{"Name":"Developmental and epileptic encephalopathy, 71","DiseaseID__c":"GARD:0017994","id":17994,"encodedName":"developmental-and-epileptic-encephalopathy-71","IsDeleted":false,"Disease_Name_Full__c":"Developmental and epileptic encephalopathy, 71","Xref_IDs__c":"C5193030; DOID:0112207; MEDGEN:1680812; MONDO:0032678; OMIM:618328; ORPHA:557064","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:557064","Disease_Description__c":"A rare genetic neurometabolic disease characterized by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic edema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.","GARD_Name__c":"Developmental and epileptic encephalopathy, 71","GARD_Synonym__c":"dee71; developmental and epileptic encephalopathy 71; eiee71; epileptic encephalopathy, early infantile, 71; glutaminase deficiency with neonatal epileptic encephalopathy; neonatal epileptic encephalopathy due to deficiency of glutaminase; neonatal epileptic encephalopathy due to glutaminase deficiency","Curated_Disease_Description_Source__c":"ORPHA:557064","Curated_Disease_Description__c":"A rare genetic neurometabolic disease characterized by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic edema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:557064","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0032678","ORPHANET_ID__c":"ORPHA:557064","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Encefalopatía epiléptica neonatal por deficiencia de glutaminasa","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"encefalopatía epiléptica neonatal por deficiencia de glutaminasa","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:98006","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"A rare genetic neurometabolic disease characterized by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic edema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.","Curated_Disease_Description_Source__c":"ORPHA:557064","GARD_Synonym__c":"dee71; developmental and epileptic encephalopathy 71; eiee71; epileptic encephalopathy, early infantile, 71; glutaminase deficiency with neonatal epileptic encephalopathy; neonatal epileptic encephalopathy due to deficiency of glutaminase; neonatal epileptic encephalopathy due to glutaminase deficiency","Name":"Developmental and epileptic encephalopathy, 71","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:557064"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/618328","Source__c":"C5193030; MONDO:0032678; ORPHA:557064","Xref__c":"OMIM:618328"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1680812","Source__c":"C5193030","Xref__c":"MEDGEN:1680812"},{"URL__c":"https://www.orpha.net/en/disease/detail/557064","Source__c":"MONDO:0032678","Xref__c":"ORPHA:557064"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0112207","Source__c":"MONDO:0032678","Xref__c":"DOID:0112207"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5193030","Source__c":"C5193030","Xref__c":"C5193030"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0032678","Source__c":"GARD:0017994","Xref__c":"MONDO:0032678"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1222662000","Source__c":"C5193030","Xref__c":"1222662000"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GLS","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:618328","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The burst suppression pattern in electroencephalography refers to a characteristic periodic pattern of low voltage (<10 microvolts) suppressed background and a relatively shorter pattern of higher amplitude slow, sharp, and spiking complexes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010851","HPO_Name__c":"EEG with burst suppression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"OMIM:618328","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001252","HPO_Synonym__c":"Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia","HPO_Name__c":"Hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618328","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200134","HPO_Synonym__c":"Convulsive encephalopathy","HPO_Name__c":"Epileptic encephalopathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618328","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002093","HPO_Synonym__c":"Respiratory impairment","HPO_Name__c":"Respiratory insufficiency","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618328","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal pattern of respiration characterized by cycles of respiration that are increasingly deeper then shallower with possible periods of apnea. Affected patients may display a 10 to 20 second episode of hypoventilation or apnea, followed by respiration of increased depth and frequency over the course of about one minute. The cycle repeats every 45 seconds to 3 minutes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012196","HPO_Synonym__c":"Cheyne-Stokes breathing; Periodic respiration","HPO_Name__c":"Cheyne-Stokes respiration","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618328","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Gliosis is the focal proliferation of glial cells in the central nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002171","HPO_Synonym__c":"Cerebral gliosis; Excess astrocytes in brain","HPO_Name__c":"Gliosis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618328","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618328","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002878","HPO_Synonym__c":"Respiratory failure","HPO_Name__c":"Respiratory failure","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618328","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009879","HPO_Synonym__c":"Cortical gyral simplification","HPO_Name__c":"Simplified gyral pattern","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618328","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A loss of myelin from nerve fibers in the central nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007305","HPO_Synonym__c":"Demyelination in central white matter","HPO_Name__c":"CNS demyelination","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Neurology","Epilepsy","Neurodevelopmental disabilities","Pediatrics"],"Account":["Epilepsy"]},"synonyms":["dee71"," developmental and epileptic encephalopathy 71"," eiee71"," epileptic encephalopathy, early infantile, 71"," glutaminase deficiency with neonatal epileptic encephalopathy"," neonatal epileptic encephalopathy due to deficiency of glutaminase"," neonatal epileptic encephalopathy due to glutaminase deficiency"]}