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress ORPHA:438216
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:79240
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress OMIM:300968
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Decreased sensory nerve conduction velocity, Central sleep apnea OMIM:615273
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:370
Esophageal Atresia
Chronic pulmonary obstruction, Episodic respiratory distress, Laryngotracheomalacia, Respiratory ... ORPHA:1199
Poems Syndrome
Acrocyanosis, Papilledema ORPHA:2905
Shwachman-Diamond Syndrome 1
Respiratory distress, Neonatal respiratory distress OMIM:260400
Familial Dysautonomia
Acrocyanosis, Optic atrophy, Orthostatic hypotension ORPHA:1764
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress OMIM:274150
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:264580
Colchicine Poisoning
Respiratory distress, Cardiorespiratory arrest ORPHA:31824
Myasthenia Gravis
Acrocyanosis ORPHA:589
Pachyonychia Congenita
Respiratory distress ORPHA:2309
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Acrocyanosis, Orthostatic hypotension OMIM:223900
Histiocytoid Cardiomyopathy
Optic atrophy, Cyanosis ORPHA:137675
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Mgat2-Cdg
Respiratory distress ORPHA:79329
Congenital Tracheal Stenosis
Wheezing, Upper airway obstruction, Respiratory distress, Dyspnea, Neonatal asphyxia ORPHA:141127
Toxic Epidermal Necrolysis
Restrictive ventilatory defect, Respiratory distress, Cough ORPHA:537
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Interstitial pneumonitis, Pneumonia ORPHA:37042
Atrial Septal Defect, Ostium Primum Type
Cyanosis ORPHA:99106
Unilateral Polymicrogyria
Cyanosis, Giant somatosensory evoked potentials ORPHA:268943
Stüve-Wiedemann Syndrome
Respiratory distress, Apnea, Asthma, Abnormal autonomic nervous system physiology ORPHA:3206
Lysinuric Protein Intolerance
Abnormal circulating serine concentration, Decreased HDL cholesterol concentration, Increased LDL... ORPHA:470
Isolated Arrhinia
Respiratory distress ORPHA:1134
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Primary Hyperoxaluria
Acrocyanosis, Optic atrophy, Cutis marmorata, Optic disc pallor ORPHA:416
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Cyanosis, Palate telangiectasia, Lip telangiectasia, Nasal mucosa te... OMIM:610655
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:151660
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:90674
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Apnea ORPHA:17
Coccidioidomycosis
Pneumonia, Cough, Pleural empyema, Respiratory distress, Exudative pleural effusion ORPHA:228123
Prader-Willi Syndrome Due To Translocation
Respiratory distress ORPHA:177907
Atrial Septal Defect, Coronary Sinus Type
Cyanosis ORPHA:99104
Adnp Syndrome
Respiratory distress, Aspiration ORPHA:404448
Ear-Patella-Short Stature Syndrome
Respiratory failure, Respiratory distress, Dyspnea ORPHA:2554
Meier-Gorlin Syndrome 1
Respiratory distress OMIM:224690
Severe Generalized Junctional Epidermolysis Bullosa
Stridor, Pneumonia, Pneumothorax, Respiratory distress, Respiratory failure, Dyspnea ORPHA:79404
Heterotaxy, Visceral, 1, X-Linked
Cyanosis OMIM:306955
Scimitar Syndrome
Respiratory distress, Pneumothorax, Pulmonary arterial hypertension, Cough ORPHA:185
Gaisböck Syndrome
Hyperproteinemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Increased circulatin... ORPHA:90041
Osteoglophonic Dysplasia
Respiratory distress OMIM:166250
Telangiectasia, Hereditary Hemorrhagic, Type 2
Fingerpad telangiectases, Conjunctival telangiectasia, Nail bed telangiectasia, Cyanosis, Gastroi... OMIM:600376
Listeriosis
Respiratory failure, Respiratory distress, Pneumonia ORPHA:533
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cyanosis, Abnormal autonomic nervous system physiology ORPHA:293987
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Rhinitis, Respiratory distress OMIM:305100
Atrial Septal Defect, Ostium Secundum Type
Cyanosis ORPHA:99103
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Hyponatremia, Hypercholesterolemia, Xanthelasma, Steatorrhea, Hypertriglyceridemia ORPHA:275761
Pitt-Hopkins Syndrome
Acrocyanosis, Aganglionic megacolon ORPHA:2896
Arboleda-Tham Syndrome
Respiratory distress, Neonatal respiratory distress OMIM:616268
Kasabach-Merritt Syndrome
Respiratory distress, Hypopnea ORPHA:2330
Eisenmenger Syndrome
Wheezing, Hypoxemia, Pulmonary arterial hypertension, Exertional dyspnea, Respiratory distress, M... ORPHA:97214
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Postinfectious Vasculitis
Palpable purpura, Vasculitis in the skin, Acrocyanosis, Cutis marmorata, Abnormality of the perip... ORPHA:48435
Absence Of The Pulmonary Artery
Hypocapnia, Cyanosis ORPHA:980
Telangiectasia, Hereditary Hemorrhagic, Type 1
Fingerpad telangiectases, Hypoxemia, Conjunctival telangiectasia, Telangiectasia of the skin, Nai... OMIM:187300
Gitelman Syndrome
Respiratory distress, Muscle weakness ORPHA:358
Schinzel-Giedion Syndrome
Respiratory distress, Aganglionic megacolon, Recurrent pneumonia ORPHA:798
Cleidocranial Dysplasia
Respiratory distress, Neonatal respiratory distress OMIM:119600
Microphthalmia With Linear Skin Defects Syndrome
Respiratory failure, Respiratory distress, Dyspnea ORPHA:2556
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Cyanosis, Premature skin wrinkling, Generalized abnormality ... ORPHA:740
Leptospirosis
Respiratory distress, Pleural effusion, Cough, Papilledema ORPHA:509
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperlipidemia, Hyperuricemia, Hypercholesterolemia, Xanthelasma, Hypertriglyceridemia ORPHA:79259
Aortic Arch Interruption