{"Name":"Developmental and epileptic encephalopathy, 50","DiseaseID__c":"GARD:0013621","id":13621,"encodedName":"developmental-and-epileptic-encephalopathy-50","IsDeleted":false,"Disease_Name_Full__c":"Developmental and epileptic encephalopathy, 50","Xref_IDs__c":"C190868; C4225320; DOID:0080419; MEDGEN:904125; MONDO:0014647; OMIM:616457; ORPHA:448010","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:448010","Disease_Description__c":"CAD-CDG is a rare congenital disorder of glycosylation caused by mutations in the <i>CAD</i> gene and characterized by epileptic encephalopathy, global developmental delay, normocytic anemia and anisopoikilocytosis. Loss of acquired skills in early childhood is present and natural disease course can be lethal in early childhood.","GARD_Name__c":"Developmental and epileptic encephalopathy, 50","GARD_Synonym__c":"cad-cdg; cad-cdg - carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation; carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation; carbohydrate deficient glycoprotein syndrome type iz; cdg syndrome type iz; cdg-iz; cdg1z; congenital disorder of glycosylation type 1z; dee50; developmental and epileptic encephalopathy 50; eiee50; epileptic encephalopathy, early infantile, 50","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"CAD-CDG is a rare condition that is often diagnosed during infancy. It is caused by changes in a gene called <i>CAD</i> that block an important step involving the sugar glycan. Glycan is needed by the cells and tissues that make up the body. As a result, this condition causes a wide range of health problems. Some common symptoms include seizures, global developmental delay (problems with learning and development), and problems with red blood cells. Red blood cell disorders that can occur with CAD-CDG include anemia (a low number of red blood cells) and anisopoikilocytosis (red blood cells of varying sizes and shapes). Signs and symptoms of CAD-CDG can worsen with time and result in life threatening complications.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:448010","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014647","ORPHANET_ID__c":"ORPHA:448010","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Cad-cdg","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"cad-cdg","Spanish_GARD_Synonym__c":"cdg-iz; cdg1z; síndrome cdg tipo iz; síndrome de glicoproteínas deficientes en carbohidratos tipo iz; trastorno congénito de la glicosilación tipo 1z","Category_Linearization__c":"ORPHA:68367","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":"CAD-CDG is a rare condition that is often diagnosed during infancy. It is caused by changes in a gene called <i>CAD</i> that block an important step involving the sugar glycan. Glycan is needed by the cells and tissues that make up the body. As a result, this condition causes a wide range of health problems. Some common symptoms include seizures, global developmental delay (problems with learning and development), and problems with red blood cells. Red blood cell disorders that can occur with CAD-CDG include anemia (a low number of red blood cells) and anisopoikilocytosis (red blood cells of varying sizes and shapes). Signs and symptoms of CAD-CDG can worsen with time and result in life threatening complications.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"cad-cdg; cad-cdg - carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation; carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation; carbohydrate deficient glycoprotein syndrome type iz; cdg syndrome type iz; cdg-iz; cdg1z; congenital disorder of glycosylation type 1z; dee50; developmental and epileptic encephalopathy 50; eiee50; epileptic encephalopathy, early infantile, 50","Name":"Developmental and epileptic encephalopathy, 50","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Aaron's Ohtahara","Website__c":"https://sites.google.com/a/ohtahara.org/ohtahara2/"},{"Account_Name__c":"CDG Canada","Website__c":"https://canadacdg.com/"}],"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":"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":"Infancy","Provided_By__c":"ORPHA:448010"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0013621","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=904125","Source__c":"C4225320","Xref__c":"MEDGEN:904125"},{"URL__c":"https://www.orpha.net/en/disease/detail/448010","Source__c":"C4225320; MONDO:0014647; ORPHA:448010","Xref__c":"ORPHA:448010"},{"URL__c":"https://www.omim.org/entry/616457","Source__c":"C4225320; MONDO:0014647; ORPHA:448010","Xref__c":"OMIM:616457"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4225320","Source__c":"C4225320","Xref__c":"C4225320"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080419","Source__c":"MONDO:0014647","Xref__c":"DOID:0080419"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1237417007","Source__c":"C4225320","Xref__c":"1237417007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014647","Source__c":"GARD:0013621","Xref__c":"MONDO:0014647"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C190868","Source__c":"C4225320","Xref__c":"C190868"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CAD","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:616457","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002136","HPO_Synonym__c":"Broad based gait; Wide based gait; Wide based walk; Wide-based gait","HPO_Name__c":"Broad-based gait","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616457","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001927","HPO_Synonym__c":"Acanthocytes; Red cell acanthocytosis","HPO_Name__c":"Acanthocytosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616457","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in erythrocytes volume or hemoglobin concentration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001903","HPO_Synonym__c":"Anaemia; Low number of red blood cells or hemoglobin","HPO_Name__c":"Anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616457","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased concentration of ammonia in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001987","HPO_Synonym__c":"High blood ammonia levels","HPO_Name__c":"Hyperammonemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:616457","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001508","HPO_Synonym__c":"Faltering weight; FTT; Postnatal failure to thrive; Weight faltering","HPO_Name__c":"Failure to thrive","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616457","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002014","HPO_Synonym__c":"Diarrhea; Watery stool","HPO_Name__c":"Diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616457","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of an abnormal number of fragmented red blood cells (schistocytes) in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001981","HPO_Synonym__c":"Schistocytes","HPO_Name__c":"Schistocytosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616457","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002133","HPO_Synonym__c":"Prolonged seizure; Repeated seizure without recovery; Repeated seizures without recovery between them","HPO_Name__c":"Status epilepticus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616457","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:616457","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:616457","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Loss of developmental skills, as manifested by loss of developmental milestones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002376","HPO_Synonym__c":"Loss of acquired milestones; Loss of developmental milestones; Loss of milestones; Mental deterioration in childhood; Neurodevelopmental regression; Psychomotor regression; Psychomotor regression beginning in infancy; Psychomotor regression in infants; Psychomotor regression, progressive","HPO_Name__c":"Developmental regression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616457","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:616457","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Difficulty in swallowing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002015","HPO_Synonym__c":"Difficulty swallowing; Poor swallowing; Swallowing difficulties; Swallowing difficulty","HPO_Name__c":"Dysphagia","Feature_System__c":"Nervous System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616457","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002465","HPO_Synonym__c":"Poor speech","HPO_Name__c":"Poor speech","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616457","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly of a glycosylation process, i.e., a process involved in the covalent attachment of a glycosyl residue to a substrate molecule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012345","HPO_Name__c":"Abnormal glycosylation","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:616457","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616457","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of poikilocytosis characterized by the presence in the blood of erythrocytes of varying sizes and abnormal shapes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004823","HPO_Name__c":"Anisopoikilocytosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616457","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001947","HPO_Synonym__c":"Accumulation of acid in body due to kidney problem","HPO_Name__c":"Renal tubular acidosis","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:616457","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002283","HPO_Synonym__c":"Diffuse brain atrophy; Generalized brain atrophy; Generalized brain degeneration; Generalized cerebral atrophy","HPO_Name__c":"Global brain atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Inborn Errors of Metabolism"],"Specialist":["Genetics","Epilepsy","Neurodevelopmental disabilities","Pediatrics"],"Account":["Epilepsy"]},"synonyms":["cad-cdg"," cad-cdg - carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation"," carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation"," carbohydrate deficient glycoprotein syndrome type iz"," cdg syndrome type iz"," cdg-iz"," cdg1z"," congenital disorder of glycosylation type 1z"," dee50"," developmental and epileptic encephalopathy 50"," eiee50"," epileptic encephalopathy, early infantile, 50"]}