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

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
Interictal epileptiform activity, Apnea, Cyanosis, Normal interictal EEG ORPHA:306
Dravet Syndrome
EEG with generalized epileptiform discharges, Obsessive-compulsive trait, Cyanotic episode, Inter... ORPHA:33069
Benign Familial Neonatal-Infantile Seizures
Apnea, Continuous spike and waves during slow sleep, EEG with focal spikes ORPHA:140927
Early Infantile Epileptic Encephalopathy
Self-injurious behavior, Episodic ataxia, EEG with burst suppression, Uni- and bilateral multifoc... ORPHA:1934
Infantile Spasms Syndrome
Hypsarrhythmia ORPHA:3451
Malignant Migrating Focal Seizures Of Infancy
Multifocal epileptiform discharges, Hypsarrhythmia, Failure to thrive ORPHA:293181
Generalized Epilepsy With Febrile Seizures-Plus
EEG with spike-wave complexes, Obsessive-compulsive trait, Ataxia 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 Similarity of
phenotypes
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Autism, Susceptibility To, 20
Compulsive behaviors, Attention deficit hyperactivity disorder, Reduced social reciprocity OMIM:618830
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
EEG abnormality, Abnormal social behavior, Hyperactivity ORPHA:436151
Autism
Impaired ability to form peer relationships, Restrictive behavior, Inflexible adherence to routin... OMIM:209850
Autism, Susceptibility To, 8
Impaired ability to form peer relationships, Restrictive behavior, Inflexible adherence to routin... OMIM:607373
Chromosome 15Q11-Q13 Duplication Syndrome
Impaired ability to form peer relationships, Restrictive behavior, Inflexible adherence to routin... OMIM:608636
Methemoglobinemia, Beta Type
Methemoglobinemia, Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia, Cyanosis OMIM:617973
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships, Restrictive behavior, Motor stereotypy, Inflexible a... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships, Restrictive behavior, Motor stereotypy, Inflexible a... OMIM:608631
Intellectual Developmental Disorder, Autosomal Recessive 66
Aggressive behavior, Attention deficit hyperactivity disorder, Gait ataxia, Excessive shyness OMIM:618221
Ravine Syndrome
Abnormal auditory evoked potentials, Failure to thrive, Abnormal brainstem morphology, Apnea, Dec... ORPHA:99852
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis, Normal interictal EEG OMIM:607745
Cyanosis, Transient Neonatal
Reticulocytosis, Cyanosis, Methemoglobinemia, Anemia, Jaundice OMIM:613977
Perching Syndrome
Respiratory distress, Dysphagia, Cyanosis OMIM:617055
Pyknoachondrogenesis
Stillbirth OMIM:265880
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis, Normal interictal EEG OMIM:601764
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Motor stereotypy, Reduced social reciprocity OMIM:606053
Intellectual Developmental Disorder, Autosomal Recessive 64
Aggressive behavior, Reduced social reciprocity OMIM:618103
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Pulmonary Blastoma
Dyspnea, Weight loss ORPHA:64741
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis, Failure to thrive ORPHA:91130
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Chronic Pneumonitis Of Infancy
Intercostal retractions, Failure to thrive, Respiratory distress, Cyanosis, Tachypnea, Hyperventi... ORPHA:91359
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Weight loss ORPHA:141152
Cryptogenic Organizing Pneumonia
Respiratory distress, Anorexia, Leukocytosis, Cyanosis, Weight loss, Neutrophilia, Dyspnea, Hypox... ORPHA:1302
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Motor stereotypy, Hypsarrhythmia OMIM:616341
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Anemia, Weight loss, Thrombocytopenia, Dyspnea ORPHA:517
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Tachypnea, Cyanosis, Failure to thrive OMIM:263000
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
High Altitude Pulmonary Edema
Leukocytosis, Cyanosis, Tachypnea, Orthopnea, Anorexia, Dyspnea, Hypoxemia ORPHA:330012
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Inability to walk, Reduced social reciprocity, EEG abnormality, Motor st... OMIM:617820
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Abnormal erythrocyte morphology, Central apnea, EEG abnormality ORPHA:71277
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Bruising susceptibility, Microcytic anemia, Splenomegaly, Neutrop... ORPHA:231401
Mantle Cell Lymphoma
Weight loss, Splenomegaly, Anorexia ORPHA:52416
Breath-Holding Spells
Iron deficiency anemia, Cyanosis OMIM:607578
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Obesity-Hypoventilation Syndrome
Obesity, Cyanosis, Hypoventilation OMIM:257500
Laryngotracheal Angioma
Respiratory distress, Apnea, Intercostal retractions, Cyanosis ORPHA:137935
Hereditary Methemoglobinemia
Methemoglobinemia, Small for gestational age, Exertional dyspnea, Cyanosis ORPHA:621
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
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, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Laryngeal Neuroendocrine Tumor
Weight loss, Exertional dyspnea, Oral-pharyngeal dysphagia, Anorexia ORPHA:100083
Aids Wasting Syndrome
Cachexia, Weight loss, Anorexia ORPHA:90081
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Autism, Susceptibility To, 3
Impaired ability to form peer relationships, Restrictive behavior, Inflexible adherence to routin... OMIM:608049
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Methemoglobinemia, Exertional dyspnea, Polycythemia OMIM:250800
Stuve-Wiedemann Syndrome 2
Respiratory distress, Neonatal death, Thrombocytopenia, Stillbirth, Dysphagia OMIM:619751
Phosphoserine Aminotransferase Deficiency
Apnea, Cyanotic episode OMIM:610992
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis OMIM:302000
Acquired Methemoglobinemia
Respiratory distress, Cyanosis, Methemoglobinemia, Dyspnea, Hypoxemia ORPHA:464453
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Benign Familial Infantile Epilepsy
Interictal epileptiform activity, Apnea, Cyanosis, Normal interictal EEG ORPHA:306
Lennox-Gastaut Syndrome
Abnormal brainstem morphology, Aggressive behavior, Hyperactivity, EEG abnormality, EEG with foca... ORPHA:2382
Pleural Mesothelioma
Respiratory distress, Dyspnea, Dysphagia, Weight loss ORPHA:50251
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Idiopathic Achalasia
Weight loss, Dysphagia ORPHA:930
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Focal EEG discharges with secon... ORPHA:3077
Laryngotracheoesophageal Cleft
Dyspnea, Choking episodes, Cyanosis, Impaired oropharyngeal swallow response ORPHA:2004
Slc35A1-Cdg
Giant platelets, Respiratory distress, Subcutaneous hemorrhage, Abnormal platelet granules, Throm... ORPHA:238459
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Dysphagia, Sudden... OMIM:254210
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Polyphagia, Reduced social reciprocity ORPHA:329249
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Increased theta frequency activity in EEG, Apnea, Focal EEG discharges with ... ORPHA:1949
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Abnormal motor nerve conduction velocity, Dysphagia, Failure to thrive OMIM:614399
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Reduced social reciprocity, Stereotypical hand wringing ORPHA:397933
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Abnormal soci... ORPHA:101039
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Dysphagia, Sudden... OMIM:605809
Gaucher Disease Type 2
Respiratory distress, Dysphagia, Splenomegaly, Abnormal pattern of respiration ORPHA:77260
Primary Familial Polycythemia
Dyspnea, Exertional dyspnea, Polycythemia, Abnormal hemoglobin ORPHA:90042
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Malaria
Respiratory distress, Anemia, Thrombocytopenia ORPHA:673
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Chronic Hiccup
Abnormal eating behavior, Weight loss ORPHA:396
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Sideroblastic anemia, Dysphagia, Failure to thrive OMIM:613561
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Hyperoxemia, Dyspnea, Small for gestational age ORPHA:70589
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Undifferentiated Pleomorphic Sarcoma
Weight loss, Anorexia ORPHA:2023
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Laryngeal Abductor Paralysis
Dysphagia, Cyanosis OMIM:150260
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Cachexia, Weight loss, Failure to thrive OMIM:612075
Isaacs Syndrome
Weight loss, EEG abnormality ORPHA:84142
Immunodeficiency 95
Respiratory distress, Lymphopenia OMIM:619773
Surfactant Metabolism Dysfunction, Pulmonary, 1
Failure to thrive, Apnea, Cyanosis, Neonatal death, Tachypnea, Dyspnea OMIM:265120
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Respiratory distress, Anorexia, Splenomegaly, Thrombocytopenia, Neutropenia, A... ORPHA:79312
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae, Failure to thrive, Abnormal brainstem MRI signal intensity ORPHA:51188
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Paroxysmal dyspnea, Failure to thrive, Abnormal brainstem MRI signal intensity ORPHA:444013
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Cyanosis, Splenomegaly ORPHA:2414
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Alpha-Thalassemia
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... ORPHA:846
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Decreased body weight OMIM:300580
Galactose Epimerase Deficiency
Jaundice, Weight loss, Splenomegaly ORPHA:79238
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Failure to thrive in infancy, Tachypnea, Hypoxemia ORPHA:264675
Muscular Hypertonia, Lethal
Respiratory distress OMIM:254120
Recurrent Respiratory Papillomatosis
Failure to thrive, Respiratory distress, Tachypnea, Dyspnea, Choking episodes, Dysphagia ORPHA:60032
Bardet-Biedl Syndrome 16
Respiratory distress, Obesity OMIM:615993
Choanal Atresia
Respiratory distress, Choking episodes, Cyanosis ORPHA:137914
Severe Acute Respiratory Syndrome
Respiratory distress, Dyspnea, Hypoxemia ORPHA:140896
Surfactant Metabolism Dysfunction, Pulmonary, 3
Failure to thrive, Respiratory distress, Apnea, Cyanosis, Neonatal death, Tachypnea, Exertional d... OMIM:610921
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Restlessness, Abnormal brainstem MRI signal intensity ORPHA:263410
Succinic Acidemia
Respiratory distress OMIM:600335
Infant Acute Respiratory Distress Syndrome
Cyanosis, Tachypnea, Nasal flaring, Hypoxemia ORPHA:70587
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea, Weight loss, Thrombocytopenia, Anorexia ORPHA:79242
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Failure to thrive OMIM:300934
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss, Splenomegaly, Anorexia ORPHA:86893
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Exertional dyspnea, We... ORPHA:514
Autoimmune Pulmonary Alveolar Proteinosis
Dyspnea, Hypoxemia, Weight loss, Cyanosis ORPHA:747
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea ORPHA:1832
Acute Promyelocytic Leukemia
Bruising susceptibility, Anorexia, Pancytopenia, Leukopenia, Leukocytosis, Petechiae, Ecchymosis,... ORPHA:520
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Failure to thrive ORPHA:26792
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress ORPHA:238329
Refractory Anemia
Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Neut... ORPHA:98826
Dravet Syndrome
EEG with generalized epileptiform discharges, Obsessive-compulsive trait, Cyanotic episode, Inter... ORPHA:33069
Congenital Disorder Of Glycosylation, Type Ie
Failure to thrive, Respiratory distress, Splenomegaly, Pontocerebellar atrophy, Telangiectasia, E... OMIM:608799
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Failure to thrive OMIM:245590
Hsd10 Disease
Gait disturbance, Ataxia, Dysphagia, Abnormal social behavior, Choreoathetosis ORPHA:391417
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Primary Pulmonary Hypoplasia
Failure to thrive, Apnea, Cyanosis, Tachypnea, Hypoxemia ORPHA:2257
Myoclonic-Astatic Epilepsy
EEG with irregular generalized spike and wave complexes, EEG with generalized slow activity, EEG ... ORPHA:1942
Pitt-Hopkins-Like Syndrome 1
Reduced social reciprocity, Aggressive behavior, Attention deficit hyperactivity disorder, Hypera... OMIM:610042
Eosinophilic Fasciitis
Eosinophilia, Abnormal eosinophil morphology, Weight loss, Acrocyanosis ORPHA:3165
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Failure to thrive in infancy, EEG with focal sharp waves, EEG with polyspike wave complexes, Cyan... ORPHA:284417
Sepsis In Premature Infants
Leukocytosis, Splenomegaly, Cyanosis, Petechiae, Decreased body weight, Anemia, Neutropenia, Thro... ORPHA:90051
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea, Hypsarrhythmia, EEG with generalized slow activity, Multifocal epile... ORPHA:79097
11Q22.2Q22.3 Microdeletion Syndrome
Compulsive behaviors, Attention deficit hyperactivity disorder, Abnormal social behavior ORPHA:444002
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Howell-Jolly bodies, Interictal EEG abnormality, Sideroblastic anemia, Pappenheimer bodies, Eryth... OMIM:301310
Neuralgic Amyotrophy
Acrocyanosis ORPHA:2901
Primary Myelofibrosis
Extramedullary hematopoiesis, Anorexia, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomeg... ORPHA:824
Acute Lung Injury
Respiratory distress, Addictive alcohol use, Tachypnea, Dyspnea, Hypoxemia ORPHA:178320
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Neuromuscular dysphagia ORPHA:240085
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Undetectable visual evoked potentials, Episodic tachypnea, Abnormal brainstem morphology, Apneic ... ORPHA:163961
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Dysphagia, Weight loss ORPHA:142
Immunodeficiency 27A
Anorexia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Weight loss, Thrombocytosis, Anemia, Hi... OMIM:209950
Diffuse Alveolar Hemorrhage
Leukocytosis, Anemia, Weight loss, Thrombocytopenia, Dyspnea, Hypoxemia ORPHA:90060
Reticular Dysgenesis
Failure to thrive, Leukopenia, Weight loss, Anemia, Abnormality of neutrophils ORPHA:33355
Congenital Diaphragmatic Hernia
Respiratory distress, Hypoxemia ORPHA:2140
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Failure to thrive in infancy, Dysphagia ORPHA:254875
Idiopathic Chronic Eosinophilic Pneumonia
Generalized abnormality of skin, Hypereosinophilia, Leukocytosis, Weight loss, Dyspnea, Hypoxemia ORPHA:2902
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Apnea, EEG abnormality OMIM:261680
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Failure to thrive OMIM:616974
Mu-Heavy Chain Disease
Anemia, Weight loss, Abnormal B cell count, Splenomegaly ORPHA:100024
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Leukopenia, Leukocytosis, Tachypnea, Addictive alcohol use, Neutrophilia, D... ORPHA:36238
Postsynaptic Congenital Myasthenic Syndromes
Exertional dyspnea, Orthopnea, Cyanosis ORPHA:98913
Stt3B-Cdg
Respiratory distress, Failure to thrive, Thrombocytopenia ORPHA:370924
Restrictive Dermopathy 2
Respiratory distress, Cyanosis OMIM:619793
Asbestos Intoxication
Oxygen desaturation on exertion, Cyanosis, Exertional dyspnea, Dyspnea, Hypoxemia ORPHA:2302
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Failure to thrive, Respiratory distress, Megaloblastic anemia, Neutropenia, Jaundice OMIM:250940
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia, Cyanosis OMIM:250790
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Tachypnea, Dyspnea OMIM:267450
Multicentric Reticulohistiocytosis
Cachexia, Histiocytosis ORPHA:139436
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Failure to thrive, Respiratory distress, Interictal EEG abnormality, EEG with generalized slow ac... ORPHA:544503
Huntington Disease
Decreased body mass index, Oral-pharyngeal dysphagia, Disinhibition, Polyphagia, Addictive alcoho... ORPHA:399
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Failure to thrive, Thrombocytopenia OMIM:615597
Pulmonary Alveolar Proteinosis, Acquired
Dyspnea, Hypoxemia, Cyanosis OMIM:610910
Childhood Absence Epilepsy
Depression, EEG with spike-wave complexes (2.5-3.5 Hz), Punding, Attention deficit hyperactivity ... ORPHA:64280
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Decreased mean corpuscular volume, Cutaneous photosensitivity, Small f... OMIM:616943
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Apnea, Recurrent hand flapping, Cyanosis, Aggressive behavior, Attention deficit hyperactivity di... OMIM:619580
Aggressive Systemic Mastocytosis
Anorexia, Urticaria, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased pro... ORPHA:98850
Pneumocystosis
Weight loss, Exertional dyspnea, Dyspnea, Abnormal neutrophil count, Hypoxemia ORPHA:723
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... OMIM:300946
Oromandibular Dystonia
Respiratory distress, Bruxism, Weight loss, Dysphagia ORPHA:93958
Acute Interstitial Pneumonia
Reduced hematocrit, Cyanosis, Tachypnea, Dyspnea, Hypoxemia ORPHA:79126
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss, Dysphagia ORPHA:2198
Leishmaniasis
Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Weight loss, Thrombocytop... ORPHA:507
Progressive Supranuclear Palsy
Depression, Falls, Emotional lability, Irritability, Unsteady gait, Dysphagia, Impulsivity, Abnor... ORPHA:683
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Wilson Disease
Bruising susceptibility, Failure to thrive, Splenomegaly, Increased body weight, Aggressive behav... ORPHA:905
Central Diabetes Insipidus
Weight loss, Polydipsia, Failure to thrive, Anorexia ORPHA:178029
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia ORPHA:848
Gómez-López-Hernández Syndrome
Abnormal brainstem morphology ORPHA:1532
Childhood Disintegrative Disorder
Abnormal emotion, Motor stereotypy, Reduced social reciprocity ORPHA:168782
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea, Large for gestational age ORPHA:45452
Huntington Disease-Like 2
Weight loss ORPHA:98934
Tricuspid Atresia
Cyanosis ORPHA:1209
Joubert Syndrome 7
Hypoplasia of the brainstem, Episodic tachypnea, Brainstem dysplasia, Tachypnea, Central apnea, M... OMIM:611560
Intestinal Dysmotility Syndrome
Weight loss, Failure to thrive OMIM:620045
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret... ORPHA:35858
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Dyspnea, Weight loss, Hypoxemia ORPHA:79127
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Anemia, Thrombocytopenia, Neutropenia ORPHA:289916
Hereditary Central Diabetes Insipidus
Weight loss, Polydipsia ORPHA:30925
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Erythema, Angioedema ORPHA:100057
N-Acetylglutamate Synthase Deficiency
Failure to thrive, Respiratory distress, Aggressive behavior, Tachypnea, Anorexia OMIM:237310
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal brainstem morphology, Failure to thrive ORPHA:255182
Laryngomalacia
Respiratory distress OMIM:150280
Pontocerebellar Hypoplasia Type 10
Abnormal brainstem morphology ORPHA:411493
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Dyspnea, Weight loss ORPHA:411703
Surfactant Metabolism Dysfunction, Pulmonary, 2
Failure to thrive, Respiratory distress, Cyanosis, Tachypnea, Dyspnea, Hypoxemia OMIM:610913
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Failure to thriv... ORPHA:231226
Congenital Myasthenic Syndrome
Cyanosis, EEG with polyspike wave complexes, Episodic respiratory distress, Apneic episodes preci... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis, EEG with polyspike wave complexes, Episodic respiratory distress, Apneic episodes preci... ORPHA:98914
Buerger Disease
Livedo reticularis, Acrocyanosis ORPHA:36258
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Dysphagia ORPHA:240103
Idiopathic Pulmonary Fibrosis
Acrocyanosis, Orthodeoxia, Exertional dyspnea ORPHA:2032
Necrotizing Enterocolitis
Apnea, Leukocytosis, Cyanosis, Thrombocytopenia, Neutropenia, Small for gestational age ORPHA:391673
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Failure to thriv... ORPHA:231214
Spinocerebellar Ataxia Type 1
Abnormal nerve conduction velocity, Abnormality of somatosensory evoked potentials, Abnormal brai... ORPHA:98755
Triosephosphate Isomerase Deficiency
Normocytic anemia, Failure to thrive, Respiratory distress, Splenomegaly, Macrocytic anemia, Prol... OMIM:615512
Hsd10 Disease, Infantile Type
Paroxysmal bursts of laughter, Restlessness, Dysphagia, Cyanosis ORPHA:391428
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Hyperactivity, Ataxia, Motor stereotypy, Abnormal social behavior ORPHA:530983
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Depression, Recurrent hand flapping, Reduced s... ORPHA:449291
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Nipah Virus Disease
Respiratory distress, Anorexia ORPHA:99825
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae, Failure to thrive OMIM:602473
Polymicrogyria Due To Tubb2B Mutation
Abnormal temper tantrums, Attention deficit hyperactivity disorder, Hypoplasia of the pons, Abnor... ORPHA:300573
Congenitally Uncorrected Transposition Of The Great Arteries
Failure to thrive, Cyanosis, Tachypnea, Hypoxemia, Small for gestational age ORPHA:860
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, Bruising susceptibility, HbH hemoglobin, Failure to thrive ORPHA:98791
Multiple Mitochondrial Dysfunctions Syndrome 7
EEG with burst suppression, Apnea, Cyanosis, Impulsivity, Hypsarrhythmia, Hyperactivity, Thromboc... OMIM:620423
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Congenital Lobar Emphysema
Respiratory distress ORPHA:1928
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Small for gestational age OMIM:616733
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Respiratory distress, Reticulocytosis, Schistocytosis, Thrombo... OMIM:274150
Thyroid Lymphoma
Respiratory distress, Dyspnea, Dysphagia ORPHA:97285
Parkinsonism-Dystonia 3, Childhood-Onset
Depression, Reduced social reciprocity, Aggressive behavior, Ataxia, Dysphagia OMIM:619738
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Failure to thrive, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Cachexia, Weight loss, Anemia, Decreased sensory nerve... ORPHA:298
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress OMIM:619466
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Oculopharyngodistal Myopathy
Weight loss, Impaired oropharyngeal swallow response, Oral-pharyngeal dysphagia ORPHA:98897
Takayasu Arteritis
Anemia, Weight loss, Abnormal pattern of respiration, Anorexia ORPHA:3287
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Motor stereotypy, Failure to thrive, Agitation ORPHA:927
Gaucher Disease, Perinatal Lethal
Respiratory distress, Hepatosplenomegaly, Apnea, Splenomegaly, Petechiae, Neonatal death, Decreas... OMIM:608013
Primary Dystonia, Dyt4 Type
Respiratory distress, Eunuchoid habitus, Dysphagia ORPHA:98805
Chronic Beryllium Disease
Dyspnea, Weight loss, Abnormal proportion of CD4-positive T cells ORPHA:133
Erythrokeratodermia Variabilis
Erythema, Weight loss, Cutaneous photosensitivity ORPHA:317
20Q11.2 Microdeletion Syndrome
Brainstem dysplasia ORPHA:444051
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Dysphagia, Interictal epileptiform activity OMIM:620166
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Hypoplastic spleen, Dysphagia ORPHA:89844
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia OMIM:618849
Myasthenia Gravis
Hemolytic anemia, Dysphagia, Dyspnea, Pure red cell aplasia, Acrocyanosis ORPHA:589
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Failure to thrive ORPHA:261304
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Perry Syndrome
Weight loss, Central hypoventilation ORPHA:178509
Shwachman-Diamond Syndrome 1
Failure to thrive, Persistence of hemoglobin F, Respiratory distress, Pancytopenia, Acute myeloid... OMIM:260400
Isolated Right Ventricular Hypoplasia
Dyspnea, Hypoxemia, Cyanosis ORPHA:439
Chiari Malformation Type Ii
Dysphagia, Cyanosis OMIM:207950
Pulmonary Arteriovenous Malformation
Cyanosis, Telangiectasia, Iron deficiency anemia, Dyspnea, Hypoxemia ORPHA:2038
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Failure to thrive in infancy, Aggressive behavior, Dysphagia, Cyanosis ORPHA:488627
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Dysphagia, Hypoplasia of the pons, Impulsivity ORPHA:280195
Perry Syndrome
Inappropriate behavior, Central hypoventilation, Hypoventilation, Disinhibition, Weight loss OMIM:168605
Thymoma
Aplastic anemia, Leukemia, Imbalanced hemoglobin synthesis, Weight loss, Dyspnea, Pure red cell a... ORPHA:99867
Benign Recurrent Intrahepatic Cholestasis
Jaundice, Weight loss, Anorexia ORPHA:65682
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Avian Influenza
Respiratory distress, Lymphopenia, Leukopenia, Tachypnea, Thrombocytopenia, Dyspnea, Hypoxemia ORPHA:454836
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Respiratory distress, Dysphagia OMIM:620375
Mast Cell Sarcoma
Mastocytosis, Weight loss, Splenomegaly ORPHA:66661
Alexander Disease Type I
Cachexia, Dysphagia, Failure to thrive ORPHA:363717
Mulibrey Nanism
Cachexia ORPHA:2576
Congenital Fibrinogen Deficiency
Subcutaneous hemorrhage, Bruising susceptibility, Splenic rupture, Cyanosis ORPHA:335
Tularemia
Respiratory distress, Anemia, Leukocytosis, Thrombocytopenia ORPHA:3392
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Failure to thrive OMIM:618201
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla... ORPHA:231222
Rett Syndrome
Bruxism, Apnea, Stereotypical hand wringing, Intermittent hyperventilation, Cachexia, EEG abnorma... OMIM:312750
Tetrasomy 5P
Respiratory distress, Cyanosis, Failure to thrive ORPHA:3309
Graves Disease
Polyphagia, Weight loss, Hyperactivity OMIM:275000
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Bruising susceptibility, Leukocytosis, Splenomegaly, Weight loss, Thrombocytopeni... ORPHA:3226
Japanese Encephalitis
Abnormal midbrain morphology, Decreased motor nerve conduction velocity, Abnormal pattern of resp... ORPHA:79139
Eosinophilic Gastroenteritis
Leukocytosis, Eosinophilia, Weight loss, Anemia, Dysphagia ORPHA:2070
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
3-Hydroxy-3-Methylglutaric Aciduria
Anorexia, Leukopenia, Apnea, Leukocytosis, Tachypnea, Weight loss, Hypsarrhythmia, EEG abnormalit... ORPHA:20
Metachromatic Leukodystrophy, Late Infantile Form
Tip-toe gait, Decreased nerve conduction velocity, Gait ataxia, Emotional lability, Progressive g... ORPHA:309256
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Failure to thrive OMIM:614407
Juvenile Huntington Disease
Weight loss, Hyperactivity ORPHA:248111
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Spinocerebellar Ataxia 48
Cachexia, Dysphagia OMIM:618093
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Paradoxical respiration OMIM:620011
Pulmonary Capillary Hemangiomatosis
Dyspnea, Hypoxemia, Exertional dyspnea, Cyanosis ORPHA:199241
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress ORPHA:254864
Mitochondrial Phosphate Carrier Deficiency
Cyanosis OMIM:610773
Kasabach-Merritt Phenomenon
Hypopnea, Microangiopathic hemolytic anemia, Respiratory distress, Leukopenia, Reticulocytosis, P... ORPHA:2330
Moebius Syndrome
Respiratory distress, Dysphagia, Hypoplasia of the brainstem OMIM:157900
Congenital Tricuspid Valve Dysplasia
Cyanosis, Tachypnea, Small for gestational age, Hypoxemia ORPHA:555874
Double Outlet Right Ventricle
Tachypnea, Cyanosis, Failure to thrive ORPHA:3426
Thymic Carcinoma
Dyspnea, Weight loss ORPHA:99868
Familial Nasal Acilia
Respiratory distress, Dyspnea ORPHA:922
Congenital Heart Block
Cyanosis ORPHA:60041
Myotonic Dystrophy 1
Respiratory distress, Dysphagia, Obsessive-compulsive trait OMIM:160900
Fatal Familial Insomnia
Apnea, Dysphagia, Weight loss OMIM:600072
Malignant Peritoneal Mesothelioma
Dyspnea, Weight loss ORPHA:168811
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea ORPHA:86812
Tubulinopathy-Associated Dysgyria
Abnormal brainstem morphology, Attention deficit hyperactivity disorder, Hypoplasia of the pons ORPHA:467166
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Rhabdoid Tumor
Anemia, Weight loss, Thrombocytopenia ORPHA:69077
Meconium Aspiration Syndrome
Respiratory distress, Hypoxemia ORPHA:70588
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Self-injurious behavior, Recurrent hand flapping, Persistence of hemoglobin F OMIM:617101
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypopnea, Failure to thrive, Respiratory distress, Apnea, Cyanosis OMIM:618426
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress OMIM:615042
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Prolonged neonatal jaundice, Large for gestational age ORPHA:226313
Christianson Syndrome
Inappropriate laughter, Cachexia, Motor stereotypy, Dysphagia ORPHA:85278
Huntington Disease-Like 1
Restlessness, Weight loss, EEG abnormality ORPHA:157941
Hypoglossia With Situs Inversus
Respiratory distress, Asplenia, Polysplenia OMIM:612776
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Severe failure to thrive, Cyanosis ORPHA:3304
Microlissencephaly-Micromelia Syndrome
Respiratory distress, EEG abnormality, Failure to thrive ORPHA:50810
Acquired Central Diabetes Insipidus
Weight loss, Polydipsia ORPHA:95626
Early-Onset Autosomal Dominant Alzheimer Disease
Disinhibition, Abnormal social behavior, Agitation, Ataxia ORPHA:1020
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior ORPHA:309246
Toxic Epidermal Necrolysis
Erythema, Polydipsia, Respiratory distress, Weight loss, Thrombocytopenia, Neutropenia, Anemia, D... ORPHA:537
Classic Hodgkin Lymphoma
Weight loss, Splenomegaly, Anorexia ORPHA:391
Congenital Laryngeal Web
Respiratory distress ORPHA:2374
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress ORPHA:1143
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Weight loss ORPHA:1164
Bronchial Neuroendocrine Tumor
Facial telangiectasia, Dermatological manifestations of systemic disorders, Weight loss, Anorexia... ORPHA:97287
Huntington Disease-Like 2
Weight loss OMIM:606438
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Urticaria, Flushing, Leukocytosis, Splenomega... ORPHA:98849
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss, Cutaneous photosensitivity ORPHA:312
Methylmalonic Aciduria, Cblb Type
Failure to thrive, Respiratory distress, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:251110
Idiopathic Bronchiectasis
Dyspnea, Cachexia ORPHA:60033
Moynahan Syndrome
Cachexia ORPHA:2574
Follicular Lymphoma
Weight loss, Splenomegaly ORPHA:545
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Failure to thrive, Respiratory distress, Leukopenia, Thrombocytopenia, Neutropenia OMIM:251000
Aicardi-Goutieres Syndrome 1
Erythema, Splenomegaly, Self-mutilation, Petechiae, Purpura, Thrombocytopenia, Prolonged neonatal... OMIM:225750
Pulmonary Alveolar Microlithiasis
Oxygen desaturation on exertion, Cyanosis, Tachypnea, Weight loss, Exertional dyspnea, Dyspnea, H... ORPHA:60025
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia, Abnormality of visual evoked potentials ORPHA:1389
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Telangiectasia, Abnormal brainstem morphology, Telangiectasia of the skin ORPHA:79279
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Failure to thrive, Respiratory distre... ORPHA:206436
X-Linked Centronuclear Myopathy
Respiratory distress ORPHA:596
Alfadhel Syndrome
Aggressive behavior, Nasal flaring OMIM:620655
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Hepatosplenomegaly, Failure to thrive, Generalized abnormality of skin ORPHA:367
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Oxygen desaturation on exertion, Tachypnea, Hypoxemia OMIM:610978
Acquired Purpura Fulminans
Acrocyanosis, Thrombocytopenia, Macular purpura ORPHA:49566
Carnitine Deficiency, Systemic Primary
Respiratory distress, Failure to thrive OMIM:212140
Methylmalonic Aciduria, Cbla Type
Failure to thrive, Respiratory distress, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:251100
Ziegler-Huang Syndrome
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F OMIM:620501
Esophageal Atresia
Respiratory distress, Failure to thrive in infancy, Cyanosis, Oral aversion, Episodic respiratory... ORPHA:1199
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Episodic tachypnea, Obesity, Tachypnea, Jaundice, Overweight, Small for ges... ORPHA:26793
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Granulocytopenia, Macrocytic anemia OMIM:606164
Riboflavin Transporter Deficiency
Aggressive behavior, Cachexia, Dysphagia ORPHA:97229
Beta-Ketothiolase Deficiency
Thrombocytosis, Leukocytosis, Oral aversion, Tachypnea, Weight loss, Anorexia, Agitation ORPHA:134
Majeed Syndrome
Failure to thrive, Leukocytosis, Splenomegaly, Cachexia, Weight loss, Hypochromic microcytic anem... ORPHA:77297
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, EEG with burst suppression, Failure to thrive ORPHA:329178
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin ... OMIM:617052
Tetanus
Respiratory distress, Tachypnea, Dysphagia ORPHA:3299
Atrial Septal Defect, Ostium Primum Type
Failure to thrive, Cyanosis, Tachypnea, Exertional dyspnea, Dyspnea ORPHA:99106
Complete Atrioventricular Septal Defect
Tachypnea, Intercostal retractions, Cyanosis, Failure to thrive ORPHA:1329
Refractory Celiac Disease
Normocytic anemia, Microcytic anemia, Abnormal spleen physiology, Macrocytic anemia, Increased pr... ORPHA:398063
Peripheral Primitive Neuroectodermal Tumor
Abnormal superior cerebellar peduncle morphology, Weight loss, Anorexia, Anemia, Jaundice ORPHA:370348
Bone Dysplasia, Lethal Holmgren Type
Anemia, Weight loss, Failure to thrive ORPHA:1842
Pfapa Syndrome
Weight loss, Splenomegaly ORPHA:42642
Lead Poisoning
Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Attention deficit hyperactivity diso... ORPHA:330015
Congenital Enterovirus Infection
Respiratory distress, Leukopenia, Leukocytosis, Abnormal macrophage morphology, Neutropenia, Thro... ORPHA:292
Eosinophilic Granulomatosis With Polyangiitis
Cutis marmorata, Eosinophilia, Weight loss, Dysphagia, Acrocyanosis, Purpura, Urticaria ORPHA:183
Familial Acute Necrotizing Encephalopathy
Abnormal brainstem morphology, Abnormal pattern of respiration, Abnormal brainstem MRI signal int... ORPHA:88619
Drug Reaction With Eosinophilia And Systemic Symptoms
Erythema, Angioedema, Eosinophilia, Lymphocytosis, Weight loss, Dyspnea ORPHA:139402
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Sudden episodic apnea ORPHA:159
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Apnea, EEG abnormality, Hypoventilation ORPHA:314655
Castleman Disease
Anemia, Weight loss, Thrombocytopenia, Dyspnea, Jaundice, Decreased mean corpuscular volume ORPHA:160
Ethylene Glycol Poisoning
Abnormal pattern of respiration, Cyanosis, Episodic respiratory distress, Addictive alcohol use, ... ORPHA:31826
Desmoplastic Small Round Cell Tumor
Anemia, Cachexia, Weight loss ORPHA:83469
Bullous Pemphigoid
Erythema, Weight loss, Urticaria ORPHA:703
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Abnormal brainstem morphology, Elongated superior cerebellar peduncle ORPHA:370022
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss, Reduced subcutaneous adipose tissue, Premature graying of hair ORPHA:1979
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Difficulty walking, Restlessness, Agitation ORPHA:100924
X-Linked Agammaglobulinemia
Failure to thrive, Weight loss, Thrombocytopenia, Neutropenia, Anemia ORPHA:47
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea ORPHA:2759
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Self-injurious behavior, Abnormal midbrain morphology, Polydipsia, Central hypoventilation, Obesi... ORPHA:293987
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Cachexia, Abnormality of visual evoked potentials ORPHA:1933
Q Fever
Respiratory distress, Hepatosplenomegaly, Splenomegaly, Weight loss, Thrombocytopenia, Anorexia, ... ORPHA:781
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Emotional lability, Progressive gait ataxia, Abnormal social... ORPHA:309263
Alternating Hemiplegia Of Childhood
Failure to thrive, Oral-pharyngeal dysphagia, Respiratory distress, Flushing, Apnea, Aggressive b... ORPHA:2131
Cronkhite-Canada Syndrome
Anemia, Cachexia, Splenomegaly, Anorexia ORPHA:2930
Mercury Poisoning
Respiratory distress, Dyspnea, Anorexia ORPHA:330021
Unilateral Polymicrogyria
Apnea, Cyanosis, Giant somatosensory evoked potentials, Pseudobulbar paralysis ORPHA:268943
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Anemia, Exertional dyspnea, Failure to thrive OMIM:220110
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Nocturnal hypoventilation, Dyspnea, Dysphagia OMIM:211530
Ménétrier Disease
Weight loss, Hypochromic microcytic anemia, Anorexia ORPHA:2494
Classic Pantothenate Kinase-Associated Neurodegeneration
Attention deficit hyperactivity disorder, Weight loss, Dysphagia ORPHA:216866
Benign Familial Neonatal-Infantile Seizures
Apnea, Continuous spike and waves during slow sleep, EEG with focal spikes ORPHA:140927
Idiopathic Hypereosinophilic Syndrome
Failure to thrive, Angioedema, Respiratory distress, Hepatosplenomegaly, Thrombocytosis, Leukocyt... ORPHA:3260
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Tachypnea OMIM:614299
Wolman Disease
Anemia, Cachexia, Bone-marrow foam cells, Splenomegaly ORPHA:75233
Neuroblastoma
Respiratory distress, Anemia, Weight loss, Thrombocytopenia ORPHA:635
Diamond-Blackfan Anemia 10
Respiratory distress, Macrocytic anemia, Steroid-responsive anemia, Reticulocytopenia, Anemia OMIM:613309
Mogs-Cdg
Respiratory distress, Hepatosplenomegaly, Apnea, Hypoventilation, Absent brainstem auditory respo... ORPHA:79330
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Urticaria, Failure to thrive in infancy, Autoimmune hemolytic anemia, Splen... ORPHA:37042
Odontochondrodysplasia
Respiratory distress ORPHA:166272
Al Amyloidosis
Howell-Jolly bodies, Bruising susceptibility, Anemia, Weight loss, Dyspnea, Dysphagia ORPHA:85443
Polyarteritis Nodosa
Erythema, Cutis marmorata, Weight loss ORPHA:767
Hereditary Angioedema Type 1
Dermatographic urticaria, Respiratory distress, Dyspnea, Dysphagia, Urticaria ORPHA:100050
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, EEG with burst suppression, Apnea, Cyanosis OMIM:261740
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infan... ORPHA:348
Congenital Muscular Dystrophy With Cerebellar Involvement
Abnormal brainstem morphology, Hypoplasia of the brainstem, Hypoplasia of the pons, Olivopontocer... ORPHA:370959
Focal Myositis
Weight loss ORPHA:48918
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Failure to thrive ORPHA:2707
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Failure to thrive OMIM:619272
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia ORPHA:157973
Double Outlet Left Ventricle
Tachypnea, Cyanosis, Failure to thrive ORPHA:3427
Lissencephaly 9 With Complex Brainstem Malformation
Enlarged tectum, Dysphagia, Hypoplasia of the pons, Hypoplasia of the brainstem OMIM:618325
Cardiogenic Shock
Dyspnea, Cyanosis, Orthopnea, Hypoxemia ORPHA:97292
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress ORPHA:1145
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Failure to thrive OMIM:615595
Hirschsprung Disease
Failure to thrive in infancy, Weight loss ORPHA:388
Hypercalcemia, Infantile, 1
Weight loss, Failure to thrive OMIM:143880
Myasthenic Syndrome, Congenital, 21, Presynaptic
Apnea, Cyanosis OMIM:617239
Lymphoid Interstitial Pneumonia
Dyspnea, Weight loss, Hypoxemia, Failure to thrive ORPHA:79128
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Neonatal death OMIM:300219
Stevens-Johnson Syndrome
Erythema, Anemia, Weight loss, Thrombocytopenia, Dyspnea, Abnormality of neutrophils, Dysphagia ORPHA:36426
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Poems Syndrome
Polycythemia, Splenomegaly, Plethora, Weight loss, Thrombocytosis, Acrocyanosis ORPHA:2905
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Failure to thrive in infancy, Splenomegaly, Neutrophilia OMIM:612852
Joubert Syndrome 8
Prolonged neonatal jaundice, Hyperventilation, Obesity, Molar tooth sign on MRI OMIM:612291
Joubert Syndrome 2
Failure to thrive, Hypoplasia of the brainstem, Episodic tachypnea, Brainstem dysplasia, Elongate... OMIM:608091
Craniofaciofrontodigital Syndrome
Premature skin wrinkling, Respiratory distress, Large for gestational age, Palmoplantar cutis lax... ORPHA:363705
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Abnormal brainstem morphology, EEG with focal spike waves, Abnormal pons morphology ORPHA:370997
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Attention deficit hyperactivity disorder OMIM:619383
Loeffler Endocarditis
Dyspnea, Eosinophilia, Weight loss ORPHA:75566
Fucosidosis
Acrocyanosis, Failure to thrive, Vascular skin abnormality ORPHA:349
Primary Hepatic Neuroendocrine Carcinoma
Facial telangiectasia, Intermittent jaundice, Weight loss, Anorexia, Dyspnea ORPHA:100085
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Abnormal midbrain morphology, Abnorma... ORPHA:206448
Metachromatic Leukodystrophy, Adult Form
Depression, Difficulty walking, Decreased nerve conduction velocity, Emotional lability, Progress... ORPHA:309271
Hyperimmunoglobulinemia D With Periodic Fever
Erythema, Acrocyanosis, Purpura, Urticaria ORPHA:343
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Irregular respiration OMIM:604377
Tarp Syndrome
Apnea, Failure to thrive, Cyanosis, Extramedullary hematopoiesis ORPHA:2886
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Mitochondrial Complex I Deficiency, Nuclear Type 1
Undetectable visual evoked potentials, Failure to thrive, Apnea, Cyanosis, Splenomegaly OMIM:252010
Congenital Tracheomalacia
Intercostal retractions, Failure to thrive, Apnea, Cyanosis, Dyspnea ORPHA:95430
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Overweight, Persistence of hemoglobin F OMIM:619769
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Self-injurious behavior, Severe failure to thrive, Cachexia, EEG abnormality ORPHA:371364
Flynn-Aird Syndrome
Cachexia, EEG abnormality ORPHA:2047
Amoebiasis Due To Entamoeba Histolytica
Dyspnea, Anemia, Weight loss, Leukocytosis ORPHA:67
Isolated Atp Synthase Deficiency
Respiratory distress ORPHA:254913
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Non-Functioning Paraganglioma
Weight loss, Flushing ORPHA:94080
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Palmoplantar cutis laxa, Central apnea, Neonatal death OMIM:616482
Oculopharyngodistal Myopathy 1
Respiratory distress, Weight loss, Dysphagia, Hypercapnia OMIM:164310
Neuropathy, Congenital Hypomyelinating, 3
Cachexia, Decreased motor nerve conduction velocity, Neonatal death OMIM:618186
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Jaundice, Neonatal death OMIM:231680
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Waardenburg Syndrome Type 3
Acrocyanosis ORPHA:896
Felty Syndrome
Abnormal lymphocyte morphology, Splenomegaly, Weight loss, Thrombocytopenia, Neutropenia, Anemia ORPHA:47612
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Mgat2-Cdg
Failure to thrive, Respiratory distress, Stereotypical hand wringing, Hypsarrhythmia, Impaired ly... ORPHA:79329
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Leukopenia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia OMIM:617303
Joubert Syndrome 1
Hypoplasia of the brainstem, Episodic tachypnea, Brainstem dysplasia, Self-mutilation, Aggressive... OMIM:213300
Rodrigues Blindness
Nasal flaring, Ectodermal dysplasia OMIM:268320
Chitayat Syndrome
Respiratory distress OMIM:617180
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Mcdonough Syndrome
Cachexia ORPHA:2471
Lujo Hemorrhagic Fever
Respiratory distress, Lymphopenia, Leukopenia, Leukocytosis, Ecchymosis, Purpura, Thrombocytopeni... ORPHA:319213
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Anemia, Weight loss, Neutrophilia ORPHA:54251
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Hermansky-Pudlak Syndrome
Bruising susceptibility, Weight loss, Neutropenia, Anorexia, Dyspnea, Abnormality of visual evoke... ORPHA:79430
Polymyositis
Weight loss, Exertional dyspnea, Anorexia ORPHA:732
Brain-Lung-Thyroid Syndrome
Failure to thrive, Respiratory distress, Abnormal eating behavior, Abnormal drinking behavior, Hy... ORPHA:209905
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Small for gestational age, Failure to thrive OMIM:607143
Neuroendocrine Tumor Of Stomach
Facial telangiectasia, Dermatological manifestations of systemic disorders, Iron deficiency anemi... ORPHA:100075
Farber Disease
Failure to thrive, Respiratory distress, Hepatosplenomegaly, Thrombocytopenia, Anemia ORPHA:333
Odontochondrodysplasia 1
Respiratory distress OMIM:184260
Slc35A2-Cdg
Abnormal midbrain morphology, Failure to thrive in infancy, Hypsarrhythmia, Atrophy/Degeneration ... ORPHA:356961
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis ORPHA:1867
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Exertional dyspnea, Dysphagia, Hypoventilation ORPHA:98915
Goodpasture Syndrome
Cyanosis, Tachypnea, Weight loss, Exertional dyspnea, Anemia OMIM:233450
Acrodermatitis Enteropathica
Erythema, Failure to thrive, Generalized abnormality of skin, Weight loss, Anorexia ORPHA:37
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia, Exertional dyspnea ORPHA:42
Atrial Septal Defect, Coronary Sinus Type
Dyspnea, Exertional dyspnea, Cyanosis ORPHA:99104
Medullary Thyroid Carcinoma
Weight loss, Dysphagia ORPHA:1332
Juvenile Dermatomyositis
Erythema, Cutaneous photosensitivity, Telangiectasia of the skin, Weight loss, Dyspnea, Dysphagia... ORPHA:93672
47,Xyy Syndrome
Abnormal brainstem morphology, Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity ORPHA:8
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Self-injurious behavior, Abnormal hemoglobin ORPHA:847
Kaposi Sarcoma
Abnormality of the spleen, Weight loss ORPHA:33276
Nodular Non-Suppurative Panniculitis
Erythema, Weight loss, Splenomegaly ORPHA:33577
Isolated Succinate-Coq Reductase Deficiency
Weight loss ORPHA:3208
Telangiectasia, Hereditary Hemorrhagic, Type 2
Oral cavity telangiectasia, Polycythemia, Palmar telangiectasia, Tongue telangiectasia, Nail bed ... OMIM:600376
Amyotrophic Lateral Sclerosis
Dyspnea, Cachexia, Dysphagia, Agitation ORPHA:803
Ciliary Dyskinesia, Primary, 2
Respiratory distress OMIM:606763
Secondary Short Bowel Syndrome
Polyphagia, Weight loss, Failure to thrive ORPHA:95427
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Hepatosplenomegaly, Weight loss, Hemophagocytosis ORPHA:86884
Neuroendocrine Tumor Of The Colon
Facial telangiectasia, Weight loss, Anorexia ORPHA:100080
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia OMIM:616801
Osteootohepatoenteric Syndrome
Anemia, Prolonged neonatal jaundice, Weight loss, Failure to thrive OMIM:619377
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anemia, Cachexia, Anorexia OMIM:175500
Atrial Septal Defect, Ostium Secundum Type
Dyspnea, Exertional dyspnea, Orthopnea, Cyanosis ORPHA:99103
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Weight loss, Hyperactivity, Agitation, Small for gestational age ORPHA:424
Neuroblastoma, Susceptibility To, 1
Anemia, Weight loss, Failure to thrive OMIM:256700
Pitt-Hopkins Syndrome
Self-injurious behavior, Failure to thrive, Abnormal pattern of respiration, Aggressive behavior,... ORPHA:2896
Nasolacrimal Duct Cyst
Intercostal retractions, Paroxysmal dyspnea, Episodic respiratory distress ORPHA:141083
Criss-Cross Heart
Cyanosis ORPHA:1461
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Leukopenia, Thrombocytopenia, Neutropenia OMIM:616271
Heterotaxy, Visceral, 1, X-Linked
Failure to thrive, Polysplenia, Respiratory distress, Cyanosis, Aqueductal stenosis, Asplenia OMIM:306955
48,Xxxy Syndrome
Attention deficit hyperactivity disorder, Abnormal aggressive, impulsive or violent behavior, Abn... ORPHA:96263
Adult-Onset Still Disease
Erythema, Leukocytosis, Splenome