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:
Nav1.2,  A230052E19Rik,  Scn2a1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis, Normal interictal EEG OMIM:607745
Benign Familial Infantile Epilepsy
Apnea, Cyanosis, Normal interictal EEG, Interictal epileptiform activity ORPHA:306
Dravet Syndrome
EEG with focal epileptiform discharges, Interictal epileptiform activity, Multifocal epileptiform... ORPHA:33069
Infantile Spasms Syndrome
Hypsarrhythmia ORPHA:3451
Early Infantile Epileptic Encephalopathy
Uni- and bilateral multifocal epileptiform discharges, EEG with spike-wave complexes, Hypsarrhyth... ORPHA:1934
Generalized Epilepsy With Febrile Seizures-Plus
EEG with spike-wave complexes ORPHA:36387
Episodic Ataxia, Type 9
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 Similarity of
phenotypes
Matching phenotypes Source
Methemoglobinemia, Beta Type
Methemoglobinemia, Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia, Cyanosis OMIM:617973
Cyanosis, Transient Neonatal
Reticulocytosis, Jaundice, Anemia, Methemoglobinemia, Cyanosis OMIM:613977
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis, Normal interictal EEG OMIM:607745
Ravine Syndrome
Apnea, Decreased body weight, Abnormal auditory evoked potentials, Abnormal brainstem morphology,... ORPHA:99852
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis, Normal interictal EEG OMIM:601764
Cyanosis And Hepatic Disease
Cyanosis, Dyspnea OMIM:219400
Pulmonary Blastoma
Cough, Dyspnea, Weight loss, Recurrent pneumonia ORPHA:64741
Apnea, Central Sleep
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration OMIM:207720
Cryptogenic Organizing Pneumonia
Restrictive ventilatory defect, Wheezing, Dyspnea, Respiratory distress, Leukocytosis, Cough, Non... ORPHA:1302
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cough, Respiratory failure, Failure to thrive, Tachypnea, Cyanosis OMIM:263000
Cholesterol Pneumonia
Tachypnea, Cyanosis, Pneumonia, Cough OMIM:215030
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Laryngotracheal Angioma
Apnea, Wheezing, Respiratory distress, Cough, Intercostal retractions, Cyanosis, Stridor ORPHA:137935
Idiopathic Achalasia
Wheezing, Dysphagia, Cough, Weight loss, Recurrent aspiration pneumonia ORPHA:930
Laryngotracheoesophageal Cleft
Choking episodes, Dyspnea, Cough, Neonatal respiratory distress, Impaired oropharyngeal swallow r... ORPHA:2004
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Bronchopulmonary Dysplasia
Wheezing, Hyperoxemia, Respiratory distress, Abnormal respiratory system physiology, Dyspnea, Cou... ORPHA:70589
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Respiratory distress, Failure to thrive ORPHA:91130
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia, Cyanosis, Exertional dyspnea OMIM:250800
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Restrictive ventilatory defect, Respiratory distress, Dysphagia, Respiratory insufficiency, Respi... OMIM:614399
Acute Myelomonocytic Leukemia
Dyspnea, Leukocytosis, Weight loss, Thrombocytopenia, Anemia, Eosinophilia ORPHA:517
Pleural Mesothelioma
Dyspnea, Respiratory distress, Abnormal respiratory system physiology, Pleural effusion, Cough, D... ORPHA:50251
Recurrent Respiratory Papillomatosis
Choking episodes, Wheezing, Dyspnea, Respiratory distress, Dysphagia, Nonproductive cough, Respir... ORPHA:60032
Breath-Holding Spells
Iron deficiency anemia, Cyanosis OMIM:607578
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Central apnea, EEG abnormality, Abnormal erythrocyte morphology ORPHA:71277
Alpha-Thalassemia-Myelodysplastic Syndrome
Dyspnea, Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Bruising... ORPHA:231401
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Carcinoma Of Esophagus
Dysphagia, Cough, Weight loss, Obesity ORPHA:70482
Tuberculosis
Cough, Weight loss ORPHA:3389
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation, Obesity OMIM:257500
Perching Syndrome
Dysphagia, Respiratory distress OMIM:617055
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Hereditary Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Respiratory distress, Cough, Respiratory failure requiring assist... ORPHA:264675
Myasthenic Syndrome, Congenital, 6, Presynaptic
Sudden episodic apnea, Respiratory distress, Dysphagia, Respiratory insufficiency due to muscle w... OMIM:254210
Primary Familial Polycythemia
Dyspnea, Exertional dyspnea, Polycythemia, Cough, Epistaxis, Abnormal hemoglobin ORPHA:90042
Benign Familial Neonatal Epilepsy
Focal EEG discharges with secondary generalization, Circumoral cyanosis, Apnea, Increased theta f... ORPHA:1949
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Jaundice, Hypersplenism, Splenomegaly, Anemia, Abnormal hemo... ORPHA:846
Laryngeal Abductor Paralysis
Dysphagia, Cyanosis, Stridor OMIM:150260
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis OMIM:302000
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Dyspnea, Neonatal respiratory distress, Neonatal death, Respiratory failure, Failure to th... OMIM:265120
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Severe Acute Respiratory Syndrome
Dyspnea, Respiratory distress, Cough, Respiratory failure requiring assisted ventilation, Acute i... ORPHA:140896
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Failure to thrive OMIM:615595
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Benign Familial Infantile Epilepsy
Apnea, Cyanosis, Normal interictal EEG, Interictal epileptiform activity ORPHA:306
Slc35A1-Cdg
Respiratory distress, Neutropenia, Pneumonia, Thrombocytopenia, Subcutaneous hemorrhage, Giant pl... ORPHA:238459
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Hypsarrhythmia OMIM:616341
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Sudden episodic apnea, Respiratory distress, Dysphagia, Respiratory insufficiency due to muscle w... OMIM:605809
Gaucher Disease Type 2
Respiratory distress, Dysphagia, Cough, Splenomegaly, Abnormal pattern of respiration ORPHA:77260
Asbestos Intoxication
Restrictive ventilatory defect, Wheezing, Reduced forced vital capacity, Dyspnea, Late inspirator... ORPHA:2302
Surfactant Metabolism Dysfunction, Pulmonary, 2
Spontaneous pneumothorax, Reduced forced vital capacity, Respiratory distress, Bronchiectasis, In... OMIM:610913
Surfactant Metabolism Dysfunction, Pulmonary, 3
Apnea, Dyspnea, Respiratory distress, Exertional dyspnea, Cough, Hypoxemia, Neonatal respiratory ... OMIM:610921
Acquired Methemoglobinemia
Dyspnea, Respiratory distress, Hypoxemia, Methemoglobinemia, Cyanosis ORPHA:464453
Pneumocystosis
Dyspnea, Interstitial pneumonitis, Exertional dyspnea, Pleural effusion, Nonproductive cough, Res... ORPHA:723
Laryngeal Neuroendocrine Tumor
Oral-pharyngeal dysphagia, Weight loss, Exertional dyspnea ORPHA:100083
Congenital Pulmonary Lymphangiectasia
Chronic pulmonary obstruction, Respiratory distress, Pleural effusion, Cough, Splenomegaly, Pulmo... ORPHA:2414
Epilepsy, Pyridoxine-Dependent
Neonatal respiratory distress, Respiratory distress OMIM:266100
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Choanal Atresia
Choking episodes, Respiratory distress, Abnormal nasal mucus secretion, Tracheomalacia, Upper air... ORPHA:137914
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Combined Oxidative Phosphorylation Defect Type 23
Abnormal brainstem MRI signal intensity, Respiratory failure, Paroxysmal dyspnea, Failure to thri... ORPHA:444013
Mantle Cell Lymphoma
Weight loss, Splenomegaly ORPHA:52416
Autoimmune Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Dyspnea, Cough, Crackles, Weight loss, Decreased DLCO, Hypoxemia,... ORPHA:747
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Emphysema, Cough, Weight loss, Respiratory insufficiency, Asthma, Pulmonary arter... ORPHA:1164
Pulmonary Alveolar Proteinosis, Acquired
Restrictive ventilatory defect, Dyspnea, Cough, Pneumonia, Decreased DLCO, Hypoxemia, Cyanosis OMIM:610910
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Ventilator dependence with inability to wean, Dysphagia, Failure to thrive ... ORPHA:254875
Infant Acute Respiratory Distress Syndrome
Pneumonia, Atelectasis, Respiratory failure, Nasal flaring, Tachypnea, Hypoxemia, Cyanosis ORPHA:70587
Hereditary Methemoglobinemia
Methemoglobinemia, Cyanosis, Small for gestational age, Exertional dyspnea ORPHA:621
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory insufficiency due to muscle weakness, Respiratory distress, Decreased body weight OMIM:300580
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae, Failure to thrive, Abnormal brainstem MRI signal intensity ORPHA:51188
Malaria
Thrombocytopenia, Respiratory distress, Anemia ORPHA:673
Bardet-Biedl Syndrome 16
Respiratory distress, Obesity OMIM:615993
Diffuse Alveolar Hemorrhage
Restrictive ventilatory defect, Dyspnea, Leukocytosis, Cough, Respiratory failure requiring assis... ORPHA:90060
Acute Interstitial Pneumonia
Dyspnea, Bronchiectasis, Pleural effusion, Reduced hematocrit, Nonproductive cough, Crackles, Hyp... ORPHA:79126
Idiopathic Bronchiectasis
Wheezing, Dyspnea, Bronchiectasis, Emphysema, Decreased pulmonary function, Acute infectious pneu... ORPHA:60033
Chronic Hiccup
Abnormal eating behavior, Weight loss ORPHA:396
Pulmonary Non-Tuberculous Mycobacterial Infection
Dyspnea, Respiratory distress, Bronchiectasis, Chronic pulmonary obstruction, Pleural effusion, C... ORPHA:411703
Chronic Beryllium Disease
Abnormality on pulmonary function testing, Dyspnea, Abnormal proportion of CD4-positive T cells, ... ORPHA:133
Primary Pulmonary Hypoplasia
Abnormal breath sound, Apnea, Restrictive ventilatory defect, Hypoxemia, Neonatal respiratory dis... ORPHA:2257
Isaac Syndrome
EEG abnormality, Weight loss ORPHA:84142
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Lymphocytic interstitial pneumonia, Respiratory distress, Failure to thrive OMIM:245590
Anaplastic Thyroid Carcinoma
Dyspnea, Respiratory distress, Dysphagia, Cough, Weight loss, Upper airway obstruction, Stridor ORPHA:142
Cryptosporidiosis
Wheezing, Respiratory distress, Dysphagia, Decreased proportion of CD4-positive helper T cells, C... ORPHA:1549
Respiratory Distress Syndrome In Premature Infants
Dyspnea, Respiratory distress, Atelectasis, Neonatal respiratory distress, Tachypnea OMIM:267450
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Dyspnea, Respiratory distress ORPHA:1832
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia, Cyanosis OMIM:250790
Staphylococcal Necrotizing Pneumonia
Dyspnea, Respiratory distress, Leukocytosis, Pleural effusion, Cough, Nonproductive cough, Acute ... ORPHA:36238
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Hodgkin Lymphoma
Cough, Dyspnea, Weight loss, Splenomegaly ORPHA:98293
Galactose Epimerase Deficiency
Jaundice, Weight loss, Splenomegaly ORPHA:79238
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Abnormal brainstem MRI signal intensity, Respiratory insufficiency ORPHA:263410
Postsynaptic Congenital Myasthenic Syndromes
Restrictive ventilatory defect, Exertional dyspnea, Orthopnea, Respiratory failure, Cyanosis, Red... ORPHA:98913
Succinic Acidemia
Respiratory distress OMIM:600335
Leukodystrophy, Hypomyelinating, 17
Respiratory distress, Hypsarrhythmia OMIM:618006
Eosinophilic Fasciitis
Acrocyanosis, Abnormal eosinophil morphology, Weight loss, Eosinophilia ORPHA:3165
Lennox-Gastaut Syndrome
EEG with focal sharp slow waves, EEG abnormality, Abnormal brainstem morphology ORPHA:2382
Beta-Thalassemia
Microcytic anemia, Respiratory insufficiency, Thrombocytopenia, Anemia, Splenomegaly, Abnormal he... ORPHA:848
Sepsis In Premature Infants
Abnormal mucociliary clearance, Dyspnea, Purpura, Leukocytosis, Decreased pulmonary function, Neu... ORPHA:90051
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Failure to thrive ORPHA:26792
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Holocarboxylase Synthetase Deficiency
Respiratory distress, Weight loss, Thrombocytopenia, Desquamation of skin soon after birth, Tachy... ORPHA:79242
Refractory Anemia
Erythroid hypoplasia, Dyspnea, Neutropenia, Normocytic anemia, Thrombocytopenia, Normochromic ane... ORPHA:98826
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Failure to thrive OMIM:300934
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Pontocerebellar atrophy, EEG abnormality, Failure to thrive, Splenomegaly, ... OMIM:608799
Congenital Myasthenic Syndrome
Respiratory arrest, Choking episodes, Episodic respiratory distress, Central sleep apnea, Sudden ... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Respiratory arrest, Choking episodes, Episodic respiratory distress, Central sleep apnea, Sudden ... ORPHA:98914
Joubert Syndrome 7
Hypoplasia of the brainstem, Brainstem dysplasia, Episodic tachypnea, Central apnea, Tachypnea, M... OMIM:611560
Laryngomalacia
Congenital laryngeal stridor, Respiratory distress OMIM:150280
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Neutropenia, Thrombocytopenia, Splenomegaly, Failure to thrive, Anemia ORPHA:79312
Motor Neuropathy, Peripheral, With Dysautonomia
Cyanosis, Decreased nerve conduction velocity OMIM:252320
Meconium Aspiration Syndrome
Wheezing, Respiratory distress, Atelectasis, Neonatal asphyxia, Aspiration pneumonia, Pulmonary a... ORPHA:70588
Thyroid Lymphoma
Dyspnea, Respiratory distress, Dysphagia, Upper airway obstruction, Stridor ORPHA:97285
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea, Cyanosis, EEG abnormality OMIM:261680
Arnold-Chiari Malformation Type Ii
Apnea, Brain stem compression, Inspiratory stridor, Dysphagia, Pneumonia, Aqueductal stenosis, Ab... ORPHA:1136
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Neuromuscular dysphagia, Respiratory distress ORPHA:240085
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Pneumonia, Weight loss, Histiocytosis, Anemia, Splenomegaly, Abnorm... OMIM:209950
Familial Nasal Acilia
Dyspnea, Respiratory distress, Bronchiectasis, Atelectasis, Chronic rhinitis, Chronic sinusitis ORPHA:922
Buerger Disease
Acrocyanosis ORPHA:36258
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Weight loss OMIM:612075
Oculopharyngodistal Myopathy
Restrictive ventilatory defect, Respiratory insufficiency due to muscle weakness, Weight loss, Or... ORPHA:98897
Mu-Heavy Chain Disease
Abnormal B cell count, Weight loss, Anemia, Splenomegaly ORPHA:100024
Acute Lung Injury
Dyspnea, Respiratory distress, Pneumonia, Respiratory failure, Tachypnea, Hypoxemia ORPHA:178320
Avian Influenza
Dyspnea, Respiratory distress, Pleural effusion, Lymphopenia, Cough, Nonproductive cough, Pneumon... ORPHA:454836
Stt3B-Cdg
Thrombocytopenia, Respiratory distress, Failure to thrive ORPHA:370924
Spinocerebellar Ataxia Type 1
Abnormal nerve conduction velocity, Dysphagia, Respiratory failure, Abnormal brainstem morphology... ORPHA:98755
Pulmonary Arteriovenous Malformation
Iron deficiency anemia, Dyspnea, Cough, Hemothorax, Hypoxemia, Epistaxis, Pleural empyema, Pulmon... ORPHA:2038
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Failure to thrive OMIM:237310
Congenital Diaphragmatic Hernia
Hypoxemia, Respiratory distress ORPHA:2140
Multicentric Reticulohistiocytosis
Histiocytosis, Cachexia ORPHA:139436
Acute Promyelocytic Leukemia
Purpura, Leukocytosis, Exertional dyspnea, Neutropenia, Weight loss, Epistaxis, Pancytopenia, Thr... ORPHA:520
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Dysphagia, Apneic episodes in infancy, Episodic tachypnea, Abnormal brainstem morphology ORPHA:163961
Reticular Dysgenesis
Abnormality of neutrophils, Weight loss, Failure to thrive, Anemia, Leukopenia ORPHA:33355
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
EEG with focal sharp waves, Cyanotic episode, Failure to thrive in infancy, EEG with polyspike wa... ORPHA:284417
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae, Failure to thrive OMIM:602473
Gómez-López-Hernández Syndrome
Abnormal brainstem morphology ORPHA:1532
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Tracheomalacia, Failure to thrive, Increased mean corpuscular volume... OMIM:612561
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal brainstem morphology, Failure to thrive ORPHA:255182
Idiopathic Neonatal Atrial Flutter
Tachypnea, Large for gestational age, Respiratory distress ORPHA:45452
Pontocerebellar Hypoplasia Type 10
Abnormal brainstem morphology ORPHA:411493
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Restrictive ventilatory defect, Wheezing, Respiratory distress, Oxygen desaturation on exertion, ... OMIM:610978
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Pulmonary Capillary Hemangiomatosis
Dyspnea, Elevated pulmonary artery pressure, Exertional dyspnea, Pleural effusion, Hemothorax, Hy... ORPHA:199241
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress OMIM:604377
Tricuspid Atresia
Cyanosis ORPHA:1209
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Chiari Malformation Type Ii
Dysphagia, Inspiratory stridor, Cyanosis OMIM:207950
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Dyspnea, Decreased mean corpuscular hemoglobin concentration, Pers... ORPHA:231226
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Thrombocytopenia, Neutropenia, Anemia, Respiratory distress ORPHA:289916
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia, Respiratory distress, Failure to thrive OMIM:615597
Beta-Thalassemia Major
Hypochromic microcytic anemia, Dyspnea, Decreased mean corpuscular hemoglobin concentration, Pers... ORPHA:231214
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Ventilator dependence with inability to wean, Respiratory failure requiring assisted ventilation,... ORPHA:254864
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Myeloid leukemia, Dyspnea, Premature graying of hair, Cough, Crackles, Decreased DLCO, Pancytopen... OMIM:614742
Huntington Disease-Like 2
Weight loss ORPHA:98934
Progressive Supranuclear Palsy-Corticobasal Syndrome
Dysphagia, Respiratory distress ORPHA:240103
Myasthenia Gravis
Acrocyanosis, Pure red cell aplasia, Hemolytic anemia, Dyspnea, Dysphagia ORPHA:589
Joubert Syndrome 33
Apnea, Molar tooth sign on MRI OMIM:617767
Hereditary Central Diabetes Insipidus
Polydipsia, Weight loss ORPHA:30925
Rhabdoid Tumor
Thrombocytopenia, Weight loss, Anemia, Respiratory insufficiency ORPHA:69077
Shwachman-Diamond Syndrome 1
Respiratory distress, Persistence of hemoglobin F, Neutropenia, Pancytopenia, Thrombocytopenia, A... OMIM:260400
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Hypochromic anemia, Acute monocytic leukemia, Exertional dyspnea, Leukocytosis, We... ORPHA:514
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Dysphagia, Weight loss ORPHA:2198
Oromandibular Dystonia
Dysphagia, Respiratory distress, Weight loss ORPHA:93958
Eosinophilic Granulomatosis With Polyangiitis
Acrocyanosis, Purpura, Dysphagia, Cough, Weight loss, Respiratory insufficiency, Cutis marmorata,... ORPHA:183
Tularemia
Respiratory distress, Leukocytosis, Pleural effusion, Cough, Pneumonia, Thrombocytopenia, Anemia ORPHA:3392
Eosinophilic Gastroenteritis
Allergic rhinitis, Leukocytosis, Dysphagia, Weight loss, Asthma, Anemia, Eosinophilia ORPHA:2070
Coenzyme Q10 Deficiency, Primary, 8
Small for gestational age, Respiratory distress OMIM:616733
Laryngeal Web, Familial
Stridor, Respiratory distress OMIM:150360
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Bruising susceptibility, Weight loss, Thrombocytopenia, Abnormal neutrophil count, ... ORPHA:3226
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Respiratory distress, Reticulocytosis, Thrombocytopenia, Jaund... OMIM:274150
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Bruising susceptibility, HbH hemoglobin, Failure to thrive, Microcytic anemia ORPHA:98791
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Recurrent sinusitis, Neutropenia, Anemia, Increased mea... OMIM:618849
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Failure to thrive OMIM:618426
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Small for gestational age, Respiratory failur... ORPHA:555874
Marburg Hemorrhagic Fever
Cough, Weight loss, Thrombocytopenia, Jaundice, Leukopenia ORPHA:99826
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Beta-Thalassemia Intermedia
Persistence of hemoglobin F, Leukocytosis, Extramedullary hematopoiesis, Erythroid hyperplasia, J... ORPHA:231222
Leishmaniasis
Abnormal macrophage morphology, Weight loss, Pancytopenia, Thrombocytopenia, Splenomegaly, Rhinit... ORPHA:507
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Interictal EEG abnormality, Respiratory distress, EEG with focal epileptiform discharges, EEG wit... ORPHA:544503
Achondroplasia
Upper airway obstruction, Brain stem compression OMIM:100800
Congenital Laryngeal Web
Stridor, Respiratory distress ORPHA:2374
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Dravet Syndrome
EEG with focal epileptiform discharges, Interictal epileptiform activity, Multifocal epileptiform... ORPHA:33069
Primary Myelofibrosis
Ecchymosis, Thrombocytosis, Purpura, Leukocytosis, Extramedullary hematopoiesis, Pancytopenia, Th... ORPHA:824
Evans Syndrome
Dyspnea, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Epistaxis, Neutropenia in pres... ORPHA:1959
Gaucher Disease, Perinatal Lethal
Apnea, Respiratory distress, Purpura, Dysphagia, Decreased body weight, Thrombocytopenia, Desquam... OMIM:608013
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
Leigh Syndrome With Cardiomyopathy
Apnea, Respiratory distress, Dysphagia, Central hypoventilation, Abnormal brainstem morphology, R... ORPHA:70474
Complete Atrioventricular Septal Defect
Wheezing, Elevated pulmonary artery pressure, Crackles, Pulmonary venous hypertension, Intercosta... ORPHA:1329
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Failure to thrive ORPHA:261304
Primary Dystonia, Dyt4 Type
Dysphagia, Eunuchoid habitus, Respiratory distress ORPHA:98805
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Thymic Carcinoma
Cough, Dyspnea, Weight loss ORPHA:99868
Hypoglossia With Situs Inversus
Upper airway obstruction, Polysplenia, Asplenia, Respiratory distress OMIM:612776
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss, Splenomegaly ORPHA:86893
Brown-Vialetto-Van Laere Syndrome 1
Dyspnea, Respiratory distress, Dysphagia, Respiratory insufficiency, Stridor, Nocturnal hypoventi... OMIM:211530
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Mast Cell Sarcoma
Mastocytosis, Weight loss, Splenomegaly ORPHA:66661
20Q11.2 Microdeletion Syndrome
Brainstem dysplasia ORPHA:444051
Erythrokeratodermia Variabilis
Cutaneous photosensitivity, Weight loss, Erythema ORPHA:317
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Dysphagia... ORPHA:298
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Follicular Lymphoma
Pleural effusion, Weight loss, Splenomegaly ORPHA:545
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Neutropenia, Pancytopenia, Thrombocytopenia, Failure to thrive, Anemia OMIM:251110
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Leukocytosis, Flushing, Neutropenia, Weight loss, Pancy... ORPHA:98850
Riboflavin Transporter Deficiency
Dysphagia, Sleep apnea, Cachexia, Respiratory insufficiency ORPHA:97229
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Failure to thrive OMIM:614407
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Wilson Disease
Weight loss, Thrombocytopenia, Jaundice, Increased body weight, Anemia, Splenomegaly, Failure to ... ORPHA:905
Poems Syndrome
Acrocyanosis, Restrictive ventilatory defect, Thrombocytosis, Pleural effusion, Polycythemia, Wei... ORPHA:2905
Bronchial Neuroendocrine Tumor
Wheezing, Dyspnea, Bronchospasm, Nonproductive cough, Dermatological manifestations of systemic d... ORPHA:97287
Waardenburg Syndrome Type 3
Acrocyanosis, Tracheomalacia, Atelectasis ORPHA:896
Congenital Disorder Of Glycosylation, Type Iu
Neonatal respiratory distress, Respiratory distress OMIM:615042
Mulibrey Nanism
Cachexia ORPHA:2576
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Weight loss, Anemia, Respiratory insufficiency ORPHA:1842
Lissencephaly Syndrome, Norman-Roberts Type
Dysphagia, Hypoplastic spleen, Respiratory distress ORPHA:89844
Perry Syndrome
Central hypoventilation, Weight loss ORPHA:178509
Central Diabetes Insipidus
Failure to thrive, Polydipsia, Weight loss ORPHA:178029
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Neutropenia, Pancytopenia, Thrombocytopenia, Failure to thrive, Anemia OMIM:251100
Hsd10 Disease, Infantile Type
Dysphagia, Cyanosis ORPHA:391428
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Bronchiectasis, Ciliary dyskinesia, Immotile cilia, Sinusitis OMIM:606763
Double Outlet Right Ventricle
Tachypnea, Cyanosis, Failure to thrive ORPHA:3426
Toxic Epidermal Necrolysis
Restrictive ventilatory defect, Respiratory distress, Dysphagia, Cough, Neutropenia, Weight loss,... ORPHA:537
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Cough, Dyspnea, Respiratory distress ORPHA:86812
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Respiratory insufficiency ORPHA:157973
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Prolonged neonatal jaundice, Large for gestational age, Respiratory distress ORPHA:226313
Graves Disease, Susceptibility To, 1
Polyphagia, Weight loss OMIM:275000
Esophageal Atresia
Restrictive ventilatory defect, Episodic respiratory distress, Chronic pulmonary obstruction, Res... ORPHA:1199
Takayasu Arteritis
Pulmonary arterial hypertension, Weight loss, Anemia, Abnormal pattern of respiration ORPHA:3287
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Nipah Virus Disease
Cough, Respiratory distress ORPHA:99825
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Tetrasomy 5P
Pulmonary arterial hypertension, Cyanosis, Respiratory distress, Failure to thrive ORPHA:3309
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Exertional dyspnea, Respiratory insufficiency due to muscle weakness, Failu... OMIM:220110
Microlissencephaly-Micromelia Syndrome
EEG abnormality, Respiratory distress, Failure to thrive ORPHA:50810
Classic Hodgkin Lymphoma
Cough, Respiratory insufficiency, Weight loss, Splenomegaly ORPHA:391
Majeed Syndrome
Hypochromic microcytic anemia, Leukocytosis, Congenital hypoplastic anemia, Cough, Weight loss, C... ORPHA:77297
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Failure to thrive OMIM:618201
Joubert Syndrome 2
Thickened superior cerebellar peduncle, Hypoplasia of the brainstem, Brainstem dysplasia, Episodi... OMIM:608091
Atrial Septal Defect, Ostium Primum Type
Dyspnea, Exertional dyspnea, Decreased pulmonary function, Failure to thrive, Pulmonary arterial ... ORPHA:99106
Pseudomyxoma Peritonei
Weight loss, Respiratory insufficiency ORPHA:26790
Huntington Disease
Choking episodes, Decreased body mass index, Polyphagia, Weight loss, Oral-pharyngeal dysphagia ORPHA:399
Malignant Peritoneal Mesothelioma
Dyspnea, Weight loss ORPHA:168811
Moebius Syndrome
Dysphagia, Hypoplasia of the brainstem, Respiratory distress OMIM:157900
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Abnormal brainstem morphology, Telangiectasia, Telangiectasia of the skin ORPHA:79279
Congenital Fibrinogen Deficiency
Cyanosis, Subcutaneous hemorrhage, Bruising susceptibility, Splenic rupture ORPHA:335
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness ORPHA:1143
Aicardi-Goutieres Syndrome 1
Acrocyanosis, Purpura, Thrombocytopenia, Prolonged neonatal jaundice, Petechiae, Splenomegaly, He... OMIM:225750
Huntington Disease-Like 2
Weight loss OMIM:606438
Septopreoptic Holoprosencephaly
Dysphagia, Hypoplasia of the pons, Abnormal midbrain morphology ORPHA:280195
Fatal Familial Insomnia
Dysphagia, Apnea, Weight loss OMIM:600072
Bullous Pemphigoid
Urticaria, Weight loss, Erythema ORPHA:703
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Dyspnea, Respiratory failure, Respiratory distress ORPHA:2759
Acquired Central Diabetes Insipidus
Polydipsia, Weight loss ORPHA:95626
Japanese Encephalitis
Decreased motor nerve conduction velocity, Respiratory distress, Irregular respiration, Abnormal ... ORPHA:79139
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysphagia, Cyanosis, Failure to thrive in infancy ORPHA:488627
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Apnea, Hypoventilation, Respiratory distress, Aspiration pneumonia, EEG abnormality, Recurrent pn... ORPHA:314655
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Granulocytopenia, Respiratory distress, Macrocytic anemia OMIM:606164
Congenital Enterovirus Infection
Respiratory distress, Leukocytosis, Abnormal macrophage morphology, Pleural effusion, Neutropenia... ORPHA:292
Spinocerebellar Ataxia 48
Dysphagia, Cachexia OMIM:618093
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Urticaria, Chronic lymphatic leukemia, Flushing, Weight loss, Nor... ORPHA:98849
Moynahan Syndrome
Cachexia ORPHA:2574
Idiopathic Hypereosinophilic Syndrome
Vasculitis in the skin, Cough, Pulmonary embolism, Cutis marmorata, Anemia, Neutrophilia, Eosinop... ORPHA:3260
Acquired Purpura Fulminans
Thrombocytopenia, Macular purpura, Acrocyanosis ORPHA:49566
Drug Rash With Eosinophilia And Systemic Symptoms
Lymphocytosis, Dyspnea, Interstitial pneumonitis, Cough, Weight loss, Erythema, Angioedema, Eosin... ORPHA:139402
Classic Pantothenate Kinase-Associated Neurodegeneration
Dysphagia, Cough, Aspiration pneumonia, Weight loss ORPHA:216866
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Generalized abnormality of skin, Respiratory insufficiency, Failure to thri... ORPHA:367
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Severe failure to thrive, Cyanosis ORPHA:3304
X-Linked Agammaglobulinemia
Recurrent pneumonia, Neutropenia, Weight loss, Thrombocytopenia, Sinusitis, Failure to thrive, An... ORPHA:47
Multiple Carboxylase Deficiency
Tachypnea, Respiratory distress ORPHA:148
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
EEG with burst suppression, Respiratory distress, Failure to thrive ORPHA:329178
Myotonic Dystrophy 1
Dysphagia, Respiratory distress OMIM:160900
Lymphatic Malformation 7
Respiratory distress, Anemia OMIM:617300
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Respiratory insufficiency ORPHA:1145
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Sudden episodic apnea, Respiratory insufficiency ORPHA:159
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Overweight, Respiratory distress, Episodic tachypnea, Pneumonia, Jaundice, Small for gestational ... ORPHA:26793
Autosomal Dominant Epidermolytic Ichthyosis
Cutaneous photosensitivity, Weight loss ORPHA:312
Atrial Septal Defect, Ostium Secundum Type
Dyspnea, Exertional dyspnea, Increased pulmonary vascular resistance, Orthopnea, Pneumonia, Breat... ORPHA:99103
Goodpasture Syndrome
Restrictive ventilatory defect, Exertional dyspnea, Cough, Crackles, Weight loss, Increased DLCO,... OMIM:233450
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Failure to thrive ORPHA:927
Oculocerebrofacial Syndrome, Kaufman Type
Dyspnea, Respiratory failure, Respiratory distress, Failure to thrive ORPHA:2707
Synaptic Congenital Myasthenic Syndromes
Sleep apnea, Hypoventilation, Respiratory distress, Exertional dyspnea, Dysphagia, Respiratory in... ORPHA:98915
Amoebiasis Due To Entamoeba Histolytica
Dyspnea, Leukocytosis, Pleural effusion, Cough, Weight loss, Pleural empyema, Anemia ORPHA:67
Perry Syndrome
Hypoventilation, Central hypoventilation, Weight loss, Respiratory insufficiency, Respiratory arrest OMIM:168605
Systemic Capillary Leak Syndrome
Cardiorespiratory arrest, Leukocytosis, Pleural effusion, Cough, Weight loss, Rhinorrhea ORPHA:188
3-Hydroxy-3-Methylglutaric Aciduria
Apnea, Thrombocytosis, Hypsarrhythmia, Leukocytosis, Weight loss, Jaundice, EEG abnormality, Anem... ORPHA:20
Hereditary Angioedema Type 1
Dyspnea, Respiratory distress, Inspiratory stridor, Dysphagia, Urticaria, Dermatographic urticaria ORPHA:100050
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Tetanus
Dysphagia, Tachypnea, Respiratory distress ORPHA:3299
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Respiratory distress, Respiratory failure, Cachex... ORPHA:206436
Felty Syndrome
Recurrent pneumonia, Abnormal lymphocyte morphology, Neutropenia, Weight loss, Thrombocytopenia, ... ORPHA:47612
Polymicrogyria Due To Tubb2B Mutation
Abnormal brainstem morphology, Hypoplasia of the pons ORPHA:300573
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypoventilation, Cardiorespiratory arrest, Polyphagia, Abnormal midbrain morphology, Central hypo... ORPHA:293987
Familial Acute Necrotizing Encephalopathy
Abnormal brainstem MRI signal intensity, Abnormal brainstem morphology, Abnormal pattern of respi... ORPHA:88619
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Elongated superior cerebellar peduncle, Abnormal brainstem morphology ORPHA:370022
Kasabach-Merritt Syndrome
Microangiopathic hemolytic anemia, Respiratory distress, Purpura, Reticulocytosis, Hypopnea, Neut... ORPHA:2330
Hyperimmunoglobulinemia D With Periodic Fever
Acrocyanosis, Purpura, Urticaria, Erythema ORPHA:343
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Pneumonia ORPHA:1867
Diamond-Blackfan Anemia 10
Reticulocytopenia, Respiratory distress, Anemia, Macrocytic anemia OMIM:613309
Brain-Lung-Thyroid Syndrome
Abnormal drinking behavior, Respiratory distress, Abnormal eating behavior, Neonatal respiratory ... ORPHA:209905
Refractory Celiac Disease
Iron deficiency anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells, Normocytic an... ORPHA:398063
Al Amyloidosis
Dyspnea, Dysphagia, Nonproductive cough, Bruising susceptibility, Weight loss, Anemia, Howell-Jol... ORPHA:85443
Unilateral Polymicrogyria
Pseudobulbar paralysis, Apnea, Epistaxis, Giant somatosensory evoked potentials, Cyanosis ORPHA:268943
Fucosidosis
Acrocyanosis, Vascular skin abnormality, Failure to thrive ORPHA:349
Pfapa Syndrome
Weight loss, Splenomegaly ORPHA:42642
Stevens-Johnson Syndrome
Restrictive ventilatory defect, Dyspnea, Abnormality of neutrophils, Dysphagia, Cough, Weight los... ORPHA:36426
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Cachexia, Respiratory insufficiency ORPHA:93941
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Respiratory distress, Failure to thrive OMIM:619272
Juvenile Huntington Disease
Weight loss ORPHA:248111
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Iron deficiency anemia, Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T... ORPHA:37042
Christianson Syndrome
Dysphagia, Cachexia ORPHA:85278
Q Fever
Respiratory distress, Purpura, Pleural effusion, Cough, Pneumonia, Weight loss, Thrombocytopenia,... ORPHA:781
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Polysplenia, Asplenia, Failure to thrive, Cyanosis OMIM:306955
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Abnormal midbrain morphology, EEG abnormality, Ab... ORPHA:206448
Castleman Disease
Dyspnea, Cough, Weight loss, Thrombocytopenia, Jaundice, Anemia, Decreased mean corpuscular volume ORPHA:160
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Reduced subcutaneous adipose tissue, Cachexia, Weight loss, Premature graying of hair ORPHA:1979
Desmoplastic Small Round Cell Tumor
Weight loss, Cachexia, Anemia ORPHA:83469
Huntington Disease-Like 1
EEG abnormality, Weight loss ORPHA:157941
Hyperparathyroidism, Transient Neonatal
Respiratory distress OMIM:618188
Atrial Septal Defect, Coronary Sinus Type
Dyspnea, Exertional dyspnea, Increased pulmonary vascular resistance, Pneumonia, Pulmonary arteri... ORPHA:99104
Chitayat Syndrome
Respiratory distress, Tracheomalacia OMIM:617180
Benign Recurrent Intrahepatic Cholestasis
Jaundice, Weight loss ORPHA:65682
Lead Poisoning
Decreased pulmonary function, Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Small ... ORPHA:330015
Xfe Progeroid Syndrome
Prematurely aged appearance, Cachexia OMIM:610965
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Rift Valley Fever
Jaundice, Bruising susceptibility, Weight loss, Purpura ORPHA:319251
Odontochondrodysplasia
Respiratory distress ORPHA:166272
Beta-Ketothiolase Deficiency
Thrombocytosis, Oral aversion, Leukocytosis, Cough, Weight loss, Tachypnea ORPHA:134
Fructose-1,6-Bisphosphatase Deficiency
Dyspnea, Respiratory distress, Episodic tachypnea, Apneic episodes in infancy, Intermittent hyper... ORPHA:348
Multiple Acyl-Coa Dehydrogenase Deficiency
Jaundice, Neonatal death, Respiratory distress OMIM:231680
Polyarteritis Nodosa
Cutis marmorata, Weight loss, Erythema ORPHA:767
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Obesity OMIM:141750
Agnathia-Otocephaly Complex
Respiratory distress, Tracheomalacia OMIM:202650
Wolman Disease
Bone-marrow foam cells, Cachexia, Anemia, Splenomegaly ORPHA:75233
Juvenile Dermatomyositis
Restrictive ventilatory defect, Dyspnea, Dysphagia, Cough, Weight loss, Telangiectasia of the ski... ORPHA:93672
Rett Syndrome
Intermittent hyperventilation, EEG abnormality, Cachexia, Apnea OMIM:312750
Joubert Syndrome 8
Prolonged neonatal jaundice, Molar tooth sign on MRI, Hyperventilation, Obesity OMIM:612291
Mucopolysaccharidosis-Plus Syndrome
Recurrent pneumonia, Respiratory distress, Neutropenia, Thrombocytopenia, Splenomegaly, Anemia, L... OMIM:617303
Ethylene Glycol Poisoning
Tachypnea, Cyanosis, Episodic respiratory distress, Abnormal pattern of respiration ORPHA:31826
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Restrictive ventilatory defect, Dyspnea, Nail bed telangiectasia, Li... OMIM:187300
Congenital Muscular Dystrophy With Cerebellar Involvement
Hypoplasia of the brainstem, Olivopontocerebellar hypoplasia, Abnormal brainstem morphology, Hypo... ORPHA:370959
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
EEG with focal spike waves, Abnormal pons morphology, Abnormal brainstem morphology ORPHA:370997
Mercury Poisoning
Dyspnea, Respiratory failure, Respiratory distress, Interstitial pneumonitis ORPHA:330021
Focal Myositis
Weight loss ORPHA:48918
Farber Disease
Respiratory distress, Respiratory insufficiency, Atelectasis, Thrombocytopenia, Failure to thrive... ORPHA:333
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Neutrophilia, Respiratory distress, Failure to thrive in infancy, Splenomegaly OMIM:612852
Spinocerebellar Ataxia, X-Linked 3
Episodic hypoventilation, Dysphagia, Episodic respiratory distress OMIM:301790
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Respiratory distress OMIM:617895
Hirschsprung Disease
Weight loss, Failure to thrive in infancy ORPHA:388
Polycythemia Vera
Epistaxis, Respiratory insufficiency, Weight loss, Pulmonary embolism, Splenomegaly, Bruising sus... ORPHA:729
Oculopharyngodistal Myopathy 1
Restrictive ventilatory defect, Hypercapnia, Dysphagia, Respiratory insufficiency due to muscle w... OMIM:164310
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Generalized Pseudohypoaldosteronism Type 1
Cough, Wheezing, Weight loss, Failure to thrive in infancy ORPHA:171876
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Pure red cell aplasia, Thrombo... ORPHA:124
Nephropathy With Pretibial Epidermolysis Bullosa And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss OMIM:143880
Pemphigus Vulgaris
Urticaria, Weight loss ORPHA:704
Tarp Syndrome
Apnea, Extramedullary hematopoiesis, Cyanosis, Failure to thrive ORPHA:2886
Thymic Neuroendocrine Tumor
Abnormal breath sound, Cough, Prominent veins on trunk, Weight loss ORPHA:97289
Congenital Disorder Of Deglycosylation
Central sleep apnea, Decreased sensory nerve conduction velocity, Respiratory distress, Decreased... OMIM:615273
Alternating Hemiplegia Of Childhood
Apnea, Respiratory distress, Dysphagia, Flushing, Oral-pharyngeal dysphagia, Failure to thrive, A... ORPHA:2131
Rodrigues Blindness
Ectodermal dysplasia, Nasal flaring OMIM:268320
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... ORPHA:308552
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Weight loss, Anemia ORPHA:54251
Flynn-Aird Syndrome
EEG abnormality, Cachexia ORPHA:2047
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Dyspnea, Nail bed telangiectasia, Lip telangiectasia, Fingerpad tela... OMIM:600376
Mcdonough Syndrome
Cachexia ORPHA:2471
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormal brainstem MRI signal intensity, Hypoventilation, Dysphagia, Pontocerebellar atrophy, Dec... ORPHA:258
Congenital Tracheal Stenosis
Wheezing, Dyspnea, Respiratory distress, Upper airway obstruction, Neonatal asphyxia, Cyanosis ORPHA:141127
Atrioventricular Septal Defect 3
Pulmonary arterial hypertension, Cyanosis OMIM:600309
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Non-Functioning Paraganglioma
Flushing, Weight loss ORPHA:94080
Inhalational Anthrax
Dyspnea, Respiratory distress ORPHA:247257
Odontochondrodysplasia 1
Respiratory distress OMIM:184260
Bacterial Toxic-Shock Syndrome
Respiratory distress, Pneumonia, Increased circulating metamyelocyte count, Thrombocytopenia, Inc... ORPHA:36234
Medullary Thyroid Carcinoma
Dysphagia, Weight loss ORPHA:1332
Joubert Syndrome 1
Hypoplasia of the brainstem, Brainstem dysplasia, Episodic tachypnea, Central apnea, Elongated su... OMIM:213300
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Decreased nerve conduction velocity ORPHA:1933
Peripheral Primitive Neuroectodermal Tumor
Abnormal superior cerebellar peduncle morphology, Jaundice, Weight loss, Anemia ORPHA:370348
Polymyositis
Cough, Respiratory insufficiency, Weight loss, Exertional dyspnea ORPHA:732
Primary Hepatic Neuroendocrine Carcinoma
Dyspnea, Bronchospasm, Weight loss, Intermittent jaundice, Facial telangiectasia ORPHA:100085
Neuromuscular Oculoauditory Syndrome
Decreased amplitude of sensory action potentials, Aspiration, Respiratory distress, Decreased ner... OMIM:618733
Kaposi Sarcoma
Abnormality of the spleen, Weight loss ORPHA:33276
Glycogen Storage Disease Due To Acid Maltase Deficiency
Sleep apnea, Respiratory distress, Exertional dyspnea, Dysphagia, Orthopnea, Respiratory insuffic... ORPHA:365
Slc35A2-Cdg
EEG with focal epileptiform discharges, Abnormal midbrain morphology, Hypsarrhythmia, Failure to ... ORPHA:356961
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of neutrophils, Hypochromic anemia, Abnormal brainstem morphology ORPHA:2720
Cronkhite-Canada Syndrome
Cachexia, Anemia, Splenomegaly ORPHA:2930
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Respiratory failure, Respiratory distress, Respiratory insufficiency OMIM:608836
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Campomelic Dysplasia
Apnea, Tracheobronchomalacia, Respiratory distress, Failure to thrive OMIM:114290
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Megaloblastic anemia, Neutropenia, Thrombocytopenia, Jaundice, Pulmonary em... ORPHA:79282
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Obstructive sleep apnea, EEG abnormality, Cachexia ORPHA:371364
Whipple Disease
Cough, Respiratory insufficiency, Cachexia, Anemia, Splenomegaly, Polydipsia ORPHA:3452
Yao Syndrome
Asthma, Weight loss OMIM:617321
Dermatomyositis
Acrocyanosis, Cutaneous photosensitivity, Weight loss, Telangiectasia of the skin, Erythema, Resp... ORPHA:221
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Hemophagocytosis, Hepatosplenomegaly, Weight loss ORPHA:86884
Igg4-Related Aortitis
Hypereosinophilia, Asthma, Weight loss ORPHA:449400
Cystic Echinococcosis
Weight loss, Jaundice, Splenic cyst, Asthma, Urticaria, Eosinophilia ORPHA:400
Gm1 Gangliosidosis
Oral aversion, Dysphagia, Weight loss, Aspiration pneumonia, Failure to thrive, Splenomegaly, Hep... ORPHA:354
Diaphanospondylodysostosis
Tracheomalacia, Respiratory distress, Respiratory insufficiency OMIM:608022
Nodular Non-Suppurative Panniculitis
Erythema, Weight loss, Splenomegaly ORPHA:33577
Alveolar Echinococcosis
Dyspnea, Cough, Abnormal spleen morphology, Weight loss, Jaundice, Anemia, Eosinophilia ORPHA:284
Rare Circulatory System Disease
Cyanosis ORPHA:98028
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Weight loss, Anemia OMIM:256700
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Midline brainstem cleft, Hypoplasia of the pons OMIM:617542
Kniest Dysplasia
Respiratory distress, Tracheomalacia OMIM:156550
Congenital Fiber-Type Disproportion Myopathy
Hypercapnia, Dysphagia, Weight loss, Respiratory insufficiency due to muscle weakness, Intercosta... ORPHA:2020
Histiocytoid Cardiomyopathy
Tachypnea, Cyanosis, Failure to thrive, Cough ORPHA:137675
Klatskin Tumor
Jaundice, Weight loss ORPHA:99978
Leigh Syndrome
Abnormal brainstem MRI signal intensity, Hypsarrhythmia, Dysphagia, Abnormal pattern of respirati... ORPHA:506
Neuropathy, Congenital Hypomyelinating, 3
Cachexia, Respiratory insufficiency OMIM:618186
Osteosarcoma
Weight loss ORPHA:668
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia, Exertional dyspnea ORPHA:42
Pitt-Hopkins Syndrome
Acrocyanosis, Sleep apnea, Failure to thrive, Abnormal pattern of respiration, Hyperventilation ORPHA:2896
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Anemia ORPHA:847
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Dyspnea, Dysphagia, Cough, Weight loss, Aspiration pneumonia, Failure to thrive ORPHA:1018
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Stridor, Respiratory distress, Thrombocytopenia, Anemia, Leukopenia, Pulmonary arterial hypertens... ORPHA:505248
Hemangiomatosis, Cutaneous, With Associated Features
Acrocyanosis OMIM:234800
Secondary Short Bowel Syndrome
Failure to thrive, Polyphagia, Weight loss ORPHA:95427
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Pulmonary arterial hypertension, Cyanosis, Failure to thrive, Exertional dyspnea ORPHA:99050
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Dyspnea, Lip telangiectasia, Spontaneous, recurrent epistaxis, Nasal... OMIM:610655
Joubert Syndrome 17
Molar tooth sign on MRI, Hyperventilation OMIM:614615
Erdheim-Chester Disease
Dyspnea, Pleural effusion, Cough, Weight loss, Anemia, Polydipsia ORPHA:35687
Pelizaeus-Merzbacher Disease
Cachexia, Failure to thrive in infancy, Respiratory insufficiency ORPHA:702
Riddle Syndrome
Conjunctival telangiectasia, Recurrent pneumonia, Restrictive ventilatory defect, Recurrent sinus... ORPHA:420741
Liposarcoma
Weight loss ORPHA:69078
Acute Disseminated Encephalomyelitis
Abnormal brainstem MRI signal intensity, Interictal EEG abnormality, Respiratory failure requirin... ORPHA:83597
Combined Oxidative Phosphorylation Defect Type 7
Abnormal brainstem MRI signal intensity, Failure to thrive, Oral-pharyngeal dysphagia ORPHA:254930
Pfeiffer Syndrome Type 2
Tracheomalacia, Respiratory distress, Aqueductal stenosis ORPHA:93259
Radio-Renal Syndrome
Dyspnea, Respiratory distress, Pleural effusion, Respiratory failure, Chylothorax ORPHA:3015
Primary Intestinal Lymphangiectasia
Iron deficiency anemia, Pleural effusion, Lymphopenia, Weight loss, Failure to thrive ORPHA:90362
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Familial Thrombocytosis
Thrombocytosis, Chronic myelogenous leukemia, Weight loss, Acute myeloid leukemia, Splenomegaly, ... ORPHA:71493
Sarcoidosis, Susceptibility To, 1
Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pleural effusion, Cough, Emphysema, Weig... OMIM:181000
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis OMIM:261740
Nocardiosis
Dyspnea, Respiratory distress, Pleural effusion, Emphysema, Nonproductive cough, Pneumonia, Weigh... ORPHA:31204
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis ORPHA:2326
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:301040
Renpenning Syndrome
Cachexia ORPHA:3242
Ménétrier Disease
Hypochromic microcytic anemia, Weight loss ORPHA:2494
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Weight loss, Anemia ORPHA:324964
Gangliocytoma
Abnormal brainstem morphology, Polyphagia ORPHA:251937
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Cachexia, Failure to thrive in infancy OMIM:616801
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Acrocyanosis, Decreased sensitivity to hypoxemia OMIM:223900
Neuroendocrine Tumor Of The Colon
Facial telangiectasia, Bronchospasm, Weight loss ORPHA:100080
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:603041
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Pachyonychia Congenita
Respiratory distress, Failure to thrive ORPHA:2309
Pfeiffer Syndrome Type 3
Tracheomalacia, Respiratory distress, Aqueductal stenosis ORPHA:93260
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Neonatal respiratory distress, Respiratory distress, Tracheomalacia OMIM:217980
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Episodic respiratory distress, Dyspnea, Dysphagia, Failure to thrive, Hyperventilation ORPHA:255210
Cap Polyposis
Weight loss ORPHA:160148
Neuroendocrine Tumor Of Stomach
Iron deficiency anemia, Bronchospasm, Dermatological manifestations of systemic disorders, Weight... ORPHA:100075
47,Xyy Syndrome
Abnormal brainstem morphology, Asthma ORPHA:8
Eisenmenger Syndrome
Iron deficiency anemia, Hypochromic microcytic anemia, Wheezing, Respiratory distress, Exertional... ORPHA:97214
Carney-Stratakis Syndrome
Dysphagia, Weight loss ORPHA:97286
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss OMIM:613239
Arterial Tortuosity Syndrome
Prematurely aged appearance, Dyspnea, Cardiorespiratory arrest, Respiratory distress, Telangiecta... ORPHA:3342
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Pulmonary arterial hypertension, Respiratory distress ORPHA:2519
Granulomatosis With Polyangiitis
Cough, Respiratory insufficiency, Weight loss, Rhinorrhea, Sinusitis, Granulomatosis OMIM:608710
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss OMIM:188580
Familial Cerebral Saccular Aneurysm
Abnormal brainstem morphology ORPHA:231160
Listeriosis
Abnormal brainstem MRI signal intensity, Respiratory distress, Splenic abscess, Pneumonia, Jaundi... ORPHA:533
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress OMIM:619383
Isolated Succinate-Coq Reductase Deficiency
Weight loss ORPHA:3208
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress ORPHA:990
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Budd-Chiari Syndrome
Jaundice, Weight loss, Splenomegaly ORPHA:131
Ramos-Arroyo Syndrome
Severe failure to thrive, Respiratory distress, Decreased body weight ORPHA:1051
Wild Type Attr Amyloidosis
Pleural effusion, Weight loss ORPHA:330001
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Thrombocytosis, Weight loss, Failure to thrive, Macrocytic anemia OMIM:212750
Severe Generalized Junctional Epidermolysis Bullosa
Dyspnea, Respiratory distress, Pneumonia, Fragile skin, Respiratory failure, Failure to thrive, A... ORPHA:79404
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Vacuolated lymphocytes, Pulmonary arterial hypertension, Weight loss, Jau... ORPHA:275761
Ring Chromosome 10 Syndrome
Cachexia ORPHA:1438
Auriculocondylar Syndrome
Obstructive sleep apnea, Respiratory distress, Snoring ORPHA:137888
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress OMIM:271225
Cryptococcosis
Dyspnea, Respiratory distress, Pleural effusion, Cough, Pneumonia, Lymphoid leukemia ORPHA:1546
Malignant Atrophic Papulosis
Pleural effusion, Respiratory failure, Weight loss, Telangiectasia of the skin ORPHA:679
Beare-Stevenson Cutis Gyrata Syndrome
Palmoplantar cutis laxa, Respiratory distress OMIM:123790
Neuroendocrine Tumor Of The Rectum
Facial telangiectasia, Bronchospasm, Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Facial telangiectasia, Bronchospasm, Weight loss ORPHA:100082
Hermansky-Pudlak Syndrome
Dyspnea, Neutropenia, Weight loss, Epistaxis, Bruising susceptibility ORPHA:79430
Short Syndrome
Excessive wrinkled skin, Weight loss ORPHA:3163
Tetrasomy 12P
Cachexia ORPHA:884
Spondyloepiphyseal Dysplasia Congenita
Restrictive ventilatory defect, Respiratory distress OMIM:183900
Adnp Syndrome