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Gene: Scn2a MGI:98248

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

sodium channel, voltage-gated, type II, alpha

Synonyms:

Scn2a1, A230052E19Rik, Nav1.2

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Scn2a 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.

Human diseases associated with Scn2a (10 diseases)
Human diseases predicted to be associated with Scn2a (798 diseases)

The table below shows human diseases associated to Scn2a by orthology or direct annotation.

Disease	Matching phenotypes	Source
Seizures, Benign Familial Infantile, 3	Normal interictal EEG, Cyanosis, Apnea	OMIM:607745
Benign Familial Infantile Epilepsy	Normal interictal EEG, Cyanosis, Apnea, Interictal epileptiform activity	ORPHA:306
Dravet Syndrome	Impulsivity, Multifocal epileptiform discharges, EEG with generalized epileptiform discharges, EE...	ORPHA:33069
Benign Familial Neonatal-Infantile Seizures	Continuous spike and waves during slow sleep, EEG with focal spikes, Apnea	ORPHA:140927
Early Infantile Epileptic Encephalopathy	Hyperactivity, EEG with burst suppression, Hypsarrhythmia, Choreoathetosis, Self-injurious behavi...	ORPHA:1934
Infantile Spasms Syndrome	Hypsarrhythmia	ORPHA:3451
Malignant Migrating Focal Seizures Of Infancy	Failure to thrive, Multifocal epileptiform discharges, Hypsarrhythmia	ORPHA:293181
Generalized Epilepsy With Febrile Seizures-Plus	Obsessive-compulsive trait, Ataxia, EEG with spike-wave complexes	ORPHA:36387
Episodic Ataxia, Type 9	Episodic ataxia	OMIM:618924
Developmental And Epileptic Encephalopathy 11		OMIM:613721

The table below shows human diseases predicted to be associated to Scn2a by phenotypic similarity.

Disease	Matching phenotypes	Source
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Autism, Susceptibility To, 20	Attention deficit hyperactivity disorder, Compulsive behaviors, Impaired social interactions	OMIM:618830
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	EEG abnormality, Hyperactivity, Abnormal social behavior	ORPHA:436151
Autism	Restrictive behavior, Impaired ability to form peer relationships, EEG abnormality, Abnormal repe...	OMIM:209850
Autism, Susceptibility To, 8	Restrictive behavior, Impaired ability to form peer relationships, EEG abnormality, Abnormal repe...	OMIM:607373
Methemoglobinemia, Beta Type	Cyanosis, Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis, Methemoglobinemia	OMIM:617973
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Unsteady gait, Impaired ability to form peer relationships, EEG abnormality...	OMIM:608636
Asperger Syndrome, Susceptibility To, 1	Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships...	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships...	OMIM:608631
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Cyanosis, Neutrophilia, Anorexia, Crackles, Nonprod...	ORPHA:1302
Intellectual Developmental Disorder, Autosomal Recessive 66	Gait ataxia, Attention deficit hyperactivity disorder, Aggressive behavior, Shyness	OMIM:618221
Ravine Syndrome	Apnea, Abnormal auditory evoked potentials, Anorexia, Atrophy/Degeneration affecting the brainste...	ORPHA:99852
Seizures, Benign Familial Infantile, 3	Normal interictal EEG, Cyanosis, Apnea	OMIM:607745
Cyanosis, Transient Neonatal	Reticulocytosis, Cyanosis, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Pulmonary Blastoma	Cough, Dyspnea, Recurrent pneumonia, Weight loss	ORPHA:64741
Perching Syndrome	Respiratory distress, Cyanosis, Dysphagia	OMIM:617055
Pyknoachondrogenesis	Stillbirth	OMIM:265880
Seizures, Benign Familial Infantile, 1	Normal interictal EEG, Cyanosis, Apnea	OMIM:601764
Intellectual Developmental Disorder With Autism And Speech Delay	Inability to walk, Abnormal repetitive mannerisms, Impaired social interactions	OMIM:606053
Laryngotracheal Angioma	Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough, Failure to thrive	OMIM:263000
Idiopathic Achalasia	Wheezing, Dysphagia, Weight loss, Cough, Recurrent aspiration pneumonia	ORPHA:930
Chronic Pneumonitis Of Infancy	Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea...	ORPHA:91359
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Aspiration pneumonia	ORPHA:141152
Hereditary Geniospasm	EEG abnormality, Abnormal social behavior	ORPHA:53372
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Laryngotracheoesophageal Cleft	Neonatal respiratory distress, Cyanosis, Cough, Dyspnea, Stridor, Choking episodes, Impaired orop...	ORPHA:2004
High Altitude Pulmonary Edema	Orthopnea, Cyanosis, Anorexia, Crackles, Dyspnea, Leukocytosis, Tachypnea, Hypoxemia, Cough	ORPHA:330012
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Failure to thrive, Cyanosis	ORPHA:91130
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Hemoglobin E-Beta-Thalassemia Syndrome	Abnormal hemoglobin, Anemia	ORPHA:231249
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo...	ORPHA:70589
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Abnormal repetitive mannerisms, Hypsarrhythmia	OMIM:616341
Pleural Mesothelioma	Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Dysphagia, Weight loss, Co...	ORPHA:50251
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis, Methemoglobinemia, Polycythemia, Exertional dyspnea	OMIM:250800
Acute Myelomonocytic Leukemia	Eosinophilia, Dyspnea, Leukocytosis, Thrombocytopenia, Weight loss, Anemia	ORPHA:517
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Classic Glucose Transporter Type 1 Deficiency Syndrome	Central apnea, EEG abnormality, Cyanosis, Abnormal erythrocyte morphology	ORPHA:71277
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Breath-Holding Spells	Iron deficiency anemia, Cyanosis	OMIM:607578
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Dyspnea, Acute leukemia, Neutropenia, Bruising susceptibility, H...	ORPHA:231401
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Mantle Cell Lymphoma	Splenomegaly, Anorexia, Weight loss	ORPHA:52416
Recurrent Respiratory Papillomatosis	Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction...	ORPHA:60032
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Obesity-Hypoventilation Syndrome	Hypoventilation, Cyanosis, Obesity	OMIM:257500
Tuberculosis	Cough, Weight loss	ORPHA:3389
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Abnormal motor nerve conduction velocity, Respiratory insufficiency, Restri...	OMIM:614399
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Failure to thrive in in...	ORPHA:264675
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Hereditary Methemoglobinemia	Methemoglobinemia, Cyanosis, Small for gestational age, Exertional dyspnea	ORPHA:621
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Stuve-Wiedemann Syndrome 2	Respiratory distress, Stillbirth, Dysphagia, Neonatal death, Pulmonary arterial hypertension, Thr...	OMIM:619751
Laryngeal Neuroendocrine Tumor	Exertional dyspnea, Weight loss, Anorexia, Oral-pharyngeal dysphagia	ORPHA:100083
Laryngeal Abductor Paralysis	Stridor, Cyanosis, Dysphagia	OMIM:150260
Benign Familial Infantile Epilepsy	Normal interictal EEG, Cyanosis, Apnea, Interictal epileptiform activity	ORPHA:306
Lennox-Gastaut Syndrome	Hyperactivity, Aggressive behavior, Abnormal brainstem morphology, EEG abnormality, EEG with foca...	ORPHA:2382
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezing, Bronchiectasis, Weight los...	ORPHA:79127
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia	ORPHA:46532
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu...	ORPHA:140896
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap...	OMIM:254210
Neuralgic Amyotrophy	Acrocyanosis, Respiratory insufficiency	ORPHA:2901
Phosphoserine Aminotransferase Deficiency	Cyanotic episode, Apnea	OMIM:610992
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Respiratory failure, Neonatal...	OMIM:265120
Primary Familial Polycythemia	Abnormal hemoglobin, Epistaxis, Dyspnea, Cough, Polycythemia, Exertional dyspnea	ORPHA:90042
Bullous Dystrophy, Hereditary Macular Type	Acrocyanosis	OMIM:302000
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Slc35A1-Cdg	Respiratory distress, Subcutaneous hemorrhage, Pneumonia, Giant platelets, Hypoxemia, Neutropenia...	ORPHA:238459
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Cyanosis, Splenomegaly, Chronic pulmonary obstruction, Cough, Pulmonary art...	ORPHA:2414
Acquired Methemoglobinemia	Respiratory distress, Cyanosis, Dyspnea, Hypoxemia, Methemoglobinemia	ORPHA:464453
Immunodeficiency 95	Respiratory distress, Respiratory failure, Lymphopenia, Recurrent viral pneumonia	OMIM:619773
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Broad-based gait, Focal EEG discharges with secondary generalization, Anorexia, Ag...	ORPHA:3077
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap...	OMIM:605809
Gaucher Disease Type 2	Respiratory distress, Splenomegaly, Dysphagia, Cough, Abnormal pattern of respiration	ORPHA:77260
Pneumocystosis	Respiratory failure requiring assisted ventilation, Abnormal neutrophil count, Nonproductive coug...	ORPHA:723
Choanal Atresia	Respiratory distress, Cyanosis, Upper airway obstruction, Choking episodes, Tracheomalacia, Chron...	ORPHA:137914
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Red...	OMIM:610913
Autism, Susceptibility To, 3	Restrictive behavior, Impaired ability to form peer relationships, EEG abnormality, Abnormal repe...	OMIM:608049
Asbestos Intoxication	Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wh...	ORPHA:2302
Benign Familial Neonatal Epilepsy	Circumoral cyanosis, Apnea, Focal EEG discharges with secondary generalization, Increased theta f...	ORPHA:1949
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Paraseptal emphysema, Neonatal respiratory distress, Cyanosis, Apnea, Nonsp...	OMIM:610921
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Hy...	ORPHA:232
Combined Oxidative Phosphorylation Defect Type 23	Cyanosis, Abnormal brainstem MRI signal intensity, Stridor, Respiratory failure, Paroxysmal dyspn...	ORPHA:444013
Pulmonary Alveolar Proteinosis, Acquired	Cyanosis, Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restrictive ventilatory defect, Co...	OMIM:610910
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, C...	ORPHA:1164
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Sideroblastic anemia, Respiratory insufficiency due to muscle weakness, Dys...	OMIM:613561
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal eating behavior, Compulsive behaviors, ...	ORPHA:101039
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumotho...	ORPHA:36238
Idiopathic Chronic Eosinophilic Pneumonia	Crackles, Nonproductive cough, Dyspnea, Wheezing, Asthma, Leukocytosis, Hypereosinophilia, Weight...	ORPHA:2902
Autoimmune Pulmonary Alveolar Proteinosis	Cyanosis, Crackles, Dyspnea, Weight loss, Hypoxemia, Restrictive ventilatory defect, Cough, Decre...	ORPHA:747
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome	Abnormal brainstem MRI signal intensity, Restlessness, Respiratory insufficiency	ORPHA:263410
Diffuse Alveolar Hemorrhage	Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Leukocytosis, Thromb...	ORPHA:90060
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta...	ORPHA:411703
Primary Pulmonary Hypoplasia	Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restr...	ORPHA:2257
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior	ORPHA:208441
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea...	ORPHA:1303
Malaria	Respiratory distress, Anemia, Thrombocytopenia	ORPHA:673
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Idiopathic Bronchiectasis	Cachexia, Crackles, Productive cough, Dyspnea, Wheezing, Bronchiectasis, Abnormal respiratory sys...	ORPHA:60033
Chronic Hiccup	Weight loss, Abnormal eating behavior	ORPHA:396
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Respiratory insufficiency due to muscle weakness, Decreased body weight	OMIM:300580
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
N-Acetylglutamate Synthase Deficiency	Respiratory distress, Failure to thrive, Aggressive behavior	OMIM:237310
Infant Acute Respiratory Distress Syndrome	Cyanosis, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:70587
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Dyspnea, Abnormality on pulmonary function testing, Abnormal ...	ORPHA:133
Undifferentiated Pleomorphic Sarcoma	Anorexia, Weight loss	ORPHA:2023
Muscular Hypertonia, Lethal	Respiratory distress, Pneumonia	OMIM:254120
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Failure to thrive in infancy, Respiratory insufficiency due to muscle weakn...	ORPHA:254875
Acute Interstitial Pneumonia	Cyanosis, Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respirato...	ORPHA:79126
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress, Failure to thrive, Cachexia, Weight loss	OMIM:612075
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Upper airway obstruction, Dysphagia, Weight loss, Stridor, Cough	ORPHA:142
Isaacs Syndrome	EEG abnormality, Weight loss	ORPHA:84142
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Anorexia, Thrombocytopenia, Splenomegaly, Neutropenia, Failure to thrive, A...	ORPHA:79312
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Cleft Larynx, Posterior	Aspiration, Cyanosis	OMIM:215800
Immunodeficiency 27A	Abnormal bronchus physiology, Pneumonia, Anorexia, Splenomegaly, Leukocytosis, Weight loss, Hepat...	OMIM:209950
Ethylmalonic Encephalopathy	Abnormal brainstem MRI signal intensity, Failure to thrive, Acrocyanosis, Petechiae	ORPHA:51188
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Respiratory insufficiency	ORPHA:238329
Acute Lung Injury	Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure, Addictive al...	ORPHA:178320
Bardet-Biedl Syndrome 16	Respiratory distress, Obesity	OMIM:615993
Galactose Epimerase Deficiency	Splenomegaly, Jaundice, Weight loss	ORPHA:79238
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia	OMIM:245590
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:1832
Postsynaptic Congenital Myasthenic Syndromes	Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,...	ORPHA:98913
Acute Promyelocytic Leukemia	Pancytopenia, Epistaxis, Anorexia, Productive cough, Thrombocytopenia, Leukocytosis, Weight loss,...	ORPHA:520
Sepsis In Premature Infants	Cyanosis, Small for gestational age, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal fla...	ORPHA:90051
Succinic Acidemia	Respiratory distress	OMIM:600335
Holocarboxylase Synthetase Deficiency	Respiratory distress, Anorexia, Tachypnea, Weight loss, Thrombocytopenia	ORPHA:79242
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress	OMIM:619099
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea	OMIM:267450
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress, Failure to thrive	OMIM:300934
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Respiratory insufficiency...	ORPHA:848
Hsd10 Disease	Ataxia, Choreoathetosis, Gait disturbance, Dysphagia, Abnormal social behavior	ORPHA:391417
Hypoadrenocorticism, Familial	Cyanosis, Apnea	OMIM:240200
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Failure to thrive	ORPHA:26792
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Anorexia, Weight loss	ORPHA:86893
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Anorexia, Leukocytosis, Weight loss, Lymphocytosis, Hypochromic anemia,...	ORPHA:514
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Dyspnea, Erythroid hypopla...	ORPHA:98826
Congenital Disorder Of Glycosylation, Type Ie	Respiratory distress, Splenomegaly, Telangiectasia, EEG abnormality, Pontocerebellar atrophy, Fai...	OMIM:608799
Dravet Syndrome	Impulsivity, Multifocal epileptiform discharges, EEG with generalized epileptiform discharges, EE...	ORPHA:33069
Laryngomalacia	Respiratory distress, Congenital laryngeal stridor	OMIM:150280
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance	OMIM:619466
Meconium Aspiration Syndrome	Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,...	ORPHA:70588
11Q22.2Q22.3 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Abnormal social behavior, Compulsive behaviors	ORPHA:444002
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	EEG with polyspike wave complexes, Cyanotic episode, Failure to thrive in infancy, EEG with focal...	ORPHA:284417
Eosinophilic Fasciitis	Acrocyanosis, Abnormal eosinophil morphology, Eosinophilia, Weight loss	ORPHA:3165
Avian Influenza	Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum...	ORPHA:454836
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Angioedema, Erythema, Upper airway obstruction, Urticaria	ORPHA:100057
Folinic Acid-Responsive Seizures	Respiratory distress, Apnea, Multifocal epileptiform discharges, Hypsarrhythmia, EEG with general...	ORPHA:79097
Oculopharyngodistal Myopathy	Oral-pharyngeal dysphagia, Respiratory insufficiency due to muscle weakness, Weight loss, Restric...	ORPHA:98897
Pulmonary Arteriovenous Malformation	Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Iron deficiency anemia, Pleural empyema,...	ORPHA:2038
Triosephosphate Isomerase Deficiency	Respiratory distress, Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Respiratory insuffi...	OMIM:615512
Thyroid Lymphoma	Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Dysphagia	ORPHA:97285
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress, Neuromuscular dysphagia	ORPHA:240085
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Anorexia, Thrombocytopenia, Splenomegaly, Weight lo...	ORPHA:507
Mitochondrial Phosphate Carrier Deficiency	Cyanosis, Respiratory insufficiency	OMIM:610773
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	EEG abnormality, Cyanosis, Apnea	OMIM:261680
Congenital Tracheomalacia	Neonatal respiratory distress, Cyanosis, Apnea, Intercostal retractions, Pneumonia, Productive co...	ORPHA:95430
Reticular Dysgenesis	Abnormality of neutrophils, Weight loss, Leukopenia, Failure to thrive, Anemia	ORPHA:33355
Congenital Myasthenic Syndrome	EEG with polyspike wave complexes, Cyanosis, Sudden episodic apnea, Intermittent episodes of resp...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	EEG with polyspike wave complexes, Cyanosis, Sudden episodic apnea, Intermittent episodes of resp...	ORPHA:98914
Congenital Diaphragmatic Hernia	Hypoxemia, Respiratory distress	ORPHA:2140
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Failure to thrive	OMIM:616974
Mu-Heavy Chain Disease	Splenomegaly, Abnormal B cell count, Anemia, Weight loss	ORPHA:100024
Restrictive Dermopathy 2	Respiratory distress, Cyanosis	OMIM:619793
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Joubert Syndrome 7	Central apnea, Brainstem dysplasia, Episodic tachypnea, Tachypnea, Hypoplasia of the brainstem, M...	OMIM:611560
Stt3B-Cdg	Respiratory distress, Failure to thrive, Thrombocytopenia	ORPHA:370924
Spinocerebellar Ataxia Type 1	Atrophy/Degeneration affecting the brainstem, Abnormal brainstem morphology, Respiratory failure,...	ORPHA:98755
Methemoglobinemia And Ambiguous Genitalia	Cyanosis, Methemoglobinemia	OMIM:250790
Childhood Absence Epilepsy	Depression, Punding, Attention deficit hyperactivity disorder, Abnormal social behavior, EEG with...	ORPHA:64280
Primary Myelofibrosis	Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Anorexia, Cachexia, Thrombocytopenia,...	ORPHA:824
Multicentric Reticulohistiocytosis	Cachexia, Histiocytosis	ORPHA:139436
Huntington Disease	Aggressive behavior, Oral-pharyngeal dysphagia, Weight loss, Addictive alcohol use, Agitation, Co...	ORPHA:399
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Failure to thrive, Thrombocytopenia	OMIM:615597
Perry Syndrome	Hypoventilation, Central hypoventilation, Respiratory insufficiency, Weight loss, Inappropriate b...	OMIM:168605
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cyanosis, Apnea, Impulsivity, Aggressive behavior, Tongue thrusting, Attention deficit hyperactiv...	OMIM:619580
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress, Restlessness, Interictal EEG abnormality, EEG with focal epileptiform disch...	ORPHA:544503
Nipah Virus Disease	Respiratory distress, Anorexia, Cough	ORPHA:99825
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox...	OMIM:610978
Oromandibular Dystonia	Respiratory distress, Weight loss, Dysphagia, Bruxism	ORPHA:93958
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Weight loss, Dysphagia	ORPHA:2198
Joubert Syndrome 20	Molar tooth sign on MRI, Self-mutilation, Respiratory insufficiency, Aggressive behavior	OMIM:614970
Buerger Disease	Acrocyanosis	ORPHA:36258
Chiari Malformation Type Ii	Cyanosis, Inspiratory stridor, Dysphagia	OMIM:207950
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Apneic episodes in infancy, Abnormal brainstem morphology, Episodic tachypnea, Dysphagia	ORPHA:163961
Wilson Disease	Failure to thrive, Aggressive behavior, Hypersexuality, Jaundice, Thrombocytopenia, Splenomegaly,...	ORPHA:905
Aggressive Systemic Mastocytosis	Pancytopenia, Anorexia, Hypersplenism, Thrombocytopenia, Leukocytosis, Weight loss, Urticaria, He...	ORPHA:98850
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress	OMIM:617977
Central Diabetes Insipidus	Polydipsia, Failure to thrive, Anorexia, Weight loss	ORPHA:178029
Tricuspid Atresia	Cyanosis	ORPHA:1209
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea, Large for gestational age	ORPHA:45452
Classic Hodgkin Lymphoma	Anorexia, Splenomegaly, Respiratory insufficiency, Weight loss, Cough	ORPHA:391
Diamond-Blackfan Anemia 6	Macrocytic anemia, Persistence of hemoglobin F, Increased mean corpuscular volume, Tracheomalacia...	OMIM:612561
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Familial Nasal Acilia	Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis	ORPHA:922
Gómez-López-Hernández Syndrome	Abnormal brainstem morphology	ORPHA:1532
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
Bronchial Neuroendocrine Tumor	Pneumonia, Anorexia, Nonproductive cough, Dyspnea, Asthma, Wheezing, Weight loss, Bronchospasm, F...	ORPHA:97287
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Progressive Supranuclear Palsy	Impulsivity, Unsteady gait, Depression, Abnormal synaptic transmission, Falls, Dysphagia	ORPHA:683
Pulmonary Capillary Hemangiomatosis	Cyanosis, Dyspnea, Hemothorax, Hypoxemia, Elevated pulmonary artery pressure, Decreased DLCO, Ple...	ORPHA:199241
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w...	ORPHA:254864
Eosinophilic Gastroenteritis	Allergic rhinitis, Eosinophilia, Leukocytosis, Asthma, Weight loss, Dysphagia, Anemia	ORPHA:2070
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress, Thrombocytopenia, Anemia, Neutropenia	ORPHA:289916
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Failure to thrive, Abnormal brainstem morphology	ORPHA:255182
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis	ORPHA:2400
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Recurrent sinusitis, Neutropenia,...	OMIM:618849
Pontocerebellar Hypoplasia Type 10	Abnormal brainstem morphology	ORPHA:411493
Hereditary Central Diabetes Insipidus	Polydipsia, Weight loss	ORPHA:30925
Pulmonary Alveolar Microlithiasis	Cyanosis, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneum...	ORPHA:60025
Tularemia	Respiratory distress, Pneumonia, Thrombocytopenia, Leukocytosis, Cough, Pleural effusion, Anemia	ORPHA:3392
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Failure to thrive in infancy, Decreased mean corpuscular hemoglobin...	ORPHA:231226
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress, Dysphagia	ORPHA:240103
Lamb-Shaffer Syndrome	Hyperactivity, Ataxia, Abnormal temper tantrums, Abnormal social behavior, Abnormal repetitive ma...	ORPHA:530983
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Congenital Heart Block	Pleural effusion, Cyanosis, Crackles	ORPHA:60041
Lymphoid Interstitial Pneumonia	Crackles, Dyspnea, Wheezing, Bronchiectasis, Weight loss, Hypoxemia, Restrictive ventilatory defe...	ORPHA:79128
Deafness-Lymphedema-Leukemia Syndrome	Abnormal neutrophil count, Splenomegaly, Leukocytosis, Weight loss, Acute leukemia, Respiratory f...	ORPHA:3226
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Respiratory failure, Interictal epileptiform activity, Dysphagia	OMIM:620166
Rhabdoid Tumor	Anemia, Thrombocytopenia, Respiratory insufficiency, Weight loss	ORPHA:69077
Takayasu Arteritis	Anorexia, Weight loss, Pulmonary arterial hypertension, Abnormal pattern of respiration, Anemia	ORPHA:3287
Beta-Thalassemia Major	Extramedullary hematopoiesis, Failure to thrive in infancy, Decreased mean corpuscular hemoglobin...	ORPHA:231214
Hsd10 Disease, Infantile Type	Restlessness, Cyanosis, Paroxysmal bursts of laughter, Dysphagia	ORPHA:391428
Polymicrogyria Due To Tubb2B Mutation	Hypoplasia of the pons, Attention deficit hyperactivity disorder, Abnormal brainstem morphology, ...	ORPHA:300573
Congenitally Uncorrected Transposition Of The Great Arteries	Cyanosis, Small for gestational age, Tachypnea, Hypoxemia, Failure to thrive	ORPHA:860
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Failure to thrive, Bruising susceptibility, HbH hemoglobin, Microcytic anemia	ORPHA:98791
Shwachman-Diamond Syndrome 1	Respiratory distress, Acute myeloid leukemia, Neonatal respiratory distress, Pancytopenia, Small ...	OMIM:260400
Congenital Laryngeal Web	Respiratory distress, Stridor	ORPHA:2374
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Small for gestational age	OMIM:616733
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Cyanosis, Small for gestational age, Tachypne...	ORPHA:555874
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom...	ORPHA:231222
Complete Atrioventricular Septal Defect	Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p...	ORPHA:1329
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress, Reticulocytosis, Jaundice, Schistocytosis, Microangiopathic hemolytic anemi...	OMIM:274150
Encephalopathy, Ethylmalonic	Failure to thrive, Acrocyanosis, Petechiae	OMIM:602473
Thymoma	Aplastic anemia, Pure red cell aplasia, Dyspnea, Imbalanced hemoglobin synthesis, Weight loss, Co...	ORPHA:99867
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress	OMIM:614741
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea	OMIM:614669
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:613662
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased motor nerve conduction velocity, Cachexia, Weight loss, Dysphagia, Decreased sensory ne...	ORPHA:298
Gaucher Disease, Perinatal Lethal	Respiratory distress, Apnea, Thrombocytopenia, Splenomegaly, Dysphagia, Hepatosplenomegaly, Anemi...	OMIM:608013
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress, Failure to thrive, Agitation, Abnormal repetitive mannerisms	ORPHA:927
Primary Dystonia, Dyt4 Type	Eunuchoid habitus, Respiratory distress, Dysphagia	ORPHA:98805
Myasthenia Gravis	Hemolytic anemia, Pure red cell aplasia, Dyspnea, Dysphagia, Acrocyanosis	ORPHA:589
Follicular Lymphoma	Splenomegaly, Pleural effusion, Weight loss	ORPHA:545
Erythrokeratodermia Variabilis	Erythema, Cutaneous photosensitivity, Weight loss	ORPHA:317
Thymic Carcinoma	Cough, Dyspnea, Weight loss	ORPHA:99868
Myopathy And Diabetes Mellitus	Respiratory distress	ORPHA:2596
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress, Hypoplastic spleen, Dysphagia	ORPHA:89844
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress, Failure to thrive	ORPHA:261304
20Q11.2 Microdeletion Syndrome	Brainstem dysplasia	ORPHA:444051
Insulin Autoimmune Syndrome	Weight loss	ORPHA:411593
Eosinophilic Granulomatosis With Polyangiitis	Sinusitis, Cutis marmorata, Eosinophilia, Cough, Asthma, Respiratory insufficiency, Weight loss, ...	ORPHA:183
Perry Syndrome	Central hypoventilation, Weight loss	ORPHA:178509
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia	ORPHA:596
Hypoglossia With Situs Inversus	Respiratory distress, Polysplenia, Upper airway obstruction, Asplenia	OMIM:612776
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cyanosis, Failure to thrive in infancy, Dysphagia, Aggressive behavior	ORPHA:488627
Tetrasomy 5P	Respiratory distress, Pulmonary arterial hypertension, Failure to thrive, Cyanosis	ORPHA:3309
Riboflavin Transporter Deficiency	Cachexia, Respiratory insufficiency, Dysphagia, Aggressive behavior	ORPHA:97229
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Dyspnea, Cough	ORPHA:86812
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Neonatal respiratory distress	OMIM:615042
Septopreoptic Holoprosencephaly	Hypoplasia of the pons, Abnormal midbrain morphology, Impulsivity, Dysphagia	ORPHA:280195
Classic Pantothenate Kinase-Associated Neurodegeneration	Dysphagia, Weight loss, Aspiration pneumonia, Cough, Attention deficit hyperactivity disorder	ORPHA:216866
Esophageal Atresia	Respiratory distress, Cyanosis, Small for gestational age, Failure to thrive in infancy, Episodic...	ORPHA:1199
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea, Failure to thrive	OMIM:618426
Isolated Right Ventricular Hypoplasia	Hypoxemia, Dyspnea, Cyanosis	ORPHA:439
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Weight loss	ORPHA:66661
Japanese Encephalitis	Respiratory distress, Decreased motor nerve conduction velocity, Neutrophilia, Abnormal substanti...	ORPHA:79139
Benign Recurrent Intrahepatic Cholestasis	Jaundice, Anorexia, Weight loss	ORPHA:65682
Graves Disease, Susceptibility To, 1	Hyperactivity, Polyphagia, Weight loss	OMIM:275000
Congenital Fibrinogen Deficiency	Splenic rupture, Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage	ORPHA:335
Mulibrey Nanism	Cachexia	ORPHA:2576
Lethal Recessive Chondrodysplasia	Respiratory distress	ORPHA:1423
Alexander Disease Type I	Failure to thrive, Cachexia, Dysphagia	ORPHA:363717
Rett Syndrome	Intermittent hyperventilation, Apnea, Cachexia, EEG abnormality, Bruxism, Stereotypical hand wrin...	OMIM:312750
Toxic Epidermal Necrolysis	Respiratory distress, Cough, Thrombocytopenia, Erythema, Neutropenia, Weight loss, Restrictive ve...	ORPHA:537
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory in...	OMIM:211530
Developmental And Epileptic Encephalopathy 68	Respiratory distress, Failure to thrive	OMIM:618201
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Respiratory insufficiency due to muscle weakness	ORPHA:1143
Majeed Syndrome	Cachexia, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Hypochromic microcytic anemi...	ORPHA:77297
Bone Dysplasia, Lethal Holmgren Type	Anemia, Failure to thrive, Respiratory insufficiency, Weight loss	ORPHA:1842
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Failure to thrive, Acrocyanosis	OMIM:614407
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, Paradoxical respiration	OMIM:620011
Juvenile Huntington Disease	Hyperactivity, Weight loss	ORPHA:248111
Methylmalonic Aciduria, Cblb Type	Respiratory distress, Pancytopenia, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia	OMIM:251110
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Congenital Muscular Dystrophy Due To Lmna Mutation	Respiratory insufficiency, Cachexia	ORPHA:157973
Atrial Septal Defect, Ostium Primum Type	Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Airway obstruction, Pulmona...	ORPHA:99106
Spinocerebellar Ataxia 48	Cachexia, Dysphagia	OMIM:618093
Lead Poisoning	Small for gestational age, Anorexia, Asthma, Imbalanced hemoglobin synthesis, Abnormal respirator...	ORPHA:330015
3-Hydroxy-3-Methylglutaric Aciduria	Apnea, Anorexia, Jaundice, Tachypnea, Leukocytosis, Weight loss, Hypsarrhythmia, EEG abnormality,...	ORPHA:20
Kasabach-Merritt Syndrome	Respiratory distress, Reticulocytosis, Thrombocytopenia, Hypopnea, Leukopenia, Anemia, Microangio...	ORPHA:2330
Diencephalic Syndrome	Cachexia, Decreased body weight	ORPHA:1672
Double Outlet Right Ventricle	Failure to thrive, Cyanosis, Tachypnea	ORPHA:3426
Pseudomyxoma Peritonei	Respiratory insufficiency, Weight loss	ORPHA:26790
Moebius Syndrome	Respiratory distress, Hypoplasia of the brainstem, Dysphagia	OMIM:157900
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia	OMIM:606763
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress, Leukopenia, Neutropenia, Failure to thrive, Thrombocytopenia	OMIM:251000
Malignant Peritoneal Mesothelioma	Dyspnea, Weight loss	ORPHA:168811
Fatal Familial Insomnia	Weight loss, Apnea, Dysphagia	OMIM:600072
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Respiratory insufficiency, Hepatosplenomegaly, Failure to thrive, Generaliz...	ORPHA:367
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Large for gestational age, Prolonged neonatal jaundice	ORPHA:226313
Bullous Pemphigoid	Urticaria, Erythema, Weight loss	ORPHA:703
Myotonic Dystrophy 1	Respiratory distress, Obsessive-compulsive trait, Dysphagia	OMIM:160900
Early-Onset Autosomal Dominant Alzheimer Disease	Abnormal social behavior, Ataxia, Agitation, Disinhibition	ORPHA:1020
Tubulinopathy-Associated Dysgyria	Hypoplasia of the pons, Abnormal brainstem morphology, Attention deficit hyperactivity disorder	ORPHA:467166
Alternating Hemiplegia Of Childhood	Respiratory distress, Apnea, Anorexia, Aggressive behavior, Oral-pharyngeal dysphagia, Impulsivit...	ORPHA:2131
Diaphanospondylodysostosis	Respiratory distress	ORPHA:66637
Mercury Poisoning	Respiratory distress, Anorexia, Dyspnea, Respiratory failure, Interstitial pneumonitis	ORPHA:330021
Microlissencephaly-Micromelia Syndrome	Respiratory distress, EEG abnormality, Failure to thrive	ORPHA:50810
Huntington Disease-Like 1	EEG abnormality, Restlessness, Weight loss	ORPHA:157941
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Dyspnea, Angioedema, Erythema, Weight loss, Interstitial pneumonitis, Lymphocytosis...	ORPHA:139402
Christianson Syndrome	Abnormal repetitive mannerisms, Inappropriate laughter, Cachexia, Dysphagia	ORPHA:85278
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Respiratory failure, Tachypnea, Respiratory insufficiency	OMIM:614299
Oculopharyngodistal Myopathy 1	Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t...	OMIM:164310
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Severe failure to thrive, Cyanosis	ORPHA:3304
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F, Self-injurious behavior, Recurrent hand flapping	OMIM:617101
Acquired Central Diabetes Insipidus	Polydipsia, Weight loss	ORPHA:95626
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Inappropriate behavior	ORPHA:309246
Aicardi-Goutieres Syndrome 1	Thrombocytopenia, Splenomegaly, Erythema, Prolonged neonatal jaundice, Acrocyanosis, Self-mutilat...	OMIM:225750
Poems Syndrome	Thrombocytosis, Respiratory insufficiency due to muscle weakness, Weight loss, Restrictive ventil...	ORPHA:2905
Metachromatic Leukodystrophy, Late Infantile Form	Decreased nerve conduction velocity, Gait ataxia, Progressive gait ataxia, Tip-toe gait, Emotiona...	ORPHA:309256
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, EEG abnormality, Aspiration pn...	ORPHA:314655
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Fail...	OMIM:220110
X-Linked Agammaglobulinemia	Sinusitis, Thrombocytopenia, Recurrent pneumonia, Weight loss, Neutropenia, Failure to thrive, An...	ORPHA:47
Huntington Disease-Like 2	Weight loss	OMIM:606438
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Carnitine-Acylcarnitine Translocase Deficiency	Cyanosis, Sudden episodic apnea, Respiratory insufficiency	ORPHA:159
Autosomal Dominant Epidermolytic Ichthyosis	Cutaneous photosensitivity, Weight loss	ORPHA:312
Q Fever	Respiratory distress, Pneumonia, Anorexia, Thrombocytopenia, Splenomegaly, Weight loss, Hepatospl...	ORPHA:781
Beta-Ketothiolase Deficiency	Thrombocytosis, Anorexia, Leukocytosis, Tachypnea, Weight loss, Agitation, Cough, Oral aversion	ORPHA:134
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Small for gestational age, Episodic tachypnea, Pneumonia, Overweight, Jaund...	ORPHA:26793
Moynahan Syndrome	Cachexia	ORPHA:2574
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2759
Neuropathy, Congenital Hypomyelinating, 3	Decreased motor nerve conduction velocity, Cachexia, Respiratory insufficiency, Respiratory failu...	OMIM:618186
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Pulmonary embolism, Cough, Neutrophilia, Angioedema, Leukocytosis, Hepatosp...	ORPHA:3260
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Telangiectasia of the skin, Abnormal brainstem morphology, Telangiectasia	ORPHA:79279
Amoebiasis Due To Entamoeba Histolytica	Dyspnea, Leukocytosis, Weight loss, Pleural empyema, Cough, Pleural effusion, Anemia	ORPHA:67
Congenital Enterovirus Infection	Respiratory distress, Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Leukopenia,...	ORPHA:292
Infantile Krabbe Disease	Respiratory distress, Prolonged brainstem auditory evoked potentials, Cachexia, Decreased nerve c...	ORPHA:206436
Myasthenic Syndrome, Congenital, 21, Presynaptic	Cyanosis, Apnea, Respiratory insufficiency	OMIM:617239
Criss-Cross Heart	Cyanosis, Respiratory insufficiency	ORPHA:1461
Systemic Capillary Leak Syndrome	Leukocytosis, Cardiorespiratory arrest, Weight loss, Cough, Pleural effusion, Rhinorrhea	ORPHA:188
Goodpasture Syndrome	Cyanosis, Crackles, Increased DLCO, Tachypnea, Weight loss, Restrictive ventilatory defect, Cough...	OMIM:233450
Brain-Lung-Thyroid Syndrome	Respiratory distress, Hyperactivity, Neonatal respiratory distress, Abnormal eating behavior, Ast...	ORPHA:209905
Peripheral Primitive Neuroectodermal Tumor	Anorexia, Jaundice, Weight loss, Abnormal superior cerebellar peduncle morphology, Anemia	ORPHA:370348
Acquired Purpura Fulminans	Acrocyanosis, Thrombocytopenia, Macular purpura	ORPHA:49566
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Severe failure to thrive, HbH hemoglobin, Prolonged neonatal jaundice	ORPHA:423479
Castleman Disease	Dyspnea, Jaundice, Thrombocytopenia, Weight loss, Decreased mean corpuscular volume, Cough, Anemia	ORPHA:160
Carnitine Deficiency, Systemic Primary	Respiratory distress, Failure to thrive	OMIM:212140
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hypoventilation, Cyanosis, Central hypoventilation, Abnormal midbrain morphology, Aggressive beha...	ORPHA:293987
Atrial Septal Defect, Ostium Secundum Type	Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,...	ORPHA:99103
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress, EEG with burst suppression, Failure to thrive	ORPHA:329178
Felty Syndrome	Sinusitis, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Weight loss, Rhinitis, Neutropeni...	ORPHA:47612
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Hyperactivity, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persisten...	OMIM:617052
Tetanus	Respiratory distress, Tachypnea, Dysphagia	ORPHA:3299
Hereditary Angioedema Type 1	Respiratory distress, Dyspnea, Urticaria, Dermatographic urticaria, Dysphagia, Inspiratory stridor	ORPHA:100050
Ethylene Glycol Poisoning	Cyanosis, Tachypnea, Episodic respiratory distress, Addictive alcohol use, Abnormal pattern of re...	ORPHA:31826
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress, Macrocytic anemia, Granulocytopenia	OMIM:606164
Methylmalonic Aciduria, Cbla Type	Respiratory distress, Pancytopenia, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia	OMIM:251100
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Stridor, Failure to thrive	OMIM:615595
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,...	ORPHA:398063
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Respiratory insufficiency	ORPHA:1145
Waardenburg Syndrome Type 3	Tracheomalacia, Acrocyanosis	ORPHA:896
Stevens-Johnson Syndrome	Abnormality of neutrophils, Dyspnea, Thrombocytopenia, Erythema, Dysphagia, Weight loss, Restrict...	ORPHA:36426
Pfapa Syndrome	Splenomegaly, Weight loss	ORPHA:42642
Unilateral Polymicrogyria	Cyanosis, Apnea, Epistaxis, Pseudobulbar paralysis, Giant somatosensory evoked potentials	ORPHA:268943
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Overweight, Recurrent pneumonia, Persistence of hemoglobin F	OMIM:619769
Familial Acute Necrotizing Encephalopathy	Abnormal brainstem MRI signal intensity, Abnormal brainstem morphology, Abnormal pattern of respi...	ORPHA:88619
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Dyspnea, Respiratory failure, Failure to thrive	ORPHA:2707
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Pulmonary arterial hypertension, Failure to thrive	OMIM:619272
Atrial Septal Defect, Coronary Sinus Type	Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hyperte...	ORPHA:99104
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Elongated superior cerebellar peduncle, Abnormal brainstem morphology	ORPHA:370022
Porphyria Due To Ala Dehydratase Deficiency	Restlessness, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walking	ORPHA:100924
Cronkhite-Canada Syndrome	Anemia, Cachexia, Anorexia, Splenomegaly	ORPHA:2930
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ...	ORPHA:98915
Polymyositis	Anorexia, Respiratory insufficiency, Weight loss, Cough, Exertional dyspnea	ORPHA:732
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Premature graying of hair, Reduced subcutaneous adipose tissue, Cachexia, Weight loss	ORPHA:1979
Loeffler Endocarditis	Cough, Dyspnea, Eosinophilia, Weight loss	ORPHA:75566
Desmoplastic Small Round Cell Tumor	Anemia, Cachexia, Weight loss	ORPHA:83469
Laryngotracheoesophageal Cleft Type 4	Abnormality of the spleen, Respiratory insufficiency, Cachexia	ORPHA:93941
Al Amyloidosis	Howell-Jolly bodies, Nonproductive cough, Dyspnea, Weight loss, Dysphagia, Bruising susceptibilit...	ORPHA:85443
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Autoimmune hemolytic anemia, Failure to thrive in infancy, Pneumonia, Cache...	ORPHA:37042
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Respiratory failure, Neonatal death, Palmoplantar cutis laxa...	OMIM:616482
Attrv30M Amyloidosis	Weight loss	ORPHA:85447
Lujo Hemorrhagic Fever	Respiratory distress, Crackles, Nonproductive cough, Leukocytosis, Leukopenia, Rhinitis, Dysphagi...	ORPHA:319213
Ménétrier Disease	Hypochromic microcytic anemia, Anorexia, Weight loss	ORPHA:2494
Hereditary Bullous Dystrophy, Macular Type	Acrocyanosis, Pneumonia	ORPHA:1867
Nasolacrimal Duct Cyst	Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre...	ORPHA:141083
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Inspiratory stridor, Irregular respiration	OMIM:604377
Neuroendocrine Tumor Of The Colon	Bronchospasm, Weight loss, Facial telangiectasia, Anorexia	ORPHA:100080
47,Xyy Syndrome	Hyperactivity, Impulsivity, Asthma, Abnormal brainstem morphology, Attention deficit hyperactivit...	ORPHA:8
Benign Familial Neonatal-Infantile Seizures	Continuous spike and waves during slow sleep, EEG with focal spikes, Apnea	ORPHA:140927
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Cyanosis, Apnea, EEG with burst suppression, Pleural effusion	OMIM:261740
Diamond-Blackfan Anemia 10	Respiratory distress, Macrocytic anemia, Reticulocytopenia, Steroid-responsive anemia, Anemia	OMIM:613309
Neuroendocrine Tumor Of Stomach	Anorexia, Weight loss, Iron deficiency anemia, Bronchospasm, Facial telangiectasia, Dermatologica...	ORPHA:100075
Joubert Syndrome 2	Central apnea, Brainstem dysplasia, Episodic tachypnea, Thickened superior cerebellar peduncle, H...	OMIM:608091
Polyarteritis Nodosa	Erythema, Cutis marmorata, Weight loss	ORPHA:767
Craniofaciofrontodigital Syndrome	Respiratory distress, Prominent superficial veins, Large for gestational age, Dyspnea, Palmoplant...	ORPHA:363705
Wolman Disease	Anemia, Splenomegaly, Cachexia, Bone-marrow foam cells	ORPHA:75233
Juvenile Dermatomyositis	Telangiectasia of the skin, Cough, Dyspnea, Erythema, Weight loss, Restrictive ventilatory defect...	ORPHA:93672
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes...	ORPHA:348
Double Outlet Left Ventricle	Failure to thrive, Cyanosis, Tachypnea	ORPHA:3427
Chitayat Syndrome	Respiratory distress, Tracheomalacia	OMIM:617180
Odontochondrodysplasia	Respiratory distress	ORPHA:166272
Congenital Muscular Dystrophy With Cerebellar Involvement	Hypoplasia of the pons, Hypoplasia of the brainstem, Abnormal brainstem morphology, Olivopontocer...	ORPHA:370959
Pemphigus Vulgaris	Urticaria, Weight loss	ORPHA:704
Lissencephaly 9 With Complex Brainstem Malformation	Hypoplasia of the pons, Hypoplasia of the brainstem, Enlarged tectum, Dysphagia	OMIM:618325
Primary Hepatic Neuroendocrine Carcinoma	Anorexia, Dyspnea, Weight loss, Intermittent jaundice, Bronchospasm, Facial telangiectasia	ORPHA:100085
Hypercalcemia, Infantile, 1	Failure to thrive, Weight loss	OMIM:143880
Focal Myositis	Weight loss	ORPHA:48918
Joubert Syndrome 8	Hyperventilation, Molar tooth sign on MRI, Obesity, Prolonged neonatal jaundice	OMIM:612291
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Neonatal death	OMIM:300219
Hirschsprung Disease	Failure to thrive in infancy, Weight loss	ORPHA:388
Osteootohepatoenteric Syndrome	Asthma, Weight loss, Prolonged neonatal jaundice, Failure to thrive, Anemia	OMIM:619377
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Polycythemia, Palate telangiectasia, Fingerpa...	OMIM:187300
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Abnormal pons morphology, EEG with focal spike waves, Abnormal brainstem morphology	ORPHA:370997
Generalized Pseudohypoaldosteronism Type 1	Cough, Wheezing, Failure to thrive in infancy, Weight loss	ORPHA:171876
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Pneumonia, Epistaxis, Cough, Dyspnea, Leukocytosis, Thrombocytopenia, Anemi...	ORPHA:340
Metachromatic Leukodystrophy, Juvenile Form	Decreased nerve conduction velocity, Emotional lability, Progressive gait ataxia, Abnormal social...	ORPHA:309263
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Splenomegaly, Neutrophilia, Failure to thrive in infancy	OMIM:612852
Autosomal Dominant Spastic Paraplegia Type 36	Abnormal brainstem MRI signal intensity	ORPHA:320365
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress, Attention deficit hyperactivity disorder	OMIM:619383
Joubert Syndrome 1	Central apnea, Hyperactivity, Episodic tachypnea, Brainstem dysplasia, Aggressive behavior, Hypop...	OMIM:213300
Hyperimmunoglobulinemia D With Periodic Fever	Urticaria, Erythema, Acrocyanosis, Purpura	ORPHA:343
Tarp Syndrome	Extramedullary hematopoiesis, Failure to thrive, Cyanosis, Apnea	ORPHA:2886
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Leukopenia, Neutropeni...	OMIM:617303
Thymic Neuroendocrine Tumor	Cough, Abnormal breath sound, Prominent veins on trunk, Weight loss	ORPHA:97289
Flynn-Aird Syndrome	EEG abnormality, Cachexia	ORPHA:2047
Farber Disease	Respiratory distress, Thrombocytopenia, Respiratory insufficiency, Hepatosplenomegaly, Failure to...	ORPHA:333
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Polycythemia Vera	Epistaxis, Pulmonary embolism, Splenomegaly, Respiratory insufficiency, Weight loss, Acute leukem...	ORPHA:729
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Severe failure to thrive, Self-injurious behavior, Cachexia, EEG abnormality	ORPHA:371364
Fucosidosis	Failure to thrive, Acrocyanosis, Vascular skin abnormality	ORPHA:349
Sarcoidosis, Susceptibility To, 1	Pancytopenia, Anorexia, Dyspnea, Splenomegaly, Bronchiectasis, Weight loss, Hypoxemia, Restrictiv...	OMIM:181000
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Jaundice, Neonatal death	OMIM:231680
Mitochondrial Complex I Deficiency, Nuclear Type 1	Cyanosis, Apnea, Splenomegaly, Respiratory insufficiency, Respiratory failure, Failure to thrive	OMIM:252010
Isolated Atp Synthase Deficiency	Respiratory distress	ORPHA:254913
Episodic Ataxia Type 1	Respiratory distress	ORPHA:37612
Non-Functioning Paraganglioma	Weight loss, Flushing	ORPHA:94080
Lymphatic Malformation 7	Respiratory distress, Pleural effusion, Chylothorax, Anemia	OMIM:617300
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,...	OMIM:600376
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Failure to thrive, Small for gestational age, Recurrent pneumonia	OMIM:607143
Absence Of The Pulmonary Artery	Orthopnea, Cyanosis, Dyspnea, Nonproductive cough, Recurrent pneumonia, Bronchiectasis, Hypocapni...	ORPHA:980
Diamond-Blackfan Anemia	Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, R...	ORPHA:124
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress	OMIM:617102
Mogs-Cdg	Respiratory distress, Hypoventilation, Absent brainstem auditory responses, Apnea, Hepatosplenome...	ORPHA:79330
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien...	ORPHA:308552
Whipple Disease	Cachexia, Anorexia, Splenomegaly, Respiratory insufficiency, Cough, Polydipsia, Anemia	ORPHA:3452
Neuroendocrine Tumor Of The Rectum	Bronchospasm, Weight loss, Facial telangiectasia, Anorexia	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Bronchospasm, Weight loss, Facial telangiectasia, Anorexia	ORPHA:100082
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Decreased nerve conduction velocity, Cachexia	ORPHA:1933
Inhalational Anthrax	Respiratory distress, Dyspnea	ORPHA:247257
Rodrigues Blindness	Ectodermal dysplasia, Nasal flaring	OMIM:268320
Mgat2-Cdg	Respiratory distress, Impaired lymphocyte transformation with phytohemagglutinin, Hypsarrhythmia,...	ORPHA:79329
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
Mcdonough Syndrome	Cachexia	ORPHA:2471
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Neutrophilia, Anemia, Weight loss	ORPHA:54251
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Respiratory failure	OMIM:617895
Meckel Syndrome 14	Pneumothorax, Cyanosis, Cardiorespiratory arrest	OMIM:619879
Metachromatic Leukodystrophy, Adult Form	Decreased nerve conduction velocity, Depression, Progressive gait ataxia, Difficulty walking, Emo...	ORPHA:309271
Acute Disseminated Encephalomyelitis	Interictal EEG abnormality, Respiratory failure requiring assisted ventilation, Aggressive behavi...	ORPHA:83597
Congenital Tracheal Stenosis	Respiratory distress, Cyanosis, Neonatal asphyxia, Wheezing, Dyspnea, Upper airway obstruction	ORPHA:141127
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Aspiration, Decreased nerve conduction velocity, Decreased amplitude of sen...	OMIM:618733
Nocardiosis	Respiratory distress, Pneumonia, Anorexia, Productive cough, Nonproductive cough, Dyspnea, Pneumo...	ORPHA:31204
Slc35A2-Cdg	Failure to thrive in infancy, Abnormal midbrain morphology, EEG with focal epileptiform discharge...	ORPHA:356961
Gm1 Gangliosidosis	Splenomegaly, Weight loss, Hepatosplenomegaly, Aspiration pneumonia, Dysphagia, Oral aversion, Fa...	ORPHA:354
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, Abnormal medulla oblongata morphology, Abnormal m...	ORPHA:206448
Odontochondrodysplasia 1	Respiratory distress	OMIM:184260
Bacterial Toxic-Shock Syndrome	Respiratory distress, Sinusitis, Pneumonia, Tachypnea, Increased circulating myelocyte count, Ecc...	ORPHA:36234
Medullary Thyroid Carcinoma	Weight loss, Dysphagia	ORPHA:1332
Igg4-Related Aortitis	Asthma, Hypereosinophilia, Weight loss	ORPHA:449400
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Pulmonary arterial hypertension, Failure to thrive, Cyanosis, Exertional dyspnea	ORPHA:99050
Acrodermatitis Enteropathica	Anorexia, Erythema, Weight loss, Failure to thrive, Generalized abnormality of skin	ORPHA:37
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Cachexia, Exertional dyspnea	ORPHA:42
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Recurrent pneumonia, Leukopenia, Neutropenia, Thrombocytopenia	OMIM:616271
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Abnormal brainstem MRI signal intensity, Intercostal muscle weakness, Respirator...	ORPHA:258
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Self-injurious behavior, Abnormal hemoglobin, Anemia	ORPHA:847
Congenital Fiber-Type Disproportion Myopathy	Hypercapnia, Respiratory insufficiency due to muscle weakness, Intercostal muscle weakness, Weigh...	ORPHA:2020
Agnathia-Otocephaly Complex	Respiratory distress, Tracheomalacia	OMIM:202650
Yao Syndrome	Asthma, Weight loss	OMIM:617321
Primary Intestinal Lymphangiectasia	Weight loss, Decreased proportion of CD3-positive T cells, Pleural effusion, Lymphopenia, Reduced...	ORPHA:90362
Cystic Echinococcosis	Eosinophilia, Asthma, Jaundice, Weight loss, Urticaria, Splenic cyst	ORPHA:400
48,Xxxy Syndrome	Irritability, Abnormal social behavior, Attention deficit hyperactivity disorder, Abnormal aggres...	ORPHA:96263
Kaposi Sarcoma	Abnormality of the spleen, Weight loss	ORPHA:33276
Histiocytoid Cardiomyopathy	Failure to thrive, Cyanosis, Tachypnea, Cough	ORPHA:137675
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Failure to thrive in infancy, Cachexia	OMIM:616801
Isolated Succinate-Coq Reductase Deficiency	Weight loss	ORPHA:3208
Nodular Non-Suppurative Panniculitis	Splenomegaly, Erythema, Weight loss	ORPHA:33577
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Anemia, Cachexia, Anorexia	OMIM:175500
Alveolar Echinococcosis	Eosinophilia, Dyspnea, Jaundice, Weight loss, Abnormal spleen morphology, Cough, Anemia	ORPHA:284
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Hepatosplenomegaly, Hemophagocytosis, Weight loss	ORPHA:86884
Secondary Short Bowel Syndrome	Failure to thrive, Polyphagia, Weight loss	ORPHA:95427
Pitt-Hopkins Syndrome	Aggressive behavior, Acrocyanosis, Self-injurious behavior, Failure to thrive, Abnormal pattern o...	ORPHA:2896
Erdheim-Chester Disease	Dyspnea, Weight loss, Pleural effusion, Cough, Polydipsia, Anemia	ORPHA:35687
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Pulmonary embolism, Megaloblastic anemia, Jaundice, Neutropenia, Pulmonary ...	ORPHA:79282
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Dyspnea, Dysphagia, Weight loss, Aspiration pneumonia, Cough, Failure to thrive	ORPHA:1018
Neuroblastoma, Susceptibility To, 1	Failure to thrive, Anemia, Weight loss	OMIM:256700
Adnp Syndrome	Respiratory distress, Aggressive behavior, Oral-pharyngeal dysphagia, Truncal obesity, Abnormal t...	ORPHA:404448
Familial Thrombocytosis	Acute myeloid leukemia, Thrombocytosis, Splenomegaly, Weight loss, Chronic myelogenous leukemia, ...	ORPHA:71493
Pachyonychia Congenita	Respiratory distress, Failure to thrive	ORPHA:2309
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Hepatosplenomegaly, Weight loss, Failure to thrive, Self-mutilation, Anemia	OMIM:619487
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Stillbirth	OMIM:151210
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Cyanosis, Asplenia, Aqueductal stenosis, Polysplenia, Failure to thrive	OMIM:306955
Ramos-Arroyo Syndrome	Severe failure to thrive, Self-mutilation, Respiratory distress, Decreased body weight	ORPHA:1051
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia	ORPHA:1389
Riddle Syndrome	Conjunctival telangiectasia, Pneumonia, Neonatal asphyxia, Erythema, Recurrent pneumonia, Weight ...	ORPHA:420741
Eisenmenger Syndrome	Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Hypochromic mi...	ORPHA:97214
Leigh Syndrome	Abnormal brainstem MRI signal intensity, Focal T2 hyperintense brainstem lesion, Neutropenia, Hyp...	ORPHA:506
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hypoplasia of the pons, Midline brainstem cleft	OMIM:617542
Diaphanospondylodysostosis	Respiratory distress, Tracheomalacia, Respiratory insufficiency	OMIM:608022
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Hyperactivity, Agitation, Weight loss	ORPHA:424
Acquired Hypertrichosis Lanuginosa	Weight loss	ORPHA:2221
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, Abnormal repetitive mannerisms, HbH hemoglobin, Hypochromic m...	OMIM:301040
Pelizaeus-Merzbacher Disease	Respiratory insufficiency, Failure to thrive in infancy, Cachexia	ORPHA:702
Hermansky-Pudlak Syndrome	Epistaxis, Anorexia, Dyspnea, Weight loss, Neutropenia, Bruising susceptibility	ORPHA:79430
Renpenning Syndrome	Cachexia	ORPHA:3242
Oculocerebral Hypopigmentation Syndrome, Preus Type	Abnormal brainstem morphology, Abnormality of neutrophils, Hypochromic anemia	ORPHA:2720
Pfeiffer Syndrome Type 2	Respiratory distress, Aqueductal stenosis, Tracheomalacia	ORPHA:93259
Osteosarcoma	Weight loss	ORPHA:668
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Macrocytic anemia, Eosinophilia, Anorexia, Weight loss, Failure to thrive	ORPHA:199299
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Respiratory failure, Chylothorax, Dysphagia	OMIM:620278
Achondroplasia	Respiratory distress, Brain stem compression, Upper airway obstruction	OMIM:100800
Radio-Renal Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion	ORPHA:3015
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Obesity, Head-banging, Abnormal temper tantrums, Skin-picking, Compulsive b...	ORPHA:177907
Cap Polyposis	Weight loss	ORPHA:160148
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Restlessness, Oral-pharyngeal dysphagia, Decreased body weight, Impaired or...	OMIM:615273
Liposarcoma	Weight loss	ORPHA:69078
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta...	OMIM:610655
Kallmann Syndrome-Heart Disease Syndrome	Cyanosis	ORPHA:2326
Kniest Dysplasia	Respiratory distress, Tracheomalacia	OMIM:156550
Combined Oxidative Phosphorylation Defect Type 7	Abnormal brainstem MRI signal intensity, Failure to thrive, Oral-pharyngeal dysphagia	ORPHA:254930
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory in...	ORPHA:365
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Anemia, Weight loss	ORPHA:324964
Dihydropyrimidine Dehydrogenase Deficiency	Inability to walk, Multifocal epileptiform discharges, Irritability, EEG abnormality, Abnormal so...	ORPHA:1675
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Weight loss, Iron deficiency anemia, Thrombocytosis, Failure to thrive	OMIM:212750
Klatskin Tumor	Jaundice, Weight loss	ORPHA:99978
Peritoneal Cystic Mesothelioma	Weight loss	ORPHA:168816
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Thrombocytopenia, Hepatosplenomegaly, Stridor, Leukopenia, Pulmonary arteri...	ORPHA:505248
Congenital Enterocyte Heparan Sulfate Deficiency	Weight loss	ORPHA:103910
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress	OMIM:271225
X-Linked Intellectual Disability, Cabezas Type	Hyperactivity, Cachexia, Aggressive behavior, Obesity, EEG abnormality	ORPHA:85293
Pfeiffer Syndrome Type 3	Respiratory distress, Aqueductal stenosis, Tracheomalacia	ORPHA:93260
Budd-Chiari Syndrome	Splenomegaly, Jaundice, Weight loss	ORPHA:131
Aortic Arch Interruption	Respiratory distress, Cyanosis, Tachypnea, Exertional dyspnea	ORPHA:2299
Arterial Tortuosity Syndrome	Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Dyspnea, Cardiores...	ORPHA:3342
Dermatomyositis	Abnormal eosinophil morphology, Telangiectasia of the skin, Erythema, Respiratory insufficiency, ...	ORPHA:221
Granulomatosis With Polyangiitis	Sinusitis, Respiratory insufficiency, Weight loss, Granulomatosis, Cough, Rhinorrhea	OMIM:608710
X-Linked Creatine Transporter Deficiency	Hyperactivity, Self-mutilation, Cachexia	ORPHA:52503
Carney-Stratakis Syndrome	Weight loss, Dysphagia	ORPHA:97286
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss	OMIM:188580
Lysosomal Acid Lipase Deficiency	Cachexia, Bone-marrow foam cells, Hypersplenism, Jaundice, Vacuolated lymphocytes, Weight loss, H...	ORPHA:275761
Listeriosis	Respiratory distress, Pneumonia, Abnormal brainstem MRI signal intensity, Jaundice, Hepatic granu...	ORPHA:533
Hereditary Amyloidosis With Primary Renal Involvement	Petechiae, Hepatosplenomegaly, Weight loss, Anemia, Purpura	ORPHA:85450
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Wild Type Attr Amyloidosis	Pleural effusion, Weight loss	ORPHA:330001
Kikuchi-Fujimoto Disease	Anorexia, Thrombocytopenia, Splenomegaly, Erythema, Weight loss, Leukopenia, Vasculitis in the sk...	ORPHA:50918
Gangliocytoma	Polyphagia, Abnormal brainstem morphology	ORPHA:251937
Gallbladder Neuroendocrine Tumor	Weight loss, Anorexia, Intermittent jaundice	ORPHA:100086
Arima Syndrome	Brainstem dysplasia, Dyspnea, Tachypnea, Hypoplasia of the brainstem, Molar tooth sign on MRI, Po...	OMIM:243910
Familial Cerebral Saccular Aneurysm	Abnormal brainstem morphology	ORPHA:231160
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Neonatal respiratory distress, Tracheomalacia	OMIM:217980
Vipoma	Anorexia, Respiratory insufficiency due to muscle weakness, Erythema, Weight loss, Intermittent j...	ORPHA:97282
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Weight loss	OMIM:613239
Giant Cell Arteritis	Cough, Epistaxis, Anorexia, Weight loss	ORPHA:397
Fg Syndrome Type 1	Broad-based gait, Abnormal social behavior, Compulsive behaviors, Attention deficit hyperactivity...	ORPHA:93932
Mitochondrial Dna-Associated Leigh Syndrome	Apnea, Dyspnea, Episodic respiratory distress, Dysphagia, Failure to thrive, Hyperventilation	ORPHA:255210
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure, Failure to ...	ORPHA:79404
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Pulmonary arterial hypertension	ORPHA:2519
Familial Pancreatic Carcinoma	Hepatosplenomegaly, Jaundice, Anorexia, Weight loss	ORPHA:1333
Heterotaxy, Visceral, 7, Autosomal	Cyanosis, Polysplenia	OMIM:616749
Postinfectious Vasculitis	Palpable purpura, Cutis marmorata, Pneumonia, Anorexia, Weight loss, Vasculitis in the skin, Acro...	ORPHA:48435
Ring Chromosome 10 Syndrome	Cachexia	ORPHA:1438
Chronic Graft Versus Host Disease	Pancytopenia, Poor wound healing, Anorexia, Cough, Dyspnea, Wheezing, Erythema, Pneumothorax, Bro...	ORPHA:99921
Malignant Atrophic Papulosis	Pleural effusion, Telangiectasia of the skin, Respiratory failure, Weight loss	ORPHA:679
Familial Gestational Hyperthyroidism	Hyperactivity, Agitation, Weight loss	ORPHA:99819
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Jaundice, Failure to thrive	OMIM:617156
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Respiratory distress	ORPHA:990
Brucellosis	Small for gestational age, Pneumonia, Anorexia, Hypersplenism, Thrombocytopenia, Leukocytosis, Sp...	ORPHA:1304
Chromosome 6Q24-Q25 Deletion Syndrome	Respiratory distress	OMIM:612863
Caroli Disease	Anorexia, Splenomegaly, Leukocytosis, Jaundice, Weight loss	ORPHA:53035
Tetrasomy 12P	Cachexia	ORPHA:884
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Failure to thrive, Apnea, Aggressive behavior	ORPHA:17
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Cachexia, Recurrent pneumonia, Acute leukemia, Res...	ORPHA:647
Choreoacanthocytosis	Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, Aggressive behavi...	ORPHA:2388
Cocaine Intoxication	Respiratory distress, Wheezing, Tachypnea, Pneumothorax, Agitation, Cough, Hyperventilation	ORPHA:90068
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Decreased sensitivity to hypoxemia, Acrocyanosis	OMIM:223900
Hereditary Late-Onset Parkinson Disease	Weight loss, Agitation, Impulsivity, Dysphagia	ORPHA:411602
Cardiac Valvular Dysplasia 2	Central cyanosis	OMIM:620067
Cryptococcosis	Respiratory distress, Lymphoid leukemia, Pneumonia, Dyspnea, Cough, Pleural effusion	ORPHA:1546
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Short Syndrome	Excessive wrinkled skin, Weight loss	ORPHA:3163
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress, Jaundice, Failure to thrive, Prolonged neonatal jaundice	OMIM:256810
Tuberous Sclerosis Complex	Respiratory distress, Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive beha...	ORPHA:805
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Splenome...	OMIM:614162
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Dyspnea	OMIM:115197
Nephroblastoma	Weight loss	ORPHA:654
Glucagonoma	Anorexia, Necrolytic migratory erythema, Acanthocytosis, Intermittent jaundice, Weight loss, Norm...	ORPHA:97280
Glossopharyngeal Neuralgia	Weight loss, Oral-pharyngeal dysphagia	ORPHA:221098
Acute Adrenal Insufficiency	Normocytic anemia, Salt craving, Anorexia, Weight loss, Failure to thrive	ORPHA:95409
Aredyld Syndrome	Splenomegaly, Cachexia	ORPHA:1133
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Repeated pneumothoraces, Respiratory insufficiency, Restrictive ventilatory...	ORPHA:536467
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Aggressive behavior, Asthma, Nasal flaring, Obesity, Self-injurious behavior, Attention deficit h...	ORPHA:466943
Hutchinson-Gilford Progeria Syndrome	Prominent superficial blood vessels, Cyanosis, Upper airway obstruction, Weight loss, Severe fail...	ORPHA:740
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Pneumothorax	OMIM:620306
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Cachexia	ORPHA:2774
Glucose-Galactose Malabsorption	Failure to thrive, Weight loss	ORPHA:35710
8P23.1 Microdeletion Syndrome	Obesity, Attention deficit hyperactivity disorder, Weight loss	ORPHA:251071
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress	OMIM:610536
Gerstmann-Straussler Disease	Weight loss, Aggressive behavior	OMIM:137440
Biotinidase Deficiency	Respiratory distress, Apnea, Hyperventilation	ORPHA:79241
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress, Restrictive ventilatory defect	OMIM:183900
Familial Glucocorticoid Deficiency	Failure to thrive, Anorexia, Weight loss	ORPHA:361
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress	ORPHA:438216
Structural Heart Defects And Renal Anomalies Syndrome	Cyanosis	OMIM:617478
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress	ORPHA:1555
Simple Cryoglobulinemia	Weight loss, Chronic lymphatic leukemia, Cold urticaria, Vascular skin abnormality, Purpura	ORPHA:91139
Osteogenesis Imperfecta, Type X	Respiratory distress, Recurrent pneumonia, Chronic lung disease	OMIM:613848
Amoebiasis Due To Free-Living Amoebae	Restlessness, Abnormal medulla oblongata morphology, Sinusitis, Pneumonia, Abnormal midbrain morp...	ORPHA:68
Colchicine Poisoning	Respiratory distress, Leukocytosis, Cardiorespiratory arrest	ORPHA:31824
Sporadic Pheochromocytoma/Secreting Paraganglioma	Weight loss, Flushing	ORPHA:276621
Beare-Stevenson Cutis Gyrata Syndrome	Palmoplantar cutis laxa, Respiratory distress	OMIM:123790
Alkuraya-Kucinskas Syndrome	Pleural effusion, Kinked brainstem, Hypoplasia of the brainstem	OMIM:617822
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Weight loss, Slender build, Cachexia, Dysphagia	OMIM:603041
Rheumatoid Arthritis	Weight loss	OMIM:180300
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Pneumonia, Thrombocytopenia, Splenomegaly, Weight loss, Urticaria...	OMIM:615846
Juvenile Amyotrophic Lateral Sclerosis	Cachexia, Dysphagia	ORPHA:300605
Alobar Holoprosencephaly	Central apnea, Abnormal brainstem morphology, Dysphagia, Aspiration pneumonia, Attention deficit ...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central apnea, Abnormal brainstem morphology, Dysphagia, Aspiration pneumonia, Attention deficit ...	ORPHA:93926
Lobar Holoprosencephaly	Central apnea, Abnormal brainstem morphology, Dysphagia, Aspiration pneumonia, Attention deficit ...	ORPHA:93924
Somatostatinoma	Anorexia, Hypochromic microcytic anemia, Weight loss, Intermittent jaundice, Subcutaneous lipoma	ORPHA:97283
Semilobar Holoprosencephaly	Central apnea, Abnormal brainstem morphology, Dysphagia, Aspiration pneumonia, Attention deficit ...	ORPHA:220386
Congenital Tufting Enteropathy	Failure to thrive, Weight loss	ORPHA:92050
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Ataxia, Aggressive behavior, Unsteady gait, Dysmetria, Nonprogressive cerebellar ataxia, Abnormal...	ORPHA:314647
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Anorexia, Or...	ORPHA:95455
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Small for gestational age, Abnormal brainstem morphology, Attention deficit hyperactivity disorde...	ORPHA:464311
Auriculocondylar Syndrome	Respiratory distress	ORPHA:137888
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Pulmonary arterial hypertension, Asplenia	ORPHA:210122
Mend Syndrome	Hyperactivity, Abnormal social behavior, Abnormal auditory evoked potentials, Aggressive behavior	ORPHA:401973
Meier-Gorlin Syndrome 1	Respiratory distress, Emphysema, Failure to thrive, Small for gestational age	OMIM:224690
Inflammatory Pseudotumor Of The Liver	Weight loss	ORPHA:90003
Granulomatosis With Polyangiitis	Sinusitis, Epistaxis, Chronic pulmonary obstruction, Respiratory insufficiency, Weight loss, Rest...	ORPHA:900
Hyperparathyroidism, Transient Neonatal	Respiratory distress, Splenic cyst	OMIM:618188
Fragile X-Associated Tremor/Ataxia Syndrome	Abnormal brainstem morphology, Compulsive behaviors, Dysphagia	ORPHA:93256
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Respiratory distress	OMIM:300968
Addison Disease	Normocytic anemia, Salt craving, Anorexia, Thiamine-responsive megaloblastic anemia, Weight loss,...	ORPHA:85138
Insulin-Resistance Syndrome Type B	Pneumonia, Abnormality of body weight, Increased body weight, Weight loss, Leukopenia, Decreased ...	ORPHA:2298
Symptomatic Form Of Hfe-Related Hemochromatosis	Splenomegaly, Weight loss	ORPHA:465508
Xfe Progeroid Syndrome	Failure to thrive, Cutaneous photosensitivity, Prematurely aged appearance, Cachexia	OMIM:610965
Rubinstein-Taybi Syndrome 1	Respiratory distress, Accessory spleen, Hyperactivity, Small for gestational age, Impulsivity, Tr...	OMIM:180849
Gitelman Syndrome	Respiratory distress, Salt craving, Iron deficiency anemia, Polydipsia, Failure to thrive	ORPHA:358
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Weight loss, Respiratory insufficiency, Dysphagia	OMIM:607459
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cutaneous photosensitivity, Cachexia	ORPHA:3217
Ear-Patella-Short Stature Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Failure to thrive	ORPHA:2554
Mucolipidosis Type Ii	Respiratory failure requiring assisted ventilation, Splenomegaly, Weight loss, Stridor, Restricti...	ORPHA:576
Multiple Myeloma	Splenomegaly, Pleural effusion, Anemia, Weight loss	ORPHA:29073
Pancreatoblastoma	Jaundice, Weight loss	ORPHA:677
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Pleural effusion	OMIM:620369
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Urticaria, Cutaneous photosensitivity, Prematurely aged appearance, Cachexia	ORPHA:220295
19Q13.11 Microdeletion Syndrome	Failure to thrive, Cachexia	ORPHA:217346
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Weight loss, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer cell c...	OMIM:301074
Primary Sclerosing Cholangitis	Abnormal eosinophil morphology, Spider hemangioma, Splenomegaly, Jaundice, Dilated superficial ab...	ORPHA:171
Ileal Neuroendocrine Tumor	Iron deficiency anemia, Dermatological manifestations of systemic disorders, Weight loss	ORPHA:100078
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Anorexia, Weight loss	ORPHA:49041
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Pancytopenia, Cachexia, Poor wound healing, Abnormality of the ...	ORPHA:2072
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Pneumonia, Anorexia, Splenomegaly, Bronchiectasis, Weight ...	OMIM:619381
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b...	ORPHA:353281
Duplication Of The Pituitary Gland	Abnormal midbrain morphology, Self-mutilation, Decreased body weight	ORPHA:314621
Primary Hyperoxaluria	Failure to thrive, Acrocyanosis, Cutis marmorata	ORPHA:416
Schinzel-Giedion Syndrome	Respiratory distress, Failure to thrive in infancy, Recurrent pneumonia, Hypsarrhythmia, Dysphagi...	ORPHA:798
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Rhinitis, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles	OMIM:305100
Microsporidiosis	Sinusitis, Pneumonia, Cachexia, Anorexia, Abnormality of the spleen, Weight loss, Rhinitis, Decre...	ORPHA:2552
Leptospirosis	Respiratory distress, Anorexia, Jaundice, Cough, Pleural effusion, Thrombocytopenia	ORPHA:509
Tick-Borne Encephalitis	Abnormal medulla oblongata morphology, Anorexia, Abnormal brainstem MRI signal intensity, Leukocy...	ORPHA:297
Coccidioidomycosis	Respiratory distress, Pneumonia, Eosinophilia, Abnormality of the spleen, Pleural empyema, Cough,...	ORPHA:228123
Campomelic Dysplasia	Respiratory distress, Neonatal respiratory distress, Apnea, Stridor, Tracheomalacia, Tracheobronc...	OMIM:114290
Tropical Pancreatitis	Jaundice, Weight loss	ORPHA:103918
Renal Nutcracker Syndrome	Anemia, Weight loss	ORPHA:71273
Niemann-Pick Disease Type C	Ataxia, Aggressive behavior, Dysphagia, Depression, Progressive gait ataxia, Gait disturbance, Lo...	ORPHA:646
Silver-Russell Syndrome	Failure to thrive in infancy, Obesity, Cachexia	ORPHA:813
Ppoma	Anorexia, Weight loss, Subcutaneous lipoma, Intermittent jaundice	ORPHA:97278
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Abnormal brainstem MRI signal intensity	ORPHA:83629
Hereditary Pheochromocytoma-Paraganglioma	Weight loss, Flushing	ORPHA:29072
Adrenocortical Carcinoma	Increased body weight, Weight loss	ORPHA:1501
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Malt Lymphoma	Anemia, Weight loss	ORPHA:52417
X-Linked Cerebral Adrenoleukodystrophy	Hyperactivity, Abnormal brainstem white matter morphology, Dysphagia	ORPHA:139396
Thyrotoxic Periodic Paralysis	Respiratory paralysis, Obesity, Abnormality of peripheral nerve conduction, Weight loss	ORPHA:79102
Lynch Syndrome	Attention deficit hyperactivity disorder, Weight loss	ORPHA:144
Solitary Fibrous Tumor	Weight loss	ORPHA:2126
Familial Dysautonomia	Acrocyanosis	ORPHA:1764
Arboleda-Tham Syndrome	Respiratory distress, Neonatal respiratory distress, Dysphagia, Abnormal repetitive mannerisms, R...	OMIM:616268
Sarcoidosis	Hemolytic anemia, Eosinophilia, Dyspnea, Increased T cell count, Pneumothorax, Thrombocytopenia, ...	ORPHA:797
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Dyspnea, Erythema, Respiratory failure, Failure to thrive	ORPHA:2556
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Respiratory failure requiring assisted ventilation, Cyanosis, Paroxysmal dy...	ORPHA:99125
Familial Colorectal Cancer Type X	Attention deficit hyperactivity disorder, Weight loss	ORPHA:440437
Cerebellar-Facial-Dental Syndrome	Hypoplasia of the pons, Hypoplasia of the brainstem, Failure to thrive, Abnormal midbrain morphology	ORPHA:444072
Osteoglophonic Dysplasia	Respiratory distress, Failure to thrive	OMIM:166250
Scimitar Syndrome	Respiratory distress, Pulmonary arterial hypertension, Pneumothorax, Cough	ORPHA:185
Aicardi-Goutières Syndrome	Cutis marmorata, Neonatal alloimmune thrombocytopenia, Hepatosplenomegaly, Chronic lymphatic leuk...	ORPHA:51
Pyomyositis	Leukocytosis, Weight loss	ORPHA:764
Truncus Arteriosus	Hypoplasia of the thymus, Cyanosis, Tachypnea	ORPHA:3384
Camurati-Engelmann Disease	Cachexia, Anorexia, Splenomegaly, Abnormal subcutaneous fat tissue distribution, Leukopenia, Slen...	ORPHA:1328
Hyperoxaluria, Primary, Type I	Acrocyanosis, Cutis marmorata	OMIM:259900
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Grfoma	Anorexia, Weight loss, Subcutaneous lipoma, Intermittent jaundice	ORPHA:97261
Koolen-De Vries Syndrome Due To A Point Mutation	EEG with focal epileptiform discharges, EEG abnormality, Inappropriate laughter, Attention defici...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	EEG with focal epileptiform discharges, EEG abnormality, Inappropriate laughter, Attention defici...	ORPHA:363958
Cushing Syndrome Due To Ectopic Acth Secretion	Plethora, Lymphopenia, Purpura, Dorsocervical fat pad, Poor wound healing, Anorexia, Leukocytosis...	ORPHA:99889
Pancreatic Triacylglycerol Lipase Deficiency	Iron deficiency anemia, Weight loss	ORPHA:309031
Juvenile Polyposis Of Infancy	Anemia, Cachexia, Refractory anemia, Subcutaneous lipoma	ORPHA:79076
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hepatosplenomegaly, Anemia, Weight loss	ORPHA:85408
Bannayan-Riley-Ruvalcaba Syndrome	Cachexia, Cutis marmorata, Subcutaneous hemorrhage, Telangiectasia	ORPHA:109
Schwartz-Jampel Syndrome	Apnea, Cachexia, Respiratory insufficiency, Attention deficit hyperactivity disorder, Decreased b...	ORPHA:800
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Neonatal respiratory distress, Erythema, Respiratory acidosis, Fragile skin	OMIM:614748
Generalized Arterial Calcification Of Infancy	Respiratory distress, Pulmonary arterial hypertension, Cyanosis, Failure to thrive in infancy	ORPHA:51608
8Q24.3 Microdeletion Syndrome	Respiratory distress, Hyperactivity, Small for gestational age, Tics, Dysphagia	ORPHA:508488
Seckel Syndrome	Prematurely aged appearance, Cachexia	ORPHA:808
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, B lymphocytopenia, Failure to thrive, Severe B lymphocytopenia	ORPHA:83617
Paget Disease Of Bone 2, Early-Onset	Brain stem compression	OMIM:602080
Rat-Bite Fever	Anemia, Weight loss	ORPHA:31205
Cystinosis, Nephropathic	Failure to thrive in infancy, Oral-pharyngeal dysphagia, Splenomegaly, Weight loss, Dysphagia, Po...	OMIM:219800
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Cachexia, Anorexia	ORPHA:1969
Behçet Disease	Anorexia, Pulmonary embolism, Splenomegaly, Weight loss, Pleural effusion	ORPHA:117
Isolated Arrhinia	Respiratory distress	ORPHA:1134
Cleidocranial Dysplasia 1	Respiratory distress, Neonatal respiratory distress	OMIM:119600
Parathyroid Carcinoma	Polydipsia, Weight loss, Dysphagia	ORPHA:143
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b...	ORPHA:353277
Reactive Arthritis	Respiratory insufficiency, Weight loss	ORPHA:29207
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Thrombocytopenia, Weight loss, Leukopenia, Anemia	ORPHA:84
Arnold-Chiari Malformation Type I	Brain stem compression, Dysphagia	ORPHA:268882
Cardiac Valvular Dysplasia 1	Cyanosis	OMIM:212093
Early Infantile Epileptic Encephalopathy	Hyperactivity, EEG with burst suppression, Hypsarrhythmia, Choreoathetosis, Self-injurious behavi...	ORPHA:1934
Doors Syndrome	Respiratory distress, EEG abnormality, Thrombocytosis, Aspiration pneumonia	ORPHA:79500
Zollinger-Ellison Syndrome	Jaundice, Erythema, Weight loss	ORPHA:913
Congenitally Corrected Transposition Of The Great Arteries	Failure to thrive, Cyanosis	ORPHA:216694
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Failure to thrive, Small for gestational age	ORPHA:2255
Stüve-Wiedemann Syndrome	Respiratory distress, Asthma, Apnea	ORPHA:3206
Classical Ehlers-Danlos Syndrome	Prematurely aged appearance, Poor wound healing, Ecchymosis, Acrocyanosis, Fragile skin, Bruising...	ORPHA:287
Coffin-Lowry Syndrome	Acrocyanosis, Cutis marmorata, Decreased body weight	OMIM:303600
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Anorexia, Weight loss, Normochromic anemia, Reduced hematocrit	ORPHA:91500
Hypermobile Ehlers-Danlos Syndrome	Decreased nerve conduction velocity, Acrocyanosis, Apnea	ORPHA:285
Infantile Spasms Syndrome	Hypsarrhythmia	ORPHA:3451
Osteogenesis Imperfecta	Neonatal respiratory distress, Small for gestational age, Brain stem compression, Dysphagia, Brui...	ORPHA:666
Plague	Respiratory distress, Splenomegaly, Acute infectious pneumonia, Anorexia	ORPHA:707
Cockayne Syndrome	Reduced subcutaneous adipose tissue, Cachexia, Decreased nerve conduction velocity, Splenomegaly,...	ORPHA:191
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Weight loss	ORPHA:99885
Trisomy 18	Cachexia	ORPHA:3380
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Hypoplasia of the brainstem, Kinked brainstem	OMIM:236670
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Recurrent pneumonia, Acute myelomonocytic leukemia, Abnormal pons morpholog...	ORPHA:99646
Meningioma	Progressive pulmonary function impairment, Brain stem compression, Abnormality on pulmonary funct...	ORPHA:2495
Marfan Syndrome	Spontaneous pneumothorax, Cachexia, Attention deficit hyperactivity disorder, Emphysema, Slender ...	ORPHA:558
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Weight loss, Failure to thrive, Hypocapnia	ORPHA:90794
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Splenomegaly	OMIM:617088
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Respiratory distress, Hypoplasia of the brainstem	ORPHA:480880
Tsh-Secreting Pituitary Adenoma	Weight loss	ORPHA:91347
Full Nf2-Related Schwannomatosis	Brain stem compression, Dysphagia	ORPHA:637
Igg4-Related Dacryoadenitis And Sialadenitis	Thrombocytopenia, Weight loss	ORPHA:79078
Igg4-Related Kidney Disease	Interstitial pneumonitis, Chronic sinusitis, Eosinophilia, Weight loss	ORPHA:449395
African Trypanosomiasis	Aggressive behavior, Splenomegaly, Jaundice, Hepatosplenomegaly, Weight loss	ORPHA:3385
Multiple Endocrine Neoplasia Type 1	Anorexia, Weight loss	ORPHA:652
Tropical Endomyocardial Fibrosis	Orthopnea, Eosinophilia, Cachexia, Dyspnea, Splenomegaly, Pulmonary venous hypertension	ORPHA:75565
Norrie Disease	Cachexia, Self-injurious behavior, EEG abnormality, Attention deficit hyperactivity disorder, Fai...	ORPHA:649
Williams Syndrome	Ataxia, Dysmetria, Depression, Gait disturbance, Gait imbalance, Attention deficit hyperactivity ...	ORPHA:904
Ulbright-Hodes Syndrome	Respiratory distress, Respiratory failure, Pneumothorax	ORPHA:3404
Proteus Syndrome	Thymus hyperplasia, Cachexia, Pulmonary embolism, Splenomegaly, Abnormal subcutaneous fat tissue ...	ORPHA:744
Primary Fanconi Renotubular Syndrome	Weight loss	ORPHA:3337
Alström Syndrome	Respiratory distress, Dorsocervical fat pad, Splenomegaly, Chronic pulmonary obstruction, Recurre...	ORPHA:64
Stickler Syndrome	Slender build, Cachexia	ORPHA:828
Malignant Migrating Focal Seizures Of Infancy	Failure to thrive, Multifocal epileptiform discharges, Hypsarrhythmia	ORPHA:293181
Pmm2-Cdg	Respiratory distress, Abnormal subcutaneous fat tissue distribution, Aspiration pneumonia, Impair...	ORPHA:79318
Generalized Epilepsy With Febrile Seizures-Plus	Obsessive-compulsive trait, Ataxia, EEG with spike-wave complexes	ORPHA:36387
Episodic Ataxia, Type 9	Episodic ataxia	OMIM:618924
Developmental And Epileptic Encephalopathy 11		OMIM:613721

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Scn2a

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Scn2a.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Deficiency of autism-related Scn2a gene in mice disrupts sleep patterns and circadian rhythms.	Neurobiology of disease (March 2022)	Scn2a^tm1aNarl	35301122
Generation and basic characterization of a gene-trap knockout mouse model of Scn2a with a substantial reduction of voltage-gated sodium channel Na_v 1.2 expression.	Genes, brain, and behavior (January 2021)	Scn2a^tm1aNarl	33369088

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Scn2a^tm1aNarl	KO first allele (reporter-tagged insertion with conditional potential)	Mice, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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